| 1 | g.152308919_152309499del | CA2580611196 | FLG | c.5387_5967del (p.Gln1796ArgfsTer6)
| ClinVar |
| 1 | g.152309124T>A | CA342061312 | FLG | c.5762A>T (p.Asp1921Val)
| |
| 1 | g.152309124T>C | CA342061319 | FLG | c.5762A>G (p.Asp1921Gly)
| dbSNP gnomAD v4 |
| 1 | g.152309124T>G | CA342061323 | FLG | c.5762A>C (p.Asp1921Ala)
| |
| 1 | g.152309124T= | CA2479950101 | FLG | c.5762A= (p.Asp1921=)
| |
| 1 | g.152309125C>A | CA1105602 | FLG | c.5761G>T (p.Asp1921Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309125C= | CA2479950102 | FLG | c.5761G= (p.Asp1921=)
| |
| 1 | g.152309125C>G | CA342061325 | FLG | c.5761G>C (p.Asp1921His)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152309125C>T | CA342061332 | FLG | c.5761G>A (p.Asp1921Asn)
| gnomAD v4 |
| 1 | g.152309125_152309129delinsCCTGG | CA2479950103 | FLG | c.5757_5761delinsCCAGG (p.Ser1919=)
| |
| 1 | g.152309126C>A | CA342061337 | FLG | c.5760G>T (p.Gln1920His)
| |
| 1 | g.152309126C>G | CA342061343 | FLG | c.5760G>C (p.Gln1920His)
| gnomAD v4 |
| 1 | g.152309126C>T | CA420929360 | FLG | c.5760G>A (p.Gln1920=)
| gnomAD v4 |
| 1 | g.152309128_152309131del | CA1105601 | FLG | c.5757_5760del (p.Ser1919ArgfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309127T>A | CA342061354 | FLG | c.5759A>T (p.Gln1920Leu)
| |
| 1 | g.152309127T>C | CA342061363 | FLG | c.5759A>G (p.Gln1920Arg)
| |
| 1 | g.152309127T>G | CA342061350 | FLG | c.5759A>C (p.Gln1920Pro)
| |
| 1 | g.152309128G>A | CA342061367 | FLG | c.5758C>T (p.Gln1920Ter)
| |
| 1 | g.152309128G>C | CA342061368 | FLG | c.5758C>G (p.Gln1920Glu)
| gnomAD v4 |
| 1 | g.152309128G>T | CA342061369 | FLG | c.5758C>A (p.Gln1920Lys)
| COSMIC |
| 1 | g.152309129G>A | CA420929361 | FLG | c.5757C>T (p.Ser1919=)
| dbSNP gnomAD v4 |
| 1 | g.152309129G>C | CA342061370 | FLG | c.5757C>G (p.Ser1919Arg)
| |
| 1 | g.152309129G>T | CA342061373 | FLG | c.5757C>A (p.Ser1919Arg)
| |
| 1 | g.152309130C>A | CA30551852 | FLG | c.5756G>T (p.Ser1919Ile)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152309130C= | CA2479950104 | FLG | c.5756G= (p.Ser1919=)
| |
| 1 | g.152309130C>G | CA1105603 | FLG | c.5756G>C (p.Ser1919Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309130C>T | CA342061386 | FLG | c.5756G>A (p.Ser1919Asn)
| |
| 1 | g.152309131T>A | CA342061393 | FLG | c.5755A>T (p.Ser1919Cys)
| |
| 1 | g.152309131T>C | CA342061395 | FLG | c.5755A>G (p.Ser1919Gly)
| |
| 1 | g.152309131T>G | CA342061397 | FLG | c.5755A>C (p.Ser1919Arg)
| |
| 1 | g.152309132A= | CA2479950105 | FLG | c.5754T= (p.Val1918=)
| |
| 1 | g.152309132A>C | CA420929362 | FLG | c.5754T>G (p.Val1918=)
| dbSNP gnomAD v4 |
| 1 | g.152309132A>G | CA420929364 | FLG | c.5754T>C (p.Val1918=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309132A>T | CA420929363 | FLG | c.5754T>A (p.Val1918=)
| |
| 1 | g.152309133A= | CA2479950106 | FLG | c.5753T= (p.Val1918=)
| |
| 1 | g.152309133A>C | CA342061405 | FLG | c.5753T>G (p.Val1918Gly)
| |
| 1 | g.152309133A>G | CA342061411 | FLG | c.5753T>C (p.Val1918Ala)
| COSMIC |
| 1 | g.152309133A>T | CA342061415 | FLG | c.5753T>A (p.Val1918Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152309134C>A | CA1105604 | FLG | c.5752G>T (p.Val1918Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152309134C= | CA2479950107 | FLG | c.5752G= (p.Val1918=)
| |
| 1 | g.152309134C>G | CA342061418 | FLG | c.5752G>C (p.Val1918Leu)
| |
| 1 | g.152309134C>T | CA342061417 | FLG | c.5752G>A (p.Val1918Ile)
| |
| 1 | g.152309135A= | CA2479950108 | FLG | c.5751T= (p.Ser1917=)
| |
| 1 | g.152309135A>C | CA342061422 | FLG | c.5751T>G (p.Ser1917Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152309135A>G | CA420929368 | FLG | c.5751T>C (p.Ser1917=)
| |
| 1 | g.152309135A>T | CA342061420 | FLG | c.5751T>A (p.Ser1917Arg)
| |
| 1 | g.152309136C>A | CA342061433 | FLG | c.5750G>T (p.Ser1917Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152309136C= | CA2479950109 | FLG | c.5750G= (p.Ser1917=)
| |
| 1 | g.152309136C>G | CA342061425 | FLG | c.5750G>C (p.Ser1917Thr)
| gnomAD v4 |
| 1 | g.152309136C>T | CA342061429 | FLG | c.5750G>A (p.Ser1917Asn)
| |
| 1 | g.152309137T>A | CA342061439 | FLG | c.5749A>T (p.Ser1917Cys)
| |
| 1 | g.152309137T>C | CA342061443 | FLG | c.5749A>G (p.Ser1917Gly)
| |
| 1 | g.152309137T>G | CA342061446 | FLG | c.5749A>C (p.Ser1917Arg)
| gnomAD v4 |
| 1 | g.152309137T= | CA1140571634 | FLG | c.5749A= (p.Ser1917=)
| |
| 1 | g.152309137dup | CA30551860 | FLG | c.5749dup (p.Ser1917LysfsTer3)
| dbSNP |
| 1 | g.152309137_152309138delinsTG | CA2479950110 | FLG | c.5748_5749delinsCA (p.Ser1916=)
| |
| 1 | g.152309138G>A | CA1105606 | FLG | c.5748C>T (p.Ser1916=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309138G>C | CA420929370 | FLG | c.5748C>G (p.Ser1916=)
| |
| 1 | g.152309138G= | CA1148022518 | FLG | c.5748C= (p.Ser1916=)
| |
| 1 | g.152309138G>T | CA420929369 | FLG | c.5748C>A (p.Ser1916=)
| |
| 1 | g.152309139del | CA1105605 | FLG | c.5748del (p.Ser1917ValfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152309139G>A | CA1105607 | FLG | c.5747C>T (p.Ser1916Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152309139G>C | CA342061463 | FLG | c.5747C>G (p.Ser1916Cys)
| dbSNP gnomAD v4 |
| 1 | g.152309139G= | CA2479950111 | FLG | c.5747C= (p.Ser1916=)
| |
| 1 | g.152309139G>T | CA342061466 | FLG | c.5747C>A (p.Ser1916Tyr)
| COSMIC |
| 1 | g.152309140A= | CA1145673272 | FLG | c.5746T= (p.Ser1916=)
| |
| 1 | g.152309140A>C | CA342061471 | FLG | c.5746T>G (p.Ser1916Ala)
| |
| 1 | g.152309140A>G | CA1105608 | FLG | c.5746T>C (p.Ser1916Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309140A>T | CA342061478 | FLG | c.5746T>A (p.Ser1916Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152309141T>A | CA420929371 | FLG | c.5745A>T (p.Gly1915=)
| |
| 1 | g.152309141T>C | CA420929373 | FLG | c.5745A>G (p.Gly1915=)
| |
| 1 | g.152309141T>G | CA420929372 | FLG | c.5745A>C (p.Gly1915=)
| |
| 1 | g.152309142C>A | CA1105609 | FLG | c.5744G>T (p.Gly1915Val)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.152309142C= | CA1142059574 | FLG | c.5744G= (p.Gly1915=)
| |
| 1 | g.152309142C>G | CA342061479 | FLG | c.5744G>C (p.Gly1915Ala)
| |
| 1 | g.152309142C>T | CA342061492 | FLG | c.5744G>A (p.Gly1915Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152309143C>A | CA342061498 | FLG | c.5743G>T (p.Gly1915Ter)
| |
| 1 | g.152309143C= | CA2479950112 | FLG | c.5743G= (p.Gly1915=)
| |
| 1 | g.152309143C>G | CA342061503 | FLG | c.5743G>C (p.Gly1915Arg)
| |
| 1 | g.152309143C>T | CA1105610 | FLG | c.5743G>A (p.Gly1915Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152309144C>A | CA342061506 | FLG | c.5742G>T (p.Gln1914His)
| |
| 1 | g.152309144C= | CA1148403469 | FLG | c.5742G= (p.Gln1914=)
| |
| 1 | g.152309144C>G | CA342061511 | FLG | c.5742G>C (p.Gln1914His)
| |
| 1 | g.152309144C>T | CA1105611 | FLG | c.5742G>A (p.Gln1914=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309145T>A | CA342061521 | FLG | c.5741A>T (p.Gln1914Leu)
| dbSNP |
| 1 | g.152309145T>C | CA1105612 | FLG | c.5741A>G (p.Gln1914Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309145T>G | CA342061524 | FLG | c.5741A>C (p.Gln1914Pro)
| |
| 1 | g.152309145T= | CA1140539131 | FLG | c.5741A= (p.Gln1914=)
| |
| 1 | g.152309145_152309146insC | CA2746124213 | FLG | c.5740_5741insG (p.Gln1914ArgfsTer6)
| |
| 1 | g.152309146G>A | CA342061528 | FLG | c.5740C>T (p.Gln1914Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152309146G>C | CA1105613 | FLG | c.5740C>G (p.Gln1914Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309146G= | CA2479950113 | FLG | c.5740C= (p.Gln1914=)
| |
| 1 | g.152309146G>T | CA1105614 | FLG | c.5740C>A (p.Gln1914Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152309147del | CA2574058022 | FLG | c.5740del (p.Gln1914ArgfsTer?)
| |
| 1 | g.152309147G>A | CA420929374 | FLG | c.5739C>T (p.Asn1913=)
| dbSNP |
| 1 | g.152309147G>C | CA342061533 | FLG | c.5739C>G (p.Asn1913Lys)
| gnomAD v4 |
| 1 | g.152309147G= | CA1144299436 | FLG | c.5739C= (p.Asn1913=)
| |
| 1 | g.152309147G>T | CA1105615 | FLG | c.5739C>A (p.Asn1913Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309148T>A | CA342061535 | FLG | c.5738A>T (p.Asn1913Ile)
| |
| 1 | g.152309148T>C | CA1105616 | FLG | c.5738A>G (p.Asn1913Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309148T>G | CA342061539 | FLG | c.5738A>C (p.Asn1913Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309148T= | CA1145312000 | FLG | c.5738A= (p.Asn1913=)
| |
| 1 | g.152309149_152309156del | CA2746124214 | FLG | c.5731_5738del (p.Ser1911ProfsTer6)
| |
| 1 | g.152309149T>A | CA342061542 | FLG | c.5737A>T (p.Asn1913Tyr)
| dbSNP gnomAD v2 |
| 1 | g.152309149T>C | CA342061543 | FLG | c.5737A>G (p.Asn1913Asp)
| gnomAD v4 |
| 1 | g.152309149T>G | CA1105617 | FLG | c.5737A>C (p.Asn1913His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309149T= | CA1146841011 | FLG | c.5737A= (p.Asn1913=)
| |
| 1 | g.152309150C>A | CA342061546 | FLG | c.5736G>T (p.Arg1912Ser)
| |
| 1 | g.152309150C= | CA2479950114 | FLG | c.5736G= (p.Arg1912=)
| |
| 1 | g.152309150C>G | CA342061548 | FLG | c.5736G>C (p.Arg1912Ser)
| |
| 1 | g.152309150C>T | CA30551896 | FLG | c.5736G>A (p.Arg1912=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152309151C>A | CA342061553 | FLG | c.5735G>T (p.Arg1912Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309151C= | CA2479950115 | FLG | c.5735G= (p.Arg1912=)
| |
| 1 | g.152309151C>G | CA342061554 | FLG | c.5735G>C (p.Arg1912Thr)
| gnomAD v4 |
| 1 | g.152309151C>T | CA342061555 | FLG | c.5735G>A (p.Arg1912Lys)
| gnomAD v4 |
| 1 | g.152309152T>A | CA342061559 | FLG | c.5734A>T (p.Arg1912Trp)
| |
| 1 | g.152309152T>C | CA1105618 | FLG | c.5734A>G (p.Arg1912Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152309152T>G | CA420929375 | FLG | c.5734A>C (p.Arg1912=)
| |
| 1 | g.152309152T= | CA2479950116 | FLG | c.5734A= (p.Arg1912=)
| |
| 1 | g.152309153G>A | CA420929376 | FLG | c.5733C>T (p.Ser1911=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309153G>C | CA342061573 | FLG | c.5733C>G (p.Ser1911Arg)
| dbSNP |
| 1 | g.152309153G= | CA2479950117 | FLG | c.5733C= (p.Ser1911=)
| |
| 1 | g.152309153G>T | CA342061569 | FLG | c.5733C>A (p.Ser1911Arg)
| |
| 1 | g.152309154C>A | CA342061577 | FLG | c.5732G>T (p.Ser1911Ile)
| |
| 1 | g.152309154C= | CA2479950118 | FLG | c.5732G= (p.Ser1911=)
| |
| 1 | g.152309154C>G | CA342061581 | FLG | c.5732G>C (p.Ser1911Thr)
| gnomAD v4 |
| 1 | g.152309154C>T | CA1105619 | FLG | c.5732G>A (p.Ser1911Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309155T>A | CA342061586 | FLG | c.5731A>T (p.Ser1911Cys)
| gnomAD v4 |
| 1 | g.152309155T>C | CA342061590 | FLG | c.5731A>G (p.Ser1911Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152309155T>G | CA342061595 | FLG | c.5731A>C (p.Ser1911Arg)
| |
| 1 | g.152309155T= | CA2479950119 | FLG | c.5731A= (p.Ser1911=)
| |
| 1 | g.152309156T>A | CA1105620 | FLG | c.5730A>T (p.Thr1910=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309156T>C | CA420929378 | FLG | c.5730A>G (p.Thr1910=)
| |
| 1 | g.152309156T>G | CA420929377 | FLG | c.5730A>C (p.Thr1910=)
| |
| 1 | g.152309156T= | CA1142883741 | FLG | c.5730A= (p.Thr1910=)
| |
| 1 | g.152309157G>A | CA1105622 | FLG | c.5729C>T (p.Thr1910Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152309157G>C | CA342061607 | FLG | c.5729C>G (p.Thr1910Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152309157G= | CA1145977662 | FLG | c.5729C= (p.Thr1910=)
| |
| 1 | g.152309157G>T | CA1105621 | FLG | c.5729C>A (p.Thr1910Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309158T>A | CA342061612 | FLG | c.5728A>T (p.Thr1910Ser)
| gnomAD v4 |
| 1 | g.152309158T>C | CA342061613 | FLG | c.5728A>G (p.Thr1910Ala)
| |
| 1 | g.152309158T>G | CA342061616 | FLG | c.5728A>C (p.Thr1910Pro)
| |
| 1 | g.152309159C>A | CA1105623 | FLG | c.5727G>T (p.Arg1909Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309159C= | CA1141283074 | FLG | c.5727G= (p.Arg1909=)
| |
| 1 | g.152309159C>G | CA342061622 | FLG | c.5727G>C (p.Arg1909Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152309159C>T | CA1105624 | FLG | c.5727G>A (p.Arg1909=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152309160C>A | CA342061624 | FLG | c.5726G>T (p.Arg1909Met)
| |
| 1 | g.152309160C= | CA2479950120 | FLG | c.5726G= (p.Arg1909=)
| |
| 1 | g.152309160C>G | CA342061647 | FLG | c.5726G>C (p.Arg1909Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152309160C>T | CA342061643 | FLG | c.5726G>A (p.Arg1909Lys)
| gnomAD v4 |
| 1 | g.152309161T>A | CA342061652 | FLG | c.5725A>T (p.Arg1909Trp)
| |
| 1 | g.152309161T>C | CA342061655 | FLG | c.5725A>G (p.Arg1909Gly)
| |
| 1 | g.152309161T>G | CA420929379 | FLG | c.5725A>C (p.Arg1909=)
| dbSNP gnomAD v2 |
| 1 | g.152309161T= | CA2479950121 | FLG | c.5725A= (p.Arg1909=)
| |
| 1 | g.152309161_152309172del | CA2746124218 | FLG | c.5714_5725del (p.Ser1905_Arg1909delinsTrp)
| |
| 1 | g.152309162G>A | CA420929380 | FLG | c.5724C>T (p.Pro1908=)
| |
| 1 | g.152309162G>C | CA420929381 | FLG | c.5724C>G (p.Pro1908=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152309162G= | CA2479950122 | FLG | c.5724C= (p.Pro1908=)
| |
| 1 | g.152309162G>T | CA420929382 | FLG | c.5724C>A (p.Pro1908=)
| |
| 1 | g.152309163G>A | CA1105625 | FLG | c.5723C>T (p.Pro1908Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309163G>C | CA342061664 | FLG | c.5723C>G (p.Pro1908Arg)
| dbSNP |
| 1 | g.152309163G= | CA2479950123 | FLG | c.5723C= (p.Pro1908=)
| |
| 1 | g.152309163G>T | CA342061667 | FLG | c.5723C>A (p.Pro1908His)
| |
| 1 | g.152309164G>A | CA1105626 | FLG | c.5722C>T (p.Pro1908Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309164G>C | CA342061673 | FLG | c.5722C>G (p.Pro1908Ala)
| |
| 1 | g.152309164G= | CA1141818276 | FLG | c.5722C= (p.Pro1908=)
| |
| 1 | g.152309164G>T | CA342061678 | FLG | c.5722C>A (p.Pro1908Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152309165C>A | CA420929383 | FLG | c.5721G>T (p.Gly1907=)
| dbSNP gnomAD v4 |
| 1 | g.152309165C= | CA2479950124 | FLG | c.5721G= (p.Gly1907=)
| |
| 1 | g.152309165C>G | CA420929384 | FLG | c.5721G>C (p.Gly1907=)
| |
| 1 | g.152309165C>T | CA1105627 | FLG | c.5721G>A (p.Gly1907=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309166C>A | CA342061690 | FLG | c.5720G>T (p.Gly1907Val)
| gnomAD v4 |
| 1 | g.152309166C= | CA2479950125 | FLG | c.5720G= (p.Gly1907=)
| |
| 1 | g.152309166C>G | CA342061692 | FLG | c.5720G>C (p.Gly1907Ala)
| |
| 1 | g.152309166C>T | CA342061696 | FLG | c.5720G>A (p.Gly1907Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152309167C>A | CA342061699 | FLG | c.5719G>T (p.Gly1907Trp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152309167C= | CA2479950126 | FLG | c.5719G= (p.Gly1907=)
| |
| 1 | g.152309167C>G | CA342061705 | FLG | c.5719G>C (p.Gly1907Arg)
| |
| 1 | g.152309167C>T | CA342061709 | FLG | c.5719G>A (p.Gly1907Arg)
| |
| 1 | g.152309168T>A | CA420929385 | FLG | c.5718A>T (p.Ser1906=)
| |
| 1 | g.152309168T>C | CA1105628 | FLG | c.5718A>G (p.Ser1906=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309168T>G | CA420929386 | FLG | c.5718A>C (p.Ser1906=)
| |
| 1 | g.152309168T= | CA1144641331 | FLG | c.5718A= (p.Ser1906=)
| |
| 1 | g.152309169G>A | CA1105630 | FLG | c.5717C>T (p.Ser1906Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309169G>C | CA342061719 | FLG | c.5717C>G (p.Ser1906Ter)
| |
| 1 | g.152309169G= | CA1141826454 | FLG | c.5717C= (p.Ser1906=)
| |
| 1 | g.152309169G>T | CA1105629 | FLG | c.5717C>A (p.Ser1906Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309170A= | CA1142000078 | FLG | c.5716T= (p.Ser1906=)
| |
| 1 | g.152309170A>C | CA1105631 | FLG | c.5716T>G (p.Ser1906Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309170A>G | CA1105632 | FLG | c.5716T>C (p.Ser1906Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309170A>T | CA342061732 | FLG | c.5716T>A (p.Ser1906Thr)
| gnomAD v4 |
| 1 | g.152309171T>A | CA420929387 | FLG | c.5715A>T (p.Ser1905=)
| |
| 1 | g.152309171T>C | CA420929388 | FLG | c.5715A>G (p.Ser1905=)
| |
| 1 | g.152309171T>G | CA420929389 | FLG | c.5715A>C (p.Ser1905=)
| |
| 1 | g.152309172G>A | CA342061737 | FLG | c.5714C>T (p.Ser1905Leu)
| gnomAD v4 |
| 1 | g.152309172G>C | CA342061743 | FLG | c.5714C>G (p.Ser1905Ter)
| |
| 1 | g.152309172G>T | CA342061748 | FLG | c.5714C>A (p.Ser1905Ter)
| |
| 1 | g.152309173A= | CA2479950127 | FLG | c.5713T= (p.Ser1905=)
| |
| 1 | g.152309173A>C | CA342061752 | FLG | c.5713T>G (p.Ser1905Ala)
| |
| 1 | g.152309173A>G | CA342061755 | FLG | c.5713T>C (p.Ser1905Pro)
| dbSNP |
| 1 | g.152309173A>T | CA342061759 | FLG | c.5713T>A (p.Ser1905Thr)
| |
| 1 | g.152309174T>A | CA342061764 | FLG | c.5712A>T (p.Gln1904His)
| |
| 1 | g.152309174T>C | CA420929390 | FLG | c.5712A>G (p.Gln1904=)
| |
| 1 | g.152309174T>G | CA342061768 | FLG | c.5712A>C (p.Gln1904His)
| |
| 1 | g.152309175T>A | CA342061774 | FLG | c.5711A>T (p.Gln1904Leu)
| gnomAD v4 |
| 1 | g.152309175T>C | CA342061777 | FLG | c.5711A>G (p.Gln1904Arg)
| |
| 1 | g.152309175T>G | CA342061781 | FLG | c.5711A>C (p.Gln1904Pro)
| |
| 1 | g.152309176G>A | CA342061788 | FLG | c.5710C>T (p.Gln1904Ter)
| dbSNP gnomAD v4 |
| 1 | g.152309176G>C | CA342061794 | FLG | c.5710C>G (p.Gln1904Glu)
| |
| 1 | g.152309176G= | CA1144828147 | FLG | c.5710C= (p.Gln1904=)
| |
| 1 | g.152309176G>T | CA1105633 | FLG | c.5710C>A (p.Gln1904Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152309177T>A | CA1105634 | FLG | c.5709A>T (p.Gly1903=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309177T>C | CA420929391 | FLG | c.5709A>G (p.Gly1903=)
| |
| 1 | g.152309177T>G | CA420929392 | FLG | c.5709A>C (p.Gly1903=)
| |
| 1 | g.152309177T= | CA1141712124 | FLG | c.5709A= (p.Gly1903=)
| |
| 1 | g.152309178C>A | CA342061803 | FLG | c.5708G>T (p.Gly1903Val)
| |
| 1 | g.152309178C= | CA2479950128 | FLG | c.5708G= (p.Gly1903=)
| |
| 1 | g.152309178C>G | CA342061807 | FLG | c.5708G>C (p.Gly1903Ala)
| |
| 1 | g.152309178C>T | CA342061810 | FLG | c.5708G>A (p.Gly1903Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309179C>A | CA342061814 | FLG | c.5707G>T (p.Gly1903Ter)
| |
| 1 | g.152309179C>G | CA342061817 | FLG | c.5707G>C (p.Gly1903Arg)
| |
| 1 | g.152309179C>T | CA342061820 | FLG | c.5707G>A (p.Gly1903Arg)
| gnomAD v4 |
| 1 | g.152309180C>A | CA342061824 | FLG | c.5706G>T (p.Gln1902His)
| |
| 1 | g.152309180C= | CA1146345934 | FLG | c.5706G= (p.Gln1902=)
| |
| 1 | g.152309180C>G | CA30551942 | FLG | c.5706G>C (p.Gln1902His)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152309180C>T | CA420929393 | FLG | c.5706G>A (p.Gln1902=)
| dbSNP gnomAD v4 |
| 1 | g.152309181T>A | CA342061833 | FLG | c.5705A>T (p.Gln1902Leu)
| |
| 1 | g.152309181T>C | CA30551954 | FLG | c.5705A>G (p.Gln1902Arg)
| dbSNP gnomAD v4 |
| 1 | g.152309181T>G | CA342061834 | FLG | c.5705A>C (p.Gln1902Pro)
| |
| 1 | g.152309181T= | CA2479950129 | FLG | c.5705A= (p.Gln1902=)
| |
| 1 | g.152309182G>A | CA342061838 | FLG | c.5704C>T (p.Gln1902Ter)
| |
| 1 | g.152309182G>C | CA342061841 | FLG | c.5704C>G (p.Gln1902Glu)
| |
| 1 | g.152309182G>T | CA342061850 | FLG | c.5704C>A (p.Gln1902Lys)
| |
| 1 | g.152309183G>A | CA1105635 | FLG | c.5703C>T (p.Gly1901=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309183G>C | CA420929394 | FLG | c.5703C>G (p.Gly1901=)
| |
| 1 | g.152309183G= | CA1140336183 | FLG | c.5703C= (p.Gly1901=)
| |
| 1 | g.152309183G>T | CA1105636 | FLG | c.5703C>A (p.Gly1901=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152309183_152309186del | CA2746124219 | FLG | c.5700_5703del (p.Gly1901ArgfsTer?)
| |
| 1 | g.152309183_152309187delinsGCCCA | CA2479950130 | FLG | c.5699_5703delinsTGGGC (p.Val1900=)
| |
| 1 | g.152309184C>A | CA1105637 | FLG | c.5702G>T (p.Gly1901Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309184C= | CA2479950132 | FLG | c.5702G= (p.Gly1901=)
| |
| 1 | g.152309184C>G | CA342061877 | FLG | c.5702G>C (p.Gly1901Ala)
| |
| 1 | g.152309184C>T | CA342061878 | FLG | c.5702G>A (p.Gly1901Asp)
| dbSNP gnomAD v4 |
| 1 | g.152309185_152309186del | CA2647993658 | FLG | c.5701_5702del (p.Gly1901ProfsTer18)
| gnomAD v4 |
| 1 | g.152309186_152309189del | CA2479950131 | FLG | c.5699_5702del (p.Val1900AlafsTer?)
| dbSNP gnomAD v4 |
| 1 | g.152309184_152309185insTGGA | CA2647993659 | FLG | c.5701_5702insTCCA (p.Gly1901ValfsTer20)
| gnomAD v4 |
| 1 | g.152309185C>A | CA342061885 | FLG | c.5701G>T (p.Gly1901Cys)
| |
| 1 | g.152309185C= | CA2479950134 | FLG | c.5701G= (p.Gly1901=)
| |
| 1 | g.152309185C>G | CA342061887 | FLG | c.5701G>C (p.Gly1901Arg)
| |
| 1 | g.152309185C>T | CA342061882 | FLG | c.5701G>A (p.Gly1901Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309185_152309190delinsCCACCT | CA2479950133 | FLG | c.5696_5701delinsAGGTGG (p.Gln1899=)
| |
| 1 | g.152309185_152309186insGGA | CA1007764793 | FLG | c.5700_5701insTCC (p.Val1900_Gly1901insSer)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152309186C>A | CA1105639 | FLG | c.5700G>T (p.Val1900=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309186C= | CA1145022623 | FLG | c.5700G= (p.Val1900=)
| |
| 1 | g.152309186C>G | CA1105638 | FLG | c.5700G>C (p.Val1900=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309186C>T | CA420929395 | FLG | c.5700G>A (p.Val1900=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309186_152309190del | CA2479950135 | FLG | c.5696_5700del (p.Gln1899ArgfsTer19)
| dbSNP |
| 1 | g.152309187A= | CA1146514491 | FLG | c.5699T= (p.Val1900=)
| |
| 1 | g.152309187A>C | CA342061897 | FLG | c.5699T>G (p.Val1900Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152309187A>G | CA1105640 | FLG | c.5699T>C (p.Val1900Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309187A>T | CA342061903 | FLG | c.5699T>A (p.Val1900Glu)
| |
| 1 | g.152309188C>A | CA1105641 | FLG | c.5698G>T (p.Val1900Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309188C= | CA1148025339 | FLG | c.5698G= (p.Val1900=)
| |
| 1 | g.152309188C>G | CA342061910 | FLG | c.5698G>C (p.Val1900Leu)
| |
| 1 | g.152309188C>T | CA342061924 | FLG | c.5698G>A (p.Val1900Met)
| |
| 1 | g.152309189del | CA2746124221 | FLG | c.5698del (p.Val1900TrpfsTer?)
| |
| 1 | g.152309188_152309189insTGGA | CA2479950137 | FLG | c.5697_5698insTCCA (p.Val1900SerfsTer21)
| dbSNP |
| 1 | g.152309189C>A | CA342061927 | FLG | c.5697G>T (p.Gln1899His)
| |
| 1 | g.152309189C= | CA2479950136 | FLG | c.5697G= (p.Gln1899=)
| |
| 1 | g.152309189C>G | CA342061938 | FLG | c.5697G>C (p.Gln1899His)
| |
| 1 | g.152309189C>T | CA420929396 | FLG | c.5697G>A (p.Gln1899=)
| dbSNP gnomAD v4 |
| 1 | g.152309190T>A | CA342061944 | FLG | c.5696A>T (p.Gln1899Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152309190T>C | CA342061949 | FLG | c.5696A>G (p.Gln1899Arg)
| |
| 1 | g.152309190T>G | CA342061960 | FLG | c.5696A>C (p.Gln1899Pro)
| gnomAD v4 |
| 1 | g.152309190T= | CA2479950138 | FLG | c.5696A= (p.Gln1899=)
| |
| 1 | g.152309191G>A | CA342061972 | FLG | c.5695C>T (p.Gln1899Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152309191G>C | CA342061968 | FLG | c.5695C>G (p.Gln1899Glu)
| |
| 1 | g.152309191G= | CA2479950139 | FLG | c.5695C= (p.Gln1899=)
| |
| 1 | g.152309191G>T | CA342061964 | FLG | c.5695C>A (p.Gln1899Lys)
| ClinVar |
| 1 | g.152309191_152309192delinsGC | CA2479950140 | FLG | c.5694_5695delinsGC (p.Ser1898=)
| |
| 1 | g.152309192del | CA2479950141 | FLG | c.5694del (p.Gln1899ArgfsTer?)
| dbSNP |
| 1 | g.152309192C>A | CA420929398 | FLG | c.5694G>T (p.Ser1898=)
| gnomAD v4 |
| 1 | g.152309192C= | CA1145637344 | FLG | c.5694G= (p.Ser1898=)
| |
| 1 | g.152309192C>G | CA420929397 | FLG | c.5694G>C (p.Ser1898=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309192C>T | CA1105642 | FLG | c.5694G>A (p.Ser1898=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152309193G>A | CA1105643 | FLG | c.5693C>T (p.Ser1898Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152309193G>C | CA342061984 | FLG | c.5693C>G (p.Ser1898Trp)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152309193G= | CA2479950142 | FLG | c.5693C= (p.Ser1898=)
| |
| 1 | g.152309193G>T | CA342061987 | FLG | c.5693C>A (p.Ser1898Ter)
| |
| 1 | g.152309194_152309197dup | CA2574058027 | FLG | c.5690_5693dup (p.Gln1899LeufsTer22)
| |
| 1 | g.152309193_152309215del | CA2746124222 | FLG | c.5671_5693del (p.Arg1891AlafsTer21)
| |
| 1 | g.152309194A= | CA2479950143 | FLG | c.5692T= (p.Ser1898=)
| |
| 1 | g.152309194A>C | CA342061990 | FLG | c.5692T>G (p.Ser1898Ala)
| |
| 1 | g.152309194A>G | CA342061994 | FLG | c.5692T>C (p.Ser1898Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152309194A>T | CA342061997 | FLG | c.5692T>A (p.Ser1898Thr)
| |
| 1 | g.152309195G>A | CA420929399 | FLG | c.5691C>T (p.His1897=)
| |
| 1 | g.152309195G>C | CA342061998 | FLG | c.5691C>G (p.His1897Gln)
| dbSNP |
| 1 | g.152309195G= | CA2479950145 | FLG | c.5691C= (p.His1897=)
| |
| 1 | g.152309195G>T | CA342061999 | FLG | c.5691C>A (p.His1897Gln)
| gnomAD v4 COSMIC |
| 1 | g.152309195_152309196delinsGT | CA2479950144 | FLG | c.5690_5691delinsAC (p.His1897=)
| |
| 1 | g.152309196del | CA526662226 | FLG | c.5690del (p.His1897ProfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309196T>A | CA342062000 | FLG | c.5690A>T (p.His1897Leu)
| |
| 1 | g.152309196T>C | CA342062006 | FLG | c.5690A>G (p.His1897Arg)
| gnomAD v4 |
| 1 | g.152309196T>G | CA342062008 | FLG | c.5690A>C (p.His1897Pro)
| |
| 1 | g.152309197G>A | CA1105644 | FLG | c.5689C>T (p.His1897Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152309197G>C | CA342062016 | FLG | c.5689C>G (p.His1897Asp)
| |
| 1 | g.152309197G= | CA2479950146 | FLG | c.5689C= (p.His1897=)
| |
| 1 | g.152309197G>T | CA342062013 | FLG | c.5689C>A (p.His1897Asn)
| dbSNP gnomAD v2 |
| 1 | g.152309198T>A | CA342062025 | FLG | c.5688A>T (p.Arg1896Ser)
| |
| 1 | g.152309198T>C | CA420929400 | FLG | c.5688A>G (p.Arg1896=)
| |
| 1 | g.152309198T>G | CA342062028 | FLG | c.5688A>C (p.Arg1896Ser)
| |
| 1 | g.152309199C>A | CA342062036 | FLG | c.5687G>T (p.Arg1896Ile)
| |
| 1 | g.152309199C= | CA2479950147 | FLG | c.5687G= (p.Arg1896=)
| |
| 1 | g.152309199C>G | CA342062040 | FLG | c.5687G>C (p.Arg1896Thr)
| dbSNP |
| 1 | g.152309199C>T | CA342062045 | FLG | c.5687G>A (p.Arg1896Lys)
| dbSNP gnomAD v4 |
| 1 | g.152309200T>A | CA342062054 | FLG | c.5686A>T (p.Arg1896Ter)
| |
| 1 | g.152309200T>C | CA342062065 | FLG | c.5686A>G (p.Arg1896Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309200T>G | CA420929401 | FLG | c.5686A>C (p.Arg1896=)
| |
| 1 | g.152309200T= | CA2479950148 | FLG | c.5686A= (p.Arg1896=)
| |
| 1 | g.152309201A= | CA2479950149 | FLG | c.5685T= (p.Ser1895=)
| |
| 1 | g.152309201A>C | CA420929402 | FLG | c.5685T>G (p.Ser1895=)
| |
| 1 | g.152309201A>G | CA1105645 | FLG | c.5685T>C (p.Ser1895=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152309201A>T | CA420929403 | FLG | c.5685T>A (p.Ser1895=)
| dbSNP |
| 1 | g.152309202G>A | CA342062075 | FLG | c.5684C>T (p.Ser1895Phe)
| dbSNP |
| 1 | g.152309202G>C | CA342062080 | FLG | c.5684C>G (p.Ser1895Cys)
| gnomAD v4 |
| 1 | g.152309202G= | CA2479950150 | FLG | c.5684C= (p.Ser1895=)
| |
| 1 | g.152309202G>T | CA342062084 | FLG | c.5684C>A (p.Ser1895Tyr)
| |
| 1 | g.152309203A= | CA2479950151 | FLG | c.5683T= (p.Ser1895=)
| |
| 1 | g.152309203A>C | CA342062090 | FLG | c.5683T>G (p.Ser1895Ala)
| gnomAD v4 |
| 1 | g.152309203A>G | CA342062093 | FLG | c.5683T>C (p.Ser1895Pro)
| dbSNP gnomAD v4 |
| 1 | g.152309203A>T | CA342062096 | FLG | c.5683T>A (p.Ser1895Thr)
| |
| 1 | g.152309204G>A | CA1105646 | FLG | c.5682C>T (p.Ser1894=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152309204G>C | CA342062107 | FLG | c.5682C>G (p.Ser1894Arg)
| |
| 1 | g.152309204G= | CA2479950152 | FLG | c.5682C= (p.Ser1894=)
| |
| 1 | g.152309204G>T | CA342062103 | FLG | c.5682C>A (p.Ser1894Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152309205C>A | CA342062112 | FLG | c.5681G>T (p.Ser1894Ile)
| dbSNP gnomAD v4 |
| 1 | g.152309205C= | CA2479950153 | FLG | c.5681G= (p.Ser1894=)
| |
| 1 | g.152309205C>G | CA342062115 | FLG | c.5681G>C (p.Ser1894Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152309205C>T | CA342062118 | FLG | c.5681G>A (p.Ser1894Asn)
| gnomAD v4 |
| 1 | g.152309206T>A | CA342062123 | FLG | c.5680A>T (p.Ser1894Cys)
| |
| 1 | g.152309206T>C | CA342062131 | FLG | c.5680A>G (p.Ser1894Gly)
| |
| 1 | g.152309206T>G | CA342062133 | FLG | c.5680A>C (p.Ser1894Arg)
| |
| 1 | g.152309207G>A | CA420929404 | FLG | c.5679C>T (p.Asp1893=)
| |
| 1 | g.152309207G>C | CA342062134 | FLG | c.5679C>G (p.Asp1893Glu)
| |
| 1 | g.152309207G>T | CA342062135 | FLG | c.5679C>A (p.Asp1893Glu)
| |
| 1 | g.152309208T>A | CA342062137 | FLG | c.5678A>T (p.Asp1893Val)
| |
| 1 | g.152309208T>C | CA342062141 | FLG | c.5678A>G (p.Asp1893Gly)
| gnomAD v3 gnomAD v4 |
| 1 | g.152309208T>G | CA342062144 | FLG | c.5678A>C (p.Asp1893Ala)
| |
| 1 | g.152309209C>A | CA342062156 | FLG | c.5677G>T (p.Asp1893Tyr)
| |
| 1 | g.152309209C= | CA2479950154 | FLG | c.5677G= (p.Asp1893=)
| |
| 1 | g.152309209C>G | CA342062153 | FLG | c.5677G>C (p.Asp1893His)
| gnomAD v4 |
| 1 | g.152309209C>T | CA1105647 | FLG | c.5677G>A (p.Asp1893Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152309210G>A | CA1105649 | FLG | c.5676C>T (p.Ala1892=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152309210G>C | CA1105648 | FLG | c.5676C>G (p.Ala1892=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309210G= | CA1143765728 | FLG | c.5676C= (p.Ala1892=)
| |
| 1 | g.152309210G>T | CA420929405 | FLG | c.5676C>A (p.Ala1892=)
| |
| 1 | g.152309211G>A | CA342062166 | FLG | c.5675C>T (p.Ala1892Val)
| gnomAD v4 |
| 1 | g.152309211G>C | CA1105651 | FLG | c.5675C>G (p.Ala1892Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309211G= | CA2479950155 | FLG | c.5675C= (p.Ala1892=)
| |
| 1 | g.152309211G>T | CA1105650 | FLG | c.5675C>A (p.Ala1892Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309212C>A | CA342062177 | FLG | c.5674G>T (p.Ala1892Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152309212C= | CA1144067250 | FLG | c.5674G= (p.Ala1892=)
| |
| 1 | g.152309212C>G | CA1105652 | FLG | c.5674G>C (p.Ala1892Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152309212C>T | CA1105653 | FLG | c.5674G>A (p.Ala1892Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309213C>A | CA30552001 | FLG | c.5673G>T (p.Arg1891=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309213C= | CA1143542555 | FLG | c.5673G= (p.Arg1891=)
| |
| 1 | g.152309213C>G | CA420929406 | FLG | c.5673G>C (p.Arg1891=)
| |
| 1 | g.152309213C>T | CA420929407 | FLG | c.5673G>A (p.Arg1891=)
| |
| 1 | g.152309214C>A | CA342062191 | FLG | c.5672G>T (p.Arg1891Leu)
| |
| 1 | g.152309214C= | CA1140397063 | FLG | c.5672G= (p.Arg1891=)
| |
| 1 | g.152309214C>G | CA342062195 | FLG | c.5672G>C (p.Arg1891Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152309214C>T | CA1105654 | FLG | c.5672G>A (p.Arg1891Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309214_152309215delinsTA | CA2586967289 | FLG | c.5671_5672delinsTA (p.Arg1891Ter)
| |
| 1 | g.152309215G>A | CA1105655 | FLG | c.5671C>T (p.Arg1891Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309215G>C | CA342062205 | FLG | c.5671C>G (p.Arg1891Gly)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152309215G= | CA1140601389 | FLG | c.5671C= (p.Arg1891=)
| |
| 1 | g.152309215G>T | CA1105656 | FLG | c.5671C>A (p.Arg1891=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309216A>C | CA420929408 | FLG | c.5670T>G (p.Ser1890=)
| gnomAD v4 |
| 1 | g.152309216A>G | CA420929409 | FLG | c.5670T>C (p.Ser1890=)
| |
| 1 | g.152309216A>T | CA420929410 | FLG | c.5670T>A (p.Ser1890=)
| |
| 1 | g.152309217G>A | CA1105657 | FLG | c.5669C>T (p.Ser1890Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152309217G>C | CA342062209 | FLG | c.5669C>G (p.Ser1890Cys)
| |
| 1 | g.152309217G= | CA2479950156 | FLG | c.5669C= (p.Ser1890=)
| |
| 1 | g.152309217G>T | CA342062212 | FLG | c.5669C>A (p.Ser1890Tyr)
| |
| 1 | g.152309218A= | CA2479950157 | FLG | c.5668T= (p.Ser1890=)
| |
| 1 | g.152309218A>C | CA342062224 | FLG | c.5668T>G (p.Ser1890Ala)
| gnomAD v4 |
| 1 | g.152309218A>G | CA342062228 | FLG | c.5668T>C (p.Ser1890Pro)
| gnomAD v4 |
| 1 | g.152309218A>T | CA342062230 | FLG | c.5668T>A (p.Ser1890Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152309219G>A | CA420929411 | FLG | c.5667C>T (p.Ser1889=)
| dbSNP gnomAD v4 |
| 1 | g.152309219G>C | CA420929412 | FLG | c.5667C>G (p.Ser1889=)
| gnomAD v4 |
| 1 | g.152309219G= | CA2479950158 | FLG | c.5667C= (p.Ser1889=)
| |
| 1 | g.152309219G>T | CA420929413 | FLG | c.5667C>A (p.Ser1889=)
| gnomAD v4 |
| 1 | g.152309220G>A | CA342062235 | FLG | c.5666C>T (p.Ser1889Phe)
| COSMIC |
| 1 | g.152309220G>C | CA342062240 | FLG | c.5666C>G (p.Ser1889Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152309220G= | CA2479950159 | FLG | c.5666C= (p.Ser1889=)
| |
| 1 | g.152309220G>T | CA30552019 | FLG | c.5666C>A (p.Ser1889Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309221A= | CA2479950160 | FLG | c.5665T= (p.Ser1889=)
| |
| 1 | g.152309221A>C | CA342062246 | FLG | c.5665T>G (p.Ser1889Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152309221A>G | CA342062250 | FLG | c.5665T>C (p.Ser1889Pro)
| gnomAD v4 |
| 1 | g.152309221A>T | CA1105658 | FLG | c.5665T>A (p.Ser1889Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309222A>C | CA420929414 | FLG | c.5664T>G (p.Ala1888=)
| |
| 1 | g.152309222A>G | CA420929415 | FLG | c.5664T>C (p.Ala1888=)
| |
| 1 | g.152309222A>T | CA420929416 | FLG | c.5664T>A (p.Ala1888=)
| |
| 1 | g.152309223G>A | CA342062251 | FLG | c.5663C>T (p.Ala1888Val)
| dbSNP |
| 1 | g.152309223G>C | CA342062255 | FLG | c.5663C>G (p.Ala1888Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152309223G= | CA2479950161 | FLG | c.5663C= (p.Ala1888=)
| |
| 1 | g.152309223G>T | CA342062261 | FLG | c.5663C>A (p.Ala1888Asp)
| gnomAD v4 |
| 1 | g.152309224C>A | CA342062269 | FLG | c.5662G>T (p.Ala1888Ser)
| |
| 1 | g.152309224C= | CA1146828925 | FLG | c.5662G= (p.Ala1888=)
| |
| 1 | g.152309224C>G | CA1105659 | FLG | c.5662G>C (p.Ala1888Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152309224C>T | CA342062265 | FLG | c.5662G>A (p.Ala1888Thr)
| dbSNP gnomAD v3 gnomAD v4 |
