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=)
| |
1 | g.152313072T>A | CA342094933 | FLG | c.1814A>T (p.Gln605Leu)
| |
1 | g.152313072T>C | CA342094935 | FLG | c.1814A>G (p.Gln605Arg)
| |
1 | g.152313072T>G | CA342094937 | FLG | c.1814A>C (p.Gln605Pro)
| dbSNP gnomAD v4 |
1 | g.152313072T= | CA2479952269 | FLG | c.1814A= (p.Gln605=)
| |
1 | g.152313073G>A | CA342094939 | FLG | c.1813C>T (p.Gln605Ter)
| gnomAD v4 |
1 | g.152313073G>C | CA342094944 | FLG | c.1813C>G (p.Gln605Glu)
| dbSNP gnomAD v4 |
1 | g.152313073G= | CA1143920886 | FLG | c.1813C= (p.Gln605=)
| |
1 | g.152313073G>T | CA1107462 | FLG | c.1813C>A (p.Gln605Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152313074G>A | CA420932193 | FLG | c.1812C>T (p.Gly604=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313074G>C | CA420932191 | FLG | c.1812C>G (p.Gly604=)
| |
1 | g.152313074G= | CA2479952270 | FLG | c.1812C= (p.Gly604=)
| |
1 | g.152313074G>T | CA420932192 | FLG | c.1812C>A (p.Gly604=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313075C>A | CA342094954 | FLG | c.1811G>T (p.Gly604Val)
| dbSNP gnomAD v4 |
1 | g.152313075C= | CA1143481480 | FLG | c.1811G= (p.Gly604=)
| |
1 | g.152313075C>G | CA342094950 | FLG | c.1811G>C (p.Gly604Ala)
| dbSNP |
1 | g.152313075C>T | CA1107463 | FLG | c.1811G>A (p.Gly604Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313076C>A | CA342094960 | FLG | c.1810G>T (p.Gly604Cys)
| |
1 | g.152313076C= | CA2479952271 | FLG | c.1810G= (p.Gly604=)
| |
1 | g.152313076C>G | CA342094961 | FLG | c.1810G>C (p.Gly604Arg)
| gnomAD v4 |
1 | g.152313076C>T | CA342094966 | FLG | c.1810G>A (p.Gly604Ser)
| dbSNP |
1 | g.152313077C>A | CA420932199 | FLG | c.1809G>T (p.Val603=)
| |
1 | g.152313077C= | CA2479952272 | FLG | c.1809G= (p.Val603=)
| |
1 | g.152313077C>G | CA1107464 | FLG | c.1809G>C (p.Val603=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313077C>T | CA420932202 | FLG | c.1809G>A (p.Val603=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152313078A= | CA2479952273 | FLG | c.1808T= (p.Val603=)
| |
1 | g.152313078A>C | CA1107465 | FLG | c.1808T>G (p.Val603Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313078A>G | CA1107466 | FLG | c.1808T>C (p.Val603Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313078A>T | CA342094982 | FLG | c.1808T>A (p.Val603Glu)
| |
1 | g.152313079C>A | CA1107468 | FLG | c.1807G>T (p.Val603Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313079C= | CA1141590073 | FLG | c.1807G= (p.Val603=)
| |
1 | g.152313079C>G | CA342094989 | FLG | c.1807G>C (p.Val603Leu)
| |
1 | g.152313079C>T | CA1107467 | FLG | c.1807G>A (p.Val603Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313080C>A | CA342094993 | FLG | c.1806G>T (p.Gln602His)
| ClinVar dbSNP |
1 | g.152313080C>G | CA342094998 | FLG | c.1806G>C (p.Gln602His)
| |
1 | g.152313080C>T | CA420932206 | FLG | c.1806G>A (p.Gln602=)
| |
1 | g.152313081T>A | CA1107469 | FLG | c.1805A>T (p.Gln602Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152313081T>C | CA342095002 | FLG | c.1805A>G (p.Gln602Arg)
| |
1 | g.152313081T>G | CA342095000 | FLG | c.1805A>C (p.Gln602Pro)
| |
1 | g.152313081T= | CA2479952274 | FLG | c.1805A= (p.Gln602=)
| |
1 | g.152313084_152313089del | CA2647993641 | FLG | c.1800_1805del (p.His600_Ser601del)
| gnomAD v4 |
1 | g.152313082G>A | CA342095007 | FLG | c.1804C>T (p.Gln602Ter)
| dbSNP COSMIC |
1 | g.152313082G>C | CA1107470 | FLG | c.1804C>G (p.Gln602Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152313082G= | CA2479952275 | FLG | c.1804C= (p.Gln602=)
| |
1 | g.152313082G>T | CA342095010 | FLG | c.1804C>A (p.Gln602Lys)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152313083T>A | CA420932213 | FLG | c.1803A>T (p.Ser601=)
| COSMIC |
1 | g.152313083T>C | CA420932214 | FLG | c.1803A>G (p.Ser601=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152313083T>G | CA420932212 | FLG | c.1803A>C (p.Ser601=)
| |
1 | g.152313083T= | CA2479952276 | FLG | c.1803A= (p.Ser601=)
| |
1 | g.152313084G>A | CA342095013 | FLG | c.1802C>T (p.Ser601Leu)
| dbSNP |
1 | g.152313084G>C | CA342095016 | FLG | c.1802C>G (p.Ser601Ter)
| |
1 | g.152313084G= | CA2479952277 | FLG | c.1802C= (p.Ser601=)
| |
1 | g.152313084G>T | CA342095020 | FLG | c.1802C>A (p.Ser601Ter)
| dbSNP |
1 | g.152313085A= | CA2479952278 | FLG | c.1801T= (p.Ser601=)
| |
1 | g.152313085A>C | CA342095022 | FLG | c.1801T>G (p.Ser601Ala)
| dbSNP |
1 | g.152313085A>G | CA342095023 | FLG | c.1801T>C (p.Ser601Pro)
| dbSNP gnomAD v4 |
1 | g.152313085A>T | CA342095024 | FLG | c.1801T>A (p.Ser601Thr)
| |
1 | g.152313086G>A | CA420932219 | FLG | c.1800C>T (p.His600=)
| dbSNP gnomAD v4 |
1 | g.152313086G>C | CA342095027 | FLG | c.1800C>G (p.His600Gln)
| |
1 | g.152313086G>T | CA342095035 | FLG | c.1800C>A (p.His600Gln)
| |
1 | g.152313087T>A | CA30564748 | FLG | c.1799A>T (p.His600Leu)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152313087T>C | CA342095040 | FLG | c.1799A>G (p.His600Arg)
| |
1 | g.152313087T>G | CA342095042 | FLG | c.1799A>C (p.His600Pro)
| |
1 | g.152313087T= | CA2479952279 | FLG | c.1799A= (p.His600=)
| |
1 | g.152313088G>A | CA342095048 | FLG | c.1798C>T (p.His600Tyr)
| |
1 | g.152313088G>C | CA342095058 | FLG | c.1798C>G (p.His600Asp)
| |
1 | g.152313088G= | CA2479952280 | FLG | c.1798C= (p.His600=)
| |
1 | g.152313088G>T | CA30564756 | FLG | c.1798C>A (p.His600Asn)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152313089T>A | CA342095075 | FLG | c.1797A>T (p.Arg599Ser)
| |
1 | g.152313089T>C | CA420931153 | FLG | c.1797A>G (p.Arg599=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152313089T>G | CA342095071 | FLG | c.1797A>C (p.Arg599Ser)
| |
1 | g.152313089T= | CA2479952281 | FLG | c.1797A= (p.Arg599=)
| |
1 | g.152313090C>A | CA342095080 | FLG | c.1796G>T (p.Arg599Ile)
| gnomAD v4 |
1 | g.152313090C= | CA2479952282 | FLG | c.1796G= (p.Arg599=)
| |
1 | g.152313090C>G | CA342095089 | FLG | c.1796G>C (p.Arg599Thr)
| gnomAD v4 |
1 | g.152313090C>T | CA30564772 | FLG | c.1796G>A (p.Arg599Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313091T>A | CA342095102 | FLG | c.1795A>T (p.Arg599Ter)
| |
1 | g.152313091T>C | CA342095112 | FLG | c.1795A>G (p.Arg599Gly)
| gnomAD v3 gnomAD v4 |
1 | g.152313091T>G | CA420931159 | FLG | c.1795A>C (p.Arg599=)
| |
1 | g.152313092A= | CA2479952283 | FLG | c.1794T= (p.Ser598=)
| |
1 | g.152313092A>C | CA420931162 | FLG | c.1794T>G (p.Ser598=)
| gnomAD v4 |
1 | g.152313092A>G | CA30564780 | FLG | c.1794T>C (p.Ser598=)
| dbSNP gnomAD v4 |
1 | g.152313092A>T | CA420931163 | FLG | c.1794T>A (p.Ser598=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152313093G>A | CA342095131 | FLG | c.1793C>T (p.Ser598Phe)
| |
1 | g.152313093G>C | CA342095126 | FLG | c.1793C>G (p.Ser598Cys)
| gnomAD v4 |
1 | g.152313093G>T | CA342095122 | FLG | c.1793C>A (p.Ser598Tyr)
| |
1 | g.152313094A= | CA2479952284 | FLG | c.1792T= (p.Ser598=)
| |
1 | g.152313094A>C | CA342095140 | FLG | c.1792T>G (p.Ser598Ala)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152313094A>G | CA342095144 | FLG | c.1792T>C (p.Ser598Pro)
| |
1 | g.152313094A>T | CA342095148 | FLG | c.1792T>A (p.Ser598Thr)
| dbSNP |
1 | g.152313095G>A | CA1107471 | FLG | c.1791C>T (p.Ser597=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152313095G>C | CA1107472 | FLG | c.1791C>G (p.Ser597Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313095G= | CA1141272431 | FLG | c.1791C= (p.Ser597=)
| |
1 | g.152313095G>T | CA342095161 | FLG | c.1791C>A (p.Ser597Arg)
| |
1 | g.152313095_152313096insTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCC | CA2647993643 | FLG | c.1790_1791insGGCCCAGCACTGGAGTAAGACAAGGATCCCACCATGAGCAGGCACGAGACAA (p.Ser597ArgfsTer13)
| gnomAD v4 |
1 | g.152313096C>A | CA1107473 | FLG | c.1790G>T (p.Ser597Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313096C= | CA2479952285 | FLG | c.1790G= (p.Ser597=)
| |
1 | g.152313096C>G | CA1107474 | FLG | c.1790G>C (p.Ser597Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313096C>T | CA342095165 | FLG | c.1790G>A (p.Ser597Asn)
| dbSNP gnomAD v4 |
1 | g.152313099_152313106del | CA2647993642 | FLG | c.1783_1790del (p.Ala595LeufsTer2)
| gnomAD v4 |
1 | g.152313097T>A | CA342095168 | FLG | c.1789A>T (p.Ser597Cys)
| |
1 | g.152313097T>C | CA342095173 | FLG | c.1789A>G (p.Ser597Gly)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152313097T>G | CA342095178 | FLG | c.1789A>C (p.Ser597Arg)
| |
1 | g.152313097T= | CA2479952286 | FLG | c.1789A= (p.Ser597=)
| |
1 | g.152313098G>A | CA420931173 | FLG | c.1788C>T (p.Asp596=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152313098G>C | CA342095181 | FLG | c.1788C>G (p.Asp596Glu)
| gnomAD v4 |
1 | g.152313098G= | CA2479952287 | FLG | c.1788C= (p.Asp596=)
| |
1 | g.152313098G>T | CA342095186 | FLG | c.1788C>A (p.Asp596Glu)
| gnomAD v4 |
1 | g.152313099T>A | CA342095206 | FLG | c.1787A>T (p.Asp596Val)
| |
1 | g.152313099T>C | CA342095202 | FLG | c.1787A>G (p.Asp596Gly)
| |
1 | g.152313099T>G | CA342095192 | FLG | c.1787A>C (p.Asp596Ala)
| |
1 | g.152313100C>A | CA342095213 | FLG | c.1786G>T (p.Asp596Tyr)
| |
1 | g.152313100C= | CA2479952288 | FLG | c.1786G= (p.Asp596=)
| |
1 | g.152313100C>G | CA1107475 | FLG | c.1786G>C (p.Asp596His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313100C>T | CA342095216 | FLG | c.1786G>A (p.Asp596Asn)
| dbSNP |
1 | g.152313101A= | CA2479952289 | FLG | c.1785T= (p.Ala595=)
| |
1 | g.152313101A>C | CA420931185 | FLG | c.1785T>G (p.Ala595=)
| dbSNP gnomAD v4 |
1 | g.152313101A>G | CA420931186 | FLG | c.1785T>C (p.Ala595=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313101A>T | CA420931187 | FLG | c.1785T>A (p.Ala595=)
| |
1 | g.152313102G>A | CA342095217 | FLG | c.1784C>T (p.Ala595Val)
| dbSNP gnomAD v4 COSMIC |
1 | g.152313102G>C | CA342095225 | FLG | c.1784C>G (p.Ala595Gly)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152313102G= | CA2479952290 | FLG | c.1784C= (p.Ala595=)
| |
1 | g.152313102G>T | CA342095229 | FLG | c.1784C>A (p.Ala595Asp)
| |
1 | g.152313103C>A | CA342095232 | FLG | c.1783G>T (p.Ala595Ser)
| |
1 | g.152313103C>G | CA342095237 | FLG | c.1783G>C (p.Ala595Pro)
| |
1 | g.152313103C>T | CA342095235 | FLG | c.1783G>A (p.Ala595Thr)
| |
1 | g.152313104C>A | CA342095238 | FLG | c.1782G>T (p.Gln594His)
| gnomAD v4 |
1 | g.152313104C>G | CA342095241 | FLG | c.1782G>C (p.Gln594His)
| gnomAD v4 |
1 | g.152313104C>T | CA420931194 | FLG | c.1782G>A (p.Gln594=)
| dbSNP gnomAD v4 |
1 | g.152313105T>A | CA342095247 | FLG | c.1781A>T (p.Gln594Leu)
| |
1 | g.152313105T>C | CA1107476 | FLG | c.1781A>G (p.Gln594Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152313105T>G | CA342095249 | FLG | c.1781A>C (p.Gln594Pro)
| |
1 | g.152313105T= | CA2479952291 | FLG | c.1781A= (p.Gln594=)
| |
1 | g.152313106G>A | CA1107477 | FLG | c.1780C>T (p.Gln594Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152313106G>C | CA342095257 | FLG | c.1780C>G (p.Gln594Glu)
| dbSNP gnomAD v2 COSMIC |
1 | g.152313106G= | CA2479952292 | FLG | c.1780C= (p.Gln594=)
| |
1 | g.152313106G>T | CA342095260 | FLG | c.1780C>A (p.Gln594Lys)
| gnomAD v4 |
1 | g.152313107A>C | CA420931198 | FLG | c.1779T>G (p.Ser593=)
| |
1 | g.152313107A>G | CA420931199 | FLG | c.1779T>C (p.Ser593=)
| gnomAD v4 |
1 | g.152313107A>T | CA420931200 | FLG | c.1779T>A (p.Ser593=)
| |
1 | g.152313108G>A | CA1107478 | FLG | c.1778C>T (p.Ser593Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313108G>C | CA342095276 | FLG | c.1778C>G (p.Ser593Cys)
| |
1 | g.152313108G= | CA2479952293 | FLG | c.1778C= (p.Ser593=)
| |
1 | g.152313108G>T | CA342095286 | FLG | c.1778C>A (p.Ser593Tyr)
| gnomAD v4 |
1 | g.152313109A= | CA1144963731 | FLG | c.1777T= (p.Ser593=)
| |
1 | g.152313109A>C | CA1107479 | FLG | c.1777T>G (p.Ser593Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313109A>G | CA1107480 | FLG | c.1777T>C (p.Ser593Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152313109A>T | CA342095300 | FLG | c.1777T>A (p.Ser593Thr)
| dbSNP gnomAD v4 |
1 | g.152313110G>A | CA420931205 | FLG | c.1776C>T (p.Ser592=)
| gnomAD v4 |
1 | g.152313110G>C | CA420931207 | FLG | c.1776C>G (p.Ser592=)
| |
1 | g.152313110G>T | CA420931210 | FLG | c.1776C>A (p.Ser592=)
| dbSNP gnomAD v4 COSMIC |
1 | g.152313111G>A | CA342095316 | FLG | c.1775C>T (p.Ser592Phe)
| |
1 | g.152313111G>C | CA342095349 | FLG | c.1775C>G (p.Ser592Cys)
| gnomAD v4 |
1 | g.152313111G>T | CA342095321 | FLG | c.1775C>A (p.Ser592Tyr)
| |
1 | g.152313112A= | CA2479952294 | FLG | c.1774T= (p.Ser592=)
| |
1 | g.152313112A>C | CA342095355 | FLG | c.1774T>G (p.Ser592Ala)
| ClinVar dbSNP gnomAD v4 |
1 | g.152313112A>G | CA342095356 | FLG | c.1774T>C (p.Ser592Pro)
| |
1 | g.152313112A>T | CA342095357 | FLG | c.1774T>A (p.Ser592Thr)
| |
1 | g.152313113A= | CA2479952295 | FLG | c.1773T= (p.Ala591=)
| |
1 | g.152313113A>C | CA420931215 | FLG | c.1773T>G (p.Ala591=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313113A>G | CA420931218 | FLG | c.1773T>C (p.Ala591=)
| |
1 | g.152313113A>T | CA420931219 | FLG | c.1773T>A (p.Ala591=)
| dbSNP gnomAD v4 |
1 | g.152313114G>A | CA1107481 | FLG | c.1772C>T (p.Ala591Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313114G>C | CA342095362 | FLG | c.1772C>G (p.Ala591Gly)
| |
1 | g.152313114G= | CA2479952296 | FLG | c.1772C= (p.Ala591=)
| |
1 | g.152313114G>T | CA342095368 | FLG | c.1772C>A (p.Ala591Asp)
| |
1 | g.152313115C>A | CA1107482 | FLG | c.1771G>T (p.Ala591Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152313115C= | CA2479952297 | FLG | c.1771G= (p.Ala591=)
| |
1 | g.152313115C>G | CA342095374 | FLG | c.1771G>C (p.Ala591Pro)
| gnomAD v4 |
1 | g.152313115C>T | CA342095377 | FLG | c.1771G>A (p.Ala591Thr)
| COSMIC |
1 | g.152313116T>A | CA342095383 | FLG | c.1770A>T (p.Glu590Asp)
| |
1 | g.152313116T>C | CA420931227 | FLG | c.1770A>G (p.Glu590=)
| |
1 | g.152313116T>G | CA342095385 | FLG | c.1770A>C (p.Glu590Asp)
| |
1 | g.152313117T>A | CA342095398 | FLG | c.1769A>T (p.Glu590Val)
| |
1 | g.152313117T>C | CA1107483 | FLG | c.1769A>G (p.Glu590Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152313117T>G | CA342095393 | FLG | c.1769A>C (p.Glu590Ala)
| |
1 | g.152313117T= | CA1148406511 | FLG | c.1769A= (p.Glu590=)
| |
1 | g.152313118C>A | CA342095399 | FLG | c.1768G>T (p.Glu590Ter)
| |
1 | g.152313118C>G | CA342095400 | FLG | c.1768G>C (p.Glu590Gln)
| |
1 | g.152313118C>T | CA342095401 | FLG | c.1768G>A (p.Glu590Lys)
| dbSNP gnomAD v4 |
1 | g.152313119A= | CA2479952298 | FLG | c.1767T= (p.His589=)
| |
1 | g.152313119A>C | CA342095404 | FLG | c.1767T>G (p.His589Gln)
| dbSNP |
1 | g.152313119A>G | CA420931234 | FLG | c.1767T>C (p.His589=)
| dbSNP |
1 | g.152313119A>T | CA342095405 | FLG | c.1767T>A (p.His589Gln)
| |
1 | g.152313120T>A | CA342095409 | FLG | c.1766A>T (p.His589Leu)
| |
1 | g.152313120T>C | CA342095413 | FLG | c.1766A>G (p.His589Arg)
| |
1 | g.152313120T>G | CA342095416 | FLG | c.1766A>C (p.His589Pro)
| |
1 | g.152313121G>A | CA342095422 | FLG | c.1765C>T (p.His589Tyr)
| |
1 | g.152313121G>C | CA342095434 | FLG | c.1765C>G (p.His589Asp)
| dbSNP |
1 | g.152313121G= | CA2479952299 | FLG | c.1765C= (p.His589=)
| |
1 | g.152313121G>T | CA342095437 | FLG | c.1765C>A (p.His589Asn)
| dbSNP |
1 | g.152313122A= | CA2479952300 | FLG | c.1764T= (p.His588=)
| |
1 | g.152313122A>C | CA342095444 | FLG | c.1764T>G (p.His588Gln)
| |
1 | g.152313122A>G | CA1107484 | FLG | c.1764T>C (p.His588=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152313122A>T | CA342095441 | FLG | c.1764T>A (p.His588Gln)
| |
1 | g.152313123T>A | CA342095455 | FLG | c.1763A>T (p.His588Leu)
| |
1 | g.152313123T>C | CA342095447 | FLG | c.1763A>G (p.His588Arg)
| gnomAD v4 |
1 | g.152313123T>G | CA342095452 | FLG | c.1763A>C (p.His588Pro)
| gnomAD v4 |
1 | g.152313124G>A | CA342095458 | FLG | c.1762C>T (p.His588Tyr)
| |
1 | g.152313124G>C | CA342095461 | FLG | c.1762C>G (p.His588Asp)
| |
1 | g.152313124G>T | CA342095465 | FLG | c.1762C>A (p.His588Asn)
| |
1 | g.152313125A= | CA2479952301 | FLG | c.1761T= (p.Arg587=)
| |
1 | g.152313125A>C | CA420931252 | FLG | c.1761T>G (p.Arg587=)
| |
1 | g.152313125A>G | CA420931253 | FLG | c.1761T>C (p.Arg587=)
| |
1 | g.152313125A>T | CA420931254 | FLG | c.1761T>A (p.Arg587=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152313126C>A | CA342095468 | FLG | c.1760G>T (p.Arg587Leu)
| gnomAD v4 |
1 | g.152313126C= | CA2479952302 | FLG | c.1760G= (p.Arg587=)
| |
1 | g.152313126C>G | CA342095466 | FLG | c.1760G>C (p.Arg587Pro)
| gnomAD v4 |
1 | g.152313126C>T | CA1107485 | FLG | c.1760G>A (p.Arg587His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152313127G>A | CA1107486 | FLG | c.1759C>T (p.Arg587Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152313127G>C | CA342095476 | FLG | c.1759C>G (p.Arg587Gly)
| |
1 | g.152313127G= | CA1146490564 | FLG | c.1759C= (p.Arg587=)
| |
1 | g.152313127G>T | CA342095477 | FLG | c.1759C>A (p.Arg587Ser)
| dbSNP |
1 | g.152313128del | CA2573905689 | FLG | c.1758del (p.Arg587ValfsTer?)
| |
1 | g.152313128T>A | CA420931258 | FLG | c.1758A>T (p.Ser586=)
| |
1 | g.152313128T>C | CA420931262 | FLG | c.1758A>G (p.Ser586=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152313128T>G | CA420931263 | FLG | c.1758A>C (p.Ser586=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152313128T= | CA2479952303 | FLG | c.1758A= (p.Ser586=)
| |
1 | g.152313129G>A | CA342095480 | FLG | c.1757C>T (p.Ser586Leu)
| |
1 | g.152313129G>C | CA342095482 | FLG | c.1757C>G (p.Ser586Ter)
| |
1 | g.152313129G>T | CA342095485 | FLG | c.1757C>A (p.Ser586Ter)
| |
1 | g.152313130A= | CA2479952304 | FLG | c.1756T= (p.Ser586=)
| |
1 | g.152313130A>C | CA342095490 | FLG | c.1756T>G (p.Ser586Ala)
| |
1 | g.152313130A>G | CA342095501 | FLG | c.1756T>C (p.Ser586Pro)
| |
1 | g.152313130A>T | CA1107487 | FLG | c.1756T>A (p.Ser586Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313130_152313131delinsAC | CA2479952305 | FLG | c.1755_1756delinsGT (p.Gly585=)
| |
1 | g.152313131C>A | CA1107490 | FLG | c.1755G>T (p.Gly585=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313131C= | CA2479952307 | FLG | c.1755G= (p.Gly585=)
| |
1 | g.152313131C>G | CA420931275 | FLG | c.1755G>C (p.Gly585=)
| |
1 | g.152313131C>T | CA1107488 | FLG | c.1755G>A (p.Gly585=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152313133del | CA30564880 | FLG | c.1755del (p.Ser586HisfsTer?)
| dbSNP gnomAD v4 |
1 | g.152313131_152313139delinsCCCTGAGTG | CA2479952306 | FLG | c.1747_1755delinsCACTCAGGG (p.His583=)
| |
1 | g.152313131_152313132insA | CA916311255 | FLG | c.1754_1755insT (p.Ser586ValfsTer5)
| dbSNP gnomAD v4 |
1 | g.152313132C>A | CA342095513 | FLG | c.1754G>T (p.Gly585Val)
| gnomAD v4 |
1 | g.152313132C= | CA1143852806 | FLG | c.1754G= (p.Gly585=)
| |
1 | g.152313132C>G | CA342095514 | FLG | c.1754G>C (p.Gly585Ala)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152313132C>T | CA1107491 | FLG | c.1754G>A (p.Gly585Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152313136_152313143del | CA1107489 | FLG | c.1747_1754del (p.His583ValfsTer5)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152313133C>A | CA342095518 | FLG | c.1753G>T (p.Gly585Trp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313133C= | CA2479952308 | FLG | c.1753G= (p.Gly585=)
| |
1 | g.152313133C>G | CA342095522 | FLG | c.1753G>C (p.Gly585Arg)
| dbSNP |
1 | g.152313133C>T | CA342095545 | FLG | c.1753G>A (p.Gly585Arg)
| gnomAD v4 COSMIC |
1 | g.152313134T>A | CA420931280 | FLG | c.1752A>T (p.Ser584=)
| gnomAD v4 |
1 | g.152313134T>C | CA420931282 | FLG | c.1752A>G (p.Ser584=)
| |
1 | g.152313134T>G | CA420931284 | FLG | c.1752A>C (p.Ser584=)
| |
1 | g.152313135G>A | CA342095549 | FLG | c.1751C>T (p.Ser584Leu)
| |
1 | g.152313135G>C | CA342095553 | FLG | c.1751C>G (p.Ser584Ter)
| COSMIC |
1 | g.152313135G>T | CA342095554 | FLG | c.1751C>A (p.Ser584Ter)
| gnomAD v4 |
1 | g.152313136A>C | CA342095558 | FLG | c.1750T>G (p.Ser584Ala)
| |
1 | g.152313136A>G | CA342095560 | FLG | c.1750T>C (p.Ser584Pro)
| gnomAD v4 |
1 | g.152313136A>T | CA342095556 | FLG | c.1750T>A (p.Ser584Thr)
| gnomAD v4 |
1 | g.152313137G>A | CA420931289 | FLG | c.1749C>T (p.His583=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313137G>C | CA342095564 | FLG | c.1749C>G (p.His583Gln)
| |
1 | g.152313137G= | CA2479952309 | FLG | c.1749C= (p.His583=)
| |
1 | g.152313137G>T | CA342095566 | FLG | c.1749C>A (p.His583Gln)
| |
1 | g.152313138T>A | CA342095570 | FLG | c.1748A>T (p.His583Leu)
| |
1 | g.152313138T>C | CA30564896 | FLG | c.1748A>G (p.His583Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313138T>G | CA342095587 | FLG | c.1748A>C (p.His583Pro)
| |
1 | g.152313138T= | CA1141691521 | FLG | c.1748A= (p.His583=)
| |
1 | g.152313139G>A | CA342095589 | FLG | c.1747C>T (p.His583Tyr)
| dbSNP gnomAD v4 |
1 | g.152313139G>C | CA342095593 | FLG | c.1747C>G (p.His583Asp)
| |
1 | g.152313139G= | CA2479952310 | FLG | c.1747C= (p.His583=)
| |
1 | g.152313139G>T | CA1107492 | FLG | c.1747C>A (p.His583Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313139_152313140delinsGC | CA2479952311 | FLG | c.1746_1747delinsGC (p.Arg582=)
| |
1 | g.152313140C>A | CA342095600 | FLG | c.1746G>T (p.Arg582Ser)
| |
1 | g.152313140C= | CA2479952312 | FLG | c.1746G= (p.Arg582=)
| |
1 | g.152313140C>G | CA342095604 | FLG | c.1746G>C (p.Arg582Ser)
| dbSNP |
1 | g.152313140C>T | CA1107493 | FLG | c.1746G>A (p.Arg582=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313141del | CA2479952313 | FLG | c.1746del (p.Arg582SerfsTer?)
| dbSNP gnomAD v4 |
1 | g.152313141C>A | CA342095618 | FLG | c.1745G>T (p.Arg582Met)
| COSMIC |
1 | g.152313141C= | CA2479952314 | FLG | c.1745G= (p.Arg582=)
| |
1 | g.152313141C>G | CA30564912 | FLG | c.1745G>C (p.Arg582Thr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152313141C>T | CA342095619 | FLG | c.1745G>A (p.Arg582Lys)
| |
1 | g.152313142T>A | CA342095626 | FLG | c.1744A>T (p.Arg582Trp)
| |
1 | g.152313142T>C | CA342095622 | FLG | c.1744A>G (p.Arg582Gly)
| |
1 | g.152313142T>G | CA420931297 | FLG | c.1744A>C (p.Arg582=)
| gnomAD v4 |
1 | g.152313143G>A | CA1107494 | FLG | c.1743C>T (p.Thr581=)
| dbSNP ExAC gnomAD v4 |
1 | g.152313143G>C | CA420931303 | FLG | c.1743C>G (p.Thr581=)
| |
1 | g.152313143G= | CA2479952315 | FLG | c.1743C= (p.Thr581=)
| |
1 | g.152313143G>T | CA420931305 | FLG | c.1743C>A (p.Thr581=)
| dbSNP gnomAD v4 |
1 | g.152313144G>A | CA1107495 | FLG | c.1742C>T (p.Thr581Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313144G>C | CA342095636 | FLG | c.1742C>G (p.Thr581Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152313144G= | CA1147520419 | FLG | c.1742C= (p.Thr581=)
| |
1 | g.152313144G>T | CA342095638 | FLG | c.1742C>A (p.Thr581Asn)
| COSMIC |
1 | g.152313145T>A | CA1107496 | FLG | c.1741A>T (p.Thr581Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313145T>C | CA342095646 | FLG | c.1741A>G (p.Thr581Ala)
| gnomAD v4 |
1 | g.152313145T>G | CA342095658 | FLG | c.1741A>C (p.Thr581Pro)
| gnomAD v4 |
1 | g.152313145T= | CA1142065706 | FLG | c.1741A= (p.Thr581=)
| |
1 | g.152313146G>A | CA420931310 | FLG | c.1740C>T (p.Gly580=)
| |
1 | g.152313146G>C | CA420931311 | FLG | c.1740C>G (p.Gly580=)
| |
1 | g.152313146G>T | CA420931312 | FLG | c.1740C>A (p.Gly580=)
| |
1 | g.152313147C>A | CA342095667 | FLG | c.1739G>T (p.Gly580Val)
| |
1 | g.152313147C>G | CA342095669 | FLG | c.1739G>C (p.Gly580Ala)
| |
1 | g.152313147C>T | CA342095671 | FLG | c.1739G>A (p.Gly580Asp)
| gnomAD v4 |
1 | g.152313148del | CA2499214186 | FLG | c.1739del (p.Gly580AlafsTer?)
| ClinVar dbSNP |
1 | g.152313148C>A | CA342095679 | FLG | c.1738G>T (p.Gly580Cys)
| dbSNP gnomAD v4 |
1 | g.152313148C= | CA1141977318 | FLG | c.1738G= (p.Gly580=)
| |
1 | g.152313148C>G | CA1107498 | FLG | c.1738G>C (p.Gly580Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313148C>T | CA1107497 | FLG | c.1738G>A (p.Gly580Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152313149G>A | CA1107499 | FLG | c.1737C>T (p.Asp579=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313149G>C | CA342095710 | FLG | c.1737C>G (p.Asp579Glu)
| |
1 | g.152313149G= | CA1142032733 | FLG | c.1737C= (p.Asp579=)
| |
1 | g.152313149G>T | CA342095693 | FLG | c.1737C>A (p.Asp579Glu)
| |
1 | g.152313150T>A | CA342095729 | FLG | c.1736A>T (p.Asp579Val)
| |
1 | g.152313150T>C | CA342095726 | FLG | c.1736A>G (p.Asp579Gly)
| |
1 | g.152313150T>G | CA342095727 | FLG | c.1736A>C (p.Asp579Ala)
| |
1 | g.152313151C>A | CA342095731 | FLG | c.1735G>T (p.Asp579Tyr)
| COSMIC |
1 | g.152313151C= | CA2479952316 | FLG | c.1735G= (p.Asp579=)
| |
1 | g.152313151C>G | CA342095733 | FLG | c.1735G>C (p.Asp579His)
| |
1 | g.152313151C>T | CA1107500 | FLG | c.1735G>A (p.Asp579Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152313152T>A | CA420931323 | FLG | c.1734A>T (p.Gly578=)
| |
1 | g.152313152T>C | CA420931325 | FLG | c.1734A>G (p.Gly578=)
| |
1 | g.152313152T>G | CA420931326 | FLG | c.1734A>C (p.Gly578=)
| |
1 | g.152313153C>A | CA342095749 | FLG | c.1733G>T (p.Gly578Val)
| |
1 | g.152313153C>G | CA342095743 | FLG | c.1733G>C (p.Gly578Ala)
| gnomAD v4 |
1 | g.152313153C>T | CA342095738 | FLG | c.1733G>A (p.Gly578Glu)
| gnomAD v4 |
1 | g.152313154C>A | CA342095762 | FLG | c.1732G>T (p.Gly578Ter)
| |
1 | g.152313154C= | CA2479952317 | FLG | c.1732G= (p.Gly578=)
| |
1 | g.152313154C>G | CA342095766 | FLG | c.1732G>C (p.Gly578Arg)
| dbSNP |
1 | g.152313154C>T | CA342095774 | FLG | c.1732G>A (p.Gly578Arg)
| gnomAD v4 COSMIC |
1 | g.152313155T>A | CA420931329 | FLG | c.1731A>T (p.Ser577=)
| |
1 | g.152313155T>C | CA420931330 | FLG | c.1731A>G (p.Ser577=)
| |
1 | g.152313155T>G | CA420931331 | FLG | c.1731A>C (p.Ser577=)
| |
1 | g.152313156G>A | CA342095778 | FLG | c.1730C>T (p.Ser577Leu)
| dbSNP |
1 | g.152313156G>C | CA342095781 | FLG | c.1730C>G (p.Ser577Ter)
| |
1 | g.152313156G= | CA2479952318 | FLG | c.1730C= (p.Ser577=)
| |
1 | g.152313156G>T | CA342095785 | FLG | c.1730C>A (p.Ser577Ter)
| |
1 | g.152313157A= | CA2479952319 | FLG | c.1729T= (p.Ser577=)
| |
1 | g.152313157A>C | CA342095789 | FLG | c.1729T>G (p.Ser577Ala)
| gnomAD v4 |
1 | g.152313157A>G | CA342095799 | FLG | c.1729T>C (p.Ser577Pro)
| gnomAD v4 |
1 | g.152313157A>T | CA342095795 | FLG | c.1729T>A (p.Ser577Thr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152313158T>A | CA342095807 | FLG | c.1728A>T (p.Gln576His)
| |
1 | g.152313158T>C | CA1107501 | FLG | c.1728A>G (p.Gln576=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313158T>G | CA342095815 | FLG | c.1728A>C (p.Gln576His)
| |
1 | g.152313158T= | CA1147704063 | FLG | c.1728A= (p.Gln576=)
| |
1 | g.152313159T>A | CA342095819 | FLG | c.1727A>T (p.Gln576Leu)
| |
1 | g.152313159T>C | CA342095822 | FLG | c.1727A>G (p.Gln576Arg)
| |
1 | g.152313159T>G | CA342095827 | FLG | c.1727A>C (p.Gln576Pro)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152313159T= | CA2479952320 | FLG | c.1727A= (p.Gln576=)
| |
1 | g.152313160G>A | CA342095831 | FLG | c.1726C>T (p.Gln576Ter)
| dbSNP |
1 | g.152313160G>C | CA342095834 | FLG | c.1726C>G (p.Gln576Glu)
| gnomAD v4 |
1 | g.152313160G= | CA1148378685 | FLG | c.1726C= (p.Gln576=)
| |
1 | g.152313160G>T | CA1107502 | FLG | c.1726C>A (p.Gln576Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152313161T>A | CA1107503 | FLG | c.1725A>T (p.Glu575Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313161T>C | CA420931340 | FLG | c.1725A>G (p.Glu575=)
| |
1 | g.152313161T>G | CA342095841 | FLG | c.1725A>C (p.Glu575Asp)
| |
1 | g.152313161T= | CA1145327955 | FLG | c.1725A= (p.Glu575=)
| |
1 | g.152313162del | CA2647993649 | FLG | c.1725del (p.Glu575AspfsTer?)
| gnomAD v4 |
1 | g.152313162T>A | CA342095849 | FLG | c.1724A>T (p.Glu575Val)
| |
1 | g.152313162T>C | CA342095851 | FLG | c.1724A>G (p.Glu575Gly)
| |
1 | g.152313162T>G | CA342095847 | FLG | c.1724A>C (p.Glu575Ala)
| gnomAD v4 |
1 | g.152313163C>A | CA342095852 | FLG | c.1723G>T (p.Glu575Ter)
| |
1 | g.152313163C= | CA1142853765 | FLG | c.1723G= (p.Glu575=)
| |
1 | g.152313163C>G | CA1107505 | FLG | c.1723G>C (p.Glu575Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152313163C>T | CA1107504 | FLG | c.1723G>A (p.Glu575Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152313164C>A | CA342095860 | FLG | c.1722G>T (p.Glu574Asp)
| dbSNP gnomAD v4 |
1 | g.152313164C= | CA2479952322 | FLG | c.1722G= (p.Glu574=)
| |
1 | g.152313164C>G | CA342095861 | FLG | c.1722G>C (p.Glu574Asp)
| gnomAD v4 |
1 | g.152313164C>T | CA420931346 | FLG | c.1722G>A (p.Glu574=)
| gnomAD v4 |
1 | g.152313164_152313165delinsCT | CA2479952321 | FLG | c.1721_1722delinsAG (p.Glu574=)
| |
1 | g.152313165del | CA1107506 | FLG | c.1721del (p.Glu574GlyfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152313165T>A | CA342095862 | FLG | c.1721A>T (p.Glu574Val)
| gnomAD v4 |
1 | g.152313165T>C | CA342095865 | FLG | c.1721A>G (p.Glu574Gly)
| gnomAD v4 |
1 | g.152313165T>G | CA342095869 | FLG | c.1721A>C (p.Glu574Ala)
| |
1 | g.152313165T= | CA1148237612 | FLG | c.1721A= (p.Glu574=)
| |
1 | g.152313166C>A | CA342095876 | FLG | c.1720G>T (p.Glu574Ter)
| |
1 | g.152313166C>G | CA342095881 | FLG | c.1720G>C (p.Glu574Gln)
| |
1 | g.152313166C>T | CA342095885 | FLG | c.1720G>A (p.Glu574Lys)
| COSMIC |
1 | g.152313167A= | CA2479952323 | FLG | c.1719T= (p.Asn573=)
| |
1 | g.152313167A>C | CA1107507 | FLG | c.1719T>G (p.Asn573Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152313167A>G | CA420931355 | FLG | c.1719T>C (p.Asn573=)
| gnomAD v4 |
1 | g.152313167A>T | CA342095888 | FLG | c.1719T>A (p.Asn573Lys)
| |