All transcript variants in gene PTCH1

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

338 entries on 4 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.-346del r.(=) p.(=) g.98279099del - PTCH1_000047 - - - - Despoina Kalfakakou
./. - c.-255C>T r.(=) p.(=) g.98279008G>A - PTCH1_000125 - - - - Despoina Kalfakakou
./. - c.-198_-196del r.(=) p.(=) g.98278949_98278951del - PTCH1_000123 - - - - Despoina Kalfakakou
./. - c.-193G>C r.(=) p.(=) g.98278946C>G - PTCH1_000077 - - - - Despoina Kalfakakou
./. - c.-193G>C r.(=) p.(=) g.98278946C>G - PTCH1_000077 - - - - Despoina Kalfakakou
./. - c.-143G>C r.(=) p.(=) g.98278896C>G - PTCH1_000002 - - - - Despoina Kalfakakou
./. - c.-143G>C r.(=) p.(=) g.98278896C>G - PTCH1_000002 - - - - Despoina Kalfakakou
./. - c.-143G>C r.(=) p.(=) g.98278896C>G - PTCH1_000002 - - - - Despoina Kalfakakou
./. - c.36G>T r.(?) p.(Trp12Cys) g.98268849C>A - PTCH1_000032 - - - - Despoina Kalfakakou
./. - c.36G>T r.(?) p.(Trp12Cys) g.98268849C>A - PTCH1_000032 - - - - Despoina Kalfakakou
./. - c.196+32del r.(=) p.(=) g.98268657del - PTCH1_000031 - - - - Despoina Kalfakakou
./. - c.197-12C>T r.(=) p.(=) g.98248168G>A - PTCH1_000070 - - - - Despoina Kalfakakou
./. - c.201A>G r.(=) p.(=) g.98248152T>C - PTCH1_000038 - - - - Despoina Kalfakakou
./. - c.270A>G r.(=) p.(=) g.98248083T>C - PTCH1_000124 - - - - Despoina Kalfakakou
./. - c.328C>T r.(=) p.(=) g.98248025G>A - PTCH1_000017 rs2066834 - - - Despoina Kalfakakou
./. - c.386+14C>T r.(=) p.(=) g.98247953G>A - PTCH1_000105 - - - - Despoina Kalfakakou
./. - c.386+14C>T r.(=) p.(=) g.98247953G>A - PTCH1_000105 - - - - Despoina Kalfakakou
./. - c.386+21C>T r.(=) p.(=) g.98247946G>A - PTCH1_000094 - - - - Despoina Kalfakakou
./. - c.386+46G>A r.(=) p.(=) g.98247921C>T - PTCH1_000059 - - - - Despoina Kalfakakou
./. - c.387-47T>G r.(=) p.(=) g.98244532A>C - PTCH1_000030 - - - - Despoina Kalfakakou
./. - c.387-45C>G r.(=) p.(=) g.98244530G>C - PTCH1_000092 - - - - Despoina Kalfakakou
./. - c.387-38del r.(=) p.(=) g.98244523del - PTCH1_000085 - - - - Despoina Kalfakakou
./. - c.387-38del r.(=) p.(=) g.98244523del - PTCH1_000085 - - - - Despoina Kalfakakou
./. - c.448A>G r.(?) p.(Met150Val) g.98244424T>C - PTCH1_000063 - - - - Despoina Kalfakakou
./. - c.549-21G>A r.(=) p.(=) g.98242891C>T - PTCH1_000073 - - - - Despoina Kalfakakou
./. - c.556C>T r.(?) p.(Pro186Ser) g.98242863G>A - PTCH1_000122 - - - - Despoina Kalfakakou
./. - c.579C>T r.(=) p.(=) g.98242840G>A - PTCH1_000081 - - - - Despoina Kalfakakou
./. - c.603G>A r.(=) p.(=) g.98242816C>T - PTCH1_000091 - - - - Despoina Kalfakakou
./. - c.748-8T>C r.(=) p.(=) g.98242380A>G - PTCH1_000069 - - - - Despoina Kalfakakou
./. - c.841G>C r.(?) p.(Val281Leu) g.98242279C>G - PTCH1_000110 - - - - Despoina Kalfakakou
./. - c.851G>A r.(?) p.(Ser284Asn) g.98242269C>T - PTCH1_000046 - - - - Despoina Kalfakakou
./. - c.869+36G>A r.(=) p.(=) g.98242215C>T - PTCH1_000095 - - - - Despoina Kalfakakou
./. - c.1017+23G>A r.(=) p.(=) g.98241259C>T - PTCH1_000062 rs2066840 - - - Despoina Kalfakakou
./. - c.1017+23G>A r.(=) p.(=) g.98241259C>T - PTCH1_000062 rs2066840 - - - Despoina Kalfakakou
./. - c.1017+23G>A r.(=) p.(=) g.98241259C>T - PTCH1_000062 rs2066840 - - - Despoina Kalfakakou
./. - c.1017+23G>A r.(=) p.(=) g.98241259C>T - PTCH1_000062 rs2066840 - - - Despoina Kalfakakou
./. - c.1017+23G>A r.(=) p.(=) g.98241259C>T - PTCH1_000062 rs2066840 - - - Despoina Kalfakakou
./. - c.1017+23G>A r.(=) p.(=) g.98241259C>T - PTCH1_000062 rs2066840 - - - Despoina Kalfakakou
./. - c.1017+45A>G r.(=) p.(=) g.98241237T>C - PTCH1_000072 - - - - Despoina Kalfakakou
./. - c.1017+45A>G r.(=) p.(=) g.98241237T>C - PTCH1_000072 - - - - Despoina Kalfakakou
./. - c.1018-21C>T r.(=) p.(=) g.98240489G>A - PTCH1_000029 - - - - Despoina Kalfakakou
./. - c.1018-21C>T r.(=) p.(=) g.98240489G>A - PTCH1_000029 - - - - Despoina Kalfakakou
./. - c.1018-21C>T r.(=) p.(=) g.98240489G>A - PTCH1_000029 - - - - Despoina Kalfakakou
./. - c.1018-21C>T r.(=) p.(=) g.98240489G>A - PTCH1_000029 - - - - Despoina Kalfakakou
./. - c.1018-6C>A r.(=) p.(=) g.98240474G>T - PTCH1_000098 - - - - Despoina Kalfakakou
./. - c.1108G>A r.(?) p.(Asp370Asn) g.98240378C>T - PTCH1_000089 - - - - Despoina Kalfakakou
./. - c.1108G>A r.(?) p.(Asp370Asn) g.98240378C>T - PTCH1_000089 - - - - Despoina Kalfakakou
./. - c.1108G>A r.(?) p.(Asp370Asn) g.98240378C>T - PTCH1_000089 - - - - Despoina Kalfakakou
./. - c.1149+6G>A r.(=) p.(=) g.98240331C>T - PTCH1_000107 - - - - Despoina Kalfakakou
./. - c.1149+33A>T r.(=) p.(=) g.98240304T>A - PTCH1_000034 - - - - Despoina Kalfakakou
./. - c.1150-47T>C r.(=) p.(=) g.98240031A>G - PTCH1_000097 - - - - Despoina Kalfakakou
./. - c.1153G>A r.(?) p.(Ala385Thr) g.98239981C>T - PTCH1_000028 - - - - Despoina Kalfakakou
./. - c.1306-31C>G r.(=) p.(=) g.98239170G>C - PTCH1_000068 - - - - Despoina Kalfakakou
./. - c.1404+15_1404+17del r.(=) p.(=) g.98239024_98239026del - PTCH1_000027 - - - - Despoina Kalfakakou
./. - c.1404+15_1404+17del r.(=) p.(=) g.98239024_98239026del - PTCH1_000027 - - - - Despoina Kalfakakou
./. - c.1404+15_1404+17del r.(=) p.(=) g.98239024_98239026del - PTCH1_000027 - - - - Despoina Kalfakakou
./. - c.1404+15_1404+17del r.(=) p.(=) g.98239024_98239026del - PTCH1_000027 - - - - Despoina Kalfakakou
./. - c.1404+15_1404+17del r.(=) p.(=) g.98239024_98239026del - PTCH1_000027 - - - - Despoina Kalfakakou
./. - c.1404+15_1404+17del r.(=) p.(=) g.98239024_98239026del - PTCH1_000027 - - - - Despoina Kalfakakou
./. - c.1404+18G>A r.(=) p.(=) g.98239023C>T - PTCH1_000026 - - - - Despoina Kalfakakou
./. - c.1530+16T>A r.(=) p.(=) g.98238300A>T - PTCH1_000113 - - - - Despoina Kalfakakou
./. - c.1530+38C>T r.(=) p.(=) g.98238278G>A - PTCH1_000090 - - - - Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) g.98232081G>A - PTCH1_000016 - - - - Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) g.98232081G>A - PTCH1_000016 - - - - Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) g.98232081G>A - PTCH1_000016 - - - - Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) g.98232081G>A - PTCH1_000016 - - - - Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) g.98232081G>A - PTCH1_000016 - - - - Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) g.98232081G>A - PTCH1_000016 - - - - Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) g.98232081G>A - PTCH1_000016 - - - - Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) g.98232081G>A - PTCH1_000016 - - - - Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) g.98232081G>A - PTCH1_000016 - - - - Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) g.98232081G>A - PTCH1_000016 - - - - Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) g.98232081G>A - PTCH1_000016 - - - - Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) g.98232081G>A - PTCH1_000016 - - - - Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) g.98232081G>A - PTCH1_000016 - - - - Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) g.98232081G>A - PTCH1_000016 - - - - Despoina Kalfakakou
./. - c.1649+14C>T r.(=) p.(=) g.98232081G>A - PTCH1_000016 - - - - Despoina Kalfakakou
./. - c.1657G>A r.(?) p.(Val553Ile) g.98231428C>T - PTCH1_000025 - - - - Despoina Kalfakakou
./. - c.1697A>G r.(?) p.(Asp566Gly) g.98231388T>C - PTCH1_000024 - - - - Despoina Kalfakakou
./. - c.1712C>T r.(?) p.(Thr571Ile) g.98231373G>A - PTCH1_000055 - - - - Despoina Kalfakakou
./. - c.1712C>T r.(?) p.(Thr571Ile) g.98231373G>A - PTCH1_000055 - - - - Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) g.98231279G>A - PTCH1_000045 - - - - Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) g.98231279G>A - PTCH1_000045 - - - - Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) g.98231279G>A - PTCH1_000045 - - - - Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) g.98231279G>A - PTCH1_000045 - - - - Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) g.98231279G>A - PTCH1_000045 - - - - Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) g.98231279G>A - PTCH1_000045 - - - - Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) g.98231279G>A - PTCH1_000045 - - - - Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) g.98231279G>A - PTCH1_000045 - - - - Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) g.98231279G>A - PTCH1_000045 - - - - Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) g.98231279G>A - PTCH1_000045 - - - - Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) g.98231279G>A - PTCH1_000045 - - - - Despoina Kalfakakou
./. - c.1806C>T r.(=) p.(=) g.98231279G>A - PTCH1_000045 - - - - Despoina Kalfakakou
./. - c.1876G>A r.(?) p.(Val626Met) g.98231209C>T - PTCH1_000042 - - - - Despoina Kalfakakou
./. - c.1965C>T r.(=) p.(=) g.98231120G>A - PTCH1_000088 - - - - Despoina Kalfakakou
./. - c.1975C>T r.(?) p.(Pro659Ser) g.98231110G>A - PTCH1_000015 - - - - Despoina Kalfakakou
./. - c.1975C>T r.(?) p.(Pro659Ser) g.98231110G>A - PTCH1_000015 - - - - Despoina Kalfakakou
./. - c.1975C>T r.(?) p.(Pro659Ser) g.98231110G>A - PTCH1_000015 - - - - Despoina Kalfakakou
./. - c.1975C>T r.(?) p.(Pro659Ser) g.98231110G>A - PTCH1_000015 - - - - Despoina Kalfakakou
./. - c.1975C>T r.(?) p.(Pro659Ser) g.98231110G>A - PTCH1_000015 - - - - Despoina Kalfakakou
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