Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152310794_152310919del | CA2647993593 | FLG | c.3984_4109del (p.Gln1328_Arg1369del) | gnomAD v4 |
1 | g.152310883_152310884del | CA16042301 | FLG | c.4004_4005del (p.Glu1335ValfsTer12) | ClinVar dbSNP gnomAD v4 |
1 | g.152310883_152310885delinsCTG | CA2479951117 | FLG | c.4001_4003delinsCAG (p.Thr1334=) | |
1 | g.152310884T>A | CA420930289 | FLG | c.4002A>T (p.Thr1334=) | |
1 | g.152310884T>C | CA420930285 | FLG | c.4002A>G (p.Thr1334=) | |
1 | g.152310884T>G | CA420930287 | FLG | c.4002A>C (p.Thr1334=) | |
1 | g.152310888_152310889del | CA1106406 | FLG | c.4001_4002del (p.Thr1334ArgfsTer13) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310885G>A | CA342079732 | FLG | c.4001C>T (p.Thr1334Ile) | |
1 | g.152310885G>C | CA342079734 | FLG | c.4001C>G (p.Thr1334Arg) | |
1 | g.152310885G>T | CA342079728 | FLG | c.4001C>A (p.Thr1334Lys) | |
1 | g.152310886T>A | CA342079739 | FLG | c.4000A>T (p.Thr1334Ser) | |
1 | g.152310886T>C | CA342079744 | FLG | c.4000A>G (p.Thr1334Ala) | dbSNP |
1 | g.152310886T>G | CA342079747 | FLG | c.4000A>C (p.Thr1334Pro) | |
1 | g.152310886T= | CA2479951118 | FLG | c.4000A= (p.Thr1334=) | |
1 | g.152310887G>A | CA420930294 | FLG | c.3999C>T (p.His1333=) | dbSNP gnomAD v4 |
1 | g.152310887G>C | CA342079753 | FLG | c.3999C>G (p.His1333Gln) | |
1 | g.152310887G= | CA2479951119 | FLG | c.3999C= (p.His1333=) | |
1 | g.152310887G>T | CA1106409 | FLG | c.3999C>A (p.His1333Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310888T>A | CA1106410 | FLG | c.3998A>T (p.His1333Leu) | dbSNP ExAC gnomAD v2 |
1 | g.152310888T>C | CA342079764 | FLG | c.3998A>G (p.His1333Arg) | gnomAD v4 |
1 | g.152310888T>G | CA342079765 | FLG | c.3998A>C (p.His1333Pro) | |
1 | g.152310888T= | CA2479951120 | FLG | c.3998A= (p.His1333=) | |
1 | g.152310889G>A | CA342079773 | FLG | c.3997C>T (p.His1333Tyr) | |
1 | g.152310889G>C | CA342079778 | FLG | c.3997C>G (p.His1333Asp) | |
1 | g.152310889G>T | CA342079780 | FLG | c.3997C>A (p.His1333Asn) | gnomAD v4 COSMIC |
1 | g.152310890A= | CA2479951121 | FLG | c.3996T= (p.His1332=) | |
1 | g.152310890A>C | CA342079784 | FLG | c.3996T>G (p.His1332Gln) | |
1 | g.152310890A>G | CA420930298 | FLG | c.3996T>C (p.His1332=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152310890A>T | CA342079788 | FLG | c.3996T>A (p.His1332Gln) | gnomAD v4 |
1 | g.152310891T>A | CA342079803 | FLG | c.3995A>T (p.His1332Leu) | |
1 | g.152310891T>C | CA1106411 | FLG | c.3995A>G (p.His1332Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152310891T>G | CA342079792 | FLG | c.3995A>C (p.His1332Pro) | |
1 | g.152310891T= | CA2479951122 | FLG | c.3995A= (p.His1332=) | |
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 |