| 1 | g.152311343_152311346delinsATGG | CA2479951314 | FLG | c.3540_3543delinsCCAT (p.His1180=)
| |
| 1 | g.152311347_152311349del | CA2479951315 | FLG | c.3540_3542del (p.His1181del)
| dbSNP gnomAD v4 |
| 1 | g.152311345G>A | CA1106634 | FLG | c.3541C>T (p.His1181Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311345G>C | CA342082604 | FLG | c.3541C>G (p.His1181Asp)
| |
| 1 | g.152311345G= | CA1144328973 | FLG | c.3541C= (p.His1181=)
| |
| 1 | g.152311345G>T | CA342082607 | FLG | c.3541C>A (p.His1181Asn)
| dbSNP gnomAD v4 |
| 1 | g.152311346G>A | CA1106635 | FLG | c.3540C>T (p.His1180=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311346G>C | CA342082613 | FLG | c.3540C>G (p.His1180Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311346G= | CA2479951317 | FLG | c.3540C= (p.His1180=)
| |
| 1 | g.152311346G>T | CA342082622 | FLG | c.3540C>A (p.His1180Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311347T>A | CA342082628 | FLG | c.3539A>T (p.His1180Leu)
| |
| 1 | g.152311347T>C | CA342082632 | FLG | c.3539A>G (p.His1180Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311347T>G | CA342082635 | FLG | c.3539A>C (p.His1180Pro)
| |
| 1 | g.152311347T= | CA2479951318 | FLG | c.3539A= (p.His1180=)
| |
| 1 | g.152311349_152311357del | CA2647993647 | FLG | c.3531_3539del (p.Gln1177_Ser1179del)
| gnomAD v4 |
| 1 | g.152311348G>A | CA342082636 | FLG | c.3538C>T (p.His1180Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311348G>C | CA342082637 | FLG | c.3538C>G (p.His1180Asp)
| |
| 1 | g.152311348G= | CA2479951319 | FLG | c.3538C= (p.His1180=)
| |
| 1 | g.152311348G>T | CA342082639 | FLG | c.3538C>A (p.His1180Asn)
| gnomAD v4 |
| 1 | g.152311349G>A | CA420930870 | FLG | c.3537C>T (p.Ser1179=)
| gnomAD v4 |
| 1 | g.152311349G>C | CA420930871 | FLG | c.3537C>G (p.Ser1179=)
| |
| 1 | g.152311349G>T | CA420930872 | FLG | c.3537C>A (p.Ser1179=)
| |
| 1 | g.152311350G>A | CA342082642 | FLG | c.3536C>T (p.Ser1179Phe)
| |
| 1 | g.152311350G>C | CA342082648 | FLG | c.3536C>G (p.Ser1179Cys)
| |
| 1 | g.152311350G>T | CA342082644 | FLG | c.3536C>A (p.Ser1179Tyr)
| |
| 1 | g.152311351A= | CA2479951320 | FLG | c.3535T= (p.Ser1179=)
| |
| 1 | g.152311351A>C | CA342082651 | FLG | c.3535T>G (p.Ser1179Ala)
| |
| 1 | g.152311351A>G | CA342082654 | FLG | c.3535T>C (p.Ser1179Pro)
| dbSNP |
| 1 | g.152311351A>T | CA342082657 | FLG | c.3535T>A (p.Ser1179Thr)
| gnomAD v4 |
| 1 | g.152311352T>A | CA420930873 | FLG | c.3534A>T (p.Gly1178=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311352T>C | CA420930875 | FLG | c.3534A>G (p.Gly1178=)
| gnomAD v3 gnomAD v4 |
| 1 | g.152311352T>G | CA420930874 | FLG | c.3534A>C (p.Gly1178=)
| |
| 1 | g.152311352T= | CA2479951321 | FLG | c.3534A= (p.Gly1178=)
| |
| 1 | g.152311353C>A | CA342082660 | FLG | c.3533G>T (p.Gly1178Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311353C= | CA2479951322 | FLG | c.3533G= (p.Gly1178=)
| |
| 1 | g.152311353C>G | CA342082661 | FLG | c.3533G>C (p.Gly1178Ala)
| dbSNP |
| 1 | g.152311353C>T | CA342082662 | FLG | c.3533G>A (p.Gly1178Glu)
| |
| 1 | g.152311354C>A | CA342082665 | FLG | c.3532G>T (p.Gly1178Ter)
| dbSNP |
| 1 | g.152311354C= | CA2479951323 | FLG | c.3532G= (p.Gly1178=)
| |
| 1 | g.152311354C>G | CA342082667 | FLG | c.3532G>C (p.Gly1178Arg)
| |
| 1 | g.152311354C>T | CA342082669 | FLG | c.3532G>A (p.Gly1178Arg)
| |
| 1 | g.152311355C>A | CA342082673 | FLG | c.3531G>T (p.Gln1177His)
| |
| 1 | g.152311355C= | CA1145834959 | FLG | c.3531G= (p.Gln1177=)
| |
| 1 | g.152311355C>G | CA1106636 | FLG | c.3531G>C (p.Gln1177His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311355C>T | CA420930876 | FLG | c.3531G>A (p.Gln1177=)
| gnomAD v3 gnomAD v4 |
| 1 | g.152311356T>A | CA342082688 | FLG | c.3530A>T (p.Gln1177Leu)
| |
| 1 | g.152311356T>C | CA30557493 | FLG | c.3530A>G (p.Gln1177Arg)
| dbSNP |
| 1 | g.152311356T>G | CA342082683 | FLG | c.3530A>C (p.Gln1177Pro)
| |
| 1 | g.152311356T= | CA2479951324 | FLG | c.3530A= (p.Gln1177=)
| |
| 1 | g.152311357G>A | CA1106637 | FLG | c.3529C>T (p.Gln1177Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311357G>C | CA342082696 | FLG | c.3529C>G (p.Gln1177Glu)
| |
| 1 | g.152311357G= | CA2479951325 | FLG | c.3529C= (p.Gln1177=)
| |
| 1 | g.152311357G>T | CA342082698 | FLG | c.3529C>A (p.Gln1177Lys)
| gnomAD v4 COSMIC |
| 1 | g.152311358C>A | CA342082701 | FLG | c.3528G>T (p.Arg1176Ser)
| |
| 1 | g.152311358C= | CA1142226720 | FLG | c.3528G= (p.Arg1176=)
| |
| 1 | g.152311358C>G | CA342082705 | FLG | c.3528G>C (p.Arg1176Ser)
| |
| 1 | g.152311358C>T | CA1106638 | FLG | c.3528G>A (p.Arg1176=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311359C>A | CA342082710 | FLG | c.3527G>T (p.Arg1176Met)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311359C= | CA1149136666 | FLG | c.3527G= (p.Arg1176=)
| |
| 1 | g.152311359C>G | CA342082712 | FLG | c.3527G>C (p.Arg1176Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311359C>T | CA1106639 | FLG | c.3527G>A (p.Arg1176Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311360T>A | CA342082716 | FLG | c.3526A>T (p.Arg1176Trp)
| |
| 1 | g.152311360T>C | CA342082718 | FLG | c.3526A>G (p.Arg1176Gly)
| |
| 1 | g.152311360T>G | CA420930877 | FLG | c.3526A>C (p.Arg1176=)
| |
| 1 | g.152311361T>A | CA1106640 | FLG | c.3525A>T (p.Gly1175=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311361T>C | CA420930878 | FLG | c.3525A>G (p.Gly1175=)
| |
| 1 | g.152311361T>G | CA420930879 | FLG | c.3525A>C (p.Gly1175=)
| |
| 1 | g.152311361T= | CA1141820614 | FLG | c.3525A= (p.Gly1175=)
| |
| 1 | g.152311362C>A | CA342082726 | FLG | c.3524G>T (p.Gly1175Val)
| |
| 1 | g.152311362C= | CA2479951326 | FLG | c.3524G= (p.Gly1175=)
| |
| 1 | g.152311362C>G | CA342082724 | FLG | c.3524G>C (p.Gly1175Ala)
| |
| 1 | g.152311362C>T | CA1106641 | FLG | c.3524G>A (p.Gly1175Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152311363C>A | CA342082730 | FLG | c.3523G>T (p.Gly1175Ter)
| |
| 1 | g.152311363C= | CA2479951327 | FLG | c.3523G= (p.Gly1175=)
| |
| 1 | g.152311363C>G | CA342082742 | FLG | c.3523G>C (p.Gly1175Arg)
| |
| 1 | g.152311363C>T | CA342082733 | FLG | c.3523G>A (p.Gly1175Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311364T>A | CA420930880 | FLG | c.3522A>T (p.Gly1174=)
| |
| 1 | g.152311364T>C | CA420930882 | FLG | c.3522A>G (p.Gly1174=)
| |
| 1 | g.152311364T>G | CA420930881 | FLG | c.3522A>C (p.Gly1174=)
| |
| 1 | g.152311365C>A | CA342082745 | FLG | c.3521G>T (p.Gly1174Val)
| |
| 1 | g.152311365C= | CA2479951328 | FLG | c.3521G= (p.Gly1174=)
| |
| 1 | g.152311365C>G | CA342082746 | FLG | c.3521G>C (p.Gly1174Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152311365C>T | CA342082747 | FLG | c.3521G>A (p.Gly1174Glu)
| gnomAD v4 COSMIC |
| 1 | g.152311366C>A | CA342082749 | FLG | c.3520G>T (p.Gly1174Ter)
| |
| 1 | g.152311366C= | CA2479951329 | FLG | c.3520G= (p.Gly1174=)
| |
| 1 | g.152311366C>G | CA342082750 | FLG | c.3520G>C (p.Gly1174Arg)
| |
| 1 | g.152311366C>T | CA1106642 | FLG | c.3520G>A (p.Gly1174Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311367T>A | CA1106644 | FLG | c.3519A>T (p.Arg1173Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311367T>C | CA1106643 | FLG | c.3519A>G (p.Arg1173=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311367T>G | CA342082758 | FLG | c.3519A>C (p.Arg1173Ser)
| |
| 1 | g.152311367T= | CA2479951331 | FLG | c.3519A= (p.Arg1173=)
| |
| 1 | g.152311367_152311368delinsTC | CA2479951330 | FLG | c.3518_3519delinsGA (p.Arg1173=)
| |
| 1 | g.152311368del | CA2479951332 | FLG | c.3518del (p.Arg1173LysfsTer13)
| dbSNP gnomAD v4 |
| 1 | g.152311368C>A | CA342082762 | FLG | c.3518G>T (p.Arg1173Ile)
| dbSNP gnomAD v4 |
| 1 | g.152311368C= | CA2479951333 | FLG | c.3518G= (p.Arg1173=)
| |
| 1 | g.152311368C>G | CA342082765 | FLG | c.3518G>C (p.Arg1173Thr)
| |
| 1 | g.152311368C>T | CA342082768 | FLG | c.3518G>A (p.Arg1173Lys)
| dbSNP gnomAD v4 |
| 1 | g.152311369T>A | CA342082772 | FLG | c.3517A>T (p.Arg1173Ter)
| |
| 1 | g.152311369T>C | CA342082774 | FLG | c.3517A>G (p.Arg1173Gly)
| |
| 1 | g.152311369T>G | CA420930883 | FLG | c.3517A>C (p.Arg1173=)
| |
| 1 | g.152311370C>A | CA342082777 | FLG | c.3516G>T (p.Arg1172Ser)
| gnomAD v4 |
| 1 | g.152311370C= | CA1143476674 | FLG | c.3516G= (p.Arg1172=)
| |
| 1 | g.152311370C>G | CA1106645 | FLG | c.3516G>C (p.Arg1172Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311370C>T | CA420930884 | FLG | c.3516G>A (p.Arg1172=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311371C>A | CA342082782 | FLG | c.3515G>T (p.Arg1172Met)
| |
| 1 | g.152311371C>G | CA342082785 | FLG | c.3515G>C (p.Arg1172Thr)
| |
| 1 | g.152311371C>T | CA342082787 | FLG | c.3515G>A (p.Arg1172Lys)
| |
| 1 | g.152311372T>A | CA342082791 | FLG | c.3514A>T (p.Arg1172Trp)
| |
| 1 | g.152311372T>C | CA342082792 | FLG | c.3514A>G (p.Arg1172Gly)
| |
| 1 | g.152311372T>G | CA420930885 | FLG | c.3514A>C (p.Arg1172=)
| |
| 1 | g.152311373T>A | CA420930886 | FLG | c.3513A>T (p.Ser1171=)
| |
| 1 | g.152311373T>C | CA420930887 | FLG | c.3513A>G (p.Ser1171=)
| |
| 1 | g.152311373T>G | CA420930888 | FLG | c.3513A>C (p.Ser1171=)
| |
| 1 | g.152311374G>A | CA342082795 | FLG | c.3512C>T (p.Ser1171Leu)
| |
| 1 | g.152311374G>C | CA342082796 | FLG | c.3512C>G (p.Ser1171Ter)
| |
| 1 | g.152311374G>T | CA342082800 | FLG | c.3512C>A (p.Ser1171Ter)
| |
| 1 | g.152311375A= | CA2479951335 | FLG | c.3511T= (p.Ser1171=)
| |
| 1 | g.152311375A>C | CA342082805 | FLG | c.3511T>G (p.Ser1171Ala)
| gnomAD v4 |
| 1 | g.152311375A>G | CA342082808 | FLG | c.3511T>C (p.Ser1171Pro)
| dbSNP |
| 1 | g.152311375A>T | CA342082811 | FLG | c.3511T>A (p.Ser1171Thr)
| |
| 1 | g.152311375_152311376delinsAC | CA2479951334 | FLG | c.3510_3511delinsGT (p.Gly1170=)
| |
| 1 | g.152311376C>A | CA420930889 | FLG | c.3510G>T (p.Gly1170=)
| gnomAD v4 |
| 1 | g.152311376C= | CA2479951336 | FLG | c.3510G= (p.Gly1170=)
| |
| 1 | g.152311376C>G | CA420930890 | FLG | c.3510G>C (p.Gly1170=)
| gnomAD v4 |
| 1 | g.152311376C>T | CA420930891 | FLG | c.3510G>A (p.Gly1170=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152311379dup | CA526662255 | FLG | c.3510dup (p.Ser1171ValfsTer12)
| gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152311379del | CA526662254 | FLG | c.3510del (p.Ser1171GlnfsTer15)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311377C>A | CA342082815 | FLG | c.3509G>T (p.Gly1170Val)
| |
| 1 | g.152311377C= | CA2479951337 | FLG | c.3509G= (p.Gly1170=)
| |
| 1 | g.152311377C>G | CA342082812 | FLG | c.3509G>C (p.Gly1170Ala)
| |
| 1 | g.152311377C>T | CA342082813 | FLG | c.3509G>A (p.Gly1170Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311378C>A | CA342082818 | FLG | c.3508G>T (p.Gly1170Trp)
| dbSNP gnomAD v4 |
| 1 | g.152311378C>G | CA342082822 | FLG | c.3508G>C (p.Gly1170Arg)
| |
| 1 | g.152311378C>T | CA342082824 | FLG | c.3508G>A (p.Gly1170Arg)
| COSMIC |
| 1 | g.152311379C>A | CA420930893 | FLG | c.3507G>T (p.Pro1169=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311379C= | CA2479951338 | FLG | c.3507G= (p.Pro1169=)
| |
| 1 | g.152311379C>G | CA420930892 | FLG | c.3507G>C (p.Pro1169=)
| |
| 1 | g.152311379C>T | CA1106646 | FLG | c.3507G>A (p.Pro1169=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152311380G>A | CA1106647 | FLG | c.3506C>T (p.Pro1169Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311380G>C | CA342082833 | FLG | c.3506C>G (p.Pro1169Arg)
| |
| 1 | g.152311380G= | CA2479951339 | FLG | c.3506C= (p.Pro1169=)
| |
| 1 | g.152311380G>T | CA1106648 | FLG | c.3506C>A (p.Pro1169Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152311380_152311382del | CA2542672178 | FLG | c.3504_3506del (p.His1168_Pro1169delinsGln)
| |
| 1 | g.152311382del | CA2573903669 | FLG | c.3506del (p.Pro1169ArgfsTer17)
| gnomAD v4 |
| 1 | g.152311381G>A | CA342082847 | FLG | c.3505C>T (p.Pro1169Ser)
| gnomAD v4 |
| 1 | g.152311381G>C | CA342082838 | FLG | c.3505C>G (p.Pro1169Ala)
| dbSNP gnomAD v4 |
| 1 | g.152311381G= | CA2479951340 | FLG | c.3505C= (p.Pro1169=)
| |
| 1 | g.152311381G>T | CA342082842 | FLG | c.3505C>A (p.Pro1169Thr)
| |
| 1 | g.152311382G>A | CA420930894 | FLG | c.3504C>T (p.His1168=)
| |
| 1 | g.152311382G>C | CA1106649 | FLG | c.3504C>G (p.His1168Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311382G= | CA2479951341 | FLG | c.3504C= (p.His1168=)
| |
| 1 | g.152311382G>T | CA342082853 | FLG | c.3504C>A (p.His1168Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311383T>A | CA342082857 | FLG | c.3503A>T (p.His1168Leu)
| |
| 1 | g.152311383T>C | CA342082858 | FLG | c.3503A>G (p.His1168Arg)
| |
| 1 | g.152311383T>G | CA342082861 | FLG | c.3503A>C (p.His1168Pro)
| dbSNP |
| 1 | g.152311383T= | CA2479951342 | FLG | c.3503A= (p.His1168=)
| |
| 1 | g.152311383dup | CA2647993650 | FLG | c.3503dup (p.His1168GlnfsTer15)
| gnomAD v4 |
| 1 | g.152311384G>A | CA342082864 | FLG | c.3502C>T (p.His1168Tyr)
| ClinVar gnomAD v4 |
| 1 | g.152311384G>C | CA342082869 | FLG | c.3502C>G (p.His1168Asp)
| |
| 1 | g.152311384G>T | CA342082866 | FLG | c.3502C>A (p.His1168Asn)
| |
| 1 | g.152311385T>A | CA420930895 | FLG | c.3501A>T (p.Ala1167=)
| |
| 1 | g.152311385T>C | CA1106650 | FLG | c.3501A>G (p.Ala1167=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311385T>G | CA420930896 | FLG | c.3501A>C (p.Ala1167=)
| |
| 1 | g.152311385T= | CA2479951343 | FLG | c.3501A= (p.Ala1167=)
| |
| 1 | g.152311386G>A | CA342082877 | FLG | c.3500C>T (p.Ala1167Val)
| |
| 1 | g.152311386G>C | CA1106651 | FLG | c.3500C>G (p.Ala1167Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311386G= | CA1140665830 | FLG | c.3500C= (p.Ala1167=)
| |
| 1 | g.152311386G>T | CA342082882 | FLG | c.3500C>A (p.Ala1167Glu)
| |
| 1 | g.152311386_152311387insTC | CA2521058521 | FLG | c.3499_3500insGA (p.Ala1167GlyfsTer20)
| |
| 1 | g.152311387C>A | CA342082886 | FLG | c.3499G>T (p.Ala1167Ser)
| |
| 1 | g.152311387C>G | CA342082888 | FLG | c.3499G>C (p.Ala1167Pro)
| |
| 1 | g.152311387C>T | CA342082890 | FLG | c.3499G>A (p.Ala1167Thr)
| |
| 1 | g.152311388A= | CA2479951344 | FLG | c.3498T= (p.Arg1166=)
| |
| 1 | g.152311388A>C | CA1106652 | FLG | c.3498T>G (p.Arg1166=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311388A>G | CA420930897 | FLG | c.3498T>C (p.Arg1166=)
| gnomAD v4 |
| 1 | g.152311388A>T | CA420930898 | FLG | c.3498T>A (p.Arg1166=)
| gnomAD v4 |
| 1 | g.152311389C>A | CA342082898 | FLG | c.3497G>T (p.Arg1166Leu)
| |
| 1 | g.152311389C= | CA2479951345 | FLG | c.3497G= (p.Arg1166=)
| |
| 1 | g.152311389C>G | CA342082899 | FLG | c.3497G>C (p.Arg1166Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311389C>T | CA1106653 | FLG | c.3497G>A (p.Arg1166His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152311390G>A | CA342082906 | FLG | c.3496C>T (p.Arg1166Cys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152311390G>C | CA342082912 | FLG | c.3496C>G (p.Arg1166Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311390G= | CA2479951346 | FLG | c.3496C= (p.Arg1166=)
| |
| 1 | g.152311390G>T | CA342082909 | FLG | c.3496C>A (p.Arg1166Ser)
| |
| 1 | g.152311391A>C | CA342082916 | FLG | c.3495T>G (p.Ile1165Met)
| |
| 1 | g.152311391A>G | CA420930899 | FLG | c.3495T>C (p.Ile1165=)
| |
| 1 | g.152311391A>T | CA420930900 | FLG | c.3495T>A (p.Ile1165=)
| |
| 1 | g.152311392A>C | CA342082926 | FLG | c.3494T>G (p.Ile1165Ser)
| |
| 1 | g.152311392A>G | CA342082920 | FLG | c.3494T>C (p.Ile1165Thr)
| |
| 1 | g.152311392A>T | CA342082923 | FLG | c.3494T>A (p.Ile1165Asn)
| |
| 1 | g.152311393T>A | CA342082931 | FLG | c.3493A>T (p.Ile1165Phe)
| gnomAD v4 |
| 1 | g.152311393T>C | CA342082935 | FLG | c.3493A>G (p.Ile1165Val)
| |
| 1 | g.152311393T>G | CA342082937 | FLG | c.3493A>C (p.Ile1165Leu)
| |
| 1 | g.152311393_152311394delinsTG | CA2479951347 | FLG | c.3492_3493delinsCA (p.Thr1164=)
| |
| 1 | g.152311394G>A | CA420930901 | FLG | c.3492C>T (p.Thr1164=)
| |
| 1 | g.152311394G>C | CA420930902 | FLG | c.3492C>G (p.Thr1164=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311394G= | CA2479951348 | FLG | c.3492C= (p.Thr1164=)
| |
| 1 | g.152311394G>T | CA420930903 | FLG | c.3492C>A (p.Thr1164=)
| |
| 1 | g.152311395del | CA1106654 | FLG | c.3492del (p.Ile1165PhefsTer21)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311395G>A | CA342082946 | FLG | c.3491C>T (p.Thr1164Ile)
| |
| 1 | g.152311395G>C | CA342082949 | FLG | c.3491C>G (p.Thr1164Ser)
| dbSNP |
| 1 | g.152311395G>T | CA342082955 | FLG | c.3491C>A (p.Thr1164Asn)
| |
| 1 | g.152311396T>A | CA342082960 | FLG | c.3490A>T (p.Thr1164Ser)
| |
| 1 | g.152311396T>C | CA342082962 | FLG | c.3490A>G (p.Thr1164Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311396T>G | CA342082964 | FLG | c.3490A>C (p.Thr1164Pro)
| COSMIC |
| 1 | g.152311396T= | CA2479951349 | FLG | c.3490A= (p.Thr1164=)
| |
| 1 | g.152311397G>A | CA420930904 | FLG | c.3489C>T (p.Asp1163=)
| dbSNP |
| 1 | g.152311397G>C | CA342082968 | FLG | c.3489C>G (p.Asp1163Glu)
| |
| 1 | g.152311397G= | CA2479951350 | FLG | c.3489C= (p.Asp1163=)
| |
| 1 | g.152311397G>T | CA342082971 | FLG | c.3489C>A (p.Asp1163Glu)
| gnomAD v4 |
| 1 | g.152311398T>A | CA342082977 | FLG | c.3488A>T (p.Asp1163Val)
| gnomAD v4 |
| 1 | g.152311398T>C | CA342082980 | FLG | c.3488A>G (p.Asp1163Gly)
| |
| 1 | g.152311398T>G | CA342082982 | FLG | c.3488A>C (p.Asp1163Ala)
| |
| 1 | g.152311399C>A | CA342082984 | FLG | c.3487G>T (p.Asp1163Tyr)
| |
| 1 | g.152311399C= | CA2479951351 | FLG | c.3487G= (p.Asp1163=)
| |
| 1 | g.152311399C>G | CA342082988 | FLG | c.3487G>C (p.Asp1163His)
| dbSNP gnomAD v4 |
| 1 | g.152311399C>T | CA1106655 | FLG | c.3487G>A (p.Asp1163Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311400C>A | CA342082997 | FLG | c.3486G>T (p.Gln1162His)
| |
| 1 | g.152311400C= | CA2479951352 | FLG | c.3486G= (p.Gln1162=)
| |
| 1 | g.152311400C>G | CA1106656 | FLG | c.3486G>C (p.Gln1162His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311400C>T | CA420930905 | FLG | c.3486G>A (p.Gln1162=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152311401T>A | CA342083003 | FLG | c.3485A>T (p.Gln1162Leu)
| gnomAD v4 |
| 1 | g.152311401T>C | CA342083007 | FLG | c.3485A>G (p.Gln1162Arg)
| |
| 1 | g.152311401T>G | CA342083010 | FLG | c.3485A>C (p.Gln1162Pro)
| |
| 1 | g.152311402G>A | CA342083016 | FLG | c.3484C>T (p.Gln1162Ter)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311402G>C | CA342083019 | FLG | c.3484C>G (p.Gln1162Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311402G= | CA1140972328 | FLG | c.3484C= (p.Gln1162=)
| |
| 1 | g.152311402G>T | CA1106657 | FLG | c.3484C>A (p.Gln1162Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311403A>C | CA420930906 | FLG | c.3483T>G (p.Gly1161=)
| dbSNP COSMIC |
| 1 | g.152311403A>G | CA420930907 | FLG | c.3483T>C (p.Gly1161=)
| gnomAD v4 COSMIC |
| 1 | g.152311403A>T | CA420930908 | FLG | c.3483T>A (p.Gly1161=)
| |
| 1 | g.152311404C>A | CA342083022 | FLG | c.3482G>T (p.Gly1161Val)
| gnomAD v4 |
| 1 | g.152311404C= | CA2479951353 | FLG | c.3482G= (p.Gly1161=)
| |
| 1 | g.152311404C>G | CA1106658 | FLG | c.3482G>C (p.Gly1161Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311404C>T | CA342083028 | FLG | c.3482G>A (p.Gly1161Asp)
| dbSNP |
| 1 | g.152311405C>A | CA342083032 | FLG | c.3481G>T (p.Gly1161Cys)
| gnomAD v4 |
| 1 | g.152311405C= | CA2479951354 | FLG | c.3481G= (p.Gly1161=)
| |
| 1 | g.152311405C>G | CA342083035 | FLG | c.3481G>C (p.Gly1161Arg)
| |
| 1 | g.152311405C>T | CA30557656 | FLG | c.3481G>A (p.Gly1161Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311406C>A | CA342083039 | FLG | c.3480G>T (p.Glu1160Asp)
| gnomAD v3 gnomAD v4 |
| 1 | g.152311406C= | CA2479951355 | FLG | c.3480G= (p.Glu1160=)
| |
| 1 | g.152311406C>G | CA342083042 | FLG | c.3480G>C (p.Glu1160Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152311406C>T | CA420930909 | FLG | c.3480G>A (p.Glu1160=)
| gnomAD v4 |
| 1 | g.152311407T>A | CA342083046 | FLG | c.3479A>T (p.Glu1160Val)
| |
| 1 | g.152311407T>C | CA342083050 | FLG | c.3479A>G (p.Glu1160Gly)
| |
| 1 | g.152311407T>G | CA342083053 | FLG | c.3479A>C (p.Glu1160Ala)
| |
| 1 | g.152311408C>A | CA342083056 | FLG | c.3478G>T (p.Glu1160Ter)
| |
| 1 | g.152311408C>G | CA342083059 | FLG | c.3478G>C (p.Glu1160Gln)
| |
| 1 | g.152311408C>T | CA342083062 | FLG | c.3478G>A (p.Glu1160Lys)
| |
| 1 | g.152311409T>A | CA342083065 | FLG | c.3477A>T (p.Gln1159His)
| |
| 1 | g.152311409T>C | CA420930910 | FLG | c.3477A>G (p.Gln1159=)
| |
| 1 | g.152311409T>G | CA342083067 | FLG | c.3477A>C (p.Gln1159His)
| |
| 1 | g.152311410T>A | CA342083071 | FLG | c.3476A>T (p.Gln1159Leu)
| |
| 1 | g.152311410T>C | CA342083074 | FLG | c.3476A>G (p.Gln1159Arg)
| gnomAD v4 |
| 1 | g.152311410T>G | CA342083081 | FLG | c.3476A>C (p.Gln1159Pro)
| |
| 1 | g.152311411G>A | CA342083083 | FLG | c.3475C>T (p.Gln1159Ter)
| gnomAD v4 |
| 1 | g.152311411G>C | CA342083085 | FLG | c.3475C>G (p.Gln1159Glu)
| |
| 1 | g.152311411G>T | CA342083088 | FLG | c.3475C>A (p.Gln1159Lys)
| |
| 1 | g.152311412G>A | CA420930911 | FLG | c.3474C>T (p.Ser1158=)
| COSMIC |
| 1 | g.152311412G>C | CA420930912 | FLG | c.3474C>G (p.Ser1158=)
| |
| 1 | g.152311412G>T | CA420930913 | FLG | c.3474C>A (p.Ser1158=)
| |
| 1 | g.152311413G>A | CA342083093 | FLG | c.3473C>T (p.Ser1158Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311413G>C | CA342083095 | FLG | c.3473C>G (p.Ser1158Cys)
| COSMIC |
| 1 | g.152311413G= | CA2479951356 | FLG | c.3473C= (p.Ser1158=)
| |
| 1 | g.152311413G>T | CA342083099 | FLG | c.3473C>A (p.Ser1158Tyr)
| dbSNP |
| 1 | g.152311414A>C | CA342083104 | FLG | c.3472T>G (p.Ser1158Ala)
| |
| 1 | g.152311414A>G | CA342083105 | FLG | c.3472T>C (p.Ser1158Pro)
| |
| 1 | g.152311414A>T | CA342083108 | FLG | c.3472T>A (p.Ser1158Thr)
| |
| 1 | g.152311415C>A | CA420930914 | FLG | c.3471G>T (p.Ala1157=)
| dbSNP gnomAD v4 |
| 1 | g.152311415C= | CA2479951357 | FLG | c.3471G= (p.Ala1157=)
| |
| 1 | g.152311415C>G | CA420930915 | FLG | c.3471G>C (p.Ala1157=)
| |
| 1 | g.152311415C>T | CA1106659 | FLG | c.3471G>A (p.Ala1157=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152311416G>A | CA1106660 | FLG | c.3470C>T (p.Ala1157Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311416G>C | CA342083117 | FLG | c.3470C>G (p.Ala1157Gly)
| gnomAD v4 |
| 1 | g.152311416G= | CA1147518763 | FLG | c.3470C= (p.Ala1157=)
| |
| 1 | g.152311416G>T | CA342083114 | FLG | c.3470C>A (p.Ala1157Glu)
| gnomAD v4 |
| 1 | g.152311417C>A | CA1106662 | FLG | c.3469G>T (p.Ala1157Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311417C= | CA2479951358 | FLG | c.3469G= (p.Ala1157=)
| |
| 1 | g.152311417C>G | CA342083123 | FLG | c.3469G>C (p.Ala1157Pro)
| |
| 1 | g.152311417C>T | CA1106661 | FLG | c.3469G>A (p.Ala1157Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311418T>A | CA420930916 | FLG | c.3468A>T (p.Ser1156=)
| |
| 1 | g.152311418T>C | CA420930917 | FLG | c.3468A>G (p.Ser1156=)
| COSMIC |
| 1 | g.152311418T>G | CA420930918 | FLG | c.3468A>C (p.Ser1156=)
| gnomAD v4 |
| 1 | g.152311419G>A | CA342083132 | FLG | c.3467C>T (p.Ser1156Leu)
| |
| 1 | g.152311419G>C | CA342083135 | FLG | c.3467C>G (p.Ser1156Ter)
| |
| 1 | g.152311419G>T | CA342083138 | FLG | c.3467C>A (p.Ser1156Ter)
| |
| 1 | g.152311420A>C | CA342083143 | FLG | c.3466T>G (p.Ser1156Ala)
| gnomAD v4 |
| 1 | g.152311420A>G | CA342083146 | FLG | c.3466T>C (p.Ser1156Pro)
| |
| 1 | g.152311420A>T | CA342083149 | FLG | c.3466T>A (p.Ser1156Thr)
| |
| 1 | g.152311421G>A | CA420930919 | FLG | c.3465C>T (p.His1155=)
| dbSNP gnomAD v4 COSMIC |
| 1 | g.152311421G>C | CA342083152 | FLG | c.3465C>G (p.His1155Gln)
| gnomAD v4 |
| 1 | g.152311421G= | CA2479951359 | FLG | c.3465C= (p.His1155=)
| |
| 1 | g.152311421G>T | CA342083156 | FLG | c.3465C>A (p.His1155Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311422T>A | CA342083159 | FLG | c.3464A>T (p.His1155Leu)
| |
| 1 | g.152311422T>C | CA342083161 | FLG | c.3464A>G (p.His1155Arg)
| |
| 1 | g.152311422T>G | CA342083164 | FLG | c.3464A>C (p.His1155Pro)
| dbSNP gnomAD v4 |
| 1 | g.152311422T= | CA2479951360 | FLG | c.3464A= (p.His1155=)
| |
| 1 | g.152311423G>A | CA342083169 | FLG | c.3463C>T (p.His1155Tyr)
| |
| 1 | g.152311423G>C | CA342083171 | FLG | c.3463C>G (p.His1155Asp)
| |
| 1 | g.152311423G>T | CA342083174 | FLG | c.3463C>A (p.His1155Asn)
| dbSNP gnomAD v4 |
| 1 | g.152311424C>A | CA342083183 | FLG | c.3462G>T (p.Arg1154Ser)
| gnomAD v4 |
| 1 | g.152311424C= | CA2479951361 | FLG | c.3462G= (p.Arg1154=)
| |
| 1 | g.152311424C>G | CA342083181 | FLG | c.3462G>C (p.Arg1154Ser)
| |
| 1 | g.152311424C>T | CA1106663 | FLG | c.3462G>A (p.Arg1154=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311425C>A | CA342083187 | FLG | c.3461G>T (p.Arg1154Met)
| |
| 1 | g.152311425C= | CA2479951362 | FLG | c.3461G= (p.Arg1154=)
| |
| 1 | g.152311425C>G | CA1106664 | FLG | c.3461G>C (p.Arg1154Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311425C>T | CA342083191 | FLG | c.3461G>A (p.Arg1154Lys)
| |
| 1 | g.152311426T>A | CA1106665 | FLG | c.3460A>T (p.Arg1154Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311426T>C | CA342083197 | FLG | c.3460A>G (p.Arg1154Gly)
| dbSNP gnomAD v2 |
| 1 | g.152311426T>G | CA420931033 | FLG | c.3460A>C (p.Arg1154=)
| |
| 1 | g.152311426T= | CA1142246251 | FLG | c.3460A= (p.Arg1154=)
| |
| 1 | g.152311427G>A | CA420931037 | FLG | c.3459C>T (p.Ser1153=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152311427G>C | CA420931038 | FLG | c.3459C>G (p.Ser1153=)
| |
| 1 | g.152311427G= | CA2479951363 | FLG | c.3459C= (p.Ser1153=)
| |
| 1 | g.152311427G>T | CA1106666 | FLG | c.3459C>A (p.Ser1153=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311428G>A | CA342083201 | FLG | c.3458C>T (p.Ser1153Phe)
| gnomAD v4 COSMIC |
| 1 | g.152311428G>C | CA342083204 | FLG | c.3458C>G (p.Ser1153Cys)
| |
| 1 | g.152311428G>T | CA342083207 | FLG | c.3458C>A (p.Ser1153Tyr)
| |
| 1 | g.152311429A= | CA1142195554 | FLG | c.3457T= (p.Ser1153=)
| |
| 1 | g.152311429A>C | CA342083210 | FLG | c.3457T>G (p.Ser1153Ala)
| |
| 1 | g.152311429A>G | CA1106667 | FLG | c.3457T>C (p.Ser1153Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311429A>T | CA342083215 | FLG | c.3457T>A (p.Ser1153Thr)
| |
| 1 | g.152311430G>A | CA420931041 | FLG | c.3456C>T (p.Ser1152=)
| |
| 1 | g.152311430G>C | CA342083219 | FLG | c.3456C>G (p.Ser1152Arg)
| |
| 1 | g.152311430G>T | CA342083220 | FLG | c.3456C>A (p.Ser1152Arg)
| gnomAD v4 |
| 1 | g.152311431C>A | CA342083235 | FLG | c.3455G>T (p.Ser1152Ile)
| |
| 1 | g.152311431C= | CA2479951364 | FLG | c.3455G= (p.Ser1152=)
| |
| 1 | g.152311431C>G | CA342083237 | FLG | c.3455G>C (p.Ser1152Thr)
| gnomAD v4 |
| 1 | g.152311431C>T | CA1106668 | FLG | c.3455G>A (p.Ser1152Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311432T>A | CA342083242 | FLG | c.3454A>T (p.Ser1152Cys)
| |
| 1 | g.152311432T>C | CA342083245 | FLG | c.3454A>G (p.Ser1152Gly)
| gnomAD v4 |
| 1 | g.152311432T>G | CA342083248 | FLG | c.3454A>C (p.Ser1152Arg)
| |
| 1 | g.152311433G>A | CA420931046 | FLG | c.3453C>T (p.Asp1151=)
| gnomAD v4 |
| 1 | g.152311433G>C | CA342083252 | FLG | c.3453C>G (p.Asp1151Glu)
| |
| 1 | g.152311433G>T | CA342083255 | FLG | c.3453C>A (p.Asp1151Glu)
| |
| 1 | g.152311434T>A | CA342083257 | FLG | c.3452A>T (p.Asp1151Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311434T>C | CA342083259 | FLG | c.3452A>G (p.Asp1151Gly)
| gnomAD v4 |
| 1 | g.152311434T>G | CA342083261 | FLG | c.3452A>C (p.Asp1151Ala)
| |
| 1 | g.152311434T= | CA2479951365 | FLG | c.3452A= (p.Asp1151=)
| |
| 1 | g.152311435C>A | CA342083264 | FLG | c.3451G>T (p.Asp1151Tyr)
| |
| 1 | g.152311435C= | CA2479951366 | FLG | c.3451G= (p.Asp1151=)
| |
| 1 | g.152311435C>G | CA342083266 | FLG | c.3451G>C (p.Asp1151His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311435C>T | CA342083268 | FLG | c.3451G>A (p.Asp1151Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152311441_152311450del | CA2647993657 | FLG | c.3442_3451del (p.Gln1148ThrfsTer?)
| gnomAD v4 |
| 1 | g.152311436T>A | CA420931050 | FLG | c.3450A>T (p.Arg1150=)
| |
| 1 | g.152311436T>C | CA1106669 | FLG | c.3450A>G (p.Arg1150=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311436T>G | CA420931051 | FLG | c.3450A>C (p.Arg1150=)
| |
| 1 | g.152311436T= | CA2479951367 | FLG | c.3450A= (p.Arg1150=)
| |
| 1 | g.152311437C>A | CA1106670 | FLG | c.3449G>T (p.Arg1150Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311437C= | CA1141222812 | FLG | c.3449G= (p.Arg1150=)
| |
| 1 | g.152311437C>G | CA342083275 | FLG | c.3449G>C (p.Arg1150Pro)
| |
| 1 | g.152311437C>T | CA1106671 | FLG | c.3449G>A (p.Arg1150Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152311438G>A | CA1106673 | FLG | c.3448C>T (p.Arg1150Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311438G>C | CA1106672 | FLG | c.3448C>G (p.Arg1150Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152311438G= | CA2479951368 | FLG | c.3448C= (p.Arg1150=)
| |
| 1 | g.152311438G>T | CA420931055 | FLG | c.3448C>A (p.Arg1150=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311439T>A | CA420931056 | FLG | c.3447A>T (p.Ala1149=)
| |
| 1 | g.152311439T>C | CA420931057 | FLG | c.3447A>G (p.Ala1149=)
| |
| 1 | g.152311439T>G | CA420931058 | FLG | c.3447A>C (p.Ala1149=)
| |
| 1 | g.152311440G>A | CA342083285 | FLG | c.3446C>T (p.Ala1149Val)
| ClinVar |
| 1 | g.152311440G>C | CA342083288 | FLG | c.3446C>G (p.Ala1149Gly)
| |
| 1 | g.152311440G>T | CA342083292 | FLG | c.3446C>A (p.Ala1149Glu)
| |
| 1 | g.152311441C>A | CA342083300 | FLG | c.3445G>T (p.Ala1149Ser)
| |
| 1 | g.152311441C= | CA2479951369 | FLG | c.3445G= (p.Ala1149=)
| |
| 1 | g.152311441C>G | CA342083296 | FLG | c.3445G>C (p.Ala1149Pro)
| |
| 1 | g.152311441C>T | CA1106674 | FLG | c.3445G>A (p.Ala1149Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152311442C>A | CA342083303 | FLG | c.3444G>T (p.Gln1148His)
| |
| 1 | g.152311442C>G | CA342083305 | FLG | c.3444G>C (p.Gln1148His)
| gnomAD v4 |
| 1 | g.152311442C>T | CA420931060 | FLG | c.3444G>A (p.Gln1148=)
| |
| 1 | g.152311443T>A | CA342083308 | FLG | c.3443A>T (p.Gln1148Leu)
| |
| 1 | g.152311443T>C | CA342083311 | FLG | c.3443A>G (p.Gln1148Arg)
| |
| 1 | g.152311443T>G | CA342083314 | FLG | c.3443A>C (p.Gln1148Pro)
| |
| 1 | g.152311444G>A | CA342083324 | FLG | c.3442C>T (p.Gln1148Ter)
| gnomAD v4 |
| 1 | g.152311444G>C | CA342083319 | FLG | c.3442C>G (p.Gln1148Glu)
| |
| 1 | g.152311444G= | CA1144036201 | FLG | c.3442C= (p.Gln1148=)
| |
| 1 | g.152311444G>T | CA1106675 | FLG | c.3442C>A (p.Gln1148Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311445C>A | CA1106677 | FLG | c.3441G>T (p.Glu1147Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152311445C= | CA1142420049 | FLG | c.3441G= (p.Glu1147=)
| |
| 1 | g.152311445C>G | CA342083328 | FLG | c.3441G>C (p.Glu1147Asp)
| |
| 1 | g.152311445C>T | CA1106676 | FLG | c.3441G>A (p.Glu1147=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
