All transcript variants in gene EPHB1

Information The variants shown are described using the NM_004441.4 transcript reference sequence.

156 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.-49C>T r.(=) p.(=) g.134514425C>T Copied from the Exome Variant Server EPHB1_000001 278/11834 1/8132 277/3702
?/? c.-39G>C r.(=) p.(=) g.134514435G>C Copied from the Exome Variant Server EPHB1_000002 44/11834 2/8118 42/3716
?/? c.-24C>T r.(=) p.(=) g.134514450C>T Copied from the Exome Variant Server EPHB1_000003 1/11668 1/8008 0/3660
?/? c.-12C>T r.(=) p.(=) g.134514462C>T Copied from the Exome Variant Server EPHB1_000004 1/12054 1/8232 0/3822
?/? c.9G>A r.(=) p.(=) g.134514482G>A Copied from the Exome Variant Server EPHB1_000005 1/12210 1/8286 0/3924
?/? c.34G>A r.(?) p.(Ala12Thr) g.134514507G>A Copied from the Exome Variant Server EPHB1_000006 2/12304 0/8330 2/3974
?/? c.37T>C r.(?) p.(Ser13Pro) g.134514510T>C Copied from the Exome Variant Server EPHB1_000007 4/12308 4/8330 0/3978
?/? c.52A>G r.(?) p.(Met18Val) g.134514525A>G Copied from the Exome Variant Server EPHB1_000008 13/12394 10/8354 3/4040
?/? c.58+48T>C r.(=) p.(=) g.134514579T>C Copied from the Exome Variant Server EPHB1_000009 12198/12438 8350/8354 3848/4084
?/? c.58+67G>T r.(=) p.(=) g.134514598G>T Copied from the Exome Variant Server EPHB1_000010 1/4566 1/3182 0/1384
?/? c.59-23C>T r.(=) p.(=) g.134644635C>T Copied from the Exome Variant Server EPHB1_000011 104/11904 2/8212 102/3692
?/? c.59-22G>T r.(=) p.(=) g.134644636G>T Copied from the Exome Variant Server EPHB1_000012 6752/11896 3870/8208 2882/3688
?/? c.62C>T r.(?) p.(Thr21Met) g.134644661C>T Copied from the Exome Variant Server EPHB1_000013 1/11930 1/8208 0/3722
?/? c.81G>A r.(=) p.(=) g.134644680G>A Copied from the Exome Variant Server EPHB1_000014 1/11982 1/8214 0/3768
?/? c.96G>A r.(=) p.(=) g.134644695G>A Copied from the Exome Variant Server EPHB1_000015 1/12028 1/8226 0/3802
?/? c.120C>T r.(=) p.(=) g.134644719C>T Copied from the Exome Variant Server EPHB1_000016 2/12094 2/8256 0/3838
?/? c.123+5G>A r.spl? p.? g.134644727G>A Copied from the Exome Variant Server EPHB1_000017 1/12140 1/8270 0/3870
?/? c.123+16T>G r.(=) p.(=) g.134644738T>G Copied from the Exome Variant Server EPHB1_000018 1/12152 1/8286 0/3866
?/? c.123+18C>T r.(=) p.(=) g.134644740C>T Copied from the Exome Variant Server EPHB1_000019 1/12162 1/8290 0/3872
?/? c.123+19G>A r.(=) p.(=) g.134644741G>A Copied from the Exome Variant Server EPHB1_000020 1/12172 1/8292 0/3880
?/? c.123+55G>A r.(=) p.(=) g.134644777G>A Copied from the Exome Variant Server EPHB1_000021 2/4566 0/3182 2/1384
?/? c.124-40G>A r.(=) p.(=) g.134670173G>A Copied from the Exome Variant Server EPHB1_000022 1/12598 1/8456 0/4142
?/? c.144C>T r.(=) p.(=) g.134670233C>T Copied from the Exome Variant Server EPHB1_000023 1/12878 1/8560 0/4318
?/? c.163A>G r.(?) p.(Ile55Val) g.134670252A>G Copied from the Exome Variant Server EPHB1_000024 1/12882 1/8562 0/4320
?/? c.188T>A r.(?) p.(Val63Asp) g.134670277T>A Copied from the Exome Variant Server EPHB1_000025 1/12836 1/8540 0/4296
?/? c.238C>T r.(?) p.(Arg80Trp) g.134670327C>T Copied from the Exome Variant Server EPHB1_000026 1/12516 1/8424 0/4092
?/? c.248A>G r.(?) p.(His83Arg) g.134670337A>G Copied from the Exome Variant Server EPHB1_000027 1/12550 0/8428 1/4122
?/? c.268C>T r.(?) p.(Arg90Cys) g.134670357C>T Copied from the Exome Variant Server EPHB1_000028 1/12562 0/8438 1/4124
?/? c.435C>T r.(=) p.(=) g.134670524C>T Copied from the Exome Variant Server EPHB1_000029 6034/12368 3757/8414 2277/3954
?/? c.492C>T r.(=) p.(=) g.134670581C>T Copied from the Exome Variant Server EPHB1_000031 1/12230 1/8340 0/3890
?/? c.525C>G r.(=) p.(=) g.134670614C>G Copied from the Exome Variant Server EPHB1_000032 1/12118 1/8284 0/3834
?/? c.553T>G r.(?) p.(Ser185Ala) g.134670642T>G Copied from the Exome Variant Server EPHB1_000033 1/12116 1/8272 0/3844
?/? c.636G>C r.(=) p.(=) g.134670725G>C Copied from the Exome Variant Server EPHB1_000034 2/12354 2/8376 0/3978
?/? c.684C>T r.(=) p.(=) g.134670773C>T Copied from the Exome Variant Server EPHB1_000035 6/12582 5/8440 1/4142
?/? c.699C>T r.(=) p.(=) g.134670788C>T Copied from the Exome Variant Server EPHB1_000036 2/12664 0/8480 2/4184
?/? c.700G>A r.(?) p.(Val234Met) g.134670789G>A Copied from the Exome Variant Server EPHB1_000030 2/12678 2/8484 0/4194
?/? c.806-42C>A r.(=) p.(=) g.134825248C>A Copied from the Exome Variant Server EPHB1_000037 1/12068 1/8238 0/3830
?/? c.806-21C>G r.(=) p.(=) g.134825269C>G Copied from the Exome Variant Server EPHB1_000038 1/12100 1/8262 0/3838
?/? c.852C>T r.(=) p.(=) g.134825336C>T Copied from the Exome Variant Server EPHB1_000039 9/12136 0/8268 9/3868
?/? c.870C>T r.(=) p.(=) g.134825354C>T Copied from the Exome Variant Server EPHB1_000040 2/12066 2/8248 0/3818
?/? c.891G>A r.(=) p.(=) g.134825375G>A Copied from the Exome Variant Server EPHB1_000041 5/12098 4/8258 1/3840
?/? c.911G>A r.(?) p.(Arg304Gln) g.134825395G>A Copied from the Exome Variant Server EPHB1_000042 2/12120 2/8270 0/3850
?/? c.915C>T r.(=) p.(=) g.134825399C>T Copied from the Exome Variant Server EPHB1_000043 1/12130 0/8274 1/3856
?/? c.954A>G r.(=) p.(=) g.134825438A>G Copied from the Exome Variant Server EPHB1_000044 4/12210 4/8298 0/3912
?/? c.961+46A>G r.(=) p.(=) g.134825491A>G Copied from the Exome Variant Server EPHB1_000045 1/12304 1/8346 0/3958
?/? c.962-15T>C r.(=) p.(=) g.134851541T>C Copied from the Exome Variant Server EPHB1_000046 1/12412 1/8376 0/4036
?/? c.1011C>T r.(=) p.(=) g.134851605C>T Copied from the Exome Variant Server EPHB1_000047 521/12522 10/8406 511/4116
?/? c.1090C>T r.(?) p.(Arg364Trp) g.134851684C>T Copied from the Exome Variant Server EPHB1_000048 1/12906 0/8552 1/4354
?/? c.1091G>A r.(?) p.(Arg364Gln) g.134851685G>A Copied from the Exome Variant Server EPHB1_000049 1/12944 0/8574 1/4370
?/? c.1103G>A r.(?) p.(Arg368Gln) g.134851697G>A Copied from the Exome Variant Server EPHB1_000050 1/12972 0/8582 1/4390
?/? c.1115G>A r.(?) p.(Arg372His) g.134851709G>A Copied from the Exome Variant Server EPHB1_000051 1/12980 1/8590 0/4390
?/? c.1122C>T r.(=) p.(=) g.134851716C>T Copied from the Exome Variant Server EPHB1_000053 47/12982 1/8588 46/4394
?/? c.1123G>A r.(?) p.(Asp375Asn) g.134851717G>A Copied from the Exome Variant Server EPHB1_000055 1/12984 0/8588 1/4396
?/? c.1161G>A r.(=) p.(=) g.134851755G>A Copied from the Exome Variant Server EPHB1_000057 1/12988 0/8590 1/4398
?/? c.1169G>A r.(?) p.(Arg390His) g.134851763G>A Copied from the Exome Variant Server EPHB1_000059 1/12988 1/8592 0/4396
?/? c.1185C>A r.(?) p.(Ser395Arg) g.134851779C>A Copied from the Exome Variant Server EPHB1_000061 2/12966 1/8574 1/4392
?/? c.1208C>T r.(?) p.(Thr403Ile) g.134851802C>T Copied from the Exome Variant Server EPHB1_000063 4/12918 0/8548 4/4370
?/? c.1229A>G r.(?) p.(Asn410Ser) g.134851823A>G Copied from the Exome Variant Server EPHB1_000065 2/12904 2/8536 0/4368
?/? c.1256C>T r.(?) p.(Pro419Leu) g.134851850C>T Copied from the Exome Variant Server EPHB1_000067 1/12832 1/8496 0/4336
?/? c.1257C>T r.(=) p.(=) g.134851851C>T Copied from the Exome Variant Server EPHB1_000069 1/12826 1/8494 0/4332
?/? c.1266C>T r.(=) p.(=) g.134851860C>T Copied from the Exome Variant Server EPHB1_000071 1/12798 0/8478 1/4320
?/? c.1267G>A r.(?) p.(Val423Ile) g.134851861G>A Copied from the Exome Variant Server EPHB1_000052 1/12790 1/8480 0/4310
?/? c.1297+41C>T r.(=) p.(=) g.134851932C>T Copied from the Exome Variant Server EPHB1_000054 520/12634 9/8434 511/4200
?/? c.1298-23C>G r.(=) p.(=) g.134872971C>G Copied from the Exome Variant Server EPHB1_000056 1/12672 0/8490 1/4182
?/? c.1298-10C>G r.(=) p.(=) g.134872984C>G Copied from the Exome Variant Server EPHB1_000058 1/12722 1/8500 0/4222
?/? c.1308C>T r.(=) p.(=) g.134873004C>T Copied from the Exome Variant Server EPHB1_000060 3/12850 0/8556 3/4294
?/? c.1309G>A r.(?) p.(Val437Ile) g.134873005G>A Copied from the Exome Variant Server EPHB1_000062 1/12868 1/8564 0/4304
?/? c.1408C>T r.(?) p.(Arg470Trp) g.134873104C>T Copied from the Exome Variant Server EPHB1_000064 2/12972 2/8598 0/4374
?/? c.1416T>C r.(=) p.(=) g.134873112T>C Copied from the Exome Variant Server EPHB1_000066 1/12964 0/8598 1/4366
?/? c.1422+51C>G r.(=) p.(=) g.134873169C>G Copied from the Exome Variant Server EPHB1_000068 2/7100 0/4576 2/2524
?/? c.1423-27G>A r.(=) p.(=) g.134880833G>A Copied from the Exome Variant Server EPHB1_000070 4/12398 4/8358 0/4040
?/? c.1423-7C>G r.(=) p.(=) g.134880853C>G Copied from the Exome Variant Server EPHB1_000072 3/12456 3/8382 0/4074
?/? c.1434G>A r.(=) p.(=) g.134880871G>A Copied from the Exome Variant Server EPHB1_000073 1/12564 1/8428 0/4136
?/? c.1454G>A r.(?) p.(Arg485Lys) g.134880891G>A Copied from the Exome Variant Server EPHB1_000074 3/12658 3/8476 0/4182
?/? c.1489C>A r.(=) p.(=) g.134880926C>A Copied from the Exome Variant Server EPHB1_000075 3/12786 3/8514 0/4272
?/? c.1490G>T r.(?) p.(Arg497Leu) g.134880927G>T Copied from the Exome Variant Server EPHB1_000076 3/12784 3/8510 0/4274
?/? c.1582G>A r.(?) p.(Asp528Asn) g.134881019G>A Copied from the Exome Variant Server EPHB1_000077 1/12834 1/8534 0/4300
?/? c.1585+10G>A r.(=) p.(=) g.134881032G>A Copied from the Exome Variant Server EPHB1_000078 5/12730 2/8502 3/4228
?/? c.1585+32C>T r.(=) p.(=) g.134881054C>T Copied from the Exome Variant Server EPHB1_000079 1/12664 0/8472 1/4192
?/? c.1586-33T>C r.(=) p.(=) g.134884777T>C Copied from the Exome Variant Server EPHB1_000080 31/12478 0/8384 31/4094
?/? c.1609G>A r.(?) p.(Glu537Lys) g.134884833G>A Copied from the Exome Variant Server EPHB1_000081 2/12692 2/8478 0/4214
?/? c.1635G>A r.(=) p.(=) g.134884859G>A Copied from the Exome Variant Server EPHB1_000082 4/12716 0/8478 4/4238
?/? c.1651G>A r.(?) p.(Val551Met) g.134884875G>A Copied from the Exome Variant Server EPHB1_000083 1/12756 1/8496 0/4260
?/? c.1656C>T r.(=) p.(=) g.134884880C>T Copied from the Exome Variant Server EPHB1_000084 38/12762 30/8496 8/4266
?/? c.1679C>T r.(?) p.(Ser560Phe) g.134884903C>T Copied from the Exome Variant Server EPHB1_000085 1/12800 1/8518 0/4282
?/? c.1683C>T r.(=) p.(=) g.134884907C>T Copied from the Exome Variant Server EPHB1_000086 2/12806 1/8514 1/4292
?/? c.1684G>A r.(?) p.(Val562Ile) g.134884908G>A Copied from the Exome Variant Server EPHB1_000087 5/12788 5/8508 0/4280
?/? c.1695-45G>C r.(=) p.(=) g.134885739G>C Copied from the Exome Variant Server EPHB1_000088 9/12148 0/8268 9/3880
?/? c.1695-14C>T r.(=) p.(=) g.134885770C>T Copied from the Exome Variant Server EPHB1_000089 20/12144 0/8286 20/3858
?/? c.1695-8A>G r.(=) p.(=) g.134885776A>G Copied from the Exome Variant Server EPHB1_000090 1/12136 0/8274 1/3862
?/? c.1728C>T r.(=) p.(=) g.134885817C>T Copied from the Exome Variant Server EPHB1_000091 2/12108 2/8274 0/3834
?/? c.1759+28T>A r.(=) p.(=) g.134885876T>A Copied from the Exome Variant Server EPHB1_000092 1/12036 1/8250 0/3786
?/? c.1759+38A>G r.(=) p.(=) g.134885886A>G Copied from the Exome Variant Server EPHB1_000093 250/12024 12/8232 238/3792
?/? c.1760-35T>C r.(=) p.(=) g.134898667T>C Copied from the Exome Variant Server EPHB1_000094 2/12520 1/8404 1/4116
?/? c.1760-30A>C r.(=) p.(=) g.134898672A>C Copied from the Exome Variant Server EPHB1_000095 2/12512 2/8396 0/4116
?/? c.1760-22C>T r.(=) p.(=) g.134898680C>T Copied from the Exome Variant Server EPHB1_000096 1/12498 1/8396 0/4102
?/? c.1800C>T r.(=) p.(=) g.134898742C>T Copied from the Exome Variant Server EPHB1_000097 5135/12326 3256/8394 1879/3932
?/? c.1812C>T r.(=) p.(=) g.134898754C>T Copied from the Exome Variant Server EPHB1_000098 2/12310 1/8376 1/3934
?/? c.1856T>C r.(?) p.(Val619Ala) g.134898798T>C Copied from the Exome Variant Server EPHB1_000099 1/12218 1/8330 0/3888
?/? c.1870G>A r.(?) p.(Val624Ile) g.134898812G>A Copied from the Exome Variant Server EPHB1_000100 1/12196 0/8314 1/3882
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