All transcript variants in gene CLDN5

Information The variants shown are described using the NM_003277.3 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.227G>A r.(?) p.(Gly76Asp) g.19511807C>T Copied from the Exome Variant Server CLDN5_000020 2/12444 0/8204 2/4240
?/? c.264C>T r.(=) p.(=) g.19511770G>A Copied from the Exome Variant Server CLDN5_000019 1/12914 1/8554 0/4360
?/? c.289G>A r.(?) p.(Val97Met) g.19511745C>T Copied from the Exome Variant Server CLDN5_000018 1/12974 1/8584 0/4390
?/? c.341T>C r.(?) p.(Met114Thr) g.19511693A>G Copied from the Exome Variant Server CLDN5_000017 1/13004 1/8598 0/4406
?/? c.354C>T r.(=) p.(=) g.19511680G>A Copied from the Exome Variant Server CLDN5_000016 1/13004 1/8598 0/4406
?/? c.375C>T r.(=) p.(=) g.19511659G>A Copied from the Exome Variant Server CLDN5_000015 1/13006 0/8600 1/4406
?/? c.483G>A r.(=) p.(=) g.19511551C>T Copied from the Exome Variant Server CLDN5_000014 1/12982 0/8592 1/4390
?/? c.484G>A r.(?) p.(Val162Met) g.19511550C>T Copied from the Exome Variant Server CLDN5_000013 3/12978 2/8588 1/4390
?/? c.489G>A r.(=) p.(=) g.19511545C>T Copied from the Exome Variant Server CLDN5_000012 1/12974 1/8586 0/4388
?/? c.504C>T r.(=) p.(=) g.19511530G>A Copied from the Exome Variant Server CLDN5_000011 1/12956 0/8574 1/4382
?/? c.514G>A r.(?) p.(Ala172Thr) g.19511520C>T Copied from the Exome Variant Server CLDN5_000010 30/12952 1/8562 29/4390
?/? c.553G>T r.(?) p.(Ala185Ser) g.19511481C>A Copied from the Exome Variant Server CLDN5_000009 1/12812 0/8468 1/4344
?/? c.558C>T r.(=) p.(=) g.19511476G>A Copied from the Exome Variant Server CLDN5_000008 369/12760 5/8430 364/4330
?/? c.566G>A r.(?) p.(Cys189Tyr) g.19511468C>T Copied from the Exome Variant Server CLDN5_000007 1/12812 1/8474 0/4338
?/? c.651G>A r.(=) p.(=) g.19511383C>T Copied from the Exome Variant Server CLDN5_000006 1/12972 1/8592 0/4380
?/? c.677A>G r.(?) p.(Asn226Ser) g.19511357T>C Copied from the Exome Variant Server CLDN5_000005 2/12976 0/8596 2/4380
?/? c.704C>T r.(?) p.(Pro235Leu) g.19511330G>A Copied from the Exome Variant Server CLDN5_000004 1/12980 0/8596 1/4384
?/? c.778A>G r.(?) p.(Met260Val) g.19511256T>C Copied from the Exome Variant Server CLDN5_000003 2/12822 0/8482 2/4340
?/? c.831C>G r.(=) p.(=) g.19511203G>C Copied from the Exome Variant Server CLDN5_000002 1/12864 1/8522 0/4342
?/? c.900_902del r.(?) p.(Lys300del) g.19511132_19511134del Copied from the Exome Variant Server CLDN5_000001 22/12088 18/8008 4/4080
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