| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152310794_152310919del | CA2647993593 | FLG | c.3984_4109del (p.Gln1328_Arg1369del) | gnomAD v4 |
| 1 | g.152310880_152310882delinsACT | CA2479951114 | FLG | c.4004_4006delinsAGT (p.Glu1335=) | |
| 1 | g.152310881C>A | CA342079692 | FLG | c.4005G>T (p.Glu1335Asp) | |
| 1 | g.152310881C= | CA2479951115 | FLG | c.4005G= (p.Glu1335=) | |
| 1 | g.152310881C>G | CA342079693 | FLG | c.4005G>C (p.Glu1335Asp) | |
| 1 | g.152310881C>T | CA420930280 | FLG | c.4005G>A (p.Glu1335=) | dbSNP |
| 1 | g.152310883_152310884del | CA16042301 | FLG | c.4004_4005del (p.Glu1335ValfsTer12) | ClinVar dbSNP gnomAD v4 |
| 1 | g.152310882T>A | CA342079702 | FLG | c.4004A>T (p.Glu1335Val) | COSMIC |
| 1 | g.152310882T>C | CA342079707 | FLG | c.4004A>G (p.Glu1335Gly) | |
| 1 | g.152310882T>G | CA342079710 | FLG | c.4004A>C (p.Glu1335Ala) | gnomAD v4 |
| 1 | g.152310883C>A | CA342079715 | FLG | c.4003G>T (p.Glu1335Ter) | COSMIC |
| 1 | g.152310883C= | CA2479951116 | FLG | c.4003G= (p.Glu1335=) | |
| 1 | g.152310883C>G | CA1106408 | FLG | c.4003G>C (p.Glu1335Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310883C>T | CA1106407 | FLG | c.4003G>A (p.Glu1335Lys) | dbSNP ExAC gnomAD v2 |
| 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=) |