All transcript variants in gene HTRA2

Information The variants shown are described using the NM_013247.4 transcript reference sequence.

81 entries on 1 page. Showing entries 1 - 81.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-602C>G r.(?) p.(Val49Leu) g.74756532C>G Copied from the Exome Variant Server HTRA2_000001 2/12768 2/8486 0/4282
?/? c.-598G>A r.(=) p.(=) g.74756536G>A Copied from the Exome Variant Server HTRA2_000002 1/12784 1/8490 0/4294
?/? c.-586G>C r.(=) p.(=) g.74756548G>C Copied from the Exome Variant Server HTRA2_000003 1323/12814 1206/8498 117/4316
?/? c.-552G>A r.(?) p.(Ala32Val) g.74756582G>A Copied from the Exome Variant Server HTRA2_000004 1/12774 1/8490 0/4284
?/? c.-551C>A r.(?) p.(Ala32Ser) g.74756583C>A Copied from the Exome Variant Server HTRA2_000005 1/12764 1/8484 0/4280
?/? c.-547G>C r.(=) p.(=) g.74756587G>C Copied from the Exome Variant Server HTRA2_000006 1/12764 1/8484 0/4280
?/? c.-535G>A r.(=) p.(=) g.74756599G>A Copied from the Exome Variant Server HTRA2_000007 1/12712 1/8450 0/4262
?/? c.-524A>C r.(?) p.(Phe23Val) g.74756610A>C Copied from the Exome Variant Server HTRA2_000008 2/12640 0/8392 2/4248
?/? c.-467_-466insA r.(=) p.(=) g.74756667_74756668insA Copied from the Exome Variant Server HTRA2_000009 4/11700 4/7848 0/3852
?/? c.-419G>A r.(=) p.(=) g.74756715G>A Copied from the Exome Variant Server HTRA2_000010 1/11726 1/8078 0/3648
?/? c.-379A>G r.? p.? g.74756755A>G Copied from the Exome Variant Server HTRA2_000011 1/11428 1/7930 0/3498
?/? c.-363G>A r.(=) p.(=) g.74756771G>A Copied from the Exome Variant Server HTRA2_000012 1/11148 1/7762 0/3386
?/? c.-47T>C r.(=) p.(=) g.74757087T>C Copied from the Exome Variant Server HTRA2_000013 1/9230 0/6272 1/2958
?/? c.-44C>G r.(=) p.(=) g.74757090C>G Copied from the Exome Variant Server HTRA2_000014 1/9248 0/6286 1/2962
?/? c.18G>A r.(=) p.(=) g.74757151G>A Copied from the Exome Variant Server HTRA2_000015 2/10938 2/7446 0/3492
?/? c.77G>A r.(?) p.(Gly26Glu) g.74757210G>A Copied from the Exome Variant Server HTRA2_000016 1/12710 0/8428 1/4282
?/? c.195C>T r.(=) p.(=) g.74757328C>T Copied from the Exome Variant Server HTRA2_000017 1/12958 1/8574 0/4384
?/? c.202C>T r.(?) p.(Pro68Ser) g.74757335C>T Copied from the Exome Variant Server HTRA2_000018 21/12954 0/8574 21/4380
?/? c.215T>C r.(?) p.(Leu72Pro) g.74757348T>C Copied from the Exome Variant Server HTRA2_000019 28/12954 26/8572 2/4382
?/? c.239G>T r.(?) p.(Arg80Leu) g.74757372G>T Copied from the Exome Variant Server HTRA2_000020 2/12948 0/8578 2/4370
?/? c.340del r.(?) p.(Ala116Glnfs*93) g.74757473del Copied from the Exome Variant Server HTRA2_000021 66/11868 28/7912 38/3956
?/? c.353_355del r.(?) p.(Leu121del) g.74757486_74757488del Copied from the Exome Variant Server HTRA2_000022 134/11818 106/7902 28/3916
?/? c.354G>A r.(=) p.(=) g.74757487G>A Copied from the Exome Variant Server HTRA2_000023 5/12638 5/8426 0/4212
?/? c.421G>T r.(?) p.(Ala141Ser) g.74757554G>T Copied from the Exome Variant Server HTRA2_000024 231/12676 214/8408 17/4268
?/? c.434G>A r.(?) p.(Ser145Asn) g.74757567G>A Copied from the Exome Variant Server HTRA2_000025 1/12794 1/8478 0/4316
?/? c.480C>G r.(=) p.(=) g.74757613C>G Copied from the Exome Variant Server HTRA2_000026 165/12896 1/8548 164/4348
?/? c.506+5_506+7del r.spl? p.? g.74757644_74757646del Copied from the Exome Variant Server HTRA2_000027 3/12386 1/8172 2/4214
?/? c.506+10G>C r.(=) p.(=) g.74757649G>C Copied from the Exome Variant Server HTRA2_000028 1/12938 1/8560 0/4378
?/? c.506+50G>A r.(=) p.(=) g.74757689G>A Copied from the Exome Variant Server HTRA2_000029 753/12986 7/8590 746/4396
?/? c.507-9C>T r.(=) p.(=) g.74757735C>T Copied from the Exome Variant Server HTRA2_000030 28/13006 0/8600 28/4406
?/? c.510C>T r.(=) p.(=) g.74757747C>T Copied from the Exome Variant Server HTRA2_000031 2/13006 0/8600 2/4406
?/? c.627A>G r.(=) p.(=) g.74757864A>G Copied from the Exome Variant Server HTRA2_000032 7/13006 6/8600 1/4406
?/? c.679G>T r.(?) p.(Ala227Ser) g.74757916G>T Copied from the Exome Variant Server HTRA2_000033 1/13006 1/8600 0/4406
?/? c.693G>T r.(=) p.(=) g.74757930G>T Copied from the Exome Variant Server HTRA2_000034 1/13006 1/8600 0/4406
?/? c.712-40A>T r.(=) p.(=) g.74757998A>T Copied from the Exome Variant Server HTRA2_000035 1/13006 0/8600 1/4406
?/? c.712-34A>G r.(=) p.(=) g.74758004A>G Copied from the Exome Variant Server HTRA2_000036 107/13006 12/8600 95/4406
?/? c.726G>T r.(=) p.(=) g.74758052G>T Copied from the Exome Variant Server HTRA2_000037 1/13006 0/8600 1/4406
?/? c.748G>A r.(?) p.(Asp250Asn) g.74758074G>A Copied from the Exome Variant Server HTRA2_000039 1/13006 1/8600 0/4406
?/? c.852C>T r.(=) p.(=) g.74758178C>T Copied from the Exome Variant Server HTRA2_000041 1/13006 1/8600 0/4406
?/? c.863C>T r.(?) p.(Pro288Leu) g.74758189C>T Copied from the Exome Variant Server HTRA2_000043 1/13006 0/8600 1/4406
?/? c.906+7C>T r.(=) p.(=) g.74758239C>T Copied from the Exome Variant Server HTRA2_000045 2/13006 0/8600 2/4406
?/? c.906+27A>C r.(=) p.(=) g.74758259A>C Copied from the Exome Variant Server HTRA2_000038 1/13002 0/8600 1/4402
?/? c.906+40del r.(=) p.(=) g.74758272del Copied from the Exome Variant Server HTRA2_000040 4/12516 4/8252 0/4264
?/? c.906+45G>C r.(=) p.(=) g.74758277G>C Copied from the Exome Variant Server HTRA2_000042 1/13006 1/8600 0/4406
?/? c.907-72G>A r.(=) p.(=) g.74758394G>A Copied from the Exome Variant Server HTRA2_000044 1/4566 1/3182 0/1384
?/? c.907-49C>T r.(=) p.(=) g.74758417C>T Copied from the Exome Variant Server HTRA2_000046 3/13006 0/8600 3/4406
?/? c.907-37C>T r.(=) p.(=) g.74758429C>T Copied from the Exome Variant Server HTRA2_000047 1/13006 1/8600 0/4406
?/? c.907-19T>G r.(=) p.(=) g.74758447T>G Copied from the Exome Variant Server HTRA2_000048 4/13006 4/8600 0/4406
?/? c.907-7C>G r.(=) p.(=) g.74758459C>G Copied from the Exome Variant Server HTRA2_000049 1/13006 1/8600 0/4406
?/? c.939+15C>T r.(=) p.(=) g.74758513C>T Copied from the Exome Variant Server HTRA2_000050 1/13006 0/8600 1/4406
?/? c.939+55G>T r.(=) p.(=) g.74758553G>T Copied from the Exome Variant Server HTRA2_000051 17/4566 0/3182 17/1384
?/? c.940-47C>T r.(=) p.(=) g.74758677C>T Copied from the Exome Variant Server HTRA2_000052 1/13006 1/8600 0/4406
?/? c.954T>C r.(=) p.(=) g.74758738T>C Copied from the Exome Variant Server HTRA2_000053 1/13006 1/8600 0/4406
?/? c.1010G>A r.(?) p.(Arg337His) g.74758794G>A Copied from the Exome Variant Server HTRA2_000054 2/13006 0/8600 2/4406
?/? c.1015C>T r.(?) p.(Arg339*) g.74758799C>T Copied from the Exome Variant Server HTRA2_000055 1/13006 1/8600 0/4406
?/? c.1045+23C>T r.(=) p.(=) g.74758852C>T Copied from the Exome Variant Server HTRA2_000056 1/13006 1/8600 0/4406
?/? c.1046-49G>A r.(=) p.(=) g.74758934G>A Copied from the Exome Variant Server HTRA2_000057 551/13006 482/8600 69/4406
?/? c.1046-17T>A r.(=) p.(=) g.74758966T>A Copied from the Exome Variant Server HTRA2_000058 1/13006 1/8600 0/4406
?/? c.1046-5C>G r.spl? p.? g.74758978C>G Copied from the Exome Variant Server HTRA2_000059 1/13006 0/8600 1/4406
?/? c.1067G>A r.(?) p.(Gly356Glu) g.74759004G>A Copied from the Exome Variant Server HTRA2_000060 1/13006 1/8600 0/4406
?/? c.1115+8C>T r.(=) p.(=) g.74759060C>T Copied from the Exome Variant Server HTRA2_000061 1/13006 1/8600 0/4406
?/? c.1115+37A>C r.(=) p.(=) g.74759089A>C Copied from the Exome Variant Server HTRA2_000062 2/13006 0/8600 2/4406
?/? c.1116-23T>C r.(=) p.(=) g.74759723T>C Copied from the Exome Variant Server HTRA2_000063 458/13006 3/8600 455/4406
?/? c.1116-10G>A r.(=) p.(=) g.74759736G>A Copied from the Exome Variant Server HTRA2_000064 1/13006 1/8600 0/4406
?/? c.1116-4_1116-3insAA r.spl? p.? g.74759742_74759743insAA Copied from the Exome Variant Server HTRA2_000065 1/12520 1/8254 0/4266
?/? c.1155C>T r.(=) p.(=) g.74759785C>T Copied from the Exome Variant Server HTRA2_000066 10/13006 3/8600 7/4406
?/? c.1158T>C r.(=) p.(=) g.74759788T>C Copied from the Exome Variant Server HTRA2_000067 1/13006 0/8600 1/4406
?/? c.1168G>C r.(?) p.(Gly390Arg) g.74759798G>C Copied from the Exome Variant Server HTRA2_000068 1/13006 1/8600 0/4406
?/? c.1183A>T r.(?) p.(Lys395*) g.74759813A>T Copied from the Exome Variant Server HTRA2_000069 1/13006 1/8600 0/4406
?/? c.1195G>A r.(?) p.(Gly399Ser) g.74759825G>A Copied from the Exome Variant Server HTRA2_000070 44/13006 42/8600 2/4406
?/? c.1211+11G>C r.(=) p.(=) g.74759852G>C Copied from the Exome Variant Server HTRA2_000071 2/13006 2/8600 0/4406
?/? c.1211+45C>T r.(=) p.(=) g.74759886C>T Copied from the Exome Variant Server HTRA2_000072 23/13006 0/8600 23/4406
?/? c.1212-28C>T r.(=) p.(=) g.74759919C>T Copied from the Exome Variant Server HTRA2_000073 23/13006 0/8600 23/4406
?/? c.1212-17T>C r.(=) p.(=) g.74759930T>C Copied from the Exome Variant Server HTRA2_000074 1/13006 0/8600 1/4406
?/? c.1212-15C>T r.(=) p.(=) g.74759932C>T Copied from the Exome Variant Server HTRA2_000075 1/13006 0/8600 1/4406
?/? c.1278T>C r.(=) p.(=) g.74760013T>C Copied from the Exome Variant Server HTRA2_000076 5/13006 0/8600 5/4406
?/? c.1288G>A r.(?) p.(Ala430Thr) g.74760023G>A Copied from the Exome Variant Server HTRA2_000077 1/13006 0/8600 1/4406
?/? c.1341A>G r.(=) p.(=) g.74760076A>G Copied from the Exome Variant Server HTRA2_000078 1/13006 1/8600 0/4406
?/? c.1354G>A r.(?) p.(Val452Met) g.74760089G>A Copied from the Exome Variant Server HTRA2_000079 1/13006 1/8600 0/4406
?/? c.*25C>T r.(=) p.(=) g.74760137C>T Copied from the Exome Variant Server HTRA2_000080 1/13006 0/8600 1/4406
?/? c.*46C>A r.(=) p.(=) g.74760158C>A Copied from the Exome Variant Server HTRA2_000081 1/13006 0/8600 1/4406
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