Full data view for gene RPS6KA3

Information The variants shown are described using the NM_004586.2 transcript reference sequence.

75 entries on 1 page. Showing entries 1 - 75.
Legend  

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.70-74_70-73insTT r.(=) p.(=) g.20253005_20253006insAA Copied from the Exome Variant Server RPS6KA3_000075 682/10165 438/6453 244/3712 - - - - - - -
?/? c.70-73del r.(=) p.(=) g.20253005del Copied from the Exome Variant Server RPS6KA3_000074 2392/10165 1578/6453 814/3712 - - - - - - -
?/? c.70-73dup r.(=) p.(=) g.20253005dup Copied from the Exome Variant Server RPS6KA3_000073 1693/10165 1127/6453 566/3712 - - - - - - -
?/? c.70-20G>A r.(=) p.(=) g.20252952C>T Copied from the Exome Variant Server RPS6KA3_000072 2/10563 0/6728 2/3835 - - - - - - -
?/? c.70-19C>T r.(=) p.(=) g.20252951G>A Copied from the Exome Variant Server RPS6KA3_000071 1/10563 0/6728 1/3835 - - - - - - -
?/? c.113T>G r.(?) p.(Ile38Ser) g.20252889A>C Copied from the Exome Variant Server RPS6KA3_000070 210/10563 188/6728 22/3835 - - - - - - -
?/? c.126+13T>C r.(=) p.(=) g.20252863A>G Copied from the Exome Variant Server RPS6KA3_000069 2/10562 0/6727 2/3835 - - - - - - -
?/? c.126+21C>T r.(=) p.(=) g.20252855G>A Copied from the Exome Variant Server RPS6KA3_000068 1/10562 1/6727 0/3835 - - - - - - -
?/? c.126+39_126+43del r.(=) p.(=) g.20252833_20252837del Copied from the Exome Variant Server RPS6KA3_000067 4/10204 2/6483 2/3721 - - - - - - -
?/? c.127-9440G>A r.(=) p.(=) g.20236962C>T Copied from the Exome Variant Server RPS6KA3_000066 1/4525 1/3107 0/1418 - - - - - - -
?/? c.127-40T>G r.(=) p.(=) g.20227562A>C Copied from the Exome Variant Server RPS6KA3_000065 3/10563 3/6728 0/3835 - - - - - - -
?/? c.139A>G r.(?) p.(Ile47Val) g.20227510T>C Copied from the Exome Variant Server RPS6KA3_000064 11/10563 10/6728 1/3835 - - - - - - -
?/? c.213A>G r.(=) p.(=) g.20227436T>C Copied from the Exome Variant Server RPS6KA3_000063 38/10563 35/6728 3/3835 - - - - - - -
?/? c.243+12G>A r.(=) p.(=) g.20227394C>T Copied from the Exome Variant Server RPS6KA3_000062 1/10563 0/6728 1/3835 - - - - - - -
?/? c.244-22A>G r.(=) p.(=) g.20222243T>C Copied from the Exome Variant Server RPS6KA3_000061 28/10563 2/6728 26/3835 - - - - - - -
?/? c.264C>G r.(?) p.(Ile88Met) g.20222201G>C Copied from the Exome Variant Server RPS6KA3_000060 1/10563 0/6728 1/3835 - - - - - - -
?/? c.325+12T>C r.(=) p.(=) g.20222128A>G Copied from the Exome Variant Server RPS6KA3_000059 1/10563 1/6728 0/3835 - - - - - - -
?/? c.325+14C>T r.(=) p.(=) g.20222126G>A Copied from the Exome Variant Server RPS6KA3_000058 1/10563 1/6728 0/3835 - - - - - - -
?/? c.325+16A>G r.(=) p.(=) g.20222124T>C Copied from the Exome Variant Server RPS6KA3_000057 1/10563 0/6728 1/3835 - - - - - - -
?/? c.325+55T>C r.(=) p.(=) g.20222085A>G Copied from the Exome Variant Server RPS6KA3_000056 6/3600 0/2391 6/1209 - - - - - - -
?/? c.326-52A>G r.(=) p.(=) g.20213315T>C Copied from the Exome Variant Server RPS6KA3_000055 1/6037 0/3620 1/2417 - - - - - - -
?/? c.327T>A r.(=) p.(=) g.20213262A>T Copied from the Exome Variant Server RPS6KA3_000054 1/10563 0/6728 1/3835 - - - - - - -
?/? c.337G>A r.(?) p.(Val113Ile) g.20213252C>T Copied from the Exome Variant Server RPS6KA3_000053 1/10563 0/6728 1/3835 - - - - - - -
?/? c.406+12C>A r.(=) p.(=) g.20213171G>T Copied from the Exome Variant Server RPS6KA3_000052 1/10563 1/6728 0/3835 - - - - - - -
?/? c.407-38A>G r.(=) p.(=) g.20212424T>C Copied from the Exome Variant Server RPS6KA3_000051 18/10497 17/6692 1/3805 - - - - - - -
?/? c.543A>G r.(=) p.(=) g.20211655T>C Copied from the Exome Variant Server RPS6KA3_000050 1/10562 0/6727 1/3835 - - - - - - -
?/? c.555T>C r.(=) p.(=) g.20211643A>G Copied from the Exome Variant Server RPS6KA3_000049 1/10562 0/6727 1/3835 - - - - - - -
?/? c.586C>T r.(?) p.(Pro196Ser) g.20211612G>A Copied from the Exome Variant Server RPS6KA3_000048 1/10562 1/6727 0/3835 - - - - - - -
?/? c.593+7A>C r.(=) p.(=) g.20211598T>G Copied from the Exome Variant Server RPS6KA3_000047 1/10560 1/6725 0/3835 - - - - - - -
?/? c.593+11A>G r.(=) p.(=) g.20211594T>C Copied from the Exome Variant Server RPS6KA3_000046 2/10560 2/6725 0/3835 - - - - - - -
?/? c.594-4_594-3insT r.spl? p.? g.20206655_20206656insA Copied from the Exome Variant Server RPS6KA3_000045 13/10077 3/6419 10/3658 - - - - - - -
?/? c.631+12del r.(=) p.(=) g.20206603del Copied from the Exome Variant Server RPS6KA3_000044 524/10023 357/6387 167/3636 - - - - - - -
?/? c.631+12dup r.(=) p.(=) g.20206603dup Copied from the Exome Variant Server RPS6KA3_000043 108/10023 67/6387 41/3636 - - - - - - -
?/? c.631+18G>A r.(=) p.(=) g.20206597C>T Copied from the Exome Variant Server RPS6KA3_000041 3/10377 2/6633 1/3744 - - - - - - -
?/? c.632-50A>T r.(=) p.(=) g.20206138T>A Copied from the Exome Variant Server RPS6KA3_000039 2/10562 2/6727 0/3835 - - - - - - -
?/? c.632-44A>G r.(=) p.(=) g.20206132T>C Copied from the Exome Variant Server RPS6KA3_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.632-43T>A r.(=) p.(=) g.20206131A>T Copied from the Exome Variant Server RPS6KA3_000035 1/10563 0/6728 1/3835 - - - - - - -
?/? c.774+28A>G r.(=) p.(=) g.20205918T>C Copied from the Exome Variant Server RPS6KA3_000033 321/10563 17/6728 304/3835 - - - - - - -
?/? c.775-16T>C r.(=) p.(=) g.20204500A>G Copied from the Exome Variant Server RPS6KA3_000031 1/10561 1/6728 0/3833 - - - - - - -
?/? c.798C>A r.(=) p.(=) g.20204461G>T Copied from the Exome Variant Server RPS6KA3_000042 2976/10562 1140/6727 1836/3835 - - - - - - -
?/? c.846-35C>T r.(=) p.(=) g.20195237G>A Copied from the Exome Variant Server RPS6KA3_000040 1/10535 0/6718 1/3817 - - - - - - -
?/? c.846-6A>G r.(=) p.(=) g.20195208T>C Copied from the Exome Variant Server RPS6KA3_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.934+52_934+53del r.(=) p.(=) g.20195061_20195062del Copied from the Exome Variant Server RPS6KA3_000036 39/10198 20/6478 19/3720 - - - - - - -
?/? c.935-24T>G r.(=) p.(=) g.20194640A>C Copied from the Exome Variant Server RPS6KA3_000034 6/10520 0/6704 6/3816 - - - - - - -
?/? c.935-21C>T r.(=) p.(=) g.20194637G>A Copied from the Exome Variant Server RPS6KA3_000032 1/10526 1/6707 0/3819 - - - - - - -
?/? c.1000-18T>G r.(=) p.(=) g.20194488A>C Copied from the Exome Variant Server RPS6KA3_000030 2/10552 1/6725 1/3827 - - - - - - -
?/? c.1023T>C r.(=) p.(=) g.20194447A>G Copied from the Exome Variant Server RPS6KA3_000029 17/10563 0/6728 17/3835 - - - - - - -
?/? c.1080G>A r.(=) p.(=) g.20194390C>T Copied from the Exome Variant Server RPS6KA3_000028 73/10563 0/6728 73/3835 - - - - - - -
?/? c.1102+33A>G r.(=) p.(=) g.20194335T>C Copied from the Exome Variant Server RPS6KA3_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1102+40A>G r.(=) p.(=) g.20194328T>C Copied from the Exome Variant Server RPS6KA3_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1187G>A r.(?) p.(Ser396Asn) g.20193322C>T Copied from the Exome Variant Server RPS6KA3_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1219A>G r.(?) p.(Ile407Val) g.20193290T>C Copied from the Exome Variant Server RPS6KA3_000024 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1227+14T>C r.(=) p.(=) g.20193268A>G Copied from the Exome Variant Server RPS6KA3_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1227+18T>C r.(=) p.(=) g.20193264A>G Copied from the Exome Variant Server RPS6KA3_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1228-39G>A r.(=) p.(=) g.20191028C>T Copied from the Exome Variant Server RPS6KA3_000021 1/10552 1/6721 0/3831 - - - - - - -
?/? c.1242C>T r.(=) p.(=) g.20190975G>A Copied from the Exome Variant Server RPS6KA3_000020 2/10557 2/6724 0/3833 - - - - - - -
?/? c.1246A>G r.(?) p.(Ile416Val) g.20190971T>C Copied from the Exome Variant Server RPS6KA3_000019 3/10556 0/6723 3/3833 - - - - - - -
?/? c.1296C>T r.(=) p.(=) g.20190921G>A Copied from the Exome Variant Server RPS6KA3_000018 1/10554 1/6720 0/3834 - - - - - - -
?/? c.1353+13_1353+14insT r.(=) p.(=) g.20190850_20190851insA Copied from the Exome Variant Server RPS6KA3_000017 15/9922 12/6309 3/3613 - - - - - - -
?/? c.1354-41G>C r.(=) p.(=) g.20187650C>G Copied from the Exome Variant Server RPS6KA3_000016 2/10551 0/6722 2/3829 - - - - - - -
?/? c.1354-17A>C r.(=) p.(=) g.20187626T>G Copied from the Exome Variant Server RPS6KA3_000015 1/10557 0/6724 1/3833 - - - - - - -
?/? c.1444-44T>G r.(=) p.(=) g.20185909A>C Copied from the Exome Variant Server RPS6KA3_000014 6/10487 6/6704 0/3783 - - - - - - -
?/? c.1602+44T>C r.(=) p.(=) g.20185663A>G Copied from the Exome Variant Server RPS6KA3_000013 2/10561 0/6726 2/3835 - - - - - - -
?/? c.1603-51A>G r.(=) p.(=) g.20183229T>C Copied from the Exome Variant Server RPS6KA3_000012 1/10553 1/6722 0/3831 - - - - - - -
?/? c.1620G>A r.(=) p.(=) g.20183161C>T Copied from the Exome Variant Server RPS6KA3_000011 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1710G>A r.(=) p.(=) g.20183071C>T Copied from the Exome Variant Server RPS6KA3_000010 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1765-45A>G r.(=) p.(=) g.20181203T>C Copied from the Exome Variant Server RPS6KA3_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1842-34T>C r.(=) p.(=) g.20179913A>G Copied from the Exome Variant Server RPS6KA3_000008 10/9290 10/5985 0/3305 - - - - - - -
?/? c.1884A>T r.(?) p.(Glu628Asp) g.20179837T>A Copied from the Exome Variant Server RPS6KA3_000007 12/10563 0/6728 12/3835 - - - - - - -
?/? c.1989C>T r.(=) p.(=) g.20174338G>A Copied from the Exome Variant Server RPS6KA3_000006 59/10563 1/6728 58/3835 - - - - - - -
?/? c.2037C>T r.(=) p.(=) g.20174290G>A Copied from the Exome Variant Server RPS6KA3_000005 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2100+37C>T r.(=) p.(=) g.20174190G>A Copied from the Exome Variant Server RPS6KA3_000004 17/10563 0/6728 17/3835 - - - - - - -
?/? c.2168G>A r.(?) p.(Arg723His) g.20173571C>T Copied from the Exome Variant Server RPS6KA3_000003 10/10563 9/6728 1/3835 - - - - - - -
?/? c.2205C>T r.(=) p.(=) g.20173534G>A Copied from the Exome Variant Server RPS6KA3_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*22G>A r.(=) p.(=) g.20173494C>T Copied from the Exome Variant Server RPS6KA3_000001 2/10563 2/6728 0/3835 - - - - - - -
Legend