All transcript variants in gene HEATR3

Information The variants shown are described using the NM_182922.2 transcript reference sequence.

106 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-3A>G r.(=) p.(=) g.50100040A>G Copied from the Exome Variant Server HEATR3_000001 1/12972 1/8586 0/4386
?/? c.11G>A r.(?) p.(Ser4Asn) g.50100053G>A Copied from the Exome Variant Server HEATR3_000002 2/12974 0/8584 2/4390
?/? c.14G>A r.(?) p.(Arg5Gln) g.50100056G>A Copied from the Exome Variant Server HEATR3_000003 1/12982 1/8590 0/4392
?/? c.119C>G r.(?) p.(Ala40Gly) g.50100161C>G Copied from the Exome Variant Server HEATR3_000004 1/12668 1/8384 0/4284
?/? c.125A>C r.(?) p.(Glu42Ala) g.50100167A>C Copied from the Exome Variant Server HEATR3_000005 1/12660 0/8356 1/4304
?/? c.138+13C>T r.(=) p.(=) g.50100193C>T Copied from the Exome Variant Server HEATR3_000006 1/12708 1/8412 0/4296
?/? c.138+34G>C r.(=) p.(=) g.50100214G>C Copied from the Exome Variant Server HEATR3_000007 962/12766 625/8452 337/4314
?/? c.139-37_139-33del r.(=) p.(=) g.50100241_50100245del Copied from the Exome Variant Server HEATR3_000008 1/12134 1/8022 0/4112
?/? c.139-34C>T r.(=) p.(=) g.50100244C>T Copied from the Exome Variant Server HEATR3_000009 33/12626 0/8372 33/4254
?/? c.139-25T>A r.(=) p.(=) g.50100253T>A Copied from the Exome Variant Server HEATR3_000010 7610/12516 5903/8292 1707/4224
?/? c.139-4G>C r.spl? p.? g.50100274G>C Copied from the Exome Variant Server HEATR3_000011 2962/12100 1360/8038 1602/4062
?/? c.190C>G r.(?) p.(Arg64Gly) g.50100329C>G Copied from the Exome Variant Server HEATR3_000012 1/9834 1/6744 0/3090
?/? c.399+7A>T r.(=) p.(=) g.50102785A>T Copied from the Exome Variant Server HEATR3_000013 2/12996 2/8600 0/4396
?/? c.400-18C>G r.(=) p.(=) g.50104071C>G Copied from the Exome Variant Server HEATR3_000014 2/12996 2/8600 0/4396
?/? c.466A>G r.(?) p.(Ile156Val) g.50104155A>G Copied from the Exome Variant Server HEATR3_000015 1/12996 1/8600 0/4396
?/? c.477A>G r.(?) p.(Ile159Met) g.50104166A>G Copied from the Exome Variant Server HEATR3_000016 2/12996 2/8600 0/4396
?/? c.512+15A>G r.(=) p.(=) g.50104216A>G Copied from the Exome Variant Server HEATR3_000017 2/12996 2/8600 0/4396
?/? c.512+33T>C r.(=) p.(=) g.50104234T>C Copied from the Exome Variant Server HEATR3_000018 1065/12996 664/8600 401/4396
?/? c.512+45G>A r.(=) p.(=) g.50104246G>A Copied from the Exome Variant Server HEATR3_000019 1/12994 1/8600 0/4394
?/? c.591T>C r.(=) p.(=) g.50106594T>C Copied from the Exome Variant Server HEATR3_000020 7819/12996 6124/8600 1695/4396
?/? c.599A>G r.(?) p.(Asn200Ser) g.50106602A>G Copied from the Exome Variant Server HEATR3_000021 3/12996 3/8600 0/4396
?/? c.613A>G r.(?) p.(Ile205Val) g.50106616A>G Copied from the Exome Variant Server HEATR3_000022 39/12996 2/8600 37/4396
?/? c.622+19A>G r.(=) p.(=) g.50106644A>G Copied from the Exome Variant Server HEATR3_000023 1/12996 1/8600 0/4396
?/? c.622+39A>G r.(=) p.(=) g.50106664A>G Copied from the Exome Variant Server HEATR3_000024 4/12996 0/8600 4/4396
?/? c.623-4G>A r.spl? p.? g.50109478G>A Copied from the Exome Variant Server HEATR3_000025 8744/12996 6131/8600 2613/4396
?/? c.639A>G r.(=) p.(=) g.50109498A>G Copied from the Exome Variant Server HEATR3_000026 1/12996 1/8600 0/4396
?/? c.648G>A r.(=) p.(=) g.50109507G>A Copied from the Exome Variant Server HEATR3_000027 11/12996 0/8600 11/4396
?/? c.655C>A r.(?) p.(Pro219Thr) g.50109514C>A Copied from the Exome Variant Server HEATR3_000028 1/12996 1/8600 0/4396
?/? c.656C>T r.(?) p.(Pro219Leu) g.50109515C>T Copied from the Exome Variant Server HEATR3_000029 1/12996 0/8600 1/4396
?/? c.739C>T r.(?) p.(Leu247Phe) g.50109598C>T Copied from the Exome Variant Server HEATR3_000030 1/12996 0/8600 1/4396
?/? c.750G>A r.(=) p.(=) g.50109609G>A Copied from the Exome Variant Server HEATR3_000031 1/12996 1/8600 0/4396
?/? c.752C>T r.(?) p.(Thr251Ile) g.50109611C>T Copied from the Exome Variant Server HEATR3_000032 1/12996 1/8600 0/4396
?/? c.763+11G>C r.(=) p.(=) g.50109633G>C Copied from the Exome Variant Server HEATR3_000033 28/12996 0/8600 28/4396
?/? c.763+18G>A r.(=) p.(=) g.50109640G>A Copied from the Exome Variant Server HEATR3_000034 3/12996 3/8600 0/4396
?/? c.857T>C r.(?) p.(Met286Thr) g.50112745T>C Copied from the Exome Variant Server HEATR3_000035 11/12996 0/8600 11/4396
?/? c.873G>C r.(?) p.(Met291Ile) g.50112761G>C Copied from the Exome Variant Server HEATR3_000036 6/12996 1/8600 5/4396
?/? c.906G>T r.(?) p.(Arg302Ser) g.50112794G>T Copied from the Exome Variant Server HEATR3_000037 482/12996 3/8600 479/4396
?/? c.914C>T r.(?) p.(Thr305Ile) g.50112802C>T Copied from the Exome Variant Server HEATR3_000038 1/12996 1/8600 0/4396
?/? c.958G>T r.(?) p.(Asp320Tyr) g.50112846G>T Copied from the Exome Variant Server HEATR3_000039 1/12996 1/8600 0/4396
?/? c.1010G>A r.(?) p.(Arg337Lys) g.50112898G>A Copied from the Exome Variant Server HEATR3_000040 10/12996 9/8600 1/4396
?/? c.1012A>G r.(?) p.(Arg338Gly) g.50112900A>G Copied from the Exome Variant Server HEATR3_000041 1/12994 0/8598 1/4396
?/? c.1024G>A r.(?) p.(Val342Ile) g.50112912G>A Copied from the Exome Variant Server HEATR3_000042 1/12988 0/8598 1/4390
?/? c.1041G>A r.(=) p.(=) g.50112929G>A Copied from the Exome Variant Server HEATR3_000043 1/12980 0/8596 1/4384
?/? c.1041+36A>G r.(=) p.(=) g.50112965A>G Copied from the Exome Variant Server HEATR3_000044 1/12860 1/8554 0/4306
?/? c.1042-51A>G r.(=) p.(=) g.50117797A>G Copied from the Exome Variant Server HEATR3_000045 1/12996 0/8600 1/4396
?/? c.1109T>C r.(?) p.(Ile370Thr) g.50117915T>C Copied from the Exome Variant Server HEATR3_000046 5/12996 4/8600 1/4396
?/? c.1110T>C r.(=) p.(=) g.50117916T>C Copied from the Exome Variant Server HEATR3_000047 3/12996 3/8600 0/4396
?/? c.1127A>G r.(?) p.(Asn376Ser) g.50117933A>G Copied from the Exome Variant Server HEATR3_000048 5/12996 0/8600 5/4396
?/? c.1132+31C>T r.(=) p.(=) g.50117969C>T Copied from the Exome Variant Server HEATR3_000049 1/12996 1/8600 0/4396
?/? c.1132+33C>G r.(=) p.(=) g.50117971C>G Copied from the Exome Variant Server HEATR3_000050 101/12996 1/8600 100/4396
?/? c.1133-52C>T r.(=) p.(=) g.50117993C>T Copied from the Exome Variant Server HEATR3_000051 298/10300 1/7164 297/3136
?/? c.1133-42_1133-40del r.(=) p.(=) g.50118003_50118005del Copied from the Exome Variant Server HEATR3_000052 1/12506 0/8244 1/4262
?/? c.1133-30C>A r.(=) p.(=) g.50118015C>A Copied from the Exome Variant Server HEATR3_000053 9/12996 0/8600 9/4396
?/? c.1133-20G>A r.(=) p.(=) g.50118025G>A Copied from the Exome Variant Server HEATR3_000054 1/12996 0/8600 1/4396
?/? c.1133-10C>T r.(=) p.(=) g.50118035C>T Copied from the Exome Variant Server HEATR3_000055 1/12996 0/8600 1/4396
?/? c.1142A>T r.(?) p.(Asp381Val) g.50118054A>T Copied from the Exome Variant Server HEATR3_000056 1/12996 1/8600 0/4396
?/? c.1151G>C r.(?) p.(Trp384Ser) g.50118063G>C Copied from the Exome Variant Server HEATR3_000057 2/12996 2/8600 0/4396
?/? c.1185A>G r.(=) p.(=) g.50118097A>G Copied from the Exome Variant Server HEATR3_000058 1/12996 0/8600 1/4396
?/? c.1213G>A r.(?) p.(Gly405Arg) g.50118125G>A Copied from the Exome Variant Server HEATR3_000059 105/12996 99/8600 6/4396
?/? c.1221G>A r.(=) p.(=) g.50118133G>A Copied from the Exome Variant Server HEATR3_000060 1/12996 1/8600 0/4396
?/? c.1238G>C r.(?) p.(Cys413Ser) g.50118150G>C Copied from the Exome Variant Server HEATR3_000061 1/12996 1/8600 0/4396
?/? c.1246C>T r.(?) p.(His416Tyr) g.50118158C>T Copied from the Exome Variant Server HEATR3_000062 2/12996 1/8600 1/4396
?/? c.1267A>G r.(?) p.(Thr423Ala) g.50118179A>G Copied from the Exome Variant Server HEATR3_000063 1/12996 1/8600 0/4396
?/? c.1290+43G>A r.(=) p.(=) g.50118245G>A Copied from the Exome Variant Server HEATR3_000064 8705/12996 6132/8600 2573/4396
?/? c.1291-50G>A r.(=) p.(=) g.50118430G>A Copied from the Exome Variant Server HEATR3_000065 2/12996 0/8600 2/4396
?/? c.1291-6A>T r.(=) p.(=) g.50118474A>T Copied from the Exome Variant Server HEATR3_000066 40/12996 1/8600 39/4396
?/? c.1306G>C r.(?) p.(Ala436Pro) g.50118495G>C Copied from the Exome Variant Server HEATR3_000067 2/12996 0/8600 2/4396
?/? c.1362T>G r.(=) p.(=) g.50118551T>G Copied from the Exome Variant Server HEATR3_000068 1/12996 0/8600 1/4396
?/? c.1373+6A>G r.(=) p.(=) g.50118568A>G Copied from the Exome Variant Server HEATR3_000069 1/12996 0/8600 1/4396
?/? c.1373+13C>G r.(=) p.(=) g.50118575C>G Copied from the Exome Variant Server HEATR3_000070 3/12996 3/8600 0/4396
?/? c.1374-4C>T r.spl? p.? g.50120122C>T Copied from the Exome Variant Server HEATR3_000071 8702/12996 6121/8600 2581/4396
?/? c.1397C>T r.(?) p.(Ala466Val) g.50120149C>T Copied from the Exome Variant Server HEATR3_000072 1/12994 0/8600 1/4394
?/? c.1432G>T r.(?) p.(Asp478Tyr) g.50120184G>T Copied from the Exome Variant Server HEATR3_000073 2/12990 2/8594 0/4396
?/? c.1466A>T r.(?) p.(Gln489Leu) g.50120218A>T Copied from the Exome Variant Server HEATR3_000074 1/12996 1/8600 0/4396
?/? c.1469C>T r.(?) p.(Thr490Met) g.50120221C>T Copied from the Exome Variant Server HEATR3_000075 1/12996 1/8600 0/4396
?/? c.1489C>T r.(?) p.(Gln497*) g.50120241C>T Copied from the Exome Variant Server HEATR3_000076 1/12996 1/8600 0/4396
?/? c.1510+16T>C r.(=) p.(=) g.50120278T>C Copied from the Exome Variant Server HEATR3_000077 1/12996 1/8600 0/4396
?/? c.1510+18C>T r.(=) p.(=) g.50120280C>T Copied from the Exome Variant Server HEATR3_000078 2/12996 1/8600 1/4396
?/? c.1510+27A>G r.(=) p.(=) g.50120289A>G Copied from the Exome Variant Server HEATR3_000079 5/12996 0/8600 5/4396
?/? c.1510+28C>T r.(=) p.(=) g.50120290C>T Copied from the Exome Variant Server HEATR3_000080 1/12996 1/8600 0/4396
?/? c.1511-44A>G r.(=) p.(=) g.50128572A>G Copied from the Exome Variant Server HEATR3_000081 967/12986 645/8596 322/4390
?/? c.1511-28A>G r.(=) p.(=) g.50128588A>G Copied from the Exome Variant Server HEATR3_000082 36/12988 34/8598 2/4390
?/? c.1543A>G r.(?) p.(Ile515Val) g.50128648A>G Copied from the Exome Variant Server HEATR3_000083 142/12996 2/8600 140/4396
?/? c.1583C>G r.(?) p.(Ser528Cys) g.50128688C>G Copied from the Exome Variant Server HEATR3_000084 3/12996 3/8600 0/4396
?/? c.1590C>T r.(=) p.(=) g.50128695C>T Copied from the Exome Variant Server HEATR3_000085 4/12996 0/8600 4/4396
?/? c.1600-48A>C r.(=) p.(=) g.50134093A>C Copied from the Exome Variant Server HEATR3_000086 2/12996 0/8600 2/4396
?/? c.1600-45A>G r.(=) p.(=) g.50134096A>G Copied from the Exome Variant Server HEATR3_000087 1/12996 1/8600 0/4396
?/? c.1600-32A>G r.(=) p.(=) g.50134109A>G Copied from the Exome Variant Server HEATR3_000089 1/12996 0/8600 1/4396
?/? c.1600-17_1600-13del r.(=) p.(=) g.50134124_50134128del Copied from the Exome Variant Server HEATR3_000091 12/12518 6/8254 6/4264
?/? c.1652G>C r.(?) p.(Ser551Thr) g.50134193G>C Copied from the Exome Variant Server HEATR3_000088 3/12996 0/8600 3/4396
?/? c.1683C>T r.(=) p.(=) g.50134224C>T Copied from the Exome Variant Server HEATR3_000090 1/12996 1/8600 0/4396
?/? c.1705G>A r.(?) p.(Val569Ile) g.50134246G>A Copied from the Exome Variant Server HEATR3_000092 1/12996 1/8600 0/4396
?/? c.1744-27A>G r.(=) p.(=) g.50136143A>G Copied from the Exome Variant Server HEATR3_000093 1/12996 0/8600 1/4396
?/? c.1783C>T r.(?) p.(Pro595Ser) g.50136209C>T Copied from the Exome Variant Server HEATR3_000094 1/12996 1/8600 0/4396
?/? c.1852G>A r.(?) p.(Glu618Lys) g.50136278G>A Copied from the Exome Variant Server HEATR3_000095 3/12996 0/8600 3/4396
?/? c.1894G>C r.(?) p.(Glu632Gln) g.50136320G>C Copied from the Exome Variant Server HEATR3_000096 10/12996 10/8600 0/4396
?/? c.1905G>A r.(=) p.(=) g.50136331G>A Copied from the Exome Variant Server HEATR3_000097 44/12992 40/8600 4/4392
?/? c.1920+41T>C r.(=) p.(=) g.50136387T>C Copied from the Exome Variant Server HEATR3_000098 1/12934 1/8576 0/4358
?/? c.1921-20T>G r.(=) p.(=) g.50138830T>G Copied from the Exome Variant Server HEATR3_000099 1/12994 1/8598 0/4396
?/? c.1942A>G r.(?) p.(Asn648Asp) g.50138871A>G Copied from the Exome Variant Server HEATR3_000100 1/12996 0/8600 1/4396
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