All transcript variants in gene TIAL1

Information The variants shown are described using the NM_003252.3 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-57del r.(=) p.(=) g.121356034del Copied from the Exome Variant Server TIAL1_000062 20/5100 11/3504 9/1596
?/? c.-13C>T r.(=) p.(=) g.121355990G>A Copied from the Exome Variant Server TIAL1_000061 2/12856 1/8492 1/4364
?/? c.-12G>A r.(=) p.(=) g.121355989C>T Copied from the Exome Variant Server TIAL1_000060 1/12878 1/8510 0/4368
?/? c.27G>A r.(=) p.(=) g.121355951C>T Copied from the Exome Variant Server TIAL1_000059 7/12976 0/8572 7/4404
?/? c.32+50C>G r.(=) p.(=) g.121355896G>C Copied from the Exome Variant Server TIAL1_000058 22/12904 21/8538 1/4366
?/? c.33-47C>G r.(=) p.(=) g.121347807G>C Copied from the Exome Variant Server TIAL1_000057 8/13006 8/8600 0/4406
?/? c.33-30T>C r.(=) p.(=) g.121347790A>G Copied from the Exome Variant Server TIAL1_000056 19/13006 0/8600 19/4406
?/? c.129+20A>G r.(=) p.(=) g.121347644T>C Copied from the Exome Variant Server TIAL1_000055 1/13006 1/8600 0/4406
?/? c.130-59C>A r.(=) p.(=) g.121342128G>T Copied from the Exome Variant Server TIAL1_000054 1/13004 1/8598 0/4406
?/? c.228+16G>A r.(=) p.(=) g.121341955C>T Copied from the Exome Variant Server TIAL1_000053 4/12994 0/8596 4/4398
?/? c.228+24C>T r.(=) p.(=) g.121341947G>A Copied from the Exome Variant Server TIAL1_000052 1/12992 1/8594 0/4398
?/? c.228+43G>C r.(=) p.(=) g.121341928C>G Copied from the Exome Variant Server TIAL1_000051 1/12962 0/8586 1/4376
?/? c.371+16A>G r.(=) p.(=) g.121341418T>C Copied from the Exome Variant Server TIAL1_000050 13/13004 0/8598 13/4406
?/? c.371+41A>G r.(=) p.(=) g.121341393T>C Copied from the Exome Variant Server TIAL1_000049 1/13000 0/8594 1/4406
?/? c.372-51A>G r.(=) p.(=) g.121339573T>C Copied from the Exome Variant Server TIAL1_000048 1/13002 0/8598 1/4404
?/? c.372-18C>T r.(=) p.(=) g.121339540G>A Copied from the Exome Variant Server TIAL1_000047 2/13006 0/8600 2/4406
?/? c.447+34T>C r.(=) p.(=) g.121339413A>G Copied from the Exome Variant Server TIAL1_000046 2/12988 2/8590 0/4398
?/? c.448-45T>C r.(=) p.(=) g.121338391A>G Copied from the Exome Variant Server TIAL1_000045 1/13006 1/8600 0/4406
?/? c.448-7T>A r.(=) p.(=) g.121338353A>T Copied from the Exome Variant Server TIAL1_000044 1/13006 0/8600 1/4406
?/? c.477C>T r.(=) p.(=) g.121338317G>A Copied from the Exome Variant Server TIAL1_000043 1/13006 1/8600 0/4406
?/? c.556+45A>T r.(=) p.(=) g.121338193T>A Copied from the Exome Variant Server TIAL1_000042 1/13006 1/8600 0/4406
?/? c.557-39A>G r.(=) p.(=) g.121337287T>C Copied from the Exome Variant Server TIAL1_000041 11/13004 11/8598 0/4406
?/? c.557-10C>G r.(=) p.(=) g.121337258G>C Copied from the Exome Variant Server TIAL1_000040 1/13004 0/8600 1/4404
?/? c.557-4A>G r.spl? p.? g.121337252T>C Copied from the Exome Variant Server TIAL1_000039 1/13004 1/8600 0/4404
?/? c.563C>T r.(?) p.(Thr188Ile) g.121337242G>A Copied from the Exome Variant Server TIAL1_000038 1/13004 0/8600 1/4404
?/? c.618T>C r.(=) p.(=) g.121337187A>G Copied from the Exome Variant Server TIAL1_000037 11/13006 10/8600 1/4406
?/? c.639G>A r.(=) p.(=) g.121337166C>T Copied from the Exome Variant Server TIAL1_000036 2/13006 1/8600 1/4406
?/? c.652+42C>T r.(=) p.(=) g.121337111G>A Copied from the Exome Variant Server TIAL1_000035 2/13006 0/8600 2/4406
?/? c.653-39C>T r.(=) p.(=) g.121337086G>A Copied from the Exome Variant Server TIAL1_000034 65/13004 1/8600 64/4404
?/? c.653-38A>T r.(=) p.(=) g.121337085T>A Copied from the Exome Variant Server TIAL1_000033 1/13004 0/8600 1/4404
?/? c.653-19T>A r.(=) p.(=) g.121337066A>T Copied from the Exome Variant Server TIAL1_000032 1/13004 1/8600 0/4404
?/? c.723C>T r.(=) p.(=) g.121336977G>A Copied from the Exome Variant Server TIAL1_000031 1/13002 0/8600 1/4402
?/? c.737+9C>G r.(=) p.(=) g.121336954G>C Copied from the Exome Variant Server TIAL1_000030 1/13004 0/8600 1/4404
?/? c.737+17A>G r.(=) p.(=) g.121336946T>C Copied from the Exome Variant Server TIAL1_000029 4/12998 0/8594 4/4404
?/? c.737+30C>T r.(=) p.(=) g.121336933G>A Copied from the Exome Variant Server TIAL1_000028 5/12994 5/8590 0/4404
?/? c.738-35A>G r.(=) p.(=) g.121336750T>C Copied from the Exome Variant Server TIAL1_000027 116/13006 1/8600 115/4406
?/? c.791C>T r.(?) p.(Thr264Met) g.121336662G>A Copied from the Exome Variant Server TIAL1_000026 3/13006 1/8600 2/4406
?/? c.813A>G r.(=) p.(=) g.121336640T>C Copied from the Exome Variant Server TIAL1_000025 1/13006 0/8600 1/4406
?/? c.861+3A>G r.spl? p.? g.121336589T>C Copied from the Exome Variant Server TIAL1_000024 2/13006 2/8600 0/4406
?/? c.861+25T>A r.(=) p.(=) g.121336567A>T Copied from the Exome Variant Server TIAL1_000023 1/13006 1/8600 0/4406
?/? c.862-46G>A r.(=) p.(=) g.121336308C>T Copied from the Exome Variant Server TIAL1_000022 1/13006 1/8600 0/4406
?/? c.862-27C>T r.(=) p.(=) g.121336289G>A Copied from the Exome Variant Server TIAL1_000021 3/13006 3/8600 0/4406
?/? c.876A>G r.(=) p.(=) g.121336248T>C Copied from the Exome Variant Server TIAL1_000020 710/13006 472/8600 238/4406
?/? c.885A>G r.(=) p.(=) g.121336239T>C Copied from the Exome Variant Server TIAL1_000019 212/13006 4/8600 208/4406
?/? c.897G>A r.(=) p.(=) g.121336227C>T Copied from the Exome Variant Server TIAL1_000018 1/13006 1/8600 0/4406
?/? c.906C>T r.(=) p.(=) g.121336218G>A Copied from the Exome Variant Server TIAL1_000017 1/13006 1/8600 0/4406
?/? c.1001+8G>T r.(=) p.(=) g.121336115C>A Copied from the Exome Variant Server TIAL1_000016 2/13006 2/8600 0/4406
?/? c.1001+25A>G r.(=) p.(=) g.121336098T>C Copied from the Exome Variant Server TIAL1_000015 1/13006 1/8600 0/4406
?/? c.1001+30A>T r.(=) p.(=) g.121336093T>A Copied from the Exome Variant Server TIAL1_000014 1/13006 0/8600 1/4406
?/? c.1001+33G>A r.(=) p.(=) g.121336090C>T Copied from the Exome Variant Server TIAL1_000013 1/13006 1/8600 0/4406
?/? c.1002-38del r.(=) p.(=) g.121335341del Copied from the Exome Variant Server TIAL1_000012 225/12516 128/8252 97/4264
?/? c.1002-38dup r.(=) p.(=) g.121335341dup Copied from the Exome Variant Server TIAL1_000011 253/12516 158/8252 95/4264
?/? c.1002-15_1002-14insT r.(=) p.(=) g.121335317_121335318insA Copied from the Exome Variant Server TIAL1_000010 1/12518 1/8254 0/4264
?/? c.1005A>G r.(=) p.(=) g.121335300T>C Copied from the Exome Variant Server TIAL1_000009 1/13006 1/8600 0/4406
?/? c.1028G>C r.(?) p.(Gly343Ala) g.121335277C>G Copied from the Exome Variant Server TIAL1_000008 1/13006 1/8600 0/4406
?/? c.1095C>T r.(=) p.(=) g.121335210G>A Copied from the Exome Variant Server TIAL1_000007 2/13006 2/8600 0/4406
?/? c.*2C>T r.(=) p.(=) g.121335175G>A Copied from the Exome Variant Server TIAL1_000006 1/13006 1/8600 0/4406
?/? c.*11_*12del r.(=) p.(=) g.121335165_121335166del Copied from the Exome Variant Server TIAL1_000004 25/12518 9/8254 16/4264
?/? c.*11_*12insT r.(=) p.(=) g.121335165_121335166insA Copied from the Exome Variant Server TIAL1_000005 1/12518 1/8254 0/4264
?/? c.*20A>G r.(=) p.(=) g.121335157T>C Copied from the Exome Variant Server TIAL1_000003 63/13006 0/8600 63/4406
?/? c.*20_*21insA r.(=) p.(=) g.121335156_121335157insT Copied from the Exome Variant Server TIAL1_000002 16/12518 12/8254 4/4264
?/? c.*23G>T r.(=) p.(=) g.121335154C>A Copied from the Exome Variant Server TIAL1_000001 1/13006 1/8600 0/4406
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