Unique variants in gene CASC4

Information The variants shown are described using the NM_138423.3 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-37_-35del r.(=) p.(=) g.44581191_44581193del Copied from the Exome Variant Server CASC4_000001 6/12426 4/8200 2/4226
1 c.-19T>C r.(=) p.(=) g.44581209T>C Copied from the Exome Variant Server CASC4_000002 1/12982 1/8588 0/4394
1 c.48C>T r.(=) p.(=) g.44581275C>T Copied from the Exome Variant Server CASC4_000003 1/12992 0/8596 1/4396
1 c.84C>T r.(=) p.(=) g.44581311C>T Copied from the Exome Variant Server CASC4_000004 470/12990 1/8594 469/4396
1 c.103A>G r.(?) p.(Ile35Val) g.44581330A>G Copied from the Exome Variant Server CASC4_000005 1/12992 1/8596 0/4396
1 c.111C>G r.(=) p.(=) g.44581338C>G Copied from the Exome Variant Server CASC4_000006 21/12988 0/8592 21/4396
1 c.147G>T r.(=) p.(=) g.44581374G>T Copied from the Exome Variant Server CASC4_000007 1/12992 0/8596 1/4396
1 c.168C>G r.(=) p.(=) g.44581395C>G Copied from the Exome Variant Server CASC4_000008 2/12988 0/8596 2/4392
1 c.234G>A r.(=) p.(=) g.44581461G>A Copied from the Exome Variant Server CASC4_000009 229/12982 208/8590 21/4392
1 c.261C>G r.(?) p.(Asp87Glu) g.44581488C>G Copied from the Exome Variant Server CASC4_000010 1/12884 1/8538 0/4346
1 c.281G>A r.(?) p.(Arg94Gln) g.44581508G>A Copied from the Exome Variant Server CASC4_000011 5/12652 0/8392 5/4260
1 c.327+46C>T r.(=) p.(=) g.44581600C>T Copied from the Exome Variant Server CASC4_000012 863/11940 147/8032 716/3908
1 c.328-35T>C r.(=) p.(=) g.44615128T>C Copied from the Exome Variant Server CASC4_000013 1/12934 1/8548 0/4386
1 c.328-11del r.(=) p.(=) g.44615152del Copied from the Exome Variant Server CASC4_000014 82/12488 42/8224 40/4264
1 c.339G>C r.(?) p.(Gln113His) g.44615174G>C Copied from the Exome Variant Server CASC4_000015 4/12974 1/8578 3/4396
1 c.356A>G r.(?) p.(Gln119Arg) g.44615191A>G Copied from the Exome Variant Server CASC4_000016 1/12976 1/8580 0/4396
1 c.383-13C>G r.(=) p.(=) g.44620870C>G Copied from the Exome Variant Server CASC4_000017 2/12992 0/8596 2/4396
1 c.392C>T r.(?) p.(Ala131Val) g.44620892C>T Copied from the Exome Variant Server CASC4_000018 1/12992 1/8596 0/4396
1 c.401G>A r.(?) p.(Arg134His) g.44620901G>A Copied from the Exome Variant Server CASC4_000019 1/12992 1/8596 0/4396
1 c.412C>T r.(?) p.(Leu138Phe) g.44620912C>T Copied from the Exome Variant Server CASC4_000020 8/12992 0/8596 8/4396
1 c.430C>T r.(?) p.(Leu144Phe) g.44620930C>T Copied from the Exome Variant Server CASC4_000021 1/12992 1/8596 0/4396
1 c.440A>G r.(?) p.(Tyr147Cys) g.44620940A>G Copied from the Exome Variant Server CASC4_000022 4/12992 1/8596 3/4396
1 c.475G>C r.(?) p.(Glu159Gln) g.44620975G>C Copied from the Exome Variant Server CASC4_000023 10/12992 0/8596 10/4396
1 c.485+17A>G r.(=) p.(=) g.44621002A>G Copied from the Exome Variant Server CASC4_000024 3/12992 3/8596 0/4396
1 c.485+23T>C r.(=) p.(=) g.44621008T>C Copied from the Exome Variant Server CASC4_000025 1/12992 0/8596 1/4396
1 c.532G>T r.(?) p.(Glu178*) g.44624232G>T Copied from the Exome Variant Server CASC4_000026 1/12990 0/8594 1/4396
1 c.576+19C>A r.(=) p.(=) g.44624295C>A Copied from the Exome Variant Server CASC4_000027 1/12730 1/8482 0/4248
1 c.576+28del r.(=) p.(=) g.44624304del Copied from the Exome Variant Server CASC4_000028 35/11792 32/7898 3/3894
1 c.577-36A>T r.(=) p.(=) g.44629925A>T Copied from the Exome Variant Server CASC4_000029 1/12934 1/8566 0/4368
1 c.590A>C r.(?) p.(Lys197Thr) g.44629974A>C Copied from the Exome Variant Server CASC4_000030 1/12982 1/8586 0/4396
1 c.608G>T r.(?) p.(Gly203Val) g.44629992G>T Copied from the Exome Variant Server CASC4_000031 1/12982 0/8586 1/4396
1 c.713A>C r.(?) p.(His238Pro) g.44630097A>C Copied from the Exome Variant Server CASC4_000032 63/12986 0/8590 63/4396
1 c.722-19C>A r.(=) p.(=) g.44630416C>A Copied from the Exome Variant Server CASC4_000033 1/12992 0/8596 1/4396
1 c.722-13G>A r.(=) p.(=) g.44630422G>A Copied from the Exome Variant Server CASC4_000034 1/12992 1/8596 0/4396
1 c.785T>G r.(?) p.(Val262Gly) g.44630498T>G Copied from the Exome Variant Server CASC4_000035 1/12992 1/8596 0/4396
1 c.802+25C>T r.(=) p.(=) g.44630540C>T Copied from the Exome Variant Server CASC4_000036 1/12992 1/8596 0/4396
1 c.802+38G>A r.(=) p.(=) g.44630553G>A Copied from the Exome Variant Server CASC4_000037 2/12992 0/8596 2/4396
1 c.802+52T>C r.(=) p.(=) g.44630567T>C Copied from the Exome Variant Server CASC4_000038 1/7258 1/4614 0/2644
1 c.803-35A>G r.(=) p.(=) g.44671853A>G Copied from the Exome Variant Server CASC4_000039 1/12990 1/8596 0/4394
1 c.803-31G>A r.(=) p.(=) g.44671857G>A Copied from the Exome Variant Server CASC4_000040 80/12992 0/8596 80/4396
1 c.835C>T r.(?) p.(His279Tyr) g.44671920C>T Copied from the Exome Variant Server CASC4_000041 4/12992 0/8596 4/4396
1 c.840A>G r.(=) p.(=) g.44671925A>G Copied from the Exome Variant Server CASC4_000042 1/12992 0/8596 1/4396
1 c.862C>G r.(?) p.(Leu288Val) g.44671947C>G Copied from the Exome Variant Server CASC4_000043 1/12992 1/8596 0/4396
1 c.919A>C r.(?) p.(Asn307His) g.44673021A>C Copied from the Exome Variant Server CASC4_000044 20/12992 0/8596 20/4396
1 c.930C>T r.(=) p.(=) g.44673032C>T Copied from the Exome Variant Server CASC4_000045 93/12992 1/8596 92/4396
1 c.931G>A r.(?) p.(Gly311Ser) g.44673033G>A Copied from the Exome Variant Server CASC4_000046 1/12992 0/8596 1/4396
1 c.950C>T r.(?) p.(Pro317Leu) g.44673052C>T Copied from the Exome Variant Server CASC4_000047 3/12992 3/8596 0/4396
1 c.967C>T r.(?) p.(Arg323Cys) g.44673069C>T Copied from the Exome Variant Server CASC4_000048 1/12992 0/8596 1/4396
1 c.1010A>G r.(?) p.(Gln337Arg) g.44673112A>G Copied from the Exome Variant Server CASC4_000049 9/12992 8/8596 1/4396
1 c.1038G>T r.(?) p.(Lys346Asn) g.44673140G>T Copied from the Exome Variant Server CASC4_000050 59/12992 57/8596 2/4396
1 c.1076G>A r.(?) p.(Arg359Gln) g.44695088G>A Copied from the Exome Variant Server CASC4_000051 1/12992 0/8596 1/4396
1 c.1086T>C r.(=) p.(=) g.44695098T>C Copied from the Exome Variant Server CASC4_000052 1/12992 1/8596 0/4396
1 c.1103T>C r.(?) p.(Val368Ala) g.44695115T>C Copied from the Exome Variant Server CASC4_000053 1/12992 1/8596 0/4396
1 c.1110G>A r.(=) p.(=) g.44695122G>A Copied from the Exome Variant Server CASC4_000054 1/12992 1/8596 0/4396
1 c.1116T>C r.(=) p.(=) g.44695128T>C Copied from the Exome Variant Server CASC4_000055 2/12992 2/8596 0/4396
1 c.1203G>A r.(=) p.(=) g.44695215G>A Copied from the Exome Variant Server CASC4_000056 1/12992 1/8596 0/4396
1 c.1219G>C r.(?) p.(Gly407Arg) g.44695231G>C Copied from the Exome Variant Server CASC4_000057 1/12992 0/8596 1/4396
1 c.1240+48A>G r.(=) p.(=) g.44695300A>G Copied from the Exome Variant Server CASC4_000058 55/12992 1/8596 54/4396
1 c.1241-41T>G r.(=) p.(=) g.44705493T>G Copied from the Exome Variant Server CASC4_000059 1/12984 0/8588 1/4396
1 c.1263A>G r.(=) p.(=) g.44705556A>G Copied from the Exome Variant Server CASC4_000060 1/12990 1/8594 0/4396
1 c.1300G>A r.(?) p.(Asp434Asn) g.44705593G>A Copied from the Exome Variant Server CASC4_000061 1/12990 1/8594 0/4396
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