Unique variants in gene RLIM

Information The variants shown are described using the NM_016120.3 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.-23-12_-23-11del r.(=) p.(=) g.73815846_73815847del Copied from the Exome Variant Server RLIM_000042 12/10198 11/6479 1/3719
1 c.-23-10_-23-6del r.(=) p.(=) g.73815841_73815845del Copied from the Exome Variant Server RLIM_000041 9/10202 8/6481 1/3721
1 c.66G>A r.(=) p.(=) g.73815747C>T Copied from the Exome Variant Server RLIM_000040 169/10563 0/6728 169/3835
1 c.105T>C r.(=) p.(=) g.73815708A>G Copied from the Exome Variant Server RLIM_000039 23/10563 23/6728 0/3835
1 c.170-39C>T r.(=) p.(=) g.73814263G>A Copied from the Exome Variant Server RLIM_000038 45/10561 41/6726 4/3835
1 c.170-37C>T r.(=) p.(=) g.73814261G>A Copied from the Exome Variant Server RLIM_000037 1/10563 1/6728 0/3835
1 c.186A>G r.(=) p.(=) g.73814208T>C Copied from the Exome Variant Server RLIM_000036 1/10563 0/6728 1/3835
1 c.196A>C r.(=) p.(=) g.73814198T>G Copied from the Exome Variant Server RLIM_000035 1/10563 1/6728 0/3835
1 c.240A>C r.(=) p.(=) g.73814154T>G Copied from the Exome Variant Server RLIM_000034 148/10563 5/6728 143/3835
1 c.253+47G>C r.(=) p.(=) g.73814094C>G Copied from the Exome Variant Server RLIM_000033 1/10560 0/6727 1/3833
1 c.254-41_254-39del r.(=) p.(=) g.73812935_73812937del Copied from the Exome Variant Server RLIM_000032 3/10146 1/6444 2/3702
1 c.327A>C r.(=) p.(=) g.73812823T>G Copied from the Exome Variant Server RLIM_000031 3/10558 0/6723 3/3835
1 c.380G>A r.(?) p.(Arg127Gln) g.73812770C>T Copied from the Exome Variant Server RLIM_000030 1/10563 0/6728 1/3835
1 c.484C>T r.(?) p.(Arg162Cys) g.73812666G>A Copied from the Exome Variant Server RLIM_000029 1/10558 0/6723 1/3835
1 c.485G>A r.(?) p.(Arg162His) g.73812665C>T Copied from the Exome Variant Server RLIM_000028 1/10558 1/6723 0/3835
1 c.502G>A r.(?) p.(Val168Met) g.73812648C>T Copied from the Exome Variant Server RLIM_000027 1/10556 1/6721 0/3835
1 c.508A>G r.(?) p.(Asn170Asp) g.73812642T>C Copied from the Exome Variant Server RLIM_000026 1/10538 0/6705 1/3833
1 c.533A>C r.(?) p.(Asn178Thr) g.73812617T>G Copied from the Exome Variant Server RLIM_000025 24/10558 22/6723 2/3835
1 c.539G>T r.(?) p.(Arg180Leu) g.73812611C>A Copied from the Exome Variant Server RLIM_000024 1/10558 1/6723 0/3835
1 c.549A>C r.(=) p.(=) g.73812601T>G Copied from the Exome Variant Server RLIM_000023 1/10559 0/6724 1/3835
1 c.719G>A r.(?) p.(Arg240Gln) g.73812431C>T Copied from the Exome Variant Server RLIM_000022 1/10563 1/6728 0/3835
1 c.777G>A r.(=) p.(=) g.73812373C>T Copied from the Exome Variant Server RLIM_000021 74/10563 69/6728 5/3835
1 c.933A>T r.(=) p.(=) g.73812217T>A Copied from the Exome Variant Server RLIM_000020 4/10563 4/6728 0/3835
1 c.1131C>G r.(=) p.(=) g.73812019G>C Copied from the Exome Variant Server RLIM_000019 1/10563 1/6728 0/3835
1 c.1176T>G r.(=) p.(=) g.73811974A>C Copied from the Exome Variant Server RLIM_000018 2/10563 0/6728 2/3835
1 c.1194A>G r.(=) p.(=) g.73811956T>C Copied from the Exome Variant Server RLIM_000017 2/10563 2/6728 0/3835
1 c.1272C>T r.(=) p.(=) g.73811878G>A Copied from the Exome Variant Server RLIM_000016 1/10563 1/6728 0/3835
1 c.1296C>G r.(=) p.(=) g.73811854G>C Copied from the Exome Variant Server RLIM_000015 1/10562 1/6727 0/3835
1 c.1377G>C r.(=) p.(=) g.73811773C>G Copied from the Exome Variant Server RLIM_000014 1/10563 0/6728 1/3835
1 c.1394_1395insCAGTTC r.(?) p.(Ser475_Ser476dup) g.73811755_73811756insGAACTG Copied from the Exome Variant Server RLIM_000013 35/10202 1/6482 34/3720
1 c.1395G>A r.(=) p.(=) g.73811755C>T Copied from the Exome Variant Server RLIM_000012 820/10563 112/6728 708/3835
1 c.1407_1412del r.(?) p.(Ser475_Ser476del) g.73811738_73811743del Copied from the Exome Variant Server RLIM_000011 2/10205 0/6484 2/3721
1 c.1413A>G r.(=) p.(=) g.73811737T>C Copied from the Exome Variant Server RLIM_000010 1/10563 0/6728 1/3835
1 c.1421G>A r.(?) p.(Ser474Asn) g.73811729C>T Copied from the Exome Variant Server RLIM_000009 1/10563 1/6728 0/3835
1 c.1443C>T r.(=) p.(=) g.73811707G>A Copied from the Exome Variant Server RLIM_000008 1/10563 1/6728 0/3835
1 c.1665C>T r.(=) p.(=) g.73811485G>A Copied from the Exome Variant Server RLIM_000007 3/10563 2/6728 1/3835
1 c.1767C>G r.(=) p.(=) g.73811383G>C Copied from the Exome Variant Server RLIM_000006 1/10563 0/6728 1/3835
1 c.1830T>C r.(=) p.(=) g.73811320A>G Copied from the Exome Variant Server RLIM_000005 1/10559 1/6724 0/3835
1 c.1833C>T r.(=) p.(=) g.73811317G>A Copied from the Exome Variant Server RLIM_000004 1/10558 0/6723 1/3835
1 c.*22A>G r.(=) p.(=) g.73811253T>C Copied from the Exome Variant Server RLIM_000003 4/10563 0/6728 4/3835
1 c.*34T>C r.(=) p.(=) g.73811241A>G Copied from the Exome Variant Server RLIM_000002 1/10563 1/6728 0/3835
1 c.*51G>T r.(=) p.(=) g.73811224C>A Copied from the Exome Variant Server RLIM_000001 1/10561 0/6728 1/3833
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