All transcript variants in gene CLMP

Information The variants shown are described using the NM_024769.2 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-82G>T r.(=) p.(=) g.123065730C>A Copied from the Exome Variant Server CLMP_000072 1023/4540 375/3168 648/1372
?/? c.-72C>G r.(=) p.(=) g.123065720G>C Copied from the Exome Variant Server CLMP_000071 36/4558 0/3178 36/1380
?/? c.-49G>A r.(=) p.(=) g.123065697C>T Copied from the Exome Variant Server CLMP_000070 1/12948 1/8580 0/4368
?/? c.-35G>A r.(=) p.(=) g.123065683C>T Copied from the Exome Variant Server CLMP_000069 5595/12980 4743/8598 852/4382
?/? c.-9G>A r.(=) p.(=) g.123065657C>T Copied from the Exome Variant Server CLMP_000068 1/12990 0/8598 1/4392
?/? c.19_21del r.(?) p.(Leu9del) g.123065628_123065630del Copied from the Exome Variant Server CLMP_000067 1/12514 0/8254 1/4260
?/? c.28+9C>T r.(=) p.(=) g.123065612G>A Copied from the Exome Variant Server CLMP_000066 1/13002 1/8598 0/4404
?/? c.28+23G>A r.(=) p.(=) g.123065598C>T Copied from the Exome Variant Server CLMP_000065 1/13002 0/8598 1/4404
?/? c.28+34G>A r.(=) p.(=) g.123065587C>T Copied from the Exome Variant Server CLMP_000064 12/12998 12/8596 0/4402
?/? c.28+37G>T r.(=) p.(=) g.123065584C>A Copied from the Exome Variant Server CLMP_000063 206/12998 15/8596 191/4402
?/? c.79G>A r.(?) p.(Ala27Thr) g.122968610C>T Copied from the Exome Variant Server CLMP_000062 1/13002 1/8598 0/4404
?/? c.89_90insAAAA r.(?) p.(Val31Lysfs*21) g.122968599_122968600insTTTT Copied from the Exome Variant Server CLMP_000061 1/12518 0/8254 1/4264
?/? c.163G>A r.(?) p.(Asp55Asn) g.122968526C>T Copied from the Exome Variant Server CLMP_000060 28/13002 25/8598 3/4404
?/? c.186+6T>C r.(=) p.(=) g.122968497A>G Copied from the Exome Variant Server CLMP_000059 1/13002 0/8598 1/4404
?/? c.186+7A>G r.(=) p.(=) g.122968496T>C Copied from the Exome Variant Server CLMP_000058 1/13002 0/8598 1/4404
?/? c.206G>A r.(?) p.(Arg69His) g.122955402C>T Copied from the Exome Variant Server CLMP_000057 180/13002 160/8598 20/4404
?/? c.207T>C r.(=) p.(=) g.122955401A>G Copied from the Exome Variant Server CLMP_000056 1/13002 1/8598 0/4404
?/? c.235C>G r.(?) p.(Gln79Glu) g.122955373G>C Copied from the Exome Variant Server CLMP_000055 1/13002 0/8598 1/4404
?/? c.243C>T r.(=) p.(=) g.122955365G>A Copied from the Exome Variant Server CLMP_000054 1/13002 0/8598 1/4404
?/? c.273A>G r.(=) p.(=) g.122955335T>C Copied from the Exome Variant Server CLMP_000053 17/13002 0/8598 17/4404
?/? c.298C>T r.(?) p.(Pro100Ser) g.122955310G>A Copied from the Exome Variant Server CLMP_000052 14/13002 0/8598 14/4404
?/? c.324G>T r.(=) p.(=) g.122955284C>A Copied from the Exome Variant Server CLMP_000051 1/13002 0/8598 1/4404
?/? c.358G>A r.(?) p.(Val120Met) g.122955250C>T Copied from the Exome Variant Server CLMP_000050 4/13002 4/8598 0/4404
?/? c.383T>A r.(?) p.(Val128Asp) g.122955225A>T Copied from the Exome Variant Server CLMP_000049 1/13002 0/8598 1/4404
?/? c.388+9G>A r.(=) p.(=) g.122955211C>T Copied from the Exome Variant Server CLMP_000048 2/13002 2/8598 0/4404
?/? c.388+17A>C r.(=) p.(=) g.122955203T>G Copied from the Exome Variant Server CLMP_000047 2/13002 0/8598 2/4404
?/? c.388+48T>C r.(=) p.(=) g.122955172A>G Copied from the Exome Variant Server CLMP_000046 21/13002 18/8598 3/4404
?/? c.437del r.(?) p.(Gly146Glufs*4) g.122954507del Copied from the Exome Variant Server CLMP_000045 1/12518 0/8254 1/4264
?/? c.453G>A r.(=) p.(=) g.122954491C>T Copied from the Exome Variant Server CLMP_000044 142/13002 4/8598 138/4404
?/? c.505A>C r.(?) p.(Ile169Leu) g.122954439T>G Copied from the Exome Variant Server CLMP_000043 1/13002 0/8598 1/4404
?/? c.541C>A r.(?) p.(Pro181Thr) g.122954403G>T Copied from the Exome Variant Server CLMP_000042 1/13002 1/8598 0/4404
?/? c.557-45T>C r.(=) p.(=) g.122953960A>G Copied from the Exome Variant Server CLMP_000041 39/13002 1/8598 38/4404
?/? c.557-36T>C r.(=) p.(=) g.122953951A>G Copied from the Exome Variant Server CLMP_000040 1/13002 1/8598 0/4404
?/? c.615G>T r.(=) p.(=) g.122953857C>A Copied from the Exome Variant Server CLMP_000039 1/13002 0/8598 1/4404
?/? c.659T>C r.(?) p.(Val220Ala) g.122953813A>G Copied from the Exome Variant Server CLMP_000038 1/13002 1/8598 0/4404
?/? c.663G>A r.(=) p.(=) g.122953809C>T Copied from the Exome Variant Server CLMP_000037 1/13002 1/8598 0/4404
?/? c.666A>G r.(=) p.(=) g.122953806T>C Copied from the Exome Variant Server CLMP_000036 3/13002 2/8598 1/4404
?/? c.679+34_679+35del r.(=) p.(=) g.122953758_122953759del Copied from the Exome Variant Server CLMP_000035 2/12518 2/8254 0/4264
?/? c.680-56_680-52del r.(=) p.(=) g.122945603_122945607del Copied from the Exome Variant Server CLMP_000034 117/12518 0/8254 117/4264
?/? c.680-16G>C r.(=) p.(=) g.122945567C>G Copied from the Exome Variant Server CLMP_000033 427/13002 2/8598 425/4404
?/? c.684A>G r.(=) p.(=) g.122945547T>C Copied from the Exome Variant Server CLMP_000032 1/13002 0/8598 1/4404
?/? c.709G>A r.(?) p.(Ala237Thr) g.122945522C>T Copied from the Exome Variant Server CLMP_000029 1/13002 0/8598 1/4404
?/? c.728C>T r.(?) p.(Ala243Val) g.122945503G>A Copied from the Exome Variant Server CLMP_000028 1/13002 1/8598 0/4404
?/? c.792T>C r.(=) p.(=) g.122945439A>G Copied from the Exome Variant Server CLMP_000026 1/13002 1/8598 0/4404
?/? c.793G>A r.(?) p.(Glu265Lys) g.122945438C>T Copied from the Exome Variant Server CLMP_000023 1/13002 1/8598 0/4404
?/? c.804G>A r.(=) p.(=) g.122945427C>T Copied from the Exome Variant Server CLMP_000021 1/13002 1/8598 0/4404
?/? c.821+27C>T r.(=) p.(=) g.122945383G>A Copied from the Exome Variant Server CLMP_000019 1/13002 0/8598 1/4404
?/? c.821+28G>A r.(=) p.(=) g.122945382C>T Copied from the Exome Variant Server CLMP_000017 4/13002 0/8598 4/4404
?/? c.821+35_821+36del r.(=) p.(=) g.122945374_122945375del Copied from the Exome Variant Server CLMP_000015 120/12518 0/8254 120/4264
?/? c.821+43G>C r.(=) p.(=) g.122945367C>G Copied from the Exome Variant Server CLMP_000013 230/13002 12/8598 218/4404
?/? c.822-30G>C r.(=) p.(=) g.122944512C>G Copied from the Exome Variant Server CLMP_000011 7/13002 1/8598 6/4404
?/? c.822-15G>C r.(=) p.(=) g.122944497C>G Copied from the Exome Variant Server CLMP_000009 1/13002 0/8598 1/4404
?/? c.822-9del r.(=) p.(=) g.122944491del Copied from the Exome Variant Server CLMP_000007 13/12518 11/8254 2/4264
?/? c.822-8C>T r.(=) p.(=) g.122944490G>A Copied from the Exome Variant Server CLMP_000005 2/13002 0/8598 2/4404
?/? c.828T>C r.(=) p.(=) g.122944476A>G Copied from the Exome Variant Server CLMP_000002 1/13002 0/8598 1/4404
?/? c.848G>A r.(?) p.(Arg283His) g.122944456C>T Copied from the Exome Variant Server CLMP_000001 1/13002 1/8598 0/4404
?/? c.849T>C r.(=) p.(=) g.122944455A>G Copied from the Exome Variant Server CLMP_000031 1/13002 1/8598 0/4404
?/? c.860C>G r.(?) p.(Pro287Arg) g.122944444G>C Copied from the Exome Variant Server CLMP_000030 1/13002 0/8598 1/4404
?/? c.866C>T r.(?) p.(Ser289Phe) g.122944438G>A Copied from the Exome Variant Server CLMP_000027 1/13002 1/8598 0/4404
?/? c.888C>T r.(=) p.(=) g.122944416G>A Copied from the Exome Variant Server CLMP_000025 62/13002 58/8598 4/4404
?/? c.899G>A r.(?) p.(Gly300Asp) g.122944405C>T Copied from the Exome Variant Server CLMP_000024 3/13002 0/8598 3/4404
?/? c.917C>A r.(?) p.(Ser306Tyr) g.122944387G>T Copied from the Exome Variant Server CLMP_000022 2/13002 2/8598 0/4404
?/? c.932C>T r.(?) p.(Ala311Val) g.122944372G>A Copied from the Exome Variant Server CLMP_000020 3/13002 3/8598 0/4404
?/? c.937C>T r.(?) p.(Arg313Cys) g.122944367G>A Copied from the Exome Variant Server CLMP_000018 1/13002 0/8598 1/4404
?/? c.946C>T r.(?) p.(Arg316Trp) g.122944358G>A Copied from the Exome Variant Server CLMP_000016 1/13002 1/8598 0/4404
?/? c.987C>T r.(=) p.(=) g.122944317G>A Copied from the Exome Variant Server CLMP_000014 1/13002 1/8598 0/4404
?/? c.1011G>A r.(=) p.(=) g.122944293C>T Copied from the Exome Variant Server CLMP_000012 84/13002 74/8598 10/4404
?/? c.1035A>G r.(=) p.(=) g.122944269T>C Copied from the Exome Variant Server CLMP_000010 1/13002 0/8598 1/4404
?/? c.1083C>T r.(=) p.(=) g.122944221G>A Copied from the Exome Variant Server CLMP_000008 1/13002 1/8598 0/4404
?/? c.1115C>T r.(?) p.(Thr372Met) g.122944189G>A Copied from the Exome Variant Server CLMP_000006 2/13002 1/8598 1/4404
?/? c.*15G>T r.(=) p.(=) g.122944167C>A Copied from the Exome Variant Server CLMP_000004 1/13002 1/8598 0/4404
?/? c.*50A>G r.(=) p.(=) g.122944132T>C Copied from the Exome Variant Server CLMP_000003 1/13002 1/8598 0/4404
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