Full data view for gene CCDC120

Information The variants shown are described using the NM_033626.2 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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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.-42-24A>G r.(=) p.(=) g.48919742A>G Copied from the Exome Variant Server CCDC120_000001 57/3600 0/2391 57/1209 - - - - - - -
?/? c.-42-20T>C r.(=) p.(=) g.48919746T>C Copied from the Exome Variant Server CCDC120_000002 733/3600 2/2391 731/1209 - - - - - - -
?/? c.-13C>T r.(=) p.(=) g.48919795C>T Copied from the Exome Variant Server CCDC120_000003 2/10563 0/6728 2/3835 - - - - - - -
?/? c.20T>G r.(?) p.(Leu7Arg) g.48919827T>G Copied from the Exome Variant Server CCDC120_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.49+18C>T r.(=) p.(=) g.48919874C>T Copied from the Exome Variant Server CCDC120_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.50-16C>T r.(=) p.(=) g.48919983C>T Copied from the Exome Variant Server CCDC120_000006 97/10563 0/6728 97/3835 - - - - - - -
?/? c.91C>T r.(?) p.(Arg31Cys) g.48920040C>T Copied from the Exome Variant Server CCDC120_000007 1/10562 1/6727 0/3835 - - - - - - -
?/? c.92G>A r.(?) p.(Arg31His) g.48920041G>A Copied from the Exome Variant Server CCDC120_000008 2/10562 2/6727 0/3835 - - - - - - -
?/? c.98G>T r.(?) p.(Arg33Leu) g.48920047G>T Copied from the Exome Variant Server CCDC120_000009 2/10561 0/6726 2/3835 - - - - - - -
?/? c.102G>T r.(=) p.(=) g.48920051G>T Copied from the Exome Variant Server CCDC120_000010 1/10562 1/6727 0/3835 - - - - - - -
?/? c.111C>T r.(=) p.(=) g.48920060C>T Copied from the Exome Variant Server CCDC120_000011 2/10561 0/6726 2/3835 - - - - - - -
?/? c.112C>T r.(?) p.(Arg38Trp) g.48920061C>T Copied from the Exome Variant Server CCDC120_000012 1/10558 1/6724 0/3834 - - - - - - -
?/? c.161G>A r.(?) p.(Arg54His) g.48920110G>A Copied from the Exome Variant Server CCDC120_000013 1/10540 0/6713 1/3827 - - - - - - -
?/? c.184-38C>A r.(=) p.(=) g.48921354C>A Copied from the Exome Variant Server CCDC120_000014 1/10544 1/6713 0/3831 - - - - - - -
?/? c.248G>A r.(?) p.(Arg83His) g.48921456G>A Copied from the Exome Variant Server CCDC120_000015 1/10545 1/6716 0/3829 - - - - - - -
?/? c.253C>T r.(?) p.(Arg85Trp) g.48921461C>T Copied from the Exome Variant Server CCDC120_000016 1/10537 0/6709 1/3828 - - - - - - -
?/? c.257C>T r.(?) p.(Pro86Leu) g.48921465C>T Copied from the Exome Variant Server CCDC120_000017 1/10546 1/6717 0/3829 - - - - - - -
?/? c.268C>T r.(?) p.(Arg90Cys) g.48921476C>T Copied from the Exome Variant Server CCDC120_000018 1/10548 0/6722 1/3826 - - - - - - -
?/? c.269G>A r.(?) p.(Arg90His) g.48921477G>A Copied from the Exome Variant Server CCDC120_000019 1/10550 0/6723 1/3827 - - - - - - -
?/? c.420C>T r.(=) p.(=) g.48921996C>T Copied from the Exome Variant Server CCDC120_000020 1/10028 1/6390 0/3638 - - - - - - -
?/? c.430C>T r.(?) p.(Arg144Trp) g.48922006C>T Copied from the Exome Variant Server CCDC120_000021 4/10131 0/6437 4/3694 - - - - - - -
?/? c.502C>T r.(?) p.(Arg168Trp) g.48922078C>T Copied from the Exome Variant Server CCDC120_000022 1/10429 1/6642 0/3787 - - - - - - -
?/? c.530C>T r.(?) p.(Pro177Leu) g.48922106C>T Copied from the Exome Variant Server CCDC120_000023 1/10481 0/6681 1/3800 - - - - - - -
?/? c.549A>G r.(=) p.(=) g.48922125A>G Copied from the Exome Variant Server CCDC120_000024 1/10539 1/6716 0/3823 - - - - - - -
?/? c.557C>T r.(?) p.(Thr186Met) g.48922133C>T Copied from the Exome Variant Server CCDC120_000025 1/10540 0/6712 1/3828 - - - - - - -
?/? c.598C>T r.(?) p.(Arg200Cys) g.48922174C>T Copied from the Exome Variant Server CCDC120_000026 1/10548 1/6717 0/3831 - - - - - - -
?/? c.625G>A r.(?) p.(Val209Ile) g.48922572G>A Copied from the Exome Variant Server CCDC120_000027 1/10563 0/6728 1/3835 - - - - - - -
?/? c.681C>T r.(=) p.(=) g.48922628C>T Copied from the Exome Variant Server CCDC120_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.682+58C>T r.(=) p.(=) g.48922687C>T Copied from the Exome Variant Server CCDC120_000029 2/3600 0/2391 2/1209 - - - - - - -
?/? c.683-51C>A r.(=) p.(=) g.48922934C>A Copied from the Exome Variant Server CCDC120_000030 1/9886 1/6250 0/3636 - - - - - - -
?/? c.683-10T>C r.(=) p.(=) g.48922975T>C Copied from the Exome Variant Server CCDC120_000031 1/10485 0/6684 1/3801 - - - - - - -
?/? c.716G>A r.(?) p.(Arg239His) g.48923018G>A Copied from the Exome Variant Server CCDC120_000032 2/10556 2/6722 0/3834 - - - - - - -
?/? c.732G>T r.(?) p.(Lys244Asn) g.48923034G>T Copied from the Exome Variant Server CCDC120_000033 34/10558 0/6725 34/3833 - - - - - - -
?/? c.748C>T r.(?) p.(Arg250Trp) g.48923050C>T Copied from the Exome Variant Server CCDC120_000034 1/10561 1/6728 0/3833 - - - - - - -
?/? c.775C>T r.(?) p.(Arg259Trp) g.48923077C>T Copied from the Exome Variant Server CCDC120_000035 1/10560 1/6726 0/3834 - - - - - - -
?/? c.779G>A r.(?) p.(Arg260Gln) g.48923081G>A Copied from the Exome Variant Server CCDC120_000036 1/10561 1/6727 0/3834 - - - - - - -
?/? c.798T>C r.(=) p.(=) g.48923100T>C Copied from the Exome Variant Server CCDC120_000037 2/10562 0/6728 2/3834 - - - - - - -
?/? c.830G>A r.(?) p.(Arg277Gln) g.48923132G>A Copied from the Exome Variant Server CCDC120_000038 2/10563 2/6728 0/3835 - - - - - - -
?/? c.858-34A>G r.(=) p.(=) g.48923244A>G Copied from the Exome Variant Server CCDC120_000039 2/10489 0/6674 2/3815 - - - - - - -
?/? c.938C>T r.(?) p.(Ala313Val) g.48923358C>T Copied from the Exome Variant Server CCDC120_000040 1/10143 1/6432 0/3711 - - - - - - -
?/? c.956+6G>A r.(=) p.(=) g.48923382G>A Copied from the Exome Variant Server CCDC120_000041 3/10020 0/6351 3/3669 - - - - - - -
?/? c.1022C>T r.(?) p.(Ala341Val) g.48924777C>T Copied from the Exome Variant Server CCDC120_000042 1/10556 1/6722 0/3834 - - - - - - -
?/? c.1032C>T r.(=) p.(=) g.48924787C>T Copied from the Exome Variant Server CCDC120_000043 1/10554 1/6720 0/3834 - - - - - - -
?/? c.1041C>T r.(=) p.(=) g.48924796C>T Copied from the Exome Variant Server CCDC120_000044 1/10539 1/6705 0/3834 - - - - - - -
?/? c.1053C>T r.(=) p.(=) g.48924808C>T Copied from the Exome Variant Server CCDC120_000045 1/10514 0/6689 1/3825 - - - - - - -
?/? c.1103G>A r.(?) p.(Arg368Gln) g.48924858G>A Copied from the Exome Variant Server CCDC120_000046 1/10445 1/6649 0/3796 - - - - - - -
?/? c.1131G>A r.(=) p.(=) g.48924886G>A Copied from the Exome Variant Server CCDC120_000047 2/10118 0/6460 2/3658 - - - - - - -
?/? c.1141C>A r.(?) p.(Leu381Met) g.48924896C>A Copied from the Exome Variant Server CCDC120_000048 300/10124 271/6461 29/3663 - - - - - - -
?/? c.1256G>T r.(?) p.(Arg419Leu) g.48925011G>T Copied from the Exome Variant Server CCDC120_000050 1/10373 1/6614 0/3759 - - - - - - -
?/? c.1258G>A r.(?) p.(Ala420Thr) g.48925013G>A Copied from the Exome Variant Server CCDC120_000051 1/10391 0/6621 1/3770 - - - - - - -
?/? c.1260C>T r.(=) p.(=) g.48925015C>T Copied from the Exome Variant Server CCDC120_000049 1/10380 1/6612 0/3768 - - - - - - -
?/? c.1282C>A r.(?) p.(Pro428Thr) g.48925037C>A Copied from the Exome Variant Server CCDC120_000052 5/10431 5/6648 0/3783 - - - - - - -
?/? c.1351C>T r.(?) p.(Arg451Trp) g.48925106C>T Copied from the Exome Variant Server CCDC120_000053 1/10528 1/6704 0/3824 - - - - - - -
?/? c.1397C>T r.(?) p.(Pro466Leu) g.48925152C>T Copied from the Exome Variant Server CCDC120_000054 13/10532 9/6707 4/3825 - - - - - - -
?/? c.1444C>A r.(?) p.(Leu482Ile) g.48925199C>A Copied from the Exome Variant Server CCDC120_000055 13/10549 12/6718 1/3831 - - - - - - -
?/? c.1477G>A r.(?) p.(Ala493Thr) g.48925232G>A Copied from the Exome Variant Server CCDC120_000056 3/10549 3/6717 0/3832 - - - - - - -
?/? c.1504C>T r.(?) p.(Arg502Cys) g.48925259C>T Copied from the Exome Variant Server CCDC120_000057 1/10533 0/6710 1/3823 - - - - - - -
?/? c.1505G>A r.(?) p.(Arg502His) g.48925260G>A Copied from the Exome Variant Server CCDC120_000058 4/10533 0/6712 4/3821 - - - - - - -
?/? c.1506C>G r.(=) p.(=) g.48925261C>G Copied from the Exome Variant Server CCDC120_000059 1/10533 1/6712 0/3821 - - - - - - -
?/? c.1509C>T r.(=) p.(=) g.48925264C>T Copied from the Exome Variant Server CCDC120_000060 289/10530 1/6710 288/3820 - - - - - - -
?/? c.1576C>T r.(?) p.(Pro526Ser) g.48925331C>T Copied from the Exome Variant Server CCDC120_000061 2/10512 2/6700 0/3812 - - - - - - -
?/? c.1633G>A r.(?) p.(Ala545Thr) g.48925388G>A Copied from the Exome Variant Server CCDC120_000062 10/10269 8/6548 2/3721 - - - - - - -
?/? c.1710_1711insG r.(?) p.(Ala571Glyfs*26) g.48925465_48925466insG Copied from the Exome Variant Server CCDC120_000063 237/8997 155/5686 82/3311 - - - - - - -
?/? c.1723C>T r.(?) p.(Arg575Cys) g.48925478C>T Copied from the Exome Variant Server CCDC120_000064 1/9021 1/5674 0/3347 - - - - - - -
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