All transcript variants in gene RAB41

Information The variants shown are described using the NM_001032726.2 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-14A>G r.(=) p.(=) g.69502054A>G Copied from the Exome Variant Server RAB41_000001 7728/10563 5822/6728 1906/3835
?/? c.64G>A r.(?) p.(Glu22Lys) g.69502131G>A Copied from the Exome Variant Server RAB41_000002 1/10563 0/6728 1/3835
?/? c.112G>A r.(?) p.(Gly38Arg) g.69502179G>A Copied from the Exome Variant Server RAB41_000003 3/10563 0/6728 3/3835
?/? c.124G>A r.(?) p.(Gly42Arg) g.69502191G>A Copied from the Exome Variant Server RAB41_000004 1/10563 1/6728 0/3835
?/? c.124+7G>A r.(=) p.(=) g.69502198G>A Copied from the Exome Variant Server RAB41_000005 1/10563 1/6728 0/3835
?/? c.124+17G>A r.(=) p.(=) g.69502208G>A Copied from the Exome Variant Server RAB41_000006 2/10563 2/6728 0/3835
?/? c.124+29A>G r.(=) p.(=) g.69502220A>G Copied from the Exome Variant Server RAB41_000007 4/10563 0/6728 4/3835
?/? c.125-54G>C r.(=) p.(=) g.69502332G>C Copied from the Exome Variant Server RAB41_000009 1/10563 1/6728 0/3835
?/? c.125-53G>T r.(=) p.(=) g.69502333G>T Copied from the Exome Variant Server RAB41_000011 1/10563 0/6728 1/3835
?/? c.125-51G>A r.(=) p.(=) g.69502335G>A Copied from the Exome Variant Server RAB41_000013 6/10563 0/6728 6/3835
?/? c.125-45G>C r.(=) p.(=) g.69502341G>C Copied from the Exome Variant Server RAB41_000015 1/10563 0/6728 1/3835
?/? c.125-27T>C r.(=) p.(=) g.69502359T>C Copied from the Exome Variant Server RAB41_000017 1/10563 1/6728 0/3835
?/? c.125-1G>C r.spl? p.? g.69502385G>C Copied from the Exome Variant Server RAB41_000019 1/10563 1/6728 0/3835
?/? c.129G>T r.(?) p.(Lys43Asn) g.69502390G>T Copied from the Exome Variant Server RAB41_000021 1/10563 0/6728 1/3835
?/? c.146G>A r.(?) p.(Arg49His) g.69502407G>A Copied from the Exome Variant Server RAB41_000008 1/10563 0/6728 1/3835
?/? c.159C>T r.(=) p.(=) g.69502420C>T Copied from the Exome Variant Server RAB41_000010 1/10563 0/6728 1/3835
?/? c.165C>T r.(=) p.(=) g.69502426C>T Copied from the Exome Variant Server RAB41_000012 1/10563 1/6728 0/3835
?/? c.173C>T r.(?) p.(Ala58Val) g.69502434C>T Copied from the Exome Variant Server RAB41_000014 2/10563 0/6728 2/3835
?/? c.180+37C>T r.(=) p.(=) g.69502478C>T Copied from the Exome Variant Server RAB41_000016 1587/10563 311/6728 1276/3835
?/? c.180+38A>G r.(=) p.(=) g.69502479A>G Copied from the Exome Variant Server RAB41_000018 9862/10563 6153/6728 3709/3835
?/? c.180+45T>C r.(=) p.(=) g.69502486T>C Copied from the Exome Variant Server RAB41_000020 1/10563 1/6728 0/3835
?/? c.180+49C>T r.(=) p.(=) g.69502490C>T Copied from the Exome Variant Server RAB41_000022 1/10563 0/6728 1/3835
?/? c.181-44del r.(=) p.(=) g.69502608del Copied from the Exome Variant Server RAB41_000023 8/10205 7/6484 1/3721
?/? c.234+10A>T r.(=) p.(=) g.69502715A>T Copied from the Exome Variant Server RAB41_000024 3/10563 0/6728 3/3835
?/? c.234+23C>T r.(=) p.(=) g.69502728C>T Copied from the Exome Variant Server RAB41_000025 1/10563 1/6728 0/3835
?/? c.235-51T>C r.(=) p.(=) g.69503067T>C Copied from the Exome Variant Server RAB41_000026 1/10563 1/6728 0/3835
?/? c.235-45C>T r.(=) p.(=) g.69503073C>T Copied from the Exome Variant Server RAB41_000027 1/10563 0/6728 1/3835
?/? c.235-1G>C r.spl? p.? g.69503117G>C Copied from the Exome Variant Server RAB41_000028 1/10563 1/6728 0/3835
?/? c.271C>T r.(?) p.(Arg91Cys) g.69503154C>T Copied from the Exome Variant Server RAB41_000029 1/10563 0/6728 1/3835
?/? c.381C>T r.(=) p.(=) g.69503403C>T Copied from the Exome Variant Server RAB41_000030 1/10563 1/6728 0/3835
?/? c.402C>T r.(=) p.(=) g.69503424C>T Copied from the Exome Variant Server RAB41_000031 1/10563 1/6728 0/3835
?/? c.412A>G r.(?) p.(Ile138Val) g.69503434A>G Copied from the Exome Variant Server RAB41_000032 1/10563 1/6728 0/3835
?/? c.452+18_452+20del r.(=) p.(=) g.69503492_69503494del Copied from the Exome Variant Server RAB41_000033 1/10205 1/6484 0/3721
?/? c.453-6G>A r.(=) p.(=) g.69503794G>A Copied from the Exome Variant Server RAB41_000034 4/10563 4/6728 0/3835
?/? c.480A>C r.(?) p.(Glu160Asp) g.69503827A>C Copied from the Exome Variant Server RAB41_000035 1/10563 1/6728 0/3835
?/? c.528C>T r.(=) p.(=) g.69503875C>T Copied from the Exome Variant Server RAB41_000036 8/10563 7/6728 1/3835
?/? c.532T>C r.(?) p.(Tyr178His) g.69503879T>C Copied from the Exome Variant Server RAB41_000038 1/10563 0/6728 1/3835
?/? c.537C>T r.(=) p.(=) g.69503884C>T Copied from the Exome Variant Server RAB41_000041 3/10563 0/6728 3/3835
?/? c.546+11_546+14del r.(=) p.(=) g.69503904_69503907del Copied from the Exome Variant Server RAB41_000043 3/10205 3/6484 0/3721
?/? c.547-43_547-42insC r.(=) p.(=) g.69504073_69504074insC Copied from the Exome Variant Server RAB41_000037 7006/10175 5338/6473 1668/3702
?/? c.553C>T r.(?) p.(Arg185Trp) g.69504122C>T Copied from the Exome Variant Server RAB41_000039 1/10563 1/6728 0/3835
?/? c.561G>C r.(=) p.(=) g.69504130G>C Copied from the Exome Variant Server RAB41_000040 8/10563 8/6728 0/3835
?/? c.581C>T r.(?) p.(Thr194Ile) g.69504150C>T Copied from the Exome Variant Server RAB41_000042 1/10563 1/6728 0/3835
?/? c.594T>C r.(=) p.(=) g.69504163T>C Copied from the Exome Variant Server RAB41_000044 1/10563 1/6728 0/3835
?/? c.611-35C>T r.(=) p.(=) g.69504403C>T Copied from the Exome Variant Server RAB41_000045 1/10563 1/6728 0/3835
?/? c.612del r.(?) p.(Val205Leufs*27) g.69504439del Copied from the Exome Variant Server RAB41_000046 245/10205 105/6484 140/3721
?/? c.622G>A r.(?) p.(Glu208Lys) g.69504449G>A Copied from the Exome Variant Server RAB41_000047 3/10563 0/6728 3/3835
?/? c.*4C>T r.(=) p.(=) g.69504497C>T Copied from the Exome Variant Server RAB41_000048 1/10563 1/6728 0/3835
?/? c.*43T>A r.(=) p.(=) g.69504536T>A Copied from the Exome Variant Server RAB41_000049 267/10563 1/6728 266/3835
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