| 1 | g.152308752del | CA2647993608 | FLG | c.6134del (p.Ser2045MetfsTer?)
| gnomAD v4 |
| 1 | g.152308752C>A | CA342057463 | FLG | c.6134G>T (p.Ser2045Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152308752C= | CA1140153059 | FLG | c.6134G= (p.Ser2045=)
| |
| 1 | g.152308752C>G | CA1105401 | FLG | c.6134G>C (p.Ser2045Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308752C>T | CA342057468 | FLG | c.6134G>A (p.Ser2045Asn)
| |
| 1 | g.152308753T>A | CA342057473 | FLG | c.6133A>T (p.Ser2045Cys)
| |
| 1 | g.152308753T>C | CA342057477 | FLG | c.6133A>G (p.Ser2045Gly)
| gnomAD v4 |
| 1 | g.152308753T>G | CA342057478 | FLG | c.6133A>C (p.Ser2045Arg)
| |
| 1 | g.152308754G>A | CA420928825 | FLG | c.6132C>T (p.Ala2044=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152308754G>C | CA420928827 | FLG | c.6132C>G (p.Ala2044=)
| |
| 1 | g.152308754G= | CA2479949877 | FLG | c.6132C= (p.Ala2044=)
| |
| 1 | g.152308754G>T | CA420928828 | FLG | c.6132C>A (p.Ala2044=)
| dbSNP |
| 1 | g.152308755G>A | CA342057482 | FLG | c.6131C>T (p.Ala2044Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152308755G>C | CA342057480 | FLG | c.6131C>G (p.Ala2044Gly)
| |
| 1 | g.152308755G= | CA2479949879 | FLG | c.6131C= (p.Ala2044=)
| |
| 1 | g.152308755G>T | CA342057479 | FLG | c.6131C>A (p.Ala2044Asp)
| gnomAD v4 |
| 1 | g.152308756C>A | CA342057489 | FLG | c.6130G>T (p.Ala2044Ser)
| |
| 1 | g.152308756C>G | CA342057493 | FLG | c.6130G>C (p.Ala2044Pro)
| |
| 1 | g.152308756C>T | CA342057499 | FLG | c.6130G>A (p.Ala2044Thr)
| COSMIC |
| 1 | g.152308757C>A | CA342057503 | FLG | c.6129G>T (p.Gln2043His)
| |
| 1 | g.152308757C>G | CA342057506 | FLG | c.6129G>C (p.Gln2043His)
| gnomAD v4 |
| 1 | g.152308757C>T | CA420928831 | FLG | c.6129G>A (p.Gln2043=)
| gnomAD v4 |
| 1 | g.152308758T>A | CA342057511 | FLG | c.6128A>T (p.Gln2043Leu)
| COSMIC |
| 1 | g.152308758T>C | CA1105402 | FLG | c.6128A>G (p.Gln2043Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308758T>G | CA342057514 | FLG | c.6128A>C (p.Gln2043Pro)
| |
| 1 | g.152308758T= | CA1149065768 | FLG | c.6128A= (p.Gln2043=)
| |
| 1 | g.152308759G>A | CA1105403 | FLG | c.6127C>T (p.Gln2043Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152308759G>C | CA342057520 | FLG | c.6127C>G (p.Gln2043Glu)
| |
| 1 | g.152308759G= | CA2479949881 | FLG | c.6127C= (p.Gln2043=)
| |
| 1 | g.152308759G>T | CA342057524 | FLG | c.6127C>A (p.Gln2043Lys)
| |
| 1 | g.152308760A= | CA2479949882 | FLG | c.6126T= (p.Ser2042=)
| |
| 1 | g.152308760A>C | CA342057534 | FLG | c.6126T>G (p.Ser2042Arg)
| |
| 1 | g.152308760A>G | CA1105404 | FLG | c.6126T>C (p.Ser2042=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152308760A>T | CA342057530 | FLG | c.6126T>A (p.Ser2042Arg)
| |
| 1 | g.152308761C>A | CA342057539 | FLG | c.6125G>T (p.Ser2042Ile)
| gnomAD v4 |
| 1 | g.152308761C= | CA2479949884 | FLG | c.6125G= (p.Ser2042=)
| |
| 1 | g.152308761C>G | CA342057540 | FLG | c.6125G>C (p.Ser2042Thr)
| dbSNP gnomAD v4 |
| 1 | g.152308761C>T | CA342057542 | FLG | c.6125G>A (p.Ser2042Asn)
| gnomAD v4 |
| 1 | g.152308762del | CA2647993612 | FLG | c.6124del (p.Ser2042ValfsTer?)
| gnomAD v4 |
| 1 | g.152308762T>A | CA342057545 | FLG | c.6124A>T (p.Ser2042Cys)
| |
| 1 | g.152308762T>C | CA342057547 | FLG | c.6124A>G (p.Ser2042Gly)
| gnomAD v4 |
| 1 | g.152308762T>G | CA342057550 | FLG | c.6124A>C (p.Ser2042Arg)
| |
| 1 | g.152308763A>C | CA420928844 | FLG | c.6123T>G (p.Gly2041=)
| |
| 1 | g.152308763A>G | CA420928842 | FLG | c.6123T>C (p.Gly2041=)
| gnomAD v4 |
| 1 | g.152308763A>T | CA420928840 | FLG | c.6123T>A (p.Gly2041=)
| |
| 1 | g.152308764C>A | CA342057554 | FLG | c.6122G>T (p.Gly2041Val)
| dbSNP gnomAD v4 |
| 1 | g.152308764C>G | CA342057557 | FLG | c.6122G>C (p.Gly2041Ala)
| |
| 1 | g.152308764C>T | CA342057559 | FLG | c.6122G>A (p.Gly2041Asp)
| gnomAD v4 |
| 1 | g.152308765C>A | CA342057563 | FLG | c.6121G>T (p.Gly2041Cys)
| gnomAD v4 |
| 1 | g.152308765C= | CA1148257435 | FLG | c.6121G= (p.Gly2041=)
| |
| 1 | g.152308765C>G | CA1105405 | FLG | c.6121G>C (p.Gly2041Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152308765C>T | CA1105406 | FLG | c.6121G>A (p.Gly2041Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308766A>C | CA342057571 | FLG | c.6120T>G (p.Ser2040Arg)
| |
| 1 | g.152308766A>G | CA420928845 | FLG | c.6120T>C (p.Ser2040=)
| gnomAD v4 |
| 1 | g.152308766A>T | CA342057570 | FLG | c.6120T>A (p.Ser2040Arg)
| gnomAD v4 |
| 1 | g.152308767C>A | CA342057573 | FLG | c.6119G>T (p.Ser2040Ile)
| |
| 1 | g.152308767C= | CA2479949887 | FLG | c.6119G= (p.Ser2040=)
| |
| 1 | g.152308767C>G | CA342057575 | FLG | c.6119G>C (p.Ser2040Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308767C>T | CA342057582 | FLG | c.6119G>A (p.Ser2040Asn)
| gnomAD v4 |
| 1 | g.152308768T>A | CA342057586 | FLG | c.6118A>T (p.Ser2040Cys)
| |
| 1 | g.152308768T>C | CA342057588 | FLG | c.6118A>G (p.Ser2040Gly)
| dbSNP gnomAD v4 |
| 1 | g.152308768T>G | CA342057591 | FLG | c.6118A>C (p.Ser2040Arg)
| gnomAD v4 |
| 1 | g.152308768T= | CA2479949889 | FLG | c.6118A= (p.Ser2040=)
| |
| 1 | g.152308769G>A | CA420928846 | FLG | c.6117C>T (p.Tyr2039=)
| gnomAD v4 |
| 1 | g.152308769G>C | CA1105407 | FLG | c.6117C>G (p.Tyr2039Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308769G= | CA2479949890 | FLG | c.6117C= (p.Tyr2039=)
| |
| 1 | g.152308769G>T | CA342057598 | FLG | c.6117C>A (p.Tyr2039Ter)
| gnomAD v4 |
| 1 | g.152308770T>A | CA342057605 | FLG | c.6116A>T (p.Tyr2039Phe)
| dbSNP |
| 1 | g.152308770T>C | CA342057609 | FLG | c.6116A>G (p.Tyr2039Cys)
| |
| 1 | g.152308770T>G | CA1105408 | FLG | c.6116A>C (p.Tyr2039Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152308770T= | CA1148408519 | FLG | c.6116A= (p.Tyr2039=)
| |
| 1 | g.152308771A= | CA2479949902 | FLG | c.6115T= (p.Tyr2039=)
| |
| 1 | g.152308771A>C | CA342057615 | FLG | c.6115T>G (p.Tyr2039Asp)
| dbSNP |
| 1 | g.152308771A>G | CA1105409 | FLG | c.6115T>C (p.Tyr2039His)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.152308771A>T | CA342057629 | FLG | c.6115T>A (p.Tyr2039Asn)
| gnomAD v4 |
| 1 | g.152308772C>A | CA420928849 | FLG | c.6114G>T (p.Gly2038=)
| dbSNP gnomAD v4 |
| 1 | g.152308772C= | CA2479949903 | FLG | c.6114G= (p.Gly2038=)
| |
| 1 | g.152308772C>G | CA420928850 | FLG | c.6114G>C (p.Gly2038=)
| |
| 1 | g.152308772C>T | CA420928851 | FLG | c.6114G>A (p.Gly2038=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152308773C>A | CA342057641 | FLG | c.6113G>T (p.Gly2038Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152308773C= | CA2479949904 | FLG | c.6113G= (p.Gly2038=)
| |
| 1 | g.152308773C>G | CA342057648 | FLG | c.6113G>C (p.Gly2038Ala)
| dbSNP |
| 1 | g.152308773C>T | CA342057636 | FLG | c.6113G>A (p.Gly2038Glu)
| dbSNP |
| 1 | g.152308774C>A | CA342057661 | FLG | c.6112G>T (p.Gly2038Trp)
| |
| 1 | g.152308774C= | CA2479949905 | FLG | c.6112G= (p.Gly2038=)
| |
| 1 | g.152308774C>G | CA342057654 | FLG | c.6112G>C (p.Gly2038Arg)
| dbSNP gnomAD v4 |
| 1 | g.152308774C>T | CA342057658 | FLG | c.6112G>A (p.Gly2038Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152308775T>A | CA420928854 | FLG | c.6111A>T (p.Arg2037=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152308775T>C | CA420928855 | FLG | c.6111A>G (p.Arg2037=)
| gnomAD v4 |
| 1 | g.152308775T>G | CA420928857 | FLG | c.6111A>C (p.Arg2037=)
| |
| 1 | g.152308775T= | CA2479949906 | FLG | c.6111A= (p.Arg2037=)
| |
| 1 | g.152308776C>A | CA1105411 | FLG | c.6110G>T (p.Arg2037Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308776C= | CA2479949907 | FLG | c.6110G= (p.Arg2037=)
| |
| 1 | g.152308776C>G | CA342057671 | FLG | c.6110G>C (p.Arg2037Pro)
| |
| 1 | g.152308776C>T | CA1105410 | FLG | c.6110G>A (p.Arg2037Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152308777G>A | CA1105412 | FLG | c.6109C>T (p.Arg2037Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308777G>C | CA342057682 | FLG | c.6109C>G (p.Arg2037Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152308777G= | CA1143388702 | FLG | c.6109C= (p.Arg2037=)
| |
| 1 | g.152308777G>T | CA420928858 | FLG | c.6109C>A (p.Arg2037=)
| gnomAD v4 COSMIC |
| 1 | g.152308778G>A | CA420928859 | FLG | c.6108C>T (p.His2036=)
| COSMIC |
| 1 | g.152308778G>C | CA342057691 | FLG | c.6108C>G (p.His2036Gln)
| |
| 1 | g.152308778G= | CA2479949908 | FLG | c.6108C= (p.His2036=)
| |
| 1 | g.152308778G>T | CA1105413 | FLG | c.6108C>A (p.His2036Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308779T>A | CA342057713 | FLG | c.6107A>T (p.His2036Leu)
| |
| 1 | g.152308779T>C | CA342057734 | FLG | c.6107A>G (p.His2036Arg)
| gnomAD v4 |
| 1 | g.152308779T>G | CA342057739 | FLG | c.6107A>C (p.His2036Pro)
| |
| 1 | g.152308780G>A | CA342057744 | FLG | c.6106C>T (p.His2036Tyr)
| |
| 1 | g.152308780G>C | CA342057740 | FLG | c.6106C>G (p.His2036Asp)
| |
| 1 | g.152308780G= | CA2479949909 | FLG | c.6106C= (p.His2036=)
| |
| 1 | g.152308780G>T | CA1105414 | FLG | c.6106C>A (p.His2036Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308781T>A | CA420928861 | FLG | c.6105A>T (p.Gly2035=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152308781T>C | CA420928862 | FLG | c.6105A>G (p.Gly2035=)
| |
| 1 | g.152308781T>G | CA420928863 | FLG | c.6105A>C (p.Gly2035=)
| |
| 1 | g.152308781T= | CA2479949910 | FLG | c.6105A= (p.Gly2035=)
| |
| 1 | g.152308782C>A | CA342057745 | FLG | c.6104G>T (p.Gly2035Val)
| ClinVar |
| 1 | g.152308782C= | CA2479949911 | FLG | c.6104G= (p.Gly2035=)
| |
| 1 | g.152308782C>G | CA342057746 | FLG | c.6104G>C (p.Gly2035Ala)
| |
| 1 | g.152308782C>T | CA342057748 | FLG | c.6104G>A (p.Gly2035Glu)
| dbSNP gnomAD v4 |
| 1 | g.152308783C>A | CA342057751 | FLG | c.6103G>T (p.Gly2035Ter)
| |
| 1 | g.152308783C>G | CA342057752 | FLG | c.6103G>C (p.Gly2035Arg)
| |
| 1 | g.152308783C>T | CA342057753 | FLG | c.6103G>A (p.Gly2035Arg)
| gnomAD v4 |
| 1 | g.152308784A= | CA2479949912 | FLG | c.6102T= (p.Ser2034=)
| |
| 1 | g.152308784A>C | CA342057754 | FLG | c.6102T>G (p.Ser2034Arg)
| |
| 1 | g.152308784A>G | CA1105415 | FLG | c.6102T>C (p.Ser2034=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152308784A>T | CA342057764 | FLG | c.6102T>A (p.Ser2034Arg)
| |
| 1 | g.152308785C>A | CA342057780 | FLG | c.6101G>T (p.Ser2034Ile)
| gnomAD v4 |
| 1 | g.152308785C= | CA1143462455 | FLG | c.6101G= (p.Ser2034=)
| |
| 1 | g.152308785C>G | CA342057786 | FLG | c.6101G>C (p.Ser2034Thr)
| |
| 1 | g.152308785C>T | CA1105416 | FLG | c.6101G>A (p.Ser2034Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308786T>A | CA342057789 | FLG | c.6100A>T (p.Ser2034Cys)
| |
| 1 | g.152308786T>C | CA342057795 | FLG | c.6100A>G (p.Ser2034Gly)
| |
| 1 | g.152308786T>G | CA342057787 | FLG | c.6100A>C (p.Ser2034Arg)
| dbSNP |
| 1 | g.152308786T= | CA2479949913 | FLG | c.6100A= (p.Ser2034=)
| |
| 1 | g.152308787G>A | CA30551230 | FLG | c.6099C>T (p.Asp2033=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152308787G>C | CA1105417 | FLG | c.6099C>G (p.Asp2033Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308787G= | CA1145304354 | FLG | c.6099C= (p.Asp2033=)
| |
| 1 | g.152308787G>T | CA342057804 | FLG | c.6099C>A (p.Asp2033Glu)
| |
| 1 | g.152308788T>A | CA342057812 | FLG | c.6098A>T (p.Asp2033Val)
| |
| 1 | g.152308788T>C | CA342057828 | FLG | c.6098A>G (p.Asp2033Gly)
| gnomAD v4 |
| 1 | g.152308788T>G | CA342057831 | FLG | c.6098A>C (p.Asp2033Ala)
| |
| 1 | g.152308789C>A | CA342057835 | FLG | c.6097G>T (p.Asp2033Tyr)
| |
| 1 | g.152308789C>G | CA342057837 | FLG | c.6097G>C (p.Asp2033His)
| |
| 1 | g.152308789C>T | CA342057839 | FLG | c.6097G>A (p.Asp2033Asn)
| gnomAD v4 |
| 1 | g.152308790T>A | CA342057845 | FLG | c.6096A>T (p.Arg2032Ser)
| |
| 1 | g.152308790T>C | CA420928866 | FLG | c.6096A>G (p.Arg2032=)
| |
| 1 | g.152308790T>G | CA342057851 | FLG | c.6096A>C (p.Arg2032Ser)
| |
| 1 | g.152308791C>A | CA342057855 | FLG | c.6095G>T (p.Arg2032Ile)
| |
| 1 | g.152308791C= | CA2479949914 | FLG | c.6095G= (p.Arg2032=)
| |
| 1 | g.152308791C>G | CA342057857 | FLG | c.6095G>C (p.Arg2032Thr)
| gnomAD v4 |
| 1 | g.152308791C>T | CA342057859 | FLG | c.6095G>A (p.Arg2032Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152308792T>A | CA342057861 | FLG | c.6094A>T (p.Arg2032Ter)
| COSMIC |
| 1 | g.152308792T>C | CA1105418 | FLG | c.6094A>G (p.Arg2032Gly)
| dbSNP ExAC gnomAD v4 |
| 1 | g.152308792T>G | CA420928867 | FLG | c.6094A>C (p.Arg2032=)
| |
| 1 | g.152308792T= | CA2479949915 | FLG | c.6094A= (p.Arg2032=)
| |
| 1 | g.152308793G>A | CA1105419 | FLG | c.6093C>T (p.Val2031=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152308793G>C | CA420928869 | FLG | c.6093C>G (p.Val2031=)
| gnomAD v4 |
| 1 | g.152308793G= | CA2479949916 | FLG | c.6093C= (p.Val2031=)
| |
| 1 | g.152308793G>T | CA420928868 | FLG | c.6093C>A (p.Val2031=)
| dbSNP |
| 1 | g.152308794A>C | CA342057868 | FLG | c.6092T>G (p.Val2031Gly)
| |
| 1 | g.152308794A>G | CA342057869 | FLG | c.6092T>C (p.Val2031Ala)
| gnomAD v4 |
| 1 | g.152308794A>T | CA342057874 | FLG | c.6092T>A (p.Val2031Asp)
| |
| 1 | g.152308795C>A | CA342057884 | FLG | c.6091G>T (p.Val2031Phe)
| gnomAD v4 |
| 1 | g.152308795C= | CA1142160086 | FLG | c.6091G= (p.Val2031=)
| |
| 1 | g.152308795C>G | CA1105421 | FLG | c.6091G>C (p.Val2031Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152308795C>T | CA1105420 | FLG | c.6091G>A (p.Val2031Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308796T>A | CA420928872 | FLG | c.6090A>T (p.Ala2030=)
| gnomAD v4 |
| 1 | g.152308796T>C | CA420928874 | FLG | c.6090A>G (p.Ala2030=)
| dbSNP gnomAD v4 |
| 1 | g.152308796T>G | CA420928875 | FLG | c.6090A>C (p.Ala2030=)
| |
| 1 | g.152308797G>A | CA1105423 | FLG | c.6089C>T (p.Ala2030Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308797G>C | CA342057899 | FLG | c.6089C>G (p.Ala2030Gly)
| |
| 1 | g.152308797G= | CA2479949917 | FLG | c.6089C= (p.Ala2030=)
| |
| 1 | g.152308797G>T | CA1105422 | FLG | c.6089C>A (p.Ala2030Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152308798C>A | CA342057907 | FLG | c.6088G>T (p.Ala2030Ser)
| gnomAD v4 |
| 1 | g.152308798C= | CA2479949918 | FLG | c.6088G= (p.Ala2030=)
| |
| 1 | g.152308798C>G | CA342057908 | FLG | c.6088G>C (p.Ala2030Pro)
| |
| 1 | g.152308798C>T | CA342057911 | FLG | c.6088G>A (p.Ala2030Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152308799A= | CA2479949919 | FLG | c.6087T= (p.Ser2029=)
| |
| 1 | g.152308799A>C | CA420928876 | FLG | c.6087T>G (p.Ser2029=)
| gnomAD v4 |
| 1 | g.152308799A>G | CA420928878 | FLG | c.6087T>C (p.Ser2029=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152308799A>T | CA420928877 | FLG | c.6087T>A (p.Ser2029=)
| |
| 1 | g.152308800G>A | CA342057914 | FLG | c.6086C>T (p.Ser2029Phe)
| gnomAD v4 |
| 1 | g.152308800G>C | CA342057921 | FLG | c.6086C>G (p.Ser2029Cys)
| COSMIC |
| 1 | g.152308800G>T | CA342057920 | FLG | c.6086C>A (p.Ser2029Tyr)
| |
| 1 | g.152308801A>C | CA342057922 | FLG | c.6085T>G (p.Ser2029Ala)
| |
| 1 | g.152308801A>G | CA342057928 | FLG | c.6085T>C (p.Ser2029Pro)
| ClinVar |
| 1 | g.152308801A>T | CA342057924 | FLG | c.6085T>A (p.Ser2029Thr)
| gnomAD v4 |
| 1 | g.152308802T>A | CA420928882 | FLG | c.6084A>T (p.Ser2028=)
| |
| 1 | g.152308802T>C | CA420928883 | FLG | c.6084A>G (p.Ser2028=)
| |
| 1 | g.152308802T>G | CA420928884 | FLG | c.6084A>C (p.Ser2028=)
| COSMIC |
| 1 | g.152308803G>A | CA342057934 | FLG | c.6083C>T (p.Ser2028Leu)
| gnomAD v4 |
| 1 | g.152308803G>C | CA342057947 | FLG | c.6083C>G (p.Ser2028Ter)
| |
| 1 | g.152308803G= | CA2479949920 | FLG | c.6083C= (p.Ser2028=)
| |
| 1 | g.152308803G>T | CA342057940 | FLG | c.6083C>A (p.Ser2028Ter)
| dbSNP gnomAD v4 |
| 1 | g.152308804A>C | CA342057959 | FLG | c.6082T>G (p.Ser2028Ala)
| |
| 1 | g.152308804A>G | CA342057963 | FLG | c.6082T>C (p.Ser2028Pro)
| |
| 1 | g.152308804A>T | CA342057971 | FLG | c.6082T>A (p.Ser2028Thr)
| |
| 1 | g.152308805A= | CA1141983318 | FLG | c.6081T= (p.Ala2027=)
| |
| 1 | g.152308805A>C | CA420928885 | FLG | c.6081T>G (p.Ala2027=)
| |
| 1 | g.152308805A>G | CA30551257 | FLG | c.6081T>C (p.Ala2027=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152308805A>T | CA420928886 | FLG | c.6081T>A (p.Ala2027=)
| gnomAD v4 |
| 1 | g.152308806G>A | CA342057984 | FLG | c.6080C>T (p.Ala2027Val)
| |
| 1 | g.152308806G>C | CA342057989 | FLG | c.6080C>G (p.Ala2027Gly)
| |
| 1 | g.152308806G>T | CA342057995 | FLG | c.6080C>A (p.Ala2027Asp)
| gnomAD v4 |
| 1 | g.152308807C>A | CA342057998 | FLG | c.6079G>T (p.Ala2027Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152308807C= | CA2479949921 | FLG | c.6079G= (p.Ala2027=)
| |
| 1 | g.152308807C>G | CA342058003 | FLG | c.6079G>C (p.Ala2027Pro)
| |
| 1 | g.152308807C>T | CA1105424 | FLG | c.6079G>A (p.Ala2027Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152308808T>A | CA342058011 | FLG | c.6078A>T (p.Gln2026His)
| |
| 1 | g.152308808T>C | CA30551265 | FLG | c.6078A>G (p.Gln2026=)
| dbSNP gnomAD v4 |
| 1 | g.152308808T>G | CA342058034 | FLG | c.6078A>C (p.Gln2026His)
| |
| 1 | g.152308808T= | CA1143455872 | FLG | c.6078A= (p.Gln2026=)
| |
| 1 | g.152308809T>A | CA342058035 | FLG | c.6077A>T (p.Gln2026Leu)
| |
| 1 | g.152308809T>C | CA342058040 | FLG | c.6077A>G (p.Gln2026Arg)
| gnomAD v4 |
| 1 | g.152308809T>G | CA342058036 | FLG | c.6077A>C (p.Gln2026Pro)
| |
| 1 | g.152308810G>A | CA342058046 | FLG | c.6076C>T (p.Gln2026Ter)
| gnomAD v4 |
| 1 | g.152308810G>C | CA342058049 | FLG | c.6076C>G (p.Gln2026Glu)
| |
| 1 | g.152308810G>T | CA342058053 | FLG | c.6076C>A (p.Gln2026Lys)
| gnomAD v4 |
| 1 | g.152308811T>A | CA420928891 | FLG | c.6075A>T (p.Gly2025=)
| |
| 1 | g.152308811T>C | CA420928893 | FLG | c.6075A>G (p.Gly2025=)
| |
| 1 | g.152308811T>G | CA420928894 | FLG | c.6075A>C (p.Gly2025=)
| |
| 1 | g.152308812C>A | CA342058063 | FLG | c.6074G>T (p.Gly2025Val)
| |
| 1 | g.152308812C= | CA1144135076 | FLG | c.6074G= (p.Gly2025=)
| |
| 1 | g.152308812C>G | CA342058070 | FLG | c.6074G>C (p.Gly2025Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152308812C>T | CA1105425 | FLG | c.6074G>A (p.Gly2025Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308812_152308814delinsCCA | CA2479949922 | FLG | c.6072_6074delinsTGG (p.His2024=)
| |
| 1 | g.152308813C>A | CA342058076 | FLG | c.6073G>T (p.Gly2025Ter)
| gnomAD v4 |
| 1 | g.152308813C= | CA1141996259 | FLG | c.6073G= (p.Gly2025=)
| |
| 1 | g.152308813C>G | CA342058090 | FLG | c.6073G>C (p.Gly2025Arg)
| |
| 1 | g.152308813C>T | CA1105426 | FLG | c.6073G>A (p.Gly2025Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308813_152308814del | CA1007764448 | FLG | c.6072_6073del (p.His2024GlnfsTer18)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152308814A= | CA1141188025 | FLG | c.6072T= (p.His2024=)
| |
| 1 | g.152308814A>C | CA342058097 | FLG | c.6072T>G (p.His2024Gln)
| |
| 1 | g.152308814A>G | CA1105427 | FLG | c.6072T>C (p.His2024=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308814A>T | CA342058096 | FLG | c.6072T>A (p.His2024Gln)
| |
| 1 | g.152308815T>A | CA342058099 | FLG | c.6071A>T (p.His2024Leu)
| dbSNP gnomAD v4 |
| 1 | g.152308815T>C | CA342058101 | FLG | c.6071A>G (p.His2024Arg)
| gnomAD v4 |
| 1 | g.152308815T>G | CA342058116 | FLG | c.6071A>C (p.His2024Pro)
| |
| 1 | g.152308815T= | CA2479949923 | FLG | c.6071A= (p.His2024=)
| |
| 1 | g.152308816G>A | CA1105428 | FLG | c.6070C>T (p.His2024Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152308816G>C | CA342058126 | FLG | c.6070C>G (p.His2024Asp)
| dbSNP |
| 1 | g.152308816G= | CA2479949924 | FLG | c.6070C= (p.His2024=)
| |
| 1 | g.152308816G>T | CA342058128 | FLG | c.6070C>A (p.His2024Asn)
| |
| 1 | g.152308816_152308817delinsGC | CA2479949925 | FLG | c.6069_6070delinsGC (p.Gly2023=)
| |
| 1 | g.152308817C>A | CA420928897 | FLG | c.6069G>T (p.Gly2023=)
| |
| 1 | g.152308817C= | CA2479949926 | FLG | c.6069G= (p.Gly2023=)
| |
| 1 | g.152308817C>G | CA420928898 | FLG | c.6069G>C (p.Gly2023=)
| |
| 1 | g.152308817C>T | CA420928899 | FLG | c.6069G>A (p.Gly2023=)
| dbSNP gnomAD v4 |
| 1 | g.152308819del | CA1105429 | FLG | c.6069del (p.His2024MetfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152308818C>A | CA342058160 | FLG | c.6068G>T (p.Gly2023Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152308818C= | CA1148563156 | FLG | c.6068G= (p.Gly2023=)
| |
| 1 | g.152308818C>G | CA342058170 | FLG | c.6068G>C (p.Gly2023Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152308818C>T | CA1105430 | FLG | c.6068G>A (p.Gly2023Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152308819C>A | CA1105431 | FLG | c.6067G>T (p.Gly2023Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308819C= | CA2479949927 | FLG | c.6067G= (p.Gly2023=)
| |
| 1 | g.152308819C>G | CA1105432 | FLG | c.6067G>C (p.Gly2023Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152308819C>T | CA342058190 | FLG | c.6067G>A (p.Gly2023Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152308819_152308820insGG | CA1007764457 | FLG | c.6066_6067insCC (p.Gly2023ProfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152308820A= | CA2479949928 | FLG | c.6066T= (p.Ile2022=)
| |
| 1 | g.152308820A>C | CA342058194 | FLG | c.6066T>G (p.Ile2022Met)
| |
| 1 | g.152308820A>G | CA420928900 | FLG | c.6066T>C (p.Ile2022=)
| dbSNP gnomAD v4 |
| 1 | g.152308820A>T | CA420928901 | FLG | c.6066T>A (p.Ile2022=)
| |
| 1 | g.152308821A= | CA1141876955 | FLG | c.6065T= (p.Ile2022=)
| |
| 1 | g.152308821A>C | CA342058205 | FLG | c.6065T>G (p.Ile2022Ser)
| |
| 1 | g.152308821A>G | CA1105433 | FLG | c.6065T>C (p.Ile2022Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308821A>T | CA1105434 | FLG | c.6065T>A (p.Ile2022Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152308822T>A | CA342058216 | FLG | c.6064A>T (p.Ile2022Phe)
| |
| 1 | g.152308822T>C | CA1105435 | FLG | c.6064A>G (p.Ile2022Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308822T>G | CA1105436 | FLG | c.6064A>C (p.Ile2022Leu)
| dbSNP ExAC gnomAD v2 |
| 1 | g.152308822T= | CA2479949929 | FLG | c.6064A= (p.Ile2022=)
| |
| 1 | g.152308823G>A | CA420928902 | FLG | c.6063C>T (p.Gly2021=)
| COSMIC |
| 1 | g.152308823G>C | CA420928904 | FLG | c.6063C>G (p.Gly2021=)
| |
| 1 | g.152308823G= | CA2479949930 | FLG | c.6063C= (p.Gly2021=)
| |
| 1 | g.152308823G>T | CA420928903 | FLG | c.6063C>A (p.Gly2021=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152308824C>A | CA342058233 | FLG | c.6062G>T (p.Gly2021Val)
| dbSNP |
| 1 | g.152308824C= | CA2479949931 | FLG | c.6062G= (p.Gly2021=)
| |
| 1 | g.152308824C>G | CA342058234 | FLG | c.6062G>C (p.Gly2021Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152308824C>T | CA1105437 | FLG | c.6062G>A (p.Gly2021Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152308825C>A | CA342058238 | FLG | c.6061G>T (p.Gly2021Cys)
| |
| 1 | g.152308825C= | CA1144598423 | FLG | c.6061G= (p.Gly2021=)
| |
| 1 | g.152308825C>G | CA1105438 | FLG | c.6061G>C (p.Gly2021Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308825C>T | CA342058248 | FLG | c.6061G>A (p.Gly2021Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308826T>A | CA420928907 | FLG | c.6060A>T (p.Ser2020=)
| |
| 1 | g.152308826T>C | CA420928908 | FLG | c.6060A>G (p.Ser2020=)
| |
| 1 | g.152308826T>G | CA1105439 | FLG | c.6060A>C (p.Ser2020=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308826T= | CA2479949932 | FLG | c.6060A= (p.Ser2020=)
| |
| 1 | g.152308827G>A | CA342058256 | FLG | c.6059C>T (p.Ser2020Leu)
| |
| 1 | g.152308827G>C | CA342058252 | FLG | c.6059C>G (p.Ser2020Ter)
| |
| 1 | g.152308827G>T | CA342058251 | FLG | c.6059C>A (p.Ser2020Ter)
| gnomAD v4 |
| 1 | g.152308828A= | CA1140122192 | FLG | c.6058T= (p.Ser2020=)
| |
| 1 | g.152308828A>C | CA1105440 | FLG | c.6058T>G (p.Ser2020Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308828A>G | CA342058263 | FLG | c.6058T>C (p.Ser2020Pro)
| dbSNP |
| 1 | g.152308828A>T | CA1105441 | FLG | c.6058T>A (p.Ser2020Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308829G>A | CA1105442 | FLG | c.6057C>T (p.His2019=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308829G>C | CA342058269 | FLG | c.6057C>G (p.His2019Gln)
| |
| 1 | g.152308829G= | CA2479949933 | FLG | c.6057C= (p.His2019=)
| |
| 1 | g.152308829G>T | CA342058272 | FLG | c.6057C>A (p.His2019Gln)
| COSMIC |
| 1 | g.152308830T>A | CA342058276 | FLG | c.6056A>T (p.His2019Leu)
| gnomAD v4 |
| 1 | g.152308830T>C | CA342058279 | FLG | c.6056A>G (p.His2019Arg)
| |
| 1 | g.152308830T>G | CA342058282 | FLG | c.6056A>C (p.His2019Pro)
| dbSNP |
| 1 | g.152308830T= | CA2479949934 | FLG | c.6056A= (p.His2019=)
| |
| 1 | g.152308831G>A | CA342058285 | FLG | c.6055C>T (p.His2019Tyr)
| |
| 1 | g.152308831G>C | CA342058286 | FLG | c.6055C>G (p.His2019Asp)
| gnomAD v4 |
| 1 | g.152308831G= | CA2479949935 | FLG | c.6055C= (p.His2019=)
| |
| 1 | g.152308831G>T | CA342058287 | FLG | c.6055C>A (p.His2019Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152308832T>A | CA342058288 | FLG | c.6054A>T (p.Arg2018Ser)
| |
| 1 | g.152308832T>C | CA420928910 | FLG | c.6054A>G (p.Arg2018=)
| |
| 1 | g.152308832T>G | CA342058291 | FLG | c.6054A>C (p.Arg2018Ser)
| |
| 1 | g.152308832_152308849delinsTCTGGAGCTGTCTGCTGA | CA2479949936 | FLG | c.6037_6054delinsTCAGCAGACAGCTCCAGA (p.Ser2013=)
| |
| 1 | g.152308833C>A | CA1105444 | FLG | c.6053G>T (p.Arg2018Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308833C= | CA1143693671 | FLG | c.6053G= (p.Arg2018=)
| |
| 1 | g.152308833C>G | CA1105445 | FLG | c.6053G>C (p.Arg2018Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308833C>T | CA342058297 | FLG | c.6053G>A (p.Arg2018Lys)
| dbSNP gnomAD v4 COSMIC |
| 1 | g.152308833_152308858delinsCTGGAGCTGTCTGCTGACTGGAGCTG | CA1148869125 | FLG | c.6028_6053delinsCAGCTCCAGTCAGCAGACAGCTCCAG (p.Gln2010=)
| |
| 1 | g.152308842_152308858del | CA1105443 | FLG | c.6037_6053del (p.Ser2013ThrfsTer24)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152308834T>A | CA342058303 | FLG | c.6052A>T (p.Arg2018Ter)
| |
| 1 | g.152308834T>C | CA342058306 | FLG | c.6052A>G (p.Arg2018Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152308834T>G | CA420928911 | FLG | c.6052A>C (p.Arg2018=)
| |
| 1 | g.152308834T= | CA2479949937 | FLG | c.6052A= (p.Arg2018=)
| |
| 1 | g.152308835G>A | CA420928912 | FLG | c.6051C>T (p.Ser2017=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152308835G>C | CA420928914 | FLG | c.6051C>G (p.Ser2017=)
| |
| 1 | g.152308835G>T | CA420928913 | FLG | c.6051C>A (p.Ser2017=)
| |
| 1 | g.152308836G>A | CA342058311 | FLG | c.6050C>T (p.Ser2017Phe)
| |
| 1 | g.152308836G>C | CA342058313 | FLG | c.6050C>G (p.Ser2017Cys)
| |
| 1 | g.152308836G>T | CA342058319 | FLG | c.6050C>A (p.Ser2017Tyr)
| |
| 1 | g.152308837A= | CA2479949938 | FLG | c.6049T= (p.Ser2017=)
| |
| 1 | g.152308837A>C | CA342058327 | FLG | c.6049T>G (p.Ser2017Ala)
| |
| 1 | g.152308837A>G | CA1105446 | FLG | c.6049T>C (p.Ser2017Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152308837A>T | CA342058332 | FLG | c.6049T>A (p.Ser2017Thr)
| |
| 1 | g.152308838G>A | CA1105447 | FLG | c.6048C>T (p.Ser2016=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308838G>C | CA342058336 | FLG | c.6048C>G (p.Ser2016Arg)
| |
| 1 | g.152308838G= | CA2479949939 | FLG | c.6048C= (p.Ser2016=)
| |
| 1 | g.152308838G>T | CA342058339 | FLG | c.6048C>A (p.Ser2016Arg)
| |
| 1 | g.152308839C>A | CA342058365 | FLG | c.6047G>T (p.Ser2016Ile)
| |
| 1 | g.152308839C= | CA2479949940 | FLG | c.6047G= (p.Ser2016=)
| |
| 1 | g.152308839C>G | CA342058372 | FLG | c.6047G>C (p.Ser2016Thr)
| gnomAD v4 |
| 1 | g.152308839C>T | CA342058357 | FLG | c.6047G>A (p.Ser2016Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152308840T>A | CA342058377 | FLG | c.6046A>T (p.Ser2016Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308840T>C | CA1105448 | FLG | c.6046A>G (p.Ser2016Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308840T>G | CA342058388 | FLG | c.6046A>C (p.Ser2016Arg)
| |
| 1 | g.152308840T= | CA1148567099 | FLG | c.6046A= (p.Ser2016=)
| |
| 1 | g.152308841G>A | CA420928915 | FLG | c.6045C>T (p.Asp2015=)
| dbSNP gnomAD v4 |
| 1 | g.152308841G>C | CA342058392 | FLG | c.6045C>G (p.Asp2015Glu)
| |
| 1 | g.152308841G= | CA1140788911 | FLG | c.6045C= (p.Asp2015=)
| |
| 1 | g.152308841G>T | CA1105449 | FLG | c.6045C>A (p.Asp2015Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152308842T>A | CA342058404 | FLG | c.6044A>T (p.Asp2015Val)
| |
| 1 | g.152308842T>C | CA342058400 | FLG | c.6044A>G (p.Asp2015Gly)
| |
| 1 | g.152308842T>G | CA342058397 | FLG | c.6044A>C (p.Asp2015Ala)
| |
| 1 | g.152308843C>A | CA342058406 | FLG | c.6043G>T (p.Asp2015Tyr)
| |
| 1 | g.152308843C>G | CA342058410 | FLG | c.6043G>C (p.Asp2015His)
| |
| 1 | g.152308843C>T | CA342058412 | FLG | c.6043G>A (p.Asp2015Asn)
| |
| 1 | g.152308844T>A | CA420928916 | FLG | c.6042A>T (p.Ala2014=)
| |
| 1 | g.152308844T>C | CA420928917 | FLG | c.6042A>G (p.Ala2014=)
| |
| 1 | g.152308844T>G | CA420928918 | FLG | c.6042A>C (p.Ala2014=)
| |
| 1 | g.152308845G>A | CA342058415 | FLG | c.6041C>T (p.Ala2014Val)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.152308845G>C | CA342058418 | FLG | c.6041C>G (p.Ala2014Gly)
| COSMIC |
| 1 | g.152308845G= | CA2479949941 | FLG | c.6041C= (p.Ala2014=)
| |
| 1 | g.152308845G>T | CA342058420 | FLG | c.6041C>A (p.Ala2014Glu)
| |
| 1 | g.152308846C>A | CA342058424 | FLG | c.6040G>T (p.Ala2014Ser)
| gnomAD v4 |
| 1 | g.152308846C= | CA2479949942 | FLG | c.6040G= (p.Ala2014=)
| |
| 1 | g.152308846C>G | CA342058430 | FLG | c.6040G>C (p.Ala2014Pro)
| ClinVar gnomAD v4 |
| 1 | g.152308846C>T | CA342058427 | FLG | c.6040G>A (p.Ala2014Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152308847T>A | CA1105450 | FLG | c.6039A>T (p.Ser2013=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152308847T>C | CA420928919 | FLG | c.6039A>G (p.Ser2013=)
| |
| 1 | g.152308847T>G | CA420928920 | FLG | c.6039A>C (p.Ser2013=)
| gnomAD v4 |
| 1 | g.152308847T= | CA2479949943 | FLG | c.6039A= (p.Ser2013=)
| |
| 1 | g.152308848G>A | CA342058436 | FLG | c.6038C>T (p.Ser2013Leu)
| dbSNP COSMIC |
| 1 | g.152308848G>C | CA342058438 | FLG | c.6038C>G (p.Ser2013Ter)
| gnomAD v4 COSMIC |
| 1 | g.152308848G= | CA2479949944 | FLG | c.6038C= (p.Ser2013=)
| |
| 1 | g.152308848G>T | CA342058442 | FLG | c.6038C>A (p.Ser2013Ter)
| |
| 1 | g.152308849A= | CA2479949945 | FLG | c.6037T= (p.Ser2013=)
| |
| 1 | g.152308849A>C | CA342058465 | FLG | c.6037T>G (p.Ser2013Ala)
| |
| 1 | g.152308849A>G | CA342058470 | FLG | c.6037T>C (p.Ser2013Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152308849A>T | CA342058472 | FLG | c.6037T>A (p.Ser2013Thr)
| gnomAD v4 |
| 1 | g.152308850C>A | CA342058476 | FLG | c.6036G>T (p.Gln2012His)
| |
| 1 | g.152308850C= | CA2479949947 | FLG | c.6036G= (p.Gln2012=)
| |
| 1 | g.152308850C>G | CA342058477 | FLG | c.6036G>C (p.Gln2012His)
| gnomAD v4 |
| 1 | g.152308850C>T | CA420928921 | FLG | c.6036G>A (p.Gln2012=)
| dbSNP |
| 1 | g.152308850_152308852delinsCTG | CA2479949946 | FLG | c.6034_6036delinsCAG (p.Gln2012=)
| |
| 1 | g.152308851T>A | CA342058479 | FLG | c.6035A>T (p.Gln2012Leu)
| |
| 1 | g.152308851T>C | CA342058481 | FLG | c.6035A>G (p.Gln2012Arg)
| dbSNP |
| 1 | g.152308851T>G | CA342058483 | FLG | c.6035A>C (p.Gln2012Pro)
| dbSNP gnomAD v4 |
| 1 | g.152308851T= | CA2479949948 | FLG | c.6035A= (p.Gln2012=)
| |
| 1 | g.152308851_152308852del | CA526662220 | FLG | c.6034_6035del (p.Gln2012ValfsTer30)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152308851_152308854delinsTGGA | CA2479949949 | FLG | c.6032_6035delinsTCCA (p.Leu2011=)
| |
| 1 | g.152308852G>A | CA342058495 | FLG | c.6034C>T (p.Gln2012Ter)
| ClinVar gnomAD v4 |
| 1 | g.152308852G>C | CA342058499 | FLG | c.6034C>G (p.Gln2012Glu)
| |
| 1 | g.152308852G>T | CA342058502 | FLG | c.6034C>A (p.Gln2012Lys)
| |
| 1 | g.152308853del | CA2574058017 | FLG | c.6034del (p.Gln2012SerfsTer?)
| |
| 1 | g.152308853_152308855del | CA1105451 | FLG | c.6032_6034del (p.Leu2011del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
