| 1 | g.152310000C>A | CA342070919 | FLG | c.4886G>T (p.Gly1629Val)
| |
| 1 | g.152310000C>G | CA342070922 | FLG | c.4886G>C (p.Gly1629Ala)
| gnomAD v4 |
| 1 | g.152310000C>T | CA342070917 | FLG | c.4886G>A (p.Gly1629Asp)
| gnomAD v4 |
| 1 | g.152310001C>A | CA342070926 | FLG | c.4885G>T (p.Gly1629Cys)
| |
| 1 | g.152310001C>G | CA342070939 | FLG | c.4885G>C (p.Gly1629Arg)
| |
| 1 | g.152310001C>T | CA342070935 | FLG | c.4885G>A (p.Gly1629Ser)
| COSMIC |
| 1 | g.152310002A= | CA1148897814 | FLG | c.4884T= (p.His1628=)
| |
| 1 | g.152310002A>C | CA342070942 | FLG | c.4884T>G (p.His1628Gln)
| |
| 1 | g.152310002A>G | CA1106018 | FLG | c.4884T>C (p.His1628=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310002A>T | CA342070946 | FLG | c.4884T>A (p.His1628Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310003T>A | CA342070948 | FLG | c.4883A>T (p.His1628Leu)
| |
| 1 | g.152310003T>C | CA342070950 | FLG | c.4883A>G (p.His1628Arg)
| |
| 1 | g.152310003T>G | CA342070951 | FLG | c.4883A>C (p.His1628Pro)
| |
| 1 | g.152310004G>A | CA342070952 | FLG | c.4882C>T (p.His1628Tyr)
| gnomAD v4 |
| 1 | g.152310004G>C | CA1106019 | FLG | c.4882C>G (p.His1628Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310004G= | CA2479950625 | FLG | c.4882C= (p.His1628=)
| |
| 1 | g.152310004G>T | CA342070958 | FLG | c.4882C>A (p.His1628Asn)
| |
| 1 | g.152310005T>A | CA342070962 | FLG | c.4881A>T (p.Arg1627Ser)
| dbSNP |
| 1 | g.152310005T>C | CA420930083 | FLG | c.4881A>G (p.Arg1627=)
| |
| 1 | g.152310005T>G | CA342070973 | FLG | c.4881A>C (p.Arg1627Ser)
| |
| 1 | g.152310005T= | CA2479950627 | FLG | c.4881A= (p.Arg1627=)
| |
| 1 | g.152310005_152310006delinsTC | CA2479950626 | FLG | c.4880_4881delinsGA (p.Arg1627=)
| |
| 1 | g.152310006del | CA889401806 | FLG | c.4880del (p.Arg1627AsnfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310006C>A | CA342070978 | FLG | c.4880G>T (p.Arg1627Ile)
| |
| 1 | g.152310006C= | CA2479950628 | FLG | c.4880G= (p.Arg1627=)
| |
| 1 | g.152310006C>G | CA342070980 | FLG | c.4880G>C (p.Arg1627Thr)
| gnomAD v4 |
| 1 | g.152310006C>T | CA342070982 | FLG | c.4880G>A (p.Arg1627Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310007T>A | CA342070986 | FLG | c.4879A>T (p.Arg1627Ter)
| |
| 1 | g.152310007T>C | CA342070987 | FLG | c.4879A>G (p.Arg1627Gly)
| dbSNP gnomAD v2 COSMIC |
| 1 | g.152310007T>G | CA420930091 | FLG | c.4879A>C (p.Arg1627=)
| |
| 1 | g.152310007T= | CA2479950629 | FLG | c.4879A= (p.Arg1627=)
| |
| 1 | g.152310008T>A | CA420930095 | FLG | c.4878A>T (p.Ser1626=)
| |
| 1 | g.152310008T>C | CA420930096 | FLG | c.4878A>G (p.Ser1626=)
| |
| 1 | g.152310008T>G | CA1106020 | FLG | c.4878A>C (p.Ser1626=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310008T= | CA2479950630 | FLG | c.4878A= (p.Ser1626=)
| |
| 1 | g.152310009G>A | CA342070991 | FLG | c.4877C>T (p.Ser1626Leu)
| |
| 1 | g.152310009G>C | CA342070994 | FLG | c.4877C>G (p.Ser1626Ter)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.152310009G= | CA2479950631 | FLG | c.4877C= (p.Ser1626=)
| |
| 1 | g.152310009G>T | CA342070998 | FLG | c.4877C>A (p.Ser1626Ter)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310010A= | CA2479950632 | FLG | c.4876T= (p.Ser1626=)
| |
| 1 | g.152310010A>C | CA342070999 | FLG | c.4876T>G (p.Ser1626Ala)
| |
| 1 | g.152310010A>G | CA342071000 | FLG | c.4876T>C (p.Ser1626Pro)
| dbSNP gnomAD v4 |
| 1 | g.152310010A>T | CA342071001 | FLG | c.4876T>A (p.Ser1626Thr)
| |
| 1 | g.152310011C>A | CA342071003 | FLG | c.4875G>T (p.Gln1625His)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310011C= | CA2479950633 | FLG | c.4875G= (p.Gln1625=)
| |
| 1 | g.152310011C>G | CA342071005 | FLG | c.4875G>C (p.Gln1625His)
| gnomAD v4 |
| 1 | g.152310011C>T | CA420930104 | FLG | c.4875G>A (p.Gln1625=)
| gnomAD v4 |
| 1 | g.152310012T>A | CA342071007 | FLG | c.4874A>T (p.Gln1625Leu)
| |
| 1 | g.152310012T>C | CA342071011 | FLG | c.4874A>G (p.Gln1625Arg)
| |
| 1 | g.152310012T>G | CA342071013 | FLG | c.4874A>C (p.Gln1625Pro)
| |
| 1 | g.152310013G>A | CA342071019 | FLG | c.4873C>T (p.Gln1625Ter)
| COSMIC |
| 1 | g.152310013G>C | CA342071031 | FLG | c.4873C>G (p.Gln1625Glu)
| |
| 1 | g.152310013G>T | CA342071021 | FLG | c.4873C>A (p.Gln1625Lys)
| gnomAD v4 |
| 1 | g.152310014C>A | CA342071033 | FLG | c.4872G>T (p.Glu1624Asp)
| |
| 1 | g.152310014C= | CA1149109435 | FLG | c.4872G= (p.Glu1624=)
| |
| 1 | g.152310014C>G | CA342071044 | FLG | c.4872G>C (p.Glu1624Asp)
| |
| 1 | g.152310014C>T | CA1106021 | FLG | c.4872G>A (p.Glu1624=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310015T>A | CA342071050 | FLG | c.4871A>T (p.Glu1624Val)
| |
| 1 | g.152310015T>C | CA342071051 | FLG | c.4871A>G (p.Glu1624Gly)
| |
| 1 | g.152310015T>G | CA342071057 | FLG | c.4871A>C (p.Glu1624Ala)
| |
| 1 | g.152310016C>A | CA342071059 | FLG | c.4870G>T (p.Glu1624Ter)
| |
| 1 | g.152310016C= | CA2479950634 | FLG | c.4870G= (p.Glu1624=)
| |
| 1 | g.152310016C>G | CA1106022 | FLG | c.4870G>C (p.Glu1624Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310016C>T | CA342071061 | FLG | c.4870G>A (p.Glu1624Lys)
| gnomAD v4 |
| 1 | g.152310017C>A | CA420929669 | FLG | c.4869G>T (p.Arg1623=)
| |
| 1 | g.152310017C= | CA2479950635 | FLG | c.4869G= (p.Arg1623=)
| |
| 1 | g.152310017C>G | CA420929668 | FLG | c.4869G>C (p.Arg1623=)
| dbSNP |
| 1 | g.152310017C>T | CA420929667 | FLG | c.4869G>A (p.Arg1623=)
| |
| 1 | g.152310018C>A | CA342071062 | FLG | c.4868G>T (p.Arg1623Leu)
| dbSNP |
| 1 | g.152310018C= | CA1143467176 | FLG | c.4868G= (p.Arg1623=)
| |
| 1 | g.152310018C>G | CA342071064 | FLG | c.4868G>C (p.Arg1623Pro)
| gnomAD v4 |
| 1 | g.152310018C>T | CA1106023 | FLG | c.4868G>A (p.Arg1623Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310019G>A | CA1106024 | FLG | c.4867C>T (p.Arg1623Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310019G>C | CA1106025 | FLG | c.4867C>G (p.Arg1623Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310019G= | CA1141119456 | FLG | c.4867C= (p.Arg1623=)
| |
| 1 | g.152310019G>T | CA1106026 | FLG | c.4867C>A (p.Arg1623=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310020A= | CA2479950636 | FLG | c.4866T= (p.Ala1622=)
| |
| 1 | g.152310020A>C | CA420929670 | FLG | c.4866T>G (p.Ala1622=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310020A>G | CA420929672 | FLG | c.4866T>C (p.Ala1622=)
| |
| 1 | g.152310020A>T | CA420929671 | FLG | c.4866T>A (p.Ala1622=)
| |
| 1 | g.152310021G>A | CA342071077 | FLG | c.4865C>T (p.Ala1622Val)
| gnomAD v4 |
| 1 | g.152310021G>C | CA342071079 | FLG | c.4865C>G (p.Ala1622Gly)
| |
| 1 | g.152310021G>T | CA342071081 | FLG | c.4865C>A (p.Ala1622Asp)
| |
| 1 | g.152310022C>A | CA342071082 | FLG | c.4864G>T (p.Ala1622Ser)
| |
| 1 | g.152310022C= | CA2479950637 | FLG | c.4864G= (p.Ala1622=)
| |
| 1 | g.152310022C>G | CA1106027 | FLG | c.4864G>C (p.Ala1622Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310022C>T | CA342071088 | FLG | c.4864G>A (p.Ala1622Thr)
| dbSNP gnomAD v4 |
| 1 | g.152310023A= | CA2479950638 | FLG | c.4863T= (p.Ser1621=)
| |
| 1 | g.152310023A>C | CA1106028 | FLG | c.4863T>G (p.Ser1621=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310023A>G | CA420929673 | FLG | c.4863T>C (p.Ser1621=)
| gnomAD v4 |
| 1 | g.152310023A>T | CA420929674 | FLG | c.4863T>A (p.Ser1621=)
| |
| 1 | g.152310024G>A | CA342071092 | FLG | c.4862C>T (p.Ser1621Phe)
| COSMIC |
| 1 | g.152310024G>C | CA342071093 | FLG | c.4862C>G (p.Ser1621Cys)
| |
| 1 | g.152310024G= | CA1142728845 | FLG | c.4862C= (p.Ser1621=)
| |
| 1 | g.152310024G>T | CA1106029 | FLG | c.4862C>A (p.Ser1621Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310025A>C | CA342071103 | FLG | c.4861T>G (p.Ser1621Ala)
| |
| 1 | g.152310025A>G | CA342071111 | FLG | c.4861T>C (p.Ser1621Pro)
| gnomAD v4 |
| 1 | g.152310025A>T | CA342071095 | FLG | c.4861T>A (p.Ser1621Thr)
| gnomAD v4 |
| 1 | g.152310026T>A | CA420929675 | FLG | c.4860A>T (p.Gly1620=)
| |
| 1 | g.152310026T>C | CA420929676 | FLG | c.4860A>G (p.Gly1620=)
| |
| 1 | g.152310026T>G | CA420929677 | FLG | c.4860A>C (p.Gly1620=)
| |
| 1 | g.152310027C>A | CA342071116 | FLG | c.4859G>T (p.Gly1620Val)
| |
| 1 | g.152310027C= | CA2479950639 | FLG | c.4859G= (p.Gly1620=)
| |
| 1 | g.152310027C>G | CA1106030 | FLG | c.4859G>C (p.Gly1620Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310027C>T | CA1106031 | FLG | c.4859G>A (p.Gly1620Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310028C>A | CA342071121 | FLG | c.4858G>T (p.Gly1620Ter)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310028C= | CA2479950640 | FLG | c.4858G= (p.Gly1620=)
| |
| 1 | g.152310028C>G | CA342071124 | FLG | c.4858G>C (p.Gly1620Arg)
| |
| 1 | g.152310028C>T | CA342071127 | FLG | c.4858G>A (p.Gly1620Arg)
| gnomAD v4 |
| 1 | g.152310029A= | CA2479950641 | FLG | c.4857T= (p.Tyr1619=)
| |
| 1 | g.152310029A>C | CA342071129 | FLG | c.4857T>G (p.Tyr1619Ter)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310029A>G | CA420929678 | FLG | c.4857T>C (p.Tyr1619=)
| |
| 1 | g.152310029A>T | CA342071131 | FLG | c.4857T>A (p.Tyr1619Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310030T>A | CA1106032 | FLG | c.4856A>T (p.Tyr1619Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310030T>C | CA342071136 | FLG | c.4856A>G (p.Tyr1619Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310030T>G | CA342071138 | FLG | c.4856A>C (p.Tyr1619Ser)
| |
| 1 | g.152310030T= | CA2479950642 | FLG | c.4856A= (p.Tyr1619=)
| |
| 1 | g.152310031A= | CA2479950643 | FLG | c.4855T= (p.Tyr1619=)
| |
| 1 | g.152310031A>C | CA342071140 | FLG | c.4855T>G (p.Tyr1619Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310031A>G | CA342071143 | FLG | c.4855T>C (p.Tyr1619His)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310031A>T | CA342071144 | FLG | c.4855T>A (p.Tyr1619Asn)
| |
| 1 | g.152310032A= | CA2479950644 | FLG | c.4854T= (p.His1618=)
| |
| 1 | g.152310032A>C | CA342071146 | FLG | c.4854T>G (p.His1618Gln)
| |
| 1 | g.152310032A>G | CA420929679 | FLG | c.4854T>C (p.His1618=)
| dbSNP gnomAD v4 |
| 1 | g.152310032A>T | CA342071145 | FLG | c.4854T>A (p.His1618Gln)
| |
| 1 | g.152310033T>A | CA342071148 | FLG | c.4853A>T (p.His1618Leu)
| dbSNP gnomAD v4 |
| 1 | g.152310033T>C | CA1106033 | FLG | c.4853A>G (p.His1618Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310033T>G | CA342071151 | FLG | c.4853A>C (p.His1618Pro)
| |
| 1 | g.152310033T= | CA2479950645 | FLG | c.4853A= (p.His1618=)
| |
| 1 | g.152310034G>A | CA342071155 | FLG | c.4852C>T (p.His1618Tyr)
| |
| 1 | g.152310034G>C | CA342071161 | FLG | c.4852C>G (p.His1618Asp)
| |
| 1 | g.152310034G= | CA1143947553 | FLG | c.4852C= (p.His1618=)
| |
| 1 | g.152310034G>T | CA1106034 | FLG | c.4852C>A (p.His1618Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310035G>A | CA420929680 | FLG | c.4851C>T (p.Asn1617=)
| dbSNP |
| 1 | g.152310035G>C | CA1106035 | FLG | c.4851C>G (p.Asn1617Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310035G= | CA1141832523 | FLG | c.4851C= (p.Asn1617=)
| |
| 1 | g.152310035G>T | CA342071166 | FLG | c.4851C>A (p.Asn1617Lys)
| |
| 1 | g.152310036T>A | CA342071170 | FLG | c.4850A>T (p.Asn1617Ile)
| |
| 1 | g.152310036T>C | CA342071171 | FLG | c.4850A>G (p.Asn1617Ser)
| gnomAD v4 |
| 1 | g.152310036T>G | CA342071175 | FLG | c.4850A>C (p.Asn1617Thr)
| |
| 1 | g.152310037T>A | CA342071179 | FLG | c.4849A>T (p.Asn1617Tyr)
| |
| 1 | g.152310037T>C | CA342071182 | FLG | c.4849A>G (p.Asn1617Asp)
| |
| 1 | g.152310037T>G | CA342071188 | FLG | c.4849A>C (p.Asn1617His)
| |
| 1 | g.152310037T= | CA2479950646 | FLG | c.4849A= (p.Asn1617=)
| |
| 1 | g.152310038T>A | CA342071194 | FLG | c.4848A>T (p.Arg1616Ser)
| |
| 1 | g.152310038T>C | CA420929681 | FLG | c.4848A>G (p.Arg1616=)
| |
| 1 | g.152310038T>G | CA342071196 | FLG | c.4848A>C (p.Arg1616Ser)
| |
| 1 | g.152310039_152310040dup | CA1007765492 | FLG | c.4847_4848dup (p.Asn1617GlufsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310039C>A | CA342071200 | FLG | c.4847G>T (p.Arg1616Ile)
| |
| 1 | g.152310039C>G | CA342071203 | FLG | c.4847G>C (p.Arg1616Thr)
| |
| 1 | g.152310039C>T | CA342071211 | FLG | c.4847G>A (p.Arg1616Lys)
| |
| 1 | g.152310040T>A | CA342071216 | FLG | c.4846A>T (p.Arg1616Ter)
| |
| 1 | g.152310040T>C | CA342071221 | FLG | c.4846A>G (p.Arg1616Gly)
| gnomAD v4 |
| 1 | g.152310040T>G | CA420929682 | FLG | c.4846A>C (p.Arg1616=)
| |
| 1 | g.152310041G>A | CA420929683 | FLG | c.4845C>T (p.Ser1615=)
| |
| 1 | g.152310041G>C | CA420929685 | FLG | c.4845C>G (p.Ser1615=)
| |
| 1 | g.152310041G>T | CA420929684 | FLG | c.4845C>A (p.Ser1615=)
| |
| 1 | g.152310042G>A | CA342071241 | FLG | c.4844C>T (p.Ser1615Phe)
| gnomAD v4 |
| 1 | g.152310042G>C | CA342071238 | FLG | c.4844C>G (p.Ser1615Cys)
| |
| 1 | g.152310042G>T | CA342071227 | FLG | c.4844C>A (p.Ser1615Tyr)
| gnomAD v4 |
| 1 | g.152310043A>C | CA342071247 | FLG | c.4843T>G (p.Ser1615Ala)
| |
| 1 | g.152310043A>G | CA342071250 | FLG | c.4843T>C (p.Ser1615Pro)
| |
| 1 | g.152310043A>T | CA342071255 | FLG | c.4843T>A (p.Ser1615Thr)
| |
| 1 | g.152310044A>C | CA420929686 | FLG | c.4842T>G (p.Ala1614=)
| |
| 1 | g.152310044A>G | CA420929687 | FLG | c.4842T>C (p.Ala1614=)
| |
| 1 | g.152310044A>T | CA420929688 | FLG | c.4842T>A (p.Ala1614=)
| |
| 1 | g.152310045G>A | CA342071259 | FLG | c.4841C>T (p.Ala1614Val)
| gnomAD v4 |
| 1 | g.152310045G>C | CA342071263 | FLG | c.4841C>G (p.Ala1614Gly)
| |
| 1 | g.152310045G>T | CA342071264 | FLG | c.4841C>A (p.Ala1614Asp)
| |
| 1 | g.152310046C>A | CA342071265 | FLG | c.4840G>T (p.Ala1614Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310046C= | CA2479950647 | FLG | c.4840G= (p.Ala1614=)
| |
| 1 | g.152310046C>G | CA342071270 | FLG | c.4840G>C (p.Ala1614Pro)
| |
| 1 | g.152310046C>T | CA342071268 | FLG | c.4840G>A (p.Ala1614Thr)
| gnomAD v4 COSMIC |
| 1 | g.152310047C>A | CA420929689 | FLG | c.4839G>T (p.Ser1613=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310047C= | CA2479950648 | FLG | c.4839G= (p.Ser1613=)
| |
| 1 | g.152310047C>G | CA1106036 | FLG | c.4839G>C (p.Ser1613=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310047C>T | CA30554001 | FLG | c.4839G>A (p.Ser1613=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310047_152310048del | CA913067320 | FLG | c.4838_4839del (p.Ser1613CysfsTer27)
| |
| 1 | g.152310047_152310048insATGATGGTTTCTGGAAGCA | CA916310966 | FLG | c.4838_4839insTGCTTCCAGAAACCATCAT (p.Tyr1619HisfsTer28)
| dbSNP |
| 1 | g.152310048G>A | CA342071279 | FLG | c.4838C>T (p.Ser1613Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310048G>C | CA342071282 | FLG | c.4838C>G (p.Ser1613Trp)
| |
| 1 | g.152310048G= | CA2479950649 | FLG | c.4838C= (p.Ser1613=)
| |
| 1 | g.152310048G>T | CA342071285 | FLG | c.4838C>A (p.Ser1613Ter)
| |
| 1 | g.152310049A= | CA2479950650 | FLG | c.4837T= (p.Ser1613=)
| |
| 1 | g.152310049A>C | CA342071292 | FLG | c.4837T>G (p.Ser1613Ala)
| |
| 1 | g.152310049A>G | CA342071296 | FLG | c.4837T>C (p.Ser1613Pro)
| gnomAD v4 |
| 1 | g.152310049A>T | CA1106037 | FLG | c.4837T>A (p.Ser1613Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310050C>A | CA342071305 | FLG | c.4836G>T (p.Glu1612Asp)
| |
| 1 | g.152310050C= | CA2479950651 | FLG | c.4836G= (p.Glu1612=)
| |
| 1 | g.152310050C>G | CA342071308 | FLG | c.4836G>C (p.Glu1612Asp)
| |
| 1 | g.152310050C>T | CA420929690 | FLG | c.4836G>A (p.Glu1612=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310051T>A | CA342071311 | FLG | c.4835A>T (p.Glu1612Val)
| |
| 1 | g.152310051T>C | CA342071314 | FLG | c.4835A>G (p.Glu1612Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310051T>G | CA342071318 | FLG | c.4835A>C (p.Glu1612Ala)
| |
| 1 | g.152310051T= | CA2479950652 | FLG | c.4835A= (p.Glu1612=)
| |
| 1 | g.152310052C>A | CA342071333 | FLG | c.4834G>T (p.Glu1612Ter)
| |
| 1 | g.152310052C= | CA2479950653 | FLG | c.4834G= (p.Glu1612=)
| |
| 1 | g.152310052C>G | CA342071328 | FLG | c.4834G>C (p.Glu1612Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310052C>T | CA342071323 | FLG | c.4834G>A (p.Glu1612Lys)
| gnomAD v4 |
| 1 | g.152310053A= | CA1149113058 | FLG | c.4833T= (p.Ser1611=)
| |
| 1 | g.152310053A>C | CA420929691 | FLG | c.4833T>G (p.Ser1611=)
| |
| 1 | g.152310053A>G | CA420929692 | FLG | c.4833T>C (p.Ser1611=)
| |
| 1 | g.152310053A>T | CA1106038 | FLG | c.4833T>A (p.Ser1611=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310054G>A | CA342071342 | FLG | c.4832C>T (p.Ser1611Phe)
| |
| 1 | g.152310054G>C | CA342071352 | FLG | c.4832C>G (p.Ser1611Cys)
| dbSNP |
| 1 | g.152310054G= | CA2479950654 | FLG | c.4832C= (p.Ser1611=)
| |
| 1 | g.152310054G>T | CA342071345 | FLG | c.4832C>A (p.Ser1611Tyr)
| |
| 1 | g.152310055A= | CA2479950655 | FLG | c.4831T= (p.Ser1611=)
| |
| 1 | g.152310055A>C | CA342071356 | FLG | c.4831T>G (p.Ser1611Ala)
| dbSNP |
| 1 | g.152310055A>G | CA342071358 | FLG | c.4831T>C (p.Ser1611Pro)
| |
| 1 | g.152310055A>T | CA342071357 | FLG | c.4831T>A (p.Ser1611Thr)
| gnomAD v4 |
| 1 | g.152310056C>A | CA420929693 | FLG | c.4830G>T (p.Arg1610=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310056C= | CA2479950656 | FLG | c.4830G= (p.Arg1610=)
| |
| 1 | g.152310056C>G | CA420929694 | FLG | c.4830G>C (p.Arg1610=)
| gnomAD v4 |
| 1 | g.152310056C>T | CA1106039 | FLG | c.4830G>A (p.Arg1610=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310057C>A | CA342071366 | FLG | c.4829G>T (p.Arg1610Leu)
| dbSNP gnomAD v4 COSMIC |
| 1 | g.152310057C= | CA1142225556 | FLG | c.4829G= (p.Arg1610=)
| |
| 1 | g.152310057C>G | CA342071363 | FLG | c.4829G>C (p.Arg1610Pro)
| |
| 1 | g.152310057C>T | CA1106040 | FLG | c.4829G>A (p.Arg1610Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310058G>A | CA1106041 | FLG | c.4828C>T (p.Arg1610Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310058G>C | CA342071369 | FLG | c.4828C>G (p.Arg1610Gly)
| |
| 1 | g.152310058G= | CA1146791152 | FLG | c.4828C= (p.Arg1610=)
| |
| 1 | g.152310058G>T | CA1106042 | FLG | c.4828C>A (p.Arg1610=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310059C>A | CA342071373 | FLG | c.4827G>T (p.Arg1609Ser)
| |
| 1 | g.152310059C= | CA2479950657 | FLG | c.4827G= (p.Arg1609=)
| |
| 1 | g.152310059C>G | CA342071377 | FLG | c.4827G>C (p.Arg1609Ser)
| |
| 1 | g.152310059C>T | CA1106043 | FLG | c.4827G>A (p.Arg1609=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310060C>A | CA342071385 | FLG | c.4826G>T (p.Arg1609Met)
| |
| 1 | g.152310060C= | CA2479950658 | FLG | c.4826G= (p.Arg1609=)
| |
| 1 | g.152310060C>G | CA342071388 | FLG | c.4826G>C (p.Arg1609Thr)
| dbSNP gnomAD v4 |
| 1 | g.152310060C>T | CA342071391 | FLG | c.4826G>A (p.Arg1609Lys)
| |
| 1 | g.152310061T>A | CA342071395 | FLG | c.4825A>T (p.Arg1609Trp)
| |
| 1 | g.152310061T>C | CA342071403 | FLG | c.4825A>G (p.Arg1609Gly)
| gnomAD v4 |
| 1 | g.152310061T>G | CA420929695 | FLG | c.4825A>C (p.Arg1609=)
| |
| 1 | g.152310062C>A | CA342071408 | FLG | c.4824G>T (p.Glu1608Asp)
| gnomAD v4 |
| 1 | g.152310062C>G | CA342071419 | FLG | c.4824G>C (p.Glu1608Asp)
| |
| 1 | g.152310062C>T | CA420929696 | FLG | c.4824G>A (p.Glu1608=)
| gnomAD v4 |
| 1 | g.152310063T>A | CA342071425 | FLG | c.4823A>T (p.Glu1608Val)
| |
| 1 | g.152310063T>C | CA1106044 | FLG | c.4823A>G (p.Glu1608Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310063T>G | CA342071446 | FLG | c.4823A>C (p.Glu1608Ala)
| |
| 1 | g.152310063T= | CA2479950660 | FLG | c.4823A= (p.Glu1608=)
| |
| 1 | g.152310063_152310065delinsTCA | CA2479950659 | FLG | c.4821_4823delinsTGA (p.Ser1607=)
| |
| 1 | g.152310064C>A | CA342071447 | FLG | c.4822G>T (p.Glu1608Ter)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310064C= | CA2479950661 | FLG | c.4822G= (p.Glu1608=)
| |
| 1 | g.152310064C>G | CA342071450 | FLG | c.4822G>C (p.Glu1608Gln)
| gnomAD v4 |
| 1 | g.152310064C>T | CA342071453 | FLG | c.4822G>A (p.Glu1608Lys)
| |
| 1 | g.152310064_152310065del | CA1106045 | FLG | c.4821_4822del (p.Arg1609AlafsTer3)
| dbSNP ExAC gnomAD v2 |
| 1 | g.152310064_152310066delinsCAG | CA2479950662 | FLG | c.4820_4822delinsCTG (p.Ser1607=)
| |
| 1 | g.152310065A= | CA2479950664 | FLG | c.4821T= (p.Ser1607=)
| |
| 1 | g.152310065A>C | CA420929697 | FLG | c.4821T>G (p.Ser1607=)
| |
| 1 | g.152310065A>G | CA420929698 | FLG | c.4821T>C (p.Ser1607=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310065A>T | CA420929699 | FLG | c.4821T>A (p.Ser1607=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310067_152310068del | CA2479950663 | FLG | c.4820_4821del (p.Ser1607Ter)
| |
| 1 | g.152310066G>A | CA342071456 | FLG | c.4820C>T (p.Ser1607Phe)
| |
| 1 | g.152310066G>C | CA342071460 | FLG | c.4820C>G (p.Ser1607Cys)
| |
| 1 | g.152310066G= | CA1142384513 | FLG | c.4820C= (p.Ser1607=)
| |
| 1 | g.152310066G>T | CA30554050 | FLG | c.4820C>A (p.Ser1607Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310067A= | CA2479950665 | FLG | c.4819T= (p.Ser1607=)
| |
| 1 | g.152310067A>C | CA342071472 | FLG | c.4819T>G (p.Ser1607Ala)
| dbSNP gnomAD v4 |
| 1 | g.152310067A>G | CA342071469 | FLG | c.4819T>C (p.Ser1607Pro)
| |
| 1 | g.152310067A>T | CA342071466 | FLG | c.4819T>A (p.Ser1607Thr)
| |
| 1 | g.152310067dup | CA2830539083 | FLG | c.4819dup (p.Ser1607PhefsTer2)
| |
| 1 | g.152310068G>A | CA420929700 | FLG | c.4818C>T (p.Asp1606=)
| gnomAD v4 |
| 1 | g.152310068G>C | CA342071474 | FLG | c.4818C>G (p.Asp1606Glu)
| |
| 1 | g.152310068G>T | CA342071478 | FLG | c.4818C>A (p.Asp1606Glu)
| |
| 1 | g.152310068_152310069insAC | CA2830539084 | FLG | c.4817_4818insGT (p.Asp1606GlufsTer?)
| |
| 1 | g.152310069T>A | CA342071482 | FLG | c.4817A>T (p.Asp1606Val)
| |
| 1 | g.152310069T>C | CA342071484 | FLG | c.4817A>G (p.Asp1606Gly)
| |
| 1 | g.152310069T>G | CA342071486 | FLG | c.4817A>C (p.Asp1606Ala)
| |
| 1 | g.152310069_152310070delinsTC | CA2479950666 | FLG | c.4816_4817delinsGA (p.Asp1606=)
| |
| 1 | g.152310070del | CA526662236 | FLG | c.4816del (p.Asp1606ThrfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310070C>A | CA342071489 | FLG | c.4816G>T (p.Asp1606Tyr)
| |
| 1 | g.152310070C>G | CA342071491 | FLG | c.4816G>C (p.Asp1606His)
| |
| 1 | g.152310070C>T | CA342071494 | FLG | c.4816G>A (p.Asp1606Asn)
| |
| 1 | g.152310071T>A | CA342071498 | FLG | c.4815A>T (p.Glu1605Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310071T>C | CA1106046 | FLG | c.4815A>G (p.Glu1605=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310071T>G | CA1106047 | FLG | c.4815A>C (p.Glu1605Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310071T= | CA1143558150 | FLG | c.4815A= (p.Glu1605=)
| |
| 1 | g.152310071_152310072insGAGAGGCGG | CA2830539085 | FLG | c.4814_4815insCCGCCTCTC (p.Glu1605delinsAspArgLeuSer)
| |
| 1 | g.152310072T>A | CA342071511 | FLG | c.4814A>T (p.Glu1605Val)
| |
| 1 | g.152310072T>C | CA342071508 | FLG | c.4814A>G (p.Glu1605Gly)
| |
| 1 | g.152310072T>G | CA342071506 | FLG | c.4814A>C (p.Glu1605Ala)
| |
| 1 | g.152310073C>A | CA342071513 | FLG | c.4813G>T (p.Glu1605Ter)
| |
| 1 | g.152310073C= | CA2479950667 | FLG | c.4813G= (p.Glu1605=)
| |
| 1 | g.152310073C>G | CA342071514 | FLG | c.4813G>C (p.Glu1605Gln)
| gnomAD v4 |
| 1 | g.152310073C>T | CA1106049 | FLG | c.4813G>A (p.Glu1605Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310074T>A | CA420929701 | FLG | c.4812A>T (p.Ser1604=)
| |
| 1 | g.152310074T>C | CA420929702 | FLG | c.4812A>G (p.Ser1604=)
| |
| 1 | g.152310074T>G | CA420929703 | FLG | c.4812A>C (p.Ser1604=)
| |
| 1 | g.152310074_152310078dup | CA1106048 | FLG | c.4808_4812dup (p.Glu1605ThrfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310075G>A | CA342071519 | FLG | c.4811C>T (p.Ser1604Leu)
| |
| 1 | g.152310075G>C | CA342071522 | FLG | c.4811C>G (p.Ser1604Ter)
| gnomAD v4 |
| 1 | g.152310075G>T | CA342071525 | FLG | c.4811C>A (p.Ser1604Ter)
| |
| 1 | g.152310075_152310076insTCTCTGAGACAGACTGAC | CA2647993505 | FLG | c.4810_4811insGTCAGTCTGTCTCAGAGA (p.Ser1604delinsCysGlnSerValSerGluThr)
| gnomAD v4 |
| 1 | g.152310076A>C | CA342071529 | FLG | c.4810T>G (p.Ser1604Ala)
| |
| 1 | g.152310076A>G | CA342071532 | FLG | c.4810T>C (p.Ser1604Pro)
| |
| 1 | g.152310076A>T | CA342071534 | FLG | c.4810T>A (p.Ser1604Thr)
| gnomAD v4 |
| 1 | g.152310077G>A | CA420929704 | FLG | c.4809C>T (p.His1603=)
| gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310077G>C | CA342071535 | FLG | c.4809C>G (p.His1603Gln)
| |
| 1 | g.152310077G>T | CA342071538 | FLG | c.4809C>A (p.His1603Gln)
| |
| 1 | g.152310078T>A | CA342071546 | FLG | c.4808A>T (p.His1603Leu)
| gnomAD v4 |
| 1 | g.152310078T>C | CA342071544 | FLG | c.4808A>G (p.His1603Arg)
| |
| 1 | g.152310078T>G | CA1106050 | FLG | c.4808A>C (p.His1603Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310078T= | CA2479950668 | FLG | c.4808A= (p.His1603=)
| |
| 1 | g.152310079G>A | CA342071548 | FLG | c.4807C>T (p.His1603Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310079G>C | CA342071553 | FLG | c.4807C>G (p.His1603Asp)
| |
| 1 | g.152310079G= | CA2479950669 | FLG | c.4807C= (p.His1603=)
| |
| 1 | g.152310079G>T | CA342071550 | FLG | c.4807C>A (p.His1603Asn)
| |
| 1 | g.152310080T>A | CA420929705 | FLG | c.4806A>T (p.Gly1602=)
| gnomAD v4 |
| 1 | g.152310080T>C | CA420929706 | FLG | c.4806A>G (p.Gly1602=)
| gnomAD v4 |
| 1 | g.152310080T>G | CA420929707 | FLG | c.4806A>C (p.Gly1602=)
| |
| 1 | g.152310081C>A | CA342071557 | FLG | c.4805G>T (p.Gly1602Val)
| |
| 1 | g.152310081C>G | CA342071559 | FLG | c.4805G>C (p.Gly1602Ala)
| |
| 1 | g.152310081C>T | CA342071563 | FLG | c.4805G>A (p.Gly1602Glu)
| gnomAD v4 |
| 1 | g.152310082C>A | CA342071567 | FLG | c.4804G>T (p.Gly1602Ter)
| gnomAD v4 |
| 1 | g.152310082C= | CA2479950670 | FLG | c.4804G= (p.Gly1602=)
| |
| 1 | g.152310082C>G | CA1106051 | FLG | c.4804G>C (p.Gly1602Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310082C>T | CA342071573 | FLG | c.4804G>A (p.Gly1602Arg)
| dbSNP gnomAD v4 |
| 1 | g.152310083C>A | CA342071577 | FLG | c.4803G>T (p.Glu1601Asp)
| |
| 1 | g.152310083C>G | CA342071579 | FLG | c.4803G>C (p.Glu1601Asp)
| gnomAD v4 |
| 1 | g.152310083C>T | CA420929708 | FLG | c.4803G>A (p.Glu1601=)
| gnomAD v4 |
| 1 | g.152310084T>A | CA342071582 | FLG | c.4802A>T (p.Glu1601Val)
| |
| 1 | g.152310084T>C | CA342071583 | FLG | c.4802A>G (p.Glu1601Gly)
| |
| 1 | g.152310084T>G | CA342071584 | FLG | c.4802A>C (p.Glu1601Ala)
| |
| 1 | g.152310085C>A | CA342071589 | FLG | c.4801G>T (p.Glu1601Ter)
| |
| 1 | g.152310085C= | CA2479950671 | FLG | c.4801G= (p.Glu1601=)
| |
| 1 | g.152310085C>G | CA1106052 | FLG | c.4801G>C (p.Glu1601Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310085C>T | CA342071585 | FLG | c.4801G>A (p.Glu1601Lys)
| dbSNP gnomAD v4 |
| 1 | g.152310086A>C | CA342071593 | FLG | c.4800T>G (p.Ser1600Arg)
| |
| 1 | g.152310086A>G | CA420929709 | FLG | c.4800T>C (p.Ser1600=)
| gnomAD v4 |
| 1 | g.152310086A>T | CA342071594 | FLG | c.4800T>A (p.Ser1600Arg)
| |
| 1 | g.152310087C>A | CA342071595 | FLG | c.4799G>T (p.Ser1600Ile)
| |
| 1 | g.152310087C>G | CA342071596 | FLG | c.4799G>C (p.Ser1600Thr)
| |
| 1 | g.152310087C>T | CA342071598 | FLG | c.4799G>A (p.Ser1600Asn)
| gnomAD v4 |
| 1 | g.152310088T>A | CA342071601 | FLG | c.4798A>T (p.Ser1600Cys)
| |
| 1 | g.152310088T>C | CA342071603 | FLG | c.4798A>G (p.Ser1600Gly)
| |
| 1 | g.152310088T>G | CA342071605 | FLG | c.4798A>C (p.Ser1600Arg)
| |
| 1 | g.152310089G>A | CA1106054 | FLG | c.4797C>T (p.Asp1599=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310089G>C | CA1106053 | FLG | c.4797C>G (p.Asp1599Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310089G= | CA1143722955 | FLG | c.4797C= (p.Asp1599=)
| |
| 1 | g.152310089G>T | CA342071611 | FLG | c.4797C>A (p.Asp1599Glu)
| |
| 1 | g.152310090T>A | CA342071618 | FLG | c.4796A>T (p.Asp1599Val)
| |
| 1 | g.152310090T>C | CA342071616 | FLG | c.4796A>G (p.Asp1599Gly)
| |
| 1 | g.152310090T>G | CA342071614 | FLG | c.4796A>C (p.Asp1599Ala)
| |
| 1 | g.152310091C>A | CA342071621 | FLG | c.4795G>T (p.Asp1599Tyr)
| |
| 1 | g.152310091C= | CA2479950672 | FLG | c.4795G= (p.Asp1599=)
| |
| 1 | g.152310091C>G | CA342071622 | FLG | c.4795G>C (p.Asp1599His)
| |
| 1 | g.152310091C>T | CA342071623 | FLG | c.4795G>A (p.Asp1599Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310092C>A | CA1106055 | FLG | c.4794G>T (p.Arg1598Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310092C= | CA2479950673 | FLG | c.4794G= (p.Arg1598=)
| |
| 1 | g.152310092C>G | CA342071624 | FLG | c.4794G>C (p.Arg1598Ser)
| dbSNP |
| 1 | g.152310092C>T | CA420929710 | FLG | c.4794G>A (p.Arg1598=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310093C>A | CA342071625 | FLG | c.4793G>T (p.Arg1598Met)
| |
| 1 | g.152310093C>G | CA342071626 | FLG | c.4793G>C (p.Arg1598Thr)
| gnomAD v4 |
| 1 | g.152310093C>T | CA342071627 | FLG | c.4793G>A (p.Arg1598Lys)
| gnomAD v4 |
| 1 | g.152310094T>A | CA342071628 | FLG | c.4792A>T (p.Arg1598Trp)
| gnomAD v4 |
| 1 | g.152310094T>C | CA342071629 | FLG | c.4792A>G (p.Arg1598Gly)
| |
| 1 | g.152310094T>G | CA420929711 | FLG | c.4792A>C (p.Arg1598=)
| |
| 1 | g.152310095G>A | CA420929712 | FLG | c.4791C>T (p.Asp1597=)
| dbSNP |
| 1 | g.152310095G>C | CA342071630 | FLG | c.4791C>G (p.Asp1597Glu)
| |
| 1 | g.152310095G= | CA2479950674 | FLG | c.4791C= (p.Asp1597=)
| |
| 1 | g.152310095G>T | CA1106056 | FLG | c.4791C>A (p.Asp1597Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310096T>A | CA342071633 | FLG | c.4790A>T (p.Asp1597Val)
| dbSNP gnomAD v4 |
| 1 | g.152310096T>C | CA342071632 | FLG | c.4790A>G (p.Asp1597Gly)
| |
| 1 | g.152310096T>G | CA342071631 | FLG | c.4790A>C (p.Asp1597Ala)
| |
| 1 | g.152310096T= | CA2479950675 | FLG | c.4790A= (p.Asp1597=)
| |
| 1 | g.152310097C>A | CA342071634 | FLG | c.4789G>T (p.Asp1597Tyr)
| |
| 1 | g.152310097C= | CA1144732139 | FLG | c.4789G= (p.Asp1597=)
| |
| 1 | g.152310097C>G | CA1106057 | FLG | c.4789G>C (p.Asp1597His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310097C>T | CA1106058 | FLG | c.4789G>A (p.Asp1597Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310097_152310101delinsCCTGA | CA2479950676 | FLG | c.4785_4789delinsTCAGG (p.Ser1595=)
| |
| 1 | g.152310098C>A | CA342071635 | FLG | c.4788G>T (p.Gln1596His)
| |
| 1 | g.152310098C= | CA2479950677 | FLG | c.4788G= (p.Gln1596=)
| |
| 1 | g.152310098C>G | CA342071636 | FLG | c.4788G>C (p.Gln1596His)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310098C>T | CA420929713 | FLG | c.4788G>A (p.Gln1596=)
| dbSNP gnomAD v4 |
| 1 | g.152310100_152310103del | CA1106059 | FLG | c.4785_4788del (p.Ser1595ArgfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310099T>A | CA342071637 | FLG | c.4787A>T (p.Gln1596Leu)
| |
| 1 | g.152310099T>C | CA342071638 | FLG | c.4787A>G (p.Gln1596Arg)
| |
| 1 | g.152310099T>G | CA342071640 | FLG | c.4787A>C (p.Gln1596Pro)
| |
| 1 | g.152310100G>A | CA10602733 | FLG | c.4786C>T (p.Gln1596Ter)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.152310100G>C | CA342071645 | FLG | c.4786C>G (p.Gln1596Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310100G= | CA2479950678 | FLG | c.4786C= (p.Gln1596=)
| |
| 1 | g.152310100G>T | CA1106060 | FLG | c.4786C>A (p.Gln1596Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
