All transcript variants in gene PHACTR1

Information The variants shown are described using the NM_001242648.1 transcript reference sequence.

118 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.-11G>C r.(=) p.(=) g.12718966G>C Copied from the Exome Variant Server PHACTR1_000001 1/11762 1/8146 0/3616
?/? c.103+33T>C r.(=) p.(=) g.12719112T>C Copied from the Exome Variant Server PHACTR1_000002 1/11586 1/8014 0/3572
?/? c.103+38C>T r.(=) p.(=) g.12719117C>T Copied from the Exome Variant Server PHACTR1_000003 1/11524 0/7980 1/3544
?/? c.144G>A r.(=) p.(=) g.12749916G>A Copied from the Exome Variant Server PHACTR1_000004 2/12108 2/8256 0/3852
?/? c.201C>T r.(=) p.(=) g.12749973C>T Copied from the Exome Variant Server PHACTR1_000005 23/11934 23/8166 0/3768
?/? c.222G>T r.(?) p.(Glu74Asp) g.12749994G>T Copied from the Exome Variant Server PHACTR1_000006 1/11822 1/8134 0/3688
?/? c.250+19C>G r.(=) p.(=) g.12750041C>G Copied from the Exome Variant Server PHACTR1_000007 20/11568 0/8020 20/3548
?/? c.250+34C>T r.(=) p.(=) g.12750056C>T Copied from the Exome Variant Server PHACTR1_000008 26/11002 0/7684 26/3318
?/? c.251-119731C>T r.(=) p.(=) g.12933866C>T Copied from the Exome Variant Server PHACTR1_000009 9/5734 0/3982 9/1752
?/? c.251-119730G>A r.(=) p.(=) g.12933867G>A Copied from the Exome Variant Server PHACTR1_000010 97/5734 3/3982 94/1752
?/? c.251-119690C>T r.(=) p.(=) g.12933907C>T Copied from the Exome Variant Server PHACTR1_000011 3/5734 0/3982 3/1752
?/? c.251-119685G>A r.(=) p.(=) g.12933912G>A Copied from the Exome Variant Server PHACTR1_000012 20/5734 19/3982 1/1752
?/? c.251-119669G>A r.(=) p.(=) g.12933928G>A Copied from the Exome Variant Server PHACTR1_000013 1/5734 0/3982 1/1752
?/? c.251-119628C>A r.(=) p.(=) g.12933969C>A Copied from the Exome Variant Server PHACTR1_000014 43/5734 0/3982 43/1752
?/? c.251-119595G>A r.(=) p.(=) g.12934002G>A Copied from the Exome Variant Server PHACTR1_000015 3/5734 3/3982 0/1752
?/? c.251-119552C>T r.(=) p.(=) g.12934045C>T Copied from the Exome Variant Server PHACTR1_000016 17/5734 16/3982 1/1752
?/? c.251-119538C>G r.(=) p.(=) g.12934059C>G Copied from the Exome Variant Server PHACTR1_000017 1/5734 1/3982 0/1752
?/? c.251-119424C>T r.(=) p.(=) g.12934173C>T Copied from the Exome Variant Server PHACTR1_000018 1/5734 0/3982 1/1752
?/? c.251-29G>A r.(=) p.(=) g.13053568G>A Copied from the Exome Variant Server PHACTR1_000019 2/12118 0/8280 2/3838
?/? c.294C>T r.(=) p.(=) g.13053640C>T Copied from the Exome Variant Server PHACTR1_000020 2/12212 1/8302 1/3910
?/? c.297C>T r.(=) p.(=) g.13053643C>T Copied from the Exome Variant Server PHACTR1_000021 15/12202 14/8292 1/3910
?/? c.322C>T r.(?) p.(Arg108Cys) g.13053668C>T Copied from the Exome Variant Server PHACTR1_000022 1/12178 1/8278 0/3900
?/? c.363G>A r.(=) p.(=) g.13053709G>A Copied from the Exome Variant Server PHACTR1_000023 2/12140 0/8282 2/3858
?/? c.408G>A r.(=) p.(=) g.13053754G>A Copied from the Exome Variant Server PHACTR1_000024 1/12088 1/8262 0/3826
?/? c.415+7T>G r.(=) p.(=) g.13053768T>G Copied from the Exome Variant Server PHACTR1_000025 2/12054 0/8246 2/3808
?/? c.416-49A>G r.(=) p.(=) g.13160387A>G Copied from the Exome Variant Server PHACTR1_000026 356/12086 5/8280 351/3806
?/? c.416-37A>G r.(=) p.(=) g.13160399A>G Copied from the Exome Variant Server PHACTR1_000027 4/12100 0/8286 4/3814
?/? c.416-36C>G r.(=) p.(=) g.13160400C>G Copied from the Exome Variant Server PHACTR1_000028 1/12102 1/8286 0/3816
?/? c.416-30T>C r.(=) p.(=) g.13160406T>C Copied from the Exome Variant Server PHACTR1_000029 4/12090 4/8280 0/3810
?/? c.416-8G>C r.(=) p.(=) g.13160428G>C Copied from the Exome Variant Server PHACTR1_000030 1/12048 1/8262 0/3786
?/? c.416-6T>C r.(=) p.(=) g.13160430T>C Copied from the Exome Variant Server PHACTR1_000031 2/12048 0/8262 2/3786
?/? c.416-4G>A r.spl? p.? g.13160432G>A Copied from the Exome Variant Server PHACTR1_000032 2/12058 2/8266 0/3792
?/? c.496+27G>A r.(=) p.(=) g.13160543G>A Copied from the Exome Variant Server PHACTR1_000033 1/12270 1/8314 0/3956
?/? c.496+40A>G r.(=) p.(=) g.13160556A>G Copied from the Exome Variant Server PHACTR1_000034 1/12302 0/8312 1/3990
?/? c.496+41T>C r.(=) p.(=) g.13160557T>C Copied from the Exome Variant Server PHACTR1_000035 10/12306 2/8312 8/3994
?/? c.496+43C>T r.(=) p.(=) g.13160559C>T Copied from the Exome Variant Server PHACTR1_000036 1/12310 0/8312 1/3998
?/? c.496+44G>A r.(=) p.(=) g.13160560G>A Copied from the Exome Variant Server PHACTR1_000037 19/12304 19/8310 0/3994
?/? c.496+55A>G r.(=) p.(=) g.13160571A>G Copied from the Exome Variant Server PHACTR1_000038 144/4566 2/3182 142/1384
?/? c.497-38C>T r.(=) p.(=) g.13182713C>T Copied from the Exome Variant Server PHACTR1_000039 2/12190 0/8290 2/3900
?/? c.497-33T>G r.(=) p.(=) g.13182718T>G Copied from the Exome Variant Server PHACTR1_000040 536/12182 100/8292 436/3890
?/? c.504A>G r.(=) p.(=) g.13182758A>G Copied from the Exome Variant Server PHACTR1_000042 1/12172 0/8284 1/3888
?/? c.578C>T r.(?) p.(Ala193Val) g.13182832C>T Copied from the Exome Variant Server PHACTR1_000044 1/12282 1/8326 0/3956
?/? c.585C>T r.(=) p.(=) g.13182839C>T Copied from the Exome Variant Server PHACTR1_000046 1/12270 1/8324 0/3946
?/? c.592G>C r.(?) p.(Glu198Gln) g.13182846G>C Copied from the Exome Variant Server PHACTR1_000048 1/12292 1/8328 0/3964
?/? c.596C>G r.(?) p.(Pro199Arg) g.13182850C>G Copied from the Exome Variant Server PHACTR1_000050 1/12288 1/8340 0/3948
?/? c.633G>A r.(=) p.(=) g.13182887G>A Copied from the Exome Variant Server PHACTR1_000052 1/12268 1/8328 0/3940
?/? c.641C>T r.(?) p.(Pro214Leu) g.13182895C>T Copied from the Exome Variant Server PHACTR1_000054 1/12244 1/8318 0/3926
?/? c.642G>A r.(=) p.(=) g.13182896G>A Copied from the Exome Variant Server PHACTR1_000056 4/12222 0/8310 4/3912
?/? c.664+10C>T r.(=) p.(=) g.13182928C>T Copied from the Exome Variant Server PHACTR1_000058 15/12100 15/8266 0/3834
?/? c.664+19T>C r.(=) p.(=) g.13182937T>C Copied from the Exome Variant Server PHACTR1_000060 12/12056 0/8252 12/3804
?/? c.664+21T>C r.(=) p.(=) g.13182939T>C Copied from the Exome Variant Server PHACTR1_000041 6/12056 0/8252 6/3804
?/? c.664+25G>T r.(=) p.(=) g.13182943G>T Copied from the Exome Variant Server PHACTR1_000043 148/12038 1/8244 147/3794
?/? c.664+2064C>T r.(=) p.(=) g.13184982C>T Copied from the Exome Variant Server PHACTR1_000045 19/5734 0/3982 19/1752
?/? c.664+2189A>C r.(=) p.(=) g.13185107A>C Copied from the Exome Variant Server PHACTR1_000047 35/5734 0/3982 35/1752
?/? c.665-18del r.(=) p.(=) g.13206029del Copied from the Exome Variant Server PHACTR1_000049 169/11864 0/8004 169/3860
?/? c.692G>T r.(?) p.(Cys231Phe) g.13206074G>T Copied from the Exome Variant Server PHACTR1_000051 1/12246 1/8306 0/3940
?/? c.711G>A r.(=) p.(=) g.13206093G>A Copied from the Exome Variant Server PHACTR1_000053 2/12258 1/8316 1/3942
?/? c.717G>A r.(=) p.(=) g.13206099G>A Copied from the Exome Variant Server PHACTR1_000055 6/12236 5/8300 1/3936
?/? c.751G>A r.(?) p.(Val251Met) g.13206133G>A Copied from the Exome Variant Server PHACTR1_000057 1/12248 1/8284 0/3964
?/? c.778T>C r.(?) p.(Ser260Pro) g.13206160T>C Copied from the Exome Variant Server PHACTR1_000059 1/12508 0/8366 1/4142
?/? c.835C>T r.(=) p.(=) g.13206217C>T Copied from the Exome Variant Server PHACTR1_000061 1/12720 0/8454 1/4266
?/? c.877G>A r.(?) p.(Gly293Ser) g.13206259G>A Copied from the Exome Variant Server PHACTR1_000062 1/12652 0/8432 1/4220
?/? c.900C>T r.(=) p.(=) g.13206282C>T Copied from the Exome Variant Server PHACTR1_000063 581/12586 142/8404 439/4182
?/? c.920C>T r.(?) p.(Pro307Leu) g.13206302C>T Copied from the Exome Variant Server PHACTR1_000064 2/12532 2/8400 0/4132
?/? c.975G>A r.(=) p.(=) g.13206357G>A Copied from the Exome Variant Server PHACTR1_000065 41/12178 0/8264 41/3914
?/? c.986+17G>A r.(=) p.(=) g.13206385G>A Copied from the Exome Variant Server PHACTR1_000066 198/11752 176/8010 22/3742
?/? c.987-44G>A r.(=) p.(=) g.13228004G>A Copied from the Exome Variant Server PHACTR1_000067 725/12056 447/8252 278/3804
?/? c.987-40G>C r.(=) p.(=) g.13228008G>C Copied from the Exome Variant Server PHACTR1_000068 806/12062 738/8260 68/3802
?/? c.987-20T>C r.(=) p.(=) g.13228028T>C Copied from the Exome Variant Server PHACTR1_000069 1/12058 0/8260 1/3798
?/? c.1041G>A r.(=) p.(=) g.13228102G>A Copied from the Exome Variant Server PHACTR1_000070 1/12074 0/8256 1/3818
?/? c.1069A>G r.(?) p.(Met357Val) g.13228130A>G Copied from the Exome Variant Server PHACTR1_000071 2/12140 0/8276 2/3864
?/? c.1109T>C r.(?) p.(Ile370Thr) g.13228170T>C Copied from the Exome Variant Server PHACTR1_000072 1/12268 1/8316 0/3952
?/? c.1134T>C r.(=) p.(=) g.13228195T>C Copied from the Exome Variant Server PHACTR1_000073 2/12294 2/8320 0/3974
?/? c.1148C>T r.(?) p.(Ser383Leu) g.13228209C>T Copied from the Exome Variant Server PHACTR1_000074 1/12340 1/8348 0/3992
?/? c.1155C>T r.(=) p.(=) g.13228216C>T Copied from the Exome Variant Server PHACTR1_000075 1/12352 0/8354 1/3998
?/? c.1183_1191del r.(?) p.(Glu399_Glu401del) g.13228244_13228252del Copied from the Exome Variant Server PHACTR1_000076 1/11778 1/7960 0/3818
?/? c.1206C>T r.(=) p.(=) g.13228267C>T Copied from the Exome Variant Server PHACTR1_000077 7/12498 6/8388 1/4110
?/? c.1234+4C>T r.spl? p.? g.13228299C>T Copied from the Exome Variant Server PHACTR1_000078 1/12458 1/8368 0/4090
?/? c.1234+26G>A r.(=) p.(=) g.13228321G>A Copied from the Exome Variant Server PHACTR1_000079 258/12424 2/8350 256/4074
?/? c.1235-36T>C r.(=) p.(=) g.13230233T>C Copied from the Exome Variant Server PHACTR1_000080 1/12042 1/8244 0/3798
?/? c.1335G>A r.(=) p.(=) g.13230369G>A Copied from the Exome Variant Server PHACTR1_000081 6/12468 0/8382 6/4086
?/? c.1351C>T r.(?) p.(Arg451Trp) g.13230385C>T Copied from the Exome Variant Server PHACTR1_000082 1/12500 1/8400 0/4100
?/? c.1391+5G>C r.spl? p.? g.13230430G>C Copied from the Exome Variant Server PHACTR1_000083 1/12472 1/8382 0/4090
?/? c.1391+15C>T r.(=) p.(=) g.13230440C>T Copied from the Exome Variant Server PHACTR1_000084 6/12434 0/8366 6/4068
?/? c.1391+34T>A r.(=) p.(=) g.13230459T>A Copied from the Exome Variant Server PHACTR1_000085 39/12290 1/8334 38/3956
?/? c.1391+36G>A r.(=) p.(=) g.13230461G>A Copied from the Exome Variant Server PHACTR1_000086 1/12278 1/8332 0/3946
?/? c.1392-67C>A r.(=) p.(=) g.13273025C>A Copied from the Exome Variant Server PHACTR1_000087 66/4566 1/3182 65/1384
?/? c.1392-44G>C r.(=) p.(=) g.13273048G>C Copied from the Exome Variant Server PHACTR1_000088 1/12168 1/8280 0/3888
?/? c.1392-34T>C r.(=) p.(=) g.13273058T>C Copied from the Exome Variant Server PHACTR1_000089 2/12084 0/8248 2/3836
?/? c.1392-33G>C r.(=) p.(=) g.13273059G>C Copied from the Exome Variant Server PHACTR1_000090 1/12066 0/8244 1/3822
?/? c.1392-4G>A r.spl? p.? g.13273088G>A Copied from the Exome Variant Server PHACTR1_000091 27/11996 24/8230 3/3766
?/? c.1447+42G>A r.(=) p.(=) g.13273189G>A Copied from the Exome Variant Server PHACTR1_000092 4/12056 4/8242 0/3814
?/? c.1448-49C>T r.(=) p.(=) g.13278451C>T Copied from the Exome Variant Server PHACTR1_000093 49/11726 2/8088 47/3638
?/? c.1448-21del r.(=) p.(=) g.13278479del Copied from the Exome Variant Server PHACTR1_000094 15/11350 12/7810 3/3540
?/? c.1448-10del r.(=) p.(=) g.13278490del Copied from the Exome Variant Server PHACTR1_000096 61/11324 39/7806 22/3518
?/? c.1448-10dup r.(=) p.(=) g.13278490dup Copied from the Exome Variant Server PHACTR1_000095 19/11324 13/7806 6/3518
?/? c.1468C>G r.(?) p.(Gln490Glu) g.13278520C>G Copied from the Exome Variant Server PHACTR1_000097 1/12066 1/8236 0/3830
?/? c.1476G>A r.(=) p.(=) g.13278528G>A Copied from the Exome Variant Server PHACTR1_000098 1/12136 1/8268 0/3868
?/? c.1510-20A>T r.(=) p.(=) g.13283634A>T Copied from the Exome Variant Server PHACTR1_000099 1/12456 1/8398 0/4058
?/? c.1527G>A r.(=) p.(=) g.13283671G>A Copied from the Exome Variant Server PHACTR1_000100 1/12450 1/8398 0/4052
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