All transcript variants in gene CCDC22

Information The variants shown are described using the NM_014008.3 transcript reference sequence.

102 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-39G>T r.(=) p.(=) g.49092058G>T Copied from the Exome Variant Server CCDC22_000001 5/10119 0/6411 5/3708
?/? c.33G>A r.(=) p.(=) g.49092129G>A Copied from the Exome Variant Server CCDC22_000002 5/10463 0/6658 5/3805
?/? c.50+9_50+10del r.(=) p.(=) g.49092155_49092156del Copied from the Exome Variant Server CCDC22_000003 3/10028 0/6360 3/3668
?/? c.50+26C>A r.(=) p.(=) g.49092172C>A Copied from the Exome Variant Server CCDC22_000004 5/10187 3/6459 2/3728
?/? c.51-40G>A r.(=) p.(=) g.49093513G>A Copied from the Exome Variant Server CCDC22_000005 1/10563 0/6728 1/3835
?/? c.51-25T>C r.(=) p.(=) g.49093528T>C Copied from the Exome Variant Server CCDC22_000006 5933/10563 2512/6728 3421/3835
?/? c.81C>T r.(=) p.(=) g.49093583C>T Copied from the Exome Variant Server CCDC22_000007 1/10563 1/6728 0/3835
?/? c.82G>A r.(?) p.(Ala28Thr) g.49093584G>A Copied from the Exome Variant Server CCDC22_000008 1/10563 1/6728 0/3835
?/? c.84C>T r.(=) p.(=) g.49093586C>T Copied from the Exome Variant Server CCDC22_000009 1/10563 0/6728 1/3835
?/? c.142G>A r.(?) p.(Ala48Thr) g.49093644G>A Copied from the Exome Variant Server CCDC22_000010 4/10563 4/6728 0/3835
?/? c.151T>G r.(?) p.(Ser51Ala) g.49093653T>G Copied from the Exome Variant Server CCDC22_000011 3/10563 0/6728 3/3835
?/? c.228+34T>C r.(=) p.(=) g.49093764T>C Copied from the Exome Variant Server CCDC22_000012 4/10563 0/6728 4/3835
?/? c.318G>A r.(=) p.(=) g.49098571G>A Copied from the Exome Variant Server CCDC22_000013 1/10563 1/6728 0/3835
?/? c.361+17A>G r.(=) p.(=) g.49098631A>G Copied from the Exome Variant Server CCDC22_000014 5069/10563 1847/6728 3222/3835
?/? c.361+24C>T r.(=) p.(=) g.49098638C>T Copied from the Exome Variant Server CCDC22_000015 5/10563 4/6728 1/3835
?/? c.361+25G>A r.(=) p.(=) g.49098639G>A Copied from the Exome Variant Server CCDC22_000016 4/10560 0/6726 4/3834
?/? c.361+29G>A r.(=) p.(=) g.49098643G>A Copied from the Exome Variant Server CCDC22_000017 2/10560 2/6726 0/3834
?/? c.361+30C>T r.(=) p.(=) g.49098644C>T Copied from the Exome Variant Server CCDC22_000018 1/10561 1/6726 0/3835
?/? c.362-40A>C r.(=) p.(=) g.49099312A>C Copied from the Exome Variant Server CCDC22_000019 74/10449 67/6659 7/3790
?/? c.362-32C>T r.(=) p.(=) g.49099320C>T Copied from the Exome Variant Server CCDC22_000020 1/10494 0/6688 1/3806
?/? c.386C>T r.(?) p.(Ala129Val) g.49099376C>T Copied from the Exome Variant Server CCDC22_000022 1/10554 1/6722 0/3832
?/? c.389T>C r.(?) p.(Ile130Thr) g.49099379T>C Copied from the Exome Variant Server CCDC22_000021 5/10553 5/6722 0/3831
?/? c.427G>A r.(?) p.(Val143Ile) g.49099417G>A Copied from the Exome Variant Server CCDC22_000023 1/10555 1/6722 0/3833
?/? c.468+48C>T r.(=) p.(=) g.49099506C>T Copied from the Exome Variant Server CCDC22_000024 1/10524 1/6707 0/3817
?/? c.474G>A r.(=) p.(=) g.49099589G>A Copied from the Exome Variant Server CCDC22_000025 1/10563 1/6728 0/3835
?/? c.511G>A r.(?) p.(Val171Met) g.49099626G>A Copied from the Exome Variant Server CCDC22_000026 11/10563 0/6728 11/3835
?/? c.535+39del r.(=) p.(=) g.49099689del Copied from the Exome Variant Server CCDC22_000028 41/10205 22/6484 19/3721
?/? c.535+39dup r.(=) p.(=) g.49099689dup Copied from the Exome Variant Server CCDC22_000027 16/10205 9/6484 7/3721
?/? c.535+39G>T r.(=) p.(=) g.49099689G>T Copied from the Exome Variant Server CCDC22_000029 3/10563 0/6728 3/3835
?/? c.536-44C>T r.(=) p.(=) g.49099706C>T Copied from the Exome Variant Server CCDC22_000030 1/10563 1/6728 0/3835
?/? c.536-43G>A r.(=) p.(=) g.49099707G>A Copied from the Exome Variant Server CCDC22_000031 5/10563 0/6728 5/3835
?/? c.536-26C>T r.(=) p.(=) g.49099724C>T Copied from the Exome Variant Server CCDC22_000032 1/10561 0/6726 1/3835
?/? c.536-23G>C r.(=) p.(=) g.49099727G>C Copied from the Exome Variant Server CCDC22_000033 9/10563 0/6728 9/3835
?/? c.536-7C>T r.(=) p.(=) g.49099743C>T Copied from the Exome Variant Server CCDC22_000034 30/10561 27/6728 3/3833
?/? c.541C>T r.(?) p.(Arg181Trp) g.49099755C>T Copied from the Exome Variant Server CCDC22_000035 1/10560 1/6727 0/3833
?/? c.615G>A r.(=) p.(=) g.49099829G>A Copied from the Exome Variant Server CCDC22_000036 1/10557 0/6724 1/3833
?/? c.659G>A r.(?) p.(Arg220Gln) g.49099873G>A Copied from the Exome Variant Server CCDC22_000037 1/10543 1/6715 0/3828
?/? c.691C>T r.(?) p.(Arg231Trp) g.49099905C>T Copied from the Exome Variant Server CCDC22_000038 1/10537 0/6712 1/3825
?/? c.694A>C r.(?) p.(Thr232Pro) g.49099908A>C Copied from the Exome Variant Server CCDC22_000039 2/10533 2/6711 0/3822
?/? c.696A>G r.(=) p.(=) g.49099910A>G Copied from the Exome Variant Server CCDC22_000040 1/10534 0/6711 1/3823
?/? c.715-39del r.(=) p.(=) g.49103153del Copied from the Exome Variant Server CCDC22_000041 37/9693 4/6168 33/3525
?/? c.715G>A r.(?) p.(Glu239Lys) g.49103192G>A Copied from the Exome Variant Server CCDC22_000042 18/10455 15/6666 3/3789
?/? c.747G>A r.(=) p.(=) g.49103224G>A Copied from the Exome Variant Server CCDC22_000043 3915/10443 1815/6655 2100/3788
?/? c.809G>A r.(?) p.(Arg270Gln) g.49103286G>A Copied from the Exome Variant Server CCDC22_000044 3/10513 1/6709 2/3804
?/? c.828G>A r.(=) p.(=) g.49103305G>A Copied from the Exome Variant Server CCDC22_000045 2/10531 2/6719 0/3812
?/? c.901T>C r.(?) p.(Phe301Leu) g.49103378T>C Copied from the Exome Variant Server CCDC22_000046 12/10544 12/6723 0/3821
?/? c.926C>A r.(?) p.(Ala309Asp) g.49103973C>A Copied from the Exome Variant Server CCDC22_000047 1/10531 0/6720 1/3811
?/? c.962G>A r.(?) p.(Arg321Gln) g.49104009G>A Copied from the Exome Variant Server CCDC22_000048 8/10535 8/6718 0/3817
?/? c.972+20G>C r.(=) p.(=) g.49104039G>C Copied from the Exome Variant Server CCDC22_000049 54/10508 1/6708 53/3800
?/? c.973-28C>T r.(=) p.(=) g.49104082C>T Copied from the Exome Variant Server CCDC22_000050 1/10480 0/6694 1/3786
?/? c.978G>A r.(=) p.(=) g.49104115G>A Copied from the Exome Variant Server CCDC22_000051 1/10519 1/6707 0/3812
?/? c.1037G>A r.(?) p.(Arg346His) g.49104174G>A Copied from the Exome Variant Server CCDC22_000052 1/10554 1/6723 0/3831
?/? c.1070C>G r.(?) p.(Thr357Ser) g.49104207C>G Copied from the Exome Variant Server CCDC22_000053 29/10559 0/6727 29/3832
?/? c.1078G>A r.(?) p.(Val360Ile) g.49104215G>A Copied from the Exome Variant Server CCDC22_000054 2/10559 2/6727 0/3832
?/? c.1092+27T>C r.(=) p.(=) g.49104256T>C Copied from the Exome Variant Server CCDC22_000055 2/10555 0/6726 2/3829
?/? c.1093-39A>G r.(=) p.(=) g.49104613A>G Copied from the Exome Variant Server CCDC22_000056 1/10516 1/6699 0/3817
?/? c.1093-24T>C r.(=) p.(=) g.49104628T>C Copied from the Exome Variant Server CCDC22_000057 11/10537 11/6708 0/3829
?/? c.1109G>A r.(?) p.(Arg370Gln) g.49104668G>A Copied from the Exome Variant Server CCDC22_000058 1/10553 1/6721 0/3832
?/? c.1113C>T r.(=) p.(=) g.49104672C>T Copied from the Exome Variant Server CCDC22_000059 2/10556 2/6724 0/3832
?/? c.1135C>T r.(?) p.(Arg379Cys) g.49104694C>T Copied from the Exome Variant Server CCDC22_000060 1/10553 1/6721 0/3832
?/? c.1150C>T r.(?) p.(Arg384Cys) g.49104709C>T Copied from the Exome Variant Server CCDC22_000061 37/10549 31/6721 6/3828
?/? c.1161C>G r.(?) p.(Ser387Arg) g.49104720C>G Copied from the Exome Variant Server CCDC22_000062 1/10545 0/6718 1/3827
?/? c.1163G>A r.(?) p.(Arg388His) g.49104722G>A Copied from the Exome Variant Server CCDC22_000063 58/10537 2/6715 56/3822
?/? c.1167G>A r.(=) p.(=) g.49104726G>A Copied from the Exome Variant Server CCDC22_000064 1/10535 1/6716 0/3819
?/? c.1171G>C r.(?) p.(Glu391Gln) g.49104730G>C Copied from the Exome Variant Server CCDC22_000065 3/10536 3/6716 0/3820
?/? c.1212+24C>T r.(=) p.(=) g.49104795C>T Copied from the Exome Variant Server CCDC22_000066 1/10425 1/6644 0/3781
?/? c.1212+44T>C r.(=) p.(=) g.49104815T>C Copied from the Exome Variant Server CCDC22_000067 5448/10477 3910/6669 1538/3808
?/? c.1213-38G>A r.(=) p.(=) g.49104830G>A Copied from the Exome Variant Server CCDC22_000068 1/10554 1/6721 0/3833
?/? c.1213-11_1213-10insC r.(=) p.(=) g.49104857_49104858insC Copied from the Exome Variant Server CCDC22_000069 1/10204 1/6484 0/3720
?/? c.1213-9C>T r.(=) p.(=) g.49104859C>T Copied from the Exome Variant Server CCDC22_000070 6/10562 0/6728 6/3834
?/? c.1216G>T r.(?) p.(Val406Leu) g.49104871G>T Copied from the Exome Variant Server CCDC22_000071 3/10562 3/6728 0/3834
?/? c.1238G>A r.(?) p.(Arg413Gln) g.49104893G>A Copied from the Exome Variant Server CCDC22_000072 1/10561 1/6727 0/3834
?/? c.1287C>T r.(=) p.(=) g.49104942C>T Copied from the Exome Variant Server CCDC22_000073 2/10561 1/6727 1/3834
?/? c.1288G>A r.(?) p.(Ala430Thr) g.49104943G>A Copied from the Exome Variant Server CCDC22_000074 56/10561 54/6727 2/3834
?/? c.1327G>C r.(?) p.(Glu443Gln) g.49104982G>C Copied from the Exome Variant Server CCDC22_000075 1/10558 1/6726 0/3832
?/? c.1329+28C>T r.(=) p.(=) g.49105012C>T Copied from the Exome Variant Server CCDC22_000076 2/10547 0/6719 2/3828
?/? c.1330-37C>G r.(=) p.(=) g.49105057C>G Copied from the Exome Variant Server CCDC22_000077 1/10554 0/6720 1/3834
?/? c.1350G>A r.(=) p.(=) g.49105114G>A Copied from the Exome Variant Server CCDC22_000078 2/10551 2/6722 0/3829
?/? c.1369C>T r.(?) p.(His457Tyr) g.49105133C>T Copied from the Exome Variant Server CCDC22_000079 1/10552 0/6724 1/3828
?/? c.1382G>A r.(?) p.(Arg461Gln) g.49105146G>A Copied from the Exome Variant Server CCDC22_000080 1/10555 1/6725 0/3830
?/? c.1386G>A r.(=) p.(=) g.49105150G>A Copied from the Exome Variant Server CCDC22_000081 1/10554 0/6724 1/3830
?/? c.1432-32C>T r.(=) p.(=) g.49105246C>T Copied from the Exome Variant Server CCDC22_000082 1/10555 0/6724 1/3831
?/? c.1432-8_1432-7insT r.(=) p.(=) g.49105270_49105271insT Copied from the Exome Variant Server CCDC22_000083 1/10201 0/6482 1/3719
?/? c.1514G>A r.(?) p.(Arg505Gln) g.49105360G>A Copied from the Exome Variant Server CCDC22_000084 2/10561 0/6728 2/3833
?/? c.1539+18T>C r.(=) p.(=) g.49105403T>C Copied from the Exome Variant Server CCDC22_000085 2/10556 1/6723 1/3833
?/? c.1539+23G>A r.(=) p.(=) g.49105408G>A Copied from the Exome Variant Server CCDC22_000086 79/10558 1/6725 78/3833
?/? c.1539+51T>A r.(=) p.(=) g.49105436T>A Copied from the Exome Variant Server CCDC22_000088 1/10554 1/6722 0/3832
?/? c.1540-18T>C r.(=) p.(=) g.49105610T>C Copied from the Exome Variant Server CCDC22_000089 5531/10559 3974/6725 1557/3834
?/? c.1600C>T r.(?) p.(Arg534Trp) g.49105688C>T Copied from the Exome Variant Server CCDC22_000091 1/10563 1/6728 0/3835
?/? c.1611G>A r.(=) p.(=) g.49105699G>A Copied from the Exome Variant Server CCDC22_000093 1/10563 1/6728 0/3835
?/? c.1636-36C>A r.(=) p.(=) g.49105934C>A Copied from the Exome Variant Server CCDC22_000095 1/10563 1/6728 0/3835
?/? c.1636G>A r.(?) p.(Asp546Asn) g.49105970G>A Copied from the Exome Variant Server CCDC22_000097 50/10563 47/6728 3/3835
?/? c.1693G>A r.(?) p.(Glu565Lys) g.49106027G>A Copied from the Exome Variant Server CCDC22_000099 1/10563 0/6728 1/3835
?/? c.1696-28G>A r.(=) p.(=) g.49106084G>A Copied from the Exome Variant Server CCDC22_000100 25/10561 0/6727 25/3834
?/? c.1726G>A r.(?) p.(Asp576Asn) g.49106142G>A Copied from the Exome Variant Server CCDC22_000101 3/10562 0/6727 3/3835
?/? c.1738A>G r.(?) p.(Ile580Val) g.49106154A>G Copied from the Exome Variant Server CCDC22_000102 1/10562 1/6727 0/3835
?/? c.1744C>A r.(=) p.(=) g.49106160C>A Copied from the Exome Variant Server CCDC22_000087 1/10562 1/6727 0/3835
?/? c.1770+6G>A r.(=) p.(=) g.49106192G>A Copied from the Exome Variant Server CCDC22_000090 1/10561 1/6728 0/3833
?/? c.1770+33C>T r.(=) p.(=) g.49106219C>T Copied from the Exome Variant Server CCDC22_000092 19/10553 1/6724 18/3829
?/? c.1810G>A r.(?) p.(Glu604Lys) g.49106648G>A Copied from the Exome Variant Server CCDC22_000094 1/10140 0/6453 1/3687
Legend   « First ‹ Prev     1 2     Next › Last »