Unique variants in gene CDH13

Information The variants shown are described using the NM_001257.4 transcript reference sequence.

198 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.-47C>T r.(=) p.(=) g.82660651C>T Copied from the Exome Variant Server CDH13_000001 7/11888 6/8148 1/3740
1 c.-45G>T r.(=) p.(=) g.82660653G>T Copied from the Exome Variant Server CDH13_000002 1/11890 0/8146 1/3744
1 c.-24G>A r.(=) p.(=) g.82660674G>A Copied from the Exome Variant Server CDH13_000003 4/11904 4/8158 0/3746
1 c.-22C>T r.(=) p.(=) g.82660676C>T Copied from the Exome Variant Server CDH13_000004 1/11902 0/8158 1/3744
1 c.11G>A r.(?) p.(Arg4Lys) g.82660708G>A Copied from the Exome Variant Server CDH13_000005 1/11922 1/8164 0/3758
1 c.25C>T r.(=) p.(=) g.82660722C>T Copied from the Exome Variant Server CDH13_000006 2/11890 2/8158 0/3732
1 c.45+63C>A r.(=) p.(=) g.82660805C>A Copied from the Exome Variant Server CDH13_000007 4/4566 4/3182 0/1384
1 c.46-41A>G r.(=) p.(=) g.82891926A>G Copied from the Exome Variant Server CDH13_000008 68/11862 1/8178 67/3684
1 c.46-40T>C r.(=) p.(=) g.82891927T>C Copied from the Exome Variant Server CDH13_000009 265/11866 247/8182 18/3684
1 c.46-34G>A r.(=) p.(=) g.82891933G>A Copied from the Exome Variant Server CDH13_000010 67/11876 1/8182 66/3694
1 c.89G>C r.(?) p.(Gly30Ala) g.82892010G>C Copied from the Exome Variant Server CDH13_000011 1/11996 0/8216 1/3780
1 c.103G>C r.(?) p.(Val35Leu) g.82892024G>C Copied from the Exome Variant Server CDH13_000012 1/12010 1/8218 0/3792
1 c.107T>C r.(?) p.(Phe36Ser) g.82892028T>C Copied from the Exome Variant Server CDH13_000013 1/12018 0/8220 1/3798
1 c.116A>G r.(?) p.(Asn39Ser) g.82892037A>G Copied from the Exome Variant Server CDH13_000014 179/12000 61/8222 118/3778
1 c.148A>C r.(?) p.(Ile50Leu) g.82892069A>C Copied from the Exome Variant Server CDH13_000015 2/11970 2/8226 0/3744
1 c.157+12C>T r.(=) p.(=) g.82892090C>T Copied from the Exome Variant Server CDH13_000016 26/11960 0/8216 26/3744
1 c.158-13G>A r.(=) p.(=) g.83065602G>A Copied from the Exome Variant Server CDH13_000017 6/12330 0/8338 6/3992
1 c.193C>T r.(?) p.(Arg65Cys) g.83065650C>T Copied from the Exome Variant Server CDH13_000018 1/12418 1/8366 0/4052
1 c.194G>A r.(?) p.(Arg65His) g.83065651G>A Copied from the Exome Variant Server CDH13_000019 1/12400 1/8362 0/4038
1 c.206C>G r.(?) p.(Ser69Trp) g.83065663C>G Copied from the Exome Variant Server CDH13_000020 1/12398 0/8362 1/4036
1 c.207G>A r.(=) p.(=) g.83065664G>A Copied from the Exome Variant Server CDH13_000021 6864/12402 4635/8362 2229/4040
1 c.211C>G r.(?) p.(Pro71Ala) g.83065668C>G Copied from the Exome Variant Server CDH13_000022 1/12394 0/8360 1/4034
1 c.221A>G r.(?) p.(Lys74Arg) g.83065678A>G Copied from the Exome Variant Server CDH13_000023 1/12384 1/8366 0/4018
1 c.228C>G r.(?) p.(Asn76Lys) g.83065685C>G Copied from the Exome Variant Server CDH13_000024 1/12388 0/8364 1/4024
1 c.286G>A r.(?) p.(Val96Ile) g.83065743G>A Copied from the Exome Variant Server CDH13_000025 1/12222 0/8288 1/3934
1 c.296G>A r.(?) p.(Arg99Gln) g.83065753G>A Copied from the Exome Variant Server CDH13_000026 1/12172 0/8270 1/3902
1 c.298_299insC r.(?) p.(His102Profs*25) g.83065755_83065756insC Copied from the Exome Variant Server CDH13_000027 1/11602 1/7898 0/3704
1 c.301C>T r.(?) p.(Pro101Ser) g.83065758C>T Copied from the Exome Variant Server CDH13_000028 2/12146 2/8264 0/3882
1 c.308C>A r.(?) p.(Ala103Glu) g.83065765C>A Copied from the Exome Variant Server CDH13_000029 2/12132 2/8248 0/3884
1 c.328G>A r.(?) p.(Val110Met) g.83065785G>A Copied from the Exome Variant Server CDH13_000030 1/12132 0/8242 1/3890
1 c.334G>A r.(?) p.(Val112Ile) g.83065791G>A Copied from the Exome Variant Server CDH13_000031 21/12128 21/8248 0/3880
1 c.336C>T r.(=) p.(=) g.83065793C>T Copied from the Exome Variant Server CDH13_000032 1/12120 0/8248 1/3872
1 c.337G>C r.(?) p.(Gly113Arg) g.83065794G>C Copied from the Exome Variant Server CDH13_000033 17/12126 15/8258 2/3868
1 c.342G>C r.(=) p.(=) g.83065799G>C Copied from the Exome Variant Server CDH13_000034 1/12126 0/8256 1/3870
1 c.360C>A r.(=) p.(=) g.83065817C>A Copied from the Exome Variant Server CDH13_000035 1/12106 1/8252 0/3854
1 c.362T>C r.(?) p.(Leu121Ser) g.83065819T>C Copied from the Exome Variant Server CDH13_000036 4/12100 0/8254 4/3846
1 c.366+17A>T r.(=) p.(=) g.83065840A>T Copied from the Exome Variant Server CDH13_000037 34/12070 24/8246 10/3824
1 c.366+31C>G r.(=) p.(=) g.83065854C>G Copied from the Exome Variant Server CDH13_000038 1/12048 1/8232 0/3816
1 c.366+38G>A r.(=) p.(=) g.83065861G>A Copied from the Exome Variant Server CDH13_000039 85/12042 2/8228 83/3814
1 c.392C>T r.(?) p.(Ser131Phe) g.83159015C>T Copied from the Exome Variant Server CDH13_000040 2/11798 2/8160 0/3638
1 c.431C>T r.(?) p.(Pro144Leu) g.83159054C>T Copied from the Exome Variant Server CDH13_000041 1/11900 1/8202 0/3698
1 c.472G>T r.(?) p.(Asp158Tyr) g.83159095G>T Copied from the Exome Variant Server CDH13_000042 1/12032 0/8236 1/3796
1 c.483+23G>A r.(=) p.(=) g.83159129G>A Copied from the Exome Variant Server CDH13_000043 21/12118 1/8262 20/3856
1 c.483+43A>G r.(=) p.(=) g.83159149A>G Copied from the Exome Variant Server CDH13_000044 11/12108 0/8270 11/3838
1 c.483+48A>G r.(=) p.(=) g.83159154A>G Copied from the Exome Variant Server CDH13_000045 26/12130 25/8282 1/3848
1 c.483+49T>C r.(=) p.(=) g.83159155T>C Copied from the Exome Variant Server CDH13_000046 747/12130 13/8282 734/3848
1 c.484-46_484-45del r.(=) p.(=) g.83250904_83250905del Copied from the Exome Variant Server CDH13_000047 1/11594 1/7908 0/3686
1 c.484-45G>A r.(=) p.(=) g.83250905G>A Copied from the Exome Variant Server CDH13_000048 6/12082 4/8252 2/3830
1 c.521G>T r.(?) p.(Arg174Leu) g.83250987G>T Copied from the Exome Variant Server CDH13_000049 3/11952 2/8202 1/3750
1 c.566G>T r.(?) p.(Arg189Ile) g.83251032G>T Copied from the Exome Variant Server CDH13_000050 1/12080 1/8228 0/3852
1 c.568A>G r.(?) p.(Ile190Val) g.83251034A>G Copied from the Exome Variant Server CDH13_000051 1/12086 0/8228 1/3858
1 c.636+8C>T r.(=) p.(=) g.83251110C>T Copied from the Exome Variant Server CDH13_000052 11/12200 11/8292 0/3908
1 c.636+16C>A r.(=) p.(=) g.83251118C>A Copied from the Exome Variant Server CDH13_000053 1/12190 0/8288 1/3902
1 c.636+27C>G r.(=) p.(=) g.83251129C>G Copied from the Exome Variant Server CDH13_000055 2/12168 0/8280 2/3888
1 c.636+33G>A r.(=) p.(=) g.83251135G>A Copied from the Exome Variant Server CDH13_000057 33/12164 28/8276 5/3888
1 c.636+42T>C r.(=) p.(=) g.83251144T>C Copied from the Exome Variant Server CDH13_000059 1/12160 1/8284 0/3876
1 c.636+44G>A r.(=) p.(=) g.83251146G>A Copied from the Exome Variant Server CDH13_000061 3/12158 3/8284 0/3874
1 c.637-35A>G r.(=) p.(=) g.83378432A>G Copied from the Exome Variant Server CDH13_000054 2/11778 0/8156 2/3622
1 c.637-23C>T r.(=) p.(=) g.83378444C>T Copied from the Exome Variant Server CDH13_000056 16/11798 1/8158 15/3640
1 c.637C>G r.(?) p.(Leu213Val) g.83378467C>G Copied from the Exome Variant Server CDH13_000058 1/11852 1/8162 0/3690
1 c.657T>C r.(=) p.(=) g.83378487T>C Copied from the Exome Variant Server CDH13_000060 47/11880 0/8178 47/3702
1 c.662A>T r.(?) p.(Asn221Ile) g.83378492A>T Copied from the Exome Variant Server CDH13_000062 1/11886 1/8176 0/3710
1 c.672T>A r.(=) p.(=) g.83378502T>A Copied from the Exome Variant Server CDH13_000063 1/11886 1/8182 0/3704
1 c.684G>A r.(=) p.(=) g.83378514G>A Copied from the Exome Variant Server CDH13_000064 1/11940 1/8192 0/3748
1 c.736C>T r.(?) p.(Arg246Trp) g.83378566C>T Copied from the Exome Variant Server CDH13_000065 1/12098 1/8258 0/3840
1 c.745C>A r.(?) p.(Pro249Thr) g.83378575C>A Copied from the Exome Variant Server CDH13_000066 1/12176 1/8276 0/3900
1 c.751A>C r.(?) p.(Ile251Leu) g.83378581A>C Copied from the Exome Variant Server CDH13_000067 1/12210 0/8294 1/3916
1 c.753C>T r.(=) p.(=) g.83378583C>T Copied from the Exome Variant Server CDH13_000068 2/12210 0/8290 2/3920
1 c.759C>T r.(=) p.(=) g.83378589C>T Copied from the Exome Variant Server CDH13_000069 1/12260 1/8304 0/3956
1 c.762C>T r.(=) p.(=) g.83378592C>T Copied from the Exome Variant Server CDH13_000070 2/12264 2/8316 0/3948
1 c.781+4T>A r.spl? p.? g.83378615T>A Copied from the Exome Variant Server CDH13_000071 8/12320 8/8322 0/3998
1 c.781+27G>A r.(=) p.(=) g.83378638G>A Copied from the Exome Variant Server CDH13_000072 49/12280 1/8306 48/3974
1 c.781+49A>T r.(=) p.(=) g.83378660A>T Copied from the Exome Variant Server CDH13_000073 27/12286 0/8302 27/3984
1 c.782-48G>T r.(=) p.(=) g.83520034G>T Copied from the Exome Variant Server CDH13_000074 1/12560 1/8420 0/4140
1 c.782-26C>T r.(=) p.(=) g.83520056C>T Copied from the Exome Variant Server CDH13_000075 2/12604 0/8434 2/4170
1 c.782-17C>A r.(=) p.(=) g.83520065C>A Copied from the Exome Variant Server CDH13_000076 1/12620 0/8438 1/4182
1 c.782-6C>T r.(=) p.(=) g.83520076C>T Copied from the Exome Variant Server CDH13_000077 1/12658 1/8460 0/4198
1 c.782-4G>A r.spl? p.? g.83520078G>A Copied from the Exome Variant Server CDH13_000078 2612/12674 1986/8458 626/4216
1 c.783C>A r.(=) p.(=) g.83520083C>A Copied from the Exome Variant Server CDH13_000079 26/12698 1/8474 25/4224
1 c.803C>T r.(?) p.(Thr268Ile) g.83520103C>T Copied from the Exome Variant Server CDH13_000080 1/12716 1/8484 0/4232
1 c.854A>T r.(?) p.(Asn285Ile) g.83520154A>T Copied from the Exome Variant Server CDH13_000081 1/12616 1/8432 0/4184
1 c.859C>T r.(?) p.(Arg287Cys) g.83520159C>T Copied from the Exome Variant Server CDH13_000082 2/12610 1/8428 1/4182
1 c.860G>A r.(?) p.(Arg287His) g.83520160G>A Copied from the Exome Variant Server CDH13_000083 1/12606 1/8428 0/4178
1 c.864G>A r.(=) p.(=) g.83520164G>A Copied from the Exome Variant Server CDH13_000084 99/12600 2/8428 97/4172
1 c.869C>T r.(?) p.(Thr290Met) g.83520169C>T Copied from the Exome Variant Server CDH13_000085 1/12608 1/8436 0/4172
1 c.903C>T r.(=) p.(=) g.83520203C>T Copied from the Exome Variant Server CDH13_000086 1/12550 1/8434 0/4116
1 c.960+38T>C r.(=) p.(=) g.83520298T>C Copied from the Exome Variant Server CDH13_000087 566/12250 17/8296 549/3954
1 c.960+42A>T r.(=) p.(=) g.83520302A>T Copied from the Exome Variant Server CDH13_000088 1/12240 1/8294 0/3946
1 c.960+47G>T r.(=) p.(=) g.83520307G>T Copied from the Exome Variant Server CDH13_000089 1/12204 1/8292 0/3912
1 c.961-10T>C r.(=) p.(=) g.83636049T>C Copied from the Exome Variant Server CDH13_000090 31/12240 0/8328 31/3912
1 c.980A>G r.(?) p.(Tyr327Cys) g.83636078A>G Copied from the Exome Variant Server CDH13_000091 1/12238 1/8320 0/3918
1 c.993C>T r.(=) p.(=) g.83636091C>T Copied from the Exome Variant Server CDH13_000092 1/12212 0/8314 1/3898
1 c.994G>C r.(?) p.(Glu332Gln) g.83636092G>C Copied from the Exome Variant Server CDH13_000093 2/12206 2/8316 0/3890
1 c.1015C>T r.(=) p.(=) g.83636113C>T Copied from the Exome Variant Server CDH13_000094 1/12222 0/8320 1/3902
1 c.1037C>T r.(?) p.(Thr346Met) g.83636135C>T Copied from the Exome Variant Server CDH13_000095 1/12236 1/8338 0/3898
1 c.1038G>A r.(=) p.(=) g.83636136G>A Copied from the Exome Variant Server CDH13_000096 21/12232 20/8340 1/3892
1 c.1050G>A r.(=) p.(=) g.83636148G>A Copied from the Exome Variant Server CDH13_000097 1/12238 1/8348 0/3890
1 c.1054A>G r.(?) p.(Met352Val) g.83636152A>G Copied from the Exome Variant Server CDH13_000098 3/12244 0/8348 3/3896
1 c.1067A>C r.(?) p.(Lys356Thr) g.83636165A>C Copied from the Exome Variant Server CDH13_000099 1/12244 1/8346 0/3898
1 c.1099G>C r.(?) p.(Glu367Gln) g.83636197G>C Copied from the Exome Variant Server CDH13_000100 13/12250 13/8336 0/3914
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