NM_006158.4(NEFL):c.1006C>G (p.Leu336Val)
|
rs551896980 |
NM_006158.4(NEFL):c.1007T>C (p.Leu336Pro)
|
rs587777881 |
NM_006158.4(NEFL):c.1179G>C (p.Leu393Phe)
|
rs879253927 |
NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys)
|
rs62636503 |
NM_006158.4(NEFL):c.1212C>T (p.Ser404=)
|
rs60547413 |
NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter)
|
rs191346286 |
NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu)
|
rs587777882 |
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn)
|
rs57153321 |
NM_006158.4(NEFL):c.1462G>A (p.Glu488Lys)
|
rs773570365 |
NM_006158.4(NEFL):c.19G>A (p.Glu7Lys)
|
rs57848467 |
NM_006158.4(NEFL):c.227T>C (p.Val76Ala)
|
rs58907919 |
NM_006158.4(NEFL):c.22C>A (p.Pro8Thr)
|
rs886043551 |
NM_006158.4(NEFL):c.23C>A (p.Pro8Gln)
|
rs61491953 |
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg)
|
rs61491953 |
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919 |
NM_006158.4(NEFL):c.321C>G (p.Arg107=)
|
rs1198042093 |
NM_006158.4(NEFL):c.338_339delinsCC (p.Gln113Pro)
|
rs1554497641 |
NM_006158.4(NEFL):c.423G>A (p.Gln141=)
|
rs59161567 |
NM_006158.4(NEFL):c.48_60dup (p.Thr21fs)
|
rs58640772 |
NM_006158.4(NEFL):c.509C>G (p.Thr170Ser)
|
rs541360328 |
NM_006158.4(NEFL):c.582A>C (p.Glu194Asp)
|
rs532240912 |
NM_006158.4(NEFL):c.637A>G (p.Ile213Val)
|
rs538481538 |
NM_006158.4(NEFL):c.639C>G (p.Ile213Met)
|
rs62636522 |
NM_006158.4(NEFL):c.667C>T (p.Leu223=)
|
rs60156239 |
NM_006158.4(NEFL):c.743A>C (p.Asp248Ala)
|
rs927119938 |
NM_006158.4(NEFL):c.794A>G (p.Tyr265Cys)
|
rs587777880 |
NM_006158.4(NEFL):c.855C>T (p.Thr285=)
|
rs1065083 |
NM_006158.5(NEFL):c.*2C>A
|
rs0 |
NM_006158.5(NEFL):c.1008_1010GGA[1] (p.Glu337del)
|
rs0 |
NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp)
|
rs368370291 |
NM_006158.5(NEFL):c.1039_1040del (p.Met347fs)
|
rs0 |
NM_006158.5(NEFL):c.1086G>A (p.Lys362=)
|
rs0 |
NM_006158.5(NEFL):c.1123C>T (p.Leu375Phe)
|
rs0 |
NM_006158.5(NEFL):c.1169+14G>A
|
rs0 |
NM_006158.5(NEFL):c.1169+3G>A
|
rs1209043497 |
NM_006158.5(NEFL):c.1193C>A (p.Thr398Asn)
|
rs0 |
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro)
|
rs0 |
NM_006158.5(NEFL):c.1236C>A (p.Tyr412Ter)
|
rs746267609 |
NM_006158.5(NEFL):c.1245C>G (p.Ser415Arg)
|
rs0 |
NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser)
|
rs0 |
NM_006158.5(NEFL):c.1330A>C (p.Thr444Pro)
|
rs201455550 |
NM_006158.5(NEFL):c.1407G>A (p.Glu469=)
|
rs543609297 |
NM_006158.5(NEFL):c.1413del (p.Ser472fs)
|
rs11300136 |
NM_006158.5(NEFL):c.1414del (p.Ser472fs)
|
rs780764641 |
NM_006158.5(NEFL):c.1611A>G (p.Gln537=)
|
rs0 |
NM_006158.5(NEFL):c.235A>G (p.Ile79Val)
|
rs0 |
NM_006158.5(NEFL):c.280C>T (p.Leu94Phe)
|
rs1586128912 |
NM_006158.5(NEFL):c.304G>T (p.Ala102Ser)
|
rs0 |
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)
|
rs0 |
NM_006158.5(NEFL):c.339G>C (p.Gln113His)
|
rs0 |
NM_006158.5(NEFL):c.420G>A (p.Glu140=)
|
rs1586128713 |
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr)
|
rs0 |
NM_006158.5(NEFL):c.507G>A (p.Glu169=)
|
rs0 |
NM_006158.5(NEFL):c.541G>T (p.Glu181Ter)
|
rs0 |
NM_006158.5(NEFL):c.612C>T (p.Leu204=)
|
rs0 |
NM_006158.5(NEFL):c.630G>A (p.Glu210=)
|
rs0 |
NM_006158.5(NEFL):c.678G>T (p.Val226=)
|
rs0 |
NM_006158.5(NEFL):c.86T>C (p.Val29Ala)
|
rs0 |
NM_006158.5(NEFL):c.967C>T (p.Arg323Trp)
|
rs0 |
NM_006158.5(NEFL):c.993_994insT (p.Gln332fs)
|
rs0 |
NM_006158.5(NEFL):c.999_1004delinsTGTCG (p.Gln334fs)
|
rs0 |