Unique variants in gene CMSS1

Information The variants shown are described using the NM_032359.3 transcript reference sequence.

218 entries on 3 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.-69A>C r.(=) p.(=) g.99536755A>C Copied from the Exome Variant Server CMSS1_000001 9/4566 0/3182 9/1384
1 c.-6G>A r.(=) p.(=) g.99536818G>A Copied from the Exome Variant Server CMSS1_000002 1/13006 1/8600 0/4406
1 c.-5_-4insTGAA r.(=) p.(=) g.99536819_99536820insTGAA Copied from the Exome Variant Server CMSS1_000003 1/12520 0/8254 1/4266
1 c.10G>A r.(?) p.(Asp4Asn) g.99536833G>A Copied from the Exome Variant Server CMSS1_000004 1/13006 1/8600 0/4406
1 c.37C>G r.(?) p.(Gln13Glu) g.99536860C>G Copied from the Exome Variant Server CMSS1_000005 1/13004 1/8600 0/4404
1 c.64+4C>G r.spl? p.? g.99536891C>G Copied from the Exome Variant Server CMSS1_000006 1/13004 1/8600 0/4404
1 c.64+24C>T r.(=) p.(=) g.99536911C>T Copied from the Exome Variant Server CMSS1_000007 9/13004 0/8600 9/4404
1 c.64+27C>T r.(=) p.(=) g.99536914C>T Copied from the Exome Variant Server CMSS1_000008 1/13004 0/8600 1/4404
1 c.64+50C>T r.(=) p.(=) g.99536937C>T Copied from the Exome Variant Server CMSS1_000009 3798/12990 3470/8588 328/4402
1 c.64+15138T>C r.(=) p.(=) g.99552025T>C Copied from the Exome Variant Server CMSS1_000010 19/4566 0/3182 19/1384
1 c.64+15160G>A r.(=) p.(=) g.99552047G>A Copied from the Exome Variant Server CMSS1_000011 1/11870 0/8188 1/3682
1 c.64+15162A>G r.(=) p.(=) g.99552049A>G Copied from the Exome Variant Server CMSS1_000012 9/11880 8/8190 1/3690
1 c.64+15190G>A r.(=) p.(=) g.99552077G>A Copied from the Exome Variant Server CMSS1_000013 4/11886 3/8190 1/3696
1 c.64+15195A>G r.(=) p.(=) g.99552082A>G Copied from the Exome Variant Server CMSS1_000014 2/11880 2/8190 0/3690
1 c.64+15304_64+15307del r.(=) p.(=) g.99552191_99552194del Copied from the Exome Variant Server CMSS1_000015 4/11336 0/7828 4/3508
1 c.64+30227G>A r.(=) p.(=) g.99567114G>A Copied from the Exome Variant Server FILIP1L_000001 3/12202 2/8298 1/3904
1 c.64+30229G>A r.(=) p.(=) g.99567116G>A Copied from the Exome Variant Server FILIP1L_000002 2/12206 0/8296 2/3910
1 c.64+30268C>T r.(?) p.(Arg882Gln) g.99567155C>T Copied from the Exome Variant Server FILIP1L_000003 1/12266 0/8308 1/3958
1 c.64+30269G>A r.(?) p.(Arg882*) g.99567156G>A Copied from the Exome Variant Server FILIP1L_000004 1/12288 1/8314 0/3974
1 c.64+30321del r.(?) p.(Asn865Ilefs*24) g.99567208del Copied from the Exome Variant Server FILIP1L_000006 5/11828 2/7986 3/3842
1 c.64+30361C>T r.(?) p.(Arg851Gln) g.99567248C>T Copied from the Exome Variant Server FILIP1L_000008 2/12432 2/8374 0/4058
1 c.64+30388C>T r.(?) p.(Ser842Asn) g.99567275C>T Copied from the Exome Variant Server FILIP1L_000010 34/12518 0/8392 34/4126
1 c.64+30402A>G r.(=) p.(=) g.99567289A>G Copied from the Exome Variant Server FILIP1L_000012 2/12590 2/8438 0/4152
1 c.64+30455T>C r.(?) p.(Asn820Asp) g.99567342T>C Copied from the Exome Variant Server FILIP1L_000014 1/12766 1/8494 0/4272
1 c.64+30496C>T r.(?) p.(Arg806His) g.99567383C>T Copied from the Exome Variant Server FILIP1L_000016 1/12888 1/8542 0/4346
1 c.64+30497G>A r.(?) p.(Arg806Cys) g.99567384G>A Copied from the Exome Variant Server FILIP1L_000018 1/12902 1/8542 0/4360
1 c.64+30509A>G r.(?) p.(Trp802Arg) g.99567396A>G Copied from the Exome Variant Server FILIP1L_000020 1/12914 1/8552 0/4362
1 c.64+30521G>A r.(?) p.(Arg798Trp) g.99567408G>A Copied from the Exome Variant Server FILIP1L_000022 2/12912 2/8548 0/4364
1 c.64+30609A>G r.(=) p.(=) g.99567496A>G Copied from the Exome Variant Server FILIP1L_000024 1/12598 0/8444 1/4154
1 c.64+30619A>C r.(?) p.(Leu765Trp) g.99567506A>C Copied from the Exome Variant Server FILIP1L_000005 1/12506 1/8424 0/4082
1 c.64+30694G>C r.(?) p.(Thr740Ser) g.99567581G>C Copied from the Exome Variant Server FILIP1L_000007 1/12216 0/8302 1/3914
1 c.64+30767G>C r.(?) p.(Pro716Ala) g.99567654G>C Copied from the Exome Variant Server FILIP1L_000009 1/12248 0/8292 1/3956
1 c.64+30771T>C r.(?) p.(Ile714Met) g.99567658T>C Copied from the Exome Variant Server FILIP1L_000011 1/12268 0/8300 1/3968
1 c.64+30773T>C r.(?) p.(Ile714Val) g.99567660T>C Copied from the Exome Variant Server FILIP1L_000013 1/12272 0/8302 1/3970
1 c.64+30774_64+30776del r.(?) p.(Ser713del) g.99567661_99567663del Copied from the Exome Variant Server FILIP1L_000015 4/11776 4/7958 0/3818
1 c.64+30793G>A r.(?) p.(Thr707Ile) g.99567680G>A Copied from the Exome Variant Server FILIP1L_000017 1/12396 0/8338 1/4058
1 c.64+30810C>T r.(=) p.(=) g.99567697C>T Copied from the Exome Variant Server FILIP1L_000019 1/12428 0/8346 1/4082
1 c.64+30811G>A r.(?) p.(Thr701Met) g.99567698G>A Copied from the Exome Variant Server FILIP1L_000021 1/12444 0/8358 1/4086
1 c.64+30822C>G r.(=) p.(=) g.99567709C>G Copied from the Exome Variant Server FILIP1L_000023 13/12428 0/8362 13/4066
1 c.64+30838C>T r.(?) p.(Ser692Asn) g.99567725C>T Copied from the Exome Variant Server FILIP1L_000025 1/12470 1/8386 0/4084
1 c.64+30840C>T r.(=) p.(=) g.99567727C>T Copied from the Exome Variant Server FILIP1L_000026 1/12466 1/8378 0/4088
1 c.64+30841G>A r.(?) p.(Thr691Met) g.99567728G>A Copied from the Exome Variant Server FILIP1L_000027 4/12474 0/8380 4/4094
1 c.64+30864G>A r.(=) p.(=) g.99567751G>A Copied from the Exome Variant Server FILIP1L_000028 2/12478 2/8396 0/4082
1 c.64+30943G>A r.(?) p.(Thr657Ile) g.99567830G>A Copied from the Exome Variant Server FILIP1L_000029 1/12356 1/8364 0/3992
1 c.64+31020G>A r.(=) p.(=) g.99567907G>A Copied from the Exome Variant Server FILIP1L_000030 1/12142 0/8278 1/3864
1 c.64+31100G>A r.(=) p.(=) g.99567987G>A Copied from the Exome Variant Server FILIP1L_000031 1/12290 1/8334 0/3956
1 c.64+31125C>A r.(?) p.(Glu596Asp) g.99568012C>A Copied from the Exome Variant Server FILIP1L_000032 1/12310 1/8348 0/3962
1 c.64+31174C>T r.(?) p.(Arg580His) g.99568061C>T Copied from the Exome Variant Server FILIP1L_000033 1/12252 0/8304 1/3948
1 c.64+31175G>A r.(?) p.(Arg580Cys) g.99568062G>A Copied from the Exome Variant Server FILIP1L_000034 1/12228 0/8304 1/3924
1 c.64+31187T>C r.(?) p.(Ile576Val) g.99568074T>C Copied from the Exome Variant Server FILIP1L_000035 8/12226 8/8302 0/3924
1 c.64+31237T>C r.(?) p.(Glu559Gly) g.99568124T>C Copied from the Exome Variant Server FILIP1L_000036 1/11962 1/8212 0/3750
1 c.64+31260G>A r.(=) p.(=) g.99568147G>A Copied from the Exome Variant Server FILIP1L_000037 33/11916 0/8196 33/3720
1 c.64+31342A>G r.(?) p.(Ile524Thr) g.99568229A>G Copied from the Exome Variant Server FILIP1L_000038 3/11856 2/8166 1/3690
1 c.64+31352C>G r.(?) p.(Gly521Arg) g.99568239C>G Copied from the Exome Variant Server FILIP1L_000039 8/11856 0/8166 8/3690
1 c.64+31376G>T r.(?) p.(Gln513Lys) g.99568263G>T Copied from the Exome Variant Server FILIP1L_000040 1/11874 1/8188 0/3686
1 c.64+31398G>A r.(=) p.(=) g.99568285G>A Copied from the Exome Variant Server FILIP1L_000041 55/11910 0/8202 55/3708
1 c.64+31445T>A r.(?) p.(Met490Leu) g.99568332T>A Copied from the Exome Variant Server FILIP1L_000042 3/11932 3/8202 0/3730
1 c.64+31456A>G r.(?) p.(Ile486Thr) g.99568343A>G Copied from the Exome Variant Server FILIP1L_000043 1/11908 1/8182 0/3726
1 c.64+31473A>C r.(?) p.(Asp480Glu) g.99568360A>C Copied from the Exome Variant Server FILIP1L_000044 1/11918 0/8204 1/3714
1 c.64+31507T>G r.(?) p.(Glu469Ala) g.99568394T>G Copied from the Exome Variant Server FILIP1L_000045 2/11908 2/8194 0/3714
1 c.64+31550T>C r.(?) p.(Thr455Ala) g.99568437T>C Copied from the Exome Variant Server FILIP1L_000046 33/11920 0/8206 33/3714
1 c.64+31567A>G r.(?) p.(Leu449Ser) g.99568454A>G Copied from the Exome Variant Server FILIP1L_000047 1/11920 0/8210 1/3710
1 c.64+31601C>G r.(?) p.(Glu438Gln) g.99568488C>G Copied from the Exome Variant Server FILIP1L_000048 2/11924 2/8214 0/3710
1 c.64+31651C>T r.(?) p.(Arg421Gln) g.99568538C>T Copied from the Exome Variant Server FILIP1L_000049 5/11960 5/8210 0/3750
1 c.64+31668T>G r.(?) p.(Glu415Asp) g.99568555T>G Copied from the Exome Variant Server FILIP1L_000050 1/11964 0/8214 1/3750
1 c.64+31707C>T r.(?) p.(Met402Ile) g.99568594C>T Copied from the Exome Variant Server FILIP1L_000051 1/11974 0/8226 1/3748
1 c.64+31747G>C r.(?) p.(Ser389Cys) g.99568634G>C Copied from the Exome Variant Server FILIP1L_000052 13/11904 0/8198 13/3706
1 c.64+31815T>C r.(=) p.(=) g.99568702T>C Copied from the Exome Variant Server FILIP1L_000053 1/11808 1/8152 0/3656
1 c.64+31843G>A r.(?) p.(Ala357Val) g.99568730G>A Copied from the Exome Variant Server FILIP1L_000055 1/11822 1/8168 0/3654
1 c.64+31850A>G r.(=) p.(=) g.99568737A>G Copied from the Exome Variant Server FILIP1L_000057 163/11822 1/8170 162/3652
1 c.64+31852G>A r.(?) p.(Ser354Leu) g.99568739G>A Copied from the Exome Variant Server FILIP1L_000059 1/11822 1/8172 0/3650
1 c.64+31885G>C r.(?) p.(Ser343*) g.99568772G>C Copied from the Exome Variant Server FILIP1L_000061 1/11844 0/8176 1/3668
1 c.64+31892G>A r.(?) p.(Leu341Phe) g.99568779G>A Copied from the Exome Variant Server FILIP1L_000063 1/11878 1/8192 0/3686
1 c.64+31904T>G r.(?) p.(Lys337Gln) g.99568791T>G Copied from the Exome Variant Server FILIP1L_000065 10/11880 9/8190 1/3690
1 c.64+31951G>A r.(?) p.(Thr321Ile) g.99568838G>A Copied from the Exome Variant Server FILIP1L_000067 3/11932 0/8206 3/3726
1 c.64+31953T>C r.(=) p.(=) g.99568840T>C Copied from the Exome Variant Server FILIP1L_000069 1/11936 0/8208 1/3728
1 c.64+31977A>G r.(=) p.(=) g.99568864A>G Copied from the Exome Variant Server FILIP1L_000071 1/11908 1/8192 0/3716
1 c.64+31979C>T r.(?) p.(Asp312Asn) g.99568866C>T Copied from the Exome Variant Server FILIP1L_000073 1/11908 1/8190 0/3718
1 c.64+31995C>T r.(=) p.(=) g.99568882C>T Copied from the Exome Variant Server FILIP1L_000075 2/11888 0/8188 2/3700
1 c.64+31996G>A r.(?) p.(Ala306Val) g.99568883G>A Copied from the Exome Variant Server FILIP1L_000054 1/11878 0/8182 1/3696
1 c.64+32031T>C r.(=) p.(=) g.99568918T>C Copied from the Exome Variant Server FILIP1L_000056 2/11818 0/8166 2/3652
1 c.64+32069A>C r.(?) p.(Ser282Ala) g.99568956A>C Copied from the Exome Variant Server FILIP1L_000058 5/11796 1/8162 4/3634
1 c.64+32075C>T r.(?) p.(Ala280Thr) g.99568962C>T Copied from the Exome Variant Server FILIP1L_000060 1/11792 1/8162 0/3630
1 c.64+32111T>G r.(?) p.(Ser268Arg) g.99568998T>G Copied from the Exome Variant Server FILIP1L_000062 1/11764 1/8144 0/3620
1 c.64+32123G>A r.(?) p.(Arg264Trp) g.99569010G>A Copied from the Exome Variant Server FILIP1L_000064 3/11776 1/8150 2/3626
1 c.64+32139C>A r.(=) p.(=) g.99569026C>A Copied from the Exome Variant Server FILIP1L_000066 1/11778 1/8146 0/3632
1 c.64+32213C>A r.(?) p.(Ala234Ser) g.99569100C>A Copied from the Exome Variant Server FILIP1L_000068 1/11790 0/8136 1/3654
1 c.64+32261A>G r.(=) p.(=) g.99569148A>G Copied from the Exome Variant Server FILIP1L_000070 1/11840 0/8160 1/3680
1 c.64+32301C>T r.(=) p.(=) g.99569188C>T Copied from the Exome Variant Server FILIP1L_000072 56/11826 0/8154 56/3672
1 c.64+32426G>A r.(?) p.(Leu163Phe) g.99569313G>A Copied from the Exome Variant Server FILIP1L_000074 1/11860 1/8176 0/3684
1 c.64+32434T>C r.(?) p.(Asn160Ser) g.99569321T>C Copied from the Exome Variant Server FILIP1L_000076 8/11872 7/8174 1/3698
1 c.64+32479T>C r.(?) p.(Lys145Arg) g.99569366T>C Copied from the Exome Variant Server FILIP1L_000077 1/11950 1/8220 0/3730
1 c.64+32501G>A r.(?) p.(Arg138Cys) g.99569388G>A Copied from the Exome Variant Server FILIP1L_000078 2/11958 2/8218 0/3740
1 c.64+32586C>T r.(=) p.(=) g.99569473C>T Copied from the Exome Variant Server FILIP1L_000079 2/11890 2/8182 0/3708
1 c.64+32599C>T r.(?) p.(Arg105Gln) g.99569486C>T Copied from the Exome Variant Server FILIP1L_000080 2/11878 2/8176 0/3702
1 c.64+32618C>T r.(?) p.(Glu99Lys) g.99569505C>T Copied from the Exome Variant Server FILIP1L_000081 1/11910 1/8180 0/3730
1 c.64+32648C>T r.(?) p.(Ala89Thr) g.99569535C>T Copied from the Exome Variant Server FILIP1L_000082 1/11922 0/8176 1/3746
1 c.64+32700C>T r.(=) p.(=) g.99569587C>T Copied from the Exome Variant Server FILIP1L_000083 1/12118 0/8256 1/3862
1 c.64+32701G>T r.(?) p.(Ala71Glu) g.99569588G>T Copied from the Exome Variant Server FILIP1L_000084 1/12130 0/8254 1/3876
1 c.64+32712G>T r.(?) p.(Asp67Glu) g.99569599G>T Copied from the Exome Variant Server FILIP1L_000085 1/12168 1/8276 0/3892
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