All transcript variants in gene SRPK3

Information The variants shown are described using the NM_014370.3 transcript reference sequence.

140 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.59+21C>A r.(=) p.(=) g.153046621C>A Copied from the Exome Variant Server SRPK3_000027 14/9883 0/6304 14/3579
?/? c.59+27C>A r.(=) p.(=) g.153046627C>A Copied from the Exome Variant Server SRPK3_000028 1/10160 0/6469 1/3691
?/? c.60-9C>T r.(=) p.(=) g.153046662C>T Copied from the Exome Variant Server SRPK3_000029 2/10448 2/6666 0/3782
?/? c.60-5C>T r.spl? p.? g.153046666C>T Copied from the Exome Variant Server SRPK3_000030 1/10451 1/6668 0/3783
?/? c.75C>T r.(=) p.(=) g.153046686C>T Copied from the Exome Variant Server SRPK3_000031 276/10499 0/6699 276/3800
?/? c.97G>A r.(?) p.(Glu33Lys) g.153046708G>A Copied from the Exome Variant Server SRPK3_000032 3/10542 3/6718 0/3824
?/? c.105C>A r.(=) p.(=) g.153046716C>A Copied from the Exome Variant Server SRPK3_000033 1/10545 1/6720 0/3825
?/? c.117G>A r.(=) p.(=) g.153046728G>A Copied from the Exome Variant Server SRPK3_000034 2/10541 0/6720 2/3821
?/? c.119T>C r.(?) p.(Val40Ala) g.153046730T>C Copied from the Exome Variant Server SRPK3_000035 1/10537 1/6718 0/3819
?/? c.127A>G r.(?) p.(Met43Val) g.153046738A>G Copied from the Exome Variant Server SRPK3_000036 1/10540 1/6718 0/3822
?/? c.128T>G r.(?) p.(Met43Arg) g.153046739T>G Copied from the Exome Variant Server SRPK3_000037 1/10540 1/6718 0/3822
?/? c.150C>T r.(=) p.(=) g.153046761C>T Copied from the Exome Variant Server SRPK3_000038 1/10545 0/6721 1/3824
?/? c.153C>T r.(=) p.(=) g.153046764C>T Copied from the Exome Variant Server SRPK3_000039 1/10549 0/6721 1/3828
?/? c.185G>A r.(?) p.(Cys62Tyr) g.153046796G>A Copied from the Exome Variant Server SRPK3_000040 2/10552 0/6723 2/3829
?/? c.190+25C>T r.(=) p.(=) g.153046826C>T Copied from the Exome Variant Server SRPK3_000041 1/10555 0/6723 1/3832
?/? c.190+33C>T r.(=) p.(=) g.153046834C>T Copied from the Exome Variant Server SRPK3_000042 2/10552 2/6722 0/3830
?/? c.191-40G>C r.(=) p.(=) g.153046920G>C Copied from the Exome Variant Server SRPK3_000043 1/10550 1/6725 0/3825
?/? c.191-10C>T r.(=) p.(=) g.153046950C>T Copied from the Exome Variant Server SRPK3_000044 1/10559 1/6727 0/3832
?/? c.220G>A r.(?) p.(Val74Met) g.153046989G>A Copied from the Exome Variant Server SRPK3_000045 1/10559 1/6726 0/3833
?/? c.235T>A r.(?) p.(Tyr79Asn) g.153047004T>A Copied from the Exome Variant Server SRPK3_000046 1/10560 0/6727 1/3833
?/? c.257G>A r.(?) p.(Gly86Asp) g.153047026G>A Copied from the Exome Variant Server SRPK3_000047 1/10561 1/6728 0/3833
?/? c.299+15C>A r.(=) p.(=) g.153047083C>A Copied from the Exome Variant Server SRPK3_000048 1/10559 0/6726 1/3833
?/? c.299+20C>T r.(=) p.(=) g.153047088C>T Copied from the Exome Variant Server SRPK3_000049 23/10556 0/6725 23/3831
?/? c.299+21C>T r.(=) p.(=) g.153047089C>T Copied from the Exome Variant Server SRPK3_000050 1/10556 0/6725 1/3831
?/? c.300-46G>A r.(=) p.(=) g.153047152G>A Copied from the Exome Variant Server SRPK3_000091 14/10560 0/6728 14/3832
?/? c.301C>T r.(?) p.(Arg101Cys) g.153047199C>T Copied from the Exome Variant Server SRPK3_000092 5/10561 0/6727 5/3834
?/? c.308G>A r.(?) p.(Arg103His) g.153047206G>A Copied from the Exome Variant Server SRPK3_000093 1/10561 1/6727 0/3834
?/? c.341G>A r.(?) p.(Gly114Glu) g.153047239G>A Copied from the Exome Variant Server SRPK3_000094 20/10560 18/6728 2/3832
?/? c.387+20C>T r.(=) p.(=) g.153047305C>T Copied from the Exome Variant Server SRPK3_000095 3/10559 3/6726 0/3833
?/? c.387+28G>C r.(=) p.(=) g.153047313G>C Copied from the Exome Variant Server SRPK3_000096 4/10558 1/6726 3/3832
?/? c.388-50G>A r.(=) p.(=) g.153047526G>A Copied from the Exome Variant Server SRPK3_000097 1/10559 0/6727 1/3832
?/? c.399C>T r.(=) p.(=) g.153047587C>T Copied from the Exome Variant Server SRPK3_000098 70/10559 0/6728 70/3831
?/? c.475+31G>T r.(=) p.(=) g.153047694G>T Copied from the Exome Variant Server SRPK3_000099 1/10558 0/6726 1/3832
?/? c.476-40G>A r.(=) p.(=) g.153048187G>A Copied from the Exome Variant Server SRPK3_000100 3/10514 3/6706 0/3808
?/? c.476-31G>A r.(=) p.(=) g.153048196G>A Copied from the Exome Variant Server SRPK3_000126 1/10529 1/6714 0/3815
?/? c.553G>A r.(?) p.(Val185Met) g.153048304G>A Copied from the Exome Variant Server SRPK3_000127 3/10560 0/6728 3/3832
?/? c.557C>T r.(?) p.(Pro186Leu) g.153048308C>T Copied from the Exome Variant Server SRPK3_000128 1/10560 1/6728 0/3832
?/? c.562G>A r.(?) p.(Val188Met) g.153048313G>A Copied from the Exome Variant Server SRPK3_000129 1/10560 1/6728 0/3832
?/? c.567G>A r.(=) p.(=) g.153048318G>A Copied from the Exome Variant Server SRPK3_000130 1/10559 0/6727 1/3832
?/? c.582+8C>T r.(=) p.(=) g.153048341C>T Copied from the Exome Variant Server SRPK3_000131 1/10555 1/6724 0/3831
?/? c.583-5T>C r.spl? p.? g.153048403T>C Copied from the Exome Variant Server SRPK3_000132 4162/10560 2304/6727 1858/3833
?/? c.615G>A r.(=) p.(=) g.153048440G>A Copied from the Exome Variant Server SRPK3_000133 144/10562 1/6727 143/3835
?/? c.636C>T r.(=) p.(=) g.153048461C>T Copied from the Exome Variant Server SRPK3_000134 1/10562 1/6727 0/3835
?/? c.659T>A r.(?) p.(Leu220Gln) g.153048484T>A Copied from the Exome Variant Server SRPK3_000101 1/10562 1/6727 0/3835
?/? c.663T>C r.(=) p.(=) g.153048488T>C Copied from the Exome Variant Server SRPK3_000102 6/10562 0/6727 6/3835
?/? c.667G>A r.(?) p.(Gly223Arg) g.153048492G>A Copied from the Exome Variant Server SRPK3_000103 1/10561 1/6726 0/3835
?/? c.685C>T r.(?) p.(Arg229Cys) g.153048510C>T Copied from the Exome Variant Server SRPK3_000104 1/10560 1/6726 0/3834
?/? c.705G>A r.(=) p.(=) g.153048530G>A Copied from the Exome Variant Server SRPK3_000105 1/10556 1/6725 0/3831
?/? c.709T>C r.(?) p.(Trp237Arg) g.153048534T>C Copied from the Exome Variant Server SRPK3_000106 15/10555 0/6725 15/3830
?/? c.735C>T r.(=) p.(=) g.153048560C>T Copied from the Exome Variant Server SRPK3_000107 3/10507 0/6697 3/3810
?/? c.740G>A r.(?) p.(Arg247His) g.153048565G>A Copied from the Exome Variant Server SRPK3_000108 2/10513 2/6699 0/3814
?/? c.749-33T>C r.(=) p.(=) g.153048648T>C Copied from the Exome Variant Server SRPK3_000109 1727/9976 1275/6297 452/3679
?/? c.749-28C>G r.(=) p.(=) g.153048653C>G Copied from the Exome Variant Server SRPK3_000110 7/10221 0/6505 7/3716
?/? c.749-27C>T r.(=) p.(=) g.153048654C>T Copied from the Exome Variant Server SRPK3_000111 1/10220 1/6504 0/3716
?/? c.749-27_749-26insG r.(=) p.(=) g.153048654_153048655insG Copied from the Exome Variant Server SRPK3_000112 18/9792 9/6217 9/3575
?/? c.749-26C>A r.(=) p.(=) g.153048655C>A Copied from the Exome Variant Server SRPK3_000113 4/10196 0/6486 4/3710
?/? c.749-25_749-24del r.(=) p.(=) g.153048656_153048657del Copied from the Exome Variant Server SRPK3_000114 7256/9689 4440/6153 2816/3536
?/? c.749-24A>C r.(=) p.(=) g.153048657A>C Copied from the Exome Variant Server SRPK3_000115 6995/10125 4325/6468 2670/3657
?/? c.764_766del r.(?) p.(Glu256del) g.153048696_153048698del Copied from the Exome Variant Server SRPK3_000116 1/10168 0/6468 1/3700
?/? c.774+51C>T r.(=) p.(=) g.153048757C>T Copied from the Exome Variant Server SRPK3_000117 72/10513 65/6709 7/3804
?/? c.774+83_774+84insC r.(=) p.(=) g.153048789_153048790insC Copied from the Exome Variant Server SRPK3_000118 7/9931 3/6325 4/3606
?/? c.775-34G>A r.(=) p.(=) g.153049173G>A Copied from the Exome Variant Server SRPK3_000119 2/10556 2/6724 0/3832
?/? c.817C>T r.(?) p.(Arg273Cys) g.153049249C>T Copied from the Exome Variant Server SRPK3_000120 1/10551 0/6723 1/3828
?/? c.824G>A r.(?) p.(Arg275Gln) g.153049256G>A Copied from the Exome Variant Server SRPK3_000121 1/10549 1/6723 0/3826
?/? c.838C>T r.(?) p.(Arg280Trp) g.153049270C>T Copied from the Exome Variant Server SRPK3_000066 1/10538 0/6719 1/3819
?/? c.854G>A r.(?) p.(Arg285Gln) g.153049286G>A Copied from the Exome Variant Server SRPK3_000067 1/10502 1/6706 0/3796
?/? c.860G>A r.(?) p.(Arg287Gln) g.153049292G>A Copied from the Exome Variant Server SRPK3_000068 1/10490 1/6700 0/3790
?/? c.880G>A r.(?) p.(Ala294Thr) g.153049312G>A Copied from the Exome Variant Server SRPK3_000003 15/10459 0/6682 15/3777
?/? c.907+6G>A r.(=) p.(=) g.153049345G>A Copied from the Exome Variant Server SRPK3_000004 1617/10475 1170/6693 447/3782
?/? c.907+9C>T r.(=) p.(=) g.153049348C>T Copied from the Exome Variant Server SRPK3_000005 23/10469 0/6691 23/3778
?/? c.907+39C>G r.(=) p.(=) g.153049378C>G Copied from the Exome Variant Server SRPK3_000006 1/10522 1/6716 0/3806
?/? c.908-40A>G r.(=) p.(=) g.153049389A>G Copied from the Exome Variant Server SRPK3_000007 5006/10517 2269/6716 2737/3801
?/? c.908-38A>G r.(=) p.(=) g.153049391A>G Copied from the Exome Variant Server SRPK3_000008 2386/10519 1058/6718 1328/3801
?/? c.908-26C>G r.(=) p.(=) g.153049403C>G Copied from the Exome Variant Server SRPK3_000009 1/10526 1/6718 0/3808
?/? c.908-24G>A r.(=) p.(=) g.153049405G>A Copied from the Exome Variant Server SRPK3_000010 2/10529 0/6717 2/3812
?/? c.927C>T r.(=) p.(=) g.153049448C>T Copied from the Exome Variant Server SRPK3_000011 1/10518 1/6706 0/3812
?/? c.936C>T r.(=) p.(=) g.153049457C>T Copied from the Exome Variant Server SRPK3_000012 1/10521 1/6710 0/3811
?/? c.966C>T r.(=) p.(=) g.153049487C>T Copied from the Exome Variant Server SRPK3_000013 6/10533 1/6713 5/3820
?/? c.967G>A r.(?) p.(Gly323Arg) g.153049488G>A Copied from the Exome Variant Server SRPK3_000014 1/10533 1/6713 0/3820
?/? c.972C>T r.(=) p.(=) g.153049493C>T Copied from the Exome Variant Server SRPK3_000015 6/10534 6/6715 0/3819
?/? c.1008C>T r.(=) p.(=) g.153049529C>T Copied from the Exome Variant Server SRPK3_000016 7/10526 0/6708 7/3818
?/? c.1009G>C r.(?) p.(Ala337Pro) g.153049530G>C Copied from the Exome Variant Server SRPK3_000017 18/10527 8/6709 10/3818
?/? c.1010_1014del r.(?) p.(Ala337Glyfs*5) g.153049531_153049535del Copied from the Exome Variant Server SRPK3_000018 734/10063 446/6404 288/3659
?/? c.1014A>G r.(=) p.(=) g.153049535A>G Copied from the Exome Variant Server SRPK3_000019 4118/10528 2344/6705 1774/3823
?/? c.1019G>T r.(?) p.(Gly340Val) g.153049540G>T Copied from the Exome Variant Server SRPK3_000020 11/10542 0/6715 11/3827
?/? c.1021G>A r.(?) p.(Gly341Ser) g.153049542G>A Copied from the Exome Variant Server SRPK3_000021 2/10546 1/6723 1/3823
?/? c.1026T>C r.(=) p.(=) g.153049547T>C Copied from the Exome Variant Server SRPK3_000022 16/10556 0/6726 16/3830
?/? c.1034G>T r.(?) p.(Ser345Ile) g.153049555G>T Copied from the Exome Variant Server SRPK3_000023 1/10556 0/6726 1/3830
?/? c.1038G>T r.(=) p.(=) g.153049559G>T Copied from the Exome Variant Server SRPK3_000024 1/10558 1/6727 0/3831
?/? c.1062C>T r.(=) p.(=) g.153049583C>T Copied from the Exome Variant Server SRPK3_000025 30/10560 1/6727 29/3833
?/? c.1102G>A r.(?) p.(Gly368Ser) g.153049623G>A Copied from the Exome Variant Server SRPK3_000026 1/10561 1/6728 0/3833
?/? c.1126G>A r.(?) p.(Gly376Arg) g.153049647G>A Copied from the Exome Variant Server SRPK3_000069 1/10563 1/6728 0/3835
?/? c.1147+26A>G r.(=) p.(=) g.153049694A>G Copied from the Exome Variant Server SRPK3_000070 2/10561 2/6728 0/3833
?/? c.1147+32G>C r.(=) p.(=) g.153049700G>C Copied from the Exome Variant Server SRPK3_000071 2/10563 2/6728 0/3835
?/? c.1148-24G>A r.(=) p.(=) g.153049725G>A Copied from the Exome Variant Server SRPK3_000072 1/10563 0/6728 1/3835
?/? c.1148-10C>T r.(=) p.(=) g.153049739C>T Copied from the Exome Variant Server SRPK3_000073 1650/10563 1202/6728 448/3835
?/? c.1155C>T r.(=) p.(=) g.153049756C>T Copied from the Exome Variant Server SRPK3_000074 1/10563 1/6728 0/3835
?/? c.1164G>A r.(=) p.(=) g.153049765G>A Copied from the Exome Variant Server SRPK3_000075 1/10563 0/6728 1/3835
?/? c.1179C>T r.(=) p.(=) g.153049780C>T Copied from the Exome Variant Server SRPK3_000076 1/10562 1/6728 0/3834
?/? c.1181C>T r.(?) p.(Pro394Leu) g.153049782C>T Copied from the Exome Variant Server SRPK3_000077 3/10562 0/6728 3/3834
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