Unique variants in gene KIT

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

71 entries on 1 page. Showing entries 1 - 71.
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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.-21G>T r.(=) p.(=) g.55524161G>T - KIT_000038 - - - - Despoina Kalfakakou
./. 11 - c.-14T>A r.(=) p.(=) g.55524168T>A - KIT_000001 - - - - Despoina Kalfakakou
./. 12 - c.67+32C>T r.(=) p.(=) g.55524280C>T - KIT_000027 - - - - Despoina Kalfakakou
./. 1 - c.84T>C r.(=) p.(=) g.55561694T>C - KIT_000028 - - - - Despoina Kalfakakou
./. 1 - c.101C>T r.(?) p.(Pro34Leu) g.55561711C>T - KIT_000026 rs55755457 - - - Despoina Kalfakakou
./. 1 - c.123A>T r.(=) p.(=) g.55561733A>T - KIT_000025 rs72549300 - - - Despoina Kalfakakou
./. 2 - c.146G>A r.(?) p.(Arg49His) g.55561756G>A - KIT_000058 - - - - Despoina Kalfakakou
./. 1 - c.147C>T r.(=) p.(=) g.55561757C>T - KIT_000018 rs72549301 - - - Despoina Kalfakakou
./. 1 - c.148G>T r.(?) p.(Val50Leu) g.55561758G>T - KIT_000041 - - - - Despoina Kalfakakou
./. 5 - c.200C>G r.(?) p.(Thr67Ser) g.55561810C>G - KIT_000019 - - - - Despoina Kalfakakou
./. 2 - c.297C>T r.(=) p.(=) g.55561907C>T - KIT_000035 - - - - Despoina Kalfakakou
./. 1 - c.337+27G>A r.(=) p.(=) g.55561974G>A - KIT_000068 - - - - Despoina Kalfakakou
./. 1 - c.338-28A>G r.(=) p.(=) g.55564422A>G - KIT_000049 - - - - Despoina Kalfakakou
./. 1 - c.756+18_756+20del r.(=) p.(=) g.55565950_55565952del - KIT_000064 - - - - Despoina Kalfakakou
./. 4 - c.757-9A>G r.(=) p.(=) g.55569881A>G - KIT_000047 - - - - Despoina Kalfakakou
./. 2 - c.821C>T r.(?) p.(Thr274Met) g.55569954C>T - KIT_000042 - - - - Despoina Kalfakakou
./. 1 - c.822G>A r.(=) p.(=) g.55569955G>A - KIT_000020 - - - - Despoina Kalfakakou
./. 1 - c.910A>G r.(?) p.(Thr304Ala) g.55570043A>G - KIT_000021 - - - - Despoina Kalfakakou
./. 1 - c.925+37G>A r.(=) p.(=) g.55570095G>A - KIT_000022 - - - - Despoina Kalfakakou
./. 1 - c.978C>T r.(=) p.(=) g.55573316C>T - KIT_000048 - - - - Despoina Kalfakakou
./. 1 - c.1089C>T r.(=) p.(=) g.55573427C>T - KIT_000063 - - - - Despoina Kalfakakou
./. 1 - c.1115+31C>T r.(=) p.(=) g.55573484C>T - KIT_000037 - - - - Despoina Kalfakakou
./. 19 - c.1115+41C>A r.(=) p.(=) g.55573494C>A - KIT_000002 - - - - Despoina Kalfakakou
./. 1 - c.1187A>G r.(?) p.(Asn396Ser) g.55575661A>G - KIT_000029 - - - - Despoina Kalfakakou
./. 1 - c.1195G>A r.(?) p.(Val399Ile) g.55575669G>A - KIT_000065 - - - - Despoina Kalfakakou
./. 1 - c.1199A>G r.(?) p.(Asn400Ser) g.55575673A>G - KIT_000003 rs72549294 - - - Despoina Kalfakakou
./. 2 - c.1281A>T r.(?) p.(Gln427His) g.55589799A>T - KIT_000044 - - - - Despoina Kalfakakou
./. 1 - c.1347-16G>A r.(=) p.(=) g.55592007G>A - KIT_000057 - - - - Despoina Kalfakakou
./. 1 - c.1347-7C>A r.(=) p.(=) g.55592016C>A - KIT_000036 - - - - Despoina Kalfakakou
./. 20 - c.1383A>G r.(=) p.(=) g.55592059A>G - KIT_000023 - - - - Despoina Kalfakakou
./. 1 - c.1497G>A r.(=) p.(=) g.55592173G>A - KIT_000004 - - - - Despoina Kalfakakou
./. 1 - c.1594G>A r.(?) p.(Val532Ile) g.55593437G>A - KIT_000024 rs55792975 - - - Despoina Kalfakakou
./. 9 - c.1648-44A>G r.(=) p.(=) g.55593538A>G - KIT_000030 - - - - Despoina Kalfakakou
./. 10 - c.1688T>A r.(?) p.(Ile563Lys) g.55593622T>A - KIT_000016 - - - - Despoina Kalfakakou
./. 2 - c.1690A>T r.(?) p.(Asn564Tyr) g.55593624A>T - KIT_000017 - - - - Despoina Kalfakakou
./. 2 - c.1781C>T r.(?) p.(Thr594Ile) g.55593995C>T - KIT_000015 - - - - Despoina Kalfakakou
./. 1 - c.1789G>A r.(?) p.(Ala597Thr) g.55594003G>A - KIT_000059 - - - - Despoina Kalfakakou
./. 1 - c.1848G>A r.(=) p.(=) g.55594062G>A - KIT_000066 - - - - Despoina Kalfakakou
./. 1 - c.1990+12T>C r.(=) p.(=) g.55594299T>C - KIT_000070 - - - - Despoina Kalfakakou
./. 1 - c.1990+32C>A r.(=) p.(=) g.55594319C>A - KIT_000062 - - - - Despoina Kalfakakou
./. 1 - c.1996A>C r.(?) p.(Thr666Pro) g.55595506A>C - KIT_000053 - - - - Despoina Kalfakakou
./. 1 - c.2138C>A r.(?) p.(Ser713Tyr) g.55595648C>A - KIT_000046 - - - - Despoina Kalfakakou
./. 1 - c.2141+21_2141+24del r.(=) p.(=) g.55595672_55595675del - KIT_000039 - - - - Despoina Kalfakakou
./. 1 - c.2141+48G>T r.(=) p.(=) g.55595699G>T - KIT_000060 - - - - Despoina Kalfakakou
./. 1 - c.2142-47C>G r.(=) p.(=) g.55597447C>G - KIT_000054 - - - - Despoina Kalfakakou
./. 1 - c.2198C>T r.(?) p.(Pro733Leu) g.55597550C>T - KIT_000071 - - - - Despoina Kalfakakou
./. 16 - c.2234-50C>T r.(=) p.(=) g.55597987C>T - KIT_000009 rs72549295 - - - Despoina Kalfakakou
./. 1 - c.2234-28G>A r.(=) p.(=) g.55598009G>A - KIT_000010 - - - - Despoina Kalfakakou
./. 1 - c.2237C>T r.(?) p.(Ser746Leu) g.55598040C>T - KIT_000032 - - - - Despoina Kalfakakou
./. 1 - c.2259T>C r.(=) p.(=) g.55598062T>C - KIT_000031 - - - - Despoina Kalfakakou
./. 1 - c.2270T>C r.(?) p.(Met757Thr) g.55598073T>C - KIT_000069 - - - - Despoina Kalfakakou
./. 1 - c.2281G>A r.(?) p.(Glu761Lys) g.55598084G>A - KIT_000051 - - - - Despoina Kalfakakou
./. 2 - c.2349C>T r.(=) p.(=) g.55598152C>T - KIT_000005 - - - - Despoina Kalfakakou
./. 1 - c.2361+34T>C r.(=) p.(=) g.55598198T>C - KIT_000045 - - - - Despoina Kalfakakou
./. 17 - c.2361+48del r.(=) p.(=) g.55598212del - KIT_000007 - - - - Despoina Kalfakakou
./. 16 - c.2361+48dup r.(=) p.(=) g.55598212dup - KIT_000006 - - - - Despoina Kalfakakou
./. 1 - c.2361+48_2361+49insTT r.(=) p.(=) g.55598212_55598213insTT - KIT_000040 - - - - Despoina Kalfakakou
./. 1 - c.2362-43A>C r.(=) p.(=) g.55599193A>C - KIT_000050 - - - - Despoina Kalfakakou
./. 1 - c.2424T>C r.(=) p.(=) g.55599298T>C - KIT_000034 - - - - Despoina Kalfakakou
./. 1 - c.2484C>T r.(=) p.(=) g.55599358C>T - KIT_000055 - - - - Despoina Kalfakakou
./. 5 - c.2597-51T>C r.(=) p.(=) g.55602836T>C - KIT_000043 - - - - Despoina Kalfakakou
./. 8 - c.2622G>A r.(=) p.(=) g.55602912G>A - KIT_000008 rs55817813 - - - Despoina Kalfakakou
./. 1 - c.2696+51C>A r.(=) p.(=) g.55603037C>A - KIT_000011 - - - - Despoina Kalfakakou
./. 1 - c.2696+52T>C r.(=) p.(=) g.55603038T>C - KIT_000052 - - - - Despoina Kalfakakou
./. 1 - c.2697-45G>T r.(=) p.(=) g.55603296G>T - KIT_000061 - - - - Despoina Kalfakakou
./. 1 - c.2724T>A r.(?) p.(Asp908Glu) g.55603368T>A - KIT_000033 - - - - Despoina Kalfakakou
./. 1 - c.2802+9A>G r.(=) p.(=) g.55603455A>G - KIT_000067 - - - - Despoina Kalfakakou
./. 2 - c.2803-44C>T r.(=) p.(=) g.55604551C>T - KIT_000012 - - - - Despoina Kalfakakou
./. 33 - c.2805T>A r.(=) p.(=) g.55604597T>A - KIT_000013 rs72549296 - - - Despoina Kalfakakou
./. 2 - c.2886C>T r.(=) p.(=) g.55604678C>T - KIT_000014 - - - - Despoina Kalfakakou
./. 1 - c.2887A>G r.(?) p.(Thr963Ala) g.55604679A>G - KIT_000056 - - - - Despoina Kalfakakou
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