Full data view for gene PHTF2

Information The variants shown are described using the NM_020432.4 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.-41G>A r.(=) p.(=) g.77469532G>A Copied from the Exome Variant Server PHTF2_000001 6/11990 0/8242 6/3748 - - - - - - -
?/? c.-5A>G r.(=) p.(=) g.77469568A>G Copied from the Exome Variant Server PHTF2_000002 29/11942 26/8214 3/3728 - - - - - - -
?/? c.6G>A r.(=) p.(=) g.77469578G>A Copied from the Exome Variant Server PHTF2_000003 1/11924 1/8204 0/3720 - - - - - - -
?/? c.45+32A>G r.(=) p.(=) g.77469649A>G Copied from the Exome Variant Server PHTF2_000004 82/11756 1/8144 81/3612 - - - - - - -
?/? c.45+14390A>G r.(=) p.(=) g.77484007A>G Copied from the Exome Variant Server PHTF2_000005 9/11562 0/7890 9/3672 - - - - - - -
?/? c.45+14408T>C r.(=) p.(=) g.77484025T>C Copied from the Exome Variant Server PHTF2_000006 1/11948 0/8170 1/3778 - - - - - - -
?/? c.45+14412C>G r.(=) p.(=) g.77484029C>G Copied from the Exome Variant Server PHTF2_000007 1/11994 0/8200 1/3794 - - - - - - -
?/? c.45+14452del r.(=) p.(=) g.77484069del Copied from the Exome Variant Server PHTF2_000008 70/11588 51/7904 19/3684 - - - - - - -
?/? c.45+14456C>T r.(=) p.(=) g.77484073C>T Copied from the Exome Variant Server PHTF2_000009 22/12086 1/8264 21/3822 - - - - - - -
?/? c.45+14457G>A r.(=) p.(=) g.77484074G>A Copied from the Exome Variant Server PHTF2_000010 3/12086 3/8264 0/3822 - - - - - - -
?/? c.45+14495G>A r.(=) p.(=) g.77484112G>A Copied from the Exome Variant Server PHTF2_000011 34/12106 32/8278 2/3828 - - - - - - -
?/? c.45+14504C>T r.(=) p.(=) g.77484121C>T Copied from the Exome Variant Server PHTF2_000012 1/12126 0/8276 1/3850 - - - - - - -
?/? c.45+14506A>G r.(=) p.(=) g.77484123A>G Copied from the Exome Variant Server PHTF2_000013 1/12130 1/8276 0/3854 - - - - - - -
?/? c.45+14564T>A r.(=) p.(=) g.77484181T>A Copied from the Exome Variant Server PHTF2_000014 1/12120 0/8286 1/3834 - - - - - - -
?/? c.45+14576G>A r.(=) p.(=) g.77484193G>A Copied from the Exome Variant Server PHTF2_000015 4/12122 0/8278 4/3844 - - - - - - -
?/? c.45+14585T>A r.(=) p.(=) g.77484202T>A Copied from the Exome Variant Server PHTF2_000016 39/6362 0/4274 39/2088 - - - - - - -
?/? c.46-15G>A r.(=) p.(=) g.77522910G>A Copied from the Exome Variant Server PHTF2_000017 8/11836 8/8156 0/3680 - - - - - - -
?/? c.69A>G r.(?) p.(Ile23Met) g.77522948A>G Copied from the Exome Variant Server PHTF2_000018 3/11754 3/8136 0/3618 - - - - - - -
?/? c.102+54A>G r.(=) p.(=) g.77523035A>G Copied from the Exome Variant Server PHTF2_000019 413/4558 185/3174 228/1384 - - - - - - -
?/? c.102+226_102+227insT r.(=) p.(=) g.77523207_77523208insT Copied from the Exome Variant Server PHTF2_000020 3/11258 1/7784 2/3474 - - - - - - -
?/? c.102+241T>C r.(=) p.(=) g.77523222T>C Copied from the Exome Variant Server PHTF2_000021 36/4566 0/3182 36/1384 - - - - - - -
?/? c.102+248C>T r.(=) p.(=) g.77523229C>T Copied from the Exome Variant Server PHTF2_000022 1/4566 0/3182 1/1384 - - - - - - -
?/? c.102+352C>T r.(=) p.(=) g.77523333C>T Copied from the Exome Variant Server PHTF2_000023 3/11942 3/8226 0/3716 - - - - - - -
?/? c.156T>C r.(=) p.(=) g.77530081T>C Copied from the Exome Variant Server PHTF2_000024 3/11808 3/8158 0/3650 - - - - - - -
?/? c.173-30T>C r.(=) p.(=) g.77531049T>C Copied from the Exome Variant Server PHTF2_000025 1/10140 0/7092 1/3048 - - - - - - -
?/? c.207T>C r.(=) p.(=) g.77531113T>C Copied from the Exome Variant Server PHTF2_000026 1149/11796 474/8158 675/3638 - - - - - - -
?/? c.216T>C r.(=) p.(=) g.77531122T>C Copied from the Exome Variant Server PHTF2_000027 1/11810 1/8158 0/3652 - - - - - - -
?/? c.284C>T r.(?) p.(Thr95Ile) g.77531190C>T Copied from the Exome Variant Server PHTF2_000028 1/11814 1/8160 0/3654 - - - - - - -
?/? c.306G>T r.(?) p.(Trp102Cys) g.77531212G>T Copied from the Exome Variant Server PHTF2_000029 2/11822 0/8170 2/3652 - - - - - - -
?/? c.331+26A>G r.(=) p.(=) g.77531263A>G Copied from the Exome Variant Server PHTF2_000030 1/11764 1/8142 0/3622 - - - - - - -
?/? c.331+35A>T r.(=) p.(=) g.77531272A>T Copied from the Exome Variant Server PHTF2_000031 1/11748 1/8136 0/3612 - - - - - - -
?/? c.332-19T>A r.(=) p.(=) g.77538091T>A Copied from the Exome Variant Server PHTF2_000032 3/11824 2/8172 1/3652 - - - - - - -
?/? c.378A>G r.(?) p.(Ile126Met) g.77538156A>G Copied from the Exome Variant Server PHTF2_000033 1/12112 1/8262 0/3850 - - - - - - -
?/? c.420C>T r.(=) p.(=) g.77538198C>T Copied from the Exome Variant Server PHTF2_000034 1/12178 0/8292 1/3886 - - - - - - -
?/? c.498-38T>C r.(=) p.(=) g.77539524T>C Copied from the Exome Variant Server PHTF2_000035 1/11746 0/8134 1/3612 - - - - - - -
?/? c.568C>A r.(?) p.(Gln190Lys) g.77539632C>A Copied from the Exome Variant Server PHTF2_000036 1/12332 1/8330 0/4002 - - - - - - -
?/? c.595A>G r.(?) p.(Thr199Ala) g.77539659A>G Copied from the Exome Variant Server PHTF2_000037 3/12342 2/8340 1/4002 - - - - - - -
?/? c.602C>G r.(?) p.(Thr201Ser) g.77539666C>G Copied from the Exome Variant Server PHTF2_000038 1/12340 0/8338 1/4002 - - - - - - -
?/? c.643G>A r.(?) p.(Ala215Thr) g.77539707G>A Copied from the Exome Variant Server PHTF2_000039 1/12186 0/8296 1/3890 - - - - - - -
?/? c.662+12T>A r.(=) p.(=) g.77539738T>A Copied from the Exome Variant Server PHTF2_000040 1/11936 1/8210 0/3726 - - - - - - -
?/? c.662+18G>A r.(=) p.(=) g.77539744G>A Copied from the Exome Variant Server PHTF2_000041 4711/11922 4078/8208 633/3714 - - - - - - -
?/? c.662+23A>G r.(=) p.(=) g.77539749A>G Copied from the Exome Variant Server PHTF2_000042 1/11920 1/8214 0/3706 - - - - - - -
?/? c.662+25A>G r.(=) p.(=) g.77539751A>G Copied from the Exome Variant Server PHTF2_000043 247/11914 2/8212 245/3702 - - - - - - -
?/? c.662+37T>C r.(=) p.(=) g.77539763T>C Copied from the Exome Variant Server PHTF2_000044 2/11890 0/8208 2/3682 - - - - - - -
?/? c.663-31C>G r.(=) p.(=) g.77549565C>G Copied from the Exome Variant Server PHTF2_000045 1/11678 1/8106 0/3572 - - - - - - -
?/? c.750C>T r.(=) p.(=) g.77549683C>T Copied from the Exome Variant Server PHTF2_000046 1/11964 1/8214 0/3750 - - - - - - -
?/? c.751G>A r.(?) p.(Gly251Ser) g.77549684G>A Copied from the Exome Variant Server PHTF2_000047 2/11974 2/8216 0/3758 - - - - - - -
?/? c.767A>G r.(?) p.(Gln256Arg) g.77549700A>G Copied from the Exome Variant Server PHTF2_000049 1/11996 0/8220 1/3776 - - - - - - -
?/? c.768A>G r.(=) p.(=) g.77549701A>G Copied from the Exome Variant Server PHTF2_000051 1/11998 1/8220 0/3778 - - - - - - -
?/? c.771C>T r.(=) p.(=) g.77549704C>T Copied from the Exome Variant Server PHTF2_000053 1/12004 1/8222 0/3782 - - - - - - -
?/? c.797G>A r.(?) p.(Arg266Gln) g.77549730G>A Copied from the Exome Variant Server PHTF2_000055 1/12058 1/8250 0/3808 - - - - - - -
?/? c.823G>A r.(?) p.(Gly275Arg) g.77549756G>A Copied from the Exome Variant Server PHTF2_000057 1/12018 0/8240 1/3778 - - - - - - -
?/? c.826A>G r.(?) p.(Thr276Ala) g.77549759A>G Copied from the Exome Variant Server PHTF2_000058 21/12016 1/8234 20/3782 - - - - - - -
?/? c.850-29A>G r.(=) p.(=) g.77551911A>G Copied from the Exome Variant Server PHTF2_000048 1/11758 1/8138 0/3620 - - - - - - -
?/? c.850-5C>T r.spl? p.? g.77551935C>T Copied from the Exome Variant Server PHTF2_000050 1/11830 1/8166 0/3664 - - - - - - -
?/? c.869C>G r.(?) p.(Thr290Arg) g.77551959C>G Copied from the Exome Variant Server PHTF2_000052 10/11862 0/8178 10/3684 - - - - - - -
?/? c.929G>A r.(?) p.(Arg310His) g.77552019G>A Copied from the Exome Variant Server PHTF2_000054 1/11952 1/8194 0/3758 - - - - - - -
?/? c.932A>G r.(?) p.(His311Arg) g.77552022A>G Copied from the Exome Variant Server PHTF2_000056 5/11956 0/8196 5/3760 - - - - - - -
?/? c.943A>G r.(?) p.(Thr315Ala) g.77552033A>G Copied from the Exome Variant Server PHTF2_000059 2/11946 0/8200 2/3746 - - - - - - -
?/? c.958C>T r.(?) p.(Leu320Phe) g.77552048C>T Copied from the Exome Variant Server PHTF2_000060 1/11918 1/8194 0/3724 - - - - - - -
?/? c.968G>A r.(?) p.(Arg323Lys) g.77552058G>A Copied from the Exome Variant Server PHTF2_000061 61/11906 53/8192 8/3714 - - - - - - -
?/? c.1005+24A>G r.(=) p.(=) g.77552119A>G Copied from the Exome Variant Server PHTF2_000062 1/11736 1/8130 0/3606 - - - - - - -
?/? c.1005+32G>A r.(=) p.(=) g.77552127G>A Copied from the Exome Variant Server PHTF2_000063 6396/11698 4735/8114 1661/3584 - - - - - - -
?/? c.1005+34A>G r.(=) p.(=) g.77552129A>G Copied from the Exome Variant Server PHTF2_000064 1/11680 0/8106 1/3574 - - - - - - -
?/? c.1006-37T>C r.(=) p.(=) g.77558389T>C Copied from the Exome Variant Server PHTF2_000065 2/11792 2/8146 0/3646 - - - - - - -
?/? c.1006-23G>A r.(=) p.(=) g.77558403G>A Copied from the Exome Variant Server PHTF2_000066 6/11790 0/8146 6/3644 - - - - - - -
?/? c.1006-21C>G r.(=) p.(=) g.77558405C>G Copied from the Exome Variant Server PHTF2_000067 1/11792 1/8146 0/3646 - - - - - - -
?/? c.1006-19A>C r.(=) p.(=) g.77558407A>C Copied from the Exome Variant Server PHTF2_000068 1/11794 0/8146 1/3648 - - - - - - -
?/? c.1006-13A>G r.(=) p.(=) g.77558413A>G Copied from the Exome Variant Server PHTF2_000069 89/11812 1/8152 88/3660 - - - - - - -
?/? c.1006-1G>T r.spl? p.? g.77558425G>T Copied from the Exome Variant Server PHTF2_000070 2/11828 2/8162 0/3666 - - - - - - -
?/? c.1009G>A r.(?) p.(Ala337Thr) g.77558429G>A Copied from the Exome Variant Server PHTF2_000071 2/11832 2/8160 0/3672 - - - - - - -
?/? c.1023T>A r.(=) p.(=) g.77558443T>A Copied from the Exome Variant Server PHTF2_000072 7/11842 7/8160 0/3682 - - - - - - -
?/? c.1043G>C r.(?) p.(Cys348Ser) g.77558463G>C Copied from the Exome Variant Server PHTF2_000073 1/11908 0/8190 1/3718 - - - - - - -
?/? c.1119A>G r.(=) p.(=) g.77558539A>G Copied from the Exome Variant Server PHTF2_000074 1/12084 1/8280 0/3804 - - - - - - -
?/? c.1177A>G r.(?) p.(Ile393Val) g.77558597A>G Copied from the Exome Variant Server PHTF2_000075 1/11992 1/8246 0/3746 - - - - - - -
?/? c.1183C>G r.(?) p.(Pro395Ala) g.77558603C>G Copied from the Exome Variant Server PHTF2_000076 2/11996 0/8244 2/3752 - - - - - - -
?/? c.1187G>C r.(?) p.(Cys396Ser) g.77558607G>C Copied from the Exome Variant Server PHTF2_000077 2/11972 2/8234 0/3738 - - - - - - -
?/? c.1220A>G r.(?) p.(His407Arg) g.77558640A>G Copied from the Exome Variant Server PHTF2_000078 1/11898 1/8202 0/3696 - - - - - - -
?/? c.1225-18_1225-17del r.(=) p.(=) g.77567009_77567010del Copied from the Exome Variant Server PHTF2_000100 91/10058 68/6994 23/3064 - - - - - - -
?/? c.1225-17del r.(=) p.(=) g.77567010del Copied from the Exome Variant Server PHTF2_000080 1295/10058 916/6994 379/3064 - - - - - - -
?/? c.1225-17dup r.(=) p.(=) g.77567010dup Copied from the Exome Variant Server PHTF2_000079 1235/10058 758/6994 477/3064 - - - - - - -
?/? c.1279A>G r.(?) p.(Ile427Val) g.77567081A>G Copied from the Exome Variant Server PHTF2_000081 1/11748 1/8136 0/3612 - - - - - - -
?/? c.1353+34G>A r.(=) p.(=) g.77567189G>A Copied from the Exome Variant Server PHTF2_000082 11/11696 0/8114 11/3582 - - - - - - -
?/? c.1354-45A>G r.(=) p.(=) g.77569302A>G Copied from the Exome Variant Server PHTF2_000083 1/11564 1/8004 0/3560 - - - - - - -
?/? c.1534C>A r.(?) p.(Leu512Ile) g.77569527C>A Copied from the Exome Variant Server PHTF2_000084 1/11884 1/8194 0/3690 - - - - - - -
?/? c.1566C>T r.(=) p.(=) g.77569559C>T Copied from the Exome Variant Server PHTF2_000085 325/11848 272/8180 53/3668 - - - - - - -
?/? c.1626+6T>C r.(=) p.(=) g.77569625T>C Copied from the Exome Variant Server PHTF2_000086 2/11728 2/8138 0/3590 - - - - - - -
?/? c.1627-47C>G r.(=) p.(=) g.77569798C>G Copied from the Exome Variant Server PHTF2_000087 25/11648 24/8090 1/3558 - - - - - - -
?/? c.1627-20C>T r.(=) p.(=) g.77569825C>T Copied from the Exome Variant Server PHTF2_000088 10/11676 0/8108 10/3568 - - - - - - -
?/? c.1655A>G r.(?) p.(His552Arg) g.77569873A>G Copied from the Exome Variant Server PHTF2_000089 1/11754 1/8140 0/3614 - - - - - - -
?/? c.1737A>C r.(=) p.(=) g.77569955A>C Copied from the Exome Variant Server PHTF2_000090 1/11810 1/8156 0/3654 - - - - - - -
?/? c.1758+26T>A r.(=) p.(=) g.77570002T>A Copied from the Exome Variant Server PHTF2_000091 1/11798 1/8162 0/3636 - - - - - - -
?/? c.1758+27T>G r.(=) p.(=) g.77570003T>G Copied from the Exome Variant Server PHTF2_000092 1/11792 1/8160 0/3632 - - - - - - -
?/? c.1845+12C>T r.(=) p.(=) g.77572115C>T Copied from the Exome Variant Server PHTF2_000093 1/11886 1/8180 0/3706 - - - - - - -
?/? c.1845+15T>G r.(=) p.(=) g.77572118T>G Copied from the Exome Variant Server PHTF2_000094 1/11856 1/8170 0/3686 - - - - - - -
?/? c.1861G>A r.(?) p.(Glu621Lys) g.77579010G>A Copied from the Exome Variant Server PHTF2_000095 1/11882 1/8170 0/3712 - - - - - - -
?/? c.1915T>C r.(=) p.(=) g.77579064T>C Copied from the Exome Variant Server PHTF2_000096 96/11874 0/8172 96/3702 - - - - - - -
?/? c.2001+15_2001+17del r.(=) p.(=) g.77579165_77579167del Copied from the Exome Variant Server PHTF2_000097 5/11330 0/7814 5/3516 - - - - - - -
?/? c.2001+36T>C r.(=) p.(=) g.77579186T>C Copied from the Exome Variant Server PHTF2_000098 1/11722 0/8114 1/3608 - - - - - - -
?/? c.2001+39A>G r.(=) p.(=) g.77579189A>G Copied from the Exome Variant Server PHTF2_000099 1/11704 0/8106 1/3598 - - - - - - -
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