All transcript variants in gene KLHL35

Information The variants shown are described using the NM_001039548.2 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.881+7C>T r.(=) p.(=) g.75140787G>A Copied from the Exome Variant Server KLHL35_000067 19/8740 17/5840 2/2900
?/? c.882-16C>T r.(=) p.(=) g.75139687G>A Copied from the Exome Variant Server KLHL35_000066 13/12498 4/8374 9/4124
?/? c.887T>C r.(?) p.(Met296Thr) g.75139666A>G Copied from the Exome Variant Server KLHL35_000065 1/12442 1/8348 0/4094
?/? c.907G>A r.(?) p.(Val303Met) g.75139646C>T Copied from the Exome Variant Server KLHL35_000064 1/12358 1/8300 0/4058
?/? c.958G>A r.(?) p.(Asp320Asn) g.75139595C>T Copied from the Exome Variant Server KLHL35_000063 1/12308 0/8282 1/4026
?/? c.973G>C r.(?) p.(Glu325Gln) g.75139580C>G Copied from the Exome Variant Server KLHL35_000062 1/12334 1/8310 0/4024
?/? c.1041T>C r.(=) p.(=) g.75139512A>G Copied from the Exome Variant Server KLHL35_000061 1/12296 0/8324 1/3972
?/? c.1066+9G>A r.(=) p.(=) g.75139478C>T Copied from the Exome Variant Server KLHL35_000060 1/12150 0/8288 1/3862
?/? c.1066+15del r.(=) p.(=) g.75139472del Copied from the Exome Variant Server KLHL35_000058 1/11670 1/7942 0/3728
?/? c.1066+15G>A r.(=) p.(=) g.75139472C>T Copied from the Exome Variant Server KLHL35_000059 21/12134 21/8278 0/3856
?/? c.1066+19C>T r.(=) p.(=) g.75139468G>A Copied from the Exome Variant Server KLHL35_000057 1/12134 0/8278 1/3856
?/? c.1067-31C>T r.(=) p.(=) g.75137714G>A Copied from the Exome Variant Server KLHL35_000056 1/12370 1/8350 0/4020
?/? c.1067G>C r.(?) p.(Gly356Ala) g.75137683C>G Copied from the Exome Variant Server KLHL35_000055 1/12458 1/8386 0/4072
?/? c.1073A>G r.(?) p.(His358Arg) g.75137677T>C Copied from the Exome Variant Server KLHL35_000054 1/12490 1/8394 0/4096
?/? c.1082G>A r.(?) p.(Ser361Asn) g.75137668C>T Copied from the Exome Variant Server KLHL35_000053 1/12530 0/8406 1/4124
?/? c.1177C>A r.(?) p.(Gln393Lys) g.75137573G>T Copied from the Exome Variant Server KLHL35_000052 1/12612 0/8420 1/4192
?/? c.1185+23G>T r.(=) p.(=) g.75137542C>A Copied from the Exome Variant Server KLHL35_000051 1/12518 1/8392 0/4126
?/? c.1185+26C>G r.(=) p.(=) g.75137539G>C Copied from the Exome Variant Server KLHL35_000050 8/12506 0/8384 8/4122
?/? c.1185+43G>A r.(=) p.(=) g.75137522C>T Copied from the Exome Variant Server KLHL35_000049 1/12412 0/8344 1/4068
?/? c.1186-21G>A r.(=) p.(=) g.75136647C>T Copied from the Exome Variant Server KLHL35_000048 2/12056 1/8206 1/3850
?/? c.1194G>A r.(=) p.(=) g.75136618C>T Copied from the Exome Variant Server KLHL35_000047 8/12232 8/8274 0/3958
?/? c.1210G>A r.(?) p.(Gly404Ser) g.75136602C>T Copied from the Exome Variant Server KLHL35_000046 2/12208 2/8264 0/3944
?/? c.1220G>A r.(?) p.(Arg407His) g.75136592C>T Copied from the Exome Variant Server KLHL35_000045 1/12190 1/8250 0/3940
?/? c.1283C>T r.(?) p.(Pro428Leu) g.75136529G>A Copied from the Exome Variant Server KLHL35_000044 7/11226 0/7706 7/3520
?/? c.1298C>T r.(?) p.(Ser433Leu) g.75136514G>A Copied from the Exome Variant Server KLHL35_000043 1/11560 1/7844 0/3716
?/? c.1318G>A r.(?) p.(Ala440Thr) g.75136494C>T Copied from the Exome Variant Server KLHL35_000042 1/12008 1/8114 0/3894
?/? c.1320G>A r.(=) p.(=) g.75136492C>T Copied from the Exome Variant Server KLHL35_000041 4/12030 0/8122 4/3908
?/? c.1344C>T r.(=) p.(=) g.75136468G>A Copied from the Exome Variant Server KLHL35_000040 2/12168 2/8182 0/3986
?/? c.1374+22G>A r.(=) p.(=) g.75136416C>T Copied from the Exome Variant Server KLHL35_000039 1/12260 1/8160 0/4100
?/? c.1375-37del r.(=) p.(=) g.75134961del Copied from the Exome Variant Server KLHL35_000038 123/11340 84/7744 39/3596
?/? c.1375-37dup r.(=) p.(=) g.75134961dup Copied from the Exome Variant Server KLHL35_000037 193/11340 71/7744 122/3596
?/? c.1375-6C>T r.(=) p.(=) g.75134930G>A Copied from the Exome Variant Server KLHL35_000036 1/12388 1/8354 0/4034
?/? c.1375G>A r.(?) p.(Val459Met) g.75134924C>T Copied from the Exome Variant Server KLHL35_000035 1/12404 0/8366 1/4038
?/? c.1393A>G r.(?) p.(Lys465Glu) g.75134906T>C Copied from the Exome Variant Server KLHL35_000034 9/12418 9/8376 0/4042
?/? c.1394A>G r.(?) p.(Lys465Arg) g.75134905T>C Copied from the Exome Variant Server KLHL35_000033 1/12424 1/8378 0/4046
?/? c.1402C>T r.(?) p.(Arg468Trp) g.75134897G>A Copied from the Exome Variant Server KLHL35_000032 1/12442 0/8382 1/4060
?/? c.1421C>T r.(?) p.(Pro474Leu) g.75134878G>A Copied from the Exome Variant Server KLHL35_000031 1/12470 1/8384 0/4086
?/? c.1446C>G r.(=) p.(=) g.75134853G>C Copied from the Exome Variant Server KLHL35_000029 1/12492 0/8392 1/4100
?/? c.1447G>C r.(?) p.(Glu483Gln) g.75134852C>G Copied from the Exome Variant Server KLHL35_000030 7/12486 0/8386 7/4100
?/? c.1485G>A r.(=) p.(=) g.75134814C>T Copied from the Exome Variant Server KLHL35_000028 1/12346 1/8326 0/4020
?/? c.1496G>C r.(?) p.(Ser499Thr) g.75134803C>G Copied from the Exome Variant Server KLHL35_000027 1/12316 1/8326 0/3990
?/? c.1501A>G r.(?) p.(Ile501Val) g.75134798T>C Copied from the Exome Variant Server KLHL35_000026 2/12306 1/8324 1/3982
?/? c.1505T>A r.(?) p.(Phe502Tyr) g.75134794A>T Copied from the Exome Variant Server KLHL35_000025 1/12318 1/8330 0/3988
?/? c.1537G>T r.(?) p.(Glu513*) g.75134762C>A Copied from the Exome Variant Server KLHL35_000024 1/12278 1/8298 0/3980
?/? c.1546G>A r.(?) p.(Val516Ile) g.75134753C>T Copied from the Exome Variant Server KLHL35_000023 2/12280 2/8286 0/3994
?/? c.1563+1G>C r.spl? p.? g.75134735C>G Copied from the Exome Variant Server KLHL35_000022 2/12202 2/8248 0/3954
?/? c.1563+28C>T r.(=) p.(=) g.75134708G>A Copied from the Exome Variant Server KLHL35_000021 1/12162 0/8248 1/3914
?/? c.1563+35C>T r.(=) p.(=) g.75134701G>A Copied from the Exome Variant Server KLHL35_000020 2/12148 2/8242 0/3906
?/? c.1563+36G>A r.(=) p.(=) g.75134700C>T Copied from the Exome Variant Server KLHL35_000019 1/12134 1/8242 0/3892
?/? c.1563+42A>G r.(=) p.(=) g.75134694T>C Copied from the Exome Variant Server KLHL35_000018 1/12116 1/8246 0/3870
?/? c.1564-41C>A r.(=) p.(=) g.75133853G>T Copied from the Exome Variant Server KLHL35_000017 1/12104 0/8266 1/3838
?/? c.1564-40A>T r.(=) p.(=) g.75133852T>A Copied from the Exome Variant Server KLHL35_000016 1/12108 1/8264 0/3844
?/? c.1564-8C>T r.(=) p.(=) g.75133820G>A Copied from the Exome Variant Server KLHL35_000015 1/12234 0/8310 1/3924
?/? c.1580C>G r.(?) p.(Thr527Ser) g.75133796G>C Copied from the Exome Variant Server KLHL35_000014 2/12354 2/8368 0/3986
?/? c.1591G>A r.(?) p.(Gly531Arg) g.75133785C>T Copied from the Exome Variant Server KLHL35_000013 1/12394 1/8380 0/4014
?/? c.1611C>T r.(=) p.(=) g.75133765G>A Copied from the Exome Variant Server KLHL35_000012 713/12418 568/8390 145/4028
?/? c.1615C>T r.(?) p.(Arg539Trp) g.75133761G>A Copied from the Exome Variant Server KLHL35_000011 1/12480 1/8410 0/4070
?/? c.1626C>T r.(=) p.(=) g.75133750G>A Copied from the Exome Variant Server KLHL35_000010 2/12520 1/8410 1/4110
?/? c.1639G>A r.(?) p.(Asp547Asn) g.75133737C>T Copied from the Exome Variant Server KLHL35_000009 1/12558 1/8418 0/4140
?/? c.1642A>G r.(?) p.(Lys548Glu) g.75133734T>C Copied from the Exome Variant Server KLHL35_000008 1/12574 1/8420 0/4154
?/? c.1673A>G r.(?) p.(Gln558Arg) g.75133703T>C Copied from the Exome Variant Server KLHL35_000007 5/12666 4/8440 1/4226
?/? c.1684C>T r.(?) p.(Gln562*) g.75133692G>A Copied from the Exome Variant Server KLHL35_000006 1/12696 0/8456 1/4240
?/? c.1701C>T r.(=) p.(=) g.75133675G>A Copied from the Exome Variant Server KLHL35_000005 1/12716 0/8464 1/4252
?/? c.1709G>C r.(?) p.(Ser570Thr) g.75133667C>G Copied from the Exome Variant Server KLHL35_000004 2/12712 0/8458 2/4254
?/? c.1717G>A r.(?) p.(Gly573Ser) g.75133659C>T Copied from the Exome Variant Server KLHL35_000003 1/12688 1/8460 0/4228
?/? c.*31G>A r.(=) p.(=) g.75133593C>T Copied from the Exome Variant Server KLHL35_000002 2/12676 0/8454 2/4222
?/? c.*43G>A r.(=) p.(=) g.75133581C>T Copied from the Exome Variant Server KLHL35_000001 4/12664 4/8448 0/4216
Legend