1 | g.152307896G>A | CA1104944 | FLG | c.6990C>T (p.His2330=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307896G>C | CA342049525 | FLG | c.6990C>G (p.His2330Gln)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307896G= | CA1140079334 | FLG | c.6990C= (p.His2330=)
| |
1 | g.152307896G>T | CA1104945 | FLG | c.6990C>A (p.His2330Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307897T>A | CA342049527 | FLG | c.6989A>T (p.His2330Leu)
| |
1 | g.152307897T>C | CA1104946 | FLG | c.6989A>G (p.His2330Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307897T>G | CA342049529 | FLG | c.6989A>C (p.His2330Pro)
| |
1 | g.152307897T= | CA2479949376 | FLG | c.6989A= (p.His2330=)
| |
1 | g.152307898del | CA2647993496 | FLG | c.6988del (p.His2330ThrfsTer?)
| gnomAD v4 |
1 | g.152307898G>A | CA342049530 | FLG | c.6988C>T (p.His2330Tyr)
| |
1 | g.152307898G>C | CA342049532 | FLG | c.6988C>G (p.His2330Asp)
| |
1 | g.152307898G>T | CA342049534 | FLG | c.6988C>A (p.His2330Asn)
| |
1 | g.152307898_152307900delinsGTC | CA2479949377 | FLG | c.6986_6988delinsGAC (p.Arg2329=)
| |
1 | g.152307899T>A | CA342049536 | FLG | c.6987A>T (p.Arg2329Ser)
| |
1 | g.152307899T>C | CA420928755 | FLG | c.6987A>G (p.Arg2329=)
| gnomAD v4 |
1 | g.152307899T>G | CA342049538 | FLG | c.6987A>C (p.Arg2329Ser)
| |
1 | g.152307905_152307906del | CA1104947 | FLG | c.6986_6987del (p.Arg2329ThrfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307900C>A | CA342049541 | FLG | c.6986G>T (p.Arg2329Ile)
| |
1 | g.152307900C>G | CA342049542 | FLG | c.6986G>C (p.Arg2329Thr)
| gnomAD v4 |
1 | g.152307900C>T | CA342049543 | FLG | c.6986G>A (p.Arg2329Lys)
| gnomAD v4 |
1 | g.152307901T>A | CA342049548 | FLG | c.6985A>T (p.Arg2329Ter)
| |
1 | g.152307901T>C | CA342049546 | FLG | c.6985A>G (p.Arg2329Gly)
| |
1 | g.152307901T>G | CA420928760 | FLG | c.6985A>C (p.Arg2329=)
| |
1 | g.152307902C>A | CA342049552 | FLG | c.6984G>T (p.Glu2328Asp)
| |
1 | g.152307902C= | CA1145714329 | FLG | c.6984G= (p.Glu2328=)
| |
1 | g.152307902C>G | CA1104949 | FLG | c.6984G>C (p.Glu2328Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307902C>T | CA1104948 | FLG | c.6984G>A (p.Glu2328=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307903T>A | CA342049560 | FLG | c.6983A>T (p.Glu2328Val)
| |
1 | g.152307903T>C | CA342049561 | FLG | c.6983A>G (p.Glu2328Gly)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307903T>G | CA342049563 | FLG | c.6983A>C (p.Glu2328Ala)
| |
1 | g.152307903T= | CA2479949378 | FLG | c.6983A= (p.Glu2328=)
| |
1 | g.152307904C>A | CA342049568 | FLG | c.6982G>T (p.Glu2328Ter)
| |
1 | g.152307904C= | CA2479949379 | FLG | c.6982G= (p.Glu2328=)
| |
1 | g.152307904C>G | CA342049571 | FLG | c.6982G>C (p.Glu2328Gln)
| dbSNP gnomAD v2 |
1 | g.152307904C>T | CA1104950 | FLG | c.6982G>A (p.Glu2328Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152307905T>A | CA420928773 | FLG | c.6981A>T (p.Gly2327=)
| |
1 | g.152307905T>C | CA420928774 | FLG | c.6981A>G (p.Gly2327=)
| |
1 | g.152307905T>G | CA420928775 | FLG | c.6981A>C (p.Gly2327=)
| |
1 | g.152307906C>A | CA1104952 | FLG | c.6980G>T (p.Gly2327Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307906C= | CA2479949380 | FLG | c.6980G= (p.Gly2327=)
| |
1 | g.152307906C>G | CA1104951 | FLG | c.6980G>C (p.Gly2327Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307906C>T | CA1104953 | FLG | c.6980G>A (p.Gly2327Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152307907C>A | CA342049589 | FLG | c.6979G>T (p.Gly2327Ter)
| |
1 | g.152307907C= | CA2479949381 | FLG | c.6979G= (p.Gly2327=)
| |
1 | g.152307907C>G | CA342049587 | FLG | c.6979G>C (p.Gly2327Arg)
| |
1 | g.152307907C>T | CA1104954 | FLG | c.6979G>A (p.Gly2327Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307908T>A | CA420928782 | FLG | c.6978A>T (p.Ala2326=)
| |
1 | g.152307908T>C | CA420928779 | FLG | c.6978A>G (p.Ala2326=)
| |
1 | g.152307908T>G | CA420928783 | FLG | c.6978A>C (p.Ala2326=)
| gnomAD v4 |
1 | g.152307909G>A | CA342049591 | FLG | c.6977C>T (p.Ala2326Val)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307909G>C | CA342049592 | FLG | c.6977C>G (p.Ala2326Gly)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307909G= | CA2479949382 | FLG | c.6977C= (p.Ala2326=)
| |
1 | g.152307909G>T | CA342049593 | FLG | c.6977C>A (p.Ala2326Glu)
| gnomAD v4 |
1 | g.152307910C>A | CA342049594 | FLG | c.6976G>T (p.Ala2326Ser)
| |
1 | g.152307910C= | CA2479949383 | FLG | c.6976G= (p.Ala2326=)
| |
1 | g.152307910C>G | CA1104955 | FLG | c.6976G>C (p.Ala2326Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152307910C>T | CA1104956 | FLG | c.6976G>A (p.Ala2326Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307911A= | CA2479949384 | FLG | c.6975T= (p.Ser2325=)
| |
1 | g.152307911A>C | CA342049600 | FLG | c.6975T>G (p.Ser2325Arg)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307911A>G | CA30549296 | FLG | c.6975T>C (p.Ser2325=)
| dbSNP gnomAD v4 |
1 | g.152307911A>T | CA342049597 | FLG | c.6975T>A (p.Ser2325Arg)
| |
1 | g.152307912C>A | CA342049603 | FLG | c.6974G>T (p.Ser2325Ile)
| |
1 | g.152307912C= | CA2479949385 | FLG | c.6974G= (p.Ser2325=)
| |
1 | g.152307912C>G | CA342049605 | FLG | c.6974G>C (p.Ser2325Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307912C>T | CA342049608 | FLG | c.6974G>A (p.Ser2325Asn)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307913T>A | CA342049612 | FLG | c.6973A>T (p.Ser2325Cys)
| |
1 | g.152307913T>C | CA342049614 | FLG | c.6973A>G (p.Ser2325Gly)
| |
1 | g.152307913T>G | CA342049617 | FLG | c.6973A>C (p.Ser2325Arg)
| |
1 | g.152307914T>A | CA420928797 | FLG | c.6972A>T (p.Ser2324=)
| |
1 | g.152307914T>C | CA420928800 | FLG | c.6972A>G (p.Ser2324=)
| |
1 | g.152307914T>G | CA420928798 | FLG | c.6972A>C (p.Ser2324=)
| |
1 | g.152307915G>A | CA342049621 | FLG | c.6971C>T (p.Ser2324Leu)
| COSMIC |
1 | g.152307915G>C | CA342049626 | FLG | c.6971C>G (p.Ser2324Ter)
| |
1 | g.152307915G>T | CA342049624 | FLG | c.6971C>A (p.Ser2324Ter)
| |
1 | g.152307916A>C | CA342049630 | FLG | c.6970T>G (p.Ser2324Ala)
| |
1 | g.152307916A>G | CA342049633 | FLG | c.6970T>C (p.Ser2324Pro)
| |
1 | g.152307916A>T | CA342049636 | FLG | c.6970T>A (p.Ser2324Thr)
| |
1 | g.152307917T>A | CA342049643 | FLG | c.6969A>T (p.Arg2323Ser)
| dbSNP gnomAD v4 |
1 | g.152307917T>C | CA420928807 | FLG | c.6969A>G (p.Arg2323=)
| |
1 | g.152307917T>G | CA342049644 | FLG | c.6969A>C (p.Arg2323Ser)
| |
1 | g.152307917T= | CA2479949386 | FLG | c.6969A= (p.Arg2323=)
| |
1 | g.152307918C>A | CA342049650 | FLG | c.6968G>T (p.Arg2323Ile)
| |
1 | g.152307918C= | CA2479949387 | FLG | c.6968G= (p.Arg2323=)
| |
1 | g.152307918C>G | CA1104957 | FLG | c.6968G>C (p.Arg2323Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307918C>T | CA342049654 | FLG | c.6968G>A (p.Arg2323Lys)
| gnomAD v4 |
1 | g.152307919T>A | CA342049659 | FLG | c.6967A>T (p.Arg2323Ter)
| |
1 | g.152307919T>C | CA342049661 | FLG | c.6967A>G (p.Arg2323Gly)
| |
1 | g.152307919T>G | CA420928810 | FLG | c.6967A>C (p.Arg2323=)
| |
1 | g.152307920T>A | CA420928813 | FLG | c.6966A>T (p.Ala2322=)
| |
1 | g.152307920T>C | CA420928814 | FLG | c.6966A>G (p.Ala2322=)
| |
1 | g.152307920T>G | CA420928816 | FLG | c.6966A>C (p.Ala2322=)
| |
1 | g.152307921G>A | CA342049671 | FLG | c.6965C>T (p.Ala2322Val)
| |
1 | g.152307921G>C | CA342049665 | FLG | c.6965C>G (p.Ala2322Gly)
| |
1 | g.152307921G>T | CA342049667 | FLG | c.6965C>A (p.Ala2322Glu)
| gnomAD v4 COSMIC |
1 | g.152307922C>A | CA342049674 | FLG | c.6964G>T (p.Ala2322Ser)
| dbSNP |
1 | g.152307922C= | CA1149129135 | FLG | c.6964G= (p.Ala2322=)
| |
1 | g.152307922C>G | CA342049676 | FLG | c.6964G>C (p.Ala2322Pro)
| |
1 | g.152307922C>T | CA1104958 | FLG | c.6964G>A (p.Ala2322Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307923C>A | CA342049681 | FLG | c.6963G>T (p.Gln2321His)
| |
1 | g.152307923C>G | CA342049682 | FLG | c.6963G>C (p.Gln2321His)
| |
1 | g.152307923C>T | CA420928823 | FLG | c.6963G>A (p.Gln2321=)
| |
1 | g.152307924T>A | CA342049685 | FLG | c.6962A>T (p.Gln2321Leu)
| |
1 | g.152307924T>C | CA342049689 | FLG | c.6962A>G (p.Gln2321Arg)
| |
1 | g.152307924T>G | CA342049691 | FLG | c.6962A>C (p.Gln2321Pro)
| ClinVar |
1 | g.152307925G>A | CA342049695 | FLG | c.6961C>T (p.Gln2321Ter)
| gnomAD v4 |
1 | g.152307925G>C | CA342049702 | FLG | c.6961C>G (p.Gln2321Glu)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307925G= | CA2479949388 | FLG | c.6961C= (p.Gln2321=)
| |
1 | g.152307925G>T | CA342049699 | FLG | c.6961C>A (p.Gln2321Lys)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307926T>A | CA342049703 | FLG | c.6960A>T (p.Glu2320Asp)
| |
1 | g.152307926T>C | CA420928834 | FLG | c.6960A>G (p.Glu2320=)
| |
1 | g.152307926T>G | CA342049708 | FLG | c.6960A>C (p.Glu2320Asp)
| |
1 | g.152307927T>A | CA342049710 | FLG | c.6959A>T (p.Glu2320Val)
| |
1 | g.152307927T>C | CA342049713 | FLG | c.6959A>G (p.Glu2320Gly)
| gnomAD v4 |
1 | g.152307927T>G | CA1104959 | FLG | c.6959A>C (p.Glu2320Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307927T= | CA1141816583 | FLG | c.6959A= (p.Glu2320=)
| |
1 | g.152307928C>A | CA342049720 | FLG | c.6958G>T (p.Glu2320Ter)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152307928C= | CA2479949390 | FLG | c.6958G= (p.Glu2320=)
| |
1 | g.152307928C>G | CA342049727 | FLG | c.6958G>C (p.Glu2320Gln)
| dbSNP gnomAD v4 |
1 | g.152307928C>T | CA342049724 | FLG | c.6958G>A (p.Glu2320Lys)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307928_152307936delinsCATGGGATG | CA2479949389 | FLG | c.6950_6958delinsCATCCCATG (p.Ser2317=)
| |
1 | g.152307929A= | CA2479949392 | FLG | c.6957T= (p.His2319=)
| |
1 | g.152307929A>C | CA342049730 | FLG | c.6957T>G (p.His2319Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307929A>G | CA420928838 | FLG | c.6957T>C (p.His2319=)
| dbSNP |
1 | g.152307929A>T | CA342049731 | FLG | c.6957T>A (p.His2319Gln)
| |
1 | g.152307929dup | CA2479949391 | FLG | c.6957dup (p.Glu2320Ter)
| dbSNP |
1 | g.152307929_152307939delinsATGGGATGATG | CA1148116138 | FLG | c.6947_6957delinsCATCATCCCAT (p.Ala2316=)
| |
1 | g.152307932_152307939del | CA1104960 | FLG | c.6950_6957del (p.Ser2317Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307930T>A | CA342049736 | FLG | c.6956A>T (p.His2319Leu)
| |
1 | g.152307930T>C | CA1104961 | FLG | c.6956A>G (p.His2319Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307930T>G | CA342049741 | FLG | c.6956A>C (p.His2319Pro)
| dbSNP gnomAD v4 |
1 | g.152307930T= | CA2479949393 | FLG | c.6956A= (p.His2319=)
| |
1 | g.152307931G>A | CA342049746 | FLG | c.6955C>T (p.His2319Tyr)
| gnomAD v4 |
1 | g.152307931G>C | CA342049748 | FLG | c.6955C>G (p.His2319Asp)
| |
1 | g.152307931G>T | CA342049749 | FLG | c.6955C>A (p.His2319Asn)
| |
1 | g.152307932G>A | CA420928847 | FLG | c.6954C>T (p.Ser2318=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307932G>C | CA30549318 | FLG | c.6954C>G (p.Ser2318=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307932G= | CA2479949394 | FLG | c.6954C= (p.Ser2318=)
| |
1 | g.152307932G>T | CA420928848 | FLG | c.6954C>A (p.Ser2318=)
| |
1 | g.152307933G>A | CA342049752 | FLG | c.6953C>T (p.Ser2318Phe)
| dbSNP gnomAD v4 |
1 | g.152307933G>C | CA342049753 | FLG | c.6953C>G (p.Ser2318Cys)
| |
1 | g.152307933G= | CA2479949395 | FLG | c.6953C= (p.Ser2318=)
| |
1 | g.152307933G>T | CA342049757 | FLG | c.6953C>A (p.Ser2318Tyr)
| |
1 | g.152307934A>C | CA342049761 | FLG | c.6952T>G (p.Ser2318Ala)
| |
1 | g.152307934A>G | CA342049766 | FLG | c.6952T>C (p.Ser2318Pro)
| gnomAD v4 |
1 | g.152307934A>T | CA342049764 | FLG | c.6952T>A (p.Ser2318Thr)
| |
1 | g.152307935T>A | CA420928852 | FLG | c.6951A>T (p.Ser2317=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307935T>C | CA420928853 | FLG | c.6951A>G (p.Ser2317=)
| |
1 | g.152307935T>G | CA420928856 | FLG | c.6951A>C (p.Ser2317=)
| |
1 | g.152307935T= | CA2479949396 | FLG | c.6951A= (p.Ser2317=)
| |
1 | g.152307936G>A | CA1104962 | FLG | c.6950C>T (p.Ser2317Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307936G>C | CA342049771 | FLG | c.6950C>G (p.Ser2317Ter)
| |
1 | g.152307936G= | CA1144863883 | FLG | c.6950C= (p.Ser2317=)
| |
1 | g.152307936G>T | CA342049773 | FLG | c.6950C>A (p.Ser2317Ter)
| |
1 | g.152307937A= | CA2479949397 | FLG | c.6949T= (p.Ser2317=)
| |
1 | g.152307937A>C | CA342049777 | FLG | c.6949T>G (p.Ser2317Ala)
| |
1 | g.152307937A>G | CA342049781 | FLG | c.6949T>C (p.Ser2317Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307937A>T | CA342049783 | FLG | c.6949T>A (p.Ser2317Thr)
| gnomAD v4 |
1 | g.152307938T>A | CA420928860 | FLG | c.6948A>T (p.Ala2316=)
| |
1 | g.152307938T>C | CA1104963 | FLG | c.6948A>G (p.Ala2316=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152307938T>G | CA1104964 | FLG | c.6948A>C (p.Ala2316=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307938T= | CA1141871984 | FLG | c.6948A= (p.Ala2316=)
| |
1 | g.152307939G>A | CA342049794 | FLG | c.6947C>T (p.Ala2316Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307939G>C | CA342049797 | FLG | c.6947C>G (p.Ala2316Gly)
| |
1 | g.152307939G= | CA2479949398 | FLG | c.6947C= (p.Ala2316=)
| |
1 | g.152307939G>T | CA342049799 | FLG | c.6947C>A (p.Ala2316Glu)
| |
1 | g.152307940C>A | CA342049802 | FLG | c.6946G>T (p.Ala2316Ser)
| |
1 | g.152307940C= | CA2479949399 | FLG | c.6946G= (p.Ala2316=)
| |
1 | g.152307940C>G | CA342049804 | FLG | c.6946G>C (p.Ala2316Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307940C>T | CA342049807 | FLG | c.6946G>A (p.Ala2316Thr)
| COSMIC |
1 | g.152307941A= | CA1145876224 | FLG | c.6945T= (p.Ala2315=)
| |
1 | g.152307941A>C | CA420928864 | FLG | c.6945T>G (p.Ala2315=)
| |
1 | g.152307941A>G | CA420928865 | FLG | c.6945T>C (p.Ala2315=)
| |
1 | g.152307941A>T | CA1104965 | FLG | c.6945T>A (p.Ala2315=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307942G>A | CA342049813 | FLG | c.6944C>T (p.Ala2315Val)
| gnomAD v4 |
1 | g.152307942G>C | CA342049815 | FLG | c.6944C>G (p.Ala2315Gly)
| |
1 | g.152307942G>T | CA342049818 | FLG | c.6944C>A (p.Ala2315Asp)
| |
1 | g.152307943C>A | CA342049821 | FLG | c.6943G>T (p.Ala2315Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307943C= | CA2479949400 | FLG | c.6943G= (p.Ala2315=)
| |
1 | g.152307943C>G | CA342049823 | FLG | c.6943G>C (p.Ala2315Pro)
| |
1 | g.152307943C>T | CA1104966 | FLG | c.6943G>A (p.Ala2315Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307944C>A | CA342049828 | FLG | c.6942G>T (p.Gln2314His)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307944C= | CA2479949401 | FLG | c.6942G= (p.Gln2314=)
| |
1 | g.152307944C>G | CA342049830 | FLG | c.6942G>C (p.Gln2314His)
| |
1 | g.152307944C>T | CA1104967 | FLG | c.6942G>A (p.Gln2314=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307945T>A | CA342049835 | FLG | c.6941A>T (p.Gln2314Leu)
| |
1 | g.152307945T>C | CA342049838 | FLG | c.6941A>G (p.Gln2314Arg)
| |
1 | g.152307945T>G | CA342049841 | FLG | c.6941A>C (p.Gln2314Pro)
| |
1 | g.152307946G>A | CA1104968 | FLG | c.6940C>T (p.Gln2314Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307946G>C | CA342049842 | FLG | c.6940C>G (p.Gln2314Glu)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307946G= | CA2479949402 | FLG | c.6940C= (p.Gln2314=)
| |
1 | g.152307946G>T | CA342049844 | FLG | c.6940C>A (p.Gln2314Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307947T>A | CA420928870 | FLG | c.6939A>T (p.Gly2313=)
| |
1 | g.152307947T>C | CA420928871 | FLG | c.6939A>G (p.Gly2313=)
| COSMIC |
1 | g.152307947T>G | CA420928873 | FLG | c.6939A>C (p.Gly2313=)
| |
1 | g.152307948C>A | CA30549371 | FLG | c.6938G>T (p.Gly2313Val)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307948C= | CA2479949403 | FLG | c.6938G= (p.Gly2313=)
| |
1 | g.152307948C>G | CA342049851 | FLG | c.6938G>C (p.Gly2313Ala)
| |
1 | g.152307948C>T | CA342049853 | FLG | c.6938G>A (p.Gly2313Glu)
| gnomAD v4 |
1 | g.152307949C>A | CA1104969 | FLG | c.6937G>T (p.Gly2313Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307949C= | CA2479949404 | FLG | c.6937G= (p.Gly2313=)
| |
1 | g.152307949C>G | CA342049859 | FLG | c.6937G>C (p.Gly2313Arg)
| |
1 | g.152307949C>T | CA342049862 | FLG | c.6937G>A (p.Gly2313Arg)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307950del | CA2647993500 | FLG | c.6936del (p.Gly2313AspfsTer?)
| gnomAD v4 |
1 | g.152307950A>C | CA420928881 | FLG | c.6936T>G (p.Gly2312=)
| |
1 | g.152307950A>G | CA420928879 | FLG | c.6936T>C (p.Gly2312=)
| gnomAD v4 COSMIC |
1 | g.152307950A>T | CA420928880 | FLG | c.6936T>A (p.Gly2312=)
| |
1 | g.152307951C>A | CA342049874 | FLG | c.6935G>T (p.Gly2312Val)
| gnomAD v4 |
1 | g.152307951C= | CA2479949405 | FLG | c.6935G= (p.Gly2312=)
| |
1 | g.152307951C>G | CA342049871 | FLG | c.6935G>C (p.Gly2312Ala)
| dbSNP gnomAD v4 |
1 | g.152307951C>T | CA342049866 | FLG | c.6935G>A (p.Gly2312Asp)
| gnomAD v4 |
1 | g.152307952C>A | CA342049880 | FLG | c.6934G>T (p.Gly2312Cys)
| |
1 | g.152307952C= | CA2479949406 | FLG | c.6934G= (p.Gly2312=)
| |
1 | g.152307952C>G | CA342049883 | FLG | c.6934G>C (p.Gly2312Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307952C>T | CA1104970 | FLG | c.6934G>A (p.Gly2312Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307953A>C | CA420928887 | FLG | c.6933T>G (p.Ser2311=)
| |
1 | g.152307953A>G | CA420928888 | FLG | c.6933T>C (p.Ser2311=)
| |
1 | g.152307953A>T | CA420928889 | FLG | c.6933T>A (p.Ser2311=)
| |
1 | g.152307954G>A | CA342049889 | FLG | c.6932C>T (p.Ser2311Phe)
| |
1 | g.152307954G>C | CA342049892 | FLG | c.6932C>G (p.Ser2311Cys)
| gnomAD v4 COSMIC |
1 | g.152307954G>T | CA342049895 | FLG | c.6932C>A (p.Ser2311Tyr)
| |
1 | g.152307955A= | CA2479949407 | FLG | c.6931T= (p.Ser2311=)
| |
1 | g.152307955A>C | CA342049896 | FLG | c.6931T>G (p.Ser2311Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307955A>G | CA342049901 | FLG | c.6931T>C (p.Ser2311Pro)
| |
1 | g.152307955A>T | CA342049900 | FLG | c.6931T>A (p.Ser2311Thr)
| gnomAD v4 |
1 | g.152307956G>A | CA420928890 | FLG | c.6930C>T (p.Ser2310=)
| dbSNP gnomAD v4 |
1 | g.152307956G>C | CA420928892 | FLG | c.6930C>G (p.Ser2310=)
| gnomAD v4 |
1 | g.152307956G= | CA2479949408 | FLG | c.6930C= (p.Ser2310=)
| |
1 | g.152307956G>T | CA420928895 | FLG | c.6930C>A (p.Ser2310=)
| |
1 | g.152307957G>A | CA342049904 | FLG | c.6929C>T (p.Ser2310Phe)
| gnomAD v4 COSMIC |
1 | g.152307957G>C | CA342049906 | FLG | c.6929C>G (p.Ser2310Cys)
| |
1 | g.152307957G= | CA2479949409 | FLG | c.6929C= (p.Ser2310=)
| |
1 | g.152307957G>T | CA342049907 | FLG | c.6929C>A (p.Ser2310Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307958A= | CA2479949410 | FLG | c.6928T= (p.Ser2310=)
| |
1 | g.152307958A>C | CA342049912 | FLG | c.6928T>G (p.Ser2310Ala)
| |
1 | g.152307958A>G | CA342049914 | FLG | c.6928T>C (p.Ser2310Pro)
| |
1 | g.152307958A>T | CA342049915 | FLG | c.6928T>A (p.Ser2310Thr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307958_152307960dup | CA1104971 | FLG | c.6926_6928dup (p.Asn2309_Ser2310insTyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307959A>C | CA342049919 | FLG | c.6927T>G (p.Asn2309Lys)
| |
1 | g.152307959A>G | CA420928896 | FLG | c.6927T>C (p.Asn2309=)
| gnomAD v4 |
1 | g.152307959A>T | CA342049921 | FLG | c.6927T>A (p.Asn2309Lys)
| gnomAD v4 |
1 | g.152307960T>A | CA342049923 | FLG | c.6926A>T (p.Asn2309Ile)
| gnomAD v4 |
1 | g.152307960T>C | CA342049925 | FLG | c.6926A>G (p.Asn2309Ser)
| |
1 | g.152307960T>G | CA1104972 | FLG | c.6926A>C (p.Asn2309Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307960T= | CA1143361227 | FLG | c.6926A= (p.Asn2309=)
| |
1 | g.152307961T>A | CA342049928 | FLG | c.6925A>T (p.Asn2309Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307961T>C | CA342049931 | FLG | c.6925A>G (p.Asn2309Asp)
| |
1 | g.152307961T>G | CA342049929 | FLG | c.6925A>C (p.Asn2309His)
| |
1 | g.152307961T= | CA2479949411 | FLG | c.6925A= (p.Asn2309=)
| |
1 | g.152307962C>A | CA342049933 | FLG | c.6924G>T (p.Glu2308Asp)
| gnomAD v4 |
1 | g.152307962C= | CA2479949412 | FLG | c.6924G= (p.Glu2308=)
| |
1 | g.152307962C>G | CA342049935 | FLG | c.6924G>C (p.Glu2308Asp)
| |
1 | g.152307962C>T | CA1104973 | FLG | c.6924G>A (p.Glu2308=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307963T>A | CA342049940 | FLG | c.6923A>T (p.Glu2308Val)
| |
1 | g.152307963T>C | CA342049941 | FLG | c.6923A>G (p.Glu2308Gly)
| |
1 | g.152307963T>G | CA342049943 | FLG | c.6923A>C (p.Glu2308Ala)
| |
1 | g.152307964C>A | CA342049945 | FLG | c.6922G>T (p.Glu2308Ter)
| |
1 | g.152307964C= | CA2479949413 | FLG | c.6922G= (p.Glu2308=)
| |
1 | g.152307964C>G | CA1104974 | FLG | c.6922G>C (p.Glu2308Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307964C>T | CA342049948 | FLG | c.6922G>A (p.Glu2308Lys)
| COSMIC |
1 | g.152307965T>A | CA420928909 | FLG | c.6921A>T (p.Ala2307=)
| |
1 | g.152307965T>C | CA420928905 | FLG | c.6921A>G (p.Ala2307=)
| gnomAD v4 |
1 | g.152307965T>G | CA420928906 | FLG | c.6921A>C (p.Ala2307=)
| |
1 | g.152307966G>A | CA342049949 | FLG | c.6920C>T (p.Ala2307Val)
| |
1 | g.152307966G>C | CA342049951 | FLG | c.6920C>G (p.Ala2307Gly)
| |
1 | g.152307966G= | CA2479949414 | FLG | c.6920C= (p.Ala2307=)
| |
1 | g.152307966G>T | CA342049953 | FLG | c.6920C>A (p.Ala2307Glu)
| dbSNP |
1 | g.152307967C>A | CA342049959 | FLG | c.6919G>T (p.Ala2307Ser)
| |
1 | g.152307967C= | CA1143459637 | FLG | c.6919G= (p.Ala2307=)
| |
1 | g.152307967C>G | CA342049957 | FLG | c.6919G>C (p.Ala2307Pro)
| |
1 | g.152307967C>T | CA1104975 | FLG | c.6919G>A (p.Ala2307Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307968A= | CA1141691280 | FLG | c.6918T= (p.His2306=)
| |
1 | g.152307968A>C | CA342049962 | FLG | c.6918T>G (p.His2306Gln)
| gnomAD v4 |
1 | g.152307968A>G | CA1104976 | FLG | c.6918T>C (p.His2306=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307968A>T | CA342049965 | FLG | c.6918T>A (p.His2306Gln)
| |
1 | g.152307969T>A | CA342049968 | FLG | c.6917A>T (p.His2306Leu)
| gnomAD v4 |
1 | g.152307969T>C | CA1104977 | FLG | c.6917A>G (p.His2306Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307969T>G | CA342049973 | FLG | c.6917A>C (p.His2306Pro)
| |
1 | g.152307969T= | CA2479949415 | FLG | c.6917A= (p.His2306=)
| |
1 | g.152307970G>A | CA342049976 | FLG | c.6916C>T (p.His2306Tyr)
| gnomAD v4 COSMIC |
1 | g.152307970G>C | CA342049977 | FLG | c.6916C>G (p.His2306Asp)
| |
1 | g.152307970G>T | CA342049980 | FLG | c.6916C>A (p.His2306Asn)
| |
1 | g.152307971A= | CA2479949416 | FLG | c.6915T= (p.His2305=)
| |
1 | g.152307971A>C | CA1104978 | FLG | c.6915T>G (p.His2305Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307971A>G | CA420928556 | FLG | c.6915T>C (p.His2305=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152307971A>T | CA342049985 | FLG | c.6915T>A (p.His2305Gln)
| gnomAD v4 |
1 | g.152307972T>A | CA342049989 | FLG | c.6914A>T (p.His2305Leu)
| gnomAD v4 |
1 | g.152307972T>C | CA1104979 | FLG | c.6914A>G (p.His2305Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152307972T>G | CA342049990 | FLG | c.6914A>C (p.His2305Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307972T= | CA2479949417 | FLG | c.6914A= (p.His2305=)
| |
1 | g.152307973G>A | CA342049993 | FLG | c.6913C>T (p.His2305Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307973G>C | CA342049997 | FLG | c.6913C>G (p.His2305Asp)
| |
1 | g.152307973G= | CA2479949418 | FLG | c.6913C= (p.His2305=)
| |
1 | g.152307973G>T | CA342049994 | FLG | c.6913C>A (p.His2305Asn)
| gnomAD v4 |
1 | g.152307974A>C | CA420928558 | FLG | c.6912T>G (p.Thr2304=)
| gnomAD v4 |
1 | g.152307974A>G | CA420928559 | FLG | c.6912T>C (p.Thr2304=)
| |
1 | g.152307974A>T | CA420928560 | FLG | c.6912T>A (p.Thr2304=)
| |
1 | g.152307975G>A | CA342050000 | FLG | c.6911C>T (p.Thr2304Ile)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152307975G>C | CA1104980 | FLG | c.6911C>G (p.Thr2304Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307975G= | CA1148305189 | FLG | c.6911C= (p.Thr2304=)
| |
1 | g.152307975G>T | CA342050002 | FLG | c.6911C>A (p.Thr2304Asn)
| |
1 | g.152307976T>A | CA1104981 | FLG | c.6910A>T (p.Thr2304Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307976T>C | CA342050005 | FLG | c.6910A>G (p.Thr2304Ala)
| dbSNP |
1 | g.152307976T>G | CA342050004 | FLG | c.6910A>C (p.Thr2304Pro)
| |
1 | g.152307976T= | CA2479949419 | FLG | c.6910A= (p.Thr2304=)
| |
1 | g.152307977G>A | CA420928565 | FLG | c.6909C>T (p.Gly2303=)
| dbSNP gnomAD v4 |
1 | g.152307977G>C | CA420928566 | FLG | c.6909C>G (p.Gly2303=)
| |
1 | g.152307977G= | CA2479949420 | FLG | c.6909C= (p.Gly2303=)
| |
1 | g.152307977G>T | CA420928567 | FLG | c.6909C>A (p.Gly2303=)
| gnomAD v4 COSMIC |
1 | g.152307978C>A | CA342050009 | FLG | c.6908G>T (p.Gly2303Val)
| |
1 | g.152307978C= | CA2479949421 | FLG | c.6908G= (p.Gly2303=)
| |
1 | g.152307978C>G | CA342050011 | FLG | c.6908G>C (p.Gly2303Ala)
| |
1 | g.152307978C>T | CA342050014 | FLG | c.6908G>A (p.Gly2303Asp)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307979del | CA2574058009 | FLG | c.6908del (p.Gly2303AlafsTer?)
| |
1 | g.152307979C>A | CA342050017 | FLG | c.6907G>T (p.Gly2303Cys)
| |
1 | g.152307979C= | CA1142054853 | FLG | c.6907G= (p.Gly2303=)
| |
1 | g.152307979C>G | CA1104982 | FLG | c.6907G>C (p.Gly2303Arg)
| dbSNP ExAC gnomAD v4 |
1 | g.152307979C>T | CA342050018 | FLG | c.6907G>A (p.Gly2303Ser)
| |
1 | g.152307980T>A | CA420928569 | FLG | c.6906A>T (p.Ser2302=)
| |
1 | g.152307980T>C | CA420928570 | FLG | c.6906A>G (p.Ser2302=)
| |
1 | g.152307980T>G | CA420928572 | FLG | c.6906A>C (p.Ser2302=)
| |
1 | g.152307981G>A | CA342050021 | FLG | c.6905C>T (p.Ser2302Leu)
| |
1 | g.152307981G>C | CA342050023 | FLG | c.6905C>G (p.Ser2302Ter)
| gnomAD v4 |
1 | g.152307981G>T | CA342050025 | FLG | c.6905C>A (p.Ser2302Ter)
| |
1 | g.152307982A= | CA2479949422 | FLG | c.6904T= (p.Ser2302=)
| |
1 | g.152307982A>C | CA342050028 | FLG | c.6904T>G (p.Ser2302Ala)
| dbSNP gnomAD v4 |
1 | g.152307982A>G | CA342050030 | FLG | c.6904T>C (p.Ser2302Pro)
| |
1 | g.152307982A>T | CA342050032 | FLG | c.6904T>A (p.Ser2302Thr)
| |
1 | g.152307983T>A | CA342050035 | FLG | c.6903A>T (p.Gln2301His)
| |
1 | g.152307983T>C | CA420928575 | FLG | c.6903A>G (p.Gln2301=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307983T>G | CA342050037 | FLG | c.6903A>C (p.Gln2301His)
| |
1 | g.152307983T= | CA2479949423 | FLG | c.6903A= (p.Gln2301=)
| |
1 | g.152307983_152307987delinsTTGTC | CA2479949424 | FLG | c.6899_6903delinsGACAA (p.Arg2300=)
| |
1 | g.152307984T>A | CA342050040 | FLG | c.6902A>T (p.Gln2301Leu)
| dbSNP gnomAD v4 |
1 | g.152307984T>C | CA342050041 | FLG | c.6902A>G (p.Gln2301Arg)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307984T>G | CA342050043 | FLG | c.6902A>C (p.Gln2301Pro)
| dbSNP gnomAD v4 |
1 | g.152307984T= | CA2479949426 | FLG | c.6902A= (p.Gln2301=)
| |
1 | g.152307986_152307989del | CA2479949425 | FLG | c.6899_6902del (p.Arg2300AsnfsTer?)
| dbSNP gnomAD v4 |
1 | g.152307985G>A | CA1104983 | FLG | c.6901C>T (p.Gln2301Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307985G>C | CA342050045 | FLG | c.6901C>G (p.Gln2301Glu)
| |
1 | g.152307985G= | CA1148433329 | FLG | c.6901C= (p.Gln2301=)
| |
1 | g.152307985G>T | CA1104984 | FLG | c.6901C>A (p.Gln2301Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307986T>A | CA342050050 | FLG | c.6900A>T (p.Arg2300Ser)
| |
1 | g.152307986T>C | CA420928582 | FLG | c.6900A>G (p.Arg2300=)
| gnomAD v4 |
1 | g.152307986T>G | CA342050052 | FLG | c.6900A>C (p.Arg2300Ser)
| |
1 | g.152307987C>A | CA342050055 | FLG | c.6899G>T (p.Arg2300Ile)
| |
1 | g.152307987C= | CA2479949427 | FLG | c.6899G= (p.Arg2300=)
| |
1 | g.152307987C>G | CA342050057 | FLG | c.6899G>C (p.Arg2300Thr)
| |
1 | g.152307987C>T | CA1104985 | FLG | c.6899G>A (p.Arg2300Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307988T>A | CA342050059 | FLG | c.6898A>T (p.Arg2300Ter)
| |
1 | g.152307988T>C | CA1104986 | FLG | c.6898A>G (p.Arg2300Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307988T>G | CA420928594 | FLG | c.6898A>C (p.Arg2300=)
| |
1 | g.152307988T= | CA1148876037 | FLG | c.6898A= (p.Arg2300=)
| |
1 | g.152307989G>A | CA420928595 | FLG | c.6897C>T (p.Ser2299=)
| gnomAD v4 |
1 | g.152307989G>C | CA420928596 | FLG | c.6897C>G (p.Ser2299=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307989G= | CA2479949428 | FLG | c.6897C= (p.Ser2299=)
| |
1 | g.152307989G>T | CA420928597 | FLG | c.6897C>A (p.Ser2299=)
| COSMIC |
1 | g.152307990G>A | CA342050065 | FLG | c.6896C>T (p.Ser2299Phe)
| |
1 | g.152307990G>C | CA342050067 | FLG | c.6896C>G (p.Ser2299Cys)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307990G= | CA2479949429 | FLG | c.6896C= (p.Ser2299=)
| |
1 | g.152307990G>T | CA342050069 | FLG | c.6896C>A (p.Ser2299Tyr)
| gnomAD v3 gnomAD v4 |
1 | g.152307991A>C | CA342050071 | FLG | c.6895T>G (p.Ser2299Ala)
| |
1 | g.152307991A>G | CA342050074 | FLG | c.6895T>C (p.Ser2299Pro)
| |
1 | g.152307991A>T | CA342050076 | FLG | c.6895T>A (p.Ser2299Thr)
| |
1 | g.152307992G>A | CA420928606 | FLG | c.6894C>T (p.Ser2298=)
| gnomAD v4 |
1 | g.152307992G>C | CA342050079 | FLG | c.6894C>G (p.Ser2298Arg)
| |
1 | g.152307992G>T | CA342050081 | FLG | c.6894C>A (p.Ser2298Arg)
| |
1 | g.152307993C>A | CA342050084 | FLG | c.6893G>T (p.Ser2298Ile)
| |
1 | g.152307993C>G | CA342050086 | FLG | c.6893G>C (p.Ser2298Thr)
| gnomAD v4 |
1 | g.152307993C>T | CA342050088 | FLG | c.6893G>A (p.Ser2298Asn)
| |
1 | g.152307994T>A | CA342050092 | FLG | c.6892A>T (p.Ser2298Cys)
| |
1 | g.152307994T>C | CA1104987 | FLG | c.6892A>G (p.Ser2298Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307994T>G | CA30549427 | FLG | c.6892A>C (p.Ser2298Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307994T= | CA1144093503 | FLG | c.6892A= (p.Ser2298=)
| |
1 | g.152307995C>A | CA342050094 | FLG | c.6891G>T (p.Glu2297Asp)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307995C= | CA1141079674 | FLG | c.6891G= (p.Glu2297=)
| |
1 | g.152307995C>G | CA1104988 | FLG | c.6891G>C (p.Glu2297Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307995C>T | CA420928609 | FLG | c.6891G>A (p.Glu2297=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307996T>A | CA1104989 | FLG | c.6890A>T (p.Glu2297Val)
| dbSNP ExAC gnomAD v4 |
1 | g.152307996T>C | CA342050099 | FLG | c.6890A>G (p.Glu2297Gly)
| COSMIC |
1 | g.152307996T>G | CA342050101 | FLG | c.6890A>C (p.Glu2297Ala)
| |
1 | g.152307996T= | CA2479949430 | FLG | c.6890A= (p.Glu2297=)
| |