Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152310794_152310919del | CA2647993593 | FLG | c.3984_4109del (p.Gln1328_Arg1369del) | gnomAD v4 |
1 | g.152310792G>A | CA342078729 | FLG | c.4094C>T (p.Ala1365Val) | |
1 | g.152310792G>C | CA342078730 | FLG | c.4094C>G (p.Ala1365Gly) | |
1 | g.152310792G>T | CA342078731 | FLG | c.4094C>A (p.Ala1365Glu) | |
1 | g.152310793C>A | CA342078736 | FLG | c.4093G>T (p.Ala1365Ser) | |
1 | g.152310793C>G | CA342078740 | FLG | c.4093G>C (p.Ala1365Pro) | |
1 | g.152310793C>T | CA342078751 | FLG | c.4093G>A (p.Ala1365Thr) | COSMIC |
1 | g.152310794T>A | CA420930110 | FLG | c.4092A>T (p.Ser1364=) | |
1 | g.152310794T>C | CA420930112 | FLG | c.4092A>G (p.Ser1364=) | |
1 | g.152310794T>G | CA420930115 | FLG | c.4092A>C (p.Ser1364=) | |
1 | g.152310795G>A | CA342078756 | FLG | c.4091C>T (p.Ser1364Leu) | |
1 | g.152310795G>C | CA342078758 | FLG | c.4091C>G (p.Ser1364Ter) | dbSNP |
1 | g.152310795G= | CA2479951065 | FLG | c.4091C= (p.Ser1364=) | |
1 | g.152310795G>T | CA342078763 | FLG | c.4091C>A (p.Ser1364Ter) | |
1 | g.152310796A= | CA2479951066 | FLG | c.4090T= (p.Ser1364=) | |
1 | g.152310796A>C | CA342078766 | FLG | c.4090T>G (p.Ser1364Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152310796A>G | CA342078769 | FLG | c.4090T>C (p.Ser1364Pro) | |
1 | g.152310796A>T | CA342078773 | FLG | c.4090T>A (p.Ser1364Thr) | |
1 | g.152310797C>A | CA1106373 | FLG | c.4089G>T (p.Gln1363His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310797C= | CA2479951067 | FLG | c.4089G= (p.Gln1363=) | |
1 | g.152310797C>G | CA342078780 | FLG | c.4089G>C (p.Gln1363His) | |
1 | g.152310797C>T | CA420930120 | FLG | c.4089G>A (p.Gln1363=) | gnomAD v4 |
1 | g.152310798T>A | CA342078794 | FLG | c.4088A>T (p.Gln1363Leu) | |
1 | g.152310798T>C | CA342078800 | FLG | c.4088A>G (p.Gln1363Arg) | |
1 | g.152310798T>G | CA342078807 | FLG | c.4088A>C (p.Gln1363Pro) | |
1 | g.152310798T= | CA2479951068 | FLG | c.4088A= (p.Gln1363=) | |
1 | g.152310799G>A | CA342078810 | FLG | c.4087C>T (p.Gln1363Ter) | dbSNP |
1 | g.152310799G>C | CA342078811 | FLG | c.4087C>G (p.Gln1363Glu) | |
1 | g.152310799G= | CA2479951069 | FLG | c.4087C= (p.Gln1363=) | |
1 | g.152310799G>T | CA342078814 | FLG | c.4087C>A (p.Gln1363Lys) | dbSNP |
1 | g.152310799_152310800insGAG | CA1007765981 | FLG | c.4087_4088insTCC (p.Gln1362_Gln1363insLeu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152310800C>A | CA342078818 | FLG | c.4086G>T (p.Gln1362His) | |
1 | g.152310800C>G | CA342078822 | FLG | c.4086G>C (p.Gln1362His) | |
1 | g.152310800C>T | CA420930124 | FLG | c.4086G>A (p.Gln1362=) | gnomAD v4 |
1 | g.152310801T>A | CA342078827 | FLG | c.4085A>T (p.Gln1362Leu) | COSMIC |
1 | g.152310801T>C | CA342078829 | FLG | c.4085A>G (p.Gln1362Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152310801T>G | CA342078834 | FLG | c.4085A>C (p.Gln1362Pro) | |
1 | g.152310801T= | CA2479951070 | FLG | c.4085A= (p.Gln1362=) | |
1 | g.152310802G>A | CA342078840 | FLG | c.4084C>T (p.Gln1362Ter) | gnomAD v4 |
1 | g.152310802G>C | CA342078841 | FLG | c.4084C>G (p.Gln1362Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152310802G= | CA2479951071 | FLG | c.4084C= (p.Gln1362=) | |
1 | g.152310802G>T | CA342078842 | FLG | c.4084C>A (p.Gln1362Lys) | |
1 | g.152310803G>A | CA420930126 | FLG | c.4083C>T (p.His1361=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152310803G>C | CA342078843 | FLG | c.4083C>G (p.His1361Gln) | |
1 | g.152310803G= | CA2479951072 | FLG | c.4083C= (p.His1361=) | |
1 | g.152310803G>T | CA342078845 | FLG | c.4083C>A (p.His1361Gln) | gnomAD v4 |
1 | g.152310804T>A | CA342078848 | FLG | c.4082A>T (p.His1361Leu) | |
1 | g.152310804T>C | CA342078852 | FLG | c.4082A>G (p.His1361Arg) | |
1 | g.152310804T>G | CA342078858 | FLG | c.4082A>C (p.His1361Pro) | gnomAD v4 |
1 | g.152310805G>A | CA342078871 | FLG | c.4081C>T (p.His1361Tyr) | gnomAD v4 |