All transcript variants in gene CMC4

Information The variants shown are described using the NM_001018024.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-10-1894G>A r.(=) p.(=) g.154294202C>T Copied from the Exome Variant Server CMC4_000022 1/9643 0/6425 1/3218
?/? c.-10-1846T>C r.(=) p.(=) g.154294154A>G Copied from the Exome Variant Server CMC4_000021 3/9575 3/6401 0/3174
?/? c.-10-1786G>A r.(=) p.(=) g.154294094C>T Copied from the Exome Variant Server CMC4_000020 1/9550 0/6410 1/3140
?/? c.-10-1735C>A r.(=) p.(=) g.154294043G>T Copied from the Exome Variant Server CMC4_000019 1/9896 0/6491 1/3405
?/? c.-10-1543C>G r.(=) p.(=) g.154293851G>C Copied from the Exome Variant Server CMC4_000018 1/9668 1/6438 0/3230
?/? c.-10-1524A>C r.(=) p.(=) g.154293832T>G Copied from the Exome Variant Server CMC4_000017 1/9578 0/6414 1/3164
?/? c.-10-1509G>A r.(=) p.(=) g.154293817C>T Copied from the Exome Variant Server CMC4_000016 1/9573 0/6417 1/3156
?/? c.-10-1444T>G r.(=) p.(=) g.154293752A>C Copied from the Exome Variant Server CMC4_000015 1/9576 1/6410 0/3166
?/? c.-10-1440A>G r.(=) p.(=) g.154293748T>C Copied from the Exome Variant Server CMC4_000014 1/9584 1/6410 0/3174
?/? c.-10-1438T>A r.(=) p.(=) g.154293746A>T Copied from the Exome Variant Server CMC4_000013 9/9582 7/6410 2/3172
?/? c.-10-41T>C r.(=) p.(=) g.154292349A>G Copied from the Exome Variant Server CMC4_000012 10/10556 0/6723 10/3833
?/? c.-10-36A>G r.(=) p.(=) g.154292344T>C Copied from the Exome Variant Server CMC4_000011 1/10558 1/6723 0/3835
?/? c.6G>A r.(=) p.(=) g.154292293C>T Copied from the Exome Variant Server CMC4_000010 1/10562 0/6727 1/3835
?/? c.41T>C r.(?) p.(Ile14Thr) g.154292258A>G Copied from the Exome Variant Server CMC4_000009 3/10562 0/6727 3/3835
?/? c.58+42G>C r.(=) p.(=) g.154292199C>G Copied from the Exome Variant Server CMC4_000008 1/10557 1/6722 0/3835
?/? c.58+53_58+54del r.(=) p.(=) g.154292187_154292188del Copied from the Exome Variant Server CMC4_000007 2/10182 0/6473 2/3709
?/? c.59-15C>T r.(=) p.(=) g.154290281G>A Copied from the Exome Variant Server CMC4_000025 42/10563 0/6728 42/3835
?/? c.108_109insTT r.(?) p.(Lys37Leufs*26) g.154290216_154290217insAA Copied from the Exome Variant Server CMC4_000024 1/10205 0/6484 1/3721
?/? c.135A>C r.(=) p.(=) g.154290190T>G Copied from the Exome Variant Server CMC4_000023 10/10563 10/6728 0/3835
?/? c.149G>C r.(?) p.(Cys50Ser) g.154290176C>G Copied from the Exome Variant Server CMC4_000006 7/10563 6/6728 1/3835
?/? c.165_168del r.(?) p.(Glu56Argfs*5) g.154290157_154290160del Copied from the Exome Variant Server CMC4_000005 32/10205 22/6484 10/3721
?/? c.188G>A r.(?) p.(Arg63Gln) g.154290137C>T Copied from the Exome Variant Server CMC4_000004 1/10563 1/6728 0/3835
?/? c.189_190insG r.(?) p.(Lys64Glufs*10) g.154290135_154290136insC Copied from the Exome Variant Server CMC4_000003 1/10205 0/6484 1/3721
?/? c.192G>A r.(=) p.(=) g.154290133C>T Copied from the Exome Variant Server CMC4_000002 1/10563 0/6728 1/3835
?/? c.205T>C r.(?) p.(*69Glnext*13) g.154290120A>G Copied from the Exome Variant Server CMC4_000001 21/10563 0/6728 21/3835
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