Unique variants in gene KIT

Information The variants shown are described using the NM_000222.2 transcript reference sequence.

173 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-28G>A r.(=) p.(=) g.55524154G>A Copied from the Exome Variant Server KIT_000001 3/13006 0/8600 3/4406
1 c.-14T>A r.(=) p.(=) g.55524168T>A Copied from the Exome Variant Server KIT_000002 67/13006 62/8600 5/4406
1 c.-5C>T r.(=) p.(=) g.55524177C>T Copied from the Exome Variant Server KIT_000003 1/13006 1/8600 0/4406
1 c.52C>T r.(?) p.(Leu18Phe) g.55524233C>T Copied from the Exome Variant Server KIT_000004 2/13006 2/8600 0/4406
1 c.67+4G>A r.spl? p.? g.55524252G>A Copied from the Exome Variant Server KIT_000005 167/13006 148/8600 19/4406
1 c.67+9C>T r.(=) p.(=) g.55524257C>T Copied from the Exome Variant Server KIT_000006 1/13006 0/8600 1/4406
1 c.67+12C>T r.(=) p.(=) g.55524260C>T Copied from the Exome Variant Server KIT_000007 3/13006 0/8600 3/4406
1 c.67+32C>T r.(=) p.(=) g.55524280C>T Copied from the Exome Variant Server KIT_000008 5/13002 5/8598 0/4404
1 c.67+56T>C r.(=) p.(=) g.55524304T>C Copied from the Exome Variant Server KIT_000009 2650/4566 1725/3182 925/1384
1 c.68-47G>A r.(=) p.(=) g.55561631G>A Copied from the Exome Variant Server KIT_000010 1/13006 0/8600 1/4406
1 c.68-39A>G r.(=) p.(=) g.55561639A>G Copied from the Exome Variant Server KIT_000011 11/13006 0/8600 11/4406
1 c.68-31A>G r.(=) p.(=) g.55561647A>G Copied from the Exome Variant Server KIT_000012 1/13006 1/8600 0/4406
1 c.68-20G>A r.(=) p.(=) g.55561658G>A Copied from the Exome Variant Server KIT_000013 3/13006 0/8600 3/4406
1 c.119A>G r.(?) p.(His40Arg) g.55561729A>G Copied from the Exome Variant Server KIT_000014 1/13006 1/8600 0/4406
1 c.123A>T r.(=) p.(=) g.55561733A>T Copied from the Exome Variant Server KIT_000015 14/13006 0/8600 14/4406
1 c.146G>A r.(?) p.(Arg49His) g.55561756G>A Copied from the Exome Variant Server KIT_000016 1/13006 0/8600 1/4406
1 c.153C>T r.(=) p.(=) g.55561763C>T Copied from the Exome Variant Server KIT_000017 1/13006 0/8600 1/4406
1 c.199A>T r.(?) p.(Thr67Ser) g.55561809A>T Copied from the Exome Variant Server KIT_000018 1/13006 0/8600 1/4406
1 c.200C>G r.(?) p.(Thr67Ser) g.55561810C>G Copied from the Exome Variant Server KIT_000019 2/13006 2/8600 0/4406
1 c.221C>T r.(?) p.(Thr74Met) g.55561831C>T Copied from the Exome Variant Server KIT_000020 1/13006 0/8600 1/4406
1 c.230A>G r.(?) p.(Asn77Ser) g.55561840A>G Copied from the Exome Variant Server KIT_000021 2/13006 0/8600 2/4406
1 c.252G>T r.(=) p.(=) g.55561862G>T Copied from the Exome Variant Server KIT_000023 278/13006 5/8600 273/4406
1 c.276C>T r.(=) p.(=) g.55561886C>T Copied from the Exome Variant Server KIT_000025 1/13006 1/8600 0/4406
1 c.288G>A r.(=) p.(=) g.55561898G>A Copied from the Exome Variant Server KIT_000027 1/13006 1/8600 0/4406
1 c.303C>T r.(=) p.(=) g.55561913C>T Copied from the Exome Variant Server KIT_000029 1/13006 0/8600 1/4406
1 c.337+16T>C r.(=) p.(=) g.55561963T>C Copied from the Exome Variant Server KIT_000022 1/13006 0/8600 1/4406
1 c.337+19G>A r.(=) p.(=) g.55561966G>A Copied from the Exome Variant Server KIT_000024 1/13006 0/8600 1/4406
1 c.337+26T>C r.(=) p.(=) g.55561973T>C Copied from the Exome Variant Server KIT_000026 1/13006 0/8600 1/4406
1 c.338-45_338-44del r.(=) p.(=) g.55564405_55564406del Copied from the Exome Variant Server KIT_000028 7/12510 0/8248 7/4262
1 c.338-25A>G r.(=) p.(=) g.55564425A>G Copied from the Exome Variant Server KIT_000030 1/13002 1/8598 0/4404
1 c.368C>T r.(?) p.(Ser123Phe) g.55564480C>T Copied from the Exome Variant Server KIT_000031 1/13006 1/8600 0/4406
1 c.396G>A r.(=) p.(=) g.55564508G>A Copied from the Exome Variant Server KIT_000032 1/13006 0/8600 1/4406
1 c.454C>G r.(?) p.(Gln152Glu) g.55564566C>G Copied from the Exome Variant Server KIT_000033 1/13006 1/8600 0/4406
1 c.464C>T r.(?) p.(Pro155Leu) g.55564576C>T Copied from the Exome Variant Server KIT_000034 1/13006 0/8600 1/4406
1 c.503C>T r.(?) p.(Ala168Val) g.55564615C>T Copied from the Exome Variant Server KIT_000035 9/13006 0/8600 9/4406
1 c.504G>A r.(=) p.(=) g.55564616G>A Copied from the Exome Variant Server KIT_000036 6/13006 4/8600 2/4406
1 c.522T>C r.(=) p.(=) g.55564634T>C Copied from the Exome Variant Server KIT_000037 2/13006 0/8600 2/4406
1 c.532G>A r.(?) p.(Ala178Thr) g.55564644G>A Copied from the Exome Variant Server KIT_000038 44/13006 0/8600 44/4406
1 c.591G>A r.(=) p.(=) g.55564703G>A Copied from the Exome Variant Server KIT_000039 6/13006 2/8600 4/4406
1 c.620-26_620-25insG r.(=) p.(=) g.55565770_55565771insG Copied from the Exome Variant Server KIT_000040 2/12520 2/8254 0/4266
1 c.707A>C r.(?) p.(Lys236Thr) g.55565883A>C Copied from the Exome Variant Server KIT_000042 1/13006 1/8600 0/4406
1 c.735G>A r.(=) p.(=) g.55565911G>A Copied from the Exome Variant Server KIT_000044 2/13006 0/8600 2/4406
1 c.756+18_756+20del r.(=) p.(=) g.55565950_55565952del Copied from the Exome Variant Server KIT_000046 1/12520 0/8254 1/4266
1 c.757-42T>C r.(=) p.(=) g.55569848T>C Copied from the Exome Variant Server KIT_000048 2/12856 0/8558 2/4298
1 c.757-31_757-30insT r.(=) p.(=) g.55569859_55569860insT Copied from the Exome Variant Server KIT_000050 46/12440 26/8230 20/4210
1 c.757-9A>G r.(=) p.(=) g.55569881A>G Copied from the Exome Variant Server KIT_000052 1/13002 1/8596 0/4406
1 c.821C>T r.(?) p.(Thr274Met) g.55569954C>T Copied from the Exome Variant Server KIT_000054 5/13006 5/8600 0/4406
1 c.840G>C r.(=) p.(=) g.55569973G>C Copied from the Exome Variant Server KIT_000056 4/13006 4/8600 0/4406
1 c.842G>A r.(?) p.(Arg281Lys) g.55569975G>A Copied from the Exome Variant Server KIT_000058 1/13006 1/8600 0/4406
1 c.878A>G r.(?) p.(Asn293Ser) g.55570011A>G Copied from the Exome Variant Server KIT_000060 6/13006 1/8600 5/4406
1 c.925+9C>T r.(=) p.(=) g.55570067C>T Copied from the Exome Variant Server KIT_000041 4/13006 0/8600 4/4406
1 c.944T>A r.(?) p.(Ile315Asn) g.55573282T>A Copied from the Exome Variant Server KIT_000043 1/13004 0/8598 1/4406
1 c.952A>G r.(?) p.(Met318Val) g.55573290A>G Copied from the Exome Variant Server KIT_000045 2/13006 2/8600 0/4406
1 c.957A>G r.(?) p.(Ile319Met) g.55573295A>G Copied from the Exome Variant Server KIT_000047 1/13006 0/8600 1/4406
1 c.964A>G r.(?) p.(Thr322Ala) g.55573302A>G Copied from the Exome Variant Server KIT_000049 1/13006 0/8600 1/4406
1 c.978C>T r.(=) p.(=) g.55573316C>T Copied from the Exome Variant Server KIT_000051 3/13006 0/8600 3/4406
1 c.1056C>G r.(?) p.(Asn352Lys) g.55573394C>G Copied from the Exome Variant Server KIT_000053 1/13006 0/8600 1/4406
1 c.1091A>G r.(?) p.(Lys364Arg) g.55573429A>G Copied from the Exome Variant Server KIT_000055 3/13006 0/8600 3/4406
1 c.1095T>A r.(=) p.(=) g.55573433T>A Copied from the Exome Variant Server KIT_000057 2/13006 1/8600 1/4406
1 c.1115+15del r.(=) p.(=) g.55573468del Copied from the Exome Variant Server KIT_000059 4/12520 0/8254 4/4266
1 c.1115+31C>T r.(=) p.(=) g.55573484C>T Copied from the Exome Variant Server KIT_000061 5/13006 5/8600 0/4406
1 c.1115+41C>A r.(=) p.(=) g.55573494C>A Copied from the Exome Variant Server KIT_000062 11/13004 9/8600 2/4404
1 c.1116-5T>C r.spl? p.? g.55575585T>C Copied from the Exome Variant Server KIT_000063 3/13006 0/8600 3/4406
1 c.1116-4G>A r.spl? p.? g.55575586G>A Copied from the Exome Variant Server KIT_000064 1/13006 1/8600 0/4406
1 c.1119C>T r.(=) p.(=) g.55575593C>T Copied from the Exome Variant Server KIT_000065 149/13006 4/8600 145/4406
1 c.1120G>A r.(?) p.(Val374Ile) g.55575594G>A Copied from the Exome Variant Server KIT_000066 27/13006 1/8600 26/4406
1 c.1135C>A r.(?) p.(Leu379Ile) g.55575609C>A Copied from the Exome Variant Server KIT_000067 1/13006 0/8600 1/4406
1 c.1155C>G r.(=) p.(=) g.55575629C>G Copied from the Exome Variant Server KIT_000068 1/13006 1/8600 0/4406
1 c.1194C>T r.(=) p.(=) g.55575668C>T Copied from the Exome Variant Server KIT_000069 1/13006 0/8600 1/4406
1 c.1195G>A r.(?) p.(Val399Ile) g.55575669G>A Copied from the Exome Variant Server KIT_000070 6/13006 6/8600 0/4406
1 c.1199A>G r.(?) p.(Asn400Ser) g.55575673A>G Copied from the Exome Variant Server KIT_000071 35/13006 3/8600 32/4406
1 c.1230T>C r.(=) p.(=) g.55575704T>C Copied from the Exome Variant Server KIT_000072 5/13006 0/8600 5/4406
1 c.1231+45_1231+47del r.(=) p.(=) g.55575750_55575752del Copied from the Exome Variant Server KIT_000073 3/12518 1/8254 2/4264
1 c.1232-45G>T r.(=) p.(=) g.55589705G>T Copied from the Exome Variant Server KIT_000074 1/13006 0/8600 1/4406
1 c.1232-25T>C r.(=) p.(=) g.55589725T>C Copied from the Exome Variant Server KIT_000075 1/13006 0/8600 1/4406
1 c.1281A>T r.(?) p.(Gln427His) g.55589799A>T Copied from the Exome Variant Server KIT_000076 1/13006 1/8600 0/4406
1 c.1317T>C r.(=) p.(=) g.55589835T>C Copied from the Exome Variant Server KIT_000077 1/13006 0/8600 1/4406
1 c.1346+36G>T r.(=) p.(=) g.55589900G>T Copied from the Exome Variant Server KIT_000078 1/13006 0/8600 1/4406
1 c.1347-34G>C r.(=) p.(=) g.55591989G>C Copied from the Exome Variant Server KIT_000079 1/13006 0/8600 1/4406
1 c.1347-25A>T r.(=) p.(=) g.55591998A>T Copied from the Exome Variant Server KIT_000080 2/13006 0/8600 2/4406
1 c.1383A>G r.(=) p.(=) g.55592059A>G Copied from the Exome Variant Server KIT_000081 24/13006 21/8600 3/4406
1 c.1478C>T r.(?) p.(Ala493Val) g.55592154C>T Copied from the Exome Variant Server KIT_000082 1/13006 1/8600 0/4406
1 c.1486G>A r.(?) p.(Asp496Asn) g.55592162G>A Copied from the Exome Variant Server KIT_000083 2/13006 1/8600 1/4406
1 c.1497G>A r.(=) p.(=) g.55592173G>A Copied from the Exome Variant Server KIT_000084 1/13006 1/8600 0/4406
1 c.1541-32_1541-31insT r.(=) p.(=) g.55593352_55593353insT Copied from the Exome Variant Server KIT_000085 1/12520 1/8254 0/4266
1 c.1541-8C>T r.(=) p.(=) g.55593376C>T Copied from the Exome Variant Server KIT_000086 3/13006 0/8600 3/4406
1 c.1555C>T r.(?) p.(His519Tyr) g.55593398C>T Copied from the Exome Variant Server KIT_000087 1/13006 1/8600 0/4406
1 c.1587C>T r.(=) p.(=) g.55593430C>T Copied from the Exome Variant Server KIT_000088 2/13006 1/8600 1/4406
1 c.1588G>A r.(?) p.(Val530Ile) g.55593431G>A Copied from the Exome Variant Server KIT_000089 18/13006 8/8600 10/4406
1 c.1594G>A r.(?) p.(Val532Ile) g.55593437G>A Copied from the Exome Variant Server KIT_000090 6/13006 2/8600 4/4406
1 c.1621A>C r.(?) p.(Met541Leu) g.55593464A>C Copied from the Exome Variant Server KIT_000092 1242/13006 962/8600 280/4406
1 c.1635C>T r.(=) p.(=) g.55593478C>T Copied from the Exome Variant Server KIT_000094 1/13006 0/8600 1/4406
1 c.1638A>G r.(=) p.(=) g.55593481A>G Copied from the Exome Variant Server KIT_000096 285/13006 262/8600 23/4406
1 c.1648-44A>G r.(=) p.(=) g.55593538A>G Copied from the Exome Variant Server KIT_000098 13/13006 12/8600 1/4406
1 c.1648-40A>G r.(=) p.(=) g.55593542A>G Copied from the Exome Variant Server KIT_000100 1/13006 1/8600 0/4406
1 c.1648-35T>C r.(=) p.(=) g.55593547T>C Copied from the Exome Variant Server KIT_000102 1/13006 0/8600 1/4406
1 c.1648-31A>G r.(=) p.(=) g.55593551A>G Copied from the Exome Variant Server KIT_000104 5/13006 0/8600 5/4406
1 c.1648-29G>T r.(=) p.(=) g.55593553G>T Copied from the Exome Variant Server KIT_000107 1/13006 0/8600 1/4406
1 c.1648-24C>A r.(=) p.(=) g.55593558C>A Copied from the Exome Variant Server KIT_000109 1/13006 0/8600 1/4406
1 c.1648-15C>T r.(=) p.(=) g.55593567C>T Copied from the Exome Variant Server KIT_000111 1/13006 1/8600 0/4406
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