All transcript variants in gene KRT14

Information The variants shown are described using the NM_000526.4 transcript reference sequence.

112 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-9C>G r.(=) p.(=) g.39743095G>C Copied from the Exome Variant Server KRT14_000112 42/11982 0/7966 42/4016
?/? c.-6T>C r.(=) p.(=) g.39743092A>G Copied from the Exome Variant Server KRT14_000111 1/11860 0/7898 1/3962
?/? c.6C>T r.(=) p.(=) g.39743081G>A Copied from the Exome Variant Server KRT14_000110 6438/11700 4461/7808 1977/3892
?/? c.54C>T r.(=) p.(=) g.39743033G>A Copied from the Exome Variant Server KRT14_000109 2/11428 0/7590 2/3838
?/? c.69_70insT r.(?) p.(Ile24Tyrfs*59) g.39743017_39743018insA Copied from the Exome Variant Server KRT14_000108 143/11206 66/7424 77/3782
?/? c.70_81del r.(?) p.(Ile24_Gly27del) g.39743006_39743017del Copied from the Exome Variant Server KRT14_000107 57/9590 30/6416 27/3174
?/? c.88C>T r.(?) p.(Arg30Cys) g.39742999G>A Copied from the Exome Variant Server KRT14_000106 29/12176 11/8060 18/4116
?/? c.134C>T r.(?) p.(Thr45Ile) g.39742953G>A Copied from the Exome Variant Server KRT14_000105 11/12710 10/8406 1/4304
?/? c.139G>A r.(?) p.(Gly47Arg) g.39742948C>T Copied from the Exome Variant Server KRT14_000104 2/12740 2/8432 0/4308
?/? c.166C>T r.(?) p.(Arg56Cys) g.39742921G>A Copied from the Exome Variant Server KRT14_000103 65/12926 57/8562 8/4364
?/? c.193C>T r.(=) p.(=) g.39742894G>A Copied from the Exome Variant Server KRT14_000102 6680/12898 4639/8534 2041/4364
?/? c.202G>A r.(?) p.(Gly68Ser) g.39742885C>T Copied from the Exome Variant Server KRT14_000101 26/12926 24/8548 2/4378
?/? c.206A>G r.(?) p.(Tyr69Cys) g.39742881T>C Copied from the Exome Variant Server KRT14_000100 1/12938 0/8554 1/4384
?/? c.231C>T r.(=) p.(=) g.39742856G>A Copied from the Exome Variant Server KRT14_000099 3615/13004 2884/8600 731/4404
?/? c.264T>C r.(=) p.(=) g.39742823A>G Copied from the Exome Variant Server KRT14_000098 1/13006 1/8600 0/4406
?/? c.312T>C r.(=) p.(=) g.39742775A>G Copied from the Exome Variant Server KRT14_000097 1/13006 1/8600 0/4406
?/? c.379G>T r.(?) p.(Ala127Ser) g.39742708C>A Copied from the Exome Variant Server KRT14_000096 1/12998 1/8592 0/4406
?/? c.387C>T r.(=) p.(=) g.39742700G>A Copied from the Exome Variant Server KRT14_000095 1/12962 0/8558 1/4404
?/? c.420C>T r.(=) p.(=) g.39742667G>A Copied from the Exome Variant Server KRT14_000094 1/13002 1/8596 0/4406
?/? c.424G>A r.(?) p.(Asp142Asn) g.39742663C>T Copied from the Exome Variant Server KRT14_000093 2/13002 2/8596 0/4406
?/? c.427C>T r.(=) p.(=) g.39742660G>A Copied from the Exome Variant Server KRT14_000092 1/13002 1/8596 0/4406
?/? c.456G>C r.(?) p.(Gln152His) g.39742631C>G Copied from the Exome Variant Server KRT14_000091 1/13006 1/8600 0/4406
?/? c.463C>T r.(?) p.(Arg155Trp) g.39742624G>A Copied from the Exome Variant Server KRT14_000090 1/13006 1/8600 0/4406
?/? c.464G>A r.(?) p.(Arg155Gln) g.39742623C>T Copied from the Exome Variant Server KRT14_000089 1/13006 0/8600 1/4406
?/? c.469G>C r.(?) p.(Ala157Pro) g.39742618C>G Copied from the Exome Variant Server KRT14_000088 1/13006 0/8600 1/4406
?/? c.525+17C>T r.(=) p.(=) g.39742545G>A Copied from the Exome Variant Server KRT14_000087 1/13006 0/8600 1/4406
?/? c.526-39T>C r.(=) p.(=) g.39741348A>G Copied from the Exome Variant Server KRT14_000086 1/13006 1/8600 0/4406
?/? c.537C>A r.(=) p.(=) g.39741298G>T Copied from the Exome Variant Server KRT14_000085 1/13006 1/8600 0/4406
?/? c.555T>C r.(=) p.(=) g.39741280A>G Copied from the Exome Variant Server KRT14_000084 800/13006 6/8600 794/4406
?/? c.585G>A r.(=) p.(=) g.39741250C>T Copied from the Exome Variant Server KRT14_000083 2/13006 0/8600 2/4406
?/? c.588C>T r.(=) p.(=) g.39741247G>A Copied from the Exome Variant Server KRT14_000082 1/13006 1/8600 0/4406
?/? c.608+20C>G r.(=) p.(=) g.39741207G>C Copied from the Exome Variant Server KRT14_000081 6/13006 1/8600 5/4406
?/? c.609-49G>A r.(=) p.(=) g.39740714C>T Copied from the Exome Variant Server KRT14_000080 1/13006 1/8600 0/4406
?/? c.609-10G>A r.(=) p.(=) g.39740675C>T Copied from the Exome Variant Server KRT14_000079 2/13006 0/8600 2/4406
?/? c.609-6T>C r.(=) p.(=) g.39740671A>G Copied from the Exome Variant Server KRT14_000078 1/13006 1/8600 0/4406
?/? c.627C>T r.(=) p.(=) g.39740647G>A Copied from the Exome Variant Server KRT14_000077 6/13006 1/8600 5/4406
?/? c.631C>T r.(?) p.(Arg211Cys) g.39740643G>A Copied from the Exome Variant Server KRT14_000076 2/13006 2/8600 0/4406
?/? c.645A>G r.(=) p.(=) g.39740629T>C Copied from the Exome Variant Server KRT14_000075 567/13006 5/8600 562/4406
?/? c.648C>G r.(=) p.(=) g.39740626G>C Copied from the Exome Variant Server KRT14_000074 94/13006 1/8600 93/4406
?/? c.660C>T r.(=) p.(=) g.39740614G>A Copied from the Exome Variant Server KRT14_000073 1/13006 0/8600 1/4406
?/? c.724C>T r.(=) p.(=) g.39740550G>A Copied from the Exome Variant Server KRT14_000072 1/13006 0/8600 1/4406
?/? c.740C>A r.(?) p.(Ala247Asp) g.39740534G>T Copied from the Exome Variant Server KRT14_000071 6/13006 0/8600 6/4406
?/? c.765+51T>A r.(=) p.(=) g.39740458A>T Copied from the Exome Variant Server KRT14_000070 3/13006 3/8600 0/4406
?/? c.766-51A>G r.(=) p.(=) g.39740224T>C Copied from the Exome Variant Server KRT14_000069 2/13006 0/8600 2/4406
?/? c.766-48C>T r.(=) p.(=) g.39740221G>A Copied from the Exome Variant Server KRT14_000068 2/13006 0/8600 2/4406
?/? c.766-47G>A r.(=) p.(=) g.39740220C>T Copied from the Exome Variant Server KRT14_000067 264/13006 61/8600 203/4406
?/? c.766-34A>C r.(=) p.(=) g.39740207T>G Copied from the Exome Variant Server KRT14_000066 3/13006 2/8600 1/4406
?/? c.831C>T r.(=) p.(=) g.39740108G>A Copied from the Exome Variant Server KRT14_000065 1/13006 1/8600 0/4406
?/? c.838C>A r.(?) p.(Leu280Met) g.39740101G>T Copied from the Exome Variant Server KRT14_000064 1/13006 0/8600 1/4406
?/? c.845G>A r.(?) p.(Arg282His) g.39740094C>T Copied from the Exome Variant Server KRT14_000063 1/13006 1/8600 0/4406
?/? c.855C>T r.(=) p.(=) g.39740084G>A Copied from the Exome Variant Server KRT14_000062 2/13006 1/8600 1/4406
?/? c.881T>C r.(?) p.(Met294Thr) g.39740058A>G Copied from the Exome Variant Server KRT14_000061 1/13006 1/8600 0/4406
?/? c.927+16G>A r.(=) p.(=) g.39739996C>T Copied from the Exome Variant Server KRT14_000060 1/13006 1/8600 0/4406
?/? c.927+23G>A r.(=) p.(=) g.39739989C>T Copied from the Exome Variant Server KRT14_000059 1/13006 0/8600 1/4406
?/? c.927+42T>C r.(=) p.(=) g.39739970A>G Copied from the Exome Variant Server KRT14_000058 4/13006 3/8600 1/4406
?/? c.928-27G>C r.(=) p.(=) g.39739955C>G Copied from the Exome Variant Server KRT14_000057 1/13006 0/8600 1/4406
?/? c.928-11C>A r.(=) p.(=) g.39739939G>T Copied from the Exome Variant Server KRT14_000056 1/13006 1/8600 0/4406
?/? c.928-11_928-10del r.(=) p.(=) g.39739938_39739939del Copied from the Exome Variant Server KRT14_000055 1/12518 0/8254 1/4264
?/? c.945C>T r.(=) p.(=) g.39739911G>A Copied from the Exome Variant Server KRT14_000054 1/13006 0/8600 1/4406
?/? c.989A>C r.(?) p.(Glu330Ala) g.39739867T>G Copied from the Exome Variant Server KRT14_000053 1/13006 1/8600 0/4406
?/? c.996G>A r.(=) p.(=) g.39739860C>T Copied from the Exome Variant Server KRT14_000052 1/13006 1/8600 0/4406
?/? c.1013T>G r.(?) p.(Met338Arg) g.39739843A>C Copied from the Exome Variant Server KRT14_000051 2/13006 2/8600 0/4406
?/? c.1053+9A>T r.(=) p.(=) g.39739794T>A Copied from the Exome Variant Server KRT14_000050 1/13006 1/8600 0/4406
?/? c.1053+36A>T r.(=) p.(=) g.39739767T>A Copied from the Exome Variant Server KRT14_000049 1/13006 1/8600 0/4406
?/? c.1054-43G>A r.(=) p.(=) g.39739750C>T Copied from the Exome Variant Server KRT14_000048 9/13006 9/8600 0/4406
?/? c.1163G>A r.(?) p.(Arg388His) g.39739598C>T Copied from the Exome Variant Server KRT14_000047 2/13006 2/8600 0/4406
?/? c.1167C>T r.(=) p.(=) g.39739594G>A Copied from the Exome Variant Server KRT14_000046 1/13006 1/8600 0/4406
?/? c.1203G>A r.(=) p.(=) g.39739558C>T Copied from the Exome Variant Server KRT14_000045 5/13006 4/8600 1/4406
?/? c.1219C>A r.(=) p.(=) g.39739542G>T Copied from the Exome Variant Server KRT14_000044 218/13006 2/8600 216/4406
?/? c.1236C>T r.(=) p.(=) g.39739525G>A Copied from the Exome Variant Server KRT14_000043 1/13002 1/8596 0/4406
?/? c.1237G>A r.(?) p.(Ala413Thr) g.39739524C>T Copied from the Exome Variant Server KRT14_000042 94/13002 79/8596 15/4406
?/? c.1241C>A r.(?) p.(Thr414Asn) g.39739520G>T Copied from the Exome Variant Server KRT14_000041 1/13004 0/8598 1/4406
?/? c.1249C>T r.(?) p.(Arg417Cys) g.39739512G>A Copied from the Exome Variant Server KRT14_000040 1/13000 0/8596 1/4404
?/? c.1269C>T r.(=) p.(=) g.39739492G>A Copied from the Exome Variant Server KRT14_000039 1/13006 0/8600 1/4406
?/? c.1274+12C>T r.(=) p.(=) g.39739475G>A Copied from the Exome Variant Server KRT14_000038 13/13006 13/8600 0/4406
?/? c.1274+29C>G r.(=) p.(=) g.39739458G>C Copied from the Exome Variant Server KRT14_000037 232/13004 202/8600 30/4404
?/? c.1274+30_1274+31insT r.(=) p.(=) g.39739456_39739457insA Copied from the Exome Variant Server KRT14_000036 4/12518 1/8254 3/4264
?/? c.1274+31_1274+32insG r.(=) p.(=) g.39739455_39739456insC Copied from the Exome Variant Server KRT14_000035 1/12518 0/8254 1/4264
?/? c.1274+33_1274+34insA r.(=) p.(=) g.39739453_39739454insT Copied from the Exome Variant Server KRT14_000033 3/12518 0/8254 3/4264
?/? c.1274+33_1274+34insG r.(=) p.(=) g.39739453_39739454insC Copied from the Exome Variant Server KRT14_000034 16/12518 1/8254 15/4264
?/? c.1274+34_1274+35insCC r.(=) p.(=) g.39739452_39739453insGG Copied from the Exome Variant Server KRT14_000032 7/12512 0/8252 7/4260
?/? c.1274+35del r.(=) p.(=) g.39739452del Copied from the Exome Variant Server KRT14_000031 46/12512 34/8252 12/4260
?/? c.1274+35dup r.(=) p.(=) g.39739452dup Copied from the Exome Variant Server KRT14_000030 583/12512 42/8252 541/4260
?/? c.1274+36_1274+37insA r.(=) p.(=) g.39739450_39739451insT Copied from the Exome Variant Server KRT14_000029 18/12518 1/8254 17/4264
?/? c.1274+41A>G r.(=) p.(=) g.39739446T>C Copied from the Exome Variant Server KRT14_000028 1/13006 1/8600 0/4406
?/? c.1274+47A>T r.(=) p.(=) g.39739440T>A Copied from the Exome Variant Server KRT14_000027 1/13006 1/8600 0/4406
?/? c.1275-47C>T r.(=) p.(=) g.39739439G>A Copied from the Exome Variant Server KRT14_000026 3/13006 0/8600 3/4406
?/? c.1275-45G>A r.(=) p.(=) g.39739437C>T Copied from the Exome Variant Server KRT14_000025 1/13006 0/8600 1/4406
?/? c.1275-19T>C r.(=) p.(=) g.39739411A>G Copied from the Exome Variant Server KRT14_000024 568/13006 5/8600 563/4406
?/? c.1288C>T r.(?) p.(Gln430*) g.39739379G>A Copied from the Exome Variant Server KRT14_000023 2/13006 2/8600 0/4406
?/? c.1304C>A r.(?) p.(Ser435*) g.39739363G>T Copied from the Exome Variant Server KRT14_000022 3/13006 1/8600 2/4406
?/? c.1305G>A r.(=) p.(=) g.39739362C>T Copied from the Exome Variant Server KRT14_000021 1/13006 1/8600 0/4406
?/? c.1321+12C>T r.(=) p.(=) g.39739334G>A Copied from the Exome Variant Server KRT14_000020 1/13006 0/8600 1/4406
?/? c.1321+13T>C r.(=) p.(=) g.39739333A>G Copied from the Exome Variant Server KRT14_000019 3/13006 0/8600 3/4406
?/? c.1321+35G>C r.(=) p.(=) g.39739311C>G Copied from the Exome Variant Server KRT14_000018 1/13006 0/8600 1/4406
?/? c.1321+44C>T r.(=) p.(=) g.39739302G>A Copied from the Exome Variant Server KRT14_000017 318/13006 5/8600 313/4406
?/? c.1321+52del r.(=) p.(=) g.39739294del Copied from the Exome Variant Server KRT14_000016 10/12512 5/8248 5/4264
?/? c.1321+62T>C r.(=) p.(=) g.39739284A>G Copied from the Exome Variant Server KRT14_000015 2/4566 0/3182 2/1384
?/? c.1321+74A>T r.(=) p.(=) g.39739272T>A Copied from the Exome Variant Server KRT14_000014 167/4566 4/3182 163/1384
?/? c.1322-15C>T r.(=) p.(=) g.39738799G>A Copied from the Exome Variant Server KRT14_000013 1/12938 1/8548 0/4390
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