Unique variants in gene RAB40AL

Information The variants shown are described using the NM_001031834.1 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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.-14G>A r.(=) p.(=) g.102192233G>A Copied from the Exome Variant Server RAB40AL_000001 1/10543 1/6715 0/3828
1 c.-12G>A r.(=) p.(=) g.102192235G>A Copied from the Exome Variant Server RAB40AL_000002 206/10553 0/6722 206/3831
1 c.-7C>T r.(=) p.(=) g.102192240C>T Copied from the Exome Variant Server RAB40AL_000003 1/10557 0/6724 1/3833
1 c.15C>T r.(=) p.(=) g.102192261C>T Copied from the Exome Variant Server RAB40AL_000004 61/10563 51/6728 10/3835
1 c.33C>T r.(=) p.(=) g.102192279C>T Copied from the Exome Variant Server RAB40AL_000005 1/10563 0/6728 1/3835
1 c.47A>G r.(?) p.(Lys16Arg) g.102192293A>G Copied from the Exome Variant Server RAB40AL_000006 1/10563 0/6728 1/3835
1 c.55C>T r.(=) p.(=) g.102192301C>T Copied from the Exome Variant Server RAB40AL_000007 1410/10563 36/6728 1374/3835
1 c.57G>T r.(=) p.(=) g.102192303G>T Copied from the Exome Variant Server RAB40AL_000008 9/10563 0/6728 9/3835
1 c.58G>A r.(?) p.(Val20Met) g.102192304G>A Copied from the Exome Variant Server RAB40AL_000009 1/10563 0/6728 1/3835
1 c.64G>C r.(?) p.(Asp22His) g.102192310G>C Copied from the Exome Variant Server RAB40AL_000010 2/10563 1/6728 1/3835
1 c.69G>C r.(?) p.(Arg23Ser) g.102192315G>C Copied from the Exome Variant Server RAB40AL_000011 1677/10563 31/6728 1646/3835
1 c.72C>T r.(=) p.(=) g.102192318C>T Copied from the Exome Variant Server RAB40AL_000012 1/10562 1/6727 0/3835
1 c.74T>C r.(?) p.(Val25Ala) g.102192320T>C Copied from the Exome Variant Server RAB40AL_000013 1/10558 1/6726 0/3832
1 c.75A>G r.(=) p.(=) g.102192321A>G Copied from the Exome Variant Server RAB40AL_000014 1478/10556 26/6727 1452/3829
1 c.82A>G r.(?) p.(Ser28Gly) g.102192328A>G Copied from the Exome Variant Server RAB40AL_000015 1356/10561 24/6728 1332/3833
1 c.84T>C r.(=) p.(=) g.102192330T>C Copied from the Exome Variant Server RAB40AL_000016 1532/10562 31/6728 1501/3834
1 c.109G>A r.(?) p.(Gly37Ser) g.102192355G>A Copied from the Exome Variant Server RAB40AL_000017 1/10563 0/6728 1/3835
1 c.114G>A r.(=) p.(=) g.102192360G>A Copied from the Exome Variant Server RAB40AL_000018 2/10563 1/6728 1/3835
1 c.126G>A r.(=) p.(=) g.102192372G>A Copied from the Exome Variant Server RAB40AL_000019 213/10563 0/6728 213/3835
1 c.176A>G r.(?) p.(Asp59Gly) g.102192422A>G Copied from the Exome Variant Server RAB40AL_000020 2/10563 2/6728 0/3835
1 c.177C>A r.(?) p.(Asp59Glu) g.102192423C>A Copied from the Exome Variant Server RAB40AL_000021 1/10563 1/6728 0/3835
1 c.212C>T r.(?) p.(Ser71Leu) g.102192458C>T Copied from the Exome Variant Server RAB40AL_000022 2/10558 0/6723 2/3835
1 c.234C>T r.(=) p.(=) g.102192480C>T Copied from the Exome Variant Server RAB40AL_000023 1/10526 0/6693 1/3833
1 c.257G>A r.(?) p.(Gly86Asp) g.102192503G>A Copied from the Exome Variant Server RAB40AL_000024 25/10525 0/6692 25/3833
1 c.258T>C r.(=) p.(=) g.102192504T>C Copied from the Exome Variant Server RAB40AL_000025 1/10525 1/6692 0/3833
1 c.282C>T r.(=) p.(=) g.102192528C>T Copied from the Exome Variant Server RAB40AL_000026 14/10524 8/6691 6/3833
1 c.285C>T r.(=) p.(=) g.102192531C>T Copied from the Exome Variant Server RAB40AL_000027 1/10526 1/6693 0/3833
1 c.296G>A r.(?) p.(Arg99His) g.102192542G>A Copied from the Exome Variant Server RAB40AL_000028 1/10522 1/6689 0/3833
1 c.366C>G r.(?) p.(Ile122Met) g.102192612C>G Copied from the Exome Variant Server RAB40AL_000029 1/10399 1/6625 0/3774
1 c.379C>T r.(?) p.(Arg127Cys) g.102192625C>T Copied from the Exome Variant Server RAB40AL_000030 2/10452 0/6659 2/3793
1 c.418C>A r.(?) p.(Gln140Lys) g.102192664C>A Copied from the Exome Variant Server RAB40AL_000031 1/10559 1/6728 0/3831
1 c.466A>G r.(?) p.(Ser156Gly) g.102192712A>G Copied from the Exome Variant Server RAB40AL_000032 1/10559 0/6724 1/3835
1 c.519A>G r.(?) p.(Ile173Met) g.102192765A>G Copied from the Exome Variant Server RAB40AL_000033 1/10563 1/6728 0/3835
1 c.556C>A r.(?) p.(Pro186Thr) g.102192802C>A Copied from the Exome Variant Server RAB40AL_000034 1/10563 0/6728 1/3835
1 c.598A>G r.(?) p.(Ile200Val) g.102192844A>G Copied from the Exome Variant Server RAB40AL_000035 1/10559 1/6724 0/3835
1 c.634C>T r.(?) p.(Leu212Phe) g.102192880C>T Copied from the Exome Variant Server RAB40AL_000036 1/10563 1/6728 0/3835
1 c.639G>A r.(=) p.(=) g.102192885G>A Copied from the Exome Variant Server RAB40AL_000037 213/10563 0/6728 213/3835
1 c.660C>G r.(?) p.(Ser220Arg) g.102192906C>G Copied from the Exome Variant Server RAB40AL_000038 6/10563 6/6728 0/3835
1 c.662A>C r.(?) p.(His221Pro) g.102192908A>C Copied from the Exome Variant Server RAB40AL_000039 4/10563 0/6728 4/3835
1 c.700A>G r.(?) p.(Arg234Gly) g.102192946A>G Copied from the Exome Variant Server RAB40AL_000040 11/10558 0/6723 11/3835
1 c.720C>T r.(=) p.(=) g.102192966C>T Copied from the Exome Variant Server RAB40AL_000041 1/10563 1/6728 0/3835
1 c.759C>G r.(?) p.(Ser253Arg) g.102193005C>G Copied from the Exome Variant Server RAB40AL_000042 1/10563 0/6728 1/3835
1 c.761T>C r.(?) p.(Leu254Pro) g.102193007T>C Copied from the Exome Variant Server RAB40AL_000043 1/10563 1/6728 0/3835
1 c.762C>G r.(=) p.(=) g.102193008C>G Copied from the Exome Variant Server RAB40AL_000044 1/10563 0/6728 1/3835
1 c.774G>C r.(?) p.(Lys258Asn) g.102193020G>C Copied from the Exome Variant Server RAB40AL_000045 1/10563 0/6728 1/3835
1 c.775A>G r.(?) p.(Ile259Val) g.102193021A>G Copied from the Exome Variant Server RAB40AL_000046 48/10563 3/6728 45/3835
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