All transcript variants in gene EHBP1L1

Information The variants shown are described using the NM_001099409.1 transcript reference sequence.

206 entries on 3 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.92G>A r.(?) p.(Cys31Tyr) g.65343865G>A Copied from the Exome Variant Server EHBP1L1_000001 1/12066 0/8220 1/3846
?/? c.104+26del r.(=) p.(=) g.65343903del Copied from the Exome Variant Server EHBP1L1_000002 9/11248 8/7704 1/3544
?/? c.146G>A r.(?) p.(Arg49Gln) g.65346590G>A Copied from the Exome Variant Server EHBP1L1_000003 1/12158 1/8272 0/3886
?/? c.150C>T r.(=) p.(=) g.65346594C>T Copied from the Exome Variant Server EHBP1L1_000004 1/12118 1/8260 0/3858
?/? c.156C>T r.(=) p.(=) g.65346600C>T Copied from the Exome Variant Server EHBP1L1_000005 3/12086 3/8256 0/3830
?/? c.158C>G r.(?) p.(Ser53Cys) g.65346602C>G Copied from the Exome Variant Server EHBP1L1_000006 2/12074 1/8252 1/3822
?/? c.162+15C>T r.(=) p.(=) g.65346621C>T Copied from the Exome Variant Server EHBP1L1_000007 28/12062 0/8238 28/3824
?/? c.162+18C>G r.(=) p.(=) g.65346624C>G Copied from the Exome Variant Server EHBP1L1_000008 176/12038 2/8226 174/3812
?/? c.162+46G>A r.(=) p.(=) g.65346652G>A Copied from the Exome Variant Server EHBP1L1_000009 1/11982 1/8190 0/3792
?/? c.163-29G>C r.(=) p.(=) g.65346783G>C Copied from the Exome Variant Server EHBP1L1_000010 2/12316 0/8276 2/4040
?/? c.163-13T>A r.(=) p.(=) g.65346799T>A Copied from the Exome Variant Server EHBP1L1_000011 4/12362 0/8296 4/4066
?/? c.176A>T r.(?) p.(Gln59Leu) g.65346825A>T Copied from the Exome Variant Server EHBP1L1_000012 1/12404 1/8332 0/4072
?/? c.179C>T r.(?) p.(Pro60Leu) g.65346828C>T Copied from the Exome Variant Server EHBP1L1_000013 1/12404 0/8334 1/4070
?/? c.180G>A r.(=) p.(=) g.65346829G>A Copied from the Exome Variant Server EHBP1L1_000014 2/12406 2/8344 0/4062
?/? c.197A>C r.(?) p.(Tyr66Ser) g.65346846A>C Copied from the Exome Variant Server EHBP1L1_000015 3/12362 3/8344 0/4018
?/? c.204C>T r.(=) p.(=) g.65346853C>T Copied from the Exome Variant Server EHBP1L1_000016 13/12422 13/8352 0/4070
?/? c.208G>A r.(?) p.(Val70Met) g.65346857G>A Copied from the Exome Variant Server EHBP1L1_000017 1/12424 1/8358 0/4066
?/? c.232G>A r.(?) p.(Val78Met) g.65346881G>A Copied from the Exome Variant Server EHBP1L1_000018 199/12452 2/8358 197/4094
?/? c.249C>G r.(=) p.(=) g.65346898C>G Copied from the Exome Variant Server EHBP1L1_000019 4/12398 3/8326 1/4072
?/? c.254A>G r.(?) p.(Tyr85Cys) g.65346903A>G Copied from the Exome Variant Server EHBP1L1_000020 1/12370 1/8324 0/4046
?/? c.255C>T r.(=) p.(=) g.65346904C>T Copied from the Exome Variant Server EHBP1L1_000021 1/12370 0/8324 1/4046
?/? c.258+9C>T r.(=) p.(=) g.65346916C>T Copied from the Exome Variant Server EHBP1L1_000022 1/12342 0/8310 1/4032
?/? c.259-52C>G r.(=) p.(=) g.65347355C>G Copied from the Exome Variant Server EHBP1L1_000023 1/4566 1/3182 0/1384
?/? c.259-40del r.(=) p.(=) g.65347367del Copied from the Exome Variant Server EHBP1L1_000024 2/11930 0/8000 2/3930
?/? c.259-38C>T r.(=) p.(=) g.65347369C>T Copied from the Exome Variant Server EHBP1L1_000025 1/12426 0/8348 1/4078
?/? c.259-37C>T r.(=) p.(=) g.65347370C>T Copied from the Exome Variant Server EHBP1L1_000026 1/12420 1/8348 0/4072
?/? c.259-28C>T r.(=) p.(=) g.65347379C>T Copied from the Exome Variant Server EHBP1L1_000027 25/12408 0/8346 25/4062
?/? c.259-13C>T r.(=) p.(=) g.65347394C>T Copied from the Exome Variant Server EHBP1L1_000028 1/12378 0/8344 1/4034
?/? c.283G>A r.(?) p.(Ala95Thr) g.65347431G>A Copied from the Exome Variant Server EHBP1L1_000029 3/12186 0/8262 3/3924
?/? c.312+24G>A r.(=) p.(=) g.65347484G>A Copied from the Exome Variant Server EHBP1L1_000030 4/12114 0/8250 4/3864
?/? c.312+36G>C r.(=) p.(=) g.65347496G>C Copied from the Exome Variant Server EHBP1L1_000031 1/12102 1/8246 0/3856
?/? c.313-43C>G r.(=) p.(=) g.65347509C>G Copied from the Exome Variant Server EHBP1L1_000032 1/12118 1/8260 0/3858
?/? c.313-36G>A r.(=) p.(=) g.65347516G>A Copied from the Exome Variant Server EHBP1L1_000033 2/12122 2/8258 0/3864
?/? c.344C>T r.(?) p.(Thr115Met) g.65347583C>T Copied from the Exome Variant Server EHBP1L1_000034 1/12398 1/8328 0/4070
?/? c.377C>T r.(?) p.(Pro126Leu) g.65347616C>T Copied from the Exome Variant Server EHBP1L1_000035 1/12642 1/8400 0/4242
?/? c.379G>A r.(?) p.(Val127Met) g.65347618G>A Copied from the Exome Variant Server EHBP1L1_000036 1/12686 0/8422 1/4264
?/? c.397G>C r.(?) p.(Val133Leu) g.65347636G>C Copied from the Exome Variant Server EHBP1L1_000037 12764/12772 8466/8466 4298/4306
?/? c.406C>T r.(?) p.(Arg136Trp) g.65347645C>T Copied from the Exome Variant Server EHBP1L1_000038 6/12804 0/8486 6/4318
?/? c.407G>A r.(?) p.(Arg136Gln) g.65347646G>A Copied from the Exome Variant Server EHBP1L1_000039 1/12824 1/8494 0/4330
?/? c.463G>A r.(?) p.(Gly155Arg) g.65347702G>A Copied from the Exome Variant Server EHBP1L1_000040 1/12958 1/8572 0/4386
?/? c.476G>A r.(?) p.(Arg159Gln) g.65347715G>A Copied from the Exome Variant Server EHBP1L1_000041 1/12966 1/8574 0/4392
?/? c.491+3G>T r.spl? p.? g.65347733G>T Copied from the Exome Variant Server EHBP1L1_000042 2/12982 2/8586 0/4396
?/? c.491+6T>C r.(=) p.(=) g.65347736T>C Copied from the Exome Variant Server EHBP1L1_000044 2/12980 2/8586 0/4394
?/? c.496G>A r.(?) p.(Asp166Asn) g.65347812G>A Copied from the Exome Variant Server EHBP1L1_000046 2/12942 2/8562 0/4380
?/? c.514G>A r.(?) p.(Ala172Thr) g.65347830G>A Copied from the Exome Variant Server EHBP1L1_000049 5/12926 4/8548 1/4378
?/? c.589C>T r.(?) p.(His197Tyr) g.65347905C>T Copied from the Exome Variant Server EHBP1L1_000043 2/12540 2/8396 0/4144
?/? c.606G>A r.(=) p.(=) g.65347922G>A Copied from the Exome Variant Server EHBP1L1_000045 272/12242 2/8314 270/3928
?/? c.608A>G r.(?) p.(Glu203Gly) g.65347924A>G Copied from the Exome Variant Server EHBP1L1_000047 1/12230 0/8316 1/3914
?/? c.614G>A r.(?) p.(Arg205Gln) g.65347930G>A Copied from the Exome Variant Server EHBP1L1_000048 2/12188 2/8284 0/3904
?/? c.620G>A r.(?) p.(Arg207Gln) g.65347936G>A Copied from the Exome Variant Server EHBP1L1_000050 1/12174 0/8276 1/3898
?/? c.626C>G r.(?) p.(Pro209Arg) g.65347942C>G Copied from the Exome Variant Server EHBP1L1_000051 1/12158 1/8272 0/3886
?/? c.629A>C r.(?) p.(Gln210Pro) g.65347945A>C Copied from the Exome Variant Server EHBP1L1_000052 5/12148 2/8264 3/3884
?/? c.635-36T>C r.(=) p.(=) g.65348493T>C Copied from the Exome Variant Server EHBP1L1_000053 3/12200 3/8256 0/3944
?/? c.635-28C>T r.(=) p.(=) g.65348501C>T Copied from the Exome Variant Server EHBP1L1_000054 1/12228 0/8270 1/3958
?/? c.635-18C>G r.(=) p.(=) g.65348511C>G Copied from the Exome Variant Server EHBP1L1_000055 19/12240 0/8286 19/3954
?/? c.635-5_653del r.spl? p.? g.65348524_65348547del Copied from the Exome Variant Server EHBP1L1_000056 7/11738 2/7942 5/3796
?/? c.635A>G r.(?) p.(Asp212Gly) g.65348529A>G Copied from the Exome Variant Server EHBP1L1_000057 4/12258 0/8310 4/3948
?/? c.656C>T r.(?) p.(Thr219Met) g.65348550C>T Copied from the Exome Variant Server EHBP1L1_000058 1/12248 1/8300 0/3948
?/? c.689G>A r.(?) p.(Arg230Gln) g.65348583G>A Copied from the Exome Variant Server EHBP1L1_000059 580/12238 16/8308 564/3930
?/? c.703+40C>G r.(=) p.(=) g.65348637C>G Copied from the Exome Variant Server EHBP1L1_000060 2/12232 0/8304 2/3928
?/? c.727G>T r.(?) p.(Asp243Tyr) g.65348705G>T Copied from the Exome Variant Server EHBP1L1_000061 1/12152 1/8254 0/3898
?/? c.739G>A r.(?) p.(Ala247Thr) g.65348717G>A Copied from the Exome Variant Server EHBP1L1_000062 1/12102 1/8222 0/3880
?/? c.747G>A r.(=) p.(=) g.65348725G>A Copied from the Exome Variant Server EHBP1L1_000063 736/12068 669/8216 67/3852
?/? c.758C>T r.(?) p.(Ala253Val) g.65348736C>T Copied from the Exome Variant Server EHBP1L1_000064 6/11980 6/8186 0/3794
?/? c.867-32C>G r.(=) p.(=) g.65348978C>G Copied from the Exome Variant Server EHBP1L1_000065 29/11896 0/8110 29/3786
?/? c.894G>A r.(=) p.(=) g.65349037G>A Copied from the Exome Variant Server EHBP1L1_000066 207/11840 194/8108 13/3732
?/? c.920G>A r.(?) p.(Arg307Gln) g.65349063G>A Copied from the Exome Variant Server EHBP1L1_000067 5389/11722 3726/8058 1663/3664
?/? c.1057G>A r.(?) p.(Ala353Thr) g.65349200G>A Copied from the Exome Variant Server EHBP1L1_000068 2/12078 0/8224 2/3854
?/? c.1092T>A r.(?) p.(Asp364Glu) g.65349235T>A Copied from the Exome Variant Server EHBP1L1_000069 58/12236 1/8288 57/3948
?/? c.1097G>T r.(?) p.(Gly366Val) g.65349240G>T Copied from the Exome Variant Server EHBP1L1_000070 4/12300 4/8306 0/3994
?/? c.1131G>A r.(=) p.(=) g.65349274G>A Copied from the Exome Variant Server EHBP1L1_000071 4/12528 4/8396 0/4132
?/? c.1187C>T r.(?) p.(Pro396Leu) g.65349330C>T Copied from the Exome Variant Server EHBP1L1_000072 1/12782 1/8494 0/4288
?/? c.1209A>G r.(=) p.(=) g.65349352A>G Copied from the Exome Variant Server EHBP1L1_000073 2/12856 1/8542 1/4314
?/? c.1249G>A r.(?) p.(Glu417Lys) g.65349392G>A Copied from the Exome Variant Server EHBP1L1_000074 1/12870 1/8546 0/4324
?/? c.1301_1302del r.(?) p.(His434Argfs*4) g.65349444_65349445del Copied from the Exome Variant Server EHBP1L1_000075 2/12286 2/8152 0/4134
?/? c.1309A>G r.(?) p.(Thr437Ala) g.65349452A>G Copied from the Exome Variant Server EHBP1L1_000076 2/12764 0/8492 2/4272
?/? c.1325C>T r.(?) p.(Ala442Val) g.65349468C>T Copied from the Exome Variant Server EHBP1L1_000077 1/12704 1/8470 0/4234
?/? c.1335G>A r.(=) p.(=) g.65349478G>A Copied from the Exome Variant Server EHBP1L1_000078 1/12564 1/8420 0/4144
?/? c.1420G>T r.(?) p.(Ala474Ser) g.65349563G>T Copied from the Exome Variant Server EHBP1L1_000079 1/12048 1/8204 0/3844
?/? c.1482C>T r.(=) p.(=) g.65349625C>T Copied from the Exome Variant Server EHBP1L1_000080 2/12150 2/8256 0/3894
?/? c.1549G>C r.(?) p.(Gly517Arg) g.65349692G>C Copied from the Exome Variant Server EHBP1L1_000081 51/12156 0/8256 51/3900
?/? c.1613T>G r.(?) p.(Val538Gly) g.65349756T>G Copied from the Exome Variant Server EHBP1L1_000082 5042/11886 3862/8144 1180/3742
?/? c.1641A>G r.(=) p.(=) g.65349784A>G Copied from the Exome Variant Server EHBP1L1_000083 2/11760 2/8106 0/3654
?/? c.1645G>T r.(?) p.(Ala549Ser) g.65349788G>T Copied from the Exome Variant Server EHBP1L1_000084 1/11750 1/8108 0/3642
?/? c.1706A>T r.(?) p.(Asp569Val) g.65349849A>T Copied from the Exome Variant Server EHBP1L1_000085 11346/11934 8172/8188 3174/3746
?/? c.1733G>A r.(?) p.(Gly578Glu) g.65349876G>A Copied from the Exome Variant Server EHBP1L1_000086 1/12016 1/8234 0/3782
?/? c.1757_1760del r.(?) p.(Glu588Leufs*12) g.65349900_65349903del Copied from the Exome Variant Server EHBP1L1_000087 1/11580 1/7908 0/3672
?/? c.1773G>A r.(=) p.(=) g.65349916G>A Copied from the Exome Variant Server EHBP1L1_000088 1/12166 1/8282 0/3884
?/? c.1783C>T r.(?) p.(Pro595Ser) g.65349926C>T Copied from the Exome Variant Server EHBP1L1_000089 5/12186 0/8282 5/3904
?/? c.1811T>C r.(?) p.(Ile604Thr) g.65349954T>C Copied from the Exome Variant Server EHBP1L1_000090 1/12262 0/8312 1/3950
?/? c.1813T>C r.(=) p.(=) g.65349956T>C Copied from the Exome Variant Server EHBP1L1_000091 4/12266 4/8320 0/3946
?/? c.1907C>G r.(?) p.(Thr636Arg) g.65350050C>G Copied from the Exome Variant Server EHBP1L1_000092 2/12242 2/8324 0/3918
?/? c.1918G>T r.(?) p.(Val640Phe) g.65350061G>T Copied from the Exome Variant Server EHBP1L1_000093 21/12188 1/8308 20/3880
?/? c.1919T>A r.(?) p.(Val640Asp) g.65350062T>A Copied from the Exome Variant Server EHBP1L1_000094 1/12188 1/8308 0/3880
?/? c.1951T>C r.(=) p.(=) g.65350094T>C Copied from the Exome Variant Server EHBP1L1_000095 1/12052 0/8260 1/3792
?/? c.2003C>T r.(?) p.(Thr668Ile) g.65350146C>T Copied from the Exome Variant Server EHBP1L1_000096 3/12040 0/8256 3/3784
?/? c.2115G>A r.(=) p.(=) g.65350258G>A Copied from the Exome Variant Server EHBP1L1_000097 3/12012 0/8230 3/3782
?/? c.2116G>C r.(?) p.(Val706Leu) g.65350259G>C Copied from the Exome Variant Server EHBP1L1_000098 1/12018 0/8232 1/3786
?/? c.2169A>G r.(?) p.(Ile723Met) g.65350312A>G Copied from the Exome Variant Server EHBP1L1_000099 1/11996 0/8230 1/3766
?/? c.2177C>T r.(?) p.(Thr726Ile) g.65350320C>T Copied from the Exome Variant Server EHBP1L1_000100 1/12022 1/8234 0/3788
Legend   « First ‹ Prev     1 2 3     Next › Last »