All transcript variants in gene TDRKH

Information The variants shown are described using the NM_006862.3 transcript reference sequence.

91 entries on 1 page. Showing entries 1 - 91.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.13C>T r.(?) p.(Arg5Trp) g.151755486G>A Copied from the Exome Variant Server TDRKH_000091 1/11882 0/8176 1/3706
?/? c.52G>A r.(?) p.(Ala18Thr) g.151755447C>T Copied from the Exome Variant Server TDRKH_000090 1/11880 1/8174 0/3706
?/? c.103C>T r.(?) p.(Arg35Cys) g.151755396G>A Copied from the Exome Variant Server TDRKH_000089 1/11966 1/8196 0/3770
?/? c.124+4C>G r.spl? p.? g.151755371G>C Copied from the Exome Variant Server TDRKH_000088 49/12014 0/8216 49/3798
?/? c.124+14A>G r.(=) p.(=) g.151755361T>C Copied from the Exome Variant Server TDRKH_000087 1/12020 1/8214 0/3806
?/? c.124+18C>T r.(=) p.(=) g.151755357G>A Copied from the Exome Variant Server TDRKH_000086 2/12034 0/8222 2/3812
?/? c.124+34G>A r.(=) p.(=) g.151755341C>T Copied from the Exome Variant Server TDRKH_000085 1/12028 1/8228 0/3800
?/? c.125-49A>G r.(=) p.(=) g.151754112T>C Copied from the Exome Variant Server TDRKH_000084 5214/12062 4171/8250 1043/3812
?/? c.125-3C>T r.spl? p.? g.151754066G>A Copied from the Exome Variant Server TDRKH_000083 1/12072 0/8258 1/3814
?/? c.203T>C r.(?) p.(Ile68Thr) g.151753985A>G Copied from the Exome Variant Server TDRKH_000082 1/12102 1/8268 0/3834
?/? c.209G>A r.(?) p.(Arg70Gln) g.151753979C>T Copied from the Exome Variant Server TDRKH_000081 1/12094 1/8272 0/3822
?/? c.231+10T>A r.(=) p.(=) g.151753947A>T Copied from the Exome Variant Server TDRKH_000080 4/12170 0/8286 4/3884
?/? c.231+31C>G r.(=) p.(=) g.151753926G>C Copied from the Exome Variant Server TDRKH_000079 1/12162 0/8278 1/3884
?/? c.231+44T>C r.(=) p.(=) g.151753913A>G Copied from the Exome Variant Server TDRKH_000078 1/12146 1/8266 0/3880
?/? c.231+45G>A r.(=) p.(=) g.151753912C>T Copied from the Exome Variant Server TDRKH_000077 2/12144 0/8264 2/3880
?/? c.231+48T>C r.(=) p.(=) g.151753909A>G Copied from the Exome Variant Server TDRKH_000076 61/12148 0/8264 61/3884
?/? c.232-45G>A r.(=) p.(=) g.151752661C>T Copied from the Exome Variant Server TDRKH_000075 1/12178 1/8304 0/3874
?/? c.232-26A>G r.(=) p.(=) g.151752642T>C Copied from the Exome Variant Server TDRKH_000074 1/12342 0/8368 1/3974
?/? c.261T>C r.(=) p.(=) g.151752587A>G Copied from the Exome Variant Server TDRKH_000073 1/12604 1/8454 0/4150
?/? c.272_273del r.(?) p.(Glu91Glyfs*5) g.151752575_151752576del Copied from the Exome Variant Server TDRKH_000072 1/12098 1/8104 0/3994
?/? c.275A>G r.(?) p.(Asp92Gly) g.151752573T>C Copied from the Exome Variant Server TDRKH_000071 1/12624 0/8464 1/4160
?/? c.301A>G r.(?) p.(Ile101Val) g.151752547T>C Copied from the Exome Variant Server TDRKH_000070 1/12606 0/8460 1/4146
?/? c.421+10G>C r.(=) p.(=) g.151752417C>G Copied from the Exome Variant Server TDRKH_000069 1/12000 0/8224 1/3776
?/? c.421+44C>T r.(=) p.(=) g.151752383G>A Copied from the Exome Variant Server TDRKH_000068 1224/11924 935/8198 289/3726
?/? c.421+50C>A r.(=) p.(=) g.151752377G>T Copied from the Exome Variant Server TDRKH_000066 2/11916 2/8194 0/3722
?/? c.422-12T>C r.(=) p.(=) g.151751730A>G Copied from the Exome Variant Server TDRKH_000064 9/11854 0/8170 9/3684
?/? c.423G>C r.(=) p.(=) g.151751717C>G Copied from the Exome Variant Server TDRKH_000062 1/11880 1/8170 0/3710
?/? c.433G>A r.(?) p.(Glu145Lys) g.151751707C>T Copied from the Exome Variant Server TDRKH_000060 2/11886 2/8172 0/3714
?/? c.561+30T>G r.(=) p.(=) g.151751549A>C Copied from the Exome Variant Server TDRKH_000058 1/12010 0/8230 1/3780
?/? c.562-44T>C r.(=) p.(=) g.151751526A>G Copied from the Exome Variant Server TDRKH_000056 4/11990 1/8228 3/3762
?/? c.562-43C>T r.(=) p.(=) g.151751525G>A Copied from the Exome Variant Server TDRKH_000054 2/11996 0/8232 2/3764
?/? c.562-37C>G r.(=) p.(=) g.151751519G>C Copied from the Exome Variant Server TDRKH_000052 2/11986 2/8228 0/3758
?/? c.562-4A>G r.spl? p.? g.151751486T>C Copied from the Exome Variant Server TDRKH_000050 2/11984 2/8226 0/3758
?/? c.641G>A r.(?) p.(Arg214His) g.151751403C>T Copied from the Exome Variant Server TDRKH_000067 7/12400 0/8346 7/4054
?/? c.650C>T r.(?) p.(Pro217Leu) g.151751394G>A Copied from the Exome Variant Server TDRKH_000065 2/12432 2/8354 0/4078
?/? c.652A>G r.(?) p.(Ile218Val) g.151751392T>C Copied from the Exome Variant Server TDRKH_000063 2/12434 2/8356 0/4078
?/? c.723T>C r.(=) p.(=) g.151751321A>G Copied from the Exome Variant Server TDRKH_000061 1/12388 1/8340 0/4048
?/? c.742G>A r.(?) p.(Ala248Thr) g.151751302C>T Copied from the Exome Variant Server TDRKH_000059 1/12290 0/8324 1/3966
?/? c.770G>C r.(?) p.(Gly257Ala) g.151751274C>G Copied from the Exome Variant Server TDRKH_000057 344/12202 315/8296 29/3906
?/? c.777C>T r.(=) p.(=) g.151751267G>A Copied from the Exome Variant Server TDRKH_000055 3/12214 0/8296 3/3918
?/? c.778G>A r.(?) p.(Asp260Asn) g.151751266C>T Copied from the Exome Variant Server TDRKH_000053 2/12220 2/8306 0/3914
?/? c.781A>G r.(?) p.(Met261Val) g.151751263T>C Copied from the Exome Variant Server TDRKH_000051 1/12234 1/8306 0/3928
?/? c.796T>G r.(?) p.(Ser266Ala) g.151751248A>C Copied from the Exome Variant Server TDRKH_000049 1/12264 0/8334 1/3930
?/? c.831C>T r.(=) p.(=) g.151751213G>A Copied from the Exome Variant Server TDRKH_000048 1/12438 0/8412 1/4026
?/? c.883+7A>G r.(=) p.(=) g.151751154T>C Copied from the Exome Variant Server TDRKH_000047 3/12884 3/8564 0/4320
?/? c.883+31T>C r.(=) p.(=) g.151751130A>G Copied from the Exome Variant Server TDRKH_000046 1/12976 1/8594 0/4382
?/? c.883+38T>G r.(=) p.(=) g.151751123A>C Copied from the Exome Variant Server TDRKH_000045 1/12990 1/8598 0/4392
?/? c.957C>T r.(=) p.(=) g.151749002G>A Copied from the Exome Variant Server TDRKH_000044 1/12142 0/8278 1/3864
?/? c.967A>G r.(?) p.(Ile323Val) g.151748992T>C Copied from the Exome Variant Server TDRKH_000043 50/12118 48/8266 2/3852
?/? c.986G>A r.(?) p.(Arg329His) g.151748973C>T Copied from the Exome Variant Server TDRKH_000042 1/12144 1/8276 0/3868
?/? c.1039A>C r.(?) p.(Ser347Arg) g.151748920T>G Copied from the Exome Variant Server TDRKH_000041 27/12102 0/8276 27/3826
?/? c.1045-42C>A r.(=) p.(=) g.151748786G>T Copied from the Exome Variant Server TDRKH_000040 1/12166 1/8288 0/3878
?/? c.1045-36G>T r.(=) p.(=) g.151748780C>A Copied from the Exome Variant Server TDRKH_000039 2/12160 1/8290 1/3870
?/? c.1056G>C r.(?) p.(Leu352Phe) g.151748733C>G Copied from the Exome Variant Server TDRKH_000038 14/12178 14/8302 0/3876
?/? c.1121G>A r.(?) p.(Arg374Gln) g.151748668C>T Copied from the Exome Variant Server TDRKH_000037 1/12078 1/8274 0/3804
?/? c.1129G>A r.(?) p.(Gly377Ser) g.151748660C>T Copied from the Exome Variant Server TDRKH_000036 2/12090 0/8262 2/3828
?/? c.1179T>G r.(?) p.(Asp393Glu) g.151748610A>C Copied from the Exome Variant Server TDRKH_000035 1/12138 1/8282 0/3856
?/? c.1210G>T r.(?) p.(Ala404Ser) g.151748579C>A Copied from the Exome Variant Server TDRKH_000034 59/12270 54/8334 5/3936
?/? c.1211C>T r.(?) p.(Ala404Val) g.151748578G>A Copied from the Exome Variant Server TDRKH_000033 63/12274 58/8336 5/3938
?/? c.1217+6T>A r.(=) p.(=) g.151748566A>T Copied from the Exome Variant Server TDRKH_000032 2/12312 2/8350 0/3962
?/? c.1218-65G>T r.(=) p.(=) g.151748425C>A Copied from the Exome Variant Server TDRKH_000031 2955/4566 2069/3182 886/1384
?/? c.1218-58G>A r.(=) p.(=) g.151748418C>T Copied from the Exome Variant Server TDRKH_000030 11/4566 0/3182 11/1384
?/? c.1218-8T>A r.(=) p.(=) g.151748368A>T Copied from the Exome Variant Server TDRKH_000029 2/11828 2/8152 0/3676
?/? c.1235T>C r.(?) p.(Leu412Pro) g.151748343A>G Copied from the Exome Variant Server TDRKH_000028 1/11826 1/8150 0/3676
?/? c.1268G>A r.(?) p.(Arg423Gln) g.151748310C>T Copied from the Exome Variant Server TDRKH_000027 1/11872 0/8174 1/3698
?/? c.1282+17A>G r.(=) p.(=) g.151748279T>C Copied from the Exome Variant Server TDRKH_000026 3/11882 0/8174 3/3708
?/? c.1282+30A>C r.(=) p.(=) g.151748266T>G Copied from the Exome Variant Server TDRKH_000025 2/11892 2/8182 0/3710
?/? c.1283-42G>A r.(=) p.(=) g.151748061C>T Copied from the Exome Variant Server TDRKH_000024 3/12066 0/8260 3/3806
?/? c.1283-5G>C r.spl? p.? g.151748024C>G Copied from the Exome Variant Server TDRKH_000023 1/12040 1/8242 0/3798
?/? c.1283-2A>T r.spl? p.? g.151748021T>A Copied from the Exome Variant Server TDRKH_000022 1/12054 1/8244 0/3810
?/? c.1332T>C r.(=) p.(=) g.151747970A>G Copied from the Exome Variant Server TDRKH_000021 2225/12174 1816/8286 409/3888
?/? c.1351C>T r.(=) p.(=) g.151747951G>A Copied from the Exome Variant Server TDRKH_000020 4/12176 0/8290 4/3886
?/? c.1430G>A r.(?) p.(Gly477Glu) g.151747872C>T Copied from the Exome Variant Server TDRKH_000019 1/12130 0/8260 1/3870
?/? c.1434+8T>G r.(=) p.(=) g.151747860A>C Copied from the Exome Variant Server TDRKH_000018 2/12124 0/8258 2/3866
?/? c.1434+34C>T r.(=) p.(=) g.151747834G>A Copied from the Exome Variant Server TDRKH_000017 9/11992 0/8202 9/3790
?/? c.1453G>C r.(?) p.(Glu485Gln) g.151747624C>G Copied from the Exome Variant Server TDRKH_000016 1/11954 0/8222 1/3732
?/? c.1482G>C r.(?) p.(Glu494Asp) g.151747595C>G Copied from the Exome Variant Server TDRKH_000015 1/12028 1/8246 0/3782
?/? c.1514T>A r.(?) p.(Val505Asp) g.151747563A>T Copied from the Exome Variant Server TDRKH_000014 1/12090 1/8268 0/3822
?/? c.1525T>C r.(=) p.(=) g.151747552A>G Copied from the Exome Variant Server TDRKH_000013 1/12094 1/8270 0/3824
?/? c.1536+18T>C r.(=) p.(=) g.151747523A>G Copied from the Exome Variant Server TDRKH_000012 1/12058 1/8258 0/3800
?/? c.1537-35A>G r.(=) p.(=) g.151747317T>C Copied from the Exome Variant Server TDRKH_000011 1/12118 1/8258 0/3860
?/? c.1565C>T r.(?) p.(Thr522Met) g.151747254G>A Copied from the Exome Variant Server TDRKH_000010 1/12248 0/8324 1/3924
?/? c.1574_1575del r.(?) p.(Thr525Argfs*27) g.151747244_151747245del Copied from the Exome Variant Server TDRKH_000009 4/11732 4/7954 0/3778
?/? c.1605A>G r.(=) p.(=) g.151747214T>C Copied from the Exome Variant Server TDRKH_000008 1/12234 0/8300 1/3934
?/? c.1634-63G>A r.(=) p.(=) g.151747043C>T Copied from the Exome Variant Server TDRKH_000007 1972/4566 1589/3182 383/1384
?/? c.1634-14T>C r.(=) p.(=) g.151746994A>G Copied from the Exome Variant Server TDRKH_000006 1/12076 1/8262 0/3814
?/? c.1634-7T>G r.(=) p.(=) g.151746987A>C Copied from the Exome Variant Server TDRKH_000005 1/12096 1/8264 0/3832
?/? c.1634-4A>G r.spl? p.? g.151746984T>C Copied from the Exome Variant Server TDRKH_000004 1/12134 1/8272 0/3862
?/? c.1634-3T>C r.spl? p.? g.151746983A>G Copied from the Exome Variant Server TDRKH_000003 1/12134 1/8272 0/3862
?/? c.1641T>A r.(=) p.(=) g.151746973A>T Copied from the Exome Variant Server TDRKH_000002 1/12178 1/8284 0/3894
?/? c.*39+26A>G r.(=) p.(=) g.151746863T>C Copied from the Exome Variant Server TDRKH_000001 1/4566 1/3182 0/1384
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