Unique variants in gene MET

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

74 entries on 1 page. Showing entries 1 - 74.
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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     
./. 1 - c.-14-4G>A r.spl? p.? g.116339121G>A - MET_000051 - - - - Despoina Kalfakakou
./. 1 - c.92C>A r.(?) p.(Ala31Glu) g.116339230C>A - MET_000049 - - - - Despoina Kalfakakou
./. 1 - c.99C>T r.(=) p.(=) g.116339237C>T - MET_000071 - - - - Despoina Kalfakakou
./. 1 - c.100G>A r.(?) p.(Glu34Lys) g.116339238G>A - MET_000019 - - - - Despoina Kalfakakou
./. 1 - c.173A>G r.(?) p.(His58Arg) g.116339311A>G - MET_000029 - - - - Despoina Kalfakakou
./. 1 - c.405C>A r.(?) p.(Ser135Arg) g.116339543C>A - MET_000060 - - - - Despoina Kalfakakou
./. 1 - c.406G>A r.(?) p.(Val136Ile) g.116339544G>A - MET_000074 - - - - Despoina Kalfakakou
./. 1 - c.427C>T r.(?) p.(Arg143*) g.116339565C>T - MET_000048 - - - - Despoina Kalfakakou
./. 1 - c.446A>G r.(?) p.(Asn149Ser) g.116339584A>G - MET_000070 - - - - Despoina Kalfakakou
./. 6 - c.504G>T r.(?) p.(Glu168Asp) g.116339642G>T - MET_000018 rs55985569 - - - Despoina Kalfakakou
./. 1 - c.814C>G r.(?) p.(Gln272Glu) g.116339952C>G - MET_000055 - - - - Despoina Kalfakakou
./. 1 - c.818C>A r.(?) p.(Thr273Asn) g.116339956C>A - MET_000005 - - - - Despoina Kalfakakou
./. 1 - c.843C>T r.(=) p.(=) g.116339981C>T - MET_000052 - - - - Despoina Kalfakakou
./. 3 - c.959C>T r.(?) p.(Ala320Val) g.116340097C>T - MET_000024 rs35776110 - - - Despoina Kalfakakou
./. 1 - c.960G>A r.(=) p.(=) g.116340098G>A - MET_000044 - - - - Despoina Kalfakakou
./. 1 - c.1101C>A r.(=) p.(=) g.116340239C>A - MET_000068 - - - - Despoina Kalfakakou
./. 2 - c.1132G>A r.(?) p.(Val378Ile) g.116340270G>A - MET_000045 - - - - Despoina Kalfakakou
./. 3 - c.1200+46A>C r.(=) p.(=) g.116340384A>C - MET_000008 - - - - Despoina Kalfakakou
./. 2 - c.1201-7A>T r.(=) p.(=) g.116371715A>T - MET_000039 - - - - Despoina Kalfakakou
./. 1 - c.1220C>T r.(?) p.(Ser407Leu) g.116371741C>T - MET_000042 - - - - Despoina Kalfakakou
./. 1 - c.1306G>A r.(?) p.(Glu436Lys) g.116371827G>A - MET_000033 - - - - Despoina Kalfakakou
./. 7 - c.1451A>G r.(?) p.(His484Arg) g.116380062A>G - MET_000020 - - - - Despoina Kalfakakou
./. 1 - c.1484C>T r.(?) p.(Thr495Ile) g.116380095C>T - MET_000061 rs45585831 - - - Despoina Kalfakakou
./. 2 - c.1527+51A>G r.(=) p.(=) g.116380189A>G - MET_000063 - - - - Despoina Kalfakakou
./. 27 - c.1528-39T>A r.(=) p.(=) g.116380867T>A - MET_000002 - - - - Despoina Kalfakakou
./. 27 - c.1528-38A>T r.(=) p.(=) g.116380868A>T - MET_000003 - - - - Despoina Kalfakakou
./. 1 - c.1564C>A r.(?) p.(His522Asn) g.116380942C>A - MET_000009 - - - - Despoina Kalfakakou
./. 1 - c.1578C>A r.(?) p.(Cys526*) g.116380956C>A - MET_000067 - - - - Despoina Kalfakakou
./. 1 - c.1610A>G r.(?) p.(Gln537Arg) g.116380988A>G - MET_000034 - - - - Despoina Kalfakakou
./. 1 - c.1659C>T r.(=) p.(=) g.116381037C>T - MET_000040 - - - - Despoina Kalfakakou
./. 1 - c.1701+18C>T r.(=) p.(=) g.116381097C>T - MET_000059 - - - - Despoina Kalfakakou
./. 2 - c.1701+38T>A r.(=) p.(=) g.116381117T>A - MET_000025 - - - - Despoina Kalfakakou
./. 1 - c.1701+43del r.(=) p.(=) g.116381122del - MET_000057 - - - - Despoina Kalfakakou
./. 1 - c.1701+43dup r.(=) p.(=) g.116381122dup - MET_000056 - - - - Despoina Kalfakakou
./. 1 - c.1863-6T>A r.(=) p.(=) g.116397485T>A - MET_000035 - - - - Despoina Kalfakakou
./. 1 - c.1904A>G r.(?) p.(Asn635Ser) g.116397532A>G - MET_000072 - - - - Despoina Kalfakakou
./. 2 - c.1965+11T>G r.(=) p.(=) g.116397604T>G - MET_000010 - - - - Despoina Kalfakakou
./. 1 - c.1966-45A>G r.(=) p.(=) g.116397647A>G - MET_000065 - - - - Despoina Kalfakakou
./. 2 - c.1966-23T>C r.(=) p.(=) g.116397669T>C - MET_000011 - - - - Despoina Kalfakakou
./. 2 - c.1984A>G r.(?) p.(Ile662Val) g.116397710A>G - MET_000050 - - - - Despoina Kalfakakou
./. 1 - c.2078G>C r.(?) p.(Gly693Ala) g.116397804G>C - MET_000043 - - - - Despoina Kalfakakou
./. 1 - c.2198C>T r.(?) p.(Thr733Ile) g.116398608C>T - MET_000026 - - - - Despoina Kalfakakou
./. 1 - c.2264+41A>G r.(=) p.(=) g.116398715A>G - MET_000069 - - - - Despoina Kalfakakou
./. 1 - c.2265-48C>G r.(=) p.(=) g.116399343C>G - MET_000036 - - - - Despoina Kalfakakou
./. 1 - c.2265-31C>A r.(=) p.(=) g.116399360C>A - MET_000032 - - - - Despoina Kalfakakou
./. 2 - c.2419-21G>C r.(=) p.(=) g.116403083G>C - MET_000027 - - - - Despoina Kalfakakou
./. 2 - c.2419-14G>T r.(=) p.(=) g.116403090G>T - MET_000066 - - - - Despoina Kalfakakou
./. 1 - c.2567A>T r.(?) p.(Asn856Ile) g.116403252A>T - MET_000047 - - - - Despoina Kalfakakou
./. 1 - c.2638-24C>A r.(=) p.(=) g.116409675C>A - MET_000064 - - - - Despoina Kalfakakou
./. 9 - c.2638-8del r.(=) p.(=) g.116409691del - MET_000012 - - - - Despoina Kalfakakou
./. 1 - c.2638-3C>A r.spl? p.? g.116409696C>A - MET_000037 - - - - Despoina Kalfakakou
./. 2 - c.2747A>G r.(?) p.(Asn916Ser) g.116409808A>G - MET_000053 - - - - Despoina Kalfakakou
./. 1 - c.2942-23_2942-20del r.(=) p.(=) g.116411880_116411883del - MET_000004 - - - - Despoina Kalfakakou
./. 1 - c.2947G>A r.(?) p.(Gly983Ser) g.116411908G>A - MET_000013 - - - - Despoina Kalfakakou
./. 8 - c.2962C>T r.(?) p.(Arg988Cys) g.116411923C>T - MET_000014 rs34589476 - - - Despoina Kalfakakou
./. 1 - c.2963G>A r.(?) p.(Arg988His) g.116411924G>A - MET_000030 rs45607832 - - - Despoina Kalfakakou
./. 1 - c.3043T>C r.(?) p.(Ser1015Pro) g.116412004T>C - MET_000073 - - - - Despoina Kalfakakou
./. 1 - c.3083-44G>C r.(=) p.(=) g.116414891G>C - MET_000054 - - - - Despoina Kalfakakou
./. 1 - c.3184A>T r.(?) p.(Ser1062Cys) g.116415036A>T - MET_000015 - - - - Despoina Kalfakakou
./. 1 - c.3290A>G r.(?) p.(His1097Arg) g.116415142A>G - MET_000016 - - - - Despoina Kalfakakou
./. 1 - c.3313+41C>T r.(=) p.(=) g.116415206C>T - MET_000041 - - - - Despoina Kalfakakou
./. 1 - c.3315G>A r.(=) p.(=) g.116417444G>A - MET_000031 - - - - Despoina Kalfakakou
./. 4 - c.3410G>C r.(?) p.(Gly1137Ala) g.116418845G>C - MET_000028 - - - - Despoina Kalfakakou
./. 8 - c.3576+12G>T r.(=) p.(=) g.116419023G>T - MET_000017 - - - - Despoina Kalfakakou
./. 2 - c.3576+15A>G r.(=) p.(=) g.116419026A>G - MET_000038 - - - - Despoina Kalfakakou
./. 14 - c.3577-12C>G r.(=) p.(=) g.116422030C>G - MET_000001 - - - - Despoina Kalfakakou
./. 1 - c.3588A>G r.(=) p.(=) g.116422053A>G - MET_000058 - - - - Despoina Kalfakakou
./. 3 - c.3686+17C>T r.(=) p.(=) g.116422168C>T - MET_000046 - - - - Despoina Kalfakakou
./. 4 - c.3852+5T>C r.spl? p.? g.116423528T>C - MET_000021 - - - - Despoina Kalfakakou
./. 1 - c.3858C>G r.(=) p.(=) g.116435714C>G - MET_000022 - - - - Despoina Kalfakakou
./. 1 - c.3990-18_3990-15del r.(=) p.(=) g.116435923_116435926del - MET_000062 rs72070212 - - - Despoina Kalfakakou
./. 16 - c.4144C>T r.(?) p.(Pro1382Ser) g.116436095C>T - MET_000006 - - - - Despoina Kalfakakou
./. 1 - c.4190T>G r.(?) p.(Val1397Gly) g.116436141T>G - MET_000023 - - - - Despoina Kalfakakou
./. 2 - c.*20C>G r.(=) p.(=) g.116436198C>G - MET_000007 - - - - Despoina Kalfakakou
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