All transcript variants in gene BTK

Information The variants shown are described using the NM_000061.2 transcript reference sequence.

83 entries on 1 page. Showing entries 1 - 83.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-30-6C>T r.(=) p.(=) g.100630308G>A Copied from the Exome Variant Server BTK_000083 1/10563 0/6728 1/3835
?/? c.7G>A r.(?) p.(Ala3Thr) g.100630266C>T Copied from the Exome Variant Server BTK_000082 1/10563 1/6728 0/3835
?/? c.100G>A r.(?) p.(Val34Met) g.100630173C>T Copied from the Exome Variant Server BTK_000081 1/10563 1/6728 0/3835
?/? c.141+11C>T r.(=) p.(=) g.100630121G>A Copied from the Exome Variant Server BTK_000080 66/10563 62/6728 4/3835
?/? c.141+24T>C r.(=) p.(=) g.100630108A>G Copied from the Exome Variant Server BTK_000079 1/10563 0/6728 1/3835
?/? c.141+49G>T r.(=) p.(=) g.100630083C>A Copied from the Exome Variant Server BTK_000078 2/10563 0/6728 2/3835
?/? c.142-51del r.(=) p.(=) g.100629673del Copied from the Exome Variant Server BTK_000077 1/10205 1/6484 0/3721
?/? c.241-40A>G r.(=) p.(=) g.100626729T>C Copied from the Exome Variant Server BTK_000076 1/10563 0/6728 1/3835
?/? c.309+27C>T r.(=) p.(=) g.100626594G>A Copied from the Exome Variant Server BTK_000075 2/10563 2/6728 0/3835
?/? c.309+28G>A r.(=) p.(=) g.100626593C>T Copied from the Exome Variant Server BTK_000074 3/10563 0/6728 3/3835
?/? c.309+34C>T r.(=) p.(=) g.100626587G>A Copied from the Exome Variant Server BTK_000073 2/10563 2/6728 0/3835
?/? c.318T>C r.(=) p.(=) g.100625059A>G Copied from the Exome Variant Server BTK_000072 1/10563 0/6728 1/3835
?/? c.390C>T r.(=) p.(=) g.100624987G>A Copied from the Exome Variant Server BTK_000071 3/10563 0/6728 3/3835
?/? c.392-32A>G r.(=) p.(=) g.100617709T>C Copied from the Exome Variant Server BTK_000070 1/10563 1/6728 0/3835
?/? c.392-29T>A r.(=) p.(=) g.100617706A>T Copied from the Exome Variant Server BTK_000069 1/10563 0/6728 1/3835
?/? c.397C>T r.(?) p.(Arg133Trp) g.100617672G>A Copied from the Exome Variant Server BTK_000068 1/10563 0/6728 1/3835
?/? c.482A>C r.(?) p.(Asn161Thr) g.100617587T>G Copied from the Exome Variant Server BTK_000067 1/10563 1/6728 0/3835
?/? c.520+33C>T r.(=) p.(=) g.100617516G>A Copied from the Exome Variant Server BTK_000066 6/10563 0/6728 6/3835
?/? c.521-41T>C r.(=) p.(=) g.100617269A>G Copied from the Exome Variant Server BTK_000065 3/10563 3/6728 0/3835
?/? c.521-18T>C r.(=) p.(=) g.100617246A>G Copied from the Exome Variant Server BTK_000064 1/10563 0/6728 1/3835
?/? c.522C>T r.(=) p.(=) g.100617227G>A Copied from the Exome Variant Server BTK_000063 1/10563 0/6728 1/3835
?/? c.531T>C r.(=) p.(=) g.100617218A>G Copied from the Exome Variant Server BTK_000062 73/10563 0/6728 73/3835
?/? c.573G>A r.(=) p.(=) g.100617176C>T Copied from the Exome Variant Server BTK_000061 1/10563 1/6728 0/3835
?/? c.588+37G>A r.(=) p.(=) g.100617124C>T Copied from the Exome Variant Server BTK_000059 1/10563 1/6728 0/3835
?/? c.589-39T>C r.(=) p.(=) g.100615782A>G Copied from the Exome Variant Server BTK_000057 1/10563 1/6728 0/3835
?/? c.608C>T r.(?) p.(Pro203Leu) g.100615724G>A Copied from the Exome Variant Server BTK_000055 1/10563 1/6728 0/3835
?/? c.615G>T r.(?) p.(Glu205Asp) g.100615717C>A Copied from the Exome Variant Server BTK_000053 17/10563 15/6728 2/3835
?/? c.625G>T r.(?) p.(Ala209Ser) g.100615707C>A Copied from the Exome Variant Server BTK_000051 2/10563 0/6728 2/3835
?/? c.707G>A r.(?) p.(Arg236Gln) g.100615625C>T Copied from the Exome Variant Server BTK_000060 5/10563 0/6728 5/3835
?/? c.720A>C r.(?) p.(Glu240Asp) g.100615612T>G Copied from the Exome Variant Server BTK_000058 4/10563 2/6728 2/3835
?/? c.776+29T>C r.(=) p.(=) g.100615527A>G Copied from the Exome Variant Server BTK_000056 1/10563 0/6728 1/3835
?/? c.776+51C>T r.(=) p.(=) g.100615505G>A Copied from the Exome Variant Server BTK_000054 1/10563 1/6728 0/3835
?/? c.776+52G>A r.(=) p.(=) g.100615504C>T Copied from the Exome Variant Server BTK_000052 43/4525 18/3107 25/1418
?/? c.777-30G>C r.(=) p.(=) g.100615168C>G Copied from the Exome Variant Server BTK_000050 1/10563 0/6728 1/3835
?/? c.777-4A>G r.spl? p.? g.100615142T>C Copied from the Exome Variant Server BTK_000049 1/10563 1/6728 0/3835
?/? c.839+47_839+48insTC r.(=) p.(=) g.100615028_100615029insGA Copied from the Exome Variant Server BTK_000048 2188/10205 1003/6484 1185/3721
?/? c.839+49_839+50del r.(=) p.(=) g.100615026_100615027del Copied from the Exome Variant Server BTK_000046 2029/10201 1522/6482 507/3719
?/? c.839+49_839+50dup r.(=) p.(=) g.100615026_100615027dup Copied from the Exome Variant Server BTK_000045 2200/10201 1004/6482 1196/3719
?/? c.839+49_839+50insTC r.(=) p.(=) g.100615026_100615027insGA Copied from the Exome Variant Server BTK_000047 2192/10205 1003/6484 1189/3721
?/? c.839+51C>A r.(=) p.(=) g.100615025G>T Copied from the Exome Variant Server BTK_000044 684/10563 569/6728 115/3835
?/? c.839+49_839+52del r.(=) p.(=) g.100615024_100615027del Copied from the Exome Variant Server BTK_000043 34/10201 19/6482 15/3719
?/? c.839+51_839+52insTC r.(=) p.(=) g.100615024_100615025insGA Copied from the Exome Variant Server BTK_000042 2197/10203 1003/6482 1194/3721
?/? c.839+53A>C r.(=) p.(=) g.100615023T>G Copied from the Exome Variant Server BTK_000041 546/3600 304/2391 242/1209
?/? c.839+55A>C r.(=) p.(=) g.100615021T>G Copied from the Exome Variant Server BTK_000040 4/3600 2/2391 2/1209
?/? c.839+65_839+66del r.(=) p.(=) g.100615010_100615011del Copied from the Exome Variant Server BTK_000039 1355/8941 733/5789 622/3152
?/? c.839+65_839+66dup r.(=) p.(=) g.100615010_100615011dup Copied from the Exome Variant Server BTK_000038 860/8941 252/5789 608/3152
?/? c.839+67_839+68del r.(=) p.(=) g.100615008_100615009del Copied from the Exome Variant Server BTK_000037 568/8399 179/5485 389/2914
?/? c.840-57G>C r.(=) p.(=) g.100614392C>G Copied from the Exome Variant Server BTK_000036 10/3600 0/2391 10/1209
?/? c.840-53C>T r.(=) p.(=) g.100614388G>A Copied from the Exome Variant Server BTK_000035 1/3600 0/2391 1/1209
?/? c.894+15A>C r.(=) p.(=) g.100614266T>G Copied from the Exome Variant Server BTK_000034 1/10563 1/6728 0/3835
?/? c.895-11C>T r.(=) p.(=) g.100613695G>A Copied from the Exome Variant Server BTK_000033 1/10563 1/6728 0/3835
?/? c.895-10G>A r.(=) p.(=) g.100613694C>T Copied from the Exome Variant Server BTK_000032 3/10563 3/6728 0/3835
?/? c.954T>C r.(=) p.(=) g.100613625A>G Copied from the Exome Variant Server BTK_000030 272/10563 3/6728 269/3835
?/? c.974+52T>A r.(=) p.(=) g.100613553A>T Copied from the Exome Variant Server BTK_000031 12/8125 12/5498 0/2627
?/? c.1053T>C r.(=) p.(=) g.100613347A>G Copied from the Exome Variant Server BTK_000029 1/10563 1/6728 0/3835
?/? c.1103-25A>G r.(=) p.(=) g.100612596T>C Copied from the Exome Variant Server BTK_000028 6/10563 0/6728 6/3835
?/? c.1103-17C>G r.(=) p.(=) g.100612588G>C Copied from the Exome Variant Server BTK_000027 1/10563 0/6728 1/3835
?/? c.1177+35G>C r.(=) p.(=) g.100612462C>G Copied from the Exome Variant Server BTK_000026 1/10563 1/6728 0/3835
?/? c.1178-50G>T r.(=) p.(=) g.100611993C>A Copied from the Exome Variant Server BTK_000025 1/10563 0/6728 1/3835
?/? c.1178-35G>A r.(=) p.(=) g.100611978C>T Copied from the Exome Variant Server BTK_000024 2/10563 2/6728 0/3835
?/? c.1239T>C r.(=) p.(=) g.100611882A>G Copied from the Exome Variant Server BTK_000023 1/10563 0/6728 1/3835
?/? c.1252T>C r.(?) p.(Tyr418His) g.100611869A>G Copied from the Exome Variant Server BTK_000022 3/10563 3/6728 0/3835
?/? c.1349+20C>T r.(=) p.(=) g.100611752G>A Copied from the Exome Variant Server BTK_000021 1/10563 1/6728 0/3835
?/? c.1349+33A>G r.(=) p.(=) g.100611739T>C Copied from the Exome Variant Server BTK_000020 1/10563 1/6728 0/3835
?/? c.1350-33A>G r.(=) p.(=) g.100611289T>C Copied from the Exome Variant Server BTK_000019 1/10557 0/6722 1/3835
?/? c.1350-29A>G r.(=) p.(=) g.100611285T>C Copied from the Exome Variant Server BTK_000018 3484/10560 1079/6725 2405/3835
?/? c.1402C>T r.(?) p.(Arg468Cys) g.100611204G>A Copied from the Exome Variant Server BTK_000017 1/10563 1/6728 0/3835
?/? c.1566+18T>C r.(=) p.(=) g.100611022A>G Copied from the Exome Variant Server BTK_000016 2/10563 0/6728 2/3835
?/? c.1566+33G>C r.(=) p.(=) g.100611007C>G Copied from the Exome Variant Server BTK_000015 1/10563 0/6728 1/3835
?/? c.1566+41G>A r.(=) p.(=) g.100610999C>T Copied from the Exome Variant Server BTK_000014 2/10563 2/6728 0/3835
?/? c.1567-31G>A r.(=) p.(=) g.100609713C>T Copied from the Exome Variant Server BTK_000013 3/10563 3/6728 0/3835
?/? c.1590C>T r.(=) p.(=) g.100609659G>A Copied from the Exome Variant Server BTK_000012 1/10563 1/6728 0/3835
?/? c.1664T>C r.(?) p.(Val555Ala) g.100608944A>G Copied from the Exome Variant Server BTK_000011 1/10563 0/6728 1/3835
?/? c.1698G>A r.(=) p.(=) g.100608910C>T Copied from the Exome Variant Server BTK_000010 3/10563 0/6728 3/3835
?/? c.1701A>G r.(=) p.(=) g.100608907T>C Copied from the Exome Variant Server BTK_000009 3/10563 0/6728 3/3835
?/? c.1737C>T r.(=) p.(=) g.100608871G>A Copied from the Exome Variant Server BTK_000008 1/10563 1/6728 0/3835
?/? c.1750+10T>C r.(=) p.(=) g.100608848A>G Copied from the Exome Variant Server BTK_000007 1/10563 1/6728 0/3835
?/? c.1750+22G>C r.(=) p.(=) g.100608836C>G Copied from the Exome Variant Server BTK_000006 1/10563 1/6728 0/3835
?/? c.1750+32C>A r.(=) p.(=) g.100608826G>T Copied from the Exome Variant Server BTK_000005 2/10563 2/6728 0/3835
?/? c.1899C>T r.(=) p.(=) g.100608191G>A Copied from the Exome Variant Server BTK_000004 4124/10563 1085/6728 3039/3835
?/? c.1908+24T>C r.(=) p.(=) g.100608158A>G Copied from the Exome Variant Server BTK_000003 1/10563 0/6728 1/3835
?/? c.1908+27A>G r.(=) p.(=) g.100608155T>C Copied from the Exome Variant Server BTK_000002 1/10563 1/6728 0/3835
?/? c.*11A>G r.(=) p.(=) g.100604862T>C Copied from the Exome Variant Server BTK_000001 1/10563 1/6728 0/3835
Legend