Unique variants in gene RET

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

108 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     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 3 - c.-13G>A r.(=) p.(=) g.43572694G>A - RET_000047 - - - - Despoina Kalfakakou
./. 1 - c.20G>A r.(?) p.(Gly7Asp) g.43572726G>A - RET_000035 - - - - Despoina Kalfakakou
./. 1 - c.20G>C r.(?) p.(Gly7Ala) g.43572726G>C - RET_000100 - - - - Despoina Kalfakakou
./. 1 - c.73+30G>A r.(=) p.(=) g.43572809G>A - RET_000060 - - - - Despoina Kalfakakou
./. 1 - c.74-50G>C r.(=) p.(=) g.43595857G>C - RET_000080 - - - - Despoina Kalfakakou
./. 1 - c.79T>C r.(=) p.(=) g.43595912T>C - RET_000078 - - - - Despoina Kalfakakou
./. 4 - c.166C>A r.(?) p.(Leu56Met) g.43595999C>A - RET_000039 - - - - Despoina Kalfakakou
./. 1 - c.200G>A r.(?) p.(Arg67His) g.43596033G>A - RET_000099 - - - - Despoina Kalfakakou
./. 1 - c.220G>A r.(?) p.(Gly74Ser) g.43596053G>A - RET_000038 - - - - Despoina Kalfakakou
./. 3 - c.224C>T r.(?) p.(Thr75Met) g.43596057C>T - RET_000068 - - - - Despoina Kalfakakou
./. 2 - c.304G>A r.(?) p.(Asp102Asn) g.43596137G>A - RET_000036 - - - - Despoina Kalfakakou
./. 3 - c.337+34C>T r.(=) p.(=) g.43596204C>T - RET_000055 - - - - Despoina Kalfakakou
./. 1 - c.337+41A>C r.(=) p.(=) g.43596211A>C - RET_000098 - - - - Despoina Kalfakakou
./. 1 - c.341G>A r.(?) p.(Arg114His) g.43597793G>A - RET_000053 rs76397662 - - - Despoina Kalfakakou
./. 1 - c.452A>G r.(?) p.(Asn151Ser) g.43597904A>G - RET_000064 - - - - Despoina Kalfakakou
./. 1 - c.468C>T r.(=) p.(=) g.43597920C>T - RET_000091 - - - - Despoina Kalfakakou
./. 3 - c.597C>T r.(=) p.(=) g.43598049C>T - RET_000023 rs55810667 - - - Despoina Kalfakakou
./. 9 - c.626-41G>A r.(=) p.(=) g.43600359G>A - RET_000008 - - - - Despoina Kalfakakou
./. 1 - c.626-21C>T r.(=) p.(=) g.43600379C>T - RET_000079 - - - - Despoina Kalfakakou
./. 2 - c.628G>A r.(?) p.(Glu210Lys) g.43600402G>A - RET_000089 - - - - Despoina Kalfakakou
./. 1 - c.731C>T r.(?) p.(Thr244Ile) g.43600505C>T - RET_000083 - - - - Despoina Kalfakakou
./. 9 - c.785T>C r.(?) p.(Val262Ala) g.43600559T>C - RET_000006 - - - - Despoina Kalfakakou
./. 1 - c.834C>T r.(=) p.(=) g.43600608C>T - RET_000107 rs41306550 - - - Despoina Kalfakakou
./. 1 - c.868-9A>G r.(=) p.(=) g.43601815A>G - RET_000086 - - - - Despoina Kalfakakou
./. 1 - c.874G>A r.(?) p.(Val292Met) g.43601830G>A - RET_000095 rs34682185 - - - Despoina Kalfakakou
./. 1 - c.957C>A r.(=) p.(=) g.43601913C>A - RET_000024 - - - - Despoina Kalfakakou
./. 1 - c.961G>A r.(?) p.(Gly321Arg) g.43601917G>A - RET_000050 - - - - Despoina Kalfakakou
./. 2 - c.1013C>T r.(?) p.(Thr338Ile) g.43601969C>T - RET_000034 - - - - Despoina Kalfakakou
./. 1 - c.1017G>A r.(=) p.(=) g.43601973G>A - RET_000096 - - - - Despoina Kalfakakou
./. 1 - c.1050C>T r.(=) p.(=) g.43602006C>T - RET_000075 - - - - Despoina Kalfakakou
./. 1 - c.1051G>A r.(?) p.(Val351Ile) g.43602007G>A - RET_000070 - - - - Despoina Kalfakakou
./. 1 - c.1063+9G>A r.(=) p.(=) g.43602028G>A - RET_000025 - - - - Despoina Kalfakakou
./. 1 - c.1063+37C>T r.(=) p.(=) g.43602056C>T - RET_000094 - - - - Despoina Kalfakakou
./. 9 - c.1063+47G>A r.(=) p.(=) g.43602066G>A - RET_000052 - - - - Despoina Kalfakakou
./. 1 - c.1064-22A>G r.(=) p.(=) g.43604457A>G - RET_000097 - - - - Despoina Kalfakakou
./. 1 - c.1095G>A r.(=) p.(=) g.43604510G>A - RET_000045 - - - - Despoina Kalfakakou
./. 1 - c.1118C>T r.(?) p.(Ala373Val) g.43604533C>T - RET_000026 - - - - Despoina Kalfakakou
./. 3 - c.1158G>A r.(=) p.(=) g.43604573G>A - RET_000027 - - - - Despoina Kalfakakou
./. 2 - c.1258G>A r.(?) p.(Ala420Thr) g.43604673G>A - RET_000065 - - - - Despoina Kalfakakou
./. 1 - c.1263+30_1263+37del r.(=) p.(=) g.43604708_43604715del - RET_000074 - - - - Despoina Kalfakakou
./. 1 - c.1263+47G>C r.(=) p.(=) g.43604725G>C - RET_000108 - - - - Despoina Kalfakakou
./. 1 - c.1264-43C>T r.(=) p.(=) g.43606612C>T - RET_000076 - - - - Despoina Kalfakakou
./. 2 - c.1264-15C>T r.(=) p.(=) g.43606640C>T - RET_000058 - - - - Despoina Kalfakakou
./. 2 - c.1264-4C>T r.spl? p.? g.43606651C>T - RET_000028 - - - - Despoina Kalfakakou
./. 1 - c.1266C>T r.(=) p.(=) g.43606657C>T - RET_000102 - - - - Despoina Kalfakakou
./. 1 - c.1308C>T r.(=) p.(=) g.43606699C>T - RET_000101 - - - - Despoina Kalfakakou
./. 1 - c.1311C>T r.(=) p.(=) g.43606702C>T - RET_000049 - - - - Despoina Kalfakakou
./. 1 - c.1386G>A r.(=) p.(=) g.43606777G>A - RET_000041 - - - - Despoina Kalfakakou
./. 1 - c.1432T>C r.(?) p.(Cys478Arg) g.43606823T>C - RET_000104 - - - - Despoina Kalfakakou
./. 2 - c.1465G>A r.(?) p.(Asp489Asn) g.43606856G>A - RET_000046 rs9282834 - - - Despoina Kalfakakou
./. 1 - c.1530C>T r.(=) p.(=) g.43607554C>T - RET_000088 - - - - Despoina Kalfakakou
./. 1 - c.1573C>G r.(?) p.(Arg525Gly) g.43607597C>G - RET_000062 - - - - Despoina Kalfakakou
./. 1 - c.1574G>A r.(?) p.(Arg525Gln) g.43607598G>A - RET_000042 - - - - Despoina Kalfakakou
./. 1 - c.1597G>T r.(?) p.(Gly533Cys) g.43607621G>T - RET_000073 rs75873440 - - - Despoina Kalfakakou
./. 1 - c.1648+47C>T r.(=) p.(=) g.43607719C>T - RET_000092 - - - - Despoina Kalfakakou
./. 1 - c.1684A>T r.(?) p.(Thr562Ser) g.43608336A>T - RET_000020 - - - - Despoina Kalfakakou
./. 2 - c.1699G>A r.(?) p.(Asp567Asn) g.43608351G>A - RET_000029 - - - - Despoina Kalfakakou
./. 1 - c.1701C>T r.(=) p.(=) g.43608353C>T - RET_000087 - - - - Despoina Kalfakakou
./. 1 - c.1756C>T r.(?) p.(Leu586Phe) g.43608408C>T - RET_000071 - - - - Despoina Kalfakakou
./. 1 - c.1760-13C>T r.(=) p.(=) g.43608991C>T - RET_000061 - - - - Despoina Kalfakakou
./. 2 - c.1782C>T r.(=) p.(=) g.43609026C>T - RET_000007 - - - - Despoina Kalfakakou
./. 7 - c.1879+13C>T r.(=) p.(=) g.43609136C>T - RET_000021 - - - - Despoina Kalfakakou
./. 2 - c.1879+14G>A r.(=) p.(=) g.43609137G>A - RET_000022 - - - - Despoina Kalfakakou
./. 2 - c.1879+17C>T r.(=) p.(=) g.43609140C>T - RET_000016 - - - - Despoina Kalfakakou
./. 6 - c.1890C>T r.(=) p.(=) g.43609938C>T - RET_000001 - - - - Despoina Kalfakakou
./. 1 - c.1914C>G r.(?) p.(Ile638Met) g.43609962C>G - RET_000030 - - - - Despoina Kalfakakou
./. 1 - c.1942G>A r.(?) p.(Val648Ile) g.43609990G>A - RET_000002 rs77711105 - - - Despoina Kalfakakou
./. 2 - c.1946C>T r.(?) p.(Ser649Leu) g.43609994C>T - RET_000037 - - - - Despoina Kalfakakou
./. 3 - c.2052G>A r.(=) p.(=) g.43610100G>A - RET_000048 - - - - Despoina Kalfakakou
./. 1 - c.2081G>A r.(?) p.(Arg694Gln) g.43610129G>A - RET_000031 - - - - Despoina Kalfakakou
./. 2 - c.2136+3G>A r.spl? p.? g.43610187G>A - RET_000059 - - - - Despoina Kalfakakou
./. 1 - c.2137-38T>C r.(=) p.(=) g.43611994T>C - RET_000051 - - - - Despoina Kalfakakou
./. 1 - c.2137-38_2137-37insC r.(=) p.(=) g.43611994_43611995insC - RET_000103 - - - - Despoina Kalfakakou
./. 1 - c.2137-35C>T r.(=) p.(=) g.43611997C>T - RET_000017 - - - - Despoina Kalfakakou
./. 1 - c.2284+46G>C r.(=) p.(=) g.43612225G>C - RET_000043 - - - - Despoina Kalfakakou
./. 1 - c.2285-36G>A r.(=) p.(=) g.43613785G>A - RET_000018 - - - - Despoina Kalfakakou
./. 1 - c.2285-31C>G r.(=) p.(=) g.43613790C>G - RET_000019 - - - - Despoina Kalfakakou
./. 1 - c.2298G>A r.(=) p.(=) g.43613834G>A - RET_000106 - - - - Despoina Kalfakakou
./. 1 - c.2370G>T r.(?) p.(Leu790Phe) g.43613906G>T - RET_000069 rs75030001 - - - Despoina Kalfakakou
./. 15 - c.2372A>T r.(?) p.(Tyr791Phe) g.43613908A>T - RET_000003 rs77724903 - - - Despoina Kalfakakou
./. 1 - c.2392+7C>A r.(=) p.(=) g.43613935C>A - RET_000004 - - - - Despoina Kalfakakou
./. 3 - c.2392+19T>C r.(=) p.(=) g.43613947T>C - RET_000009 - - - - Despoina Kalfakakou
./. 5 - c.2393-29C>T r.(=) p.(=) g.43614950C>T - RET_000010 - - - - Despoina Kalfakakou
./. 1 - c.2393-14C>A r.(=) p.(=) g.43614965C>A - RET_000084 - - - - Despoina Kalfakakou
./. 2 - c.2393-14C>G r.(=) p.(=) g.43614965C>G - RET_000085 - - - - Despoina Kalfakakou
./. 1 - c.2523G>T r.(=) p.(=) g.43615109G>T - RET_000011 rs56195026 - - - Despoina Kalfakakou
./. 1 - c.2527G>A r.(?) p.(Glu843Lys) g.43615113G>A - RET_000012 - - - - Despoina Kalfakakou
./. 1 - c.2538C>T r.(=) p.(=) g.43615124C>T - RET_000072 - - - - Despoina Kalfakakou
./. 2 - c.2556C>G r.(?) p.(Ile852Met) g.43615142C>G - RET_000013 - - - - Despoina Kalfakakou
./. 1 - c.2561T>C r.(?) p.(Phe854Ser) g.43615147T>C - RET_000082 - - - - Despoina Kalfakakou
./. 1 - c.2608-48G>A r.(=) p.(=) g.43615481G>A - RET_000040 - - - - Despoina Kalfakakou
./. 2 - c.2657G>A r.(?) p.(Arg886Gln) g.43615578G>A - RET_000057 - - - - Despoina Kalfakakou
./. 1 - c.2673G>A r.(=) p.(=) g.43615594G>A - RET_000063 - - - - Despoina Kalfakakou
./. 1 - c.2679C>T r.(=) p.(=) g.43615600C>T - RET_000032 - - - - Despoina Kalfakakou
./. 1 - c.2802-40G>A r.(=) p.(=) g.43619079G>A - RET_000054 - - - - Despoina Kalfakakou
./. 3 - c.2802-24C>T r.(=) p.(=) g.43619095C>T - RET_000033 - - - - Despoina Kalfakakou
./. 3 - c.2931C>G r.(?) p.(Ser977Arg) g.43619248C>G - RET_000014 - - - - Despoina Kalfakakou
./. 1 - c.2939+47G>A r.(=) p.(=) g.43619303G>A - RET_000081 - - - - Despoina Kalfakakou
./. 6 - c.2940-45C>T r.(=) p.(=) g.43620286C>T - RET_000044 - - - - Despoina Kalfakakou
./. 1 - c.2945G>A r.(?) p.(Arg982His) g.43620336G>A - RET_000105 - - - - Despoina Kalfakakou
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