1 | g.152307626A>C | CA420928540 | FLG | c.7260T>G (p.Thr2420=)
| |
1 | g.152307626A>G | CA420928541 | FLG | c.7260T>C (p.Thr2420=)
| gnomAD v4 |
1 | g.152307626A>T | CA420928543 | FLG | c.7260T>A (p.Thr2420=)
| |
1 | g.152307627G>A | CA342047651 | FLG | c.7259C>T (p.Thr2420Ile)
| gnomAD v4 |
1 | g.152307627G>C | CA342047652 | FLG | c.7259C>G (p.Thr2420Ser)
| |
1 | g.152307627G>T | CA342047653 | FLG | c.7259C>A (p.Thr2420Asn)
| |
1 | g.152307628T>A | CA342047655 | FLG | c.7258A>T (p.Thr2420Ser)
| |
1 | g.152307628T>C | CA342047657 | FLG | c.7258A>G (p.Thr2420Ala)
| |
1 | g.152307628T>G | CA342047659 | FLG | c.7258A>C (p.Thr2420Pro)
| |
1 | g.152307629G>A | CA420928546 | FLG | c.7257C>T (p.Ser2419=)
| |
1 | g.152307629G>C | CA342047663 | FLG | c.7257C>G (p.Ser2419Arg)
| |
1 | g.152307629G>T | CA342047666 | FLG | c.7257C>A (p.Ser2419Arg)
| |
1 | g.152307630C>A | CA342047671 | FLG | c.7256G>T (p.Ser2419Ile)
| gnomAD v4 |
1 | g.152307630C= | CA2479949238 | FLG | c.7256G= (p.Ser2419=)
| |
1 | g.152307630C>G | CA342047684 | FLG | c.7256G>C (p.Ser2419Thr)
| |
1 | g.152307630C>T | CA342047680 | FLG | c.7256G>A (p.Ser2419Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307631T>A | CA342047687 | FLG | c.7255A>T (p.Ser2419Cys)
| |
1 | g.152307631T>C | CA342047717 | FLG | c.7255A>G (p.Ser2419Gly)
| |
1 | g.152307631T>G | CA342047709 | FLG | c.7255A>C (p.Ser2419Arg)
| |
1 | g.152307632C>A | CA420928549 | FLG | c.7254G>T (p.Val2418=)
| |
1 | g.152307632C= | CA2479949239 | FLG | c.7254G= (p.Val2418=)
| |
1 | g.152307632C>G | CA420928548 | FLG | c.7254G>C (p.Val2418=)
| |
1 | g.152307632C>T | CA420928547 | FLG | c.7254G>A (p.Val2418=)
| dbSNP gnomAD v2 |
1 | g.152307633A>C | CA342047721 | FLG | c.7253T>G (p.Val2418Gly)
| gnomAD v4 |
1 | g.152307633A>G | CA342047722 | FLG | c.7253T>C (p.Val2418Ala)
| |
1 | g.152307633A>T | CA342047723 | FLG | c.7253T>A (p.Val2418Glu)
| |
1 | g.152307634C>A | CA342047725 | FLG | c.7252G>T (p.Val2418Leu)
| |
1 | g.152307634C= | CA1141621045 | FLG | c.7252G= (p.Val2418=)
| |
1 | g.152307634C>G | CA342047728 | FLG | c.7252G>C (p.Val2418Leu)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307634C>T | CA1104827 | FLG | c.7252G>A (p.Val2418Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307635C>A | CA342047739 | FLG | c.7251G>T (p.Gln2417His)
| dbSNP |
1 | g.152307635C= | CA2479949240 | FLG | c.7251G= (p.Gln2417=)
| |
1 | g.152307635C>G | CA342047740 | FLG | c.7251G>C (p.Gln2417His)
| |
1 | g.152307635C>T | CA420928552 | FLG | c.7251G>A (p.Gln2417=)
| gnomAD v4 COSMIC |
1 | g.152307636T>A | CA342047741 | FLG | c.7250A>T (p.Gln2417Leu)
| |
1 | g.152307636T>C | CA342047744 | FLG | c.7250A>G (p.Gln2417Arg)
| |
1 | g.152307636T>G | CA342047746 | FLG | c.7250A>C (p.Gln2417Pro)
| |
1 | g.152307637G>A | CA1104828 | FLG | c.7249C>T (p.Gln2417Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307637G>C | CA342047748 | FLG | c.7249C>G (p.Gln2417Glu)
| |
1 | g.152307637G= | CA1144345931 | FLG | c.7249C= (p.Gln2417=)
| |
1 | g.152307637G>T | CA342047749 | FLG | c.7249C>A (p.Gln2417Lys)
| gnomAD v4 |
1 | g.152307638G>A | CA420928554 | FLG | c.7248C>T (p.Tyr2416=)
| |
1 | g.152307638G>C | CA1104829 | FLG | c.7248C>G (p.Tyr2416Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307638G= | CA2479949241 | FLG | c.7248C= (p.Tyr2416=)
| |
1 | g.152307638G>T | CA342047753 | FLG | c.7248C>A (p.Tyr2416Ter)
| gnomAD v4 |
1 | g.152307639T>A | CA342047757 | FLG | c.7247A>T (p.Tyr2416Phe)
| |
1 | g.152307639T>C | CA342047761 | FLG | c.7247A>G (p.Tyr2416Cys)
| COSMIC |
1 | g.152307639T>G | CA342047781 | FLG | c.7247A>C (p.Tyr2416Ser)
| |
1 | g.152307640A>C | CA342047797 | FLG | c.7246T>G (p.Tyr2416Asp)
| |
1 | g.152307640A>G | CA342047798 | FLG | c.7246T>C (p.Tyr2416His)
| gnomAD v4 |
1 | g.152307640A>T | CA342047799 | FLG | c.7246T>A (p.Tyr2416Asn)
| |
1 | g.152307641G>A | CA1104831 | FLG | c.7245C>T (p.Leu2415=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307641G>C | CA1104830 | FLG | c.7245C>G (p.Leu2415=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307641G= | CA2479949242 | FLG | c.7245C= (p.Leu2415=)
| |
1 | g.152307641G>T | CA420928561 | FLG | c.7245C>A (p.Leu2415=)
| |
1 | g.152307642A= | CA2479949243 | FLG | c.7244T= (p.Leu2415=)
| |
1 | g.152307642A>C | CA342047813 | FLG | c.7244T>G (p.Leu2415Arg)
| |
1 | g.152307642A>G | CA342047815 | FLG | c.7244T>C (p.Leu2415Pro)
| |
1 | g.152307642A>T | CA342047812 | FLG | c.7244T>A (p.Leu2415His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307642_152307643delinsTT | CA645527651 | FLG | c.7243_7244delinsAA (p.Leu2415Asn)
| COSMIC |
1 | g.152307643G>A | CA1104832 | FLG | c.7243C>T (p.Leu2415Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307643G>C | CA342047828 | FLG | c.7243C>G (p.Leu2415Val)
| dbSNP gnomAD v4 |
1 | g.152307643G= | CA2479949244 | FLG | c.7243C= (p.Leu2415=)
| |
1 | g.152307643G>T | CA342047832 | FLG | c.7243C>A (p.Leu2415Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307644G>A | CA420928568 | FLG | c.7242C>T (p.Phe2414=)
| gnomAD v4 |
1 | g.152307644G>C | CA342047836 | FLG | c.7242C>G (p.Phe2414Leu)
| |
1 | g.152307644G>T | CA342047838 | FLG | c.7242C>A (p.Phe2414Leu)
| gnomAD v4 |
1 | g.152307645A= | CA2479949245 | FLG | c.7241T= (p.Phe2414=)
| |
1 | g.152307645A>C | CA342047869 | FLG | c.7241T>G (p.Phe2414Cys)
| |
1 | g.152307645A>G | CA1104833 | FLG | c.7241T>C (p.Phe2414Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.152307645A>T | CA342047858 | FLG | c.7241T>A (p.Phe2414Tyr)
| |
1 | g.152307646A= | CA2479949246 | FLG | c.7240T= (p.Phe2414=)
| |
1 | g.152307646A>C | CA342047873 | FLG | c.7240T>G (p.Phe2414Val)
| |
1 | g.152307646A>G | CA342047876 | FLG | c.7240T>C (p.Phe2414Leu)
| dbSNP gnomAD v4 |
1 | g.152307646A>T | CA1104834 | FLG | c.7240T>A (p.Phe2414Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307647A= | CA2479949247 | FLG | c.7239T= (p.Ser2413=)
| |
1 | g.152307647A>C | CA420928578 | FLG | c.7239T>G (p.Ser2413=)
| |
1 | g.152307647A>G | CA420928579 | FLG | c.7239T>C (p.Ser2413=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307647A>T | CA420928577 | FLG | c.7239T>A (p.Ser2413=)
| |
1 | g.152307648G>A | CA342047877 | FLG | c.7238C>T (p.Ser2413Phe)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.152307648G>C | CA342047879 | FLG | c.7238C>G (p.Ser2413Cys)
| |
1 | g.152307648G= | CA2479949248 | FLG | c.7238C= (p.Ser2413=)
| |
1 | g.152307648G>T | CA342047881 | FLG | c.7238C>A (p.Ser2413Tyr)
| gnomAD v4 |
1 | g.152307649A= | CA2479949250 | FLG | c.7237T= (p.Ser2413=)
| |
1 | g.152307649A>C | CA342047891 | FLG | c.7237T>G (p.Ser2413Ala)
| |
1 | g.152307649A>G | CA342047895 | FLG | c.7237T>C (p.Ser2413Pro)
| |
1 | g.152307649A>T | CA342047892 | FLG | c.7237T>A (p.Ser2413Thr)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307649_152307658delinsACCCTGAACG | CA2479949249 | FLG | c.7228_7237delinsCGTTCAGGGT (p.Arg2410=)
| |
1 | g.152307650C>A | CA420928589 | FLG | c.7236G>T (p.Gly2412=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307650C= | CA2479949251 | FLG | c.7236G= (p.Gly2412=)
| |
1 | g.152307650C>G | CA420928590 | FLG | c.7236G>C (p.Gly2412=)
| gnomAD v4 |
1 | g.152307650C>T | CA1104836 | FLG | c.7236G>A (p.Gly2412=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152307650_152307658del | CA1104835 | FLG | c.7228_7236del (p.Arg2410_Gly2412del)
| dbSNP ExAC |
1 | g.152307651C>A | CA342047899 | FLG | c.7235G>T (p.Gly2412Val)
| |
1 | g.152307651C= | CA2479949252 | FLG | c.7235G= (p.Gly2412=)
| |
1 | g.152307651C>G | CA342047901 | FLG | c.7235G>C (p.Gly2412Ala)
| |
1 | g.152307651C>T | CA342047904 | FLG | c.7235G>A (p.Gly2412Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307652C>A | CA342047908 | FLG | c.7234G>T (p.Gly2412Trp)
| |
1 | g.152307652C>G | CA342047909 | FLG | c.7234G>C (p.Gly2412Arg)
| |
1 | g.152307652C>T | CA342047910 | FLG | c.7234G>A (p.Gly2412Arg)
| |
1 | g.152307653T>A | CA420928603 | FLG | c.7233A>T (p.Ser2411=)
| |
1 | g.152307653T>C | CA420928605 | FLG | c.7233A>G (p.Ser2411=)
| |
1 | g.152307653T>G | CA1104837 | FLG | c.7233A>C (p.Ser2411=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307653T= | CA2479949253 | FLG | c.7233A= (p.Ser2411=)
| |
1 | g.152307654G>A | CA342047916 | FLG | c.7232C>T (p.Ser2411Leu)
| |
1 | g.152307654G>C | CA342047917 | FLG | c.7232C>G (p.Ser2411Ter)
| |
1 | g.152307654G>T | CA342047918 | FLG | c.7232C>A (p.Ser2411Ter)
| |
1 | g.152307655A= | CA2479949254 | FLG | c.7231T= (p.Ser2411=)
| |
1 | g.152307655A>C | CA342047925 | FLG | c.7231T>G (p.Ser2411Ala)
| |
1 | g.152307655A>G | CA30547938 | FLG | c.7231T>C (p.Ser2411Pro)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307655A>T | CA342047920 | FLG | c.7231T>A (p.Ser2411Thr)
| |
1 | g.152307656A>C | CA420928612 | FLG | c.7230T>G (p.Arg2410=)
| |
1 | g.152307656A>G | CA420928613 | FLG | c.7230T>C (p.Arg2410=)
| |
1 | g.152307656A>T | CA420928614 | FLG | c.7230T>A (p.Arg2410=)
| |
1 | g.152307657C>A | CA1104839 | FLG | c.7229G>T (p.Arg2410Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307657C= | CA1143500266 | FLG | c.7229G= (p.Arg2410=)
| |
1 | g.152307657C>G | CA342047934 | FLG | c.7229G>C (p.Arg2410Pro)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307657C>T | CA1104838 | FLG | c.7229G>A (p.Arg2410His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152307658G>A | CA1104840 | FLG | c.7228C>T (p.Arg2410Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152307658G>C | CA342047957 | FLG | c.7228C>G (p.Arg2410Gly)
| gnomAD v4 |
1 | g.152307658G= | CA1141818272 | FLG | c.7228C= (p.Arg2410=)
| |
1 | g.152307658G>T | CA342047953 | FLG | c.7228C>A (p.Arg2410Ser)
| |
1 | g.152307659T>A | CA420928619 | FLG | c.7227A>T (p.Gly2409=)
| |
1 | g.152307659T>C | CA420928626 | FLG | c.7227A>G (p.Gly2409=)
| |
1 | g.152307659T>G | CA420928622 | FLG | c.7227A>C (p.Gly2409=)
| dbSNP gnomAD v4 |
1 | g.152307659T= | CA2479949255 | FLG | c.7227A= (p.Gly2409=)
| |
1 | g.152307660C>A | CA342047961 | FLG | c.7226G>T (p.Gly2409Val)
| |
1 | g.152307660C= | CA2479949257 | FLG | c.7226G= (p.Gly2409=)
| |
1 | g.152307660C>G | CA342047968 | FLG | c.7226G>C (p.Gly2409Ala)
| gnomAD v4 |
1 | g.152307660C>T | CA342047963 | FLG | c.7226G>A (p.Gly2409Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307661dup | CA2479949256 | FLG | c.7226dup (p.Arg2410ThrfsTer13)
| dbSNP |
1 | g.152307660_152307661insT | CA2647993477 | FLG | c.7225_7226insA (p.Gly2409GlufsTer14)
| gnomAD v4 |
1 | g.152307661C>A | CA342047970 | FLG | c.7225G>T (p.Gly2409Ter)
| |
1 | g.152307661C>G | CA342047977 | FLG | c.7225G>C (p.Gly2409Arg)
| gnomAD v4 |
1 | g.152307661C>T | CA342047974 | FLG | c.7225G>A (p.Gly2409Arg)
| gnomAD v4 |
1 | g.152307662_152307760del | CA1104841 | FLG | c.7127_7225del (p.Glu2376_Ser2408del)
| ExAC |
1 | g.152307662A= | CA2479949258 | FLG | c.7224T= (p.Ser2408=)
| |
1 | g.152307662A>C | CA420928630 | FLG | c.7224T>G (p.Ser2408=)
| |
1 | g.152307662A>G | CA420928631 | FLG | c.7224T>C (p.Ser2408=)
| |
1 | g.152307662A>T | CA420928634 | FLG | c.7224T>A (p.Ser2408=)
| |
1 | g.152307662_152307663insAGAGGGTCAG | CA2479949259 | FLG | c.7223_7224insCTGACCCTCT (p.Gly2409Ter)
| dbSNP |
1 | g.152307663G>A | CA1104842 | FLG | c.7223C>T (p.Ser2408Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307663G>C | CA342047978 | FLG | c.7223C>G (p.Ser2408Cys)
| gnomAD v4 |
1 | g.152307663G= | CA1143756793 | FLG | c.7223C= (p.Ser2408=)
| |
1 | g.152307663G>T | CA342047979 | FLG | c.7223C>A (p.Ser2408Tyr)
| |
1 | g.152307664A>C | CA342047982 | FLG | c.7222T>G (p.Ser2408Ala)
| |
1 | g.152307664A>G | CA342047995 | FLG | c.7222T>C (p.Ser2408Pro)
| |
1 | g.152307664A>T | CA342048003 | FLG | c.7222T>A (p.Ser2408Thr)
| |
1 | g.152307665C>A | CA342048012 | FLG | c.7221G>T (p.Arg2407Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307665C= | CA2479949260 | FLG | c.7221G= (p.Arg2407=)
| |
1 | g.152307665C>G | CA342048013 | FLG | c.7221G>C (p.Arg2407Ser)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152307665C>T | CA420928643 | FLG | c.7221G>A (p.Arg2407=)
| gnomAD v4 |
1 | g.152307665_152307666insG | CA1104843 | FLG | c.7220_7221insC (p.Arg2407SerfsTer16)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307666C>A | CA342048022 | FLG | c.7220G>T (p.Arg2407Met)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307666C= | CA1147399876 | FLG | c.7220G= (p.Arg2407=)
| |
1 | g.152307666C>G | CA1104844 | FLG | c.7220G>C (p.Arg2407Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307666C>T | CA1104845 | FLG | c.7220G>A (p.Arg2407Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307666_152307667insG | CA1007766356 | FLG | c.7219_7220insC (p.Arg2407ThrfsTer16)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307667T>A | CA342048030 | FLG | c.7219A>T (p.Arg2407Trp)
| |
1 | g.152307667T>C | CA342048032 | FLG | c.7219A>G (p.Arg2407Gly)
| |
1 | g.152307667T>G | CA420928650 | FLG | c.7219A>C (p.Arg2407=)
| dbSNP |
1 | g.152307667T= | CA2479949261 | FLG | c.7219A= (p.Arg2407=)
| |
1 | g.152307668T>A | CA420928656 | FLG | c.7218A>T (p.Gly2406=)
| |
1 | g.152307668T>C | CA420928654 | FLG | c.7218A>G (p.Gly2406=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307668T>G | CA420928651 | FLG | c.7218A>C (p.Gly2406=)
| |
1 | g.152307668T= | CA2479949262 | FLG | c.7218A= (p.Gly2406=)
| |
1 | g.152307668_152307669insTC | CA1104846 | FLG | c.7217_7218insGA (p.Arg2407LysfsTer13)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307668_152307669insTCC | CA1104847 | FLG | c.7217_7218insGGA (p.Gly2406_Arg2407insGlu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307669C>A | CA342048038 | FLG | c.7217G>T (p.Gly2406Val)
| |
1 | g.152307669C= | CA1144533839 | FLG | c.7217G= (p.Gly2406=)
| |
1 | g.152307669C>G | CA342048039 | FLG | c.7217G>C (p.Gly2406Ala)
| |
1 | g.152307669C>T | CA1104848 | FLG | c.7217G>A (p.Gly2406Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307670C>A | CA342048041 | FLG | c.7216G>T (p.Gly2406Ter)
| |
1 | g.152307670C= | CA2479949264 | FLG | c.7216G= (p.Gly2406=)
| |
1 | g.152307670C>G | CA342048043 | FLG | c.7216G>C (p.Gly2406Arg)
| |
1 | g.152307670C>T | CA342048047 | FLG | c.7216G>A (p.Gly2406Arg)
| dbSNP gnomAD v4 |
1 | g.152307670_152307671delinsCT | CA2479949263 | FLG | c.7215_7216delinsAG (p.Ala2405=)
| |
1 | g.152307670_152307672delinsCTG | CA2479949265 | FLG | c.7214_7216delinsCAG (p.Ala2405=)
| |
1 | g.152307671del | CA1007766366 | FLG | c.7215del (p.Gly2406GlufsTer13)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307671T>A | CA420928665 | FLG | c.7215A>T (p.Ala2405=)
| |
1 | g.152307671T>C | CA1104850 | FLG | c.7215A>G (p.Ala2405=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307671T>G | CA420928666 | FLG | c.7215A>C (p.Ala2405=)
| |
1 | g.152307671T= | CA1146022596 | FLG | c.7215A= (p.Ala2405=)
| |
1 | g.152307671_152307672del | CA1104849 | FLG | c.7214_7215del (p.Ala2405GlyfsTer17)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307672G>A | CA342048066 | FLG | c.7214C>T (p.Ala2405Val)
| |
1 | g.152307672G>C | CA1104851 | FLG | c.7214C>G (p.Ala2405Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307672G= | CA1147558380 | FLG | c.7214C= (p.Ala2405=)
| |
1 | g.152307672G>T | CA342048059 | FLG | c.7214C>A (p.Ala2405Glu)
| dbSNP gnomAD v4 |
1 | g.152307673C>A | CA342048078 | FLG | c.7213G>T (p.Ala2405Ser)
| |
1 | g.152307673C>G | CA342048082 | FLG | c.7213G>C (p.Ala2405Pro)
| |
1 | g.152307673C>T | CA342048086 | FLG | c.7213G>A (p.Ala2405Thr)
| |
1 | g.152307674T>A | CA420928675 | FLG | c.7212A>T (p.Ser2404=)
| |
1 | g.152307674T>C | CA420928676 | FLG | c.7212A>G (p.Ser2404=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307674T>G | CA420928677 | FLG | c.7212A>C (p.Ser2404=)
| |
1 | g.152307674T= | CA2479949266 | FLG | c.7212A= (p.Ser2404=)
| |
1 | g.152307675G>A | CA342048089 | FLG | c.7211C>T (p.Ser2404Leu)
| |
1 | g.152307675G>C | CA1104852 | FLG | c.7211C>G (p.Ser2404Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307675G= | CA1144074766 | FLG | c.7211C= (p.Ser2404=)
| |
1 | g.152307675G>T | CA1104853 | FLG | c.7211C>A (p.Ser2404Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.152307676A>C | CA342048099 | FLG | c.7210T>G (p.Ser2404Ala)
| |
1 | g.152307676A>G | CA342048100 | FLG | c.7210T>C (p.Ser2404Pro)
| |
1 | g.152307676A>T | CA342048101 | FLG | c.7210T>A (p.Ser2404Thr)
| |
1 | g.152307677C>A | CA420928686 | FLG | c.7209G>T (p.Arg2403=)
| gnomAD v4 |
1 | g.152307677C>G | CA420928688 | FLG | c.7209G>C (p.Arg2403=)
| |
1 | g.152307677C>T | CA420928689 | FLG | c.7209G>A (p.Arg2403=)
| |
1 | g.152307678C>A | CA342048104 | FLG | c.7208G>T (p.Arg2403Leu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307678C= | CA1143593869 | FLG | c.7208G= (p.Arg2403=)
| |
1 | g.152307678C>G | CA1104855 | FLG | c.7208G>C (p.Arg2403Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307678C>T | CA1104854 | FLG | c.7208G>A (p.Arg2403Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307679G>A | CA1104856 | FLG | c.7207C>T (p.Arg2403Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307679G>C | CA342048112 | FLG | c.7207C>G (p.Arg2403Gly)
| gnomAD v4 |
1 | g.152307679G= | CA1143873216 | FLG | c.7207C= (p.Arg2403=)
| |
1 | g.152307679G>T | CA420928693 | FLG | c.7207C>A (p.Arg2403=)
| COSMIC |
1 | g.152307680G>A | CA420928694 | FLG | c.7206C>T (p.Gly2402=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307680G>C | CA420928698 | FLG | c.7206C>G (p.Gly2402=)
| |
1 | g.152307680G= | CA2479949267 | FLG | c.7206C= (p.Gly2402=)
| |
1 | g.152307680G>T | CA420928701 | FLG | c.7206C>A (p.Gly2402=)
| |
1 | g.152307681C>A | CA342048123 | FLG | c.7205G>T (p.Gly2402Val)
| |
1 | g.152307681C= | CA2479949268 | FLG | c.7205G= (p.Gly2402=)
| |
1 | g.152307681C>G | CA342048128 | FLG | c.7205G>C (p.Gly2402Ala)
| |
1 | g.152307681C>T | CA1104857 | FLG | c.7205G>A (p.Gly2402Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307682C>A | CA342048136 | FLG | c.7204G>T (p.Gly2402Cys)
| |
1 | g.152307682C>G | CA342048141 | FLG | c.7204G>C (p.Gly2402Arg)
| |
1 | g.152307682C>T | CA342048143 | FLG | c.7204G>A (p.Gly2402Ser)
| |
1 | g.152307683A= | CA2479949269 | FLG | c.7203T= (p.Arg2401=)
| |
1 | g.152307683A>C | CA420928712 | FLG | c.7203T>G (p.Arg2401=)
| |
1 | g.152307683A>G | CA420928715 | FLG | c.7203T>C (p.Arg2401=)
| dbSNP |
1 | g.152307683A>T | CA420928717 | FLG | c.7203T>A (p.Arg2401=)
| |
1 | g.152307684C>A | CA342048146 | FLG | c.7202G>T (p.Arg2401Leu)
| dbSNP |
1 | g.152307684C= | CA2479949270 | FLG | c.7202G= (p.Arg2401=)
| |
1 | g.152307684C>G | CA1104858 | FLG | c.7202G>C (p.Arg2401Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307684C>T | CA1104859 | FLG | c.7202G>A (p.Arg2401His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152307685G>A | CA1104860 | FLG | c.7201C>T (p.Arg2401Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152307685G>C | CA342048147 | FLG | c.7201C>G (p.Arg2401Gly)
| |
1 | g.152307685G= | CA1146233142 | FLG | c.7201C= (p.Arg2401=)
| |
1 | g.152307685G>T | CA1104861 | FLG | c.7201C>A (p.Arg2401Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307686T>A | CA420928728 | FLG | c.7200A>T (p.Thr2400=)
| |
1 | g.152307686T>C | CA420928729 | FLG | c.7200A>G (p.Thr2400=)
| |
1 | g.152307686T>G | CA420928732 | FLG | c.7200A>C (p.Thr2400=)
| |
1 | g.152307687G>A | CA342048164 | FLG | c.7199C>T (p.Thr2400Ile)
| |
1 | g.152307687G>C | CA342048158 | FLG | c.7199C>G (p.Thr2400Arg)
| |
1 | g.152307687G= | CA2479949271 | FLG | c.7199C= (p.Thr2400=)
| |
1 | g.152307687G>T | CA342048150 | FLG | c.7199C>A (p.Thr2400Lys)
| dbSNP gnomAD v4 |
1 | g.152307688T>A | CA342048169 | FLG | c.7198A>T (p.Thr2400Ser)
| |
1 | g.152307688T>C | CA1104862 | FLG | c.7198A>G (p.Thr2400Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307688T>G | CA342048172 | FLG | c.7198A>C (p.Thr2400Pro)
| |
1 | g.152307688T= | CA1143431214 | FLG | c.7198A= (p.Thr2400=)
| |
1 | g.152307689G>A | CA420928744 | FLG | c.7197C>T (p.Ser2399=)
| gnomAD v3 gnomAD v4 |
1 | g.152307689G>C | CA420928750 | FLG | c.7197C>G (p.Ser2399=)
| gnomAD v4 |
1 | g.152307689G>T | CA420928747 | FLG | c.7197C>A (p.Ser2399=)
| gnomAD v4 |
1 | g.152307690G>A | CA342048182 | FLG | c.7196C>T (p.Ser2399Phe)
| |
1 | g.152307690G>C | CA342048190 | FLG | c.7196C>G (p.Ser2399Cys)
| dbSNP gnomAD v4 |
1 | g.152307690G= | CA2479949272 | FLG | c.7196C= (p.Ser2399=)
| |
1 | g.152307690G>T | CA342048193 | FLG | c.7196C>A (p.Ser2399Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307691del | CA2647993479 | FLG | c.7195del (p.Ser2399ProfsTer20)
| gnomAD v4 |
1 | g.152307691A= | CA2479949273 | FLG | c.7195T= (p.Ser2399=)
| |
1 | g.152307691A>C | CA342048197 | FLG | c.7195T>G (p.Ser2399Ala)
| |
1 | g.152307691A>G | CA342048200 | FLG | c.7195T>C (p.Ser2399Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307691A>T | CA342048203 | FLG | c.7195T>A (p.Ser2399Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307691_152307692insAGACAAGGAT | CA2548869422 | FLG | c.7194_7195insATCCTTGTCT (p.Ser2399IlefsTer27)
| |
1 | g.152307692del | CA1007766385 | FLG | c.7194del (p.Glu2398AspfsTer21)
| gnomAD v3 gnomAD v4 |
1 | g.152307692C>A | CA342048206 | FLG | c.7194G>T (p.Glu2398Asp)
| |
1 | g.152307692C>G | CA342048208 | FLG | c.7194G>C (p.Glu2398Asp)
| |
1 | g.152307692C>T | CA420928756 | FLG | c.7194G>A (p.Glu2398=)
| |
1 | g.152307693T>A | CA342048210 | FLG | c.7193A>T (p.Glu2398Val)
| gnomAD v4 |
1 | g.152307693T>C | CA342048218 | FLG | c.7193A>G (p.Glu2398Gly)
| |
1 | g.152307693T>G | CA342048219 | FLG | c.7193A>C (p.Glu2398Ala)
| |
1 | g.152307694C>A | CA342048223 | FLG | c.7192G>T (p.Glu2398Ter)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307694C= | CA1140788909 | FLG | c.7192G= (p.Glu2398=)
| |
1 | g.152307694C>G | CA1104863 | FLG | c.7192G>C (p.Glu2398Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307694C>T | CA342048222 | FLG | c.7192G>A (p.Glu2398Lys)
| dbSNP gnomAD v2 |
1 | g.152307695T>A | CA342048224 | FLG | c.7191A>T (p.Gln2397His)
| |
1 | g.152307695T>C | CA420928762 | FLG | c.7191A>G (p.Gln2397=)
| dbSNP gnomAD v4 |
1 | g.152307695T>G | CA342048225 | FLG | c.7191A>C (p.Gln2397His)
| |
1 | g.152307695T= | CA2479949274 | FLG | c.7191A= (p.Gln2397=)
| |
1 | g.152307696T>A | CA342048228 | FLG | c.7190A>T (p.Gln2397Leu)
| |
1 | g.152307696T>C | CA342048231 | FLG | c.7190A>G (p.Gln2397Arg)
| gnomAD v3 gnomAD v4 |
1 | g.152307696T>G | CA342048234 | FLG | c.7190A>C (p.Gln2397Pro)
| |
1 | g.152307697G>A | CA1104864 | FLG | c.7189C>T (p.Gln2397Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307697G>C | CA1104865 | FLG | c.7189C>G (p.Gln2397Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307697G= | CA1144846906 | FLG | c.7189C= (p.Gln2397=)
| |
1 | g.152307697G>T | CA342048241 | FLG | c.7189C>A (p.Gln2397Lys)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307698G>A | CA420928776 | FLG | c.7188C>T (p.His2396=)
| dbSNP gnomAD v4 |
1 | g.152307698G>C | CA342048245 | FLG | c.7188C>G (p.His2396Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307698G= | CA2479949275 | FLG | c.7188C= (p.His2396=)
| |
1 | g.152307698G>T | CA342048246 | FLG | c.7188C>A (p.His2396Gln)
| gnomAD v4 |
1 | g.152307699T>A | CA342048253 | FLG | c.7187A>T (p.His2396Leu)
| |
1 | g.152307699T>C | CA342048256 | FLG | c.7187A>G (p.His2396Arg)
| COSMIC |
1 | g.152307699T>G | CA342048250 | FLG | c.7187A>C (p.His2396Pro)
| |
1 | g.152307700G>A | CA342048259 | FLG | c.7186C>T (p.His2396Tyr)
| |
1 | g.152307700G>C | CA342048266 | FLG | c.7186C>G (p.His2396Asp)
| |
1 | g.152307700G>T | CA342048275 | FLG | c.7186C>A (p.His2396Asn)
| |
1 | g.152307701G>A | CA1104866 | FLG | c.7185C>T (p.Ser2395=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307701G>C | CA342048281 | FLG | c.7185C>G (p.Ser2395Arg)
| |
1 | g.152307701G= | CA2479949276 | FLG | c.7185C= (p.Ser2395=)
| |
1 | g.152307701G>T | CA342048283 | FLG | c.7185C>A (p.Ser2395Arg)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307702del | CA1007766391 | FLG | c.7184del (p.Ser2395ThrfsTer24)
| gnomAD v3 gnomAD v4 |
1 | g.152307702C>A | CA342048289 | FLG | c.7184G>T (p.Ser2395Ile)
| |
1 | g.152307702C>G | CA342048287 | FLG | c.7184G>C (p.Ser2395Thr)
| |
1 | g.152307702C>T | CA342048288 | FLG | c.7184G>A (p.Ser2395Asn)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307703T>A | CA342048290 | FLG | c.7183A>T (p.Ser2395Cys)
| |
1 | g.152307703T>C | CA342048292 | FLG | c.7183A>G (p.Ser2395Gly)
| |
1 | g.152307703T>G | CA342048296 | FLG | c.7183A>C (p.Ser2395Arg)
| |
1 | g.152307704C>A | CA342048303 | FLG | c.7182G>T (p.Gln2394His)
| |
1 | g.152307704C= | CA2479949277 | FLG | c.7182G= (p.Gln2394=)
| |
1 | g.152307704C>G | CA342048304 | FLG | c.7182G>C (p.Gln2394His)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307704C>T | CA420928799 | FLG | c.7182G>A (p.Gln2394=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307705del | CA1007766396 | FLG | c.7181del (p.Gln2394ArgfsTer25)
| gnomAD v3 gnomAD v4 |
1 | g.152307705T>A | CA1104869 | FLG | c.7181A>T (p.Gln2394Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307705T>C | CA1104867 | FLG | c.7181A>G (p.Gln2394Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307705T>G | CA1104868 | FLG | c.7181A>C (p.Gln2394Pro)
| dbSNP ExAC gnomAD v2 |
1 | g.152307705T= | CA2479949278 | FLG | c.7181A= (p.Gln2394=)
| |
1 | g.152307706G>A | CA342048310 | FLG | c.7180C>T (p.Gln2394Ter)
| gnomAD v4 |
1 | g.152307706G>C | CA342048311 | FLG | c.7180C>G (p.Gln2394Glu)
| gnomAD v4 |
1 | g.152307706G>T | CA342048314 | FLG | c.7180C>A (p.Gln2394Lys)
| |
1 | g.152307707C>A | CA342048321 | FLG | c.7179G>T (p.Gln2393His)
| |
1 | g.152307707C= | CA2479949279 | FLG | c.7179G= (p.Gln2393=)
| |
1 | g.152307707C>G | CA342048326 | FLG | c.7179G>C (p.Gln2393His)
| |
1 | g.152307707C>T | CA1104870 | FLG | c.7179G>A (p.Gln2393=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307708T>A | CA342048330 | FLG | c.7178A>T (p.Gln2393Leu)
| gnomAD v4 |
1 | g.152307708T>C | CA342048337 | FLG | c.7178A>G (p.Gln2393Arg)
| gnomAD v3 gnomAD v4 |
1 | g.152307708T>G | CA342048338 | FLG | c.7178A>C (p.Gln2393Pro)
| |
1 | g.152307709G>A | CA342048344 | FLG | c.7177C>T (p.Gln2393Ter)
| |
1 | g.152307709G>C | CA342048345 | FLG | c.7177C>G (p.Gln2393Glu)
| |
1 | g.152307709G= | CA1146357911 | FLG | c.7177C= (p.Gln2393=)
| |
1 | g.152307709G>T | CA1104871 | FLG | c.7177C>A (p.Gln2393Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307709_152307710insT | CA1007766399 | FLG | c.7176_7177insA (p.Gln2393ThrfsTer30)
| gnomAD v3 gnomAD v4 |
1 | g.152307710A= | CA2479949280 | FLG | c.7176T= (p.His2392=)
| |
1 | g.152307710A>C | CA342048346 | FLG | c.7176T>G (p.His2392Gln)
| |
1 | g.152307710A>G | CA420928815 | FLG | c.7176T>C (p.His2392=)
| |
1 | g.152307710A>T | CA342048347 | FLG | c.7176T>A (p.His2392Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307711T>A | CA342048352 | FLG | c.7175A>T (p.His2392Leu)
| |
1 | g.152307711T>C | CA342048357 | FLG | c.7175A>G (p.His2392Arg)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307711T>G | CA342048354 | FLG | c.7175A>C (p.His2392Pro)
| dbSNP |
1 | g.152307711T= | CA2479949281 | FLG | c.7175A= (p.His2392=)
| |
1 | g.152307712G>A | CA342048358 | FLG | c.7174C>T (p.His2392Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307712G>C | CA342048359 | FLG | c.7174C>G (p.His2392Asp)
| |
1 | g.152307712G= | CA2479949282 | FLG | c.7174C= (p.His2392=)
| |
1 | g.152307712G>T | CA342048360 | FLG | c.7174C>A (p.His2392Asn)
| |
1 | g.152307712_152307717del | CA1007766403 | FLG | c.7169_7174del (p.Gly2390_His2392delinsAsp)
| gnomAD v3 gnomAD v4 |
1 | g.152307713G>A | CA420928236 | FLG | c.7173C>T (p.Pro2391=)
| |
1 | g.152307713G>C | CA420928238 | FLG | c.7173C>G (p.Pro2391=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307713G= | CA2479949283 | FLG | c.7173C= (p.Pro2391=)
| |
1 | g.152307713G>T | CA420928240 | FLG | c.7173C>A (p.Pro2391=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307714G>A | CA342049105 | FLG | c.7172C>T (p.Pro2391Leu)
| |
1 | g.152307714G>C | CA342049108 | FLG | c.7172C>G (p.Pro2391Arg)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307714G= | CA2479949284 | FLG | c.7172C= (p.Pro2391=)
| |
1 | g.152307714G>T | CA342049110 | FLG | c.7172C>A (p.Pro2391His)
| gnomAD v4 |
1 | g.152307715G>A | CA1104872 | FLG | c.7171C>T (p.Pro2391Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307715G>C | CA342049114 | FLG | c.7171C>G (p.Pro2391Ala)
| dbSNP gnomAD v2 |
1 | g.152307715G= | CA1143392504 | FLG | c.7171C= (p.Pro2391=)
| |
1 | g.152307715G>T | CA342049117 | FLG | c.7171C>A (p.Pro2391Thr)
| |
1 | g.152307715_152307716delinsGC | CA2479949285 | FLG | c.7170_7171delinsGC (p.Gly2390=)
| |
1 | g.152307716C>A | CA420928241 | FLG | c.7170G>T (p.Gly2390=)
| |
1 | g.152307716C>G | CA420928242 | FLG | c.7170G>C (p.Gly2390=)
| |
1 | g.152307716C>T | CA420928243 | FLG | c.7170G>A (p.Gly2390=)
| |
1 | g.152307718del | CA1104873 | FLG | c.7170del (p.His2392IlefsTer27)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307717C>A | CA342049121 | FLG | c.7169G>T (p.Gly2390Val)
| |
1 | g.152307717C= | CA2479949286 | FLG | c.7169G= (p.Gly2390=)
| |
1 | g.152307717C>G | CA342049123 | FLG | c.7169G>C (p.Gly2390Ala)
| |
1 | g.152307717C>T | CA342049125 | FLG | c.7169G>A (p.Gly2390Glu)
| dbSNP gnomAD v4 |
1 | g.152307718C>A | CA30549070 | FLG | c.7168G>T (p.Gly2390Trp)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307718C= | CA1144182370 | FLG | c.7168G= (p.Gly2390=)
| |
1 | g.152307718C>G | CA342049128 | FLG | c.7168G>C (p.Gly2390Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307718C>T | CA342049131 | FLG | c.7168G>A (p.Gly2390Arg)
| |
1 | g.152307719A>C | CA420928245 | FLG | c.7167T>G (p.Ala2389=)
| |
1 | g.152307719A>G | CA420928246 | FLG | c.7167T>C (p.Ala2389=)
| |
1 | g.152307719A>T | CA420928247 | FLG | c.7167T>A (p.Ala2389=)
| |
1 | g.152307719_152307720insTTAAAAAA | CA1007766410 | FLG | c.7167_7168insTTTTTAAT (p.Gly2390PhefsTer32)
| gnomAD v3 gnomAD v4 |
1 | g.152307720G>A | CA342049136 | FLG | c.7166C>T (p.Ala2389Val)
| gnomAD v4 |
1 | g.152307720G>C | CA342049139 | FLG | c.7166C>G (p.Ala2389Gly)
| gnomAD v4 |
1 | g.152307720G= | CA2479949287 | FLG | c.7166C= (p.Ala2389=)
| |
1 | g.152307720G>T | CA342049142 | FLG | c.7166C>A (p.Ala2389Asp)
| dbSNP gnomAD v4 |
1 | g.152307721C>A | CA342049145 | FLG | c.7165G>T (p.Ala2389Ser)
| |
1 | g.152307721C= | CA1143754028 | FLG | c.7165G= (p.Ala2389=)
| |
1 | g.152307721C>G | CA342049147 | FLG | c.7165G>C (p.Ala2389Pro)
| |
1 | g.152307721C>T | CA1104874 | FLG | c.7165G>A (p.Ala2389Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307722C>A | CA342049149 | FLG | c.7164G>T (p.Gln2388His)
| gnomAD v4 |
1 | g.152307722C= | CA2479949288 | FLG | c.7164G= (p.Gln2388=)
| |
1 | g.152307722C>G | CA342049150 | FLG | c.7164G>C (p.Gln2388His)
| |
1 | g.152307722C>T | CA1104875 | FLG | c.7164G>A (p.Gln2388=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307722_152307723delinsCT | CA2479949289 | FLG | c.7163_7164delinsAG (p.Gln2388=)
| |
1 | g.152307723del | CA526662195 | FLG | c.7163del (p.Gln2388ArgfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307723T>A | CA342049155 | FLG | c.7163A>T (p.Gln2388Leu)
| |
1 | g.152307723T>C | CA342049157 | FLG | c.7163A>G (p.Gln2388Arg)
| |
1 | g.152307723T>G | CA342049159 | FLG | c.7163A>C (p.Gln2388Pro)
| |
1 | g.152307724G>A | CA342049161 | FLG | c.7162C>T (p.Gln2388Ter)
| |
1 | g.152307724G>C | CA342049164 | FLG | c.7162C>G (p.Gln2388Glu)
| gnomAD v4 |
1 | g.152307724G= | CA2479949290 | FLG | c.7162C= (p.Gln2388=)
| |
1 | g.152307724G>T | CA342049163 | FLG | c.7162C>A (p.Gln2388Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307725T>A | CA1104876 | FLG | c.7161A>T (p.Gly2387=)
| dbSNP ExAC gnomAD v4 |
1 | g.152307725T>C | CA420928252 | FLG | c.7161A>G (p.Gly2387=)
| |
1 | g.152307725T>G | CA420928253 | FLG | c.7161A>C (p.Gly2387=)
| |
1 | g.152307725T= | CA1144036215 | FLG | c.7161A= (p.Gly2387=)
| |
1 | g.152307725_152307756del | CA2746124081 | FLG | c.7130_7161del (p.Asp2377AlafsTer?)
| |
1 | g.152307726C>A | CA342049168 | FLG | c.7160G>T (p.Gly2387Val)
| |
1 | g.152307726C= | CA1142103216 | FLG | c.7160G= (p.Gly2387=)
| |
1 | g.152307726C>G | CA342049169 | FLG | c.7160G>C (p.Gly2387Ala)
| |
1 | g.152307726C>T | CA1104877 | FLG | c.7160G>A (p.Gly2387Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |