Unique variants in gene PTCH1

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

132 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
./. 1 - c.-346del r.(=) p.(=) g.98279099del - PTCH1_000047 - - - - - - - Despoina Kalfakakou
./. 1 - c.-255C>T r.(=) p.(=) g.98279008G>A - PTCH1_000125 - - - - - - - Despoina Kalfakakou
./. 1 - c.-198_-196del r.(=) p.(=) g.98278949_98278951del - PTCH1_000123 - - - - - - - Despoina Kalfakakou
./. 2 - c.-193G>C r.(=) p.(=) g.98278946C>G - PTCH1_000077 - - - - - - - Despoina Kalfakakou
./. 3 - c.-143G>C r.(=) p.(=) g.98278896C>G - PTCH1_000002 - - - - - - - Despoina Kalfakakou
./. 2 - c.36G>T r.(?) p.(Trp12Cys) g.98268849C>A - PTCH1_000032 - - - - - - - Despoina Kalfakakou
./. 1 - c.196+32del r.(=) p.(=) g.98268657del - PTCH1_000031 - - - - - - - Despoina Kalfakakou
./. 1 - c.197-12C>T r.(=) p.(=) g.98248168G>A - PTCH1_000070 - - - - - - - Despoina Kalfakakou
./. 1 - c.201A>G r.(=) p.(=) g.98248152T>C - PTCH1_000038 - - - - - - - Despoina Kalfakakou
./. 1 - c.253G>T r.(?) p.(Ala85Ser) g.98248100C>A - PTCH1_000131 - - - - - - - Despoina Kalfakakou
./. 1 - c.270A>G r.(=) p.(=) g.98248083T>C - PTCH1_000124 - - - - - - - Despoina Kalfakakou
./. 2 - c.328C>T r.(=) p.(=) g.98248025G>A - PTCH1_000017 rs2066834 - - - - - - Despoina Kalfakakou
./. 2 - c.386+14C>T r.(=) p.(=) g.98247953G>A - PTCH1_000105 - - - - - - - Despoina Kalfakakou
./. 1 - c.386+21C>T r.(=) p.(=) g.98247946G>A - PTCH1_000094 - - - - - - - Despoina Kalfakakou
./. 1 - c.386+46G>A r.(=) p.(=) g.98247921C>T - PTCH1_000059 - - - - - - - Despoina Kalfakakou
./. 1 - c.387-47T>G r.(=) p.(=) g.98244532A>C - PTCH1_000030 - - - - - - - Despoina Kalfakakou
./. 3 - c.387-45C>G r.(=) p.(=) g.98244530G>C - PTCH1_000092 - - - - - - - Despoina Kalfakakou
./. 2 - c.387-38del r.(=) p.(=) g.98244523del - PTCH1_000085 - - - - - - - Despoina Kalfakakou
./. 1 - c.448A>G r.(?) p.(Met150Val) g.98244424T>C - PTCH1_000063 - - - - - - - Despoina Kalfakakou
./. 1 - c.549-21G>A r.(=) p.(=) g.98242891C>T - PTCH1_000073 - - - - - - - Despoina Kalfakakou
./. 1 - c.556C>T r.(?) p.(Pro186Ser) g.98242863G>A - PTCH1_000122 - - - - - - - Despoina Kalfakakou
./. 1 - c.579C>T r.(=) p.(=) g.98242840G>A - PTCH1_000081 - - - - - - - Despoina Kalfakakou
./. 1 - c.603G>A r.(=) p.(=) g.98242816C>T - PTCH1_000091 - - - - - - - Despoina Kalfakakou
./. 1 - c.748-8T>C r.(=) p.(=) g.98242380A>G - PTCH1_000069 - - - - - - - Despoina Kalfakakou
./. 1 - c.841G>C r.(?) p.(Val281Leu) g.98242279C>G - PTCH1_000110 - - - - - - - Despoina Kalfakakou
./. 1 - c.851G>A r.(?) p.(Ser284Asn) g.98242269C>T - PTCH1_000046 - - - - - - - Despoina Kalfakakou
./. 1 - c.869+36G>A r.(=) p.(=) g.98242215C>T - PTCH1_000095 - - - - - - - Despoina Kalfakakou
./. 6 - c.1017+23G>A r.(=) p.(=) g.98241259C>T - PTCH1_000062 rs2066840 - - - - - - Despoina Kalfakakou
./. 3 - c.1017+45A>G r.(=) p.(=) g.98241237T>C - PTCH1_000072 - - - - - - - Despoina Kalfakakou
./. 4 - c.1018-21C>T r.(=) p.(=) g.98240489G>A - PTCH1_000029 - - - - - - - Despoina Kalfakakou
./. 1 - c.1018-6C>A r.(=) p.(=) g.98240474G>T - PTCH1_000098 - - - - - - - Despoina Kalfakakou
./. 3 - c.1108G>A r.(?) p.(Asp370Asn) g.98240378C>T - PTCH1_000089 - - - - - - - Despoina Kalfakakou
./. 1 - c.1149+6G>A r.(=) p.(=) g.98240331C>T - PTCH1_000107 - - - - - - - Despoina Kalfakakou
./. 1 - c.1149+33A>T r.(=) p.(=) g.98240304T>A - PTCH1_000034 - - - - - - - Despoina Kalfakakou
./. 1 - c.1150-47T>C r.(=) p.(=) g.98240031A>G - PTCH1_000097 - - - - - - - Despoina Kalfakakou
./. 1 - c.1153G>A r.(?) p.(Ala385Thr) g.98239981C>T - PTCH1_000028 - - - - - - - Despoina Kalfakakou
./. 1 - c.1306-31C>G r.(=) p.(=) g.98239170G>C - PTCH1_000068 - - - - - - - Despoina Kalfakakou
./. 7 - c.1404+15_1404+17del r.(=) p.(=) g.98239024_98239026del - PTCH1_000027 - - - - - - - Despoina Kalfakakou
./. 1 - c.1404+18G>A r.(=) p.(=) g.98239023C>T - PTCH1_000026 - - - - - - - Despoina Kalfakakou
./. 1 - c.1530+16T>A r.(=) p.(=) g.98238300A>T - PTCH1_000113 - - - - - - - Despoina Kalfakakou
./. 1 - c.1530+38C>T r.(=) p.(=) g.98238278G>A - PTCH1_000090 - - - - - - - Despoina Kalfakakou
./. 1 - c.1531-42G>A r.(=) p.(=) g.98232255C>T - PTCH1_000132 - - - - - - - Despoina Kalfakakou
./. 15 - c.1649+14C>T r.(=) p.(=) g.98232081G>A - PTCH1_000016 - - - - - - - Despoina Kalfakakou
./. 1 - c.1657G>A r.(?) p.(Val553Ile) g.98231428C>T - PTCH1_000025 - - - - - - - Despoina Kalfakakou
./. 1 - c.1697A>G r.(?) p.(Asp566Gly) g.98231388T>C - PTCH1_000024 - - - - - - - Despoina Kalfakakou
./. 2 - c.1712C>T r.(?) p.(Thr571Ile) g.98231373G>A - PTCH1_000055 - - - - - - - Despoina Kalfakakou
./. 12 - c.1806C>T r.(=) p.(=) g.98231279G>A - PTCH1_000045 - - - - - - - Despoina Kalfakakou
./. 1 - c.1876G>A r.(?) p.(Val626Met) g.98231209C>T - PTCH1_000042 - - - - - - - Despoina Kalfakakou
./. 1 - c.1965C>T r.(=) p.(=) g.98231120G>A - PTCH1_000088 - - - - - - - Despoina Kalfakakou
./. 34 - c.1975C>T r.(?) p.(Pro659Ser) g.98231110G>A - PTCH1_000015 - - - - - - - Despoina Kalfakakou
./. 1 - c.2072T>C r.(?) p.(Phe691Ser) g.98229688A>G - PTCH1_000112 - - - - - - - Despoina Kalfakakou
./. 1 - c.2079C>T r.(=) p.(=) g.98229681G>A - PTCH1_000129 - - - - - - - Despoina Kalfakakou
./. 2 - c.2106C>T r.(=) p.(=) g.98229654G>A - PTCH1_000014 rs1805156 - - - - - - Despoina Kalfakakou
./. 1 - c.2117G>A r.(?) p.(Arg706Lys) g.98229643C>T - PTCH1_000103 - - - - - - - Despoina Kalfakakou
./. 1 - c.2136G>A r.(=) p.(=) g.98229624C>T - PTCH1_000067 - - - - - - - Despoina Kalfakakou
./. 3 - c.2178T>C r.(=) p.(=) g.98229582A>G - PTCH1_000013 - - - - - - - Despoina Kalfakakou
./. 1 - c.2239C>G r.(?) p.(Pro747Ala) g.98229521G>C - PTCH1_000130 rs45579032 - - - - - - Despoina Kalfakakou
./. 2 - c.2262C>T r.(=) p.(=) g.98229498G>A - PTCH1_000108 - - - - - - - Despoina Kalfakakou
./. 1 - c.2308G>A r.(?) p.(Glu770Lys) g.98229452C>T - PTCH1_000041 rs78708791 - - - - - - Despoina Kalfakakou
./. 1 - c.2360A>G r.(?) p.(Gln787Arg) g.98229400T>C - PTCH1_000037 - - - - - - - Despoina Kalfakakou
./. 2 - c.2362+8G>A r.(=) p.(=) g.98229390C>T - PTCH1_000074 - - - - - - - Despoina Kalfakakou
./. 1 - c.2362+11G>A r.(=) p.(=) g.98229387C>T - PTCH1_000093 - - - - - - - Despoina Kalfakakou
./. 1 - c.2362+42G>A r.(=) p.(=) g.98229356C>T - PTCH1_000119 - - - - - - - Despoina Kalfakakou
./. 1 - c.2494G>A r.(?) p.(Asp832Asn) g.98224149C>T - PTCH1_000115 - - - - - - - Despoina Kalfakakou
./. 2 - c.2505+27C>T r.(=) p.(=) g.98224111G>A - PTCH1_000049 - - - - - - - Despoina Kalfakakou
./. 1 - c.2505+28G>A r.(=) p.(=) g.98224110C>T - PTCH1_000040 - - - - - - - Despoina Kalfakakou
./. 1 - c.2505+28G>T r.(=) p.(=) g.98224110C>A - PTCH1_000023 - - - - - - - Despoina Kalfakakou
./. 3 - c.2505+43G>T r.(=) p.(=) g.98224095C>A - PTCH1_000012 - - - - - - - Despoina Kalfakakou
./. 2 - c.2506-21C>T r.(=) p.(=) g.98222086G>A - PTCH1_000022 - - - - - - - Despoina Kalfakakou
./. 1 - c.2526G>T r.(=) p.(=) g.98222045C>A - PTCH1_000101 - - - - - - - Despoina Kalfakakou
./. 1 - c.2553C>T r.(=) p.(=) g.98222018G>A - PTCH1_000118 - - - - - - - Despoina Kalfakakou
./. 1 - c.2574G>T r.(=) p.(=) g.98221997C>A - PTCH1_000076 - - - - - - - Despoina Kalfakakou
./. 1 - c.2601G>A r.(=) p.(=) g.98221970C>T - PTCH1_000104 - - - - - - - Despoina Kalfakakou
./. 1 - c.2614C>G r.(?) p.(Gln872Glu) g.98221957G>C - PTCH1_000011 - - - - - - - Despoina Kalfakakou
./. 2 - c.2689+17C>T r.(=) p.(=) g.98221865G>A - PTCH1_000048 - - - - - - - Despoina Kalfakakou
./. 1 - c.2689+28G>T r.(=) p.(=) g.98221854C>A - PTCH1_000100 - - - - - - - Despoina Kalfakakou
./. 4 - c.2690-44C>T r.(=) p.(=) g.98220619G>A - PTCH1_000010 rs45602737 - - - - - - Despoina Kalfakakou
./. 1 - c.2739C>T r.(=) p.(=) g.98220526G>A - PTCH1_000121 rs58629309 - - - - - - Despoina Kalfakakou
./. 1 - c.2764G>A r.(?) p.(Val922Met) g.98220501C>T - PTCH1_000120 - - - - - - - Despoina Kalfakakou
./. 2 - c.2901C>T r.(=) p.(=) g.98220364G>A - PTCH1_000009 - - - - - - - Despoina Kalfakakou
./. 1 - c.2932G>A r.(?) p.(Ala978Thr) g.98220333C>T - PTCH1_000106 - - - - - - - Despoina Kalfakakou
./. 5 - c.2952C>T r.(=) p.(=) g.98220313G>A - PTCH1_000001 - - - - - - - Despoina Kalfakakou
./. 2 - c.2971-5T>C r.spl? p.? g.98218700A>G - PTCH1_000084 - - - - - - - Despoina Kalfakakou
./. 2 - c.2993C>T r.(?) p.(Thr998Met) g.98218673G>A - PTCH1_000071 - - - - - - - Despoina Kalfakakou
./. 1 - c.2997C>T r.(=) p.(=) g.98218669G>A - PTCH1_000061 - - - - - - - Despoina Kalfakakou
./. 1 - c.3049G>A r.(?) p.(Val1017Met) g.98218617C>T - PTCH1_000021 - - - - - - - Despoina Kalfakakou
./. 2 - c.3108+28_3108+29del r.(=) p.(=) g.98218529_98218530del - PTCH1_000080 - - - - - - - Despoina Kalfakakou
./. 1 - c.3129C>T r.(=) p.(=) g.98215882G>A - PTCH1_000083 - - - - - - - Despoina Kalfakakou
./. 1 - c.3130G>A r.(?) p.(Asp1044Asn) g.98215881C>T - PTCH1_000053 - - - - - - - Despoina Kalfakakou
./. 1 - c.3139C>T r.(?) p.(Arg1047Cys) g.98215872G>A - PTCH1_000079 - - - - - - - Despoina Kalfakakou
./. 1 - c.3192C>T r.(=) p.(=) g.98215819G>A - PTCH1_000128 - - - - - - - Despoina Kalfakakou
./. 3 - c.3237C>T r.(=) p.(=) g.98215774G>A - PTCH1_000099 - - - - - - - Despoina Kalfakakou
./. 1 - c.3252-16C>G r.(=) p.(=) g.98212238G>C - PTCH1_000102 - - - - - - - Despoina Kalfakakou
./. 3 - c.3289G>A r.(?) p.(Gly1097Ser) g.98212185C>T - PTCH1_000078 - - - - - - - Despoina Kalfakakou
./. 1 - c.3351+15G>A r.(=) p.(=) g.98212108C>T - PTCH1_000066 - - - - - - - Despoina Kalfakakou
./. 2 - c.3351+30G>A r.(=) p.(=) g.98212093C>T - PTCH1_000116 - - - - - - - Despoina Kalfakakou
./. 2 - c.3354G>A r.(=) p.(=) g.98211603C>T - PTCH1_000096 - - - - - - - Despoina Kalfakakou
./. 1 - c.3358C>T r.(?) p.(Pro1120Ser) g.98211599G>A - PTCH1_000075 - - - - - - - Despoina Kalfakakou
./. 1 - c.3408C>T r.(=) p.(=) g.98211549G>A - PTCH1_000052 - - - - - - - Despoina Kalfakakou
./. 1 - c.3409A>C r.(?) p.(Ser1137Arg) g.98211548T>G - PTCH1_000065 - - - - - - - Despoina Kalfakakou
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