All transcript variants in gene SMS

Information The variants shown are described using the NM_004595.4 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.60G>A r.(=) p.(=) g.21985324G>A Copied from the Exome Variant Server SMS_000001 1/10563 1/6728 0/3835
?/? c.62C>G r.(?) p.(Thr21Ser) g.21985326C>G Copied from the Exome Variant Server SMS_000002 2/10563 0/6728 2/3835
?/? c.63C>T r.(=) p.(=) g.21985327C>T Copied from the Exome Variant Server SMS_000003 1/10563 1/6728 0/3835
?/? c.113C>T r.(?) p.(Ser38Leu) g.21985377C>T Copied from the Exome Variant Server SMS_000004 1/10558 0/6723 1/3835
?/? c.114G>A r.(=) p.(=) g.21985378G>A Copied from the Exome Variant Server SMS_000005 2/10558 2/6723 0/3835
?/? c.170+30C>T r.(=) p.(=) g.21985464C>T Copied from the Exome Variant Server SMS_000006 5588/10563 2291/6728 3297/3835
?/? c.171-48A>C r.(=) p.(=) g.21989967A>C Copied from the Exome Variant Server SMS_000007 3/10558 3/6724 0/3834
?/? c.171-40G>A r.(=) p.(=) g.21989975G>A Copied from the Exome Variant Server SMS_000008 1/10562 0/6727 1/3835
?/? c.171C>T r.(=) p.(=) g.21990015C>T Copied from the Exome Variant Server SMS_000009 1/10563 1/6728 0/3835
?/? c.264+3C>T r.spl? p.? g.21990111C>T Copied from the Exome Variant Server SMS_000010 2/10563 1/6728 1/3835
?/? c.264+27G>T r.(=) p.(=) g.21990135G>T Copied from the Exome Variant Server SMS_000011 1/10563 1/6728 0/3835
?/? c.329+36C>T r.(=) p.(=) g.21990725C>T Copied from the Exome Variant Server SMS_000012 3/10563 3/6728 0/3835
?/? c.330-47A>G r.(=) p.(=) g.21995132A>G Copied from the Exome Variant Server SMS_000013 7/10562 7/6727 0/3835
?/? c.330A>G r.(=) p.(=) g.21995179A>G Copied from the Exome Variant Server SMS_000014 8/10563 0/6728 8/3835
?/? c.505+41_505+52del r.(=) p.(=) g.21995395_21995406del Copied from the Exome Variant Server SMS_000015 1/10159 1/6468 0/3691
?/? c.528A>G r.(=) p.(=) g.21996100A>G Copied from the Exome Variant Server SMS_000016 1/10563 1/6728 0/3835
?/? c.535C>T r.(?) p.(Arg179Trp) g.21996107C>T Copied from the Exome Variant Server SMS_000017 1/10563 0/6728 1/3835
?/? c.561A>G r.(=) p.(=) g.21996133A>G Copied from the Exome Variant Server SMS_000018 6/10559 0/6724 6/3835
?/? c.585C>T r.(=) p.(=) g.21996157C>T Copied from the Exome Variant Server SMS_000019 1/10563 1/6728 0/3835
?/? c.603C>T r.(=) p.(=) g.21996175C>T Copied from the Exome Variant Server SMS_000020 1/10563 0/6728 1/3835
?/? c.660+24C>G r.(=) p.(=) g.21996256C>G Copied from the Exome Variant Server SMS_000021 3/10563 3/6728 0/3835
?/? c.661-5C>T r.spl? p.? g.21996990C>T Copied from the Exome Variant Server SMS_000022 1/10563 1/6728 0/3835
?/? c.751-41C>T r.(=) p.(=) g.22002381C>T Copied from the Exome Variant Server SMS_000023 2/10563 1/6728 1/3835
?/? c.816T>C r.(=) p.(=) g.22002487T>C Copied from the Exome Variant Server SMS_000024 1/10563 1/6728 0/3835
?/? c.843A>G r.(=) p.(=) g.22002514A>G Copied from the Exome Variant Server SMS_000025 7/10563 1/6728 6/3835
?/? c.852G>A r.(=) p.(=) g.22002523G>A Copied from the Exome Variant Server SMS_000026 3/10563 1/6728 2/3835
?/? c.865+12T>C r.(=) p.(=) g.22002548T>C Copied from the Exome Variant Server SMS_000027 2/10563 2/6728 0/3835
?/? c.865+26A>G r.(=) p.(=) g.22002562A>G Copied from the Exome Variant Server SMS_000028 19/10563 0/6728 19/3835
?/? c.865+29A>G r.(=) p.(=) g.22002565A>G Copied from the Exome Variant Server SMS_000029 5/10563 4/6728 1/3835
?/? c.865+52A>G r.(=) p.(=) g.22002588A>G Copied from the Exome Variant Server SMS_000031 2/6038 2/3621 0/2417
?/? c.866-32T>C r.(=) p.(=) g.22003230T>C Copied from the Exome Variant Server SMS_000033 896/10563 796/6728 100/3835
?/? c.936T>C r.(=) p.(=) g.22003332T>C Copied from the Exome Variant Server SMS_000035 1/10563 1/6728 0/3835
?/? c.945+43T>A r.(=) p.(=) g.22003384T>A Copied from the Exome Variant Server SMS_000037 2/10563 0/6728 2/3835
?/? c.966A>C r.(=) p.(=) g.22010735A>C Copied from the Exome Variant Server SMS_000039 1/10563 1/6728 0/3835
?/? c.978G>A r.(=) p.(=) g.22010747G>A Copied from the Exome Variant Server SMS_000030 3/10563 0/6728 3/3835
?/? c.1000C>T r.(?) p.(Arg334Cys) g.22010769C>T Copied from the Exome Variant Server SMS_000032 1/10563 1/6728 0/3835
?/? c.1009T>C r.(?) p.(Cys337Arg) g.22010778T>C Copied from the Exome Variant Server SMS_000034 1/10563 1/6728 0/3835
?/? c.1026A>C r.(=) p.(=) g.22010795A>C Copied from the Exome Variant Server SMS_000036 64/10563 59/6728 5/3835
?/? c.1036G>A r.(?) p.(Val346Ile) g.22010805G>A Copied from the Exome Variant Server SMS_000038 1/10563 1/6728 0/3835
?/? c.1061+13C>T r.(=) p.(=) g.22010843C>T Copied from the Exome Variant Server SMS_000040 2/10563 1/6728 1/3835
?/? c.1061+14G>A r.(=) p.(=) g.22010844G>A Copied from the Exome Variant Server SMS_000041 1/10563 1/6728 0/3835
?/? c.1061+39C>A r.(=) p.(=) g.22010869C>A Copied from the Exome Variant Server SMS_000042 2/10563 0/6728 2/3835
?/? c.1062-76_1062-75insG r.(=) p.(=) g.22012354_22012355insG Copied from the Exome Variant Server SMS_000043 1/10203 0/6484 1/3719
?/? c.1062-55G>A r.(=) p.(=) g.22012375G>A Copied from the Exome Variant Server SMS_000044 1/3600 1/2391 0/1209
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