All transcript variants in gene ATM

Information The variants shown are described using the NM_000051.3 transcript reference sequence.

688 entries on 7 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »

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.-30-13_-30-12insT r.spl? p.? g.108098309_108098310insT - ATM_000082 - - - - Despoina Kalfakakou
./. - c.51T>C r.(=) p.(=) g.108098402T>C - ATM_000151 - - - - Despoina Kalfakakou
./. - c.115A>G r.(?) p.(Thr39Ala) g.108098545A>G - ATM_000175 - - - - Despoina Kalfakakou
./. - c.162T>C r.(=) p.(=) g.108098592T>C - ATM_000018 rs3218690 - - - Despoina Kalfakakou
./. - c.162T>C r.(=) p.(=) g.108098592T>C - ATM_000018 rs3218690 - - - Despoina Kalfakakou
./. - c.162T>C r.(=) p.(=) g.108098592T>C - ATM_000018 rs3218690 - - - Despoina Kalfakakou
./. - c.162T>C r.(=) p.(=) g.108098592T>C - ATM_000018 rs3218690 - - - Despoina Kalfakakou
./. - c.162T>C r.(=) p.(=) g.108098592T>C - ATM_000018 rs3218690 - - - Despoina Kalfakakou
./. - c.162T>C r.(=) p.(=) g.108098592T>C - ATM_000018 rs3218690 - - - Despoina Kalfakakou
./. - c.162T>C r.(=) p.(=) g.108098592T>C - ATM_000018 rs3218690 - - - Despoina Kalfakakou
./. - c.162T>C r.(=) p.(=) g.108098592T>C - ATM_000018 rs3218690 - - - Despoina Kalfakakou
./. - c.162T>C r.(=) p.(=) g.108098592T>C - ATM_000018 rs3218690 - - - Despoina Kalfakakou
./. - c.162T>C r.(=) p.(=) g.108098592T>C - ATM_000018 rs3218690 - - - Despoina Kalfakakou
./. - c.162T>C r.(=) p.(=) g.108098592T>C - ATM_000018 rs3218690 - - - Despoina Kalfakakou
./. - c.162T>C r.(=) p.(=) g.108098592T>C - ATM_000018 rs3218690 - - - Despoina Kalfakakou
./. - c.162T>C r.(=) p.(=) g.108098592T>C - ATM_000018 rs3218690 - - - Despoina Kalfakakou
./. - c.162T>C r.(=) p.(=) g.108098592T>C - ATM_000018 rs3218690 - - - Despoina Kalfakakou
./. - c.162T>C r.(=) p.(=) g.108098592T>C - ATM_000018 rs3218690 - - - Despoina Kalfakakou
./. - c.162T>C r.(=) p.(=) g.108098592T>C - ATM_000018 rs3218690 - - - Despoina Kalfakakou
./. - c.162T>C r.(=) p.(=) g.108098592T>C - ATM_000018 rs3218690 - - - Despoina Kalfakakou
./. - c.184A>G r.(?) p.(Arg62Gly) g.108098614A>G - ATM_000019 - - - - Despoina Kalfakakou
./. - c.185+29_185+32del r.(=) p.(=) g.108098644_108098647del - ATM_000218 - - - - Despoina Kalfakakou
./. - c.309C>T r.(=) p.(=) g.108100028C>T - ATM_000173 - - - - Despoina Kalfakakou
./. - c.320G>A r.(?) p.(Cys107Tyr) g.108100039G>A - ATM_000114 - - - - Despoina Kalfakakou
./. - c.320G>A r.(?) p.(Cys107Tyr) g.108100039G>A - ATM_000114 - - - - Despoina Kalfakakou
./. - c.331+48C>T r.(=) p.(=) g.108100098C>T - ATM_000074 rs56324032 - - - Despoina Kalfakakou
./. - c.331+48C>T r.(=) p.(=) g.108100098C>T - ATM_000074 rs56324032 - - - Despoina Kalfakakou
./. - c.331+48C>T r.(=) p.(=) g.108100098C>T - ATM_000074 rs56324032 - - - Despoina Kalfakakou
./. - c.331+48C>T r.(=) p.(=) g.108100098C>T - ATM_000074 rs56324032 - - - Despoina Kalfakakou
./. - c.331+48C>T r.(=) p.(=) g.108100098C>T - ATM_000074 rs56324032 - - - Despoina Kalfakakou
./. - c.331+48C>T r.(=) p.(=) g.108100098C>T - ATM_000074 rs56324032 - - - Despoina Kalfakakou
./. - c.331+51G>A r.(=) p.(=) g.108100101G>A - ATM_000124 - - - - Despoina Kalfakakou
./. - c.334G>A r.(?) p.(Ala112Thr) g.108106399G>A - ATM_000111 - - - - Despoina Kalfakakou
./. - c.334G>A r.(?) p.(Ala112Thr) g.108106399G>A - ATM_000111 - - - - Despoina Kalfakakou
./. - c.370A>G r.(?) p.(Ile124Val) g.108106435A>G - ATM_000052 - - - - Despoina Kalfakakou
./. - c.370A>G r.(?) p.(Ile124Val) g.108106435A>G - ATM_000052 - - - - Despoina Kalfakakou
./. - c.473del r.(?) p.(Ile159Tyrfs*7) g.108106538del - ATM_000158 - - - - Despoina Kalfakakou
./. - c.477A>G r.(?) p.(Ile159Met) g.108106542A>G - ATM_000177 - - - - Despoina Kalfakakou
./. - c.496+18T>A r.(=) p.(=) g.108106579T>A - ATM_000164 - - - - Despoina Kalfakakou
./. - c.496+18T>C r.(=) p.(=) g.108106579T>C - ATM_000157 - - - - Despoina Kalfakakou
./. - c.496+37C>T r.(=) p.(=) g.108106598C>T - ATM_000189 - - - - Despoina Kalfakakou
./. - c.497-37A>T r.(=) p.(=) g.108114643A>T - ATM_000188 - - - - Despoina Kalfakakou
./. - c.609C>T r.(=) p.(=) g.108114792C>T - ATM_000090 - - - - Despoina Kalfakakou
./. - c.609C>T r.(=) p.(=) g.108114792C>T - ATM_000090 - - - - Despoina Kalfakakou
./. - c.609C>T r.(=) p.(=) g.108114792C>T - ATM_000090 - - - - Despoina Kalfakakou
./. - c.662G>A r.(?) p.(Arg221Lys) g.108114845G>A - ATM_000212 - - - - Despoina Kalfakakou
./. - c.663-37C>T r.(=) p.(=) g.108115478C>T - ATM_000112 rs4987919 - - - Despoina Kalfakakou
./. - c.749G>A r.(?) p.(Arg250Gln) g.108115601G>A - ATM_000210 rs56123940 - - - Despoina Kalfakakou
+/+ - c.757G>T r.(?) p.(Glu253*) g.108115609G>T - ATM_000120 - Germline ? - Despoina Kalfakakou
./. - c.757G>T r.(?) p.(Glu253*) g.108115609G>T - ATM_000120 - - - - Despoina Kalfakakou
./. - c.902-26T>C r.(=) p.(=) g.108117665T>C - ATM_000150 - - - - Despoina Kalfakakou
./. - c.903T>G r.(=) p.(=) g.108117692T>G - ATM_000089 - - - - Despoina Kalfakakou
./. - c.903T>G r.(=) p.(=) g.108117692T>G - ATM_000089 - - - - Despoina Kalfakakou
./. - c.943T>G r.(?) p.(Leu315Val) g.108117732T>G - ATM_000227 - - - - Despoina Kalfakakou
./. - c.978A>G r.(?) p.(Ile326Met) g.108117767A>G - ATM_000088 - - - - Despoina Kalfakakou
./. - c.998C>T r.(?) p.(Ser333Phe) g.108117787C>T - ATM_000113 rs28904919 - - - Despoina Kalfakakou
./. - c.998C>T r.(?) p.(Ser333Phe) g.108117787C>T - ATM_000113 rs28904919 - - - Despoina Kalfakakou
./. - c.998C>T r.(?) p.(Ser333Phe) g.108117787C>T - ATM_000113 rs28904919 - - - Despoina Kalfakakou
./. - c.1009C>T r.(?) p.(Arg337Cys) g.108117798C>T - ATM_000230 - - - - Despoina Kalfakakou
./. - c.1010G>A r.(?) p.(Arg337His) g.108117799G>A - ATM_000134 - - - - Despoina Kalfakakou
./. - c.1010G>A r.(?) p.(Arg337His) g.108117799G>A - ATM_000134 - - - - Despoina Kalfakakou
./. - c.1010G>A r.(?) p.(Arg337His) g.108117799G>A - ATM_000134 - - - - Despoina Kalfakakou
./. - c.1066-30G>A r.(=) p.(=) g.108119630G>A - ATM_000130 - - - - Despoina Kalfakakou
./. - c.1066-6T>G r.(=) p.(=) g.108119654T>G - ATM_000193 - - - - Despoina Kalfakakou
./. - c.1110C>T r.(=) p.(=) g.108119704C>T - ATM_000204 - - - - Despoina Kalfakakou
./. - c.1215del r.(?) p.(Asn405Lysfs*15) g.108119809del - ATM_000053 - - - - Despoina Kalfakakou
./. - c.1215del r.(?) p.(Asn405Lysfs*15) g.108119809del - ATM_000053 - - - - Despoina Kalfakakou
./. - c.1215del r.(?) p.(Asn405Lysfs*15) g.108119809del - ATM_000053 - - - - Despoina Kalfakakou
./. - c.1215del r.(?) p.(Asn405Lysfs*15) g.108119809del - ATM_000053 - - - - Despoina Kalfakakou
+/+ - c.1215delT r.(?) p.(Asn405Lysfs*15) g.108119809delT - ATM_000237 - Germline ? No Despoina Kalfakakou
./. - c.1229T>C r.(?) p.(Val410Ala) g.108119823T>C - ATM_000020 rs56128736 - - - Despoina Kalfakakou
./. - c.1229T>C r.(?) p.(Val410Ala) g.108119823T>C - ATM_000020 rs56128736 - - - Despoina Kalfakakou
./. - c.1229T>C r.(?) p.(Val410Ala) g.108119823T>C - ATM_000020 rs56128736 - - - Despoina Kalfakakou
./. - c.1229T>C r.(?) p.(Val410Ala) g.108119823T>C - ATM_000020 rs56128736 - - - Despoina Kalfakakou
./. - c.1229T>C r.(?) p.(Val410Ala) g.108119823T>C - ATM_000020 rs56128736 - - - Despoina Kalfakakou
./. - c.1236-17_1236-16del r.spl? p.? g.108121411_108121412del - ATM_000054 - - - - Despoina Kalfakakou
./. - c.1236-17_1236-16del r.spl? p.? g.108121411_108121412del - ATM_000054 - - - - Despoina Kalfakakou
./. - c.1236-17_1236-16del r.spl? p.? g.108121411_108121412del - ATM_000054 - - - - Despoina Kalfakakou
./. - c.1236-17_1236-16del r.spl? p.? g.108121411_108121412del - ATM_000054 - - - - Despoina Kalfakakou
./. - c.1236-17_1236-16del r.spl? p.? g.108121411_108121412del - ATM_000054 - - - - Despoina Kalfakakou
./. - c.1236-17_1236-16del r.spl? p.? g.108121411_108121412del - ATM_000054 - - - - Despoina Kalfakakou
./. - c.1236-17_1236-16del r.spl? p.? g.108121411_108121412del - ATM_000054 - - - - Despoina Kalfakakou
./. - c.1236-17_1236-16del r.spl? p.? g.108121411_108121412del - ATM_000054 - - - - Despoina Kalfakakou
./. - c.1236-17_1236-16del r.spl? p.? g.108121411_108121412del - ATM_000054 - - - - Despoina Kalfakakou
./. - c.1236-17_1236-16del r.spl? p.? g.108121411_108121412del - ATM_000054 - - - - Despoina Kalfakakou
./. - c.1236-17_1236-16del r.spl? p.? g.108121411_108121412del - ATM_000054 - - - - Despoina Kalfakakou
./. - c.1236-17_1236-16del r.spl? p.? g.108121411_108121412del - ATM_000054 - - - - Despoina Kalfakakou
./. - c.1236-17_1236-16del r.spl? p.? g.108121411_108121412del - ATM_000054 - - - - Despoina Kalfakakou
./. - c.1236-17_1236-16del r.spl? p.? g.108121411_108121412del - ATM_000054 - - - - Despoina Kalfakakou
./. - c.1236-16dup r.spl? p.? g.108121412dup - ATM_000055 - - - - Despoina Kalfakakou
./. - c.1236-16dup r.spl? p.? g.108121412dup - ATM_000055 - - - - Despoina Kalfakakou
./. - c.1236-16dup r.spl? p.? g.108121412dup - ATM_000055 - - - - Despoina Kalfakakou
./. - c.1236-16dup r.spl? p.? g.108121412dup - ATM_000055 - - - - Despoina Kalfakakou
./. - c.1236-16dup r.spl? p.? g.108121412dup - ATM_000055 - - - - Despoina Kalfakakou
./. - c.1236-16dup r.spl? p.? g.108121412dup - ATM_000055 - - - - Despoina Kalfakakou
./. - c.1236-16dup r.spl? p.? g.108121412dup - ATM_000055 - - - - Despoina Kalfakakou
./. - c.1236-16dup r.spl? p.? g.108121412dup - ATM_000055 - - - - Despoina Kalfakakou
./. - c.1236-16dup r.spl? p.? g.108121412dup - ATM_000055 - - - - Despoina Kalfakakou
./. - c.1236-16dup r.spl? p.? g.108121412dup - ATM_000055 - - - - Despoina Kalfakakou
./. - c.1236-16dup r.spl? p.? g.108121412dup - ATM_000055 - - - - Despoina Kalfakakou
Legend   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »