Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.16006517_16006519delinsCAG | CA1440916625 | PROM1 | c.1454+19_1454+21delinsCTG (n.1454+19_1454+21delinsCTG) c.*1137+19_*1137+21delinsCTG (n.*1137+19_*1137+21delinsCTG) c.1427+19_1427+21delinsCTG (n.1427+19_1427+21delinsCTG) c.1512+19_1512+21delinsCTG c.1220+19_1220+21delinsCTG (n.1220+19_1220+21delinsCTG) c.1247+19_1247+21delinsCTG (n.1247+19_1247+21delinsCTG) c.1181+19_1181+21delinsCTG (n.1181+19_1181+21delinsCTG) | |
4 | g.16006518A>G | CA2670099856 | PROM1 | c.1454+20T>C (n.1454+20T>C) c.*1137+20T>C (n.*1137+20T>C) c.1427+20T>C (n.1427+20T>C) c.1512+20T>C c.1220+20T>C (n.1220+20T>C) c.1247+20T>C (n.1247+20T>C) c.1181+20T>C (n.1181+20T>C) | gnomAD v4 |
4 | g.16006522_16006523del | CA2866764 | PROM1 | c.1454+19_1454+20del (n.1454+19_1454+20del) c.*1137+19_*1137+20del (n.*1137+19_*1137+20del) c.1427+19_1427+20del (n.1427+19_1427+20del) c.1512+19_1512+20del c.1220+19_1220+20del (n.1220+19_1220+20del) c.1247+19_1247+20del (n.1247+19_1247+20del) c.1181+19_1181+20del (n.1181+19_1181+20del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.16006519G>A | CA2670099859 | PROM1 | c.1454+19C>T (n.1454+19C>T) c.*1137+19C>T (n.*1137+19C>T) c.1427+19C>T (n.1427+19C>T) c.1512+19C>T c.1220+19C>T (n.1220+19C>T) c.1247+19C>T (n.1247+19C>T) c.1181+19C>T (n.1181+19C>T) | gnomAD v4 |
4 | g.16006519G>C | CA1440916629 | PROM1 | c.1454+19C>G (n.1454+19C>G) c.*1137+19C>G (n.*1137+19C>G) c.1427+19C>G (n.1427+19C>G) c.1512+19C>G c.1220+19C>G (n.1220+19C>G) c.1247+19C>G (n.1247+19C>G) c.1181+19C>G (n.1181+19C>G) | dbSNP gnomAD v4 |
4 | g.16006519G= | CA1440916628 | PROM1 | c.1454+19C= (n.1454+19C=) c.*1137+19C= (n.*1137+19C=) c.1427+19C= (n.1427+19C=) c.1512+19C= c.1220+19C= (n.1220+19C=) c.1247+19C= (n.1247+19C=) c.1181+19C= (n.1181+19C=) | |
4 | g.16006519G>T | CA2670099860 | PROM1 | c.1454+19C>A (n.1454+19C>A) c.*1137+19C>A (n.*1137+19C>A) c.1427+19C>A (n.1427+19C>A) c.1512+19C>A c.1220+19C>A (n.1220+19C>A) c.1247+19C>A (n.1247+19C>A) c.1181+19C>A (n.1181+19C>A) | gnomAD v4 |
4 | g.16006520A= | CA1440916630 | PROM1 | c.1454+18T= (n.1454+18T=) c.*1137+18T= (n.*1137+18T=) c.1427+18T= (n.1427+18T=) c.1512+18T= c.1220+18T= (n.1220+18T=) c.1247+18T= (n.1247+18T=) c.1181+18T= (n.1181+18T=) | |
4 | g.16006520A>G | CA2670099864 | PROM1 | c.1454+18T>C (n.1454+18T>C) c.*1137+18T>C (n.*1137+18T>C) c.1427+18T>C (n.1427+18T>C) c.1512+18T>C c.1220+18T>C (n.1220+18T>C) c.1247+18T>C (n.1247+18T>C) c.1181+18T>C (n.1181+18T>C) | gnomAD v4 |
4 | g.16006520A>T | CA2866765 | PROM1 | c.1454+18T>A (n.1454+18T>A) c.*1137+18T>A (n.*1137+18T>A) c.1427+18T>A (n.1427+18T>A) c.1512+18T>A c.1220+18T>A (n.1220+18T>A) c.1247+18T>A (n.1247+18T>A) c.1181+18T>A (n.1181+18T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.16006521G>A | CA2670099866 | PROM1 | c.1454+17C>T (n.1454+17C>T) c.*1137+17C>T (n.*1137+17C>T) c.1427+17C>T (n.1427+17C>T) c.1512+17C>T c.1220+17C>T (n.1220+17C>T) c.1247+17C>T (n.1247+17C>T) c.1181+17C>T (n.1181+17C>T) | gnomAD v4 |
4 | g.16006521G>T | CA2670099867 | PROM1 | c.1454+17C>A (n.1454+17C>A) c.*1137+17C>A (n.*1137+17C>A) c.1427+17C>A (n.1427+17C>A) c.1512+17C>A c.1220+17C>A (n.1220+17C>A) c.1247+17C>A (n.1247+17C>A) c.1181+17C>A (n.1181+17C>A) | gnomAD v4 |
4 | g.16006522A= | CA1440916631 | PROM1 | c.1454+16T= (n.1454+16T=) c.*1137+16T= (n.*1137+16T=) c.1427+16T= (n.1427+16T=) c.1512+16T= c.1220+16T= (n.1220+16T=) c.1247+16T= (n.1247+16T=) c.1181+16T= (n.1181+16T=) | |
4 | g.16006522A>G | CA1440916632 | PROM1 | c.1454+16T>C (n.1454+16T>C) c.*1137+16T>C (n.*1137+16T>C) c.1427+16T>C (n.1427+16T>C) c.1512+16T>C c.1220+16T>C (n.1220+16T>C) c.1247+16T>C (n.1247+16T>C) c.1181+16T>C (n.1181+16T>C) | dbSNP |
4 | g.16006522_16006539dup | CA2670099868 | PROM1 | c.1453_1454+16dup c.*1136_*1137+16dup c.1426_1427+16dup c.1511_1512+16dup c.1219_1220+16dup c.1246_1247+16dup c.1180_1181+16dup | gnomAD v4 |
4 | g.16006523G>A | CA2670099871 | PROM1 | c.1454+15C>T (n.1454+15C>T) c.*1137+15C>T (n.*1137+15C>T) c.1427+15C>T (n.1427+15C>T) c.1512+15C>T c.1220+15C>T (n.1220+15C>T) c.1247+15C>T (n.1247+15C>T) c.1181+15C>T (n.1181+15C>T) | gnomAD v4 |
4 | g.16006523G>T | CA2670099872 | PROM1 | c.1454+15C>A (n.1454+15C>A) c.*1137+15C>A (n.*1137+15C>A) c.1427+15C>A (n.1427+15C>A) c.1512+15C>A c.1220+15C>A (n.1220+15C>A) c.1247+15C>A (n.1247+15C>A) c.1181+15C>A (n.1181+15C>A) | gnomAD v4 |
4 | g.16006524G>A | CA2578049736 | PROM1 | c.1454+14C>T (n.1454+14C>T) c.*1137+14C>T (n.*1137+14C>T) c.1427+14C>T (n.1427+14C>T) c.1512+14C>T c.1220+14C>T (n.1220+14C>T) c.1247+14C>T (n.1247+14C>T) c.1181+14C>T (n.1181+14C>T) | |
4 | g.16006524G>T | CA2670099874 | PROM1 | c.1454+14C>A (n.1454+14C>A) c.*1137+14C>A (n.*1137+14C>A) c.1427+14C>A (n.1427+14C>A) c.1512+14C>A c.1220+14C>A (n.1220+14C>A) c.1247+14C>A (n.1247+14C>A) c.1181+14C>A (n.1181+14C>A) | gnomAD v4 |
4 | g.16006525A>T | CA2670099878 | PROM1 | c.1454+13T>A (n.1454+13T>A) c.*1137+13T>A (n.*1137+13T>A) c.1427+13T>A (n.1427+13T>A) c.1512+13T>A c.1220+13T>A (n.1220+13T>A) c.1247+13T>A (n.1247+13T>A) c.1181+13T>A (n.1181+13T>A) | gnomAD v4 |
4 | g.16006526G>A | CA2670099879 | PROM1 | c.1454+12C>T (n.1454+12C>T) c.*1137+12C>T (n.*1137+12C>T) c.1427+12C>T (n.1427+12C>T) c.1512+12C>T c.1220+12C>T (n.1220+12C>T) c.1247+12C>T (n.1247+12C>T) c.1181+12C>T (n.1181+12C>T) | gnomAD v4 |
4 | g.16006526G>C | CA2670099880 | PROM1 | c.1454+12C>G (n.1454+12C>G) c.*1137+12C>G (n.*1137+12C>G) c.1427+12C>G (n.1427+12C>G) c.1512+12C>G c.1220+12C>G (n.1220+12C>G) c.1247+12C>G (n.1247+12C>G) c.1181+12C>G (n.1181+12C>G) | gnomAD v4 |
4 | g.16006526G>T | CA2670099881 | PROM1 | c.1454+12C>A (n.1454+12C>A) c.*1137+12C>A (n.*1137+12C>A) c.1427+12C>A (n.1427+12C>A) c.1512+12C>A c.1220+12C>A (n.1220+12C>A) c.1247+12C>A (n.1247+12C>A) c.1181+12C>A (n.1181+12C>A) | gnomAD v4 |
4 | g.16006527C>A | CA2670099884 | PROM1 | c.1454+11G>T (n.1454+11G>T) c.*1137+11G>T (n.*1137+11G>T) c.1427+11G>T (n.1427+11G>T) c.1512+11G>T c.1220+11G>T (n.1220+11G>T) c.1247+11G>T (n.1247+11G>T) c.1181+11G>T (n.1181+11G>T) | gnomAD v4 |
4 | g.16006527C= | CA1440916633 | PROM1 | c.1454+11G= (n.1454+11G=) c.*1137+11G= (n.*1137+11G=) c.1427+11G= (n.1427+11G=) c.1512+11G= c.1220+11G= (n.1220+11G=) c.1247+11G= (n.1247+11G=) c.1181+11G= (n.1181+11G=) | |
4 | g.16006527C>T | CA789850274 | PROM1 | c.1454+11G>A (n.1454+11G>A) c.*1137+11G>A (n.*1137+11G>A) c.1427+11G>A (n.1427+11G>A) c.1512+11G>A c.1220+11G>A (n.1220+11G>A) c.1247+11G>A (n.1247+11G>A) c.1181+11G>A (n.1181+11G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.16006528A= | CA1440916634 | PROM1 | c.1454+10T= (n.1454+10T=) c.*1137+10T= (n.*1137+10T=) c.1427+10T= (n.1427+10T=) c.1512+10T= c.1220+10T= (n.1220+10T=) c.1247+10T= (n.1247+10T=) c.1181+10T= (n.1181+10T=) | |
4 | g.16006528A>C | CA1440916635 | PROM1 | c.1454+10T>G (n.1454+10T>G) c.*1137+10T>G (n.*1137+10T>G) c.1427+10T>G (n.1427+10T>G) c.1512+10T>G c.1220+10T>G (n.1220+10T>G) c.1247+10T>G (n.1247+10T>G) c.1181+10T>G (n.1181+10T>G) | dbSNP gnomAD v4 |
4 | g.16006528A>G | CA2580070887 | PROM1 | c.1454+10T>C (n.1454+10T>C) c.*1137+10T>C (n.*1137+10T>C) c.1427+10T>C (n.1427+10T>C) c.1512+10T>C c.1220+10T>C (n.1220+10T>C) c.1247+10T>C (n.1247+10T>C) c.1181+10T>C (n.1181+10T>C) | ClinVar gnomAD v4 |
4 | g.16006529G>C | CA2760553864 | PROM1 | c.1454+9C>G (n.1454+9C>G) c.*1137+9C>G (n.*1137+9C>G) c.1427+9C>G (n.1427+9C>G) c.1512+9C>G c.1220+9C>G (n.1220+9C>G) c.1247+9C>G (n.1247+9C>G) c.1181+9C>G (n.1181+9C>G) | |
4 | g.16006529G>T | CA2670099896 | PROM1 | c.1454+9C>A (n.1454+9C>A) c.*1137+9C>A (n.*1137+9C>A) c.1427+9C>A (n.1427+9C>A) c.1512+9C>A c.1220+9C>A (n.1220+9C>A) c.1247+9C>A (n.1247+9C>A) c.1181+9C>A (n.1181+9C>A) | gnomAD v4 |
4 | g.16006530A>T | CA2670099898 | PROM1 | c.1454+8T>A (n.1454+8T>A) c.*1137+8T>A (n.*1137+8T>A) c.1427+8T>A (n.1427+8T>A) c.1512+8T>A c.1220+8T>A (n.1220+8T>A) c.1247+8T>A (n.1247+8T>A) c.1181+8T>A (n.1181+8T>A) | gnomAD v4 |
4 | g.16006530_16006534delinsACACT | CA1440916636 | PROM1 | c.1454+4_1454+8delinsAGTGT (n.1454+4_1454+8delinsAGTGT) c.*1137+4_*1137+8delinsAGTGT (n.*1137+4_*1137+8delinsAGTGT) c.1427+4_1427+8delinsAGTGT (n.1427+4_1427+8delinsAGTGT) c.1512+4_1512+8delinsAGTGT c.1220+4_1220+8delinsAGTGT (n.1220+4_1220+8delinsAGTGT) c.1247+4_1247+8delinsAGTGT (n.1247+4_1247+8delinsAGTGT) c.1181+4_1181+8delinsAGTGT (n.1181+4_1181+8delinsAGTGT) | |
4 | g.16006531C>A | CA2670099901 | PROM1 | c.1454+7G>T (n.1454+7G>T) c.*1137+7G>T (n.*1137+7G>T) c.1427+7G>T (n.1427+7G>T) c.1512+7G>T c.1220+7G>T (n.1220+7G>T) c.1247+7G>T (n.1247+7G>T) c.1181+7G>T (n.1181+7G>T) | gnomAD v4 |
4 | g.16006534_16006537del | CA2866766 | PROM1 | c.1454+4_1454+7del (n.1454+4_1454+7del) c.*1137+4_*1137+7del (n.*1137+4_*1137+7del) c.1427+4_1427+7del (n.1427+4_1427+7del) c.1512+4_1512+7del c.1220+4_1220+7del (n.1220+4_1220+7del) c.1247+4_1247+7del (n.1247+4_1247+7del) c.1181+4_1181+7del (n.1181+4_1181+7del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006532A>T | CA2670099903 | PROM1 | c.1454+6T>A (n.1454+6T>A) c.*1137+6T>A (n.*1137+6T>A) c.1427+6T>A (n.1427+6T>A) c.1512+6T>A c.1220+6T>A (n.1220+6T>A) c.1247+6T>A (n.1247+6T>A) c.1181+6T>A (n.1181+6T>A) | gnomAD v4 |
4 | g.16006533C>A | CA2670099908 | PROM1 | c.1454+5G>T (n.1454+5G>T) c.*1137+5G>T (n.*1137+5G>T) c.1427+5G>T (n.1427+5G>T) c.1512+5G>T c.1220+5G>T (n.1220+5G>T) c.1247+5G>T (n.1247+5G>T) c.1181+5G>T (n.1181+5G>T) | gnomAD v4 |
4 | g.16006533C= | CA1440916637 | PROM1 | c.1454+5G= (n.1454+5G=) c.*1137+5G= (n.*1137+5G=) c.1427+5G= (n.1427+5G=) c.1512+5G= c.1220+5G= (n.1220+5G=) c.1247+5G= (n.1247+5G=) c.1181+5G= (n.1181+5G=) | |
4 | g.16006533C>T | CA789850283 | PROM1 | c.1454+5G>A (n.1454+5G>A) c.*1137+5G>A (n.*1137+5G>A) c.1427+5G>A (n.1427+5G>A) c.1512+5G>A c.1220+5G>A (n.1220+5G>A) c.1247+5G>A (n.1247+5G>A) c.1181+5G>A (n.1181+5G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.16006534T>A | CA2670099913 | PROM1 | c.1454+4A>T (n.1454+4A>T) c.*1137+4A>T (n.*1137+4A>T) c.1427+4A>T (n.1427+4A>T) c.1512+4A>T c.1220+4A>T (n.1220+4A>T) c.1247+4A>T (n.1247+4A>T) c.1181+4A>T (n.1181+4A>T) | gnomAD v4 |
4 | g.16006534T>C | CA2866767 | PROM1 | c.1454+4A>G (n.1454+4A>G) c.*1137+4A>G (n.*1137+4A>G) c.1427+4A>G (n.1427+4A>G) c.1512+4A>G c.1220+4A>G (n.1220+4A>G) c.1247+4A>G (n.1247+4A>G) c.1181+4A>G (n.1181+4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006534T>G | CA2670099914 | PROM1 | c.1454+4A>C (n.1454+4A>C) c.*1137+4A>C (n.*1137+4A>C) c.1427+4A>C (n.1427+4A>C) c.1512+4A>C c.1220+4A>C (n.1220+4A>C) c.1247+4A>C (n.1247+4A>C) c.1181+4A>C (n.1181+4A>C) | gnomAD v4 |
4 | g.16006534T= | CA1440916638 | PROM1 | c.1454+4A= (n.1454+4A=) c.*1137+4A= (n.*1137+4A=) c.1427+4A= (n.1427+4A=) c.1512+4A= c.1220+4A= (n.1220+4A=) c.1247+4A= (n.1247+4A=) c.1181+4A= (n.1181+4A=) | |
4 | g.16006535C>A | CA2670099917 | PROM1 | c.1454+3G>T (n.1454+3G>T) c.*1137+3G>T (n.*1137+3G>T) c.1427+3G>T (n.1427+3G>T) c.1512+3G>T c.1220+3G>T (n.1220+3G>T) c.1247+3G>T (n.1247+3G>T) c.1181+3G>T (n.1181+3G>T) | gnomAD v4 |
4 | g.16006535C>G | CA2670099918 | PROM1 | c.1454+3G>C (n.1454+3G>C) c.*1137+3G>C (n.*1137+3G>C) c.1427+3G>C (n.1427+3G>C) c.1512+3G>C c.1220+3G>C (n.1220+3G>C) c.1247+3G>C (n.1247+3G>C) c.1181+3G>C (n.1181+3G>C) | gnomAD v4 |
4 | g.16006535C>T | CA2670099919 | PROM1 | c.1454+3G>A (n.1454+3G>A) c.*1137+3G>A (n.*1137+3G>A) c.1427+3G>A (n.1427+3G>A) c.1512+3G>A c.1220+3G>A (n.1220+3G>A) c.1247+3G>A (n.1247+3G>A) c.1181+3G>A (n.1181+3G>A) | gnomAD v4 |
4 | g.16006536A>C | CA356435008 | PROM1 | c.1454+2T>G (n.1454+2T>G) c.*1137+2T>G (n.*1137+2T>G) c.1427+2T>G (n.1427+2T>G) c.1512+2T>G c.1220+2T>G (n.1220+2T>G) c.1247+2T>G (n.1247+2T>G) c.1181+2T>G (n.1181+2T>G) | |
4 | g.16006536A>G | CA356435010 | PROM1 | c.1454+2T>C (n.1454+2T>C) c.*1137+2T>C (n.*1137+2T>C) c.1427+2T>C (n.1427+2T>C) c.1512+2T>C c.1220+2T>C (n.1220+2T>C) c.1247+2T>C (n.1247+2T>C) c.1181+2T>C (n.1181+2T>C) | |
4 | g.16006536A>T | CA356435012 | PROM1 | c.1454+2T>A (n.1454+2T>A) c.*1137+2T>A (n.*1137+2T>A) c.1427+2T>A (n.1427+2T>A) c.1512+2T>A c.1220+2T>A (n.1220+2T>A) c.1247+2T>A (n.1247+2T>A) c.1181+2T>A (n.1181+2T>A) | |
4 | g.16006537C>A | CA356435015 | PROM1 | c.1454+1G>T (n.1454+1G>T) c.*1137+1G>T (n.*1137+1G>T) c.1427+1G>T (n.1427+1G>T) c.1512+1G>T c.1220+1G>T (n.1220+1G>T) c.1247+1G>T (n.1247+1G>T) c.1181+1G>T (n.1181+1G>T) | gnomAD v4 |
4 | g.16006537C>G | CA356435016 | PROM1 | c.1454+1G>C (n.1454+1G>C) c.*1137+1G>C (n.*1137+1G>C) c.1427+1G>C (n.1427+1G>C) c.1512+1G>C c.1220+1G>C (n.1220+1G>C) c.1247+1G>C (n.1247+1G>C) c.1181+1G>C (n.1181+1G>C) | |
4 | g.16006537C>T | CA356435018 | PROM1 | c.1454+1G>A (n.1454+1G>A) c.*1137+1G>A (n.*1137+1G>A) c.1427+1G>A (n.1427+1G>A) c.1512+1G>A c.1220+1G>A (n.1220+1G>A) c.1247+1G>A (n.1247+1G>A) c.1181+1G>A (n.1181+1G>A) | gnomAD v4 |
4 | g.16006538A= | CA1440916639 | PROM1 | c.1454T= (p.Val485=) c.*1137T= (n.*1137T=) c.1427T= (p.Val476=) c.1512T= c.1220T= (p.Val407=) c.1247T= (p.Val416=) c.1181T= (p.Val394=) | |
4 | g.16006538A>C | CA356435020 | PROM1 | c.1454T>G (p.Val485Gly) c.*1137T>G (n.*1137T>G) c.1427T>G (p.Val476Gly) c.1512T>G c.1220T>G (p.Val407Gly) c.1247T>G (p.Val416Gly) c.1181T>G (p.Val394Gly) | |
4 | g.16006538A>G | CA356435022 | PROM1 | c.1454T>C (p.Val485Ala) c.*1137T>C (n.*1137T>C) c.1427T>C (p.Val476Ala) c.1512T>C c.1220T>C (p.Val407Ala) c.1247T>C (p.Val416Ala) c.1181T>C (p.Val394Ala) | dbSNP gnomAD v4 |
4 | g.16006538A>T | CA356435024 | PROM1 | c.1454T>A (p.Val485Asp) c.*1137T>A (n.*1137T>A) c.1427T>A (p.Val476Asp) c.1512T>A c.1220T>A (p.Val407Asp) c.1247T>A (p.Val416Asp) c.1181T>A (p.Val394Asp) | |
4 | g.16006539C>A | CA356435028 | PROM1 | c.1453G>T (p.Val485Phe) c.*1136G>T (n.*1136G>T) c.1426G>T (p.Val476Phe) c.1511G>T c.1219G>T (p.Val407Phe) c.1246G>T (p.Val416Phe) c.1180G>T (p.Val394Phe) | gnomAD v4 |
4 | g.16006539C= | CA1440916640 | PROM1 | c.1453G= (p.Val485=) c.*1136G= (n.*1136G=) c.1426G= (p.Val476=) c.1511G= c.1219G= (p.Val407=) c.1246G= (p.Val416=) c.1180G= (p.Val394=) | |
4 | g.16006539C>G | CA356435031 | PROM1 | c.1453G>C (p.Val485Leu) c.*1136G>C (n.*1136G>C) c.1426G>C (p.Val476Leu) c.1511G>C c.1219G>C (p.Val407Leu) c.1246G>C (p.Val416Leu) c.1180G>C (p.Val394Leu) | |
4 | g.16006539C>T | CA356435026 | PROM1 | c.1453G>A (p.Val485Ile) c.*1136G>A (n.*1136G>A) c.1426G>A (p.Val476Ile) c.1511G>A c.1219G>A (p.Val407Ile) c.1246G>A (p.Val416Ile) c.1180G>A (p.Val394Ile) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.16006540C>A | CA356435033 | PROM1 | c.1452G>T (p.Met484Ile) c.*1135G>T (n.*1135G>T) c.1425G>T (p.Met475Ile) c.1510G>T c.1218G>T (p.Met406Ile) c.1245G>T (p.Met415Ile) c.1179G>T (p.Met393Ile) | gnomAD v4 |
4 | g.16006540C= | CA1440916641 | PROM1 | c.1452G= (p.Met484=) c.*1135G= (n.*1135G=) c.1425G= (p.Met475=) c.1510G= c.1218G= (p.Met406=) c.1245G= (p.Met415=) c.1179G= (p.Met393=) | |
4 | g.16006540C>G | CA356435035 | PROM1 | c.1452G>C (p.Met484Ile) c.*1135G>C (n.*1135G>C) c.1425G>C (p.Met475Ile) c.1510G>C c.1218G>C (p.Met406Ile) c.1245G>C (p.Met415Ile) c.1179G>C (p.Met393Ile) | |
4 | g.16006540C>T | CA92594386 | PROM1 | c.1452G>A (p.Met484Ile) c.*1135G>A (n.*1135G>A) c.1425G>A (p.Met475Ile) c.1510G>A c.1218G>A (p.Met406Ile) c.1245G>A (p.Met415Ile) c.1179G>A (p.Met393Ile) | dbSNP gnomAD v4 |
4 | g.16006541A= | CA1440916642 | PROM1 | c.1451T= (p.Met484=) c.*1134T= (n.*1134T=) c.1424T= (p.Met475=) c.1509T= c.1217T= (p.Met406=) c.1244T= (p.Met415=) c.1178T= (p.Met393=) | |
4 | g.16006541A>C | CA356435037 | PROM1 | c.1451T>G (p.Met484Arg) c.*1134T>G (n.*1134T>G) c.1424T>G (p.Met475Arg) c.1509T>G c.1217T>G (p.Met406Arg) c.1244T>G (p.Met415Arg) c.1178T>G (p.Met393Arg) | |
4 | g.16006541A>G | CA356435040 | PROM1 | c.1451T>C (p.Met484Thr) c.*1134T>C (n.*1134T>C) c.1424T>C (p.Met475Thr) c.1509T>C c.1217T>C (p.Met406Thr) c.1244T>C (p.Met415Thr) c.1178T>C (p.Met393Thr) | gnomAD v4 |
4 | g.16006541A>T | CA356435042 | PROM1 | c.1451T>A (p.Met484Lys) c.*1134T>A (n.*1134T>A) c.1424T>A (p.Met475Lys) c.1509T>A c.1217T>A (p.Met406Lys) c.1244T>A (p.Met415Lys) c.1178T>A (p.Met393Lys) | dbSNP |
4 | g.16006542T>A | CA356435044 | PROM1 | c.1450A>T (p.Met484Leu) c.*1133A>T (n.*1133A>T) c.1423A>T (p.Met475Leu) c.1508A>T c.1216A>T (p.Met406Leu) c.1243A>T (p.Met415Leu) c.1177A>T (p.Met393Leu) | |
4 | g.16006542T>C | CA2866768 | PROM1 | c.1450A>G (p.Met484Val) c.*1133A>G (n.*1133A>G) c.1423A>G (p.Met475Val) c.1508A>G c.1216A>G (p.Met406Val) c.1243A>G (p.Met415Val) c.1177A>G (p.Met393Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006542T>G | CA356435046 | PROM1 | c.1450A>C (p.Met484Leu) c.*1133A>C (n.*1133A>C) c.1423A>C (p.Met475Leu) c.1508A>C c.1216A>C (p.Met406Leu) c.1243A>C (p.Met415Leu) c.1177A>C (p.Met393Leu) | |
4 | g.16006542T= | CA1440916643 | PROM1 | c.1450A= (p.Met484=) c.*1133A= (n.*1133A=) c.1423A= (p.Met475=) c.1508A= c.1216A= (p.Met406=) c.1243A= (p.Met415=) c.1177A= (p.Met393=) | |
4 | g.16006543G>A | CA438386773 | PROM1 | c.1449C>T (p.Leu483=) c.*1132C>T (n.*1132C>T) c.1422C>T (p.Leu474=) c.1507C>T c.1215C>T (p.Leu405=) c.1242C>T (p.Leu414=) c.1176C>T (p.Leu392=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.16006543G>C | CA438386774 | PROM1 | c.1449C>G (p.Leu483=) c.*1132C>G (n.*1132C>G) c.1422C>G (p.Leu474=) c.1507C>G c.1215C>G (p.Leu405=) c.1242C>G (p.Leu414=) c.1176C>G (p.Leu392=) | |
4 | g.16006543G= | CA1440916644 | PROM1 | c.1449C= (p.Leu483=) c.*1132C= (n.*1132C=) c.1422C= (p.Leu474=) c.1507C= c.1215C= (p.Leu405=) c.1242C= (p.Leu414=) c.1176C= (p.Leu392=) | |
4 | g.16006543G>T | CA92594389 | PROM1 | c.1449C>A (p.Leu483=) c.*1132C>A (n.*1132C>A) c.1422C>A (p.Leu474=) c.1507C>A c.1215C>A (p.Leu405=) c.1242C>A (p.Leu414=) c.1176C>A (p.Leu392=) | dbSNP gnomAD v4 |
4 | g.16006544A>C | CA356435049 | PROM1 | c.1448T>G (p.Leu483Arg) c.*1131T>G (n.*1131T>G) c.1421T>G (p.Leu474Arg) c.1506T>G c.1214T>G (p.Leu405Arg) c.1241T>G (p.Leu414Arg) c.1175T>G (p.Leu392Arg) | |
4 | g.16006544A>G | CA356435051 | PROM1 | c.1448T>C (p.Leu483Pro) c.*1131T>C (n.*1131T>C) c.1421T>C (p.Leu474Pro) c.1506T>C c.1214T>C (p.Leu405Pro) c.1241T>C (p.Leu414Pro) c.1175T>C (p.Leu392Pro) | |
4 | g.16006544A>T | CA356435053 | PROM1 | c.1448T>A (p.Leu483His) c.*1131T>A (n.*1131T>A) c.1421T>A (p.Leu474His) c.1506T>A c.1214T>A (p.Leu405His) c.1241T>A (p.Leu414His) c.1175T>A (p.Leu392His) | |
4 | g.16006545G>A | CA356435058 | PROM1 | c.1447C>T (p.Leu483Phe) c.*1130C>T (n.*1130C>T) c.1420C>T (p.Leu474Phe) c.1505C>T c.1213C>T (p.Leu405Phe) c.1240C>T (p.Leu414Phe) c.1174C>T (p.Leu392Phe) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.16006545G>C | CA356435060 | PROM1 | c.1447C>G (p.Leu483Val) c.*1130C>G (n.*1130C>G) c.1420C>G (p.Leu474Val) c.1505C>G c.1213C>G (p.Leu405Val) c.1240C>G (p.Leu414Val) c.1174C>G (p.Leu392Val) | gnomAD v4 |
4 | g.16006545G= | CA1440916645 | PROM1 | c.1447C= (p.Leu483=) c.*1130C= (n.*1130C=) c.1420C= (p.Leu474=) c.1505C= c.1213C= (p.Leu405=) c.1240C= (p.Leu414=) c.1174C= (p.Leu392=) | |
4 | g.16006545G>T | CA356435056 | PROM1 | c.1447C>A (p.Leu483Ile) c.*1130C>A (n.*1130C>A) c.1420C>A (p.Leu474Ile) c.1505C>A c.1213C>A (p.Leu405Ile) c.1240C>A (p.Leu414Ile) c.1174C>A (p.Leu392Ile) | |
4 | g.16006546G>A | CA438386776 | PROM1 | c.1446C>T (p.Phe482=) c.*1129C>T (n.*1129C>T) c.1419C>T (p.Phe473=) c.1504C>T c.1212C>T (p.Phe404=) c.1239C>T (p.Phe413=) c.1173C>T (p.Phe391=) | COSMIC COSMIC |
4 | g.16006546G>C | CA356435062 | PROM1 | c.1446C>G (p.Phe482Leu) c.*1129C>G (n.*1129C>G) c.1419C>G (p.Phe473Leu) c.1504C>G c.1212C>G (p.Phe404Leu) c.1239C>G (p.Phe413Leu) c.1173C>G (p.Phe391Leu) | gnomAD v4 |
4 | g.16006546G>T | CA356435064 | PROM1 | c.1446C>A (p.Phe482Leu) c.*1129C>A (n.*1129C>A) c.1419C>A (p.Phe473Leu) c.1504C>A c.1212C>A (p.Phe404Leu) c.1239C>A (p.Phe413Leu) c.1173C>A (p.Phe391Leu) | |
4 | g.16006547A= | CA1440916647 | PROM1 | c.1445T= (p.Phe482=) c.*1128T= (n.*1128T=) c.1418T= (p.Phe473=) c.1503T= c.1211T= (p.Phe404=) c.1238T= (p.Phe413=) c.1172T= (p.Phe391=) | |
4 | g.16006547A>C | CA92594396 | PROM1 | c.1445T>G (p.Phe482Cys) c.*1128T>G (n.*1128T>G) c.1418T>G (p.Phe473Cys) c.1503T>G c.1211T>G (p.Phe404Cys) c.1238T>G (p.Phe413Cys) c.1172T>G (p.Phe391Cys) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.16006547A>G | CA356435068 | PROM1 | c.1445T>C (p.Phe482Ser) c.*1128T>C (n.*1128T>C) c.1418T>C (p.Phe473Ser) c.1503T>C c.1211T>C (p.Phe404Ser) c.1238T>C (p.Phe413Ser) c.1172T>C (p.Phe391Ser) | gnomAD v4 |
4 | g.16006547A>T | CA356435071 | PROM1 | c.1445T>A (p.Phe482Tyr) c.*1128T>A (n.*1128T>A) c.1418T>A (p.Phe473Tyr) c.1503T>A c.1211T>A (p.Phe404Tyr) c.1238T>A (p.Phe413Tyr) c.1172T>A (p.Phe391Tyr) | |
4 | g.16006548dup | CA2586973706 | PROM1 | c.1445dup (p.Leu483ProfsTer?) c.*1128dup (n.*1128dup) c.1418dup (p.Leu474ProfsTer?) c.1503dup c.1211dup (p.Leu405ProfsTer?) c.1238dup (p.Leu414ProfsTer?) c.1172dup (p.Leu392ProfsTer?) | |
4 | g.16006547_16006565delinsAAGACGCCTCCGGTGTTGG | CA1440916646 | PROM1 | c.1427_1445delinsCCAACACCGGAGGCGTCTT (p.Ser476=) c.*1110_*1128delinsCCAACACCGGAGGCGTCTT (n.*1110_*1128delinsCCAACACCGGAGGCGTCTT) c.1400_1418delinsCCAACACCGGAGGCGTCTT (p.Ser467=) c.1485_1503delinsCCAACACCGGAGGCGTCTT c.1193_1211delinsCCAACACCGGAGGCGTCTT (p.Ser398=) c.1220_1238delinsCCAACACCGGAGGCGTCTT (p.Ser407=) c.1154_1172delinsCCAACACCGGAGGCGTCTT (p.Ser385=) | |
4 | g.16006548A= | CA1440916648 | PROM1 | c.1444T= (p.Phe482=) c.*1127T= (n.*1127T=) c.1417T= (p.Phe473=) c.1502T= c.1210T= (p.Phe404=) c.1237T= (p.Phe413=) c.1171T= (p.Phe391=) | |
4 | g.16006548A>C | CA2866769 | PROM1 | c.1444T>G (p.Phe482Val) c.*1127T>G (n.*1127T>G) c.1417T>G (p.Phe473Val) c.1502T>G c.1210T>G (p.Phe404Val) c.1237T>G (p.Phe413Val) c.1171T>G (p.Phe391Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.16006548A>G | CA356435073 | PROM1 | c.1444T>C (p.Phe482Leu) c.*1127T>C (n.*1127T>C) c.1417T>C (p.Phe473Leu) c.1502T>C c.1210T>C (p.Phe404Leu) c.1237T>C (p.Phe413Leu) c.1171T>C (p.Phe391Leu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.16006548A>T | CA356435076 | PROM1 | c.1444T>A (p.Phe482Ile) c.*1127T>A (n.*1127T>A) c.1417T>A (p.Phe473Ile) c.1502T>A c.1210T>A (p.Phe404Ile) c.1237T>A (p.Phe413Ile) c.1171T>A (p.Phe391Ile) | gnomAD v4 |
4 | g.16006552_16006569del | CA1440916649 | PROM1 | c.1427_1444del (p.Ser476_Val481del) c.*1110_*1127del (n.*1110_*1127del) c.1400_1417del (p.Ser467_Val472del) c.1485_1502del c.1193_1210del (p.Ser398_Val403del) c.1220_1237del (p.Ser407_Val412del) c.1154_1171del (p.Ser385_Val390del) | dbSNP |
4 | g.16006549G>A | CA438386778 | PROM1 | c.1443C>T (p.Val481=) c.*1126C>T (n.*1126C>T) c.1416C>T (p.Val472=) c.1501C>T c.1209C>T (p.Val403=) c.1236C>T (p.Val412=) c.1170C>T (p.Val390=) | |
4 | g.16006549G>C | CA438386779 | PROM1 | c.1443C>G (p.Val481=) c.*1126C>G (n.*1126C>G) c.1416C>G (p.Val472=) c.1501C>G c.1209C>G (p.Val403=) c.1236C>G (p.Val412=) c.1170C>G (p.Val390=) | dbSNP |
4 | g.16006549G>T | CA438386780 | PROM1 | c.1443C>A (p.Val481=) c.*1126C>A (n.*1126C>A) c.1416C>A (p.Val472=) c.1501C>A c.1209C>A (p.Val403=) c.1236C>A (p.Val412=) c.1170C>A (p.Val390=) | |
4 | g.16006550A>C | CA356435079 | PROM1 | c.1442T>G (p.Val481Gly) c.*1125T>G (n.*1125T>G) c.1415T>G (p.Val472Gly) c.1500T>G c.1208T>G (p.Val403Gly) c.1235T>G (p.Val412Gly) c.1169T>G (p.Val390Gly) | |
4 | g.16006550A>G | CA356435081 | PROM1 | c.1442T>C (p.Val481Ala) c.*1125T>C (n.*1125T>C) c.1415T>C (p.Val472Ala) c.1500T>C c.1208T>C (p.Val403Ala) c.1235T>C (p.Val412Ala) c.1169T>C (p.Val390Ala) | |
4 | g.16006550A>T | CA356435083 | PROM1 | c.1442T>A (p.Val481Asp) c.*1125T>A (n.*1125T>A) c.1415T>A (p.Val472Asp) c.1500T>A c.1208T>A (p.Val403Asp) c.1235T>A (p.Val412Asp) c.1169T>A (p.Val390Asp) | |
4 | g.16006551C>A | CA356435085 | PROM1 | c.1441G>T (p.Val481Phe) c.*1124G>T (n.*1124G>T) c.1414G>T (p.Val472Phe) c.1499G>T c.1207G>T (p.Val403Phe) c.1234G>T (p.Val412Phe) c.1168G>T (p.Val390Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.16006551C= | CA1440916650 | PROM1 | c.1441G= (p.Val481=) c.*1124G= (n.*1124G=) c.1414G= (p.Val472=) c.1499G= c.1207G= (p.Val403=) c.1234G= (p.Val412=) c.1168G= (p.Val390=) | |
4 | g.16006551C>G | CA356435086 | PROM1 | c.1441G>C (p.Val481Leu) c.*1124G>C (n.*1124G>C) c.1414G>C (p.Val472Leu) c.1499G>C c.1207G>C (p.Val403Leu) c.1234G>C (p.Val412Leu) c.1168G>C (p.Val390Leu) | |
4 | g.16006551C>T | CA92594415 | PROM1 | c.1441G>A (p.Val481Ile) c.*1124G>A (n.*1124G>A) c.1414G>A (p.Val472Ile) c.1499G>A c.1207G>A (p.Val403Ile) c.1234G>A (p.Val412Ile) c.1168G>A (p.Val390Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.16006552G>A | CA2866770 | PROM1 | c.1440C>T (p.Gly480=) c.*1123C>T (n.*1123C>T) c.1413C>T (p.Gly471=) c.1498C>T c.1206C>T (p.Gly402=) c.1233C>T (p.Gly411=) c.1167C>T (p.Gly389=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006552G>C | CA438386785 | PROM1 | c.1440C>G (p.Gly480=) c.*1123C>G (n.*1123C>G) c.1413C>G (p.Gly471=) c.1498C>G c.1206C>G (p.Gly402=) c.1233C>G (p.Gly411=) c.1167C>G (p.Gly389=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.16006552G= | CA1440916651 | PROM1 | c.1440C= (p.Gly480=) c.*1123C= (n.*1123C=) c.1413C= (p.Gly471=) c.1498C= c.1206C= (p.Gly402=) c.1233C= (p.Gly411=) c.1167C= (p.Gly389=) | |
4 | g.16006552G>T | CA438386786 | PROM1 | c.1440C>A (p.Gly480=) c.*1123C>A (n.*1123C>A) c.1413C>A (p.Gly471=) c.1498C>A c.1206C>A (p.Gly402=) c.1233C>A (p.Gly411=) c.1167C>A (p.Gly389=) | gnomAD v4 |
4 | g.16006553C>A | CA356435089 | PROM1 | c.1439G>T (p.Gly480Val) c.*1122G>T (n.*1122G>T) c.1412G>T (p.Gly471Val) c.1497G>T c.1205G>T (p.Gly402Val) c.1232G>T (p.Gly411Val) c.1166G>T (p.Gly389Val) | gnomAD v4 |
4 | g.16006553C>G | CA356435088 | PROM1 | c.1439G>C (p.Gly480Ala) c.*1122G>C (n.*1122G>C) c.1412G>C (p.Gly471Ala) c.1497G>C c.1205G>C (p.Gly402Ala) c.1232G>C (p.Gly411Ala) c.1166G>C (p.Gly389Ala) | |
4 | g.16006553C>T | CA356435091 | PROM1 | c.1439G>A (p.Gly480Asp) c.*1122G>A (n.*1122G>A) c.1412G>A (p.Gly471Asp) c.1497G>A c.1205G>A (p.Gly402Asp) c.1232G>A (p.Gly411Asp) c.1166G>A (p.Gly389Asp) | |
4 | g.16006554C>A | CA356435094 | PROM1 | c.1438G>T (p.Gly480Cys) c.*1121G>T (n.*1121G>T) c.1411G>T (p.Gly471Cys) c.1496G>T c.1204G>T (p.Gly402Cys) c.1231G>T (p.Gly411Cys) c.1165G>T (p.Gly389Cys) | gnomAD v4 |
4 | g.16006554C= | CA1440916652 | PROM1 | c.1438G= (p.Gly480=) c.*1121G= (n.*1121G=) c.1411G= (p.Gly471=) c.1496G= c.1204G= (p.Gly402=) c.1231G= (p.Gly411=) c.1165G= (p.Gly389=) | |
4 | g.16006554C>G | CA356435098 | PROM1 | c.1438G>C (p.Gly480Arg) c.*1121G>C (n.*1121G>C) c.1411G>C (p.Gly471Arg) c.1496G>C c.1204G>C (p.Gly402Arg) c.1231G>C (p.Gly411Arg) c.1165G>C (p.Gly389Arg) | |
4 | g.16006554C>T | CA2866771 | PROM1 | c.1438G>A (p.Gly480Ser) c.*1121G>A (n.*1121G>A) c.1411G>A (p.Gly471Ser) c.1496G>A c.1204G>A (p.Gly402Ser) c.1231G>A (p.Gly411Ser) c.1165G>A (p.Gly389Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.16006555T>A | CA438386788 | PROM1 | c.1437A>T (p.Gly479=) c.*1120A>T (n.*1120A>T) c.1410A>T (p.Gly470=) c.1495A>T c.1203A>T (p.Gly401=) c.1230A>T (p.Gly410=) c.1164A>T (p.Gly388=) | |
4 | g.16006555T>C | CA438386789 | PROM1 | c.1437A>G (p.Gly479=) c.*1120A>G (n.*1120A>G) c.1410A>G (p.Gly470=) c.1495A>G c.1203A>G (p.Gly401=) c.1230A>G (p.Gly410=) c.1164A>G (p.Gly388=) | gnomAD v4 |
4 | g.16006555T>G | CA438386792 | PROM1 | c.1437A>C (p.Gly479=) c.*1120A>C (n.*1120A>C) c.1410A>C (p.Gly470=) c.1495A>C c.1203A>C (p.Gly401=) c.1230A>C (p.Gly410=) c.1164A>C (p.Gly388=) | gnomAD v4 |
4 | g.16006556C>A | CA356435099 | PROM1 | c.1436G>T (p.Gly479Val) c.*1119G>T (n.*1119G>T) c.1409G>T (p.Gly470Val) c.1494G>T c.1202G>T (p.Gly401Val) c.1229G>T (p.Gly410Val) c.1163G>T (p.Gly388Val) | gnomAD v4 |
4 | g.16006556C>G | CA356435101 | PROM1 | c.1436G>C (p.Gly479Ala) c.*1119G>C (n.*1119G>C) c.1409G>C (p.Gly470Ala) c.1494G>C c.1202G>C (p.Gly401Ala) c.1229G>C (p.Gly410Ala) c.1163G>C (p.Gly388Ala) | |
4 | g.16006556C>T | CA356435103 | PROM1 | c.1436G>A (p.Gly479Glu) c.*1119G>A (n.*1119G>A) c.1409G>A (p.Gly470Glu) c.1494G>A c.1202G>A (p.Gly401Glu) c.1229G>A (p.Gly410Glu) c.1163G>A (p.Gly388Glu) | |
4 | g.16006557C>A | CA356435105 | PROM1 | c.1435G>T (p.Gly479Ter) c.*1118G>T (n.*1118G>T) c.1408G>T (p.Gly470Ter) c.1493G>T c.1201G>T (p.Gly401Ter) c.1228G>T (p.Gly410Ter) c.1162G>T (p.Gly388Ter) | gnomAD v4 |
4 | g.16006557C= | CA1440916653 | PROM1 | c.1435G= (p.Gly479=) c.*1118G= (n.*1118G=) c.1408G= (p.Gly470=) c.1493G= c.1201G= (p.Gly401=) c.1228G= (p.Gly410=) c.1162G= (p.Gly388=) | |
4 | g.16006557C>G | CA356435107 | PROM1 | c.1435G>C (p.Gly479Arg) c.*1118G>C (n.*1118G>C) c.1408G>C (p.Gly470Arg) c.1493G>C c.1201G>C (p.Gly401Arg) c.1228G>C (p.Gly410Arg) c.1162G>C (p.Gly388Arg) | |
4 | g.16006557C>T | CA2866772 | PROM1 | c.1435G>A (p.Gly479Arg) c.*1118G>A (n.*1118G>A) c.1408G>A (p.Gly470Arg) c.1493G>A c.1201G>A (p.Gly401Arg) c.1228G>A (p.Gly410Arg) c.1162G>A (p.Gly388Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.16006558G>A | CA2866773 | PROM1 | c.1434C>T (p.Thr478=) c.*1117C>T (n.*1117C>T) c.1407C>T (p.Thr469=) c.1492C>T c.1200C>T (p.Thr400=) c.1227C>T (p.Thr409=) c.1161C>T (p.Thr387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006558G>C | CA438386794 | PROM1 | c.1434C>G (p.Thr478=) c.*1117C>G (n.*1117C>G) c.1407C>G (p.Thr469=) c.1492C>G c.1200C>G (p.Thr400=) c.1227C>G (p.Thr409=) c.1161C>G (p.Thr387=) | |
4 | g.16006558G= | CA1440916654 | PROM1 | c.1434C= (p.Thr478=) c.*1117C= (n.*1117C=) c.1407C= (p.Thr469=) c.1492C= c.1200C= (p.Thr400=) c.1227C= (p.Thr409=) c.1161C= (p.Thr387=) | |
4 | g.16006558G>T | CA438386795 | PROM1 | c.1434C>A (p.Thr478=) c.*1117C>A (n.*1117C>A) c.1407C>A (p.Thr469=) c.1492C>A c.1200C>A (p.Thr400=) c.1227C>A (p.Thr409=) c.1161C>A (p.Thr387=) | gnomAD v4 |
4 | g.16006559dup | CA2670099964 | PROM1 | c.1434dup (p.Gly479ArgfsTer?) c.*1117dup (n.*1117dup) c.1407dup (p.Gly470ArgfsTer?) c.1492dup c.1200dup (p.Gly401ArgfsTer?) c.1227dup (p.Gly410ArgfsTer?) c.1161dup (p.Gly388ArgfsTer?) | gnomAD v4 |
4 | g.16006559G>A | CA356435111 | PROM1 | c.1433C>T (p.Thr478Ile) c.*1116C>T (n.*1116C>T) c.1406C>T (p.Thr469Ile) c.1491C>T c.1199C>T (p.Thr400Ile) c.1226C>T (p.Thr409Ile) c.1160C>T (p.Thr387Ile) | gnomAD v4 |
4 | g.16006559G>C | CA356435114 | PROM1 | c.1433C>G (p.Thr478Ser) c.*1116C>G (n.*1116C>G) c.1406C>G (p.Thr469Ser) c.1491C>G c.1199C>G (p.Thr400Ser) c.1226C>G (p.Thr409Ser) c.1160C>G (p.Thr387Ser) | |
4 | g.16006559G>T | CA356435116 | PROM1 | c.1433C>A (p.Thr478Asn) c.*1116C>A (n.*1116C>A) c.1406C>A (p.Thr469Asn) c.1491C>A c.1199C>A (p.Thr400Asn) c.1226C>A (p.Thr409Asn) c.1160C>A (p.Thr387Asn) | gnomAD v4 |
4 | g.16006560T>A | CA356435123 | PROM1 | c.1432A>T (p.Thr478Ser) c.*1115A>T (n.*1115A>T) c.1405A>T (p.Thr469Ser) c.1490A>T c.1198A>T (p.Thr400Ser) c.1225A>T (p.Thr409Ser) c.1159A>T (p.Thr387Ser) | |
4 | g.16006560T>C | CA356435121 | PROM1 | c.1432A>G (p.Thr478Ala) c.*1115A>G (n.*1115A>G) c.1405A>G (p.Thr469Ala) c.1490A>G c.1198A>G (p.Thr400Ala) c.1225A>G (p.Thr409Ala) c.1159A>G (p.Thr387Ala) | |
4 | g.16006560T>G | CA356435120 | PROM1 | c.1432A>C (p.Thr478Pro) c.*1115A>C (n.*1115A>C) c.1405A>C (p.Thr469Pro) c.1490A>C c.1198A>C (p.Thr400Pro) c.1225A>C (p.Thr409Pro) c.1159A>C (p.Thr387Pro) | gnomAD v4 |
4 | g.16006561G>A | CA438386796 | PROM1 | c.1431C>T (p.Asn477=) c.*1114C>T (n.*1114C>T) c.1404C>T (p.Asn468=) c.1489C>T c.1197C>T (p.Asn399=) c.1224C>T (p.Asn408=) c.1158C>T (p.Asn386=) | gnomAD v4 |
4 | g.16006561G>C | CA356435125 | PROM1 | c.1431C>G (p.Asn477Lys) c.*1114C>G (n.*1114C>G) c.1404C>G (p.Asn468Lys) c.1489C>G c.1197C>G (p.Asn399Lys) c.1224C>G (p.Asn408Lys) c.1158C>G (p.Asn386Lys) | |
4 | g.16006561G>T | CA356435127 | PROM1 | c.1431C>A (p.Asn477Lys) c.*1114C>A (n.*1114C>A) c.1404C>A (p.Asn468Lys) c.1489C>A c.1197C>A (p.Asn399Lys) c.1224C>A (p.Asn408Lys) c.1158C>A (p.Asn386Lys) | gnomAD v4 |
4 | g.16006562T>A | CA356435129 | PROM1 | c.1430A>T (p.Asn477Ile) c.*1113A>T (n.*1113A>T) c.1403A>T (p.Asn468Ile) c.1488A>T c.1196A>T (p.Asn399Ile) c.1223A>T (p.Asn408Ile) c.1157A>T (p.Asn386Ile) | |
4 | g.16006562T>C | CA356435131 | PROM1 | c.1430A>G (p.Asn477Ser) c.*1113A>G (n.*1113A>G) c.1403A>G (p.Asn468Ser) c.1488A>G c.1196A>G (p.Asn399Ser) c.1223A>G (p.Asn408Ser) c.1157A>G (p.Asn386Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.16006562T>G | CA356435133 | PROM1 | c.1430A>C (p.Asn477Thr) c.*1113A>C (n.*1113A>C) c.1403A>C (p.Asn468Thr) c.1488A>C c.1196A>C (p.Asn399Thr) c.1223A>C (p.Asn408Thr) c.1157A>C (p.Asn386Thr) | |
4 | g.16006562T= | CA1440916655 | PROM1 | c.1430A= (p.Asn477=) c.*1113A= (n.*1113A=) c.1403A= (p.Asn468=) c.1488A= c.1196A= (p.Asn399=) c.1223A= (p.Asn408=) c.1157A= (p.Asn386=) | |
4 | g.16006563T>A | CA356435135 | PROM1 | c.1429A>T (p.Asn477Tyr) c.*1112A>T (n.*1112A>T) c.1402A>T (p.Asn468Tyr) c.1487A>T c.1195A>T (p.Asn399Tyr) c.1222A>T (p.Asn408Tyr) c.1156A>T (p.Asn386Tyr) | |
4 | g.16006563T>C | CA356435137 | PROM1 | c.1429A>G (p.Asn477Asp) c.*1112A>G (n.*1112A>G) c.1402A>G (p.Asn468Asp) c.1487A>G c.1195A>G (p.Asn399Asp) c.1222A>G (p.Asn408Asp) c.1156A>G (p.Asn386Asp) | |
4 | g.16006563T>G | CA356435139 | PROM1 | c.1429A>C (p.Asn477His) c.*1112A>C (n.*1112A>C) c.1402A>C (p.Asn468His) c.1487A>C c.1195A>C (p.Asn399His) c.1222A>C (p.Asn408His) c.1156A>C (p.Asn386His) | |
4 | g.16006564G>A | CA438386800 | PROM1 | c.1428C>T (p.Ser476=) c.*1111C>T (n.*1111C>T) c.1401C>T (p.Ser467=) c.1486C>T c.1194C>T (p.Ser398=) c.1221C>T (p.Ser407=) c.1155C>T (p.Ser385=) | |
4 | g.16006564G>C | CA438386798 | PROM1 | c.1428C>G (p.Ser476=) c.*1111C>G (n.*1111C>G) c.1401C>G (p.Ser467=) c.1486C>G c.1194C>G (p.Ser398=) c.1221C>G (p.Ser407=) c.1155C>G (p.Ser385=) | |
4 | g.16006564G>T | CA438386799 | PROM1 | c.1428C>A (p.Ser476=) c.*1111C>A (n.*1111C>A) c.1401C>A (p.Ser467=) c.1486C>A c.1194C>A (p.Ser398=) c.1221C>A (p.Ser407=) c.1155C>A (p.Ser385=) | |
4 | g.16006565G>A | CA356435142 | PROM1 | c.1427C>T (p.Ser476Phe) c.*1110C>T (n.*1110C>T) c.1400C>T (p.Ser467Phe) c.1485C>T c.1193C>T (p.Ser398Phe) c.1220C>T (p.Ser407Phe) c.1154C>T (p.Ser385Phe) | dbSNP gnomAD v2 |
4 | g.16006565G>C | CA356435143 | PROM1 | c.1427C>G (p.Ser476Cys) c.*1110C>G (n.*1110C>G) c.1400C>G (p.Ser467Cys) c.1485C>G c.1193C>G (p.Ser398Cys) c.1220C>G (p.Ser407Cys) c.1154C>G (p.Ser385Cys) | |
4 | g.16006565G= | CA1440916656 | PROM1 | c.1427C= (p.Ser476=) c.*1110C= (n.*1110C=) c.1400C= (p.Ser467=) c.1485C= c.1193C= (p.Ser398=) c.1220C= (p.Ser407=) c.1154C= (p.Ser385=) | |
4 | g.16006565G>T | CA356435145 | PROM1 | c.1427C>A (p.Ser476Tyr) c.*1110C>A (n.*1110C>A) c.1400C>A (p.Ser467Tyr) c.1485C>A c.1193C>A (p.Ser398Tyr) c.1220C>A (p.Ser407Tyr) c.1154C>A (p.Ser385Tyr) | gnomAD v4 |
4 | g.16006566A>C | CA356435149 | PROM1 | c.1426T>G (p.Ser476Ala) c.*1109T>G (n.*1109T>G) c.1399T>G (p.Ser467Ala) c.1484T>G c.1192T>G (p.Ser398Ala) c.1219T>G (p.Ser407Ala) c.1153T>G (p.Ser385Ala) | |
4 | g.16006566A>G | CA356435150 | PROM1 | c.1426T>C (p.Ser476Pro) c.*1109T>C (n.*1109T>C) c.1399T>C (p.Ser467Pro) c.1484T>C c.1192T>C (p.Ser398Pro) c.1219T>C (p.Ser407Pro) c.1153T>C (p.Ser385Pro) | |
4 | g.16006566A>T | CA356435147 | PROM1 | c.1426T>A (p.Ser476Thr) c.*1109T>A (n.*1109T>A) c.1399T>A (p.Ser467Thr) c.1484T>A c.1192T>A (p.Ser398Thr) c.1219T>A (p.Ser407Thr) c.1153T>A (p.Ser385Thr) | |
4 | g.16006567G>A | CA438386803 | PROM1 | c.1425C>T (p.Val475=) c.*1108C>T (n.*1108C>T) c.1398C>T (p.Val466=) c.1483C>T c.1191C>T (p.Val397=) c.1218C>T (p.Val406=) c.1152C>T (p.Val384=) | |
4 | g.16006567G>C | CA438386804 | PROM1 | c.1425C>G (p.Val475=) c.*1108C>G (n.*1108C>G) c.1398C>G (p.Val466=) c.1483C>G c.1191C>G (p.Val397=) c.1218C>G (p.Val406=) c.1152C>G (p.Val384=) | |
4 | g.16006567G>T | CA438386805 | PROM1 | c.1425C>A (p.Val475=) c.*1108C>A (n.*1108C>A) c.1398C>A (p.Val466=) c.1483C>A c.1191C>A (p.Val397=) c.1218C>A (p.Val406=) c.1152C>A (p.Val384=) | gnomAD v4 |
4 | g.16006567_16006569delinsGAC | CA1440916657 | PROM1 | c.1423_1425delinsGTC (p.Val475=) c.*1106_*1108delinsGTC (n.*1106_*1108delinsGTC) c.1396_1398delinsGTC (p.Val466=) c.1481_1483delinsGTC c.1189_1191delinsGTC (p.Val397=) c.1216_1218delinsGTC (p.Val406=) c.1150_1152delinsGTC (p.Val384=) | |
4 | g.16006568A>C | CA356435153 | PROM1 | c.1424T>G (p.Val475Gly) c.*1107T>G (n.*1107T>G) c.1397T>G (p.Val466Gly) c.1482T>G c.1190T>G (p.Val397Gly) c.1217T>G (p.Val406Gly) c.1151T>G (p.Val384Gly) | |
4 | g.16006568A>G | CA356435154 | PROM1 | c.1424T>C (p.Val475Ala) c.*1107T>C (n.*1107T>C) c.1397T>C (p.Val466Ala) c.1482T>C c.1190T>C (p.Val397Ala) c.1217T>C (p.Val406Ala) c.1151T>C (p.Val384Ala) | |
4 | g.16006568A>T | CA356435156 | PROM1 | c.1424T>A (p.Val475Asp) c.*1107T>A (n.*1107T>A) c.1397T>A (p.Val466Asp) c.1482T>A c.1190T>A (p.Val397Asp) c.1217T>A (p.Val406Asp) c.1151T>A (p.Val384Asp) | ClinVar dbSNP |
4 | g.16006568dup | CA2841935563 | PROM1 | c.1424dup (p.Ser476LeufsTer?) c.*1107dup (n.*1107dup) c.1397dup (p.Ser467LeufsTer?) c.1482dup c.1190dup (p.Ser398LeufsTer?) c.1217dup (p.Ser407LeufsTer?) c.1151dup (p.Ser385LeufsTer?) | |
4 | g.16006571_16006572del | CA789850355 | PROM1 | c.1423_1424del (p.Val475LeufsTer?) c.*1106_*1107del (n.*1106_*1107del) c.1396_1397del (p.Val466LeufsTer?) c.1481_1482del c.1189_1190del (p.Val397LeufsTer?) c.1216_1217del (p.Val406LeufsTer?) c.1150_1151del (p.Val384LeufsTer?) | ClinVar dbSNP gnomAD v4 |
4 | g.16006569C>A | CA356435158 | PROM1 | c.1423G>T (p.Val475Phe) c.*1106G>T (n.*1106G>T) c.1396G>T (p.Val466Phe) c.1481G>T c.1189G>T (p.Val397Phe) c.1216G>T (p.Val406Phe) c.1150G>T (p.Val384Phe) | gnomAD v4 COSMIC COSMIC |
4 | g.16006569C>G | CA356435160 | PROM1 | c.1423G>C (p.Val475Leu) c.*1106G>C (n.*1106G>C) c.1396G>C (p.Val466Leu) c.1481G>C c.1189G>C (p.Val397Leu) c.1216G>C (p.Val406Leu) c.1150G>C (p.Val384Leu) | gnomAD v4 |
4 | g.16006569C>T | CA356435161 | PROM1 | c.1423G>A (p.Val475Ile) c.*1106G>A (n.*1106G>A) c.1396G>A (p.Val466Ile) c.1481G>A c.1189G>A (p.Val397Ile) c.1216G>A (p.Val406Ile) c.1150G>A (p.Val384Ile) | |
4 | g.16006570A= | CA1440916658 | PROM1 | c.1422T= (p.Cys474=) c.*1105T= (n.*1105T=) c.1395T= (p.Cys465=) c.1480T= c.1188T= (p.Cys396=) c.1215T= (p.Cys405=) c.1149T= (p.Cys383=) | |
4 | g.16006570A>C | CA92594446 | PROM1 | c.1422T>G (p.Cys474Trp) c.*1105T>G (n.*1105T>G) c.1395T>G (p.Cys465Trp) c.1480T>G c.1188T>G (p.Cys396Trp) c.1215T>G (p.Cys405Trp) c.1149T>G (p.Cys383Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006570A>G | CA438386808 | PROM1 | c.1422T>C (p.Cys474=) c.*1105T>C (n.*1105T>C) c.1395T>C (p.Cys465=) c.1480T>C c.1188T>C (p.Cys396=) c.1215T>C (p.Cys405=) c.1149T>C (p.Cys383=) | ClinVar |
4 | g.16006570A>T | CA356435163 | PROM1 | c.1422T>A (p.Cys474Ter) c.*1105T>A (n.*1105T>A) c.1395T>A (p.Cys465Ter) c.1480T>A c.1188T>A (p.Cys396Ter) c.1215T>A (p.Cys405Ter) c.1149T>A (p.Cys383Ter) | |
4 | g.16006571C>A | CA356435168 | PROM1 | c.1421G>T (p.Cys474Phe) c.*1104G>T (n.*1104G>T) c.1394G>T (p.Cys465Phe) c.1479G>T c.1187G>T (p.Cys396Phe) c.1214G>T (p.Cys405Phe) c.1148G>T (p.Cys383Phe) | gnomAD v4 |
4 | g.16006571C= | CA1440916659 | PROM1 | c.1421G= (p.Cys474=) c.*1104G= (n.*1104G=) c.1394G= (p.Cys465=) c.1479G= c.1187G= (p.Cys396=) c.1214G= (p.Cys405=) c.1148G= (p.Cys383=) | |
4 | g.16006571C>G | CA356435170 | PROM1 | c.1421G>C (p.Cys474Ser) c.*1104G>C (n.*1104G>C) c.1394G>C (p.Cys465Ser) c.1479G>C c.1187G>C (p.Cys396Ser) c.1214G>C (p.Cys405Ser) c.1148G>C (p.Cys383Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006571C>T | CA356435172 | PROM1 | c.1421G>A (p.Cys474Tyr) c.*1104G>A (n.*1104G>A) c.1394G>A (p.Cys465Tyr) c.1479G>A c.1187G>A (p.Cys396Tyr) c.1214G>A (p.Cys405Tyr) c.1148G>A (p.Cys383Tyr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
4 | g.16006572A= | CA1440916660 | PROM1 | c.1420T= (p.Cys474=) c.*1103T= (n.*1103T=) c.1393T= (p.Cys465=) c.1478T= c.1186T= (p.Cys396=) c.1213T= (p.Cys405=) c.1147T= (p.Cys383=) | |
4 | g.16006572A>C | CA356435174 | PROM1 | c.1420T>G (p.Cys474Gly) c.*1103T>G (n.*1103T>G) c.1393T>G (p.Cys465Gly) c.1478T>G c.1186T>G (p.Cys396Gly) c.1213T>G (p.Cys405Gly) c.1147T>G (p.Cys383Gly) | |
4 | g.16006572A>G | CA356435176 | PROM1 | c.1420T>C (p.Cys474Arg) c.*1103T>C (n.*1103T>C) c.1393T>C (p.Cys465Arg) c.1478T>C c.1186T>C (p.Cys396Arg) c.1213T>C (p.Cys405Arg) c.1147T>C (p.Cys383Arg) | dbSNP gnomAD v2 |
4 | g.16006572A>T | CA356435178 | PROM1 | c.1420T>A (p.Cys474Ser) c.*1103T>A (n.*1103T>A) c.1393T>A (p.Cys465Ser) c.1478T>A c.1186T>A (p.Cys396Ser) c.1213T>A (p.Cys405Ser) c.1147T>A (p.Cys383Ser) | |
4 | g.16006573G>A | CA438386810 | PROM1 | c.1419C>T (p.Gly473=) c.*1102C>T (n.*1102C>T) c.1392C>T (p.Gly464=) c.1477C>T c.1185C>T (p.Gly395=) c.1212C>T (p.Gly404=) c.1146C>T (p.Gly382=) | |
4 | g.16006573G>C | CA438386812 | PROM1 | c.1419C>G (p.Gly473=) c.*1102C>G (n.*1102C>G) c.1392C>G (p.Gly464=) c.1477C>G c.1185C>G (p.Gly395=) c.1212C>G (p.Gly404=) c.1146C>G (p.Gly382=) | |
4 | g.16006573G>T | CA438386813 | PROM1 | c.1419C>A (p.Gly473=) c.*1102C>A (n.*1102C>A) c.1392C>A (p.Gly464=) c.1477C>A c.1185C>A (p.Gly395=) c.1212C>A (p.Gly404=) c.1146C>A (p.Gly382=) | |
4 | g.16006574C>A | CA356435180 | PROM1 | c.1418G>T (p.Gly473Val) c.*1101G>T (n.*1101G>T) c.1391G>T (p.Gly464Val) c.1476G>T c.1184G>T (p.Gly395Val) c.1211G>T (p.Gly404Val) c.1145G>T (p.Gly382Val) | dbSNP gnomAD v4 |
4 | g.16006574C= | CA1440916661 | PROM1 | c.1418G= (p.Gly473=) c.*1101G= (n.*1101G=) c.1391G= (p.Gly464=) c.1476G= c.1184G= (p.Gly395=) c.1211G= (p.Gly404=) c.1145G= (p.Gly382=) | |
4 | g.16006574C>G | CA356435183 | PROM1 | c.1418G>C (p.Gly473Ala) c.*1101G>C (n.*1101G>C) c.1391G>C (p.Gly464Ala) c.1476G>C c.1184G>C (p.Gly395Ala) c.1211G>C (p.Gly404Ala) c.1145G>C (p.Gly382Ala) | |
4 | g.16006574C>T | CA356435181 | PROM1 | c.1418G>A (p.Gly473Asp) c.*1101G>A (n.*1101G>A) c.1391G>A (p.Gly464Asp) c.1476G>A c.1184G>A (p.Gly395Asp) c.1211G>A (p.Gly404Asp) c.1145G>A (p.Gly382Asp) | |
4 | g.16006575C>A | CA356435185 | PROM1 | c.1417G>T (p.Gly473Cys) c.*1100G>T (n.*1100G>T) c.1390G>T (p.Gly464Cys) c.1475G>T c.1183G>T (p.Gly395Cys) c.1210G>T (p.Gly404Cys) c.1144G>T (p.Gly382Cys) | |
4 | g.16006575C= | CA1440916662 | PROM1 | c.1417G= (p.Gly473=) c.*1100G= (n.*1100G=) c.1390G= (p.Gly464=) c.1475G= c.1183G= (p.Gly395=) c.1210G= (p.Gly404=) c.1144G= (p.Gly382=) | |
4 | g.16006575C>G | CA356435187 | PROM1 | c.1417G>C (p.Gly473Arg) c.*1100G>C (n.*1100G>C) c.1390G>C (p.Gly464Arg) c.1475G>C c.1183G>C (p.Gly395Arg) c.1210G>C (p.Gly404Arg) c.1144G>C (p.Gly382Arg) | |
4 | g.16006575C>T | CA2866774 | PROM1 | c.1417G>A (p.Gly473Ser) c.*1100G>A (n.*1100G>A) c.1390G>A (p.Gly464Ser) c.1475G>A c.1183G>A (p.Gly395Ser) c.1210G>A (p.Gly404Ser) c.1144G>A (p.Gly382Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.16006576T>A | CA438386816 | PROM1 | c.1416A>T (p.Arg472=) c.*1099A>T (n.*1099A>T) c.1389A>T (p.Arg463=) c.1474A>T c.1182A>T (p.Arg394=) c.1209A>T (p.Arg403=) c.1143A>T (p.Arg381=) | |
4 | g.16006576T>C | CA438386817 | PROM1 | c.1416A>G (p.Arg472=) c.*1099A>G (n.*1099A>G) c.1389A>G (p.Arg463=) c.1474A>G c.1182A>G (p.Arg394=) c.1209A>G (p.Arg403=) c.1143A>G (p.Arg381=) | |
4 | g.16006576T>G | CA438386818 | PROM1 | c.1416A>C (p.Arg472=) c.*1099A>C (n.*1099A>C) c.1389A>C (p.Arg463=) c.1474A>C c.1182A>C (p.Arg394=) c.1209A>C (p.Arg403=) c.1143A>C (p.Arg381=) | |
4 | g.16006577C>A | CA356435190 | PROM1 | c.1415G>T (p.Arg472Leu) c.*1098G>T (n.*1098G>T) c.1388G>T (p.Arg463Leu) c.1473G>T c.1181G>T (p.Arg394Leu) c.1208G>T (p.Arg403Leu) c.1142G>T (p.Arg381Leu) | |
4 | g.16006577C= | CA1440916663 | PROM1 | c.1415G= (p.Arg472=) c.*1098G= (n.*1098G=) c.1388G= (p.Arg463=) c.1473G= c.1181G= (p.Arg394=) c.1208G= (p.Arg403=) c.1142G= (p.Arg381=) | |
4 | g.16006577C>G | CA356435193 | PROM1 | c.1415G>C (p.Arg472Pro) c.*1098G>C (n.*1098G>C) c.1388G>C (p.Arg463Pro) c.1473G>C c.1181G>C (p.Arg394Pro) c.1208G>C (p.Arg403Pro) c.1142G>C (p.Arg381Pro) | |
4 | g.16006577C>T | CA2866775 | PROM1 | c.1415G>A (p.Arg472Gln) c.*1098G>A (n.*1098G>A) c.1388G>A (p.Arg463Gln) c.1473G>A c.1181G>A (p.Arg394Gln) c.1208G>A (p.Arg403Gln) c.1142G>A (p.Arg381Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.16006578G>A | CA2866776 | PROM1 | c.1414C>T (p.Arg472Ter) c.*1097C>T (n.*1097C>T) c.1387C>T (p.Arg463Ter) c.1472C>T c.1180C>T (p.Arg394Ter) c.1207C>T (p.Arg403Ter) c.1141C>T (p.Arg381Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006578G>C | CA356435196 | PROM1 | c.1414C>G (p.Arg472Gly) c.*1097C>G (n.*1097C>G) c.1387C>G (p.Arg463Gly) c.1472C>G c.1180C>G (p.Arg394Gly) c.1207C>G (p.Arg403Gly) c.1141C>G (p.Arg381Gly) | |
4 | g.16006578G= | CA1440916664 | PROM1 | c.1414C= (p.Arg472=) c.*1097C= (n.*1097C=) c.1387C= (p.Arg463=) c.1472C= c.1180C= (p.Arg394=) c.1207C= (p.Arg403=) c.1141C= (p.Arg381=) | |
4 | g.16006578G>T | CA438386821 | PROM1 | c.1414C>A (p.Arg472=) c.*1097C>A (n.*1097C>A) c.1387C>A (p.Arg463=) c.1472C>A c.1180C>A (p.Arg394=) c.1207C>A (p.Arg403=) c.1141C>A (p.Arg381=) | |
4 | g.16006579_16006580insAGG | CA2580070890 | PROM1 | c.1414_1415insTCC (p.Thr471_Arg472insLeu) c.*1097_*1098insTCC (n.*1097_*1098insTCC) c.1387_1388insTCC (p.Thr462_Arg463insLeu) c.1472_1473insTCC c.1180_1181insTCC (p.Thr393_Arg394insLeu) c.1207_1208insTCC (p.Thr402_Arg403insLeu) c.1141_1142insTCC (p.Thr380_Arg381insLeu) | ClinVar |
4 | g.16006580del | CA2586973707 | PROM1 | c.1414del (p.Arg472GlufsTer18) c.*1097del (n.*1097del) c.1387del (p.Arg463GlufsTer18) c.1472del c.1180del (p.Arg394GlufsTer18) c.1207del (p.Arg403GlufsTer18) c.1141del (p.Arg381GlufsTer18) | |
4 | g.16006579G>A | CA438386822 | PROM1 | c.1413C>T (p.Thr471=) c.*1096C>T (n.*1096C>T) c.1386C>T (p.Thr462=) c.1471C>T c.1179C>T (p.Thr393=) c.1206C>T (p.Thr402=) c.1140C>T (p.Thr380=) | |
4 | g.16006579G>C | CA2866777 | PROM1 | c.1413C>G (p.Thr471=) c.*1096C>G (n.*1096C>G) c.1386C>G (p.Thr462=) c.1471C>G c.1179C>G (p.Thr393=) c.1206C>G (p.Thr402=) c.1140C>G (p.Thr380=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.16006579G= | CA1440916665 | PROM1 | c.1413C= (p.Thr471=) c.*1096C= (n.*1096C=) c.1386C= (p.Thr462=) c.1471C= c.1179C= (p.Thr393=) c.1206C= (p.Thr402=) c.1140C= (p.Thr380=) | |
4 | g.16006579G>T | CA438386824 | PROM1 | c.1413C>A (p.Thr471=) c.*1096C>A (n.*1096C>A) c.1386C>A (p.Thr462=) c.1471C>A c.1179C>A (p.Thr393=) c.1206C>A (p.Thr402=) c.1140C>A (p.Thr380=) | |
4 | g.16006580G>A | CA356435203 | PROM1 | c.1412C>T (p.Thr471Ile) c.*1095C>T (n.*1095C>T) c.1385C>T (p.Thr462Ile) c.1470C>T c.1178C>T (p.Thr393Ile) c.1205C>T (p.Thr402Ile) c.1139C>T (p.Thr380Ile) | |
4 | g.16006580G>C | CA356435206 | PROM1 | c.1412C>G (p.Thr471Ser) c.*1095C>G (n.*1095C>G) c.1385C>G (p.Thr462Ser) c.1470C>G c.1178C>G (p.Thr393Ser) c.1205C>G (p.Thr402Ser) c.1139C>G (p.Thr380Ser) | |
4 | g.16006580G>T | CA356435208 | PROM1 | c.1412C>A (p.Thr471Asn) c.*1095C>A (n.*1095C>A) c.1385C>A (p.Thr462Asn) c.1470C>A c.1178C>A (p.Thr393Asn) c.1205C>A (p.Thr402Asn) c.1139C>A (p.Thr380Asn) | |
4 | g.16006581T>A | CA356435216 | PROM1 | c.1411A>T (p.Thr471Ser) c.*1094A>T (n.*1094A>T) c.1384A>T (p.Thr462Ser) c.1469A>T c.1177A>T (p.Thr393Ser) c.1204A>T (p.Thr402Ser) c.1138A>T (p.Thr380Ser) | |
4 | g.16006581T>C | CA356435212 | PROM1 | c.1411A>G (p.Thr471Ala) c.*1094A>G (n.*1094A>G) c.1384A>G (p.Thr462Ala) c.1469A>G c.1177A>G (p.Thr393Ala) c.1204A>G (p.Thr402Ala) c.1138A>G (p.Thr380Ala) | |
4 | g.16006581T>G | CA356435210 | PROM1 | c.1411A>C (p.Thr471Pro) c.*1094A>C (n.*1094A>C) c.1384A>C (p.Thr462Pro) c.1469A>C c.1177A>C (p.Thr393Pro) c.1204A>C (p.Thr402Pro) c.1138A>C (p.Thr380Pro) | |
4 | g.16006582G>A | CA438386825 | PROM1 | c.1410C>T (p.Thr470=) c.*1093C>T (n.*1093C>T) c.1383C>T (p.Thr461=) c.1468C>T c.1176C>T (p.Thr392=) c.1203C>T (p.Thr401=) c.1137C>T (p.Thr379=) | gnomAD v4 |
4 | g.16006582G>C | CA438386826 | PROM1 | c.1410C>G (p.Thr470=) c.*1093C>G (n.*1093C>G) c.1383C>G (p.Thr461=) c.1468C>G c.1176C>G (p.Thr392=) c.1203C>G (p.Thr401=) c.1137C>G (p.Thr379=) | |
4 | g.16006582G= | CA1440916666 | PROM1 | c.1410C= (p.Thr470=) c.*1093C= (n.*1093C=) c.1383C= (p.Thr461=) c.1468C= c.1176C= (p.Thr392=) c.1203C= (p.Thr401=) c.1137C= (p.Thr379=) | |
4 | g.16006582G>T | CA2866778 | PROM1 | c.1410C>A (p.Thr470=) c.*1093C>A (n.*1093C>A) c.1383C>A (p.Thr461=) c.1468C>A c.1176C>A (p.Thr392=) c.1203C>A (p.Thr401=) c.1137C>A (p.Thr379=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.16006583G>A | CA356435217 | PROM1 | c.1409C>T (p.Thr470Ile) c.*1092C>T (n.*1092C>T) c.1382C>T (p.Thr461Ile) c.1467C>T c.1175C>T (p.Thr392Ile) c.1202C>T (p.Thr401Ile) c.1136C>T (p.Thr379Ile) | |
4 | g.16006583G>C | CA356435218 | PROM1 | c.1409C>G (p.Thr470Ser) c.*1092C>G (n.*1092C>G) c.1382C>G (p.Thr461Ser) c.1467C>G c.1175C>G (p.Thr392Ser) c.1202C>G (p.Thr401Ser) c.1136C>G (p.Thr379Ser) | |
4 | g.16006583G>T | CA356435219 | PROM1 | c.1409C>A (p.Thr470Asn) c.*1092C>A (n.*1092C>A) c.1382C>A (p.Thr461Asn) c.1467C>A c.1175C>A (p.Thr392Asn) c.1202C>A (p.Thr401Asn) c.1136C>A (p.Thr379Asn) | |
4 | g.16006584T>A | CA356435220 | PROM1 | c.1408A>T (p.Thr470Ser) c.*1091A>T (n.*1091A>T) c.1381A>T (p.Thr461Ser) c.1466A>T c.1174A>T (p.Thr392Ser) c.1201A>T (p.Thr401Ser) c.1135A>T (p.Thr379Ser) | COSMIC COSMIC |
4 | g.16006584T>C | CA2866779 | PROM1 | c.1408A>G (p.Thr470Ala) c.*1091A>G (n.*1091A>G) c.1381A>G (p.Thr461Ala) c.1466A>G c.1174A>G (p.Thr392Ala) c.1201A>G (p.Thr401Ala) c.1135A>G (p.Thr379Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006584T>G | CA356435221 | PROM1 | c.1408A>C (p.Thr470Pro) c.*1091A>C (n.*1091A>C) c.1381A>C (p.Thr461Pro) c.1466A>C c.1174A>C (p.Thr392Pro) c.1201A>C (p.Thr401Pro) c.1135A>C (p.Thr379Pro) | |
4 | g.16006584T= | CA1440916667 | PROM1 | c.1408A= (p.Thr470=) c.*1091A= (n.*1091A=) c.1381A= (p.Thr461=) c.1466A= c.1174A= (p.Thr392=) c.1201A= (p.Thr401=) c.1135A= (p.Thr379=) | |
4 | g.16006585C>A | CA438386831 | PROM1 | c.1407G>T (p.Pro469=) c.*1090G>T (n.*1090G>T) c.1380G>T (p.Pro460=) c.1465G>T c.1173G>T (p.Pro391=) c.1200G>T (p.Pro400=) c.1134G>T (p.Pro378=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.16006585C= | CA1440916668 | PROM1 | c.1407G= (p.Pro469=) c.*1090G= (n.*1090G=) c.1380G= (p.Pro460=) c.1465G= c.1173G= (p.Pro391=) c.1200G= (p.Pro400=) c.1134G= (p.Pro378=) | |
4 | g.16006585C>G | CA438386832 | PROM1 | c.1407G>C (p.Pro469=) c.*1090G>C (n.*1090G>C) c.1380G>C (p.Pro460=) c.1465G>C c.1173G>C (p.Pro391=) c.1200G>C (p.Pro400=) c.1134G>C (p.Pro378=) | gnomAD v4 |
4 | g.16006585C>T | CA2866780 | PROM1 | c.1407G>A (p.Pro469=) c.*1090G>A (n.*1090G>A) c.1380G>A (p.Pro460=) c.1465G>A c.1173G>A (p.Pro391=) c.1200G>A (p.Pro400=) c.1134G>A (p.Pro378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006585_16006586insA | CA2670099976 | PROM1 | c.1406_1407insT (p.Thr470AspfsTer?) c.*1089_*1090insT (n.*1089_*1090insT) c.1379_1380insT (p.Thr461AspfsTer?) c.1464_1465insT c.1172_1173insT (p.Thr392AspfsTer?) c.1199_1200insT (p.Thr401AspfsTer?) c.1133_1134insT (p.Thr379AspfsTer?) | gnomAD v4 |
4 | g.16006586G>A | CA356435223 | PROM1 | c.1406C>T (p.Pro469Leu) c.*1089C>T (n.*1089C>T) c.1379C>T (p.Pro460Leu) c.1464C>T c.1172C>T (p.Pro391Leu) c.1199C>T (p.Pro400Leu) c.1133C>T (p.Pro378Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006586G>C | CA356435228 | PROM1 | c.1406C>G (p.Pro469Arg) c.*1089C>G (n.*1089C>G) c.1379C>G (p.Pro460Arg) c.1464C>G c.1172C>G (p.Pro391Arg) c.1199C>G (p.Pro400Arg) c.1133C>G (p.Pro378Arg) | gnomAD v4 |
4 | g.16006586G= | CA1440916669 | PROM1 | c.1406C= (p.Pro469=) c.*1089C= (n.*1089C=) c.1379C= (p.Pro460=) c.1464C= c.1172C= (p.Pro391=) c.1199C= (p.Pro400=) c.1133C= (p.Pro378=) | |
4 | g.16006586G>T | CA356435229 | PROM1 | c.1406C>A (p.Pro469Gln) c.*1089C>A (n.*1089C>A) c.1379C>A (p.Pro460Gln) c.1464C>A c.1172C>A (p.Pro391Gln) c.1199C>A (p.Pro400Gln) c.1133C>A (p.Pro378Gln) | |
4 | g.16006589dup | CA2838429182 | PROM1 | c.1406dup (p.Thr470AspfsTer?) c.*1089dup (n.*1089dup) c.1379dup (p.Thr461AspfsTer?) c.1464dup c.1172dup (p.Thr392AspfsTer?) c.1199dup (p.Thr401AspfsTer?) c.1133dup (p.Thr379AspfsTer?) | |
4 | g.16006587G>A | CA356435231 | PROM1 | c.1405C>T (p.Pro469Ser) c.*1088C>T (n.*1088C>T) c.1378C>T (p.Pro460Ser) c.1463C>T c.1171C>T (p.Pro391Ser) c.1198C>T (p.Pro400Ser) c.1132C>T (p.Pro378Ser) | |
4 | g.16006587G>C | CA356435233 | PROM1 | c.1405C>G (p.Pro469Ala) c.*1088C>G (n.*1088C>G) c.1378C>G (p.Pro460Ala) c.1463C>G c.1171C>G (p.Pro391Ala) c.1198C>G (p.Pro400Ala) c.1132C>G (p.Pro378Ala) | |
4 | g.16006587G= | CA1440916670 | PROM1 | c.1405C= (p.Pro469=) c.*1088C= (n.*1088C=) c.1378C= (p.Pro460=) c.1463C= c.1171C= (p.Pro391=) c.1198C= (p.Pro400=) c.1132C= (p.Pro378=) | |
4 | g.16006587G>T | CA2866781 | PROM1 | c.1405C>A (p.Pro469Thr) c.*1088C>A (n.*1088C>A) c.1378C>A (p.Pro460Thr) c.1463C>A c.1171C>A (p.Pro391Thr) c.1198C>A (p.Pro400Thr) c.1132C>A (p.Pro378Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.16006588G>A | CA438386834 | PROM1 | c.1404C>T (p.Thr468=) c.*1087C>T (n.*1087C>T) c.1377C>T (p.Thr459=) c.1462C>T c.1170C>T (p.Thr390=) c.1197C>T (p.Thr399=) c.1131C>T (p.Thr377=) | |
4 | g.16006588G>C | CA438386836 | PROM1 | c.1404C>G (p.Thr468=) c.*1087C>G (n.*1087C>G) c.1377C>G (p.Thr459=) c.1462C>G c.1170C>G (p.Thr390=) c.1197C>G (p.Thr399=) c.1131C>G (p.Thr377=) | |
4 | g.16006588G>T | CA438386838 | PROM1 | c.1404C>A (p.Thr468=) c.*1087C>A (n.*1087C>A) c.1377C>A (p.Thr459=) c.1462C>A c.1170C>A (p.Thr390=) c.1197C>A (p.Thr399=) c.1131C>A (p.Thr377=) | |
4 | g.16006589G>A | CA356435246 | PROM1 | c.1403C>T (p.Thr468Ile) c.*1086C>T (n.*1086C>T) c.1376C>T (p.Thr459Ile) c.1461C>T c.1169C>T (p.Thr390Ile) c.1196C>T (p.Thr399Ile) c.1130C>T (p.Thr377Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006589G>C | CA356435245 | PROM1 | c.1403C>G (p.Thr468Ser) c.*1086C>G (n.*1086C>G) c.1376C>G (p.Thr459Ser) c.1461C>G c.1169C>G (p.Thr390Ser) c.1196C>G (p.Thr399Ser) c.1130C>G (p.Thr377Ser) | |
4 | g.16006589G= | CA1440916671 | PROM1 | c.1403C= (p.Thr468=) c.*1086C= (n.*1086C=) c.1376C= (p.Thr459=) c.1461C= c.1169C= (p.Thr390=) c.1196C= (p.Thr399=) c.1130C= (p.Thr377=) | |
4 | g.16006589G>T | CA92594498 | PROM1 | c.1403C>A (p.Thr468Asn) c.*1086C>A (n.*1086C>A) c.1376C>A (p.Thr459Asn) c.1461C>A c.1169C>A (p.Thr390Asn) c.1196C>A (p.Thr399Asn) c.1130C>A (p.Thr377Asn) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.16006590T>A | CA356435248 | PROM1 | c.1402A>T (p.Thr468Ser) c.*1085A>T (n.*1085A>T) c.1375A>T (p.Thr459Ser) c.1460A>T c.1168A>T (p.Thr390Ser) c.1195A>T (p.Thr399Ser) c.1129A>T (p.Thr377Ser) | |
4 | g.16006590T>C | CA356435250 | PROM1 | c.1402A>G (p.Thr468Ala) c.*1085A>G (n.*1085A>G) c.1375A>G (p.Thr459Ala) c.1460A>G c.1168A>G (p.Thr390Ala) c.1195A>G (p.Thr399Ala) c.1129A>G (p.Thr377Ala) | |
4 | g.16006590T>G | CA356435252 | PROM1 | c.1402A>C (p.Thr468Pro) c.*1085A>C (n.*1085A>C) c.1375A>C (p.Thr459Pro) c.1460A>C c.1168A>C (p.Thr390Pro) c.1195A>C (p.Thr399Pro) c.1129A>C (p.Thr377Pro) | dbSNP |
4 | g.16006590T= | CA1440916672 | PROM1 | c.1402A= (p.Thr468=) c.*1085A= (n.*1085A=) c.1375A= (p.Thr459=) c.1460A= c.1168A= (p.Thr390=) c.1195A= (p.Thr399=) c.1129A= (p.Thr377=) | |
4 | g.16006591G>A | CA438386843 | PROM1 | c.1401C>T (p.Ala467=) c.*1084C>T (n.*1084C>T) c.1374C>T (p.Ala458=) c.1459C>T c.1167C>T (p.Ala389=) c.1194C>T (p.Ala398=) c.1128C>T (p.Ala376=) | dbSNP gnomAD v4 |
4 | g.16006591G>C | CA438386842 | PROM1 | c.1401C>G (p.Ala467=) c.*1084C>G (n.*1084C>G) c.1374C>G (p.Ala458=) c.1459C>G c.1167C>G (p.Ala389=) c.1194C>G (p.Ala398=) c.1128C>G (p.Ala376=) | |
4 | g.16006591G= | CA1440916673 | PROM1 | c.1401C= (p.Ala467=) c.*1084C= (n.*1084C=) c.1374C= (p.Ala458=) c.1459C= c.1167C= (p.Ala389=) c.1194C= (p.Ala398=) c.1128C= (p.Ala376=) | |
4 | g.16006591G>T | CA438386841 | PROM1 | c.1401C>A (p.Ala467=) c.*1084C>A (n.*1084C>A) c.1374C>A (p.Ala458=) c.1459C>A c.1167C>A (p.Ala389=) c.1194C>A (p.Ala398=) c.1128C>A (p.Ala376=) | |
4 | g.16006592G>A | CA356435254 | PROM1 | c.1400C>T (p.Ala467Val) c.*1083C>T (n.*1083C>T) c.1373C>T (p.Ala458Val) c.1458C>T c.1166C>T (p.Ala389Val) c.1193C>T (p.Ala398Val) c.1127C>T (p.Ala376Val) | gnomAD v4 |
4 | g.16006592G>C | CA356435256 | PROM1 | c.1400C>G (p.Ala467Gly) c.*1083C>G (n.*1083C>G) c.1373C>G (p.Ala458Gly) c.1458C>G c.1166C>G (p.Ala389Gly) c.1193C>G (p.Ala398Gly) c.1127C>G (p.Ala376Gly) | |
4 | g.16006592G>T | CA356435257 | PROM1 | c.1400C>A (p.Ala467Asp) c.*1083C>A (n.*1083C>A) c.1373C>A (p.Ala458Asp) c.1458C>A c.1166C>A (p.Ala389Asp) c.1193C>A (p.Ala398Asp) c.1127C>A (p.Ala376Asp) | |
4 | g.16006593C>A | CA356435259 | PROM1 | c.1399G>T (p.Ala467Ser) c.*1082G>T (n.*1082G>T) c.1372G>T (p.Ala458Ser) c.1457G>T c.1165G>T (p.Ala389Ser) c.1192G>T (p.Ala398Ser) c.1126G>T (p.Ala376Ser) | |
4 | g.16006593C>G | CA356435260 | PROM1 | c.1399G>C (p.Ala467Pro) c.*1082G>C (n.*1082G>C) c.1372G>C (p.Ala458Pro) c.1457G>C c.1165G>C (p.Ala389Pro) c.1192G>C (p.Ala398Pro) c.1126G>C (p.Ala376Pro) | |
4 | g.16006593C>T | CA356435262 | PROM1 | c.1399G>A (p.Ala467Thr) c.*1082G>A (n.*1082G>A) c.1372G>A (p.Ala458Thr) c.1457G>A c.1165G>A (p.Ala389Thr) c.1192G>A (p.Ala398Thr) c.1126G>A (p.Ala376Thr) | gnomAD v4 COSMIC COSMIC |
4 | g.16006594A>C | CA356435264 | PROM1 | c.1398T>G (p.His466Gln) c.*1081T>G (n.*1081T>G) c.1371T>G (p.His457Gln) c.1456T>G c.1164T>G (p.His388Gln) c.1191T>G (p.His397Gln) c.1125T>G (p.His375Gln) | |
4 | g.16006594A>G | CA438386847 | PROM1 | c.1398T>C (p.His466=) c.*1081T>C (n.*1081T>C) c.1371T>C (p.His457=) c.1456T>C c.1164T>C (p.His388=) c.1191T>C (p.His397=) c.1125T>C (p.His375=) | |
4 | g.16006594A>T | CA356435266 | PROM1 | c.1398T>A (p.His466Gln) c.*1081T>A (n.*1081T>A) c.1371T>A (p.His457Gln) c.1456T>A c.1164T>A (p.His388Gln) c.1191T>A (p.His397Gln) c.1125T>A (p.His375Gln) | |
4 | g.16006595T>A | CA356435269 | PROM1 | c.1397A>T (p.His466Leu) c.*1080A>T (n.*1080A>T) c.1370A>T (p.His457Leu) c.1455A>T c.1163A>T (p.His388Leu) c.1190A>T (p.His397Leu) c.1124A>T (p.His375Leu) | |
4 | g.16006595T>C | CA356435271 | PROM1 | c.1397A>G (p.His466Arg) c.*1080A>G (n.*1080A>G) c.1370A>G (p.His457Arg) c.1455A>G c.1163A>G (p.His388Arg) c.1190A>G (p.His397Arg) c.1124A>G (p.His375Arg) | gnomAD v4 |
4 | g.16006595T>G | CA356435272 | PROM1 | c.1397A>C (p.His466Pro) c.*1080A>C (n.*1080A>C) c.1370A>C (p.His457Pro) c.1455A>C c.1163A>C (p.His388Pro) c.1190A>C (p.His397Pro) c.1124A>C (p.His375Pro) | |
4 | g.16006596G>A | CA356435276 | PROM1 | c.1396C>T (p.His466Tyr) c.*1079C>T (n.*1079C>T) c.1369C>T (p.His457Tyr) c.1454C>T c.1162C>T (p.His388Tyr) c.1189C>T (p.His397Tyr) c.1123C>T (p.His375Tyr) | dbSNP |
4 | g.16006596G>C | CA356435278 | PROM1 | c.1396C>G (p.His466Asp) c.*1079C>G (n.*1079C>G) c.1369C>G (p.His457Asp) c.1454C>G c.1162C>G (p.His388Asp) c.1189C>G (p.His397Asp) c.1123C>G (p.His375Asp) | |
4 | g.16006596G= | CA1440916674 | PROM1 | c.1396C= (p.His466=) c.*1079C= (n.*1079C=) c.1369C= (p.His457=) c.1454C= c.1162C= (p.His388=) c.1189C= (p.His397=) c.1123C= (p.His375=) | |
4 | g.16006596G>T | CA356435274 | PROM1 | c.1396C>A (p.His466Asn) c.*1079C>A (n.*1079C>A) c.1369C>A (p.His457Asn) c.1454C>A c.1162C>A (p.His388Asn) c.1189C>A (p.His397Asn) c.1123C>A (p.His375Asn) | |
4 | g.16006597C>A | CA356435280 | PROM1 | c.1395G>T (p.Arg465Ser) c.*1078G>T (n.*1078G>T) c.1368G>T (p.Arg456Ser) c.1453G>T c.1161G>T (p.Arg387Ser) c.1188G>T (p.Arg396Ser) c.1122G>T (p.Arg374Ser) | |
4 | g.16006597C= | CA1440916675 | PROM1 | c.1395G= (p.Arg465=) c.*1078G= (n.*1078G=) c.1368G= (p.Arg456=) c.1453G= c.1161G= (p.Arg387=) c.1188G= (p.Arg396=) c.1122G= (p.Arg374=) | |
4 | g.16006597C>G | CA356435282 | PROM1 | c.1395G>C (p.Arg465Ser) c.*1078G>C (n.*1078G>C) c.1368G>C (p.Arg456Ser) c.1453G>C c.1161G>C (p.Arg387Ser) c.1188G>C (p.Arg396Ser) c.1122G>C (p.Arg374Ser) | |
4 | g.16006597C>T | CA2866782 | PROM1 | c.1395G>A (p.Arg465=) c.*1078G>A (n.*1078G>A) c.1368G>A (p.Arg456=) c.1453G>A c.1161G>A (p.Arg387=) c.1188G>A (p.Arg396=) c.1122G>A (p.Arg374=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.16006598C>A | CA356435285 | PROM1 | c.1394G>T (p.Arg465Met) c.*1077G>T (n.*1077G>T) c.1367G>T (p.Arg456Met) c.1452G>T c.1160G>T (p.Arg387Met) c.1187G>T (p.Arg396Met) c.1121G>T (p.Arg374Met) | |
4 | g.16006598C= | CA1440916676 | PROM1 | c.1394G= (p.Arg465=) c.*1077G= (n.*1077G=) c.1367G= (p.Arg456=) c.1452G= c.1160G= (p.Arg387=) c.1187G= (p.Arg396=) c.1121G= (p.Arg374=) | |
4 | g.16006598C>G | CA356435291 | PROM1 | c.1394G>C (p.Arg465Thr) c.*1077G>C (n.*1077G>C) c.1367G>C (p.Arg456Thr) c.1452G>C c.1160G>C (p.Arg387Thr) c.1187G>C (p.Arg396Thr) c.1121G>C (p.Arg374Thr) | |
4 | g.16006598C>T | CA356435294 | PROM1 | c.1394G>A (p.Arg465Lys) c.*1077G>A (n.*1077G>A) c.1367G>A (p.Arg456Lys) c.1452G>A c.1160G>A (p.Arg387Lys) c.1187G>A (p.Arg396Lys) c.1121G>A (p.Arg374Lys) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.16006599T>A | CA356435296 | PROM1 | c.1393A>T (p.Arg465Trp) c.*1076A>T (n.*1076A>T) c.1366A>T (p.Arg456Trp) c.1451A>T c.1159A>T (p.Arg387Trp) c.1186A>T (p.Arg396Trp) c.1120A>T (p.Arg374Trp) | |
4 | g.16006599T>C | CA356435302 | PROM1 | c.1393A>G (p.Arg465Gly) c.*1076A>G (n.*1076A>G) c.1366A>G (p.Arg456Gly) c.1451A>G c.1159A>G (p.Arg387Gly) c.1186A>G (p.Arg396Gly) c.1120A>G (p.Arg374Gly) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.16006599T>G | CA438386852 | PROM1 | c.1393A>C (p.Arg465=) c.*1076A>C (n.*1076A>C) c.1366A>C (p.Arg456=) c.1451A>C c.1159A>C (p.Arg387=) c.1186A>C (p.Arg396=) c.1120A>C (p.Arg374=) | |
4 | g.16006599T= | CA1440916677 | PROM1 | c.1393A= (p.Arg465=) c.*1076A= (n.*1076A=) c.1366A= (p.Arg456=) c.1451A= c.1159A= (p.Arg387=) c.1186A= (p.Arg396=) c.1120A= (p.Arg374=) | |
4 | g.16006600G>A | CA438386853 | PROM1 | c.1392C>T (p.Asp464=) c.*1075C>T (n.*1075C>T) c.1365C>T (p.Asp455=) c.1450C>T c.1158C>T (p.Asp386=) c.1185C>T (p.Asp395=) c.1119C>T (p.Asp373=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.16006600G>C | CA356435303 | PROM1 | c.1392C>G (p.Asp464Glu) c.*1075C>G (n.*1075C>G) c.1365C>G (p.Asp455Glu) c.1450C>G c.1158C>G (p.Asp386Glu) c.1185C>G (p.Asp395Glu) c.1119C>G (p.Asp373Glu) | |
4 | g.16006600G= | CA1440916678 | PROM1 | c.1392C= (p.Asp464=) c.*1075C= (n.*1075C=) c.1365C= (p.Asp455=) c.1450C= c.1158C= (p.Asp386=) c.1185C= (p.Asp395=) c.1119C= (p.Asp373=) | |
4 | g.16006600G>T | CA356435305 | PROM1 | c.1392C>A (p.Asp464Glu) c.*1075C>A (n.*1075C>A) c.1365C>A (p.Asp455Glu) c.1450C>A c.1158C>A (p.Asp386Glu) c.1185C>A (p.Asp395Glu) c.1119C>A (p.Asp373Glu) | gnomAD v4 |
4 | g.16006601T>A | CA356435311 | PROM1 | c.1391A>T (p.Asp464Val) c.*1074A>T (n.*1074A>T) c.1364A>T (p.Asp455Val) c.1449A>T c.1157A>T (p.Asp386Val) c.1184A>T (p.Asp395Val) c.1118A>T (p.Asp373Val) | |
4 | g.16006601T>C | CA356435313 | PROM1 | c.1391A>G (p.Asp464Gly) c.*1074A>G (n.*1074A>G) c.1364A>G (p.Asp455Gly) c.1449A>G c.1157A>G (p.Asp386Gly) c.1184A>G (p.Asp395Gly) c.1118A>G (p.Asp373Gly) | |
4 | g.16006601T>G | CA356435317 | PROM1 | c.1391A>C (p.Asp464Ala) c.*1074A>C (n.*1074A>C) c.1364A>C (p.Asp455Ala) c.1449A>C c.1157A>C (p.Asp386Ala) c.1184A>C (p.Asp395Ala) c.1118A>C (p.Asp373Ala) | |
4 | g.16006602C>A | CA356435323 | PROM1 | c.1390G>T (p.Asp464Tyr) c.*1073G>T (n.*1073G>T) c.1363G>T (p.Asp455Tyr) c.1448G>T c.1156G>T (p.Asp386Tyr) c.1183G>T (p.Asp395Tyr) c.1117G>T (p.Asp373Tyr) | |
4 | g.16006602C>G | CA356435320 | PROM1 | c.1390G>C (p.Asp464His) c.*1073G>C (n.*1073G>C) c.1363G>C (p.Asp455His) c.1448G>C c.1156G>C (p.Asp386His) c.1183G>C (p.Asp395His) c.1117G>C (p.Asp373His) | |
4 | g.16006602C>T | CA356435322 | PROM1 | c.1390G>A (p.Asp464Asn) c.*1073G>A (n.*1073G>A) c.1363G>A (p.Asp455Asn) c.1448G>A c.1156G>A (p.Asp386Asn) c.1183G>A (p.Asp395Asn) c.1117G>A (p.Asp373Asn) | |
4 | g.16006603A= | CA1440916679 | PROM1 | c.1389T= (p.Tyr463=) c.*1072T= (n.*1072T=) c.1362T= (p.Tyr454=) c.1447T= c.1155T= (p.Tyr385=) c.1182T= (p.Tyr394=) c.1116T= (p.Tyr372=) | |
4 | g.16006603A>C | CA356435324 | PROM1 | c.1389T>G (p.Tyr463Ter) c.*1072T>G (n.*1072T>G) c.1362T>G (p.Tyr454Ter) c.1447T>G c.1155T>G (p.Tyr385Ter) c.1182T>G (p.Tyr394Ter) c.1116T>G (p.Tyr372Ter) | |
4 | g.16006603A>G | CA438386854 | PROM1 | c.1389T>C (p.Tyr463=) c.*1072T>C (n.*1072T>C) c.1362T>C (p.Tyr454=) c.1447T>C c.1155T>C (p.Tyr385=) c.1182T>C (p.Tyr394=) c.1116T>C (p.Tyr372=) | gnomAD v4 |
4 | g.16006603A>T | CA2866783 | PROM1 | c.1389T>A (p.Tyr463Ter) c.*1072T>A (n.*1072T>A) c.1362T>A (p.Tyr454Ter) c.1447T>A c.1155T>A (p.Tyr385Ter) c.1182T>A (p.Tyr394Ter) c.1116T>A (p.Tyr372Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.16006604T>A | CA356435325 | PROM1 | c.1388A>T (p.Tyr463Phe) c.*1071A>T (n.*1071A>T) c.1361A>T (p.Tyr454Phe) c.1446A>T c.1154A>T (p.Tyr385Phe) c.1181A>T (p.Tyr394Phe) c.1115A>T (p.Tyr372Phe) | |
4 | g.16006604T>C | CA2866784 | PROM1 | c.1388A>G (p.Tyr463Cys) c.*1071A>G (n.*1071A>G) c.1361A>G (p.Tyr454Cys) c.1446A>G c.1154A>G (p.Tyr385Cys) c.1181A>G (p.Tyr394Cys) c.1115A>G (p.Tyr372Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006604T>G | CA356435326 | PROM1 | c.1388A>C (p.Tyr463Ser) c.*1071A>C (n.*1071A>C) c.1361A>C (p.Tyr454Ser) c.1446A>C c.1154A>C (p.Tyr385Ser) c.1181A>C (p.Tyr394Ser) c.1115A>C (p.Tyr372Ser) | |
4 | g.16006604T= | CA1440916680 | PROM1 | c.1388A= (p.Tyr463=) c.*1071A= (n.*1071A=) c.1361A= (p.Tyr454=) c.1446A= c.1154A= (p.Tyr385=) c.1181A= (p.Tyr394=) c.1115A= (p.Tyr372=) | |
4 | g.16006605A= | CA1440916681 | PROM1 | c.1387T= (p.Tyr463=) c.*1070T= (n.*1070T=) c.1360T= (p.Tyr454=) c.1445T= c.1153T= (p.Tyr385=) c.1180T= (p.Tyr394=) c.1114T= (p.Tyr372=) | |
4 | g.16006605A>C | CA356435327 | PROM1 | c.1387T>G (p.Tyr463Asp) c.*1070T>G (n.*1070T>G) c.1360T>G (p.Tyr454Asp) c.1445T>G c.1153T>G (p.Tyr385Asp) c.1180T>G (p.Tyr394Asp) c.1114T>G (p.Tyr372Asp) | |
4 | g.16006605A>G | CA356435328 | PROM1 | c.1387T>C (p.Tyr463His) c.*1070T>C (n.*1070T>C) c.1360T>C (p.Tyr454His) c.1445T>C c.1153T>C (p.Tyr385His) c.1180T>C (p.Tyr394His) c.1114T>C (p.Tyr372His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.16006605A>T | CA356435329 | PROM1 | c.1387T>A (p.Tyr463Asn) c.*1070T>A (n.*1070T>A) c.1360T>A (p.Tyr454Asn) c.1445T>A c.1153T>A (p.Tyr385Asn) c.1180T>A (p.Tyr394Asn) c.1114T>A (p.Tyr372Asn) | |
4 | g.16006606_16006620del | CA2670099977 | PROM1 | c.1373_1387del (p.Cys458_Gly462del) c.*1056_*1070del (n.*1056_*1070del) c.1346_1360del (p.Cys449_Gly453del) c.1431_1445del c.1139_1153del (p.Cys380_Gly384del) c.1166_1180del (p.Cys389_Gly393del) c.1100_1114del (p.Cys367_Gly371del) | gnomAD v4 |
4 | g.16006606G>A | CA2866785 | PROM1 | c.1386C>T (p.Gly462=) c.*1069C>T (n.*1069C>T) c.1359C>T (p.Gly453=) c.1444C>T c.1152C>T (p.Gly384=) c.1179C>T (p.Gly393=) c.1113C>T (p.Gly371=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.16006606G>C | CA438386856 | PROM1 | c.1386C>G (p.Gly462=) c.*1069C>G (n.*1069C>G) c.1359C>G (p.Gly453=) c.1444C>G c.1152C>G (p.Gly384=) c.1179C>G (p.Gly393=) c.1113C>G (p.Gly371=) | |
4 | g.16006606G= | CA1440916682 | PROM1 | c.1386C= (p.Gly462=) c.*1069C= (n.*1069C=) c.1359C= (p.Gly453=) c.1444C= c.1152C= (p.Gly384=) c.1179C= (p.Gly393=) c.1113C= (p.Gly371=) | |
4 | g.16006606G>T | CA438386857 | PROM1 | c.1386C>A (p.Gly462=) c.*1069C>A (n.*1069C>A) c.1359C>A (p.Gly453=) c.1444C>A c.1152C>A (p.Gly384=) c.1179C>A (p.Gly393=) c.1113C>A (p.Gly371=) | |
4 | g.16006607C>A | CA356435332 | PROM1 | c.1385G>T (p.Gly462Val) c.*1068G>T (n.*1068G>T) c.1358G>T (p.Gly453Val) c.1443G>T c.1151G>T (p.Gly384Val) c.1178G>T (p.Gly393Val) c.1112G>T (p.Gly371Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006607C= | CA1440916683 | PROM1 | c.1385G= (p.Gly462=) c.*1068G= (n.*1068G=) c.1358G= (p.Gly453=) c.1443G= c.1151G= (p.Gly384=) c.1178G= (p.Gly393=) c.1112G= (p.Gly371=) | |
4 | g.16006607C>G | CA356435333 | PROM1 | c.1385G>C (p.Gly462Ala) c.*1068G>C (n.*1068G>C) c.1358G>C (p.Gly453Ala) c.1443G>C c.1151G>C (p.Gly384Ala) c.1178G>C (p.Gly393Ala) c.1112G>C (p.Gly371Ala) | |
4 | g.16006607C>T | CA356435334 | PROM1 | c.1385G>A (p.Gly462Asp) c.*1068G>A (n.*1068G>A) c.1358G>A (p.Gly453Asp) c.1443G>A c.1151G>A (p.Gly384Asp) c.1178G>A (p.Gly393Asp) c.1112G>A (p.Gly371Asp) | gnomAD v4 |
4 | g.16006608C>A | CA356435337 | PROM1 | c.1384G>T (p.Gly462Cys) c.*1067G>T (n.*1067G>T) c.1357G>T (p.Gly453Cys) c.1442G>T c.1150G>T (p.Gly384Cys) c.1177G>T (p.Gly393Cys) c.1111G>T (p.Gly371Cys) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.16006608C= | CA1440916684 | PROM1 | c.1384G= (p.Gly462=) c.*1067G= (n.*1067G=) c.1357G= (p.Gly453=) c.1442G= c.1150G= (p.Gly384=) c.1177G= (p.Gly393=) c.1111G= (p.Gly371=) | |
4 | g.16006608C>G | CA356435335 | PROM1 | c.1384G>C (p.Gly462Arg) c.*1067G>C (n.*1067G>C) c.1357G>C (p.Gly453Arg) c.1442G>C c.1150G>C (p.Gly384Arg) c.1177G>C (p.Gly393Arg) c.1111G>C (p.Gly371Arg) | |
4 | g.16006608C>T | CA2866786 | PROM1 | c.1384G>A (p.Gly462Ser) c.*1067G>A (n.*1067G>A) c.1357G>A (p.Gly453Ser) c.1442G>A c.1150G>A (p.Gly384Ser) c.1177G>A (p.Gly393Ser) c.1111G>A (p.Gly371Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006609G>A | CA2866787 | PROM1 | c.1383C>T (p.Cys461=) c.*1066C>T (n.*1066C>T) c.1356C>T (p.Cys452=) c.1441C>T c.1149C>T (p.Cys383=) c.1176C>T (p.Cys392=) c.1110C>T (p.Cys370=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006609G>C | CA356435342 | PROM1 | c.1383C>G (p.Cys461Trp) c.*1066C>G (n.*1066C>G) c.1356C>G (p.Cys452Trp) c.1441C>G c.1149C>G (p.Cys383Trp) c.1176C>G (p.Cys392Trp) c.1110C>G (p.Cys370Trp) | |
4 | g.16006609G= | CA1440916685 | PROM1 | c.1383C= (p.Cys461=) c.*1066C= (n.*1066C=) c.1356C= (p.Cys452=) c.1441C= c.1149C= (p.Cys383=) c.1176C= (p.Cys392=) c.1110C= (p.Cys370=) | |
4 | g.16006609G>T | CA356435340 | PROM1 | c.1383C>A (p.Cys461Ter) c.*1066C>A (n.*1066C>A) c.1356C>A (p.Cys452Ter) c.1441C>A c.1149C>A (p.Cys383Ter) c.1176C>A (p.Cys392Ter) c.1110C>A (p.Cys370Ter) | |
4 | g.16006610C>A | CA356435344 | PROM1 | c.1382G>T (p.Cys461Phe) c.*1065G>T (n.*1065G>T) c.1355G>T (p.Cys452Phe) c.1440G>T c.1148G>T (p.Cys383Phe) c.1175G>T (p.Cys392Phe) c.1109G>T (p.Cys370Phe) | |
4 | g.16006610C>G | CA356435346 | PROM1 | c.1382G>C (p.Cys461Ser) c.*1065G>C (n.*1065G>C) c.1355G>C (p.Cys452Ser) c.1440G>C c.1148G>C (p.Cys383Ser) c.1175G>C (p.Cys392Ser) c.1109G>C (p.Cys370Ser) | |
4 | g.16006610C>T | CA356435348 | PROM1 | c.1382G>A (p.Cys461Tyr) c.*1065G>A (n.*1065G>A) c.1355G>A (p.Cys452Tyr) c.1440G>A c.1148G>A (p.Cys383Tyr) c.1175G>A (p.Cys392Tyr) c.1109G>A (p.Cys370Tyr) | |
4 | g.16006611A>C | CA356435349 | PROM1 | c.1381T>G (p.Cys461Gly) c.*1064T>G (n.*1064T>G) c.1354T>G (p.Cys452Gly) c.1439T>G c.1147T>G (p.Cys383Gly) c.1174T>G (p.Cys392Gly) c.1108T>G (p.Cys370Gly) | |
4 | g.16006611A>G | CA356435351 | PROM1 | c.1381T>C (p.Cys461Arg) c.*1064T>C (n.*1064T>C) c.1354T>C (p.Cys452Arg) c.1439T>C c.1147T>C (p.Cys383Arg) c.1174T>C (p.Cys392Arg) c.1108T>C (p.Cys370Arg) | gnomAD v4 |
4 | g.16006611A>T | CA356435353 | PROM1 | c.1381T>A (p.Cys461Ser) c.*1064T>A (n.*1064T>A) c.1354T>A (p.Cys452Ser) c.1439T>A c.1147T>A (p.Cys383Ser) c.1174T>A (p.Cys392Ser) c.1108T>A (p.Cys370Ser) | |
4 | g.16006612C>A | CA438386865 | PROM1 | c.1380G>T (p.Val460=) c.*1063G>T (n.*1063G>T) c.1353G>T (p.Val451=) c.1438G>T c.1146G>T (p.Val382=) c.1173G>T (p.Val391=) c.1107G>T (p.Val369=) | |
4 | g.16006612C= | CA1440916686 | PROM1 | c.1380G= (p.Val460=) c.*1063G= (n.*1063G=) c.1353G= (p.Val451=) c.1438G= c.1146G= (p.Val382=) c.1173G= (p.Val391=) c.1107G= (p.Val369=) | |
4 | g.16006612C>G | CA92594539 | PROM1 | c.1380G>C (p.Val460=) c.*1063G>C (n.*1063G>C) c.1353G>C (p.Val451=) c.1438G>C c.1146G>C (p.Val382=) c.1173G>C (p.Val391=) c.1107G>C (p.Val369=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006612C>T | CA438386864 | PROM1 | c.1380G>A (p.Val460=) c.*1063G>A (n.*1063G>A) c.1353G>A (p.Val451=) c.1438G>A c.1146G>A (p.Val382=) c.1173G>A (p.Val391=) c.1107G>A (p.Val369=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.16006613A>C | CA356435354 | PROM1 | c.1379T>G (p.Val460Gly) c.*1062T>G (n.*1062T>G) c.1352T>G (p.Val451Gly) c.1437T>G c.1145T>G (p.Val382Gly) c.1172T>G (p.Val391Gly) c.1106T>G (p.Val369Gly) | |
4 | g.16006613A>G | CA356435355 | PROM1 | c.1379T>C (p.Val460Ala) c.*1062T>C (n.*1062T>C) c.1352T>C (p.Val451Ala) c.1437T>C c.1145T>C (p.Val382Ala) c.1172T>C (p.Val391Ala) c.1106T>C (p.Val369Ala) | gnomAD v4 |
4 | g.16006613A>T | CA356435356 | PROM1 | c.1379T>A (p.Val460Glu) c.*1062T>A (n.*1062T>A) c.1352T>A (p.Val451Glu) c.1437T>A c.1145T>A (p.Val382Glu) c.1172T>A (p.Val391Glu) c.1106T>A (p.Val369Glu) | |
4 | g.16006614C>A | CA356435357 | PROM1 | c.1378G>T (p.Val460Leu) c.*1061G>T (n.*1061G>T) c.1351G>T (p.Val451Leu) c.1436G>T c.1144G>T (p.Val382Leu) c.1171G>T (p.Val391Leu) c.1105G>T (p.Val369Leu) | |
4 | g.16006614C= | CA1440916687 | PROM1 | c.1378G= (p.Val460=) c.*1061G= (n.*1061G=) c.1351G= (p.Val451=) c.1436G= c.1144G= (p.Val382=) c.1171G= (p.Val391=) c.1105G= (p.Val369=) | |
4 | g.16006614C>G | CA356435359 | PROM1 | c.1378G>C (p.Val460Leu) c.*1061G>C (n.*1061G>C) c.1351G>C (p.Val451Leu) c.1436G>C c.1144G>C (p.Val382Leu) c.1171G>C (p.Val391Leu) c.1105G>C (p.Val369Leu) | |
4 | g.16006614C>T | CA2866788 | PROM1 | c.1378G>A (p.Val460Met) c.*1061G>A (n.*1061G>A) c.1351G>A (p.Val451Met) c.1436G>A c.1144G>A (p.Val382Met) c.1171G>A (p.Val391Met) c.1105G>A (p.Val369Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006615G>A | CA2866789 | PROM1 | c.1377C>T (p.Gly459=) c.*1060C>T (n.*1060C>T) c.1350C>T (p.Gly450=) c.1435C>T c.1143C>T (p.Gly381=) c.1170C>T (p.Gly390=) c.1104C>T (p.Gly368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.16006615G>C | CA438386870 | PROM1 | c.1377C>G (p.Gly459=) c.*1060C>G (n.*1060C>G) c.1350C>G (p.Gly450=) c.1435C>G c.1143C>G (p.Gly381=) c.1170C>G (p.Gly390=) c.1104C>G (p.Gly368=) | |
4 | g.16006615G= | CA1440916688 | PROM1 | c.1377C= (p.Gly459=) c.*1060C= (n.*1060C=) c.1350C= (p.Gly450=) c.1435C= c.1143C= (p.Gly381=) c.1170C= (p.Gly390=) c.1104C= (p.Gly368=) | |
4 | g.16006615G>T | CA438386871 | PROM1 | c.1377C>A (p.Gly459=) c.*1060C>A (n.*1060C>A) c.1350C>A (p.Gly450=) c.1435C>A c.1143C>A (p.Gly381=) c.1170C>A (p.Gly390=) c.1104C>A (p.Gly368=) | dbSNP |
4 | g.16006616C>A | CA356435362 | PROM1 | c.1376G>T (p.Gly459Val) c.*1059G>T (n.*1059G>T) c.1349G>T (p.Gly450Val) c.1434G>T c.1142G>T (p.Gly381Val) c.1169G>T (p.Gly390Val) c.1103G>T (p.Gly368Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.16006616C= | CA1440916689 | PROM1 | c.1376G= (p.Gly459=) c.*1059G= (n.*1059G=) c.1349G= (p.Gly450=) c.1434G= c.1142G= (p.Gly381=) c.1169G= (p.Gly390=) c.1103G= (p.Gly368=) | |
4 | g.16006616C>G | CA356435365 | PROM1 | c.1376G>C (p.Gly459Ala) c.*1059G>C (n.*1059G>C) c.1349G>C (p.Gly450Ala) c.1434G>C c.1142G>C (p.Gly381Ala) c.1169G>C (p.Gly390Ala) c.1103G>C (p.Gly368Ala) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.16006616C>T | CA356435363 | PROM1 | c.1376G>A (p.Gly459Asp) c.*1059G>A (n.*1059G>A) c.1349G>A (p.Gly450Asp) c.1434G>A c.1142G>A (p.Gly381Asp) c.1169G>A (p.Gly390Asp) c.1103G>A (p.Gly368Asp) | |
4 | g.16006617C>A | CA356435367 | PROM1 | c.1375G>T (p.Gly459Cys) c.*1058G>T (n.*1058G>T) c.1348G>T (p.Gly450Cys) c.1433G>T c.1141G>T (p.Gly381Cys) c.1168G>T (p.Gly390Cys) c.1102G>T (p.Gly368Cys) | |
4 | g.16006617C>G | CA356435369 | PROM1 | c.1375G>C (p.Gly459Arg) c.*1058G>C (n.*1058G>C) c.1348G>C (p.Gly450Arg) c.1433G>C c.1141G>C (p.Gly381Arg) c.1168G>C (p.Gly390Arg) c.1102G>C (p.Gly368Arg) | |
4 | g.16006617C>T | CA356435370 | PROM1 | c.1375G>A (p.Gly459Ser) c.*1058G>A (n.*1058G>A) c.1348G>A (p.Gly450Ser) c.1433G>A c.1141G>A (p.Gly381Ser) c.1168G>A (p.Gly390Ser) c.1102G>A (p.Gly368Ser) | |
4 | g.16006618A>C | CA356435372 | PROM1 | c.1374T>G (p.Cys458Trp) c.*1057T>G (n.*1057T>G) c.1347T>G (p.Cys449Trp) c.1432T>G c.1140T>G (p.Cys380Trp) c.1167T>G (p.Cys389Trp) c.1101T>G (p.Cys367Trp) | |
4 | g.16006618A>G | CA438386872 | PROM1 | c.1374T>C (p.Cys458=) c.*1057T>C (n.*1057T>C) c.1347T>C (p.Cys449=) c.1432T>C c.1140T>C (p.Cys380=) c.1167T>C (p.Cys389=) c.1101T>C (p.Cys367=) | |
4 | g.16006618A>T | CA356435373 | PROM1 | c.1374T>A (p.Cys458Ter) c.*1057T>A (n.*1057T>A) c.1347T>A (p.Cys449Ter) c.1432T>A c.1140T>A (p.Cys380Ter) c.1167T>A (p.Cys389Ter) c.1101T>A (p.Cys367Ter) |