Unique variants in gene KITLG

Information The variants shown are described using the NM_003994.5 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-88C>T r.(=) p.(=) g.88974143G>A Copied from the Exome Variant Server KITLG_000077 1/4566 1/3182 0/1384
1 c.-62A>T r.(=) p.(=) g.88974117T>A Copied from the Exome Variant Server KITLG_000075 1/4566 0/3182 1/1384
1 c.15+26C>T r.(=) p.(=) g.88974015G>A Copied from the Exome Variant Server KITLG_000076 1/12994 0/8594 1/4400
1 c.16-138C>A r.(=) p.(=) g.88939780G>T Copied from the Exome Variant Server KITLG_000074 5/5710 0/3968 5/1742
1 c.16-137G>A r.(=) p.(=) g.88939779C>T Copied from the Exome Variant Server KITLG_000073 20/5712 9/3968 11/1744
1 c.16-119T>A r.(=) p.(=) g.88939761A>T Copied from the Exome Variant Server KITLG_000072 57/5718 49/3972 8/1746
1 c.16-48A>G r.(=) p.(=) g.88939690T>C Copied from the Exome Variant Server KITLG_000071 1/13000 0/8598 1/4402
1 c.16-35G>A r.(=) p.(=) g.88939677C>T Copied from the Exome Variant Server KITLG_000070 1/13004 1/8600 0/4404
1 c.66C>T r.(=) p.(=) g.88939592G>A Copied from the Exome Variant Server KITLG_000069 3/13006 3/8600 0/4406
1 c.67G>A r.(?) p.(Val23Ile) g.88939591C>T Copied from the Exome Variant Server KITLG_000068 2/13006 2/8600 0/4406
1 c.129+21C>T r.(=) p.(=) g.88939508G>A Copied from the Exome Variant Server KITLG_000067 16/13006 8/8600 8/4406
1 c.129+22G>A r.(=) p.(=) g.88939507C>T Copied from the Exome Variant Server KITLG_000066 2/13006 2/8600 0/4406
1 c.129+38A>G r.(=) p.(=) g.88939491T>C Copied from the Exome Variant Server KITLG_000065 72/13006 0/8600 72/4406
1 c.129+42G>A r.(=) p.(=) g.88939487C>T Copied from the Exome Variant Server KITLG_000064 4/13006 0/8600 4/4406
1 c.130-2233C>T r.(=) p.(=) g.88928513G>A Copied from the Exome Variant Server KITLG_000063 1/5734 0/3982 1/1752
1 c.130-2154C>T r.(=) p.(=) g.88928434G>A Copied from the Exome Variant Server KITLG_000062 16/5734 14/3982 2/1752
1 c.130-22A>T r.(=) p.(=) g.88926302T>A Copied from the Exome Variant Server KITLG_000061 14/13004 0/8598 14/4406
1 c.130-11del r.(=) p.(=) g.88926291del Copied from the Exome Variant Server KITLG_000060 631/12514 441/8250 190/4264
1 c.130-11dup r.(=) p.(=) g.88926291dup Copied from the Exome Variant Server KITLG_000059 1333/12514 919/8250 414/4264
1 c.177C>T r.(=) p.(=) g.88926233G>A Copied from the Exome Variant Server KITLG_000058 37/13006 33/8600 4/4406
1 c.192+18C>T r.(=) p.(=) g.88926200G>A Copied from the Exome Variant Server KITLG_000057 1/13002 1/8596 0/4406
1 c.192+32A>T r.(=) p.(=) g.88926186T>A Copied from the Exome Variant Server KITLG_000056 1/13006 1/8600 0/4406
1 c.192+40A>G r.(=) p.(=) g.88926178T>C Copied from the Exome Variant Server KITLG_000055 1/13004 0/8598 1/4406
1 c.192+54A>G r.(=) p.(=) g.88926164T>C Copied from the Exome Variant Server KITLG_000054 1/4566 0/3182 1/1384
1 c.193-44A>G r.(=) p.(=) g.88912688T>C Copied from the Exome Variant Server KITLG_000053 14/13004 0/8598 14/4406
1 c.193-39T>C r.(=) p.(=) g.88912683A>G Copied from the Exome Variant Server KITLG_000052 1/13006 0/8600 1/4406
1 c.193-8T>C r.(=) p.(=) g.88912652A>G Copied from the Exome Variant Server KITLG_000051 1/13006 1/8600 0/4406
1 c.213C>T r.(=) p.(=) g.88912624G>A Copied from the Exome Variant Server KITLG_000050 154/13006 0/8600 154/4406
1 c.246T>C r.(=) p.(=) g.88912591A>G Copied from the Exome Variant Server KITLG_000049 1/13006 0/8600 1/4406
1 c.319A>G r.(?) p.(Ile107Val) g.88912518T>C Copied from the Exome Variant Server KITLG_000048 1/13006 0/8600 1/4406
1 c.343G>A r.(?) p.(Val115Met) g.88912494C>T Copied from the Exome Variant Server KITLG_000047 1/13006 1/8600 0/4406
1 c.363+16T>A r.(=) p.(=) g.88912458A>T Copied from the Exome Variant Server KITLG_000046 422/13006 3/8600 419/4406
1 c.363+22T>A r.(=) p.(=) g.88912452A>T Copied from the Exome Variant Server KITLG_000045 1/13006 0/8600 1/4406
1 c.363+35C>T r.(=) p.(=) g.88912439G>A Copied from the Exome Variant Server KITLG_000044 1/13006 0/8600 1/4406
1 c.363+36G>A r.(=) p.(=) g.88912438C>T Copied from the Exome Variant Server KITLG_000043 2/13006 0/8600 2/4406
1 c.364-40G>A r.(=) p.(=) g.88910307C>T Copied from the Exome Variant Server KITLG_000042 1086/12814 815/8522 271/4292
1 c.364-17C>T r.(=) p.(=) g.88910284G>A Copied from the Exome Variant Server KITLG_000041 1/12888 1/8544 0/4344
1 c.364-12T>G r.(=) p.(=) g.88910279A>C Copied from the Exome Variant Server KITLG_000040 1/12906 1/8550 0/4356
1 c.399G>A r.(=) p.(=) g.88910232C>T Copied from the Exome Variant Server KITLG_000039 1/12980 0/8584 1/4396
1 c.401T>A r.(?) p.(Leu134His) g.88910230A>T Copied from the Exome Variant Server KITLG_000038 1/12980 1/8584 0/4396
1 c.406A>G r.(?) p.(Thr136Ala) g.88910225T>C Copied from the Exome Variant Server KITLG_000037 1/12982 1/8584 0/4398
1 c.451T>C r.(?) p.(Phe151Leu) g.88910180A>G Copied from the Exome Variant Server KITLG_000036 1/13000 1/8594 0/4406
1 c.511C>T r.(?) p.(Pro171Ser) g.88910120G>A Copied from the Exome Variant Server KITLG_000035 1/13004 0/8598 1/4406
1 c.515A>G r.(?) p.(Glu172Gly) g.88910116T>C Copied from the Exome Variant Server KITLG_000034 2/13002 0/8596 2/4406
1 c.520+683A>G r.(=) p.(=) g.88909428T>C Copied from the Exome Variant Server KITLG_000033 1/13004 1/8598 0/4406
1 c.520+711A>G r.(=) p.(=) g.88909400T>C Copied from the Exome Variant Server KITLG_000032 24/13004 0/8598 24/4406
1 c.520+735C>G r.(=) p.(=) g.88909376G>C Copied from the Exome Variant Server KITLG_000031 1/13004 0/8598 1/4406
1 c.520+746A>G r.(=) p.(=) g.88909365T>C Copied from the Exome Variant Server KITLG_000030 1/13004 0/8598 1/4406
1 c.520+773C>T r.(=) p.(=) g.88909338G>A Copied from the Exome Variant Server KITLG_000029 1/13004 1/8598 0/4406
1 c.520+825G>T r.(=) p.(=) g.88909286C>A Copied from the Exome Variant Server KITLG_000028 1/13002 0/8596 1/4406
1 c.520+834G>A r.(=) p.(=) g.88909277C>T Copied from the Exome Variant Server KITLG_000027 1/13002 1/8596 0/4406
1 c.520+840A>G r.(=) p.(=) g.88909271T>C Copied from the Exome Variant Server KITLG_000026 2/13002 2/8596 0/4406
1 c.521-45T>G r.(=) p.(=) g.88900959A>C Copied from the Exome Variant Server KITLG_000025 1/13006 1/8600 0/4406
1 c.544G>T r.(?) p.(Asp182Tyr) g.88900891C>A Copied from the Exome Variant Server KITLG_000024 153/13006 138/8600 15/4406
1 c.545A>G r.(?) p.(Asp182Gly) g.88900890T>C Copied from the Exome Variant Server KITLG_000023 1/13006 1/8600 0/4406
1 c.548C>T r.(?) p.(Ser183Phe) g.88900887G>A Copied from the Exome Variant Server KITLG_000022 1/13006 1/8600 0/4406
1 c.557A>G r.(?) p.(His186Arg) g.88900878T>C Copied from the Exome Variant Server KITLG_000021 1/13006 0/8600 1/4406
1 c.570G>A r.(?) p.(Met190Ile) g.88900865C>T Copied from the Exome Variant Server KITLG_000020 1/13006 1/8600 0/4406
1 c.575T>C r.(?) p.(Leu192Ser) g.88900860A>G Copied from the Exome Variant Server KITLG_000019 1/13006 1/8600 0/4406
1 c.580G>T r.(?) p.(Ala194Ser) g.88900855C>A Copied from the Exome Variant Server KITLG_000018 1/13006 0/8600 1/4406
1 c.608C>T r.(?) p.(Ala203Val) g.88900827G>A Copied from the Exome Variant Server KITLG_000017 1/13006 1/8600 0/4406
1 c.618C>A r.(=) p.(=) g.88900817G>T Copied from the Exome Variant Server KITLG_000016 1/13006 1/8600 0/4406
1 c.630+24T>A r.(=) p.(=) g.88900781A>T Copied from the Exome Variant Server KITLG_000015 4/13006 2/8600 2/4406
1 c.630+29_630+30insA r.(=) p.(=) g.88900775_88900776insT Copied from the Exome Variant Server KITLG_000014 7/12518 4/8254 3/4264
1 c.644G>C r.(?) p.(Ser215Thr) g.88900142C>G Copied from the Exome Variant Server KITLG_000013 1/13006 1/8600 0/4406
1 c.649A>C r.(?) p.(Thr217Pro) g.88900137T>G Copied from the Exome Variant Server KITLG_000012 1/13006 1/8600 0/4406
1 c.657A>T r.(=) p.(=) g.88900129T>A Copied from the Exome Variant Server KITLG_000011 1/13006 1/8600 0/4406
1 c.698+22G>A r.(=) p.(=) g.88900066C>T Copied from the Exome Variant Server KITLG_000010 1/13006 0/8600 1/4406
1 c.698+55C>T r.(=) p.(=) g.88900033G>A Copied from the Exome Variant Server KITLG_000009 3/4566 3/3182 0/1384
1 c.699-41T>A r.(=) p.(=) g.88899053A>T Copied from the Exome Variant Server KITLG_000008 11/13000 11/8598 0/4402
1 c.699-15C>A r.(=) p.(=) g.88899027G>T Copied from the Exome Variant Server KITLG_000007 1/13000 0/8598 1/4402
1 c.699-13T>C r.(=) p.(=) g.88899025A>G Copied from the Exome Variant Server KITLG_000006 1/13000 0/8598 1/4402
1 c.699-11T>C r.(=) p.(=) g.88899023A>G Copied from the Exome Variant Server KITLG_000005 1/13002 1/8598 0/4404
1 c.720_723del r.(?) p.(Arg240Serfs*29) g.88898988_88898991del Copied from the Exome Variant Server KITLG_000004 1/12516 1/8254 0/4262
1 c.*37+30del r.(=) p.(=) g.88898906del Copied from the Exome Variant Server KITLG_000003 128/12504 73/8242 55/4262
1 c.*37+39_*37+40insT r.(=) p.(=) g.88898896_88898897insA Copied from the Exome Variant Server KITLG_000002 33/12480 26/8228 7/4252
1 c.*37+40_*37+41insA r.(=) p.(=) g.88898895_88898896insT Copied from the Exome Variant Server KITLG_000001 4/12478 3/8230 1/4248
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