Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.24953646G>A | CA233076 | NEFL | c.1319C>T (p.Pro440Leu) c.*184C>T (n.*184C>T) | ClinVar dbSNP gnomAD v4 |
8 | g.24953646G>C | CA370620192 | NEFL | c.1319C>G (p.Pro440Arg) c.*184C>G (n.*184C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.24953646G= | CA1771653423 | NEFL | c.1319C= (p.Pro440=) c.*184C= (n.*184C=) | |
8 | g.24953646G>T | CA370620193 | NEFL | c.1319C>A (p.Pro440Gln) c.*184C>A (n.*184C>A) | |
8 | g.24953647G>A | CA174058668 | NEFL | c.1318C>T (p.Pro440Ser) c.*183C>T (n.*183C>T) | dbSNP |
8 | g.24953647G>C | CA370620194 | NEFL | c.1318C>G (p.Pro440Ala) c.*183C>G (n.*183C>G) | |
8 | g.24953647G= | CA1771653440 | NEFL | c.1318C= (p.Pro440=) c.*183C= (n.*183C=) | |
8 | g.24953647G>T | CA370620195 | NEFL | c.1318C>A (p.Pro440Thr) c.*183C>A (n.*183C>A) | |
8 | g.24953648_24953765del | CA2573142642 | NEFL | c.1201_1318del (p.Ser401ArgfsTer?) c.*66_*183del (n.*66_*183del) | ClinVar dbSNP |
8 | g.24953648G>A | CA460183175 | NEFL | c.1317C>T (p.Phe439=) c.*182C>T (n.*182C>T) | |
8 | g.24953648G>C | CA370620196 | NEFL | c.1317C>G (p.Phe439Leu) c.*182C>G (n.*182C>G) | |
8 | g.24953648G>T | CA370620197 | NEFL | c.1317C>A (p.Phe439Leu) c.*182C>A (n.*182C>A) | ClinVar gnomAD v4 |
8 | g.24953649A= | CA1771653457 | NEFL | c.1316T= (p.Phe439=) c.*181T= (n.*181T=) | |
8 | g.24953649A>C | CA370620199 | NEFL | c.1316T>G (p.Phe439Cys) c.*181T>G (n.*181T>G) | |
8 | g.24953649A>G | CA4681294 | NEFL | c.1316T>C (p.Phe439Ser) c.*181T>C (n.*181T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.24953649A>T | CA370620198 | NEFL | c.1316T>A (p.Phe439Tyr) c.*181T>A (n.*181T>A) | |
8 | g.24953650A= | CA1771653463 | NEFL | c.1315T= (p.Phe439=) c.*180T= (n.*180T=) | |
8 | g.24953650A>C | CA370620200 | NEFL | c.1315T>G (p.Phe439Val) c.*180T>G (n.*180T>G) | |
8 | g.24953650A>G | CA370620201 | NEFL | c.1315T>C (p.Phe439Leu) c.*180T>C (n.*180T>C) | ClinVar dbSNP gnomAD v4 |
8 | g.24953650A>T | CA4681295 | NEFL | c.1315T>A (p.Phe439Ile) c.*180T>A (n.*180T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.24953651G>A | CA460183176 | NEFL | c.1314C>T (p.Ser438=) c.*179C>T (n.*179C>T) | |
8 | g.24953651G>C | CA460183177 | NEFL | c.1314C>G (p.Ser438=) c.*179C>G (n.*179C>G) | |
8 | g.24953651G>T | CA460183178 | NEFL | c.1314C>A (p.Ser438=) c.*179C>A (n.*179C>A) | |
8 | g.24953652G>A | CA370620202 | NEFL | c.1313C>T (p.Ser438Phe) c.*178C>T (n.*178C>T) | dbSNP |
8 | g.24953652G>C | CA370620203 | NEFL | c.1313C>G (p.Ser438Cys) c.*178C>G (n.*178C>G) | |
8 | g.24953652G= | CA1771653466 | NEFL | c.1313C= (p.Ser438=) c.*178C= (n.*178C=) | |
8 | g.24953652G>T | CA370620204 | NEFL | c.1313C>A (p.Ser438Tyr) c.*178C>A (n.*178C>A) | |
8 | g.24953653A>C | CA370620207 | NEFL | c.1312T>G (p.Ser438Ala) c.*177T>G (n.*177T>G) | |
8 | g.24953653A>G | CA370620205 | NEFL | c.1312T>C (p.Ser438Pro) c.*177T>C (n.*177T>C) | |
8 | g.24953653A>T | CA370620206 | NEFL | c.1312T>A (p.Ser438Thr) c.*177T>A (n.*177T>A) | |
8 | g.24953654G>A | CA460183179 | NEFL | c.1311C>T (p.Arg437=) c.*176C>T (n.*176C>T) | |
8 | g.24953654G>C | CA460183180 | NEFL | c.1311C>G (p.Arg437=) c.*176C>G (n.*176C>G) | |
8 | g.24953654G>T | CA460183181 | NEFL | c.1311C>A (p.Arg437=) c.*176C>A (n.*176C>A) | |
8 | g.24953655C>A | CA370620208 | NEFL | c.1310G>T (p.Arg437Leu) c.*175G>T (n.*175G>T) | |
8 | g.24953655C= | CA1771653469 | NEFL | c.1310G= (p.Arg437=) c.*175G= (n.*175G=) | |
8 | g.24953655C>G | CA4681297 | NEFL | c.1310G>C (p.Arg437Pro) c.*175G>C (n.*175G>C) | dbSNP ExAC |
8 | g.24953655C>T | CA4681296 | NEFL | c.1310G>A (p.Arg437His) c.*175G>A (n.*175G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.24953656G>A | CA370620209 | NEFL | c.1309C>T (p.Arg437Cys) c.*174C>T (n.*174C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.24953656G>C | CA370620210 | NEFL | c.1309C>G (p.Arg437Gly) c.*174C>G (n.*174C>G) | ClinVar |
8 | g.24953656G= | CA1771653478 | NEFL | c.1309C= (p.Arg437=) c.*174C= (n.*174C=) | |
8 | g.24953656G>T | CA370620211 | NEFL | c.1309C>A (p.Arg437Ser) c.*174C>A (n.*174C>A) | gnomAD v4 |
8 | g.24953657G>A | CA460183182 | NEFL | c.1308C>T (p.Thr436=) c.*173C>T (n.*173C>T) | gnomAD v4 |
8 | g.24953657G>C | CA460183183 | NEFL | c.1308C>G (p.Thr436=) c.*173C>G (n.*173C>G) | |
8 | g.24953657G>T | CA460183184 | NEFL | c.1308C>A (p.Thr436=) c.*173C>A (n.*173C>A) | |
8 | g.24953658G>A | CA370620212 | NEFL | c.1307C>T (p.Thr436Ile) c.*172C>T (n.*172C>T) | gnomAD v4 |
8 | g.24953658G>C | CA370620213 | NEFL | c.1307C>G (p.Thr436Ser) c.*172C>G (n.*172C>G) | |
8 | g.24953658G>T | CA370620214 | NEFL | c.1307C>A (p.Thr436Asn) c.*172C>A (n.*172C>A) | |
8 | g.24953659T>A | CA370620215 | NEFL | c.1306A>T (p.Thr436Ser) c.*171A>T (n.*171A>T) | |
8 | g.24953659T>C | CA370620216 | NEFL | c.1306A>G (p.Thr436Ala) c.*171A>G (n.*171A>G) | gnomAD v4 |
8 | g.24953659T>G | CA4681298 | NEFL | c.1306A>C (p.Thr436Pro) c.*171A>C (n.*171A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |