|
NC_000008.11:g.24956698G>C
|
|
|
NC_000008.11:g.24956763G>C
|
|
|
NC_000008.11:g.24956773G>C
|
|
|
NM_006158.4(NEFL):c.*101A>G
|
rs34505194 |
|
NM_006158.4(NEFL):c.*1342A>G
|
rs886062830 |
|
NM_006158.4(NEFL):c.*1344G>A
|
rs79034217 |
|
NM_006158.4(NEFL):c.*1349T>G
|
rs886062828 |
|
NM_006158.4(NEFL):c.*1482C>T
|
rs886062827 |
|
NM_006158.4(NEFL):c.*171C>G
|
rs886062834 |
|
NM_006158.4(NEFL):c.*1744T>C
|
rs886062825 |
|
NM_006158.4(NEFL):c.*1806T>C
|
rs192937928 |
|
NM_006158.4(NEFL):c.*244A>G
|
rs78869168 |
|
NM_006158.4(NEFL):c.*486T>G
|
rs562682645 |
|
NM_006158.4(NEFL):c.*51A>G
|
rs538082598 |
|
NM_006158.4(NEFL):c.*577T>C
|
rs886062832 |
|
NM_006158.4(NEFL):c.*82T>A
|
rs148654058 |
|
NM_006158.4(NEFL):c.*856T>C
|
rs886062831 |
|
NM_006158.4(NEFL):c.*878A>G
|
rs189452316 |
|
NM_006158.4(NEFL):c.-176C>A
|
rs2979688 |
|
NM_006158.4(NEFL):c.-68T>A
|
rs886062836 |
|
NM_006158.4(NEFL):c.1212C>T (p.Ser404=)
|
rs60547413 |
|
NM_006158.4(NEFL):c.1329C>T (p.Tyr443=)
|
rs140532785 |
|
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn)
|
rs57153321 |
|
NM_006158.4(NEFL):c.141G>A (p.Val47=)
|
rs886062835 |
|
NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg)
|
rs377121179 |
|
NM_006158.4(NEFL):c.227T>C (p.Val76Ala)
|
rs58907919 |
|
NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg)
|
rs60261494 |
|
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919 |
|
NM_006158.4(NEFL):c.418G>T (p.Glu140Ter)
|
rs121913663 |
|
NM_006158.4(NEFL):c.446C>T (p.Ala149Val)
|
rs59101996 |
|
NM_006158.4(NEFL):c.45G>A (p.Lys15=)
|
rs62636518 |
|
NM_006158.4(NEFL):c.628G>T (p.Glu210Ter)
|
rs199422214 |
|
NM_006158.4(NEFL):c.639C>G (p.Ile213Met)
|
rs62636522 |
|
NM_006158.4(NEFL):c.64C>A (p.Pro22Thr)
|
rs28928910 |
|
NM_006158.4(NEFL):c.65C>G (p.Pro22Arg)
|
rs267607538 |
|
NM_006158.4(NEFL):c.837G>A (p.Trp279Ter)
|
rs1586128169 |
|
NM_006158.4(NEFL):c.986T>C (p.Leu329Pro)
|
rs876661290 |
|
NM_006158.5(NEFL):c.*1101G>A
|
|
|
NM_006158.5(NEFL):c.*1153T>G
|
|
|
NM_006158.5(NEFL):c.*1293A>G
|
|
|
NM_006158.5(NEFL):c.*1383C>T
|
|
|
NM_006158.5(NEFL):c.*1464A>G
|
|
|
NM_006158.5(NEFL):c.*436T>G
|
|
|
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)
|
|
|
NM_006158.5(NEFL):c.1407G>A (p.Glu469=)
|
rs543609297 |
|
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser)
|
|
|
NM_006158.5(NEFL):c.1573_1575GAG[2] (p.Glu527del)
|
rs3832558 |
|
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)
|
|
|
NM_006158.5(NEFL):c.339G>C (p.Gln113His)
|
|
|
NM_006158.5(NEFL):c.516C>T (p.Arg172=)
|
|
|
NM_006158.5(NEFL):c.540G>C (p.Glu180Asp)
|
|
|
NM_006158.5(NEFL):c.558G>A (p.Glu186=)
|
|
|
NM_006158.5(NEFL):c.564C>G (p.Ala188=)
|
|
|
NM_006158.5(NEFL):c.717G>A (p.Gln239=)
|
|