All transcript variants in gene NF1

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

1499 entries on 15 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. - c.-22G>C r.(=) p.(=) g.29422306G>C - NF1_000020 - - - - Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) g.29422306G>C - NF1_000020 - - - - Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) g.29422306G>C - NF1_000020 - - - - Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) g.29422306G>C - NF1_000020 - - - - Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) g.29422306G>C - NF1_000020 - - - - Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) g.29422306G>C - NF1_000020 - - - - Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) g.29422306G>C - NF1_000020 - - - - Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) g.29422306G>C - NF1_000020 - - - - Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) g.29422306G>C - NF1_000020 - - - - Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) g.29422306G>C - NF1_000020 - - - - Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) g.29422306G>C - NF1_000020 - - - - Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) g.29422306G>C - NF1_000020 - - - - Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) g.29422306G>C - NF1_000020 - - - - Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) g.29422306G>C - NF1_000020 - - - - Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) g.29422306G>C - NF1_000020 - - - - Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) g.29422306G>C - NF1_000020 - - - - Despoina Kalfakakou
./. - c.60+15G>A r.(=) p.(=) g.29422402G>A - NF1_000129 - - - - Despoina Kalfakakou
./. - c.60+15G>A r.(=) p.(=) g.29422402G>A - NF1_000129 - - - - Despoina Kalfakakou
./. - c.60+15G>A r.(=) p.(=) g.29422402G>A - NF1_000129 - - - - Despoina Kalfakakou
./. - c.60+49del r.(=) p.(=) g.29422436del - NF1_000162 - - - - Despoina Kalfakakou
./. - c.60+49del r.(=) p.(=) g.29422436del - NF1_000162 - - - - Despoina Kalfakakou
./. - c.61-17T>C r.(=) p.(=) g.29482984T>C - NF1_000276 - - - - Despoina Kalfakakou
./. - c.134A>G r.(?) p.(Asn45Ser) g.29483074A>G - NF1_000215 - - - - Despoina Kalfakakou
./. - c.157T>C r.(=) p.(=) g.29483097T>C - NF1_000286 - - - - Despoina Kalfakakou
./. - c.204G>A r.(?) p.(Met68Ile) g.29483144G>A - NF1_000153 - - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. - c.235T>C r.(=) p.(=) g.29486058T>C - NF1_000289 - - - - Despoina Kalfakakou
./. - c.235T>C r.(=) p.(=) g.29486058T>C - NF1_000289 - - - - Despoina Kalfakakou
./. - c.288+28G>A r.(=) p.(=) g.29486139G>A - NF1_000190 - - - - Despoina Kalfakakou
./. - c.288+28G>A r.(=) p.(=) g.29486139G>A - NF1_000190 - - - - Despoina Kalfakakou
./. - c.288+42A>G r.(=) p.(=) g.29486153A>G - NF1_000022 - - - - Despoina Kalfakakou
./. - c.289-43G>A r.(=) p.(=) g.29490161G>A - NF1_000212 - - - - Despoina Kalfakakou
./. - c.340C>T r.(=) p.(=) g.29490255C>T - NF1_000198 rs7207410 - - - Despoina Kalfakakou
./. - c.340C>T r.(=) p.(=) g.29490255C>T - NF1_000198 rs7207410 - - - Despoina Kalfakakou
./. - c.381_382del r.(?) p.(Asn128Profs*5) g.29490296_29490297del - NF1_000243 - - - - Despoina Kalfakakou
./. - c.466C>T r.(?) p.(Arg156Cys) g.29490381C>T - NF1_000293 - - - - Despoina Kalfakakou
./. - c.484C>T r.(?) p.(Gln162*) g.29496913C>T - NF1_000260 - - - - Despoina Kalfakakou
./. - c.584A>G r.(?) p.(Lys195Arg) g.29497013A>G - NF1_000191 - - - - Despoina Kalfakakou
./. - c.584A>G r.(?) p.(Lys195Arg) g.29497013A>G - NF1_000191 - - - - Despoina Kalfakakou
./. - c.584A>G r.(?) p.(Lys195Arg) g.29497013A>G - NF1_000191 - - - - Despoina Kalfakakou
./. - c.584A>G r.(?) p.(Lys195Arg) g.29497013A>G - NF1_000191 - - - - Despoina Kalfakakou
./. - c.584A>G r.(?) p.(Lys195Arg) g.29497013A>G - NF1_000191 - - - - Despoina Kalfakakou
./. - c.586+51A>G r.(=) p.(=) g.29497066A>G - NF1_000202 - - - - Despoina Kalfakakou
./. - c.587-20A>T r.(=) p.(=) g.29508420A>T - NF1_000192 - - - - Despoina Kalfakakou
./. - c.587-20A>T r.(=) p.(=) g.29508420A>T - NF1_000192 - - - - Despoina Kalfakakou
./. - c.587-11G>T r.(=) p.(=) g.29508429G>T - NF1_000100 - - - - Despoina Kalfakakou
./. - c.654+15C>T r.(=) p.(=) g.29508522C>T - NF1_000161 - - - - Despoina Kalfakakou
./. - c.654+28A>G r.(=) p.(=) g.29508535A>G - NF1_000213 - - - - Despoina Kalfakakou
./. - c.654+28A>G r.(=) p.(=) g.29508535A>G - NF1_000213 - - - - Despoina Kalfakakou
./. - c.655-37A>C r.(=) p.(=) g.29508691A>C - NF1_000023 - - - - Despoina Kalfakakou
./. - c.655-37A>C r.(=) p.(=) g.29508691A>C - NF1_000023 - - - - Despoina Kalfakakou
./. - c.655-29T>C r.(=) p.(=) g.29508699T>C - NF1_000101 - - - - Despoina Kalfakakou
./. - c.655-29T>C r.(=) p.(=) g.29508699T>C - NF1_000101 - - - - Despoina Kalfakakou
./. - c.655-29T>C r.(=) p.(=) g.29508699T>C - NF1_000101 - - - - Despoina Kalfakakou
./. - c.655-29T>C r.(=) p.(=) g.29508699T>C - NF1_000101 - - - - Despoina Kalfakakou
./. - c.655-29T>C r.(=) p.(=) g.29508699T>C - NF1_000101 - - - - Despoina Kalfakakou
./. - c.655-29T>C r.(=) p.(=) g.29508699T>C - NF1_000101 - - - - Despoina Kalfakakou
./. - c.655-29T>C r.(=) p.(=) g.29508699T>C - NF1_000101 - - - - Despoina Kalfakakou
./. - c.655-23G>T r.(=) p.(=) g.29508705G>T - NF1_000103 - - - - Despoina Kalfakakou
./. - c.696A>G r.(=) p.(=) g.29508769A>G - NF1_000105 - - - - Despoina Kalfakakou
./. - c.696A>G r.(=) p.(=) g.29508769A>G - NF1_000105 - - - - Despoina Kalfakakou
./. - c.730+10C>A r.(=) p.(=) g.29508813C>A - NF1_000106 - - - - Despoina Kalfakakou
./. - c.730+15G>T r.(=) p.(=) g.29508818G>T - NF1_000024 - - - - Despoina Kalfakakou
./. - c.730+15G>T r.(=) p.(=) g.29508818G>T - NF1_000024 - - - - Despoina Kalfakakou
./. - c.730+15G>T r.(=) p.(=) g.29508818G>T - NF1_000024 - - - - Despoina Kalfakakou
./. - c.730+15G>T r.(=) p.(=) g.29508818G>T - NF1_000024 - - - - Despoina Kalfakakou
./. - c.730+15G>T r.(=) p.(=) g.29508818G>T - NF1_000024 - - - - Despoina Kalfakakou
./. - c.730+15G>T r.(=) p.(=) g.29508818G>T - NF1_000024 - - - - Despoina Kalfakakou
./. - c.730+15G>T r.(=) p.(=) g.29508818G>T - NF1_000024 - - - - Despoina Kalfakakou
./. - c.730+15G>T r.(=) p.(=) g.29508818G>T - NF1_000024 - - - - Despoina Kalfakakou
./. - c.730+17del r.(=) p.(=) g.29508820del - NF1_000038 - - - - Despoina Kalfakakou
./. - c.730+17del r.(=) p.(=) g.29508820del - NF1_000038 - - - - Despoina Kalfakakou
./. - c.730+17del r.(=) p.(=) g.29508820del - NF1_000038 - - - - Despoina Kalfakakou
./. - c.730+17del r.(=) p.(=) g.29508820del - NF1_000038 - - - - Despoina Kalfakakou
./. - c.730+17del r.(=) p.(=) g.29508820del - NF1_000038 - - - - Despoina Kalfakakou
./. - c.730+17del r.(=) p.(=) g.29508820del - NF1_000038 - - - - Despoina Kalfakakou
./. - c.730+17del r.(=) p.(=) g.29508820del - NF1_000038 - - - - Despoina Kalfakakou
./. - c.730+17del r.(=) p.(=) g.29508820del - NF1_000038 - - - - Despoina Kalfakakou
./. - c.730+17del r.(=) p.(=) g.29508820del - NF1_000038 - - - - Despoina Kalfakakou
./. - c.730+17del r.(=) p.(=) g.29508820del - NF1_000038 - - - - Despoina Kalfakakou
./. - c.730+17del r.(=) p.(=) g.29508820del - NF1_000038 - - - - Despoina Kalfakakou
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