1 | g.152310097_152310101delinsCCTGA | CA2479950676 | FLG | c.4785_4789delinsTCAGG (p.Ser1595=)
| |
1 | g.152310100_152310103del | CA1106059 | FLG | c.4785_4788del (p.Ser1595ArgfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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 |
1 | g.152310101A= | CA2479950679 | FLG | c.4785T= (p.Ser1595=)
| |
1 | g.152310101A>C | CA342071652 | FLG | c.4785T>G (p.Ser1595Arg)
| |
1 | g.152310101A>G | CA1106061 | FLG | c.4785T>C (p.Ser1595=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152310101A>T | CA342071650 | FLG | c.4785T>A (p.Ser1595Arg)
| |
1 | g.152310102C>A | CA1106063 | FLG | c.4784G>T (p.Ser1595Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152310102C= | CA2479950680 | FLG | c.4784G= (p.Ser1595=)
| |
1 | g.152310102C>G | CA342071657 | FLG | c.4784G>C (p.Ser1595Thr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152310102C>T | CA1106062 | FLG | c.4784G>A (p.Ser1595Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310103T>A | CA342071662 | FLG | c.4783A>T (p.Ser1595Cys)
| |
1 | g.152310103T>C | CA30554088 | FLG | c.4783A>G (p.Ser1595Gly)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152310103T>G | CA342071666 | FLG | c.4783A>C (p.Ser1595Arg)
| gnomAD v4 |
1 | g.152310103T= | CA1146255076 | FLG | c.4783A= (p.Ser1595=)
| |
1 | g.152310103dup | CA2647993508 | FLG | c.4783dup (p.Ser1595LysfsTer7)
| gnomAD v4 |
1 | g.152310104A= | CA2479950681 | FLG | c.4782T= (p.Val1594=)
| |
1 | g.152310104A>C | CA420929714 | FLG | c.4782T>G (p.Val1594=)
| |
1 | g.152310104A>G | CA420929715 | FLG | c.4782T>C (p.Val1594=)
| dbSNP gnomAD v4 |
1 | g.152310104A>T | CA420929716 | FLG | c.4782T>A (p.Val1594=)
| |
1 | g.152310105A= | CA1148271747 | FLG | c.4781T= (p.Val1594=)
| |
1 | g.152310105A>C | CA1106064 | FLG | c.4781T>G (p.Val1594Gly)
| dbSNP ExAC gnomAD v2 |
1 | g.152310105A>G | CA342071669 | FLG | c.4781T>C (p.Val1594Ala)
| |
1 | g.152310105A>T | CA342071671 | FLG | c.4781T>A (p.Val1594Asp)
| |
1 | g.152310106C>A | CA342071676 | FLG | c.4780G>T (p.Val1594Phe)
| |
1 | g.152310106C= | CA2479950682 | FLG | c.4780G= (p.Val1594=)
| |
1 | g.152310106C>G | CA342071678 | FLG | c.4780G>C (p.Val1594Leu)
| |
1 | g.152310106C>T | CA30554093 | FLG | c.4780G>A (p.Val1594Ile)
| dbSNP |
1 | g.152310107A>C | CA342071682 | FLG | c.4779T>G (p.Ser1593Arg)
| |
1 | g.152310107A>G | CA420929717 | FLG | c.4779T>C (p.Ser1593=)
| gnomAD v4 |
1 | g.152310107A>T | CA342071684 | FLG | c.4779T>A (p.Ser1593Arg)
| |
1 | g.152310108C>A | CA342071692 | FLG | c.4778G>T (p.Ser1593Ile)
| |
1 | g.152310108C= | CA2479950683 | FLG | c.4778G= (p.Ser1593=)
| |
1 | g.152310108C>G | CA342071687 | FLG | c.4778G>C (p.Ser1593Thr)
| |
1 | g.152310108C>T | CA342071690 | FLG | c.4778G>A (p.Ser1593Asn)
| dbSNP |
1 | g.152310109T>A | CA342071695 | FLG | c.4777A>T (p.Ser1593Cys)
| |
1 | g.152310109T>C | CA342071697 | FLG | c.4777A>G (p.Ser1593Gly)
| gnomAD v4 |
1 | g.152310109T>G | CA342071699 | FLG | c.4777A>C (p.Ser1593Arg)
| |
1 | g.152310110G>A | CA1106065 | FLG | c.4776C>T (p.Ser1592=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310110G>C | CA420929718 | FLG | c.4776C>G (p.Ser1592=)
| |
1 | g.152310110G= | CA1143504004 | FLG | c.4776C= (p.Ser1592=)
| |
1 | g.152310110G>T | CA420929719 | FLG | c.4776C>A (p.Ser1592=)
| |
1 | g.152310111G>A | CA342071704 | FLG | c.4775C>T (p.Ser1592Phe)
| dbSNP |
1 | g.152310111G>C | CA342071706 | FLG | c.4775C>G (p.Ser1592Cys)
| gnomAD v4 |
1 | g.152310111G= | CA2479950684 | FLG | c.4775C= (p.Ser1592=)
| |
1 | g.152310111G>T | CA342071708 | FLG | c.4775C>A (p.Ser1592Tyr)
| COSMIC |
1 | g.152310112A>C | CA342071711 | FLG | c.4774T>G (p.Ser1592Ala)
| |
1 | g.152310112A>G | CA342071713 | FLG | c.4774T>C (p.Ser1592Pro)
| |
1 | g.152310112A>T | CA342071715 | FLG | c.4774T>A (p.Ser1592Thr)
| |
1 | g.152310113T>A | CA420929720 | FLG | c.4773A>T (p.Gly1591=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152310113T>C | CA420929721 | FLG | c.4773A>G (p.Gly1591=)
| |
1 | g.152310113T>G | CA420929722 | FLG | c.4773A>C (p.Gly1591=)
| |
1 | g.152310113T= | CA2479950685 | FLG | c.4773A= (p.Gly1591=)
| |
1 | g.152310114C>A | CA1106067 | FLG | c.4772G>T (p.Gly1591Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310114C= | CA1141411583 | FLG | c.4772G= (p.Gly1591=)
| |
1 | g.152310114C>G | CA342071718 | FLG | c.4772G>C (p.Gly1591Ala)
| |
1 | g.152310114C>T | CA1106066 | FLG | c.4772G>A (p.Gly1591Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310115C>A | CA30554116 | FLG | c.4771G>T (p.Gly1591Ter)
| dbSNP gnomAD v4 |
1 | g.152310115C= | CA1143966059 | FLG | c.4771G= (p.Gly1591=)
| |
1 | g.152310115C>G | CA1106068 | FLG | c.4771G>C (p.Gly1591Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310115C>T | CA342071721 | FLG | c.4771G>A (p.Gly1591Arg)
| |
1 | g.152310116C>A | CA342071723 | FLG | c.4770G>T (p.Gln1590His)
| gnomAD v4 |
1 | g.152310116C>G | CA342071725 | FLG | c.4770G>C (p.Gln1590His)
| |
1 | g.152310116C>T | CA420929723 | FLG | c.4770G>A (p.Gln1590=)
| |
1 | g.152310117T>A | CA342071728 | FLG | c.4769A>T (p.Gln1590Leu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152310117T>C | CA342071731 | FLG | c.4769A>G (p.Gln1590Arg)
| COSMIC |
1 | g.152310117T>G | CA342071733 | FLG | c.4769A>C (p.Gln1590Pro)
| dbSNP |
1 | g.152310117T= | CA2479950687 | FLG | c.4769A= (p.Gln1590=)
| |
1 | g.152310117_152310118delinsTG | CA2479950686 | FLG | c.4768_4769delinsCA (p.Gln1590=)
| |
1 | g.152310118G>A | CA342071737 | FLG | c.4768C>T (p.Gln1590Ter)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152310118G>C | CA342071738 | FLG | c.4768C>G (p.Gln1590Glu)
| gnomAD v4 |
1 | g.152310118G= | CA2479950689 | FLG | c.4768C= (p.Gln1590=)
| |
1 | g.152310118G>T | CA342071740 | FLG | c.4768C>A (p.Gln1590Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310119del | CA2479950688 | FLG | c.4768del (p.Gln1590ArgfsTer?)
| dbSNP |
1 | g.152310119G>A | CA1106069 | FLG | c.4767C>T (p.Arg1589=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310119G>C | CA420929724 | FLG | c.4767C>G (p.Arg1589=)
| |
1 | g.152310119G= | CA1143582674 | FLG | c.4767C= (p.Arg1589=)
| |
1 | g.152310119G>T | CA1106070 | FLG | c.4767C>A (p.Arg1589=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310120C>A | CA342071746 | FLG | c.4766G>T (p.Arg1589Leu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152310120C= | CA1141934718 | FLG | c.4766G= (p.Arg1589=)
| |
1 | g.152310120C>G | CA1106072 | FLG | c.4766G>C (p.Arg1589Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310120C>T | CA1106071 | FLG | c.4766G>A (p.Arg1589His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310121G>A | CA1106073 | FLG | c.4765C>T (p.Arg1589Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152310121G>C | CA342071751 | FLG | c.4765C>G (p.Arg1589Gly)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152310121G= | CA1143359302 | FLG | c.4765C= (p.Arg1589=)
| |
1 | g.152310121G>T | CA342071748 | FLG | c.4765C>A (p.Arg1589Ser)
| gnomAD v4 |
1 | g.152310122C>A | CA342071755 | FLG | c.4764G>T (p.Arg1588Ser)
| gnomAD v4 |
1 | g.152310122C= | CA2479950690 | FLG | c.4764G= (p.Arg1588=)
| |
1 | g.152310122C>G | CA342071756 | FLG | c.4764G>C (p.Arg1588Ser)
| |
1 | g.152310122C>T | CA420929728 | FLG | c.4764G>A (p.Arg1588=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310123C>A | CA342071760 | FLG | c.4763G>T (p.Arg1588Met)
| |
1 | g.152310123C= | CA2479950691 | FLG | c.4763G= (p.Arg1588=)
| |
1 | g.152310123C>G | CA342071761 | FLG | c.4763G>C (p.Arg1588Thr)
| |
1 | g.152310123C>T | CA342071763 | FLG | c.4763G>A (p.Arg1588Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310124T>A | CA342071766 | FLG | c.4762A>T (p.Arg1588Trp)
| |
1 | g.152310124T>C | CA342071768 | FLG | c.4762A>G (p.Arg1588Gly)
| gnomAD v4 |
1 | g.152310124T>G | CA420929729 | FLG | c.4762A>C (p.Arg1588=)
| |
1 | g.152310125G>A | CA1106075 | FLG | c.4761C>T (p.Ser1587=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310125G>C | CA1106074 | FLG | c.4761C>G (p.Ser1587Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310125G= | CA1142245315 | FLG | c.4761C= (p.Ser1587=)
| |
1 | g.152310125G>T | CA342071774 | FLG | c.4761C>A (p.Ser1587Arg)
| |
1 | g.152310126C>A | CA342071776 | FLG | c.4760G>T (p.Ser1587Ile)
| |
1 | g.152310126C= | CA1147562487 | FLG | c.4760G= (p.Ser1587=)
| |
1 | g.152310126C>G | CA30554176 | FLG | c.4760G>C (p.Ser1587Thr)
| dbSNP |
1 | g.152310126C>T | CA1106076 | FLG | c.4760G>A (p.Ser1587Asn)
| dbSNP ExAC gnomAD v4 |
1 | g.152310127T>A | CA342071783 | FLG | c.4759A>T (p.Ser1587Cys)
| |
1 | g.152310127T>C | CA342071786 | FLG | c.4759A>G (p.Ser1587Gly)
| |
1 | g.152310127T>G | CA342071781 | FLG | c.4759A>C (p.Ser1587Arg)
| |
1 | g.152310128T>A | CA420929733 | FLG | c.4758A>T (p.Thr1586=)
| |
1 | g.152310128T>C | CA420929735 | FLG | c.4758A>G (p.Thr1586=)
| |
1 | g.152310128T>G | CA420929734 | FLG | c.4758A>C (p.Thr1586=)
| |
1 | g.152310129G>A | CA342071789 | FLG | c.4757C>T (p.Thr1586Ile)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152310129G>C | CA342071791 | FLG | c.4757C>G (p.Thr1586Arg)
| gnomAD v4 |
1 | g.152310129G= | CA2479950692 | FLG | c.4757C= (p.Thr1586=)
| |
1 | g.152310129G>T | CA30554189 | FLG | c.4757C>A (p.Thr1586Lys)
| dbSNP COSMIC |
1 | g.152310130T>A | CA342071795 | FLG | c.4756A>T (p.Thr1586Ser)
| |
1 | g.152310130T>C | CA342071796 | FLG | c.4756A>G (p.Thr1586Ala)
| |
1 | g.152310130T>G | CA342071799 | FLG | c.4756A>C (p.Thr1586Pro)
| |
1 | g.152310131C>A | CA342071802 | FLG | c.4755G>T (p.Lys1585Asn)
| |
1 | g.152310131C= | CA1143374482 | FLG | c.4755G= (p.Lys1585=)
| |
1 | g.152310131C>G | CA30554193 | FLG | c.4755G>C (p.Lys1585Asn)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152310131C>T | CA420929736 | FLG | c.4755G>A (p.Lys1585=)
| |
1 | g.152310132T>A | CA342071806 | FLG | c.4754A>T (p.Lys1585Met)
| |
1 | g.152310132T>C | CA342071809 | FLG | c.4754A>G (p.Lys1585Arg)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152310132T>G | CA342071811 | FLG | c.4754A>C (p.Lys1585Thr)
| |
1 | g.152310132T= | CA2479950693 | FLG | c.4754A= (p.Lys1585=)
| |
1 | g.152310133T>A | CA342071814 | FLG | c.4753A>T (p.Lys1585Ter)
| |
1 | g.152310133T>C | CA342071816 | FLG | c.4753A>G (p.Lys1585Glu)
| dbSNP gnomAD v4 |
1 | g.152310133T>G | CA342071818 | FLG | c.4753A>C (p.Lys1585Gln)
| |
1 | g.152310133T= | CA2479950694 | FLG | c.4753A= (p.Lys1585=)
| |
1 | g.152310134G>A | CA420929738 | FLG | c.4752C>T (p.Ser1584=)
| gnomAD v4 |
1 | g.152310134G>C | CA420929739 | FLG | c.4752C>G (p.Ser1584=)
| dbSNP gnomAD v2 |
1 | g.152310134G= | CA2479950695 | FLG | c.4752C= (p.Ser1584=)
| |
1 | g.152310134G>T | CA1106077 | FLG | c.4752C>A (p.Ser1584=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310135G>A | CA342071827 | FLG | c.4751C>T (p.Ser1584Phe)
| gnomAD v4 |
1 | g.152310135G>C | CA342071823 | FLG | c.4751C>G (p.Ser1584Cys)
| |
1 | g.152310135G>T | CA342071825 | FLG | c.4751C>A (p.Ser1584Tyr)
| |
1 | g.152310136A= | CA2479950696 | FLG | c.4750T= (p.Ser1584=)
| |
1 | g.152310136A>C | CA342071830 | FLG | c.4750T>G (p.Ser1584Ala)
| dbSNP |
1 | g.152310136A>G | CA342071832 | FLG | c.4750T>C (p.Ser1584Pro)
| |
1 | g.152310136A>T | CA342071834 | FLG | c.4750T>A (p.Ser1584Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310137C>A | CA420929741 | FLG | c.4749G>T (p.Gly1583=)
| gnomAD v4 |
1 | g.152310137C= | CA2479950697 | FLG | c.4749G= (p.Gly1583=)
| |
1 | g.152310137C>G | CA420929742 | FLG | c.4749G>C (p.Gly1583=)
| |
1 | g.152310137C>T | CA1106078 | FLG | c.4749G>A (p.Gly1583=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310138C>A | CA342071839 | FLG | c.4748G>T (p.Gly1583Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152310138C= | CA2479950698 | FLG | c.4748G= (p.Gly1583=)
| |
1 | g.152310138C>G | CA342071841 | FLG | c.4748G>C (p.Gly1583Ala)
| |
1 | g.152310138C>T | CA1106079 | FLG | c.4748G>A (p.Gly1583Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310139C>A | CA30554224 | FLG | c.4747G>T (p.Gly1583Trp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310139C= | CA2479950699 | FLG | c.4747G= (p.Gly1583=)
| |
1 | g.152310139C>G | CA342071843 | FLG | c.4747G>C (p.Gly1583Arg)
| |
1 | g.152310139C>T | CA342071845 | FLG | c.4747G>A (p.Gly1583Arg)
| |
1 | g.152310140C>A | CA420929743 | FLG | c.4746G>T (p.Ala1582=)
| |
1 | g.152310140C= | CA1143499304 | FLG | c.4746G= (p.Ala1582=)
| |
1 | g.152310140C>G | CA420929744 | FLG | c.4746G>C (p.Ala1582=)
| gnomAD v4 |
1 | g.152310140C>T | CA1106080 | FLG | c.4746G>A (p.Ala1582=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152310141G>A | CA30554238 | FLG | c.4745C>T (p.Ala1582Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152310141G>C | CA342071851 | FLG | c.4745C>G (p.Ala1582Gly)
| dbSNP |
1 | g.152310141G= | CA2479950700 | FLG | c.4745C= (p.Ala1582=)
| |
1 | g.152310141G>T | CA342071850 | FLG | c.4745C>A (p.Ala1582Glu)
| |
1 | g.152310142C>A | CA342071855 | FLG | c.4744G>T (p.Ala1582Ser)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152310142C= | CA1143602833 | FLG | c.4744G= (p.Ala1582=)
| |
1 | g.152310142C>G | CA1106081 | FLG | c.4744G>C (p.Ala1582Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310142C>T | CA342071858 | FLG | c.4744G>A (p.Ala1582Thr)
| dbSNP |
1 | g.152310143T>A | CA420929746 | FLG | c.4743A>T (p.Ser1581=)
| |
1 | g.152310143T>C | CA420929747 | FLG | c.4743A>G (p.Ser1581=)
| |
1 | g.152310143T>G | CA420929748 | FLG | c.4743A>C (p.Ser1581=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152310143T= | CA2479950701 | FLG | c.4743A= (p.Ser1581=)
| |
1 | g.152310144G>A | CA342071861 | FLG | c.4742C>T (p.Ser1581Leu)
| |
1 | g.152310144G>C | CA342071863 | FLG | c.4742C>G (p.Ser1581Ter)
| gnomAD v4 |
1 | g.152310144G>T | CA342071865 | FLG | c.4742C>A (p.Ser1581Ter)
| |
1 | g.152310145A= | CA2479950702 | FLG | c.4741T= (p.Ser1581=)
| |
1 | g.152310145A>C | CA342071872 | FLG | c.4741T>G (p.Ser1581Ala)
| |
1 | g.152310145A>G | CA342071868 | FLG | c.4741T>C (p.Ser1581Pro)
| gnomAD v4 |
1 | g.152310145A>T | CA342071870 | FLG | c.4741T>A (p.Ser1581Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310146T>A | CA342071873 | FLG | c.4740A>T (p.Glu1580Asp)
| |
1 | g.152310146T>C | CA420929868 | FLG | c.4740A>G (p.Glu1580=)
| |
1 | g.152310146T>G | CA342071874 | FLG | c.4740A>C (p.Glu1580Asp)
| |
1 | g.152310147T>A | CA342071877 | FLG | c.4739A>T (p.Glu1580Val)
| |
1 | g.152310147T>C | CA342071879 | FLG | c.4739A>G (p.Glu1580Gly)
| |
1 | g.152310147T>G | CA342071881 | FLG | c.4739A>C (p.Glu1580Ala)
| |
1 | g.152310148C>A | CA342071884 | FLG | c.4738G>T (p.Glu1580Ter)
| gnomAD v4 |
1 | g.152310148C= | CA2479950703 | FLG | c.4738G= (p.Glu1580=)
| |
1 | g.152310148C>G | CA342071888 | FLG | c.4738G>C (p.Glu1580Gln)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152310148C>T | CA342071886 | FLG | c.4738G>A (p.Glu1580Lys)
| COSMIC |
1 | g.152310149T>A | CA1106082 | FLG | c.4737A>T (p.Gly1579=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310149T>C | CA420929878 | FLG | c.4737A>G (p.Gly1579=)
| |
1 | g.152310149T>G | CA420929875 | FLG | c.4737A>C (p.Gly1579=)
| |
1 | g.152310149T= | CA1141890160 | FLG | c.4737A= (p.Gly1579=)
| |
1 | g.152310150C>A | CA342071893 | FLG | c.4736G>T (p.Gly1579Val)
| |
1 | g.152310150C>G | CA342071895 | FLG | c.4736G>C (p.Gly1579Ala)
| gnomAD v4 |
1 | g.152310150C>T | CA342071897 | FLG | c.4736G>A (p.Gly1579Glu)
| gnomAD v3 gnomAD v4 |
1 | g.152310151_152310152del | CA645527670 | FLG | c.4735_4736del (p.Gly1579ArgfsTer16)
| COSMIC |
1 | g.152310151C>A | CA342071900 | FLG | c.4735G>T (p.Gly1579Ter)
| |
1 | g.152310151C= | CA2479950704 | FLG | c.4735G= (p.Gly1579=)
| |
1 | g.152310151C>G | CA342071902 | FLG | c.4735G>C (p.Gly1579Arg)
| gnomAD v4 |
1 | g.152310151C>T | CA30554245 | FLG | c.4735G>A (p.Gly1579Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152310152C>A | CA342071905 | FLG | c.4734G>T (p.Gln1578His)
| |
1 | g.152310152C>G | CA342071908 | FLG | c.4734G>C (p.Gln1578His)
| |
1 | g.152310152C>T | CA420929887 | FLG | c.4734G>A (p.Gln1578=)
| |
1 | g.152310153T>A | CA1106083 | FLG | c.4733A>T (p.Gln1578Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310153T>C | CA342071912 | FLG | c.4733A>G (p.Gln1578Arg)
| dbSNP |
1 | g.152310153T>G | CA342071914 | FLG | c.4733A>C (p.Gln1578Pro)
| |
1 | g.152310153T= | CA2479950705 | FLG | c.4733A= (p.Gln1578=)
| |
1 | g.152310154G>A | CA342071919 | FLG | c.4732C>T (p.Gln1578Ter)
| |
1 | g.152310154G>C | CA342071921 | FLG | c.4732C>G (p.Gln1578Glu)
| |
1 | g.152310154G>T | CA342071917 | FLG | c.4732C>A (p.Gln1578Lys)
| |
1 | g.152310155G>A | CA420929889 | FLG | c.4731C>T (p.Gly1577=)
| |
1 | g.152310155G>C | CA420929890 | FLG | c.4731C>G (p.Gly1577=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152310155G= | CA2479950706 | FLG | c.4731C= (p.Gly1577=)
| |
1 | g.152310155G>T | CA420929892 | FLG | c.4731C>A (p.Gly1577=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152310156C>A | CA342071924 | FLG | c.4730G>T (p.Gly1577Val)
| gnomAD v4 |
1 | g.152310156C= | CA2479950707 | FLG | c.4730G= (p.Gly1577=)
| |
1 | g.152310156C>G | CA342071928 | FLG | c.4730G>C (p.Gly1577Ala)
| |
1 | g.152310156C>T | CA342071926 | FLG | c.4730G>A (p.Gly1577Asp)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152310157C>A | CA342071931 | FLG | c.4729G>T (p.Gly1577Cys)
| dbSNP |
1 | g.152310157C= | CA2479950708 | FLG | c.4729G= (p.Gly1577=)
| |
1 | g.152310157C>G | CA1106084 | FLG | c.4729G>C (p.Gly1577Arg)
| dbSNP ExAC gnomAD v2 |
1 | g.152310157C>T | CA342071933 | FLG | c.4729G>A (p.Gly1577Ser)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152310158C>A | CA420929904 | FLG | c.4728G>T (p.Val1576=)
| |
1 | g.152310158C= | CA2479950709 | FLG | c.4728G= (p.Val1576=)
| |
1 | g.152310158C>G | CA420929905 | FLG | c.4728G>C (p.Val1576=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152310158C>T | CA420929906 | FLG | c.4728G>A (p.Val1576=)
| |
1 | g.152310159A= | CA1141868274 | FLG | c.4727T= (p.Val1576=)
| |
1 | g.152310159A>C | CA342071937 | FLG | c.4727T>G (p.Val1576Gly)
| |
1 | g.152310159A>G | CA342071939 | FLG | c.4727T>C (p.Val1576Ala)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152310159A>T | CA1106085 | FLG | c.4727T>A (p.Val1576Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310160C>A | CA1106086 | FLG | c.4726G>T (p.Val1576Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310160C= | CA2479950710 | FLG | c.4726G= (p.Val1576=)
| |
1 | g.152310160C>G | CA1106087 | FLG | c.4726G>C (p.Val1576Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310160C>T | CA342071947 | FLG | c.4726G>A (p.Val1576Met)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152310161C>A | CA342071951 | FLG | c.4725G>T (p.Gln1575His)
| gnomAD v4 |
1 | g.152310161C= | CA2479950711 | FLG | c.4725G= (p.Gln1575=)
| |
1 | g.152310161C>G | CA1106088 | FLG | c.4725G>C (p.Gln1575His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310161C>T | CA420929918 | FLG | c.4725G>A (p.Gln1575=)
| dbSNP COSMIC |
1 | g.152310162T>A | CA1106089 | FLG | c.4724A>T (p.Gln1575Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310162T>C | CA342071955 | FLG | c.4724A>G (p.Gln1575Arg)
| |
1 | g.152310162T>G | CA342071957 | FLG | c.4724A>C (p.Gln1575Pro)
| |
1 | g.152310162T= | CA2479950712 | FLG | c.4724A= (p.Gln1575=)
| |
1 | g.152310163G>A | CA342071960 | FLG | c.4723C>T (p.Gln1575Ter)
| |
1 | g.152310163G>C | CA342071962 | FLG | c.4723C>G (p.Gln1575Glu)
| |
1 | g.152310163G>T | CA342071964 | FLG | c.4723C>A (p.Gln1575Lys)
| |
1 | g.152310164T>A | CA420929924 | FLG | c.4722A>T (p.Ser1574=)
| |
1 | g.152310164T>C | CA420929923 | FLG | c.4722A>G (p.Ser1574=)
| dbSNP |
1 | g.152310164T>G | CA420929922 | FLG | c.4722A>C (p.Ser1574=)
| |
1 | g.152310164T= | CA2479950714 | FLG | c.4722A= (p.Ser1574=)
| |
1 | g.152310164_152310166delinsTGA | CA2479950713 | FLG | c.4720_4722delinsTCA (p.Ser1574=)
| |
1 | g.152310165G>A | CA342071973 | FLG | c.4721C>T (p.Ser1574Leu)
| |
1 | g.152310165G>C | CA1106091 | FLG | c.4721C>G (p.Ser1574Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152310165G= | CA1148234620 | FLG | c.4721C= (p.Ser1574=)
| |
1 | g.152310165G>T | CA342071971 | FLG | c.4721C>A (p.Ser1574Ter)
| |
1 | g.152310166_152310167del | CA1106090 | FLG | c.4720_4721del (p.Ser1574ThrfsTer21)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310166A>C | CA342071975 | FLG | c.4720T>G (p.Ser1574Ala)
| |
1 | g.152310166A>G | CA342071977 | FLG | c.4720T>C (p.Ser1574Pro)
| |
1 | g.152310166A>T | CA342071979 | FLG | c.4720T>A (p.Ser1574Thr)
| gnomAD v4 |
1 | g.152310167G>A | CA420929928 | FLG | c.4719C>T (p.His1573=)
| dbSNP |
1 | g.152310167G>C | CA342071982 | FLG | c.4719C>G (p.His1573Gln)
| |
1 | g.152310167G= | CA2479950715 | FLG | c.4719C= (p.His1573=)
| |
1 | g.152310167G>T | CA342071984 | FLG | c.4719C>A (p.His1573Gln)
| |
1 | g.152310168T>A | CA342071987 | FLG | c.4718A>T (p.His1573Leu)
| |
1 | g.152310168T>C | CA342071989 | FLG | c.4718A>G (p.His1573Arg)
| |
1 | g.152310168T>G | CA1106092 | FLG | c.4718A>C (p.His1573Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310168T= | CA2479950716 | FLG | c.4718A= (p.His1573=)
| |
1 | g.152310169G>A | CA342071992 | FLG | c.4717C>T (p.His1573Tyr)
| |
1 | g.152310169G>C | CA1106094 | FLG | c.4717C>G (p.His1573Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310169G= | CA1143465272 | FLG | c.4717C= (p.His1573=)
| |
1 | g.152310169G>T | CA1106093 | FLG | c.4717C>A (p.His1573Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310170T>A | CA342071998 | FLG | c.4716A>T (p.Arg1572Ser)
| |
1 | g.152310170T>C | CA30554325 | FLG | c.4716A>G (p.Arg1572=)
| dbSNP |
1 | g.152310170T>G | CA1106095 | FLG | c.4716A>C (p.Arg1572Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310170T= | CA1143379191 | FLG | c.4716A= (p.Arg1572=)
| |
1 | g.152310171C>A | CA342072001 | FLG | c.4715G>T (p.Arg1572Ile)
| |
1 | g.152310171C= | CA2479950717 | FLG | c.4715G= (p.Arg1572=)
| |
1 | g.152310171C>G | CA342072003 | FLG | c.4715G>C (p.Arg1572Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310171C>T | CA1106096 | FLG | c.4715G>A (p.Arg1572Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310172T>A | CA342072008 | FLG | c.4714A>T (p.Arg1572Ter)
| |
1 | g.152310172T>C | CA1106097 | FLG | c.4714A>G (p.Arg1572Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310172T>G | CA420929944 | FLG | c.4714A>C (p.Arg1572=)
| |
1 | g.152310172T= | CA2479950718 | FLG | c.4714A= (p.Arg1572=)
| |
1 | g.152310173A= | CA2479950719 | FLG | c.4713T= (p.Ser1571=)
| |
1 | g.152310173A>C | CA420929945 | FLG | c.4713T>G (p.Ser1571=)
| |
1 | g.152310173A>G | CA420929946 | FLG | c.4713T>C (p.Ser1571=)
| dbSNP |
1 | g.152310173A>T | CA420929947 | FLG | c.4713T>A (p.Ser1571=)
| |
1 | g.152310174G>A | CA342072012 | FLG | c.4712C>T (p.Ser1571Phe)
| |
1 | g.152310174G>C | CA342072014 | FLG | c.4712C>G (p.Ser1571Cys)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152310174G= | CA2479950720 | FLG | c.4712C= (p.Ser1571=)
| |
1 | g.152310174G>T | CA342072016 | FLG | c.4712C>A (p.Ser1571Tyr)
| dbSNP |
1 | g.152310175A= | CA2479950721 | FLG | c.4711T= (p.Ser1571=)
| |
1 | g.152310175A>C | CA342072019 | FLG | c.4711T>G (p.Ser1571Ala)
| gnomAD v4 |
1 | g.152310175A>G | CA342072021 | FLG | c.4711T>C (p.Ser1571Pro)
| |
1 | g.152310175A>T | CA1106098 | FLG | c.4711T>A (p.Ser1571Thr)
| dbSNP ExAC gnomAD v2 |
1 | g.152310176G>A | CA420929956 | FLG | c.4710C>T (p.Ser1570=)
| gnomAD v4 |
1 | g.152310176G>C | CA342072024 | FLG | c.4710C>G (p.Ser1570Arg)
| |
1 | g.152310176G>T | CA342072026 | FLG | c.4710C>A (p.Ser1570Arg)
| gnomAD v4 |
1 | g.152310176_152310177delinsGC | CA2479950722 | FLG | c.4709_4710delinsGC (p.Ser1570=)
| |
1 | g.152310177del | CA526662244 | FLG | c.4709del (p.Ser1570ThrfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152310177C>A | CA342072030 | FLG | c.4709G>T (p.Ser1570Ile)
| |
1 | g.152310177C>G | CA342072034 | FLG | c.4709G>C (p.Ser1570Thr)
| |
1 | g.152310177C>T | CA342072032 | FLG | c.4709G>A (p.Ser1570Asn)
| |
1 | g.152310178T>A | CA342072037 | FLG | c.4708A>T (p.Ser1570Cys)
| gnomAD v4 |
1 | g.152310178T>C | CA342072039 | FLG | c.4708A>G (p.Ser1570Gly)
| |
1 | g.152310178T>G | CA342072041 | FLG | c.4708A>C (p.Ser1570Arg)
| gnomAD v4 |
1 | g.152310179G>A | CA420929961 | FLG | c.4707C>T (p.Gly1569=)
| |
1 | g.152310179G>C | CA420929963 | FLG | c.4707C>G (p.Gly1569=)
| |
1 | g.152310179G>T | CA420929965 | FLG | c.4707C>A (p.Gly1569=)
| gnomAD v4 |
1 | g.152310180C>A | CA342072042 | FLG | c.4706G>T (p.Gly1569Val)
| gnomAD v4 |
1 | g.152310180C= | CA2479950723 | FLG | c.4706G= (p.Gly1569=)
| |
1 | g.152310180C>G | CA342072044 | FLG | c.4706G>C (p.Gly1569Ala)
| gnomAD v4 |
1 | g.152310180C>T | CA1106099 | FLG | c.4706G>A (p.Gly1569Asp)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.152310181C>A | CA342072048 | FLG | c.4705G>T (p.Gly1569Cys)
| gnomAD v4 |
1 | g.152310181C= | CA1142209806 | FLG | c.4705G= (p.Gly1569=)
| |
1 | g.152310181C>G | CA342072050 | FLG | c.4705G>C (p.Gly1569Arg)
| |
1 | g.152310181C>T | CA1106100 | FLG | c.4705G>A (p.Gly1569Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152310182G>A | CA1106101 | FLG | c.4704C>T (p.Ala1568=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152310182G>C | CA420929974 | FLG | c.4704C>G (p.Ala1568=)
| dbSNP |
1 | g.152310182G= | CA2479950724 | FLG | c.4704C= (p.Ala1568=)
| |
1 | g.152310182G>T | CA420929972 | FLG | c.4704C>A (p.Ala1568=)
| dbSNP gnomAD v4 |
1 | g.152310183G>A | CA30554342 | FLG | c.4703C>T (p.Ala1568Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152310183G>C | CA342072059 | FLG | c.4703C>G (p.Ala1568Gly)
| |
1 | g.152310183G= | CA2479950725 | FLG | c.4703C= (p.Ala1568=)
| |
1 | g.152310183G>T | CA342072057 | FLG | c.4703C>A (p.Ala1568Asp)
| |
1 | g.152310184C>A | CA342072064 | FLG | c.4702G>T (p.Ala1568Ser)
| gnomAD v4 |
1 | g.152310184C= | CA1143825699 | FLG | c.4702G= (p.Ala1568=)
| |
1 | g.152310184C>G | CA30554343 | FLG | c.4702G>C (p.Ala1568Pro)
| dbSNP gnomAD v4 |
1 | g.152310184C>T | CA1106102 | FLG | c.4702G>A (p.Ala1568Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310185C>A | CA420929979 | FLG | c.4701G>T (p.Arg1567=)
| |
1 | g.152310185C>G | CA420929981 | FLG | c.4701G>C (p.Arg1567=)
| |
1 | g.152310185C>T | CA420929983 | FLG | c.4701G>A (p.Arg1567=)
| |
1 | g.152310186C>A | CA1106104 | FLG | c.4700G>T (p.Arg1567Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310186C= | CA1143894272 | FLG | c.4700G= (p.Arg1567=)
| |
1 | g.152310186C>G | CA342072070 | FLG | c.4700G>C (p.Arg1567Pro)
| |
1 | g.152310186C>T | CA1106103 | FLG | c.4700G>A (p.Arg1567Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152310187G>A | CA1106105 | FLG | c.4699C>T (p.Arg1567Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152310187G>C | CA342072076 | FLG | c.4699C>G (p.Arg1567Gly)
| gnomAD v4 |
1 | g.152310187G= | CA1144385875 | FLG | c.4699C= (p.Arg1567=)
| |
1 | g.152310187G>T | CA420929991 | FLG | c.4699C>A (p.Arg1567=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152310188A= | CA2479950726 | FLG | c.4698T= (p.Thr1566=)
| |
1 | g.152310188A>C | CA420929992 | FLG | c.4698T>G (p.Thr1566=)
| |
1 | g.152310188A>G | CA420929993 | FLG | c.4698T>C (p.Thr1566=)
| |
1 | g.152310188A>T | CA1106106 | FLG | c.4698T>A (p.Thr1566=)
| dbSNP ExAC gnomAD v2 |
1 | g.152310189G>A | CA342072080 | FLG | c.4697C>T (p.Thr1566Ile)
| |
1 | g.152310189G>C | CA342072082 | FLG | c.4697C>G (p.Thr1566Ser)
| |
1 | g.152310189G>T | CA342072083 | FLG | c.4697C>A (p.Thr1566Asn)
| gnomAD v4 |
1 | g.152310190T>A | CA1106108 | FLG | c.4696A>T (p.Thr1566Ser)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.152310190T>C | CA342072087 | FLG | c.4696A>G (p.Thr1566Ala)
| |
1 | g.152310190T>G | CA1106107 | FLG | c.4696A>C (p.Thr1566Pro)
| dbSNP ExAC gnomAD v4 |
1 | g.152310190T= | CA2479950727 | FLG | c.4696A= (p.Thr1566=)
| |
1 | g.152310191G>A | CA420929997 | FLG | c.4695C>T (p.Ser1565=)
| |
1 | g.152310191G>C | CA420929998 | FLG | c.4695C>G (p.Ser1565=)
| |
1 | g.152310191G= | CA2479950728 | FLG | c.4695C= (p.Ser1565=)
| |
1 | g.152310191G>T | CA1106109 | FLG | c.4695C>A (p.Ser1565=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310192G>A | CA342072098 | FLG | c.4694C>T (p.Ser1565Phe)
| |
1 | g.152310192G>C | CA342072094 | FLG | c.4694C>G (p.Ser1565Cys)
| |
1 | g.152310192G>T | CA342072096 | FLG | c.4694C>A (p.Ser1565Tyr)
| gnomAD v4 |
1 | g.152310193A>C | CA342072101 | FLG | c.4693T>G (p.Ser1565Ala)
| gnomAD v4 |
1 | g.152310193A>G | CA342072103 | FLG | c.4693T>C (p.Ser1565Pro)
| |
1 | g.152310193A>T | CA342072105 | FLG | c.4693T>A (p.Ser1565Thr)
| gnomAD v4 |
1 | g.152310194A= | CA2479950729 | FLG | c.4692T= (p.Pro1564=)
| |
1 | g.152310194A>C | CA420930011 | FLG | c.4692T>G (p.Pro1564=)
| |
1 | g.152310194A>G | CA420930012 | FLG | c.4692T>C (p.Pro1564=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310194A>T | CA420930013 | FLG | c.4692T>A (p.Pro1564=)
| |
1 | g.152310195G>A | CA1106110 | FLG | c.4691C>T (p.Pro1564Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310195G>C | CA1106111 | FLG | c.4691C>G (p.Pro1564Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310195G= | CA1142966724 | FLG | c.4691C= (p.Pro1564=)
| |
1 | g.152310195G>T | CA342072110 | FLG | c.4691C>A (p.Pro1564His)
| |
1 | g.152310196G>A | CA1106112 | FLG | c.4690C>T (p.Pro1564Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310196G>C | CA1106113 | FLG | c.4690C>G (p.Pro1564Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310196G= | CA2479950730 | FLG | c.4690C= (p.Pro1564=)
| |
1 | g.152310196G>T | CA342072115 | FLG | c.4690C>A (p.Pro1564Thr)
| dbSNP gnomAD v4 |
1 | g.152310197T>A | CA342072119 | FLG | c.4689A>T (p.Glu1563Asp)
| |
1 | g.152310197T>C | CA420930017 | FLG | c.4689A>G (p.Glu1563=)
| |
1 | g.152310197T>G | CA342072120 | FLG | c.4689A>C (p.Glu1563Asp)
| dbSNP gnomAD v4 |
1 | g.152310197T= | CA2479950731 | FLG | c.4689A= (p.Glu1563=)
| |
1 | g.152310198T>A | CA342072130 | FLG | c.4688A>T (p.Glu1563Val)
| |
1 | g.152310198T>C | CA342072127 | FLG | c.4688A>G (p.Glu1563Gly)
| |
1 | g.152310198T>G | CA342072125 | FLG | c.4688A>C (p.Glu1563Ala)
| gnomAD v4 |
1 | g.152310199C>A | CA342072133 | FLG | c.4687G>T (p.Glu1563Ter)
| |
1 | g.152310199C= | CA2479950732 | FLG | c.4687G= (p.Glu1563=)
| |
1 | g.152310199C>G | CA342072135 | FLG | c.4687G>C (p.Glu1563Gln)
| |
1 | g.152310199C>T | CA342072140 | FLG | c.4687G>A (p.Glu1563Lys)
| dbSNP gnomAD v4 COSMIC |
1 | g.152310200A= | CA2479950733 | FLG | c.4686T= (p.His1562=)
| |
1 | g.152310200A>C | CA342072143 | FLG | c.4686T>G (p.His1562Gln)
| dbSNP |
1 | g.152310200A>G | CA420930022 | FLG | c.4686T>C (p.His1562=)
| gnomAD v4 |
1 | g.152310200A>T | CA342072146 | FLG | c.4686T>A (p.His1562Gln)
| |