All transcript variants in gene CTPS2

Information The variants shown are described using the NM_019857.3 transcript reference sequence.

89 entries on 1 page. Showing entries 1 - 89.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.21G>A r.(=) p.(=) g.16721005C>T Copied from the Exome Variant Server CTPS2_000089 1/10563 1/6728 0/3835
?/? c.167-9T>C r.(=) p.(=) g.16717225A>G Copied from the Exome Variant Server CTPS2_000088 15/10558 13/6727 2/3831
?/? c.204T>C r.(=) p.(=) g.16717179A>G Copied from the Exome Variant Server CTPS2_000087 1/10563 0/6728 1/3835
?/? c.269C>T r.(?) p.(Thr90Met) g.16717114G>A Copied from the Exome Variant Server CTPS2_000086 2/10563 1/6728 1/3835
?/? c.308G>A r.(?) p.(Arg103His) g.16717075C>T Copied from the Exome Variant Server CTPS2_000085 33/10563 30/6728 3/3835
?/? c.337+18C>T r.(=) p.(=) g.16717028G>A Copied from the Exome Variant Server CTPS2_000084 1/10563 0/6728 1/3835
?/? c.337+43A>G r.(=) p.(=) g.16717003T>C Copied from the Exome Variant Server CTPS2_000083 3/10563 0/6728 3/3835
?/? c.338-39G>A r.(=) p.(=) g.16716498C>T Copied from the Exome Variant Server CTPS2_000082 1/10563 0/6728 1/3835
?/? c.338-23T>C r.(=) p.(=) g.16716482A>G Copied from the Exome Variant Server CTPS2_000080 3/10563 0/6728 3/3835
?/? c.429C>T r.(=) p.(=) g.16716368G>A Copied from the Exome Variant Server CTPS2_000078 1/10563 1/6728 0/3835
?/? c.438+22T>G r.(=) p.(=) g.16716337A>C Copied from the Exome Variant Server CTPS2_000076 1/10563 1/6728 0/3835
?/? c.439-26T>G r.(=) p.(=) g.16711636A>C Copied from the Exome Variant Server CTPS2_000074 2/10563 2/6728 0/3835
?/? c.439-15G>T r.(=) p.(=) g.16711625C>A Copied from the Exome Variant Server CTPS2_000072 8/10563 0/6728 8/3835
?/? c.447C>A r.(=) p.(=) g.16711602G>T Copied from the Exome Variant Server CTPS2_000070 3/10563 0/6728 3/3835
?/? c.474G>C r.(=) p.(=) g.16711575C>G Copied from the Exome Variant Server CTPS2_000081 1/10563 1/6728 0/3835
?/? c.537C>T r.(=) p.(=) g.16711512G>A Copied from the Exome Variant Server CTPS2_000079 2/10563 1/6728 1/3835
?/? c.556-20G>A r.(=) p.(=) g.16711367C>T Copied from the Exome Variant Server CTPS2_000077 67/10563 4/6728 63/3835
?/? c.602T>C r.(?) p.(Val201Ala) g.16711301A>G Copied from the Exome Variant Server CTPS2_000075 1/10563 0/6728 1/3835
?/? c.639+13C>T r.(=) p.(=) g.16711251G>A Copied from the Exome Variant Server CTPS2_000073 1/10563 1/6728 0/3835
?/? c.639+31T>A r.(=) p.(=) g.16711233A>T Copied from the Exome Variant Server CTPS2_000071 1/10563 0/6728 1/3835
?/? c.640-29G>C r.(=) p.(=) g.16709772C>G Copied from the Exome Variant Server CTPS2_000069 1/10563 1/6728 0/3835
?/? c.640-10G>A r.(=) p.(=) g.16709753C>T Copied from the Exome Variant Server CTPS2_000068 1/10563 1/6728 0/3835
?/? c.659C>T r.(?) p.(Thr220Met) g.16709724G>A Copied from the Exome Variant Server CTPS2_000067 1/10563 0/6728 1/3835
?/? c.720+37C>T r.(=) p.(=) g.16709626G>A Copied from the Exome Variant Server CTPS2_000066 6130/10563 2873/6728 3257/3835
?/? c.720+50G>A r.(=) p.(=) g.16709613C>T Copied from the Exome Variant Server CTPS2_000065 1/10563 0/6728 1/3835
?/? c.721-27G>C r.(=) p.(=) g.16707751C>G Copied from the Exome Variant Server CTPS2_000064 8/10563 8/6728 0/3835
?/? c.721-9G>A r.(=) p.(=) g.16707733C>T Copied from the Exome Variant Server CTPS2_000063 1/10563 1/6728 0/3835
?/? c.810G>C r.(?) p.(Leu270Phe) g.16707635C>G Copied from the Exome Variant Server CTPS2_000062 1/10563 1/6728 0/3835
?/? c.872+6C>T r.(=) p.(=) g.16707567G>A Copied from the Exome Variant Server CTPS2_000061 1/10563 0/6728 1/3835
?/? c.872+7G>A r.(=) p.(=) g.16707566C>T Copied from the Exome Variant Server CTPS2_000060 4/10563 0/6728 4/3835
?/? c.872+44G>C r.(=) p.(=) g.16707529C>G Copied from the Exome Variant Server CTPS2_000059 2/10552 2/6721 0/3831
?/? c.872+47del r.(=) p.(=) g.16707526del Copied from the Exome Variant Server CTPS2_000058 1/10180 1/6475 0/3705
?/? c.912T>G r.(=) p.(=) g.16701310A>C Copied from the Exome Variant Server CTPS2_000056 1/10563 1/6728 0/3835
?/? c.942C>T r.(=) p.(=) g.16701280G>A Copied from the Exome Variant Server CTPS2_000054 2/10563 0/6728 2/3835
?/? c.943G>A r.(?) p.(Ala315Thr) g.16701279C>T Copied from the Exome Variant Server CTPS2_000052 5/10563 4/6728 1/3835
?/? c.973G>T r.(?) p.(Ala325Ser) g.16701249C>A Copied from the Exome Variant Server CTPS2_000050 1/10563 1/6728 0/3835
?/? c.1005+10G>C r.(=) p.(=) g.16701207C>G Copied from the Exome Variant Server CTPS2_000048 1/10563 1/6728 0/3835
?/? c.1025T>C r.(?) p.(Leu342Pro) g.16696554A>G Copied from the Exome Variant Server CTPS2_000046 1/10563 1/6728 0/3835
?/? c.1043C>T r.(?) p.(Thr348Ile) g.16696536G>A Copied from the Exome Variant Server CTPS2_000044 2/10563 1/6728 1/3835
?/? c.1094+18C>T r.(=) p.(=) g.16696467G>A Copied from the Exome Variant Server CTPS2_000057 15/10561 0/6726 15/3835
?/? c.1094+41A>T r.(=) p.(=) g.16696444T>A Copied from the Exome Variant Server CTPS2_000055 1/10548 1/6717 0/3831
?/? c.1095-40del r.(=) p.(=) g.16688837del Copied from the Exome Variant Server CTPS2_000053 233/10202 159/6483 74/3719
?/? c.1095-40dup r.(=) p.(=) g.16688837dup Copied from the Exome Variant Server CTPS2_000051 673/10202 28/6483 645/3719
?/? c.1095-37G>A r.(=) p.(=) g.16688834C>T Copied from the Exome Variant Server CTPS2_000049 1/10563 1/6728 0/3835
?/? c.1149G>C r.(?) p.(Gln383His) g.16688743C>G Copied from the Exome Variant Server CTPS2_000047 1/10563 1/6728 0/3835
?/? c.1189+22C>T r.(=) p.(=) g.16688681G>A Copied from the Exome Variant Server CTPS2_000045 3/10563 3/6728 0/3835
?/? c.1189+25A>G r.(=) p.(=) g.16688678T>C Copied from the Exome Variant Server CTPS2_000043 7/10563 7/6728 0/3835
?/? c.1189+42A>G r.(=) p.(=) g.16688661T>C Copied from the Exome Variant Server CTPS2_000042 3/10563 3/6728 0/3835
?/? c.1252+9G>A r.(=) p.(=) g.16685776C>T Copied from the Exome Variant Server CTPS2_000041 1/10563 1/6728 0/3835
?/? c.1252+32T>G r.(=) p.(=) g.16685753A>C Copied from the Exome Variant Server CTPS2_000040 70/10561 0/6726 70/3835
?/? c.1253-15T>G r.(=) p.(=) g.16685695A>C Copied from the Exome Variant Server CTPS2_000039 70/10563 0/6728 70/3835
?/? c.1296+8G>T r.(=) p.(=) g.16685629C>A Copied from the Exome Variant Server CTPS2_000038 1/10563 1/6728 0/3835
?/? c.1296+25G>T r.(=) p.(=) g.16685612C>A Copied from the Exome Variant Server CTPS2_000037 1/10563 0/6728 1/3835
?/? c.1296+44G>C r.(=) p.(=) g.16685593C>G Copied from the Exome Variant Server CTPS2_000036 1/10563 0/6728 1/3835
?/? c.1296+12962G>A r.(=) p.(=) g.16672675C>T Copied from the Exome Variant Server CTPS2_000035 1/10561 1/6726 0/3835
?/? c.1296+12964G>A r.(=) p.(=) g.16672673C>T Copied from the Exome Variant Server CTPS2_000034 2/10563 2/6728 0/3835
?/? c.1296+13002C>T r.(=) p.(=) g.16672635G>A Copied from the Exome Variant Server CTPS2_000033 52/10561 0/6726 52/3835
?/? c.1296+13035G>A r.(=) p.(=) g.16672602C>T Copied from the Exome Variant Server CTPS2_000032 1/10563 0/6728 1/3835
?/? c.1296+13039T>G r.(?) p.(Glu69Ala) g.16672598A>C Copied from the Exome Variant Server CTPS2_000031 3/10563 0/6728 3/3835
?/? c.1296+13112G>A r.(=) p.(=) g.16672525C>T Copied from the Exome Variant Server CTPS2_000030 1/10563 1/6728 0/3835
?/? c.1296+13121A>T r.(=) p.(=) g.16672516T>A Copied from the Exome Variant Server CTPS2_000028 1/10563 1/6728 0/3835
?/? c.1296+13153_1296+13154insA r.(=) p.(=) g.16672483_16672484insT Copied from the Exome Variant Server CTPS2_000026 2/10203 0/6482 2/3721
?/? c.1297-11757G>A r.(=) p.(=) g.16669123C>T Copied from the Exome Variant Server CTPS2_000023 273/10563 240/6728 33/3835
?/? c.1297-11754T>C r.(=) p.(=) g.16669120A>G Copied from the Exome Variant Server CTPS2_000021 454/10563 5/6728 449/3835
?/? c.1297-24del r.(=) p.(=) g.16657390del Copied from the Exome Variant Server CTPS2_000029 5/10205 2/6484 3/3721
?/? c.1311C>G r.(=) p.(=) g.16657352G>C Copied from the Exome Variant Server CTPS2_000027 2/10563 0/6728 2/3835
?/? c.1373A>G r.(?) p.(Lys458Arg) g.16657290T>C Copied from the Exome Variant Server CTPS2_000025 1/10563 1/6728 0/3835
?/? c.1393+46C>T r.(=) p.(=) g.16657224G>A Copied from the Exome Variant Server CTPS2_000024 2/10562 2/6728 0/3834
?/? c.1393+149C>T r.(=) p.(=) g.16657121G>A Copied from the Exome Variant Server CTPS2_000022 15/4523 0/3105 15/1418
?/? c.1393+231C>T r.(=) p.(=) g.16657039G>A Copied from the Exome Variant Server CTPS2_000020 1/4525 1/3107 0/1418
?/? c.1393+285C>T r.(=) p.(=) g.16656985G>A Copied from the Exome Variant Server CTPS2_000019 3/4525 3/3107 0/1418
?/? c.1393+375C>T r.(=) p.(=) g.16656895G>A Copied from the Exome Variant Server CTPS2_000018 3/4525 3/3107 0/1418
?/? c.1394-18G>A r.(=) p.(=) g.16638473C>T Copied from the Exome Variant Server CTPS2_000017 334/10563 3/6728 331/3835
?/? c.1414C>T r.(?) p.(Pro472Ser) g.16638435G>A Copied from the Exome Variant Server CTPS2_000016 1/10563 1/6728 0/3835
?/? c.1419T>G r.(?) p.(Phe473Leu) g.16638430A>C Copied from the Exome Variant Server CTPS2_000015 1/10563 0/6728 1/3835
?/? c.1449+4C>T r.spl? p.? g.16638396G>A Copied from the Exome Variant Server CTPS2_000014 1/10563 0/6728 1/3835
?/? c.1449+64C>T r.(=) p.(=) g.16638336G>A Copied from the Exome Variant Server CTPS2_000013 1/3600 1/2391 0/1209
?/? c.1450-30C>T r.(=) p.(=) g.16635399G>A Copied from the Exome Variant Server CTPS2_000012 1/10563 1/6728 0/3835
?/? c.1546+42C>T r.(=) p.(=) g.16635231G>A Copied from the Exome Variant Server CTPS2_000011 1/10563 1/6728 0/3835
?/? c.1547-14T>G r.(=) p.(=) g.16627822A>C Copied from the Exome Variant Server CTPS2_000010 1/10563 1/6728 0/3835
?/? c.1547-14_1547-11del r.(=) p.(=) g.16627819_16627822del Copied from the Exome Variant Server CTPS2_000009 1/10205 0/6484 1/3721
?/? c.1599G>A r.(=) p.(=) g.16627756C>T Copied from the Exome Variant Server CTPS2_000008 811/10563 121/6728 690/3835
?/? c.1617G>A r.(=) p.(=) g.16627738C>T Copied from the Exome Variant Server CTPS2_000007 1/10563 0/6728 1/3835
?/? c.1626G>C r.(=) p.(=) g.16627729C>G Copied from the Exome Variant Server CTPS2_000006 25/10563 0/6728 25/3835
?/? c.1683G>A r.(=) p.(=) g.16627672C>T Copied from the Exome Variant Server CTPS2_000005 1/10563 1/6728 0/3835
?/? c.1690A>G r.(?) p.(Ser564Gly) g.16627665T>C Copied from the Exome Variant Server CTPS2_000004 1/10563 1/6728 0/3835
?/? c.1742C>G r.(?) p.(Ala581Gly) g.16608935G>C Copied from the Exome Variant Server CTPS2_000003 1/10563 1/6728 0/3835
?/? c.*13_*25del r.(=) p.(=) g.16608891_16608903del Copied from the Exome Variant Server CTPS2_000002 22/10205 15/6484 7/3721
?/? c.*41+24G>C r.(=) p.(=) g.16608851C>G Copied from the Exome Variant Server CTPS2_000001 62/3600 2/2391 60/1209
Legend