All transcript variants in gene KLK14

Information The variants shown are described using the NM_022046.4 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-42C>T r.(=) p.(=) g.51586046G>A Copied from the Exome Variant Server KLK14_000066 1/12196 0/8266 1/3930
?/? c.-39C>T r.(=) p.(=) g.51586043G>A Copied from the Exome Variant Server KLK14_000065 4/12188 4/8262 0/3926
?/? c.-15C>T r.(=) p.(=) g.51586019G>A Copied from the Exome Variant Server KLK14_000064 4/12234 4/8296 0/3938
?/? c.-11G>T r.(=) p.(=) g.51586015C>A Copied from the Exome Variant Server KLK14_000063 1/12270 1/8320 0/3950
?/? c.26+1G>A r.spl? p.? g.51585978C>T Copied from the Exome Variant Server KLK14_000062 133/12342 123/8342 10/4000
?/? c.26+36C>T r.(=) p.(=) g.51585943G>A Copied from the Exome Variant Server KLK14_000061 1/12298 0/8308 1/3990
?/? c.88+31G>A r.(=) p.(=) g.51585801C>T Copied from the Exome Variant Server KLK14_000060 2/11916 0/8196 2/3720
?/? c.88+36C>T r.(=) p.(=) g.51585796G>A Copied from the Exome Variant Server KLK14_000059 1/11886 0/8188 1/3698
?/? c.89-29T>G r.(=) p.(=) g.51584989A>C Copied from the Exome Variant Server KLK14_000058 802/12112 7/8188 795/3924
?/? c.98A>G r.(?) p.(Gln33Arg) g.51584951T>C Copied from the Exome Variant Server KLK14_000057 5400/12268 3132/8276 2268/3992
?/? c.125T>C r.(?) p.(Ile42Thr) g.51584924A>G Copied from the Exome Variant Server KLK14_000056 3/12226 3/8252 0/3974
?/? c.130G>A r.(?) p.(Gly44Ser) g.51584919C>T Copied from the Exome Variant Server KLK14_000055 1/12194 0/8240 1/3954
?/? c.133C>T r.(?) p.(His45Tyr) g.51584916G>A Copied from the Exome Variant Server KLK14_000054 5067/12180 2584/8240 2483/3940
?/? c.138G>A r.(=) p.(=) g.51584911C>T Copied from the Exome Variant Server KLK14_000053 1/12170 1/8230 0/3940
?/? c.145C>T r.(?) p.(Arg49Trp) g.51584904G>A Copied from the Exome Variant Server KLK14_000052 6/12064 2/8158 4/3906
?/? c.146G>A r.(?) p.(Arg49Gln) g.51584903C>T Copied from the Exome Variant Server KLK14_000051 49/12038 3/8148 46/3890
?/? c.158C>T r.(?) p.(Pro53Leu) g.51584891G>A Copied from the Exome Variant Server KLK14_000050 3/11938 0/8106 3/3832
?/? c.159G>C r.(=) p.(=) g.51584890C>G Copied from the Exome Variant Server KLK14_000049 1/11914 1/8086 0/3828
?/? c.167C>T r.(?) p.(Ala56Val) g.51584882G>A Copied from the Exome Variant Server KLK14_000048 1/11794 1/8018 0/3776
?/? c.182G>A r.(?) p.(Gly61Asp) g.51584867C>T Copied from the Exome Variant Server KLK14_000047 13/11520 11/7862 2/3658
?/? c.189G>A r.(=) p.(=) g.51584860C>T Copied from the Exome Variant Server KLK14_000046 4/11406 0/7794 4/3612
?/? c.191G>A r.(?) p.(Arg64His) g.51584858C>T Copied from the Exome Variant Server KLK14_000045 562/11396 24/7784 538/3612
?/? c.193C>T r.(?) p.(Arg65Cys) g.51584856G>A Copied from the Exome Variant Server KLK14_000044 2/11414 0/7792 2/3622
?/? c.252C>T r.(=) p.(=) g.51584797G>A Copied from the Exome Variant Server KLK14_000043 2/11640 2/7956 0/3684
?/? c.256C>T r.(?) p.(Arg86Cys) g.51584793G>A Copied from the Exome Variant Server KLK14_000042 5/11624 0/7968 5/3656
?/? c.260C>T r.(?) p.(Pro87Leu) g.51584789G>A Copied from the Exome Variant Server KLK14_000041 10/11606 0/7954 10/3652
?/? c.260+46T>C r.(=) p.(=) g.51584743A>G Copied from the Exome Variant Server KLK14_000040 4737/11066 2704/7590 2033/3476
?/? c.261-44T>C r.(=) p.(=) g.51583003A>G Copied from the Exome Variant Server KLK14_000039 5234/11456 2940/7786 2294/3670
?/? c.261-42G>A r.(=) p.(=) g.51583001C>T Copied from the Exome Variant Server KLK14_000038 5/11498 0/7812 5/3686
?/? c.261-35C>A r.(=) p.(=) g.51582994G>T Copied from the Exome Variant Server KLK14_000037 1517/11674 1312/7938 205/3736
?/? c.261-8G>A r.(=) p.(=) g.51582967C>T Copied from the Exome Variant Server KLK14_000036 10/12150 6/8212 4/3938
?/? c.325C>T r.(?) p.(Arg109Cys) g.51582895G>A Copied from the Exome Variant Server KLK14_000035 89/12576 25/8416 64/4160
?/? c.335G>A r.(?) p.(Arg112His) g.51582885C>T Copied from the Exome Variant Server KLK14_000034 69/12592 1/8416 68/4176
?/? c.353A>G r.(?) p.(Asn118Ser) g.51582867T>C Copied from the Exome Variant Server KLK14_000033 26/12584 0/8418 26/4166
?/? c.365G>A r.(?) p.(Arg122Gln) g.51582855C>T Copied from the Exome Variant Server KLK14_000032 1/12586 1/8420 0/4166
?/? c.372C>T r.(=) p.(=) g.51582848G>A Copied from the Exome Variant Server KLK14_000031 1/12570 1/8428 0/4142
?/? c.409G>A r.(?) p.(Ala137Thr) g.51582811C>T Copied from the Exome Variant Server KLK14_000030 2/12440 0/8346 2/4094
?/? c.412C>T r.(?) p.(Arg138Trp) g.51582808G>A Copied from the Exome Variant Server KLK14_000029 93/12448 82/8350 11/4098
?/? c.413G>A r.(?) p.(Arg138Gln) g.51582807C>T Copied from the Exome Variant Server KLK14_000028 1/12440 1/8350 0/4090
?/? c.417C>T r.(=) p.(=) g.51582803G>A Copied from the Exome Variant Server KLK14_000027 2/12436 0/8354 2/4082
?/? c.418G>A r.(?) p.(Gly140Arg) g.51582802C>T Copied from the Exome Variant Server KLK14_000026 1/12418 0/8354 1/4064
?/? c.424G>T r.(?) p.(Ala142Ser) g.51582796C>A Copied from the Exome Variant Server KLK14_000025 1/12412 1/8352 0/4060
?/? c.478C>T r.(?) p.(Arg160*) g.51582742G>A Copied from the Exome Variant Server KLK14_000024 3/12212 0/8314 3/3898
?/? c.483G>A r.(=) p.(=) g.51582737C>T Copied from the Exome Variant Server KLK14_000023 1/12238 1/8322 0/3916
?/? c.513C>T r.(=) p.(=) g.51582707G>A Copied from the Exome Variant Server KLK14_000022 1/12142 1/8304 0/3838
?/? c.514+14C>T r.(=) p.(=) g.51582692G>A Copied from the Exome Variant Server KLK14_000021 1/12126 0/8296 1/3830
?/? c.514+15G>A r.(=) p.(=) g.51582691C>T Copied from the Exome Variant Server KLK14_000020 1/12102 0/8282 1/3820
?/? c.515-9G>T r.(=) p.(=) g.51582217C>A Copied from the Exome Variant Server KLK14_000019 230/12456 211/8370 19/4086
?/? c.539G>T r.(?) p.(Cys180Phe) g.51582184C>A Copied from the Exome Variant Server KLK14_000018 1/12416 1/8368 0/4048
?/? c.540C>A r.(?) p.(Cys180*) g.51582183G>T Copied from the Exome Variant Server KLK14_000017 1/12416 1/8368 0/4048
?/? c.557C>T r.(?) p.(Ser186Phe) g.51582166G>A Copied from the Exome Variant Server KLK14_000016 18/12396 1/8364 17/4032
?/? c.560C>T r.(?) p.(Pro187Leu) g.51582163G>A Copied from the Exome Variant Server KLK14_000015 17/12382 0/8362 17/4020
?/? c.566A>G r.(?) p.(Glu189Gly) g.51582157T>C Copied from the Exome Variant Server KLK14_000014 50/12392 1/8364 49/4028
?/? c.579G>A r.(=) p.(=) g.51582144C>T Copied from the Exome Variant Server KLK14_000013 49/12374 1/8354 48/4020
?/? c.613T>C r.(?) p.(Cys205Arg) g.51582110A>G Copied from the Exome Variant Server KLK14_000012 1/12304 1/8348 0/3956
?/? c.625C>T r.(?) p.(Pro209Ser) g.51582098G>A Copied from the Exome Variant Server KLK14_000011 6/12274 6/8324 0/3950
?/? c.633C>T r.(=) p.(=) g.51582090G>A Copied from the Exome Variant Server KLK14_000010 383/12232 7/8318 376/3914
?/? c.652-5C>T r.spl? p.? g.51581421G>A Copied from the Exome Variant Server KLK14_000009 3/12558 0/8430 3/4128
?/? c.656A>G r.(?) p.(Asp219Gly) g.51581412T>C Copied from the Exome Variant Server KLK14_000008 24/12520 21/8410 3/4110
?/? c.704C>T r.(?) p.(Ser235Phe) g.51581364G>A Copied from the Exome Variant Server KLK14_000007 1/12554 1/8426 0/4128
?/? c.718C>T r.(?) p.(Arg240Cys) g.51581350G>A Copied from the Exome Variant Server KLK14_000006 2/12600 2/8434 0/4166
?/? c.724G>A r.(?) p.(Ala242Thr) g.51581344C>T Copied from the Exome Variant Server KLK14_000005 2/12626 2/8458 0/4168
?/? c.771A>G r.(=) p.(=) g.51581297T>C Copied from the Exome Variant Server KLK14_000004 1/12746 1/8484 0/4262
?/? c.794G>T r.(?) p.(Arg265Leu) g.51581274C>A Copied from the Exome Variant Server KLK14_000003 1/12794 0/8504 1/4290
?/? c.*10C>T r.(=) p.(=) g.51581254G>A Copied from the Exome Variant Server KLK14_000002 655/12782 50/8492 605/4290
?/? c.*11G>A r.(=) p.(=) g.51581253C>T Copied from the Exome Variant Server KLK14_000001 474/12784 8/8492 466/4292
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