All transcript variants in gene PRICKLE3

Information The variants shown are described using the NM_006150.3 transcript reference sequence.

73 entries on 1 page. Showing entries 1 - 73.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.43-54_43-52del r.(=) p.(=) g.49041215_49041217del Copied from the Exome Variant Server PRICKLE3_000073 30/7484 9/4602 21/2882
?/? c.128+9C>T r.(=) p.(=) g.49041069G>A Copied from the Exome Variant Server PRICKLE3_000072 15/9071 0/5713 15/3358
?/? c.201C>A r.(=) p.(=) g.49040298G>T Copied from the Exome Variant Server PRICKLE3_000071 58/10563 0/6728 58/3835
?/? c.212G>A r.(?) p.(Arg71Gln) g.49040287C>T Copied from the Exome Variant Server PRICKLE3_000070 3/10563 2/6728 1/3835
?/? c.229C>G r.(?) p.(Gln77Glu) g.49040270G>C Copied from the Exome Variant Server PRICKLE3_000069 1/10563 0/6728 1/3835
?/? c.233G>A r.(?) p.(Arg78His) g.49040266C>T Copied from the Exome Variant Server PRICKLE3_000068 1/10563 0/6728 1/3835
?/? c.321A>G r.(=) p.(=) g.49036147T>C Copied from the Exome Variant Server PRICKLE3_000067 2/10534 1/6710 1/3824
?/? c.349G>A r.(?) p.(Val117Ile) g.49036119C>T Copied from the Exome Variant Server PRICKLE3_000066 1/10555 1/6723 0/3832
?/? c.426+40C>T r.(=) p.(=) g.49036002G>A Copied from the Exome Variant Server PRICKLE3_000064 2/10496 0/6686 2/3810
?/? c.427-34A>C r.(=) p.(=) g.49035771T>G Copied from the Exome Variant Server PRICKLE3_000062 1/10562 1/6728 0/3834
?/? c.427-26G>A r.(=) p.(=) g.49035763C>T Copied from the Exome Variant Server PRICKLE3_000060 1/10563 0/6728 1/3835
?/? c.427-3C>T r.spl? p.? g.49035740G>A Copied from the Exome Variant Server PRICKLE3_000058 1/10563 1/6728 0/3835
?/? c.431A>T r.(?) p.(Gln144Leu) g.49035733T>A Copied from the Exome Variant Server PRICKLE3_000057 1/10563 1/6728 0/3835
?/? c.432G>A r.(=) p.(=) g.49035732C>T Copied from the Exome Variant Server PRICKLE3_000065 8/10563 8/6728 0/3835
?/? c.473G>A r.(?) p.(Arg158Gln) g.49035691C>T Copied from the Exome Variant Server PRICKLE3_000063 2/10563 0/6728 2/3835
?/? c.513T>C r.(=) p.(=) g.49035651A>G Copied from the Exome Variant Server PRICKLE3_000061 1/10563 0/6728 1/3835
?/? c.524G>A r.(?) p.(Arg175His) g.49035640C>T Copied from the Exome Variant Server PRICKLE3_000059 19/10563 0/6728 19/3835
?/? c.564+47G>A r.(=) p.(=) g.49035553C>T Copied from the Exome Variant Server PRICKLE3_000056 1/10554 1/6727 0/3827
?/? c.565-19G>A r.(=) p.(=) g.49034843C>T Copied from the Exome Variant Server PRICKLE3_000055 1/10563 1/6728 0/3835
?/? c.565-10C>T r.(=) p.(=) g.49034834G>A Copied from the Exome Variant Server PRICKLE3_000054 1/10563 1/6728 0/3835
?/? c.567C>T r.(=) p.(=) g.49034822G>A Copied from the Exome Variant Server PRICKLE3_000053 1/10563 1/6728 0/3835
?/? c.610C>T r.(?) p.(Arg204Cys) g.49034779G>A Copied from the Exome Variant Server PRICKLE3_000052 1/10562 1/6727 0/3835
?/? c.659C>T r.(?) p.(Thr220Met) g.49034730G>A Copied from the Exome Variant Server PRICKLE3_000051 1/10561 0/6727 1/3834
?/? c.660G>A r.(=) p.(=) g.49034729C>T Copied from the Exome Variant Server PRICKLE3_000050 1/10561 0/6727 1/3834
?/? c.699T>C r.(=) p.(=) g.49034690A>G Copied from the Exome Variant Server PRICKLE3_000049 1/10558 0/6725 1/3833
?/? c.717C>T r.(=) p.(=) g.49034672G>A Copied from the Exome Variant Server PRICKLE3_000048 11/10554 0/6724 11/3830
?/? c.768+16C>T r.(=) p.(=) g.49034605G>A Copied from the Exome Variant Server PRICKLE3_000047 2/10552 0/6720 2/3832
?/? c.768+23G>T r.(=) p.(=) g.49034598C>A Copied from the Exome Variant Server PRICKLE3_000046 70/10555 0/6724 70/3831
?/? c.768+41C>T r.(=) p.(=) g.49034580G>A Copied from the Exome Variant Server PRICKLE3_000045 2/10555 0/6724 2/3831
?/? c.791C>T r.(?) p.(Thr264Met) g.49034506G>A Copied from the Exome Variant Server PRICKLE3_000044 2/10563 2/6728 0/3835
?/? c.792G>A r.(=) p.(=) g.49034505C>T Copied from the Exome Variant Server PRICKLE3_000043 1/10563 0/6728 1/3835
?/? c.864G>A r.(=) p.(=) g.49034433C>T Copied from the Exome Variant Server PRICKLE3_000042 1/10563 0/6728 1/3835
?/? c.901G>A r.(?) p.(Ala301Thr) g.49034396C>T Copied from the Exome Variant Server PRICKLE3_000041 1/10562 1/6727 0/3835
?/? c.916C>T r.(?) p.(Arg306Cys) g.49034381G>A Copied from the Exome Variant Server PRICKLE3_000040 2/10563 2/6728 0/3835
?/? c.919C>T r.(?) p.(His307Tyr) g.49034378G>A Copied from the Exome Variant Server PRICKLE3_000039 2/10561 0/6728 2/3833
?/? c.921C>T r.(=) p.(=) g.49034376G>A Copied from the Exome Variant Server PRICKLE3_000038 2/10562 0/6727 2/3835
?/? c.954C>T r.(=) p.(=) g.49034343G>A Copied from the Exome Variant Server PRICKLE3_000037 1/10563 1/6728 0/3835
?/? c.955+5G>T r.spl? p.? g.49034337C>A Copied from the Exome Variant Server PRICKLE3_000036 1/10563 0/6728 1/3835
?/? c.955+48G>T r.(=) p.(=) g.49034294C>A Copied from the Exome Variant Server PRICKLE3_000035 5/10558 0/6723 5/3835
?/? c.956-18C>T r.(=) p.(=) g.49033569G>A Copied from the Exome Variant Server PRICKLE3_000034 1/10423 0/6646 1/3777
?/? c.1013G>T r.(?) p.(Cys338Phe) g.49033494C>A Copied from the Exome Variant Server PRICKLE3_000033 2/10499 2/6687 0/3812
?/? c.1025G>C r.(?) p.(Ser342Thr) g.49033482C>G Copied from the Exome Variant Server PRICKLE3_000032 1/10465 0/6660 1/3805
?/? c.1027C>T r.(?) p.(Arg343Cys) g.49033480G>A Copied from the Exome Variant Server PRICKLE3_000031 23/10450 0/6648 23/3802
?/? c.1037G>A r.(?) p.(Arg346Gln) g.49033470C>T Copied from the Exome Variant Server PRICKLE3_000030 4/10404 0/6618 4/3786
?/? c.1082_1084del r.(?) p.(Phe361del) g.49033423_49033425del Copied from the Exome Variant Server PRICKLE3_000029 22/10162 16/6457 6/3705
?/? c.1091G>A r.(?) p.(Arg364Gln) g.49033416C>T Copied from the Exome Variant Server PRICKLE3_000028 2/10534 0/6707 2/3827
?/? c.1130C>T r.(?) p.(Pro377Leu) g.49033377G>A Copied from the Exome Variant Server PRICKLE3_000027 8/10550 8/6720 0/3830
?/? c.1138C>T r.(?) p.(Arg380Cys) g.49033369G>A Copied from the Exome Variant Server PRICKLE3_000026 2/10560 0/6727 2/3833
?/? c.1245G>A r.(=) p.(=) g.49033262C>T Copied from the Exome Variant Server PRICKLE3_000025 1/10563 1/6728 0/3835
?/? c.1251G>A r.(=) p.(=) g.49033256C>T Copied from the Exome Variant Server PRICKLE3_000024 1/10563 1/6728 0/3835
?/? c.1340C>A r.(?) p.(Pro447His) g.49032530G>T Copied from the Exome Variant Server PRICKLE3_000023 3/10243 0/6535 3/3708
?/? c.1352del r.(?) p.(Pro451Glnfs*40) g.49032518del Copied from the Exome Variant Server PRICKLE3_000022 42/9840 29/6276 13/3564
?/? c.1360C>G r.(?) p.(Pro454Ala) g.49032510G>C Copied from the Exome Variant Server PRICKLE3_000021 1/10409 0/6633 1/3776
?/? c.1364G>A r.(?) p.(Gly455Asp) g.49032506C>T Copied from the Exome Variant Server PRICKLE3_000020 8/10442 0/6655 8/3787
?/? c.1403G>T r.(?) p.(Arg468Leu) g.49032467C>A Copied from the Exome Variant Server PRICKLE3_000019 1/10524 0/6705 1/3819
?/? c.1481C>T r.(?) p.(Pro494Leu) g.49032389G>A Copied from the Exome Variant Server PRICKLE3_000018 1/10477 0/6674 1/3803
?/? c.1482G>C r.(=) p.(=) g.49032388C>G Copied from the Exome Variant Server PRICKLE3_000017 1/10489 0/6679 1/3810
?/? c.1511C>G r.(?) p.(Pro504Arg) g.49032359G>C Copied from the Exome Variant Server PRICKLE3_000016 2/10551 2/6721 0/3830
?/? c.1566_1567insCATCAC r.(?) p.(His521_His522dup) g.49032303_49032304insGTGATG Copied from the Exome Variant Server PRICKLE3_000015 23/10205 2/6484 21/3721
?/? c.1579A>G r.(?) p.(Ser527Gly) g.49032291T>C Copied from the Exome Variant Server PRICKLE3_000014 16/10563 0/6728 16/3835
?/? c.1599A>G r.(=) p.(=) g.49032271T>C Copied from the Exome Variant Server PRICKLE3_000013 2/10563 0/6728 2/3835
?/? c.1611A>G r.(=) p.(=) g.49032259T>C Copied from the Exome Variant Server PRICKLE3_000012 1/10563 1/6728 0/3835
?/? c.1649C>G r.(?) p.(Ser550Cys) g.49032221G>C Copied from the Exome Variant Server PRICKLE3_000010 2/10563 2/6728 0/3835
?/? c.1662C>T r.(=) p.(=) g.49032208G>A Copied from the Exome Variant Server PRICKLE3_000011 849/10563 775/6728 74/3835
?/? c.1663G>A r.(?) p.(Glu555Lys) g.49032207C>T Copied from the Exome Variant Server PRICKLE3_000009 1/10563 1/6728 0/3835
?/? c.1782G>A r.(=) p.(=) g.49032088C>T Copied from the Exome Variant Server PRICKLE3_000008 1/10563 0/6728 1/3835
?/? c.1785C>T r.(=) p.(=) g.49032085G>A Copied from the Exome Variant Server PRICKLE3_000007 1/10563 0/6728 1/3835
?/? c.1818G>A r.(=) p.(=) g.49032052C>T Copied from the Exome Variant Server PRICKLE3_000006 3/10563 3/6728 0/3835
?/? c.1822C>G r.(?) p.(Arg608Gly) g.49032048G>C Copied from the Exome Variant Server PRICKLE3_000005 1/10563 0/6728 1/3835
?/? c.1841T>C r.(?) p.(Val614Ala) g.49032029A>G Copied from the Exome Variant Server PRICKLE3_000004 1/10562 1/6727 0/3835
?/? c.1847G>A r.(=) p.(=) g.49032023C>T Copied from the Exome Variant Server PRICKLE3_000003 1/10561 1/6726 0/3835
?/? c.*1A>G r.(=) p.(=) g.49032021T>C Copied from the Exome Variant Server PRICKLE3_000002 1/10561 1/6726 0/3835
?/? c.*21G>C r.(=) p.(=) g.49032001C>G Copied from the Exome Variant Server PRICKLE3_000001 30/10549 0/6718 30/3831
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