Unique variants in gene HIC2

Information The variants shown are described using the NM_015094.2 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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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.-20_-19del r.(=) p.(=) g.21797101_21797102del Copied from the Exome Variant Server HIC2_000001 11085/11270 7395/7524 3690/3746
1 c.-19G>C r.(=) p.(=) g.21797102G>C Copied from the Exome Variant Server HIC2_000002 10947/11016 7374/7426 3573/3590
1 c.27-21C>T r.(=) p.(=) g.21799190C>T Copied from the Exome Variant Server HIC2_000003 1/13002 1/8596 0/4406
1 c.27-5C>T r.spl? p.? g.21799206C>T Copied from the Exome Variant Server HIC2_000004 6/13000 0/8596 6/4404
1 c.33C>T r.(=) p.(=) g.21799217C>T Copied from the Exome Variant Server HIC2_000005 4/13000 0/8596 4/4404
1 c.48C>T r.(=) p.(=) g.21799232C>T Copied from the Exome Variant Server HIC2_000006 4/13006 0/8600 4/4406
1 c.63C>T r.(=) p.(=) g.21799247C>T Copied from the Exome Variant Server HIC2_000007 8/13006 8/8600 0/4406
1 c.120G>A r.(=) p.(=) g.21799304G>A Copied from the Exome Variant Server HIC2_000008 1/13006 1/8600 0/4406
1 c.141C>T r.(=) p.(=) g.21799325C>T Copied from the Exome Variant Server HIC2_000009 1/13006 0/8600 1/4406
1 c.186C>T r.(=) p.(=) g.21799370C>T Copied from the Exome Variant Server HIC2_000010 1/13006 1/8600 0/4406
1 c.187G>A r.(?) p.(Val63Ile) g.21799371G>A Copied from the Exome Variant Server HIC2_000011 1/13006 1/8600 0/4406
1 c.397G>T r.(?) p.(Ala133Ser) g.21799581G>T Copied from the Exome Variant Server HIC2_000012 1/13000 1/8596 0/4404
1 c.406C>T r.(?) p.(Arg136Cys) g.21799590C>T Copied from the Exome Variant Server HIC2_000013 1/12950 0/8568 1/4382
1 c.407G>A r.(?) p.(Arg136His) g.21799591G>A Copied from the Exome Variant Server HIC2_000014 1/12822 1/8474 0/4348
1 c.414A>G r.(=) p.(=) g.21799598A>G Copied from the Exome Variant Server HIC2_000015 2/12542 0/8290 2/4252
1 c.475del r.(?) p.(Arg161Alafs*113) g.21799659del Copied from the Exome Variant Server HIC2_000016 84/11726 58/7848 26/3878
1 c.500C>T r.(?) p.(Thr167Met) g.21799684C>T Copied from the Exome Variant Server HIC2_000017 1/12320 0/8256 1/4064
1 c.508G>A r.(?) p.(Val170Ile) g.21799692G>A Copied from the Exome Variant Server HIC2_000018 2/12364 2/8310 0/4054
1 c.535G>A r.(?) p.(Val179Met) g.21799719G>A Copied from the Exome Variant Server HIC2_000019 4/12564 4/8396 0/4168
1 c.545G>T r.(?) p.(Arg182Leu) g.21799729G>T Copied from the Exome Variant Server HIC2_000020 1/12630 1/8428 0/4202
1 c.574C>T r.(?) p.(Pro192Ser) g.21799758C>T Copied from the Exome Variant Server HIC2_000021 43/12788 0/8508 43/4280
1 c.594C>T r.(=) p.(=) g.21799778C>T Copied from the Exome Variant Server HIC2_000022 1/12896 1/8550 0/4346
1 c.597T>C r.(=) p.(=) g.21799781T>C Copied from the Exome Variant Server HIC2_000023 1/12914 1/8554 0/4360
1 c.614G>T r.(?) p.(Gly205Val) g.21799798G>T Copied from the Exome Variant Server HIC2_000024 2/12940 0/8566 2/4374
1 c.627T>C r.(=) p.(=) g.21799811T>C Copied from the Exome Variant Server HIC2_000025 1/12938 1/8562 0/4376
1 c.645C>A r.(=) p.(=) g.21799829C>A Copied from the Exome Variant Server HIC2_000026 2/12946 2/8566 0/4380
1 c.647G>A r.(?) p.(Arg216Gln) g.21799831G>A Copied from the Exome Variant Server HIC2_000027 2/12946 2/8572 0/4374
1 c.689_691del r.(?) p.(Ser233del) g.21799873_21799875del Copied from the Exome Variant Server HIC2_000028 23/12146 18/8042 5/4104
1 c.705C>T r.(=) p.(=) g.21799889C>T Copied from the Exome Variant Server HIC2_000029 14/12882 0/8532 14/4350
1 c.706G>A r.(?) p.(Gly236Arg) g.21799890G>A Copied from the Exome Variant Server HIC2_000030 2/12876 0/8528 2/4348
1 c.723C>T r.(=) p.(=) g.21799907C>T Copied from the Exome Variant Server HIC2_000031 2/12940 2/8562 0/4378
1 c.748T>A r.(?) p.(Ser250Thr) g.21799932T>A Copied from the Exome Variant Server HIC2_000032 14/12958 0/8568 14/4390
1 c.750C>T r.(=) p.(=) g.21799934C>T Copied from the Exome Variant Server HIC2_000033 1/12958 1/8568 0/4390
1 c.753G>T r.(?) p.(Lys251Asn) g.21799937G>T Copied from the Exome Variant Server HIC2_000034 2/12960 2/8570 0/4390
1 c.773C>T r.(?) p.(Pro258Leu) g.21799957C>T Copied from the Exome Variant Server HIC2_000035 1/12962 0/8574 1/4388
1 c.848C>T r.(?) p.(Ala283Val) g.21800032C>T Copied from the Exome Variant Server HIC2_000036 1/12894 0/8538 1/4356
1 c.849G>A r.(=) p.(=) g.21800033G>A Copied from the Exome Variant Server HIC2_000037 6/12894 0/8542 6/4352
1 c.858T>C r.(=) p.(=) g.21800042T>C Copied from the Exome Variant Server HIC2_000038 12903/12954 8528/8574 4375/4380
1 c.864C>T r.(=) p.(=) g.21800048C>T Copied from the Exome Variant Server HIC2_000039 3/12952 0/8572 3/4380
1 c.865G>A r.(?) p.(Val289Ile) g.21800049G>A Copied from the Exome Variant Server HIC2_000040 58/12952 56/8574 2/4378
1 c.901A>G r.(?) p.(Thr301Ala) g.21800085A>G Copied from the Exome Variant Server HIC2_000041 1/12944 0/8572 1/4372
1 c.945C>T r.(=) p.(=) g.21800129C>T Copied from the Exome Variant Server HIC2_000042 9/12504 3/8298 6/4206
1 c.950G>A r.(?) p.(Ser317Asn) g.21800134G>A Copied from the Exome Variant Server HIC2_000043 1/12326 0/8210 1/4116
1 c.951C>T r.(=) p.(=) g.21800135C>T Copied from the Exome Variant Server HIC2_000044 2/12300 1/8200 1/4100
1 c.963G>A r.(=) p.(=) g.21800147G>A Copied from the Exome Variant Server HIC2_000045 5/12034 1/8024 4/4010
1 c.979C>T r.(?) p.(Arg327Trp) g.21800163C>T Copied from the Exome Variant Server HIC2_000046 1/11742 1/7846 0/3896
1 c.984G>A r.(=) p.(=) g.21800168G>A Copied from the Exome Variant Server HIC2_000047 1/11884 1/7940 0/3944
1 c.1038_1039insGG r.(?) p.(Ser348Alafs*183) g.21800222_21800223insGG Copied from the Exome Variant Server HIC2_000048 294/10898 179/7316 115/3582
1 c.1043C>G r.(?) p.(Ser348Cys) g.21800227C>G Copied from the Exome Variant Server HIC2_000049 9/11710 0/7816 9/3894
1 c.1055G>T r.(?) p.(Arg352Leu) g.21800239G>T Copied from the Exome Variant Server HIC2_000050 2/11622 0/7756 2/3866
1 c.1085C>T r.(?) p.(Pro362Leu) g.21800269C>T Copied from the Exome Variant Server HIC2_000051 320/11762 200/7888 120/3874
1 c.1236C>T r.(=) p.(=) g.21800420C>T Copied from the Exome Variant Server HIC2_000052 69/12990 0/8588 69/4402
1 c.1260T>C r.(=) p.(=) g.21800444T>C Copied from the Exome Variant Server HIC2_000053 12907/12964 8529/8578 4378/4386
1 c.1266C>T r.(=) p.(=) g.21800450C>T Copied from the Exome Variant Server HIC2_000054 1/12944 1/8562 0/4382
1 c.1267G>A r.(?) p.(Ala423Thr) g.21800451G>A Copied from the Exome Variant Server HIC2_000055 1/12944 1/8568 0/4376
1 c.1272C>T r.(=) p.(=) g.21800456C>T Copied from the Exome Variant Server HIC2_000056 13/12942 0/8562 13/4380
1 c.1283G>A r.(?) p.(Arg428Gln) g.21800467G>A Copied from the Exome Variant Server HIC2_000057 2/12956 0/8572 2/4384
1 c.1301C>T r.(?) p.(Thr434Met) g.21800485C>T Copied from the Exome Variant Server HIC2_000058 1/12998 0/8600 1/4398
1 c.1311C>T r.(=) p.(=) g.21800495C>T Copied from the Exome Variant Server HIC2_000059 1/13004 0/8600 1/4404
1 c.1419A>G r.(=) p.(=) g.21800603A>G Copied from the Exome Variant Server HIC2_000060 1/13006 0/8600 1/4406
1 c.1453_1455del r.(?) p.(Glu487del) g.21800637_21800639del Copied from the Exome Variant Server HIC2_000061 2/12518 1/8254 1/4264
1 c.1488G>A r.(=) p.(=) g.21800672G>A Copied from the Exome Variant Server HIC2_000062 1/13006 0/8600 1/4406
1 c.1496C>T r.(?) p.(Thr499Met) g.21800680C>T Copied from the Exome Variant Server HIC2_000063 1/13006 1/8600 0/4406
1 c.1503G>A r.(=) p.(=) g.21800687G>A Copied from the Exome Variant Server HIC2_000064 1/13006 0/8600 1/4406
1 c.1509G>A r.(=) p.(=) g.21800693G>A Copied from the Exome Variant Server HIC2_000065 1/13006 1/8600 0/4406
1 c.1552G>A r.(?) p.(Ala518Thr) g.21800736G>A Copied from the Exome Variant Server HIC2_000066 1/13006 0/8600 1/4406
1 c.1562G>A r.(?) p.(Arg521Gln) g.21800746G>A Copied from the Exome Variant Server HIC2_000067 1/13006 1/8600 0/4406
1 c.1578G>A r.(=) p.(=) g.21800762G>A Copied from the Exome Variant Server HIC2_000068 1/13006 0/8600 1/4406
1 c.1629G>A r.(=) p.(=) g.21800813G>A Copied from the Exome Variant Server HIC2_000069 6/13006 1/8600 5/4406
1 c.1635C>T r.(=) p.(=) g.21800819C>T Copied from the Exome Variant Server HIC2_000070 1/13006 0/8600 1/4406
1 c.1641C>T r.(=) p.(=) g.21800825C>T Copied from the Exome Variant Server HIC2_000071 1/13006 1/8600 0/4406
1 c.1755C>T r.(=) p.(=) g.21800939C>T Copied from the Exome Variant Server HIC2_000072 1/13006 1/8600 0/4406
1 c.1767C>T r.(=) p.(=) g.21800951C>T Copied from the Exome Variant Server HIC2_000073 1/13006 0/8600 1/4406
1 c.1778T>C r.(?) p.(Leu593Pro) g.21800962T>C Copied from the Exome Variant Server HIC2_000074 1/13006 1/8600 0/4406
1 c.1812C>T r.(=) p.(=) g.21800996C>T Copied from the Exome Variant Server HIC2_000075 1/13006 1/8600 0/4406
1 c.*13C>T r.(=) p.(=) g.21801045C>T Copied from the Exome Variant Server HIC2_000076 4/13006 1/8600 3/4406
1 c.*15C>T r.(=) p.(=) g.21801047C>T Copied from the Exome Variant Server HIC2_000077 144/13006 133/8600 11/4406
1 c.*41C>T r.(=) p.(=) g.21801073C>T Copied from the Exome Variant Server HIC2_000078 2/13006 2/8600 0/4406
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