Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.45480149_45480152dup | CA2174091846 | SLC30A4 | c.*5012_*5015dup (n.*5012_*5015dup) | dbSNP |
15 | g.45480151_45480152delinsCT | CA2174091849 | SLC30A4 | c.*5011_*5012delinsAG (n.*5011_*5012delinsAG) | |
15 | g.45480152del | CA713150262 | SLC30A4 | c.*5011del (n.*5011del) | dbSNP |
15 | g.45480153G>A | CA2174091851 | SLC30A4 | c.*5010C>T (n.*5010C>T) | dbSNP |
15 | g.45480153G= | CA2174091850 | SLC30A4 | c.*5010C= (n.*5010C=) | |
15 | g.45480157A= | CA2174091852 | SLC30A4 | c.*5006T= (n.*5006T=) | |
15 | g.45480157_45480158insGATACTGT | CA2174091853 | SLC30A4 | c.*5005_*5006insACAGTATC (n.*5005_*5006insACAGTATC) | dbSNP |
15 | g.45480158A= | CA2174091854 | SLC30A4 | c.*5005T= (n.*5005T=) | |
15 | g.45480158A>C | CA270169427 | SLC30A4 | c.*5005T>G (n.*5005T>G) | dbSNP |
15 | g.45480160T= | CA2174091855 | SLC30A4 | c.*5003A= (n.*5003A=) | |
15 | g.45480161dup | CA2174091856 | SLC30A4 | c.*5002dup (n.*5002dup) | dbSNP |
15 | g.45480165A>G | CA2628278762 | SLC30A4 | c.*4998T>C (n.*4998T>C) | gnomAD v4 |
15 | g.45480166T>C | CA2174091858 | SLC30A4 | c.*4997A>G (n.*4997A>G) | dbSNP |
15 | g.45480166T= | CA2174091859 | SLC30A4 | c.*4997A= (n.*4997A=) | |
15 | g.45480166_45480167delinsTA | CA2174091857 | SLC30A4 | c.*4996_*4997delinsTA (n.*4996_*4997delinsTA) | |
15 | g.45480169del | CA969344917 | SLC30A4 | c.*4996del (n.*4996del) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.45480172T>C | CA270169433 | SLC30A4 | c.*4991A>G (n.*4991A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.45480172T= | CA2174091860 | SLC30A4 | c.*4991A= (n.*4991A=) | |
15 | g.45480177C= | CA2174091861 | SLC30A4 | c.*4986G= (n.*4986G=) | |
15 | g.45480177C>T | CA2174091862 | SLC30A4 | c.*4986G>A (n.*4986G>A) | dbSNP |
15 | g.45480179A= | CA2174091863 | SLC30A4 | c.*4984T= (n.*4984T=) | |
15 | g.45480179A>G | CA270169441 | SLC30A4 | c.*4984T>C (n.*4984T>C) | dbSNP |
15 | g.45480180T>C | CA713150270 | SLC30A4 | c.*4983A>G (n.*4983A>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.45480180T= | CA2174091864 | SLC30A4 | c.*4983A= (n.*4983A=) | |
15 | g.45480183T= | CA2174091865 | SLC30A4 | c.*4980A= (n.*4980A=) | |
15 | g.45480184A>G | CA2628278767 | SLC30A4 | c.*4979T>C (n.*4979T>C) | gnomAD v4 |
15 | g.45480185_45480187dup | CA713150275 | SLC30A4 | c.*4977_*4979dup (n.*4977_*4979dup) | dbSNP |
15 | g.45480185T>A | CA2174091867 | SLC30A4 | c.*4978A>T (n.*4978A>T) | dbSNP |
15 | g.45480185T= | CA2174091866 | SLC30A4 | c.*4978A= (n.*4978A=) | |
15 | g.45480188A= | CA2174091868 | SLC30A4 | c.*4975T= (n.*4975T=) | |
15 | g.45480188A>G | CA969344923 | SLC30A4 | c.*4975T>C (n.*4975T>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.45480190_45480191insGAAACATGTTCACTAATTTCAGTATTTCCTTTTAGATAGCGGAATTTCATATCTGAGCCAAAGTTTCCATCTCCTCTATTCGTTCCATCTGTTGTTGTTAAATAGTAATTTGGATCTAAGCTTTG | CA2525919885 | SLC30A4 | c.*4972_*4973insCAAAGCTTAGATCCAAATTACTATTTAACAACAACAGATGGAACGAATAGAGGAGATGGAAACTTTGGCTCAGATATGAAATTCCGCTATCTAAAAGGAAATACTGAAATTAGTGAACATGTTTC (n.*4972_*4973insCAAAGCTTAGATCCAAATTACTATTTAACAACAACAGATGGAACGAATAGAGGAGATGGAAACTTTGGCTCAGATATGAAATTCCGCTATCTAAAAGGAAATACTGAAATTAGTGAACATGTTTC) | |
15 | g.45480192G>T | CA2730774673 | SLC30A4 | c.*4971C>A (n.*4971C>A) | dbSNP |
15 | g.45480192_45480193delinsGC | CA2174091869 | SLC30A4 | c.*4970_*4971delinsGC (n.*4970_*4971delinsGC) | |
15 | g.45480193del | CA270169447 | SLC30A4 | c.*4970del (n.*4970del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.45480201T>C | CA2730774721 | SLC30A4 | c.*4962A>G (n.*4962A>G) | dbSNP |
15 | g.45480202C>A | CA2628278772 | SLC30A4 | c.*4961G>T (n.*4961G>T) | gnomAD v4 |
15 | g.45480211T>C | CA270169448 | SLC30A4 | c.*4952A>G (n.*4952A>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.45480211T= | CA2174091870 | SLC30A4 | c.*4952A= (n.*4952A=) | |
15 | g.45480213G>A | CA270169449 | SLC30A4 | c.*4950C>T (n.*4950C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.45480213G= | CA2174091871 | SLC30A4 | c.*4950C= (n.*4950C=) | |
15 | g.45480214G= | CA2174091872 | SLC30A4 | c.*4949C= (n.*4949C=) | |
15 | g.45480214G>T | CA2174091873 | SLC30A4 | c.*4949C>A (n.*4949C>A) | dbSNP |
15 | g.45480219G>A | CA2628278774 | SLC30A4 | c.*4944C>T (n.*4944C>T) | gnomAD v4 |
15 | g.45480219G>T | CA2628278775 | SLC30A4 | c.*4944C>A (n.*4944C>A) | gnomAD v4 |
15 | g.45480222G>T | CA2628278777 | SLC30A4 | c.*4941C>A (n.*4941C>A) | gnomAD v4 |
15 | g.45480225T>C | CA2628278779 | SLC30A4 | c.*4938A>G (n.*4938A>G) | gnomAD v4 |
15 | g.45480227A= | CA2174091874 | SLC30A4 | c.*4936T= (n.*4936T=) | |
15 | g.45480227A>G | CA713150285 | SLC30A4 | c.*4936T>C (n.*4936T>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.45480228A>G | CA2628278781 | SLC30A4 | c.*4935T>C (n.*4935T>C) | gnomAD v4 |