Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152312568T>A | CA342090554 | FLG | c.2318A>T (p.Gln773Leu) | |
1 | g.152312568T>C | CA342090556 | FLG | c.2318A>G (p.Gln773Arg) | dbSNP gnomAD v4 COSMIC |
1 | g.152312568T>G | CA342090558 | FLG | c.2318A>C (p.Gln773Pro) | |
1 | g.152312568T= | CA2479951987 | FLG | c.2318A= (p.Gln773=) | |
1 | g.152312569G>A | CA342090563 | FLG | c.2317C>T (p.Gln773Ter) | |
1 | g.152312569G>C | CA342090566 | FLG | c.2317C>G (p.Gln773Glu) | |
1 | g.152312569G= | CA2479951988 | FLG | c.2317C= (p.Gln773=) | |
1 | g.152312569G>T | CA1107236 | FLG | c.2317C>A (p.Gln773Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312570C>A | CA1107237 | FLG | c.2316G>T (p.Gln772His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312570C= | CA2479951989 | FLG | c.2316G= (p.Gln772=) | |
1 | g.152312570C>G | CA342090573 | FLG | c.2316G>C (p.Gln772His) | |
1 | g.152312570C>T | CA420930828 | FLG | c.2316G>A (p.Gln772=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312571T>A | CA342090574 | FLG | c.2315A>T (p.Gln772Leu) | |
1 | g.152312571T>C | CA342090575 | FLG | c.2315A>G (p.Gln772Arg) | |
1 | g.152312571T>G | CA342090577 | FLG | c.2315A>C (p.Gln772Pro) | |
1 | g.152312572G>A | CA342090584 | FLG | c.2314C>T (p.Gln772Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312572G>C | CA342090587 | FLG | c.2314C>G (p.Gln772Glu) | |
1 | g.152312572G= | CA2479951990 | FLG | c.2314C= (p.Gln772=) | |
1 | g.152312572G>T | CA342090579 | FLG | c.2314C>A (p.Gln772Lys) | |
1 | g.152312573A>C | CA342090591 | FLG | c.2313T>G (p.His771Gln) | |
1 | g.152312573A>G | CA420930829 | FLG | c.2313T>C (p.His771=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312573A>T | CA342090593 | FLG | c.2313T>A (p.His771Gln) | |
1 | g.152312574T>A | CA342090601 | FLG | c.2312A>T (p.His771Leu) | |
1 | g.152312574T>C | CA342090603 | FLG | c.2312A>G (p.His771Arg) | |
1 | g.152312574T>G | CA342090604 | FLG | c.2312A>C (p.His771Pro) | dbSNP |
1 | g.152312574T= | CA2479951991 | FLG | c.2312A= (p.His771=) | |
1 | g.152312575G>A | CA1107238 | FLG | c.2311C>T (p.His771Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312575G>C | CA342090607 | FLG | c.2311C>G (p.His771Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312575G= | CA2479951992 | FLG | c.2311C= (p.His771=) | |
1 | g.152312575G>T | CA342090609 | FLG | c.2311C>A (p.His771Asn) | COSMIC |
1 | g.152312576G>A | CA420930833 | FLG | c.2310C>T (p.His770=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312576G>C | CA342090611 | FLG | c.2310C>G (p.His770Gln) | gnomAD v4 |
1 | g.152312576G= | CA2479951993 | FLG | c.2310C= (p.His770=) | |
1 | g.152312576G>T | CA342090612 | FLG | c.2310C>A (p.His770Gln) | |
1 | g.152312577T>A | CA342090614 | FLG | c.2309A>T (p.His770Leu) | |
1 | g.152312577T>C | CA342090615 | FLG | c.2309A>G (p.His770Arg) | |
1 | g.152312577T>G | CA1107239 | FLG | c.2309A>C (p.His770Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312577T= | CA1143597489 | FLG | c.2309A= (p.His770=) | |
1 | g.152312578G>A | CA342090621 | FLG | c.2308C>T (p.His770Tyr) | |
1 | g.152312578G>C | CA342090619 | FLG | c.2308C>G (p.His770Asp) | |
1 | g.152312578G>T | CA342090620 | FLG | c.2308C>A (p.His770Asn) | |
1 | g.152312579A= | CA2479951995 | FLG | c.2307T= (p.Gly769=) | |
1 | g.152312579A>C | CA1107240 | FLG | c.2307T>G (p.Gly769=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312579A>G | CA1107241 | FLG | c.2307T>C (p.Gly769=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312579A>T | CA420930920 | FLG | c.2307T>A (p.Gly769=) | gnomAD v4 |
1 | g.152312579_152312580delinsAC | CA2479951994 | FLG | c.2306_2307delinsGT (p.Gly769=) | |
1 | g.152312580C>A | CA342090625 | FLG | c.2306G>T (p.Gly769Val) | gnomAD v4 COSMIC |
1 | g.152312580C= | CA2479951996 | FLG | c.2306G= (p.Gly769=) | |
1 | g.152312580C>G | CA342090626 | FLG | c.2306G>C (p.Gly769Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312580C>T | CA342090628 | FLG | c.2306G>A (p.Gly769Asp) | COSMIC |