All transcript variants in gene HSPA8

Information The variants shown are described using the NM_006597.4 transcript reference sequence.

113 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-5-40_-5-37del r.(=) p.(=) g.122932074_122932077del Copied from the Exome Variant Server HSPA8_000108 5/12358 0/8188 5/4170
?/? c.-5-4_-5-3insT r.(=) p.(=) g.122932040_122932041insA Copied from the Exome Variant Server HSPA8_000105 401/12516 3/8254 398/4262
?/? c.-5-4_-5-3insTT r.(=) p.(=) g.122932040_122932041insAA Copied from the Exome Variant Server HSPA8_000104 3/12516 0/8254 3/4262
?/? c.126C>G r.(=) p.(=) g.122931907G>C Copied from the Exome Variant Server HSPA8_000101 1/13002 1/8598 0/4404
?/? c.153C>T r.(=) p.(=) g.122931880G>A Copied from the Exome Variant Server HSPA8_000100 1/13002 1/8598 0/4404
?/? c.205+20T>C r.(=) p.(=) g.122931808A>G Copied from the Exome Variant Server HSPA8_000098 1/13002 0/8598 1/4404
?/? c.205+24A>G r.(=) p.(=) g.122931804T>C Copied from the Exome Variant Server HSPA8_000095 1/13002 0/8598 1/4404
?/? c.205+37C>T r.(=) p.(=) g.122931791G>A Copied from the Exome Variant Server HSPA8_000093 1/13002 1/8598 0/4404
?/? c.206-48C>T r.(=) p.(=) g.122931554G>A Copied from the Exome Variant Server HSPA8_000091 4/12988 4/8596 0/4392
?/? c.206-43G>C r.(=) p.(=) g.122931549C>G Copied from the Exome Variant Server HSPA8_000113 1/12996 0/8594 1/4402
?/? c.206-24_206-23del r.(=) p.(=) g.122931529_122931530del Copied from the Exome Variant Server HSPA8_000112 3094/12518 1417/8254 1677/4264
?/? c.321C>T r.(=) p.(=) g.122931391G>A Copied from the Exome Variant Server HSPA8_000111 1/13002 1/8598 0/4404
?/? c.333C>T r.(=) p.(=) g.122931379G>A Copied from the Exome Variant Server HSPA8_000110 1/13002 0/8598 1/4404
?/? c.375A>G r.(=) p.(=) g.122931337T>C Copied from the Exome Variant Server HSPA8_000109 123/13002 0/8598 123/4404
?/? c.378G>A r.(=) p.(=) g.122931334C>T Copied from the Exome Variant Server HSPA8_000107 3/13002 3/8598 0/4404
?/? c.411+33C>T r.(=) p.(=) g.122931268G>A Copied from the Exome Variant Server HSPA8_000106 202/12998 184/8598 18/4400
?/? c.411+40G>T r.(=) p.(=) g.122931261C>A Copied from the Exome Variant Server HSPA8_000103 1/12992 0/8592 1/4400
?/? c.411+50C>T r.(=) p.(=) g.122931251G>A Copied from the Exome Variant Server HSPA8_000102 31/12960 25/8576 6/4384
?/? c.411+51G>A r.(=) p.(=) g.122931250C>T Copied from the Exome Variant Server HSPA8_000099 10/12950 1/8574 9/4376
?/? c.412-41G>A r.(=) p.(=) g.122931017C>T Copied from the Exome Variant Server HSPA8_000097 185/12984 171/8590 14/4394
?/? c.412-13del r.(=) p.(=) g.122930989del Copied from the Exome Variant Server HSPA8_000096 1/12516 0/8252 1/4264
?/? c.412-7T>C r.(=) p.(=) g.122930983A>G Copied from the Exome Variant Server HSPA8_000094 1/13002 1/8598 0/4404
?/? c.412-5C>T r.spl? p.? g.122930981G>A Copied from the Exome Variant Server HSPA8_000092 3/13002 3/8598 0/4404
?/? c.412-4C>T r.spl? p.? g.122930980G>A Copied from the Exome Variant Server HSPA8_000090 13/13002 0/8598 13/4404
?/? c.486A>G r.(=) p.(=) g.122930902T>C Copied from the Exome Variant Server HSPA8_000089 1/12996 1/8592 0/4404
?/? c.495T>C r.(=) p.(=) g.122930893A>G Copied from the Exome Variant Server HSPA8_000088 2/12996 2/8592 0/4404
?/? c.564+26C>T r.(=) p.(=) g.122930798G>A Copied from the Exome Variant Server HSPA8_000087 1/13002 0/8598 1/4404
?/? c.564+43_565-41del r.spl? p.? g.122930777_122930781del Copied from the Exome Variant Server HSPA8_000086 13/12518 7/8254 6/4264
?/? c.565-37C>T r.(=) p.(=) g.122930773G>A Copied from the Exome Variant Server HSPA8_000085 67/13002 61/8598 6/4404
?/? c.565-35A>G r.(=) p.(=) g.122930771T>C Copied from the Exome Variant Server HSPA8_000084 1/13002 1/8598 0/4404
?/? c.565-10T>G r.(=) p.(=) g.122930746A>C Copied from the Exome Variant Server HSPA8_000083 1/13002 0/8598 1/4404
?/? c.565-7A>T r.(=) p.(=) g.122930743T>A Copied from the Exome Variant Server HSPA8_000082 1/13002 1/8598 0/4404
?/? c.567T>G r.(=) p.(=) g.122930734A>C Copied from the Exome Variant Server HSPA8_000081 3/13002 2/8598 1/4404
?/? c.597C>T r.(=) p.(=) g.122930704G>A Copied from the Exome Variant Server HSPA8_000080 1/13002 1/8598 0/4404
?/? c.708A>G r.(=) p.(=) g.122930593T>C Copied from the Exome Variant Server HSPA8_000079 1/13002 1/8598 0/4404
?/? c.756C>T r.(=) p.(=) g.122930545G>A Copied from the Exome Variant Server HSPA8_000078 1/13002 1/8598 0/4404
?/? c.759C>T r.(=) p.(=) g.122930542G>A Copied from the Exome Variant Server HSPA8_000077 2/13002 0/8598 2/4404
?/? c.792T>C r.(=) p.(=) g.122930509A>G Copied from the Exome Variant Server HSPA8_000076 1/13002 1/8598 0/4404
?/? c.852C>T r.(=) p.(=) g.122930449G>A Copied from the Exome Variant Server HSPA8_000075 3/13002 0/8598 3/4404
?/? c.915G>C r.(=) p.(=) g.122930386C>G Copied from the Exome Variant Server HSPA8_000074 5/13002 0/8598 5/4404
?/? c.921T>C r.(=) p.(=) g.122930380A>G Copied from the Exome Variant Server HSPA8_000073 1/13002 0/8598 1/4404
?/? c.981C>T r.(=) p.(=) g.122930320G>A Copied from the Exome Variant Server HSPA8_000072 1/13002 1/8598 0/4404
?/? c.987A>G r.(=) p.(=) g.122930314T>C Copied from the Exome Variant Server HSPA8_000071 18/13002 17/8598 1/4404
?/? c.989A>T r.(?) p.(Gln330Leu) g.122930312T>A Copied from the Exome Variant Server HSPA8_000070 1/13002 1/8598 0/4404
?/? c.1002T>C r.(=) p.(=) g.122930299A>G Copied from the Exome Variant Server HSPA8_000068 8/13002 6/8598 2/4404
?/? c.1005C>T r.(=) p.(=) g.122930296G>A Copied from the Exome Variant Server HSPA8_000066 21/13002 0/8598 21/4404
?/? c.1056C>T r.(=) p.(=) g.122930245G>A Copied from the Exome Variant Server HSPA8_000064 1/13002 1/8598 0/4404
?/? c.1059C>T r.(=) p.(=) g.122930242G>A Copied from the Exome Variant Server HSPA8_000062 1/13002 1/8598 0/4404
?/? c.1074A>G r.(=) p.(=) g.122930227T>C Copied from the Exome Variant Server HSPA8_000060 99/13002 0/8598 99/4404
?/? c.1092C>T r.(=) p.(=) g.122930209G>A Copied from the Exome Variant Server HSPA8_000058 4/13002 0/8598 4/4404
?/? c.1120+19_1120+22del r.(=) p.(=) g.122930159_122930162del Copied from the Exome Variant Server HSPA8_000056 129/12518 3/8254 126/4264
?/? c.1120+31G>A r.(=) p.(=) g.122930150C>T Copied from the Exome Variant Server HSPA8_000054 1/13002 0/8598 1/4404
?/? c.1120+37A>T r.(=) p.(=) g.122930144T>A Copied from the Exome Variant Server HSPA8_000052 1/13002 0/8598 1/4404
?/? c.1121-51T>C r.(=) p.(=) g.122930020A>G Copied from the Exome Variant Server HSPA8_000049 1/12988 1/8598 0/4390
?/? c.1121-50G>C r.(=) p.(=) g.122930019C>G Copied from the Exome Variant Server HSPA8_000044 1/12988 0/8598 1/4390
?/? c.1121-47C>T r.(=) p.(=) g.122930016G>A Copied from the Exome Variant Server HSPA8_000043 1/12988 1/8598 0/4390
?/? c.1121-35T>C r.(=) p.(=) g.122930004A>G Copied from the Exome Variant Server HSPA8_000038 1/12994 1/8598 0/4396
?/? c.1121-6T>G r.(=) p.(=) g.122929975A>C Copied from the Exome Variant Server HSPA8_000037 2/13000 2/8598 0/4402
?/? c.1121-4C>T r.spl? p.? g.122929973G>A Copied from the Exome Variant Server HSPA8_000032 1/13002 1/8598 0/4404
?/? c.1121-3_1121-2insT r.spl? p.? g.122929971_122929972insA Copied from the Exome Variant Server HSPA8_000069 1/12514 1/8252 0/4262
?/? c.1174C>T r.(=) p.(=) g.122929916G>A Copied from the Exome Variant Server HSPA8_000067 2/13002 0/8598 2/4404
?/? c.1200C>T r.(=) p.(=) g.122929890G>A Copied from the Exome Variant Server HSPA8_000065 5/13002 0/8598 5/4404
?/? c.1225G>A r.(?) p.(Val409Ile) g.122929865C>T Copied from the Exome Variant Server HSPA8_000063 1/13002 1/8598 0/4404
?/? c.1257C>T r.(=) p.(=) g.122929833G>A Copied from the Exome Variant Server HSPA8_000061 1/13002 1/8598 0/4404
?/? c.1323+11_1323+18del r.(=) p.(=) g.122929749_122929756del Copied from the Exome Variant Server HSPA8_000059 21/12518 5/8254 16/4264
?/? c.1323+20_1323+21del r.(=) p.(=) g.122929746_122929747del Copied from the Exome Variant Server HSPA8_000057 1/12518 0/8254 1/4264
?/? c.1323+27G>C r.(=) p.(=) g.122929740C>G Copied from the Exome Variant Server HSPA8_000055 7/13002 6/8598 1/4404
?/? c.1323+39C>T r.(=) p.(=) g.122929728G>A Copied from the Exome Variant Server HSPA8_000053 1/13000 0/8596 1/4404
?/? c.1323+40A>G r.(=) p.(=) g.122929727T>C Copied from the Exome Variant Server HSPA8_000051 169/13000 0/8596 169/4404
?/? c.1323+49G>T r.(=) p.(=) g.122929718C>A Copied from the Exome Variant Server HSPA8_000048 1/13000 1/8596 0/4404
?/? c.1324-32C>A r.(=) p.(=) g.122929570G>T Copied from the Exome Variant Server HSPA8_000046 1/13002 1/8598 0/4404
?/? c.1324-31A>G r.(=) p.(=) g.122929569T>C Copied from the Exome Variant Server HSPA8_000042 2/13002 2/8598 0/4404
?/? c.1324-15T>G r.(=) p.(=) g.122929553A>C Copied from the Exome Variant Server HSPA8_000039 71/13002 0/8598 71/4404
?/? c.1324-6A>G r.(=) p.(=) g.122929544T>C Copied from the Exome Variant Server HSPA8_000035 1/13002 1/8598 0/4404
?/? c.1368T>A r.(=) p.(=) g.122929494A>T Copied from the Exome Variant Server HSPA8_000034 2/13002 1/8598 1/4404
?/? c.1449T>C r.(=) p.(=) g.122929413A>G Copied from the Exome Variant Server HSPA8_000030 2/13002 0/8598 2/4404
?/? c.1455A>C r.(=) p.(=) g.122929407T>G Copied from the Exome Variant Server HSPA8_000028 3205/13002 1469/8598 1736/4404
?/? c.1479G>A r.(=) p.(=) g.122929383C>T Copied from the Exome Variant Server HSPA8_000026 1/13002 0/8598 1/4404
?/? c.1506T>C r.(=) p.(=) g.122929356A>G Copied from the Exome Variant Server HSPA8_000024 2/13002 0/8598 2/4404
?/? c.1522+14G>C r.(=) p.(=) g.122929326C>G Copied from the Exome Variant Server HSPA8_000023 1/13002 1/8598 0/4404
?/? c.1522+27G>C r.(=) p.(=) g.122929313C>G Copied from the Exome Variant Server HSPA8_000021 1/13000 0/8598 1/4402
?/? c.1522+44_1522+45insC r.(=) p.(=) g.122929295_122929296insG Copied from the Exome Variant Server HSPA8_000018 27/12516 13/8254 14/4262
?/? c.1523-51C>G r.(=) p.(=) g.122929243G>C Copied from the Exome Variant Server HSPA8_000016 1/13002 0/8598 1/4404
?/? c.1523-48A>G r.(=) p.(=) g.122929240T>C Copied from the Exome Variant Server HSPA8_000013 1/13002 0/8598 1/4404
?/? c.1523-29C>T r.(=) p.(=) g.122929221G>A Copied from the Exome Variant Server HSPA8_000050 135/13002 123/8598 12/4404
?/? c.1523-16T>A r.(=) p.(=) g.122929208A>T Copied from the Exome Variant Server HSPA8_000047 1/13002 0/8598 1/4404
?/? c.1523-9C>A r.(=) p.(=) g.122929201G>T Copied from the Exome Variant Server HSPA8_000045 468/13002 202/8598 266/4404
?/? c.1523-4C>G r.spl? p.? g.122929196G>C Copied from the Exome Variant Server HSPA8_000041 1/13002 1/8598 0/4404
?/? c.1563A>G r.(=) p.(=) g.122929152T>C Copied from the Exome Variant Server HSPA8_000040 5/13002 5/8598 0/4404
?/? c.1572G>A r.(=) p.(=) g.122929143C>T Copied from the Exome Variant Server HSPA8_000036 1/12998 1/8594 0/4404
?/? c.1590G>A r.(=) p.(=) g.122929125C>T Copied from the Exome Variant Server HSPA8_000033 2/13002 2/8598 0/4404
?/? c.1689C>T r.(=) p.(=) g.122929026G>A Copied from the Exome Variant Server HSPA8_000031 2/13002 2/8598 0/4404
?/? c.1692T>C r.(=) p.(=) g.122929023A>G Copied from the Exome Variant Server HSPA8_000029 74/13002 0/8598 74/4404
?/? c.1755+13_1755+14insG r.(=) p.(=) g.122928946_122928947insC Copied from the Exome Variant Server HSPA8_000027 8/12490 7/8242 1/4248
?/? c.1755+14_1755+15insG r.(=) p.(=) g.122928945_122928946insC Copied from the Exome Variant Server HSPA8_000025 4/12490 4/8242 0/4248
?/? c.1755+39A>G r.(=) p.(=) g.122928921T>C Copied from the Exome Variant Server HSPA8_000022 3/12918 0/8574 3/4344
?/? c.1755+47_1755+48insG r.(=) p.(=) g.122928912_122928913insC Copied from the Exome Variant Server HSPA8_000020 24/12386 9/8216 15/4170
?/? c.1755+47_1755+48insGG r.(=) p.(=) g.122928912_122928913insCC Copied from the Exome Variant Server HSPA8_000019 32/12386 21/8216 11/4170
?/? c.1755+51G>T r.(=) p.(=) g.122928909C>A Copied from the Exome Variant Server HSPA8_000017 1/12926 1/8578 0/4348
?/? c.1756-40A>G r.(=) p.(=) g.122928667T>C Copied from the Exome Variant Server HSPA8_000014 1/12996 0/8596 1/4400
Legend   « First ‹ Prev     1 2     Next › Last »