Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152313059_152313060delinsCG | CA2479952264 | FLG | c.1826_1827delinsCG (p.Ser609=) | |
1 | g.152313060del | CA1107448 | FLG | c.1826del (p.Ser609TrpfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313060G>A | CA1107451 | FLG | c.1826C>T (p.Ser609Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313060G>C | CA342094798 | FLG | c.1826C>G (p.Ser609Trp) | gnomAD v4 |
1 | g.152313060G= | CA1142034012 | FLG | c.1826C= (p.Ser609=) | |
1 | g.152313060G>T | CA1107450 | FLG | c.1826C>A (p.Ser609Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152313061A= | CA1144639756 | FLG | c.1825T= (p.Ser609=) | |
1 | g.152313061A>C | CA1107452 | FLG | c.1825T>G (p.Ser609Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313061A>G | CA342094799 | FLG | c.1825T>C (p.Ser609Pro) | gnomAD v4 |
1 | g.152313061A>T | CA342094801 | FLG | c.1825T>A (p.Ser609Thr) | gnomAD v4 |
1 | g.152313062T>A | CA420932166 | FLG | c.1824A>T (p.Ser608=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152313062T>C | CA1107453 | FLG | c.1824A>G (p.Ser608=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313062T>G | CA420932168 | FLG | c.1824A>C (p.Ser608=) | |
1 | g.152313062T= | CA1143414236 | FLG | c.1824A= (p.Ser608=) | |
1 | g.152313063G>A | CA342094839 | FLG | c.1823C>T (p.Ser608Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152313063G>C | CA342094815 | FLG | c.1823C>G (p.Ser608Ter) | gnomAD v4 |
1 | g.152313063G= | CA2479952265 | FLG | c.1823C= (p.Ser608=) | |
1 | g.152313063G>T | CA342094833 | FLG | c.1823C>A (p.Ser608Ter) | ClinVar gnomAD v4 |
1 | g.152313064A= | CA1143673553 | FLG | c.1822T= (p.Ser608=) | |
1 | g.152313064A>C | CA342094847 | FLG | c.1822T>G (p.Ser608Ala) | |
1 | g.152313064A>G | CA342094850 | FLG | c.1822T>C (p.Ser608Pro) | |
1 | g.152313064A>T | CA1107454 | FLG | c.1822T>A (p.Ser608Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313065T>A | CA342094857 | FLG | c.1821A>T (p.Gln607His) | |
1 | g.152313065T>C | CA1107455 | FLG | c.1821A>G (p.Gln607=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313065T>G | CA342094864 | FLG | c.1821A>C (p.Gln607His) | |
1 | g.152313065T= | CA1141529095 | FLG | c.1821A= (p.Gln607=) | |
1 | g.152313066T>A | CA342094870 | FLG | c.1820A>T (p.Gln607Leu) | |
1 | g.152313066T>C | CA342094877 | FLG | c.1820A>G (p.Gln607Arg) | |
1 | g.152313066T>G | CA342094881 | FLG | c.1820A>C (p.Gln607Pro) | dbSNP |
1 | g.152313067G>A | CA342094887 | FLG | c.1819C>T (p.Gln607Ter) | |
1 | g.152313067G>C | CA1107456 | FLG | c.1819C>G (p.Gln607Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313067G= | CA1141338521 | FLG | c.1819C= (p.Gln607=) | |
1 | g.152313067G>T | CA1107457 | FLG | c.1819C>A (p.Gln607Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313068T>A | CA420932180 | FLG | c.1818A>T (p.Gly606=) | gnomAD v4 |
1 | g.152313068T>C | CA1107458 | FLG | c.1818A>G (p.Gly606=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313068T>G | CA420932179 | FLG | c.1818A>C (p.Gly606=) | |
1 | g.152313068T= | CA2479952266 | FLG | c.1818A= (p.Gly606=) | |
1 | g.152313069C>A | CA342094916 | FLG | c.1817G>T (p.Gly606Val) | dbSNP |
1 | g.152313069C= | CA2479952267 | FLG | c.1817G= (p.Gly606=) | |
1 | g.152313069C>G | CA342094913 | FLG | c.1817G>C (p.Gly606Ala) | |
1 | g.152313069C>T | CA1107459 | FLG | c.1817G>A (p.Gly606Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313070_152313071dup | CA2647993639 | FLG | c.1816_1817dup (p.Gln607AspfsTer?) | gnomAD v4 |
1 | g.152313070C>A | CA342094917 | FLG | c.1816G>T (p.Gly606Ter) | |
1 | g.152313070C= | CA1149105159 | FLG | c.1816G= (p.Gly606=) | |
1 | g.152313070C>G | CA342094918 | FLG | c.1816G>C (p.Gly606Arg) | |
1 | g.152313070C>T | CA1107460 | FLG | c.1816G>A (p.Gly606Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313071C>A | CA342094925 | FLG | c.1815G>T (p.Gln605His) | |
1 | g.152313071C= | CA2479952268 | FLG | c.1815G= (p.Gln605=) | |
1 | g.152313071C>G | CA1107461 | FLG | c.1815G>C (p.Gln605His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152313071C>T | CA420932185 | FLG | c.1815G>A (p.Gln605=) |