All transcript variants in gene KIT

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

251 entries on 3 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.-21G>T r.(=) p.(=) g.55524161G>T - KIT_000038 - - - - Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) g.55524168T>A - KIT_000001 - - - - Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) g.55524168T>A - KIT_000001 - - - - Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) g.55524168T>A - KIT_000001 - - - - Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) g.55524168T>A - KIT_000001 - - - - Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) g.55524168T>A - KIT_000001 - - - - Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) g.55524168T>A - KIT_000001 - - - - Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) g.55524168T>A - KIT_000001 - - - - Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) g.55524168T>A - KIT_000001 - - - - Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) g.55524168T>A - KIT_000001 - - - - Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) g.55524168T>A - KIT_000001 - - - - Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) g.55524168T>A - KIT_000001 - - - - Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) g.55524280C>T - KIT_000027 - - - - Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) g.55524280C>T - KIT_000027 - - - - Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) g.55524280C>T - KIT_000027 - - - - Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) g.55524280C>T - KIT_000027 - - - - Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) g.55524280C>T - KIT_000027 - - - - Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) g.55524280C>T - KIT_000027 - - - - Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) g.55524280C>T - KIT_000027 - - - - Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) g.55524280C>T - KIT_000027 - - - - Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) g.55524280C>T - KIT_000027 - - - - Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) g.55524280C>T - KIT_000027 - - - - Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) g.55524280C>T - KIT_000027 - - - - Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) g.55524280C>T - KIT_000027 - - - - Despoina Kalfakakou
./. - c.84T>C r.(=) p.(=) g.55561694T>C - KIT_000028 - - - - Despoina Kalfakakou
./. - c.101C>T r.(?) p.(Pro34Leu) g.55561711C>T - KIT_000026 rs55755457 - - - Despoina Kalfakakou
./. - c.123A>T r.(=) p.(=) g.55561733A>T - KIT_000025 rs72549300 - - - Despoina Kalfakakou
./. - c.146G>A r.(?) p.(Arg49His) g.55561756G>A - KIT_000058 - - - - Despoina Kalfakakou
./. - c.146G>A r.(?) p.(Arg49His) g.55561756G>A - KIT_000058 - - - - Despoina Kalfakakou
./. - c.147C>T r.(=) p.(=) g.55561757C>T - KIT_000018 rs72549301 - - - Despoina Kalfakakou
./. - c.148G>T r.(?) p.(Val50Leu) g.55561758G>T - KIT_000041 - - - - Despoina Kalfakakou
./. - c.200C>G r.(?) p.(Thr67Ser) g.55561810C>G - KIT_000019 - - - - Despoina Kalfakakou
./. - c.200C>G r.(?) p.(Thr67Ser) g.55561810C>G - KIT_000019 - - - - Despoina Kalfakakou
./. - c.200C>G r.(?) p.(Thr67Ser) g.55561810C>G - KIT_000019 - - - - Despoina Kalfakakou
./. - c.200C>G r.(?) p.(Thr67Ser) g.55561810C>G - KIT_000019 - - - - Despoina Kalfakakou
./. - c.200C>G r.(?) p.(Thr67Ser) g.55561810C>G - KIT_000019 - - - - Despoina Kalfakakou
./. - c.297C>T r.(=) p.(=) g.55561907C>T - KIT_000035 - - - - Despoina Kalfakakou
./. - c.297C>T r.(=) p.(=) g.55561907C>T - KIT_000035 - - - - Despoina Kalfakakou
./. - c.337+27G>A r.(=) p.(=) g.55561974G>A - KIT_000068 - - - - Despoina Kalfakakou
./. - c.338-28A>G r.(=) p.(=) g.55564422A>G - KIT_000049 - - - - Despoina Kalfakakou
./. - c.756+18_756+20del r.(=) p.(=) g.55565950_55565952del - KIT_000064 - - - - Despoina Kalfakakou
./. - c.757-9A>G r.(=) p.(=) g.55569881A>G - KIT_000047 - - - - Despoina Kalfakakou
./. - c.757-9A>G r.(=) p.(=) g.55569881A>G - KIT_000047 - - - - Despoina Kalfakakou
./. - c.757-9A>G r.(=) p.(=) g.55569881A>G - KIT_000047 - - - - Despoina Kalfakakou
./. - c.757-9A>G r.(=) p.(=) g.55569881A>G - KIT_000047 - - - - Despoina Kalfakakou
./. - c.821C>T r.(?) p.(Thr274Met) g.55569954C>T - KIT_000042 - - - - Despoina Kalfakakou
./. - c.821C>T r.(?) p.(Thr274Met) g.55569954C>T - KIT_000042 - - - - Despoina Kalfakakou
./. - c.822G>A r.(=) p.(=) g.55569955G>A - KIT_000020 - - - - Despoina Kalfakakou
./. - c.910A>G r.(?) p.(Thr304Ala) g.55570043A>G - KIT_000021 - - - - Despoina Kalfakakou
./. - c.925+37G>A r.(=) p.(=) g.55570095G>A - KIT_000022 - - - - Despoina Kalfakakou
./. - c.978C>T r.(=) p.(=) g.55573316C>T - KIT_000048 - - - - Despoina Kalfakakou
./. - c.1089C>T r.(=) p.(=) g.55573427C>T - KIT_000063 - - - - Despoina Kalfakakou
./. - c.1115+31C>T r.(=) p.(=) g.55573484C>T - KIT_000037 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. - c.1187A>G r.(?) p.(Asn396Ser) g.55575661A>G - KIT_000029 - - - - Despoina Kalfakakou
./. - c.1195G>A r.(?) p.(Val399Ile) g.55575669G>A - KIT_000065 - - - - Despoina Kalfakakou
./. - c.1199A>G r.(?) p.(Asn400Ser) g.55575673A>G - KIT_000003 rs72549294 - - - Despoina Kalfakakou
./. - c.1281A>T r.(?) p.(Gln427His) g.55589799A>T - KIT_000044 - - - - Despoina Kalfakakou
./. - c.1281A>T r.(?) p.(Gln427His) g.55589799A>T - KIT_000044 - - - - Despoina Kalfakakou
./. - c.1347-16G>A r.(=) p.(=) g.55592007G>A - KIT_000057 - - - - Despoina Kalfakakou
./. - c.1347-7C>A r.(=) p.(=) g.55592016C>A - KIT_000036 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. - c.1497G>A r.(=) p.(=) g.55592173G>A - KIT_000004 - - - - Despoina Kalfakakou
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