| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24956363C>A | CA460020760 | NEFL | c.153G>T (p.Leu51=) n.359G>T | |
| 8 | g.24956363C>G | CA460020761 | NEFL | c.153G>C (p.Leu51=) n.359G>C | |
| 8 | g.24956363C>T | CA460020762 | NEFL | c.153G>A (p.Leu51=) n.359G>A | |
| 8 | g.24956364A>C | CA370623867 | NEFL | c.152T>G (p.Leu51Arg) n.358T>G | |
| 8 | g.24956364A>G | CA370623868 | NEFL | c.152T>C (p.Leu51Pro) n.358T>C | |
| 8 | g.24956364A>T | CA370623869 | NEFL | c.152T>A (p.Leu51Gln) n.358T>A | |
| 8 | g.24956365G>A | CA460020763 | NEFL | c.151C>T (p.Leu51=) n.357C>T | |
| 8 | g.24956365G>C | CA370623871 | NEFL | c.151C>G (p.Leu51Val) n.357C>G | |
| 8 | g.24956365G>T | CA370623873 | NEFL | c.151C>A (p.Leu51Met) n.357C>A | |
| 8 | g.24956366C>A | CA460020764 | NEFL | c.150G>T (p.Ser50=) n.356G>T | dbSNP |
| 8 | g.24956366C>G | CA460020765 | NEFL | c.150G>C (p.Ser50=) n.356G>C | |
| 8 | g.24956366C>T | CA460020766 | NEFL | c.150G>A (p.Ser50=) n.356G>A | gnomAD v4 |
| 8 | g.24956367G>A | CA370623874 | NEFL | c.149C>T (p.Ser50Leu) n.355C>T | ClinVar dbSNP gnomAD v2 |
| 8 | g.24956367G>C | CA370623875 | NEFL | c.149C>G (p.Ser50Trp) n.355C>G | |
| 8 | g.24956367G= | CA1771621322 | NEFL | c.149C= (p.Ser50=) n.355C= | |
| 8 | g.24956367G>T | CA4681546 | NEFL | c.149C>A (p.Ser50Ter) n.355C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.24956368A>C | CA370623881 | NEFL | c.148T>G (p.Ser50Ala) n.354T>G | |
| 8 | g.24956368A>G | CA370623879 | NEFL | c.148T>C (p.Ser50Pro) n.354T>C | gnomAD v4 |
| 8 | g.24956368A>T | CA370623878 | NEFL | c.148T>A (p.Ser50Thr) n.354T>A | |
| 8 | g.24956369G>A | CA460020769 | NEFL | c.147C>T (p.Ser49=) n.353C>T | |
| 8 | g.24956369G>C | CA460020768 | NEFL | c.147C>G (p.Ser49=) n.353C>G | ClinVar dbSNP |
| 8 | g.24956369G>T | CA460020767 | NEFL | c.147C>A (p.Ser49=) n.353C>A | |
| 8 | g.24956370G>A | CA174061854 | NEFL | c.146C>T (p.Ser49Phe) n.352C>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.24956370G>C | CA370623882 | NEFL | c.146C>G (p.Ser49Cys) n.352C>G | |
| 8 | g.24956370G= | CA1771621329 | NEFL | c.146C= (p.Ser49=) n.352C= | |
| 8 | g.24956370G>T | CA370623884 | NEFL | c.146C>A (p.Ser49Tyr) n.352C>A | |
| 8 | g.24956371A>C | CA370623886 | NEFL | c.145T>G (p.Ser49Ala) n.351T>G | |
| 8 | g.24956371A>G | CA370623887 | NEFL | c.145T>C (p.Ser49Pro) n.351T>C | |
| 8 | g.24956371A>T | CA370623889 | NEFL | c.145T>A (p.Ser49Thr) n.351T>A | |
| 8 | g.24956372A>C | CA460020772 | NEFL | c.144T>G (p.Ser48=) n.350T>G | |
| 8 | g.24956372A>G | CA460020771 | NEFL | c.144T>C (p.Ser48=) n.350T>C | dbSNP |
| 8 | g.24956372A>T | CA460020770 | NEFL | c.144T>A (p.Ser48=) n.350T>A | |
| 8 | g.24956373G>A | CA370623890 | NEFL | c.143C>T (p.Ser48Phe) n.349C>T | |
| 8 | g.24956373G>C | CA370623891 | NEFL | c.143C>G (p.Ser48Cys) n.349C>G | dbSNP |
| 8 | g.24956373G>T | CA370623893 | NEFL | c.143C>A (p.Ser48Tyr) n.349C>A | |
| 8 | g.24956374A>C | CA370623894 | NEFL | c.142T>G (p.Ser48Ala) n.348T>G | |
| 8 | g.24956374A>G | CA370623896 | NEFL | c.142T>C (p.Ser48Pro) n.348T>C | |
| 8 | g.24956374A>T | CA370623898 | NEFL | c.142T>A (p.Ser48Thr) n.348T>A | |
| 8 | g.24956375C>A | CA460020773 | NEFL | c.141G>T (p.Val47=) n.347G>T | |
| 8 | g.24956375C= | CA1771621340 | NEFL | c.141G= (p.Val47=) n.347G= | |
| 8 | g.24956375C>G | CA460020774 | NEFL | c.141G>C (p.Val47=) n.347G>C | dbSNP |
| 8 | g.24956375C>T | CA10627544 | NEFL | c.141G>A (p.Val47=) n.347G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.24956376A= | CA1771621342 | NEFL | c.140T= (p.Val47=) n.346T= | |
| 8 | g.24956376A>C | CA370623902 | NEFL | c.140T>G (p.Val47Gly) n.346T>G | gnomAD v4 |
| 8 | g.24956376A>G | CA370623903 | NEFL | c.140T>C (p.Val47Ala) n.346T>C | dbSNP |
| 8 | g.24956376A>T | CA370623900 | NEFL | c.140T>A (p.Val47Glu) n.346T>A | |
| 8 | g.24956377C>A | CA4681547 | NEFL | c.139G>T (p.Val47Leu) n.345G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.24956377C= | CA1771621345 | NEFL | c.139G= (p.Val47=) n.345G= | |
| 8 | g.24956377C>G | CA370623904 | NEFL | c.139G>C (p.Val47Leu) n.345G>C | |
| 8 | g.24956377C>T | CA370623906 | NEFL | c.139G>A (p.Val47Met) n.345G>A | gnomAD v4 |
| 8 | g.24956378C>A | CA460020775 | NEFL | c.138G>T (p.Pro46=) n.344G>T | gnomAD v4 |
| 8 | g.24956378C>G | CA460020776 | NEFL | c.138G>C (p.Pro46=) n.344G>C | dbSNP |
| 8 | g.24956378C>T | CA460020777 | NEFL | c.138G>A (p.Pro46=) n.344G>A | gnomAD v4 |
| 8 | g.24956379G>A | CA370623908 | NEFL | c.137C>T (p.Pro46Leu) n.343C>T | gnomAD v4 |
| 8 | g.24956379G>C | CA370623910 | NEFL | c.137C>G (p.Pro46Arg) n.343C>G | ClinVar gnomAD v4 |
| 8 | g.24956379G>T | CA370623911 | NEFL | c.137C>A (p.Pro46Gln) n.343C>A | |
| 8 | g.24956380G>A | CA370623915 | NEFL | c.136C>T (p.Pro46Ser) n.342C>T | |
| 8 | g.24956380G>C | CA370623914 | NEFL | c.136C>G (p.Pro46Ala) n.342C>G | |
| 8 | g.24956380G>T | CA370623912 | NEFL | c.136C>A (p.Pro46Thr) n.342C>A | |
| 8 | g.24956381C>A | CA460020778 | NEFL | c.135G>T (p.Ala45=) n.341G>T | gnomAD v4 |
| 8 | g.24956381C>G | CA460020779 | NEFL | c.135G>C (p.Ala45=) n.341G>C | gnomAD v4 |
| 8 | g.24956381C>T | CA460020780 | NEFL | c.135G>A (p.Ala45=) n.341G>A | gnomAD v4 |
| 8 | g.24956382G>A | CA370623917 | NEFL | c.134C>T (p.Ala45Val) n.340C>T | ClinVar |
| 8 | g.24956382G>C | CA370623919 | NEFL | c.134C>G (p.Ala45Gly) n.340C>G | |
| 8 | g.24956382G>T | CA370623920 | NEFL | c.134C>A (p.Ala45Glu) n.340C>A | gnomAD v4 |
| 8 | g.24956383C>A | CA370623921 | NEFL | c.133G>T (p.Ala45Ser) n.339G>T | |
| 8 | g.24956383C>G | CA370623923 | NEFL | c.133G>C (p.Ala45Pro) n.339G>C | gnomAD v4 |
| 8 | g.24956383C>T | CA370623925 | NEFL | c.133G>A (p.Ala45Thr) n.339G>A | |
| 8 | g.24956384C>A | CA460020781 | NEFL | c.132G>T (p.Ser44=) n.338G>T | |
| 8 | g.24956384C>G | CA460020782 | NEFL | c.132G>C (p.Ser44=) n.338G>C | dbSNP gnomAD v4 |
| 8 | g.24956384C>T | CA460020783 | NEFL | c.132G>A (p.Ser44=) n.338G>A | |
| 8 | g.24956385G>A | CA370623926 | NEFL | c.131C>T (p.Ser44Leu) n.337C>T | gnomAD v4 |
| 8 | g.24956385G>C | CA370623929 | NEFL | c.131C>G (p.Ser44Trp) n.337C>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956385G= | CA1771621346 | NEFL | c.131C= (p.Ser44=) n.337C= | |
| 8 | g.24956385G>T | CA370623927 | NEFL | c.131C>A (p.Ser44Ter) n.337C>A | gnomAD v4 |
| 8 | g.24956386_24956387del | CA2686596915 | NEFL | c.130_131del (p.Ser44GlyfsTer?) n.336_337del | gnomAD v4 |
| 8 | g.24956386A>C | CA370623931 | NEFL | c.130T>G (p.Ser44Ala) n.336T>G | |
| 8 | g.24956386A>G | CA370623933 | NEFL | c.130T>C (p.Ser44Pro) n.336T>C | |
| 8 | g.24956386A>T | CA370623934 | NEFL | c.130T>A (p.Ser44Thr) n.336T>A | |
| 8 | g.24956387G>A | CA460020784 | NEFL | c.129C>T (p.Tyr43=) n.335C>T | |
| 8 | g.24956387G>C | CA370623935 | NEFL | c.129C>G (p.Tyr43Ter) n.335C>G | |
| 8 | g.24956387G>T | CA370623937 | NEFL | c.129C>A (p.Tyr43Ter) n.335C>A | |
| 8 | g.24956388T>A | CA370623938 | NEFL | c.128A>T (p.Tyr43Phe) n.334A>T | |
| 8 | g.24956388T>C | CA370623939 | NEFL | c.128A>G (p.Tyr43Cys) n.334A>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956388T>G | CA370623940 | NEFL | c.128A>C (p.Tyr43Ser) n.334A>C | |
| 8 | g.24956388T= | CA1771621350 | NEFL | c.128A= (p.Tyr43=) n.334A= | |
| 8 | g.24956388_24956389insCCT | CA2686596916 | NEFL | c.128_129insGGA (p.Tyr43Ter) n.334_335insGGA | gnomAD v4 |
| 8 | g.24956389A>C | CA370623942 | NEFL | c.127T>G (p.Tyr43Asp) n.333T>G | |
| 8 | g.24956389A>G | CA370623943 | NEFL | c.127T>C (p.Tyr43His) n.333T>C | |
| 8 | g.24956389A>T | CA370623945 | NEFL | c.127T>A (p.Tyr43Asn) n.333T>A | |
| 8 | g.24956390G>A | CA460020785 | NEFL | c.126C>T (p.Ser42=) n.332C>T | |
| 8 | g.24956390G>C | CA370623948 | NEFL | c.126C>G (p.Ser42Arg) n.332C>G | ClinVar dbSNP |
| 8 | g.24956390G= | CA1771621352 | NEFL | c.126C= (p.Ser42=) n.332C= | |
| 8 | g.24956390G>T | CA370623947 | NEFL | c.126C>A (p.Ser42Arg) n.332C>A | gnomAD v4 |
| 8 | g.24956391C>A | CA370623949 | NEFL | c.125G>T (p.Ser42Ile) n.331G>T | |
| 8 | g.24956391C>G | CA370623951 | NEFL | c.125G>C (p.Ser42Thr) n.331G>C | |
| 8 | g.24956391C>T | CA370623952 | NEFL | c.125G>A (p.Ser42Asn) n.331G>A | |
| 8 | g.24956392T>A | CA370623954 | NEFL | c.124A>T (p.Ser42Cys) n.330A>T | |
| 8 | g.24956392T>C | CA370623956 | NEFL | c.124A>G (p.Ser42Gly) n.330A>G | |
| 8 | g.24956392T>G | CA370623957 | NEFL | c.124A>C (p.Ser42Arg) n.330A>C | |
| 8 | g.24956393G>A | CA217495 | NEFL | c.123C>T (p.Ser41=) n.329C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.24956393G>C | CA460020786 | NEFL | c.123C>G (p.Ser41=) n.329C>G | dbSNP |
| 8 | g.24956393G= | CA1771621365 | NEFL | c.123C= (p.Ser41=) n.329C= | |
| 8 | g.24956393G>T | CA460020787 | NEFL | c.123C>A (p.Ser41=) n.329C>A | |
| 8 | g.24956394G>A | CA370623963 | NEFL | c.122C>T (p.Ser41Phe) n.328C>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956394G>C | CA370623959 | NEFL | c.122C>G (p.Ser41Cys) n.328C>G | |
| 8 | g.24956394G= | CA1771621369 | NEFL | c.122C= (p.Ser41=) n.328C= | |
| 8 | g.24956394G>T | CA370623961 | NEFL | c.122C>A (p.Ser41Tyr) n.328C>A | |
| 8 | g.24956395A= | CA1771621375 | NEFL | c.121T= (p.Ser41=) n.327T= | |
| 8 | g.24956395A>C | CA4681548 | NEFL | c.121T>G (p.Ser41Ala) n.327T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.24956395A>G | CA370623964 | NEFL | c.121T>C (p.Ser41Pro) n.327T>C | |
| 8 | g.24956395A>T | CA370623965 | NEFL | c.121T>A (p.Ser41Thr) n.327T>A | |
| 8 | g.24956396G>A | CA460020788 | NEFL | c.120C>T (p.Tyr40=) n.326C>T | dbSNP gnomAD v2 |
| 8 | g.24956396G>C | CA370623966 | NEFL | c.120C>G (p.Tyr40Ter) n.326C>G | |
| 8 | g.24956396G= | CA1771621380 | NEFL | c.120C= (p.Tyr40=) n.326C= | |
| 8 | g.24956396G>T | CA370623967 | NEFL | c.120C>A (p.Tyr40Ter) n.326C>A | |
| 8 | g.24956397T>A | CA370623969 | NEFL | c.119A>T (p.Tyr40Phe) n.325A>T | |
| 8 | g.24956397T>C | CA370623973 | NEFL | c.119A>G (p.Tyr40Cys) n.325A>G | gnomAD v4 |
| 8 | g.24956397T>G | CA370623971 | NEFL | c.119A>C (p.Tyr40Ser) n.325A>C | |
| 8 | g.24956398A>C | CA370623974 | NEFL | c.118T>G (p.Tyr40Asp) n.324T>G | |
| 8 | g.24956398A>G | CA370623975 | NEFL | c.118T>C (p.Tyr40His) n.324T>C | |
| 8 | g.24956398A>T | CA370623977 | NEFL | c.118T>A (p.Tyr40Asn) n.324T>A | |
| 8 | g.24956399A>C | CA460020789 | NEFL | c.117T>G (p.Ala39=) n.323T>G | |
| 8 | g.24956399A>G | CA460020790 | NEFL | c.117T>C (p.Ala39=) n.323T>C | |
| 8 | g.24956399A>T | CA460020791 | NEFL | c.117T>A (p.Ala39=) n.323T>A | |
| 8 | g.24956400G>A | CA370623979 | NEFL | c.116C>T (p.Ala39Val) n.322C>T | |
| 8 | g.24956400G>C | CA370623981 | NEFL | c.116C>G (p.Ala39Gly) n.322C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.24956400G= | CA1771621383 | NEFL | c.116C= (p.Ala39=) n.322C= | |
| 8 | g.24956400G>T | CA370623982 | NEFL | c.116C>A (p.Ala39Asp) n.322C>A | |
| 8 | g.24956401C>A | CA370623984 | NEFL | c.115G>T (p.Ala39Ser) n.321G>T | |
| 8 | g.24956401C= | CA1771621388 | NEFL | c.115G= (p.Ala39=) n.321G= | |
| 8 | g.24956401C>G | CA370623986 | NEFL | c.115G>C (p.Ala39Pro) n.321G>C | |
| 8 | g.24956401C>T | CA370623987 | NEFL | c.115G>A (p.Ala39Thr) n.321G>A | dbSNP |
| 8 | g.24956402T>A | CA460020794 | NEFL | c.114A>T (p.Ser38=) n.320A>T | ClinVar gnomAD v4 |
| 8 | g.24956402T>C | CA460020792 | NEFL | c.114A>G (p.Ser38=) n.320A>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.24956402T>G | CA460020793 | NEFL | c.114A>C (p.Ser38=) n.320A>C | |
| 8 | g.24956402T= | CA1771621392 | NEFL | c.114A= (p.Ser38=) n.320A= | |
| 8 | g.24956403G>A | CA370623989 | NEFL | c.113C>T (p.Ser38Leu) n.319C>T | |
| 8 | g.24956403G>C | CA370623990 | NEFL | c.113C>G (p.Ser38Ter) n.319C>G | |
| 8 | g.24956403G>T | CA370623991 | NEFL | c.113C>A (p.Ser38Ter) n.319C>A | |
| 8 | g.24956404A>C | CA370623997 | NEFL | c.112T>G (p.Ser38Ala) n.318T>G | |
| 8 | g.24956404A>G | CA370623995 | NEFL | c.112T>C (p.Ser38Pro) n.318T>C | |
| 8 | g.24956404A>T | CA370623994 | NEFL | c.112T>A (p.Ser38Thr) n.318T>A | |
| 8 | g.24956405G>A | CA460020795 | NEFL | c.111C>T (p.Arg37=) n.317C>T | |
| 8 | g.24956405G>C | CA460020796 | NEFL | c.111C>G (p.Arg37=) n.317C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.24956405G= | CA1771621399 | NEFL | c.111C= (p.Arg37=) n.317C= | |
| 8 | g.24956405G>T | CA460020797 | NEFL | c.111C>A (p.Arg37=) n.317C>A | |
| 8 | g.24956406C>A | CA370623998 | NEFL | c.110G>T (p.Arg37Leu) n.316G>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956406C= | CA1771621400 | NEFL | c.110G= (p.Arg37=) n.316G= | |
| 8 | g.24956406C>G | CA370624002 | NEFL | c.110G>C (p.Arg37Pro) n.316G>C | |
| 8 | g.24956406C>T | CA370624000 | NEFL | c.110G>A (p.Arg37His) n.316G>A | dbSNP gnomAD v4 |
| 8 | g.24956407G>A | CA4681549 | NEFL | c.109C>T (p.Arg37Cys) n.315C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.24956407G>C | CA370624004 | NEFL | c.109C>G (p.Arg37Gly) n.315C>G | |
| 8 | g.24956407G= | CA1771621405 | NEFL | c.109C= (p.Arg37=) n.315C= | |
| 8 | g.24956407G>T | CA370624003 | NEFL | c.109C>A (p.Arg37Ser) n.315C>A | |
| 8 | g.24956408T>A | CA460020798 | NEFL | c.108A>T (p.Ala36=) n.314A>T | |
| 8 | g.24956408T>C | CA460020799 | NEFL | c.108A>G (p.Ala36=) n.314A>G | ClinVar |
| 8 | g.24956408T>G | CA460020800 | NEFL | c.108A>C (p.Ala36=) n.314A>C | |
| 8 | g.24956409G>A | CA370624005 | NEFL | c.107C>T (p.Ala36Val) n.313C>T | |
| 8 | g.24956409G>C | CA370624008 | NEFL | c.107C>G (p.Ala36Gly) n.313C>G | |
| 8 | g.24956409G>T | CA370624007 | NEFL | c.107C>A (p.Ala36Glu) n.313C>A | |
| 8 | g.24956410C>A | CA370624010 | NEFL | c.106G>T (p.Ala36Ser) n.312G>T | |
| 8 | g.24956410C= | CA1771621410 | NEFL | c.106G= (p.Ala36=) n.312G= | |
| 8 | g.24956410C>G | CA370624013 | NEFL | c.106G>C (p.Ala36Pro) n.312G>C | |
| 8 | g.24956410C>T | CA370624011 | NEFL | c.106G>A (p.Ala36Thr) n.312G>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956411G>A | CA460020801 | NEFL | c.105C>T (p.Thr35=) n.311C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956411G>C | CA460020802 | NEFL | c.105C>G (p.Thr35=) n.311C>G | |
| 8 | g.24956411G= | CA1771621413 | NEFL | c.105C= (p.Thr35=) n.311C= | |
| 8 | g.24956411G>T | CA460020803 | NEFL | c.105C>A (p.Thr35=) n.311C>A | |
| 8 | g.24956412G>A | CA370624015 | NEFL | c.104C>T (p.Thr35Ile) n.310C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.24956412G>C | CA370624018 | NEFL | c.104C>G (p.Thr35Ser) n.310C>G | |
| 8 | g.24956412G= | CA1771621420 | NEFL | c.104C= (p.Thr35=) n.310C= | |
| 8 | g.24956412G>T | CA370624016 | NEFL | c.104C>A (p.Thr35Asn) n.310C>A | |
| 8 | g.24956413T>A | CA370624019 | NEFL | c.103A>T (p.Thr35Ser) n.309A>T | |
| 8 | g.24956413T>C | CA370624020 | NEFL | c.103A>G (p.Thr35Ala) n.309A>G | |
| 8 | g.24956413T>G | CA370624022 | NEFL | c.103A>C (p.Thr35Pro) n.309A>C | |
| 8 | g.24956414G>A | CA460020804 | NEFL | c.102C>T (p.Ser34=) n.308C>T | |
| 8 | g.24956414G>C | CA370624024 | NEFL | c.102C>G (p.Ser34Arg) n.308C>G | |
| 8 | g.24956414G>T | CA370624025 | NEFL | c.102C>A (p.Ser34Arg) n.308C>A | |
| 8 | g.24956415C>A | CA370624027 | NEFL | c.101G>T (p.Ser34Ile) n.307G>T | |
| 8 | g.24956415C>G | CA370624028 | NEFL | c.101G>C (p.Ser34Thr) n.307G>C | |
| 8 | g.24956415C>T | CA370624030 | NEFL | c.101G>A (p.Ser34Asn) n.307G>A | gnomAD v4 |
| 8 | g.24956416T>A | CA370624032 | NEFL | c.100A>T (p.Ser34Cys) n.306A>T | gnomAD v2 gnomAD v4 |
| 8 | g.24956416T>C | CA370624033 | NEFL | c.100A>G (p.Ser34Gly) n.306A>G | gnomAD v4 |
| 8 | g.24956416T>G | CA370624035 | NEFL | c.100A>C (p.Ser34Arg) n.306A>C | |
| 8 | g.24956417G>A | CA460020805 | NEFL | c.99C>T (p.Tyr33=) n.305C>T | |
| 8 | g.24956417G>C | CA370624036 | NEFL | c.99C>G (p.Tyr33Ter) n.305C>G | |
| 8 | g.24956417G= | CA1771621429 | NEFL | c.99C= (p.Tyr33=) n.305C= | |
| 8 | g.24956417G>T | CA370624037 | NEFL | c.99C>A (p.Tyr33Ter) n.305C>A | dbSNP gnomAD v4 |
| 8 | g.24956418T>A | CA370624042 | NEFL | c.98A>T (p.Tyr33Phe) n.304A>T | |
| 8 | g.24956418T>C | CA370624039 | NEFL | c.98A>G (p.Tyr33Cys) n.304A>G | |
| 8 | g.24956418T>G | CA370624041 | NEFL | c.98A>C (p.Tyr33Ser) n.304A>C | |
| 8 | g.24956419A= | CA1771621433 | NEFL | c.97T= (p.Tyr33=) n.303T= | |
| 8 | g.24956419A>C | CA370624044 | NEFL | c.97T>G (p.Tyr33Asp) n.303T>G | |
| 8 | g.24956419A>G | CA4681550 | NEFL | c.97T>C (p.Tyr33His) n.303T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.24956419A>T | CA370624046 | NEFL | c.97T>A (p.Tyr33Asn) n.303T>A | |
| 8 | g.24956420G>A | CA460020806 | NEFL | c.96C>T (p.Gly32=) n.302C>T | |
| 8 | g.24956420G>C | CA460020807 | NEFL | c.96C>G (p.Gly32=) n.302C>G | |
| 8 | g.24956420G>T | CA460020808 | NEFL | c.96C>A (p.Gly32=) n.302C>A | |
| 8 | g.24956421C>A | CA370624047 | NEFL | c.95G>T (p.Gly32Val) n.301G>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956421C= | CA1771621439 | NEFL | c.95G= (p.Gly32=) n.301G= | |
| 8 | g.24956421C>G | CA370624049 | NEFL | c.95G>C (p.Gly32Ala) n.301G>C | |
| 8 | g.24956421C>T | CA370624051 | NEFL | c.95G>A (p.Gly32Asp) n.301G>A | |
| 8 | g.24956422C>A | CA370624053 | NEFL | c.94G>T (p.Gly32Cys) n.300G>T | |
| 8 | g.24956422C= | CA1771621442 | NEFL | c.94G= (p.Gly32=) n.300G= | |
| 8 | g.24956422C>G | CA370624054 | NEFL | c.94G>C (p.Gly32Arg) n.300G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.24956422C>T | CA370624055 | NEFL | c.94G>A (p.Gly32Ser) n.300G>A | gnomAD v4 |
| 8 | g.24956423G>A | CA460020809 | NEFL | c.93C>T (p.Ser31=) n.299C>T | dbSNP gnomAD v4 |
| 8 | g.24956423G>C | CA370624057 | NEFL | c.93C>G (p.Ser31Arg) n.299C>G | |
| 8 | g.24956423G= | CA1771621447 | NEFL | c.93C= (p.Ser31=) n.299C= | |
| 8 | g.24956423G>T | CA370624059 | NEFL | c.93C>A (p.Ser31Arg) n.299C>A | |
| 8 | g.24956424C>A | CA370624060 | NEFL | c.92G>T (p.Ser31Ile) n.298G>T | |
| 8 | g.24956424C>G | CA370624063 | NEFL | c.92G>C (p.Ser31Thr) n.298G>C | |
| 8 | g.24956424C>T | CA370624062 | NEFL | c.92G>A (p.Ser31Asn) n.298G>A | gnomAD v4 |
| 8 | g.24956425T>A | CA370624065 | NEFL | c.91A>T (p.Ser31Cys) n.297A>T | |
| 8 | g.24956425T>C | CA4681551 | NEFL | c.91A>G (p.Ser31Gly) n.297A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.24956425T>G | CA370624067 | NEFL | c.91A>C (p.Ser31Arg) n.297A>C | |
| 8 | g.24956425T= | CA1771621451 | NEFL | c.91A= (p.Ser31=) n.297A= | |
| 8 | g.24956426G>A | CA4681552 | NEFL | c.90C>T (p.Arg30=) n.296C>T | dbSNP ExAC |
| 8 | g.24956426G>C | CA460020810 | NEFL | c.90C>G (p.Arg30=) n.296C>G | |
| 8 | g.24956426G= | CA1771621476 | NEFL | c.90C= (p.Arg30=) n.296C= | |
| 8 | g.24956426G>T | CA460020811 | NEFL | c.90C>A (p.Arg30=) n.296C>A | |
| 8 | g.24956427C>A | CA370624069 | NEFL | c.89G>T (p.Arg30Leu) n.295G>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956427C= | CA1771621483 | NEFL | c.89G= (p.Arg30=) n.295G= | |
| 8 | g.24956427C>G | CA370624070 | NEFL | c.89G>C (p.Arg30Pro) n.295G>C | gnomAD v4 |
| 8 | g.24956427C>T | CA370624072 | NEFL | c.89G>A (p.Arg30His) n.295G>A | gnomAD v4 |
| 8 | g.24956428G>A | CA370624074 | NEFL | c.88C>T (p.Arg30Cys) n.294C>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956428G>C | CA370624075 | NEFL | c.88C>G (p.Arg30Gly) n.294C>G | gnomAD v4 |
| 8 | g.24956428G= | CA1771621488 | NEFL | c.88C= (p.Arg30=) n.294C= | |
| 8 | g.24956428G>T | CA4681553 | NEFL | c.88C>A (p.Arg30Ser) n.294C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.24956432_24956446del | CA2580078088 | NEFL | c.74_88del (p.His25_Val29del) n.280_294del | ClinVar gnomAD v4 |
| 8 | g.24956429C>A | CA460020812 | NEFL | c.87G>T (p.Val29=) n.293G>T | |
| 8 | g.24956429C>G | CA460020813 | NEFL | c.87G>C (p.Val29=) n.293G>C | |
| 8 | g.24956429C>T | CA460020814 | NEFL | c.87G>A (p.Val29=) n.293G>A | |
| 8 | g.24956430A= | CA1771621491 | NEFL | c.86T= (p.Val29=) n.292T= | |
| 8 | g.24956430A>C | CA370624079 | NEFL | c.86T>G (p.Val29Gly) n.292T>G | |
| 8 | g.24956430A>G | CA4681554 | NEFL | c.86T>C (p.Val29Ala) n.292T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.24956430A>T | CA370624077 | NEFL | c.86T>A (p.Val29Glu) n.292T>A | gnomAD v4 |
| 8 | g.24956431C>A | CA174061912 | NEFL | c.85G>T (p.Val29Leu) n.291G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.24956431C= | CA1771621498 | NEFL | c.85G= (p.Val29=) n.291G= | |
| 8 | g.24956431C>G | CA370624081 | NEFL | c.85G>C (p.Val29Leu) n.291G>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.24956431C>T | CA370624083 | NEFL | c.85G>A (p.Val29Met) n.291G>A | |
| 8 | g.24956432G>A | CA460020815 | NEFL | c.84C>T (p.Ser28=) n.290C>T | ClinVar gnomAD v4 |
| 8 | g.24956432G>C | CA370624084 | NEFL | c.84C>G (p.Ser28Arg) n.290C>G | |
| 8 | g.24956432G>T | CA370624086 | NEFL | c.84C>A (p.Ser28Arg) n.290C>A | |
| 8 | g.24956433C>A | CA370624088 | NEFL | c.83G>T (p.Ser28Ile) n.289G>T | |
| 8 | g.24956433C>G | CA370624089 | NEFL | c.83G>C (p.Ser28Thr) n.289G>C | |
| 8 | g.24956433C>T | CA370624090 | NEFL | c.83G>A (p.Ser28Asn) n.289G>A | |
| 8 | g.24956434T>A | CA370624091 | NEFL | c.82A>T (p.Ser28Cys) n.288A>T | |
| 8 | g.24956434T>C | CA370624093 | NEFL | c.82A>G (p.Ser28Gly) n.288A>G | |
| 8 | g.24956434T>G | CA370624094 | NEFL | c.82A>C (p.Ser28Arg) n.288A>C | |
| 8 | g.24956435G>A | CA4681555 | NEFL | c.81C>T (p.Ser27=) n.287C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.24956435G>C | CA460020817 | NEFL | c.81C>G (p.Ser27=) n.287C>G | |
| 8 | g.24956435G= | CA1771621513 | NEFL | c.81C= (p.Ser27=) n.287C= | |
| 8 | g.24956435G>T | CA460020816 | NEFL | c.81C>A (p.Ser27=) n.287C>A | |
| 8 | g.24956435_24956438delinsAGAA | CA16612573 | NEFL | c.78_81delinsTTCT (p.Ile26=) n.284_287delinsTTCT | ClinVar dbSNP |
| 8 | g.24956435_24956438delinsGGAG | CA1771621517 | NEFL | c.78_81delinsCTCC (p.Ile26=) n.284_287delinsCTCC | |
| 8 | g.24956436G>A | CA370624098 | NEFL | c.80C>T (p.Ser27Phe) n.286C>T | gnomAD v4 |
| 8 | g.24956436G>C | CA370624099 | NEFL | c.80C>G (p.Ser27Cys) n.286C>G | |
| 8 | g.24956436G>T | CA370624096 | NEFL | c.80C>A (p.Ser27Tyr) n.286C>A | gnomAD v4 |
| 8 | g.24956437A>C | CA370624104 | NEFL | c.79T>G (p.Ser27Ala) n.285T>G | |
| 8 | g.24956437A>G | CA370624101 | NEFL | c.79T>C (p.Ser27Pro) n.285T>C | ClinVar dbSNP |
| 8 | g.24956437A>T | CA370624103 | NEFL | c.79T>A (p.Ser27Thr) n.285T>A | |
| 8 | g.24956438G>A | CA4681556 | NEFL | c.78C>T (p.Ile26=) n.284C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.24956438G>C | CA370624105 | NEFL | c.78C>G (p.Ile26Met) n.284C>G | gnomAD v4 |
| 8 | g.24956438G= | CA1771621523 | NEFL | c.78C= (p.Ile26=) n.284C= | |
| 8 | g.24956438G>T | CA460020822 | NEFL | c.78C>A (p.Ile26=) n.284C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956439A>C | CA370624106 | NEFL | c.77T>G (p.Ile26Ser) n.283T>G | |
| 8 | g.24956439A>G | CA370624108 | NEFL | c.77T>C (p.Ile26Thr) n.283T>C | gnomAD v4 |
| 8 | g.24956439A>T | CA370624110 | NEFL | c.77T>A (p.Ile26Asn) n.283T>A | gnomAD v4 |
| 8 | g.24956440T>A | CA370624112 | NEFL | c.76A>T (p.Ile26Phe) n.282A>T | gnomAD v4 |
| 8 | g.24956440T>C | CA370624113 | NEFL | c.76A>G (p.Ile26Val) n.282A>G | |
| 8 | g.24956440T>G | CA370624115 | NEFL | c.76A>C (p.Ile26Leu) n.282A>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.24956440T= | CA1771621527 | NEFL | c.76A= (p.Ile26=) n.282A= | |
| 8 | g.24956441G>A | CA174061938 | NEFL | c.75C>T (p.His25=) n.281C>T | dbSNP |
| 8 | g.24956441G>C | CA370624117 | NEFL | c.75C>G (p.His25Gln) n.281C>G | |
| 8 | g.24956441G= | CA1771621531 | NEFL | c.75C= (p.His25=) n.281C= | |
| 8 | g.24956441G>T | CA370624119 | NEFL | c.75C>A (p.His25Gln) n.281C>A | |
| 8 | g.24956442T>A | CA370624123 | NEFL | c.74A>T (p.His25Leu) n.280A>T | |
| 8 | g.24956442T>C | CA370624120 | NEFL | c.74A>G (p.His25Arg) n.280A>G | |
| 8 | g.24956442T>G | CA370624122 | NEFL | c.74A>C (p.His25Pro) n.280A>C | |
| 8 | g.24956443G>A | CA370624125 | NEFL | c.73C>T (p.His25Tyr) n.279C>T | gnomAD v4 |
| 8 | g.24956443G>C | CA174061945 | NEFL | c.73C>G (p.His25Asp) n.279C>G | dbSNP |
| 8 | g.24956443G= | CA1771621538 | NEFL | c.73C= (p.His25=) n.279C= | |
| 8 | g.24956443G>T | CA370624126 | NEFL | c.73C>A (p.His25Asn) n.279C>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.24956444C>A | CA460020823 | NEFL | c.72G>T (p.Val24=) n.278G>T | |
| 8 | g.24956444C= | CA1771621546 | NEFL | c.72G= (p.Val24=) n.278G= | |
| 8 | g.24956444C>G | CA460020824 | NEFL | c.72G>C (p.Val24=) n.278G>C | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956444C>T | CA174061954 | NEFL | c.72G>A (p.Val24=) n.278G>A | dbSNP gnomAD v4 |
| 8 | g.24956445A>C | CA370624127 | NEFL | c.71T>G (p.Val24Gly) n.277T>G | |
| 8 | g.24956445A>G | CA370624128 | NEFL | c.71T>C (p.Val24Ala) n.277T>C | gnomAD v4 |
| 8 | g.24956445A>T | CA370624130 | NEFL | c.71T>A (p.Val24Glu) n.277T>A | |
| 8 | g.24956446C>A | CA370624132 | NEFL | c.70G>T (p.Val24Leu) n.276G>T | |
| 8 | g.24956446C>G | CA370624133 | NEFL | c.70G>C (p.Val24Leu) n.276G>C | |
| 8 | g.24956446C>T | CA370624134 | NEFL | c.70G>A (p.Val24Met) n.276G>A | gnomAD v4 |
| 8 | g.24956447C>A | CA460020825 | NEFL | c.69G>T (p.Arg23=) n.275G>T | |
| 8 | g.24956447C= | CA1771621548 | NEFL | c.69G= (p.Arg23=) n.275G= | |
| 8 | g.24956447C>G | CA460020826 | NEFL | c.69G>C (p.Arg23=) n.275G>C | |
| 8 | g.24956447C>T | CA460020827 | NEFL | c.69G>A (p.Arg23=) n.275G>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956448C>A | CA370624136 | NEFL | c.68G>T (p.Arg23Leu) n.274G>T | gnomAD v4 |
| 8 | g.24956448C= | CA1771621556 | NEFL | c.68G= (p.Arg23=) n.274G= | |
| 8 | g.24956448C>G | CA4681557 | NEFL | c.68G>C (p.Arg23Pro) n.274G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.24956448C>T | CA370624138 | NEFL | c.68G>A (p.Arg23Gln) n.274G>A | dbSNP |
| 8 | g.24956449G>A | CA4681558 | NEFL | c.67C>T (p.Arg23Trp) n.273C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.24956449G>C | CA370624140 | NEFL | c.67C>G (p.Arg23Gly) n.273C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956449G= | CA1771621565 | NEFL | c.67C= (p.Arg23=) n.273C= | |
| 8 | g.24956449G>T | CA460020828 | NEFL | c.67C>A (p.Arg23=) n.273C>A | gnomAD v4 |
| 8 | g.24956450G>A | CA460020831 | NEFL | c.66C>T (p.Pro22=) n.272C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956450G>C | CA460020829 | NEFL | c.66C>G (p.Pro22=) n.272C>G | |
| 8 | g.24956450G= | CA1771621574 | NEFL | c.66C= (p.Pro22=) n.272C= | |
| 8 | g.24956450G>T | CA460020830 | NEFL | c.66C>A (p.Pro22=) n.272C>A | |
| 8 | g.24956451G>A | CA370624142 | NEFL | c.65C>T (p.Pro22Leu) n.271C>T | ClinVar dbSNP |
| 8 | g.24956451G>C | CA217570 | NEFL | c.65C>G (p.Pro22Arg) n.271C>G | ClinVar dbSNP |
| 8 | g.24956451G= | CA1771621584 | NEFL | c.65C= (p.Pro22=) n.271C= | |
| 8 | g.24956451G>T | CA349198 | NEFL | c.65C>A (p.Pro22His) n.271C>A | ClinVar dbSNP |
| 8 | g.24956452G>A | CA217568 | NEFL | c.64C>T (p.Pro22Ser) n.270C>T | ClinVar dbSNP |
| 8 | g.24956452G>C | CA370624145 | NEFL | c.64C>G (p.Pro22Ala) n.270C>G | ClinVar dbSNP |
| 8 | g.24956452G= | CA1771621616 | NEFL | c.64C= (p.Pro22=) n.270C= | |
| 8 | g.24956452G>T | CA217565 | NEFL | c.64C>A (p.Pro22Thr) n.270C>A | ClinVar dbSNP |
| 8 | g.24956452_24956454delinsAAA | CA2573142647 | NEFL | c.62_64delinsTTT (p.Thr21_Pro22delinsIleSer) n.268_270delinsTTT | ClinVar dbSNP |
| 8 | g.24956453C>A | CA460020832 | NEFL | c.63G>T (p.Thr21=) n.269G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956453C= | CA1771621625 | NEFL | c.63G= (p.Thr21=) n.269G= | |
| 8 | g.24956453C>G | CA460020833 | NEFL | c.63G>C (p.Thr21=) n.269G>C | |
| 8 | g.24956453C>T | CA460020834 | NEFL | c.63G>A (p.Thr21=) n.269G>A | gnomAD v4 |
| 8 | g.24956454G>A | CA370624148 | NEFL | c.62C>T (p.Thr21Met) n.268C>T | gnomAD v4 |
| 8 | g.24956454G>C | CA370624149 | NEFL | c.62C>G (p.Thr21Arg) n.268C>G | |
| 8 | g.24956454G>T | CA370624150 | NEFL | c.62C>A (p.Thr21Lys) n.268C>A | gnomAD v4 |
| 8 | g.24956455T>A | CA370624152 | NEFL | c.61A>T (p.Thr21Ser) n.267A>T | |
| 8 | g.24956455T>C | CA370624154 | NEFL | c.61A>G (p.Thr21Ala) n.267A>G | |
| 8 | g.24956455T>G | CA370624155 | NEFL | c.61A>C (p.Thr21Pro) n.267A>C | |
| 8 | g.24956455T= | CA1771621630 | NEFL | c.61A= (p.Thr21=) n.267A= | |
| 8 | g.24956456C>A | CA370624160 | NEFL | c.60G>T (p.Glu20Asp) n.266G>T | gnomAD v4 |
| 8 | g.24956456C>G | CA370624158 | NEFL | c.60G>C (p.Glu20Asp) n.266G>C | dbSNP |
| 8 | g.24956456C>T | CA460020835 | NEFL | c.60G>A (p.Glu20=) n.266G>A | gnomAD v4 |
| 8 | g.24956457_24956469dup | CA217561 | NEFL | c.48_60dup (p.Thr21AlafsTer?) n.254_266dup | ClinVar dbSNP |
| 8 | g.24956457T>A | CA370624163 | NEFL | c.59A>T (p.Glu20Val) n.265A>T | |
| 8 | g.24956457T>C | CA370624165 | NEFL | c.59A>G (p.Glu20Gly) n.265A>G | |
| 8 | g.24956457T>G | CA370624166 | NEFL | c.59A>C (p.Glu20Ala) n.265A>C | dbSNP |
| 8 | g.24956457T= | CA1771621640 | NEFL | c.59A= (p.Glu20=) n.265A= | |
| 8 | g.24956458C>A | CA370624168 | NEFL | c.58G>T (p.Glu20Ter) n.264G>T | |
| 8 | g.24956458C= | CA1771621648 | NEFL | c.58G= (p.Glu20=) n.264G= | |
| 8 | g.24956458C>G | CA4681559 | NEFL | c.58G>C (p.Glu20Gln) n.264G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.24956458C>T | CA370624170 | NEFL | c.58G>A (p.Glu20Lys) n.264G>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.24956459C>A | CA460020836 | NEFL | c.57G>T (p.Val19=) n.263G>T | |
| 8 | g.24956459C>G | CA460020837 | NEFL | c.57G>C (p.Val19=) n.263G>C | |
| 8 | g.24956459C>T | CA460020838 | NEFL | c.57G>A (p.Val19=) n.263G>A | |
| 8 | g.24956460A= | CA1771621653 | NEFL | c.56T= (p.Val19=) n.262T= | |
| 8 | g.24956460A>C | CA370624172 | NEFL | c.56T>G (p.Val19Gly) n.262T>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956460A>G | CA370624173 | NEFL | c.56T>C (p.Val19Ala) n.262T>C | |
| 8 | g.24956460A>T | CA370624175 | NEFL | c.56T>A (p.Val19Glu) n.262T>A | gnomAD v4 |
| 8 | g.24956461C>A | CA370624176 | NEFL | c.55G>T (p.Val19Leu) n.261G>T | |
| 8 | g.24956461C= | CA1771621659 | NEFL | c.55G= (p.Val19=) n.261G= | |
| 8 | g.24956461C>G | CA370624178 | NEFL | c.55G>C (p.Val19Leu) n.261G>C | dbSNP gnomAD v4 |
| 8 | g.24956461C>T | CA370624179 | NEFL | c.55G>A (p.Val19Met) n.261G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956462del | CA2716802008 | NEFL | c.54del (p.Tyr18Ter) n.260del | dbSNP |
| 8 | g.24956462G>A | CA460020840 | NEFL | c.54C>T (p.Tyr18=) n.260C>T | ClinVar dbSNP gnomAD v4 |
| 8 | g.24956462G>C | CA370624182 | NEFL | c.54C>G (p.Tyr18Ter) n.260C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.24956462G= | CA1771621662 | NEFL | c.54C= (p.Tyr18=) n.260C= | |
| 8 | g.24956462G>T | CA370624181 | NEFL | c.54C>A (p.Tyr18Ter) n.260C>A | ClinVar dbSNP |
| 8 | g.24956463T>A | CA370624184 | NEFL | c.53A>T (p.Tyr18Phe) n.259A>T | dbSNP |
| 8 | g.24956463T>C | CA370624186 | NEFL | c.53A>G (p.Tyr18Cys) n.259A>G | |
| 8 | g.24956463T>G | CA4681560 | NEFL | c.53A>C (p.Tyr18Ser) n.259A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.24956463T= | CA1771621665 | NEFL | c.53A= (p.Tyr18=) n.259A= |