Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152310794_152310919del | CA2647993593 | FLG | c.3984_4109del (p.Gln1328_Arg1369del) | gnomAD v4 |
1 | g.152310892G>A | CA342079807 | FLG | c.3994C>T (p.His1332Tyr) | |
1 | g.152310892G>C | CA342079812 | FLG | c.3994C>G (p.His1332Asp) | |
1 | g.152310892G= | CA2479951123 | FLG | c.3994C= (p.His1332=) | |
1 | g.152310892G>T | CA342079815 | FLG | c.3994C>A (p.His1332Asn) | dbSNP |
1 | g.152310893A>C | CA420930302 | FLG | c.3993T>G (p.Thr1331=) | |
1 | g.152310893A>G | CA420930300 | FLG | c.3993T>C (p.Thr1331=) | gnomAD v4 |
1 | g.152310893A>T | CA420930301 | FLG | c.3993T>A (p.Thr1331=) | |
1 | g.152310894G>A | CA342079821 | FLG | c.3992C>T (p.Thr1331Ile) | gnomAD v4 |
1 | g.152310894G>C | CA342079824 | FLG | c.3992C>G (p.Thr1331Ser) | |
1 | g.152310894G>T | CA342079828 | FLG | c.3992C>A (p.Thr1331Asn) | |
1 | g.152310895T>A | CA342079832 | FLG | c.3991A>T (p.Thr1331Ser) | |
1 | g.152310895T>C | CA342079847 | FLG | c.3991A>G (p.Thr1331Ala) | |
1 | g.152310895T>G | CA342079851 | FLG | c.3991A>C (p.Thr1331Pro) | gnomAD v4 |
1 | g.152310896G>A | CA420930306 | FLG | c.3990C>T (p.Gly1330=) | dbSNP gnomAD v2 |
1 | g.152310896G>C | CA420930307 | FLG | c.3990C>G (p.Gly1330=) | |
1 | g.152310896G= | CA2479951124 | FLG | c.3990C= (p.Gly1330=) | |
1 | g.152310896G>T | CA420930308 | FLG | c.3990C>A (p.Gly1330=) | gnomAD v4 |
1 | g.152310897C>A | CA342079855 | FLG | c.3989G>T (p.Gly1330Val) | |
1 | g.152310897C= | CA2479951125 | FLG | c.3989G= (p.Gly1330=) | |
1 | g.152310897C>G | CA342079865 | FLG | c.3989G>C (p.Gly1330Ala) | gnomAD v3 gnomAD v4 |
1 | g.152310897C>T | CA1106412 | FLG | c.3989G>A (p.Gly1330Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152310898C>A | CA342079878 | FLG | c.3988G>T (p.Gly1330Cys) | |
1 | g.152310898C= | CA2479951126 | FLG | c.3988G= (p.Gly1330=) | |
1 | g.152310898C>G | CA342079871 | FLG | c.3988G>C (p.Gly1330Arg) | |
1 | g.152310898C>T | CA342079874 | FLG | c.3988G>A (p.Gly1330Ser) | dbSNP |
1 | g.152310899T>A | CA420930312 | FLG | c.3987A>T (p.Ser1329=) | gnomAD v4 |
1 | g.152310899T>C | CA420930310 | FLG | c.3987A>G (p.Ser1329=) | |
1 | g.152310899T>G | CA420930313 | FLG | c.3987A>C (p.Ser1329=) | |
1 | g.152310900G>A | CA342079879 | FLG | c.3986C>T (p.Ser1329Leu) | |
1 | g.152310900G>C | CA342079881 | FLG | c.3986C>G (p.Ser1329Ter) | COSMIC |
1 | g.152310900G= | CA2479951127 | FLG | c.3986C= (p.Ser1329=) | |
1 | g.152310900G>T | CA1106413 | FLG | c.3986C>A (p.Ser1329Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310901A= | CA2479951128 | FLG | c.3985T= (p.Ser1329=) | |
1 | g.152310901A>C | CA342079884 | FLG | c.3985T>G (p.Ser1329Ala) | gnomAD v4 |
1 | g.152310901A>G | CA342079894 | FLG | c.3985T>C (p.Ser1329Pro) | dbSNP gnomAD v4 |
1 | g.152310901A>T | CA342079889 | FLG | c.3985T>A (p.Ser1329Thr) | |
1 | g.152310902T>A | CA342079897 | FLG | c.3984A>T (p.Gln1328His) | gnomAD v4 |
1 | g.152310902T>C | CA420930315 | FLG | c.3984A>G (p.Gln1328=) | dbSNP gnomAD v4 |
1 | g.152310902T>G | CA342079900 | FLG | c.3984A>C (p.Gln1328His) | dbSNP |
1 | g.152310902T= | CA2479951129 | FLG | c.3984A= (p.Gln1328=) | |
1 | g.152310903T>A | CA1106414 | FLG | c.3983A>T (p.Gln1328Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310903T>C | CA342079907 | FLG | c.3983A>G (p.Gln1328Arg) | |
1 | g.152310903T>G | CA342079910 | FLG | c.3983A>C (p.Gln1328Pro) | |
1 | g.152310903T= | CA2479951130 | FLG | c.3983A= (p.Gln1328=) | |
1 | g.152310905_152310908del | CA2647993605 | FLG | c.3980_3983del (p.Arg1327AsnfsTer?) | gnomAD v4 |
1 | g.152310913_152310972dup | CA2647993604 | FLG | c.3924_3983dup (p.Arg1327_Gln1328insHisProGlyPheHisGlnGluAspArgAlaSerHisGlyHisSerAlaAspSerSerArg) | gnomAD v4 |
1 | g.152310904G>A | CA342079915 | FLG | c.3982C>T (p.Gln1328Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152310904G>C | CA342079919 | FLG | c.3982C>G (p.Gln1328Glu) | gnomAD v4 |
1 | g.152310904G= | CA2479951131 | FLG | c.3982C= (p.Gln1328=) |