Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153870848G>A | CA519344210 | L1CAM | c.636C>T (p.His212=) c.621C>T (p.His207=) | |
X | g.153870848G>C | CA415135178 | L1CAM | c.636C>G (p.His212Gln) c.621C>G (p.His207Gln) | |
X | g.153870848G>T | CA415135180 | L1CAM | c.636C>A (p.His212Gln) c.621C>A (p.His207Gln) | |
X | g.153870849T>A | CA415135184 | L1CAM | c.635A>T (p.His212Leu) c.620A>T (p.His207Leu) | dbSNP |
X | g.153870849T>C | CA415135196 | L1CAM | c.635A>G (p.His212Arg) c.620A>G (p.His207Arg) | |
X | g.153870849T>G | CA415135200 | L1CAM | c.635A>C (p.His212Pro) c.620A>C (p.His207Pro) | |
X | g.153870849T= | CA2466507304 | L1CAM | c.635A= (p.His212=) c.620A= (p.His207=) | |
X | g.153870850G>A | CA415135203 | L1CAM | c.634C>T (p.His212Tyr) c.619C>T (p.His207Tyr) | |
X | g.153870850G>C | CA415135214 | L1CAM | c.634C>G (p.His212Asp) c.619C>G (p.His207Asp) | |
X | g.153870850G>T | CA415135216 | L1CAM | c.634C>A (p.His212Asn) c.619C>A (p.His207Asn) | |
X | g.153870852del | CA2579733053 | L1CAM | c.634del (p.His212ThrfsTer24) c.619del (p.His207ThrfsTer24) | |
X | g.153870851G>A | CA519344215 | L1CAM | c.633C>T (p.Ala211=) c.618C>T (p.Ala206=) | ClinVar gnomAD v4 |
X | g.153870851G>C | CA519344217 | L1CAM | c.633C>G (p.Ala211=) c.618C>G (p.Ala206=) | |
X | g.153870851G>T | CA519344218 | L1CAM | c.633C>A (p.Ala211=) c.618C>A (p.Ala206=) | COSMIC |
X | g.153870852G>A | CA415135221 | L1CAM | c.632C>T (p.Ala211Val) c.617C>T (p.Ala206Val) | |
X | g.153870852G>C | CA415135223 | L1CAM | c.632C>G (p.Ala211Gly) c.617C>G (p.Ala206Gly) | |
X | g.153870852G>T | CA415135218 | L1CAM | c.632C>A (p.Ala211Asp) c.617C>A (p.Ala206Asp) | |
X | g.153870853C>A | CA10554544 | L1CAM | c.631G>T (p.Ala211Ser) c.616G>T (p.Ala206Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
X | g.153870853C= | CA2466507305 | L1CAM | c.631G= (p.Ala211=) c.616G= (p.Ala206=) | |
X | g.153870853C>G | CA415135232 | L1CAM | c.631G>C (p.Ala211Pro) c.616G>C (p.Ala206Pro) | |
X | g.153870853C>T | CA337263738 | L1CAM | c.631G>A (p.Ala211Thr) c.616G>A (p.Ala206Thr) | ClinVar dbSNP gnomAD v4 |
X | g.153870854G>A | CA220733 | L1CAM | c.630C>T (p.His210=) c.615C>T (p.His205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870854G>C | CA337263752 | L1CAM | c.630C>G (p.His210Gln) c.615C>G (p.His205Gln) | dbSNP |
X | g.153870854G= | CA2466507306 | L1CAM | c.630C= (p.His210=) c.615C= (p.His205=) | |
X | g.153870854G>T | CA254955 | L1CAM | c.630C>A (p.His210Gln) c.615C>A (p.His205Gln) | ClinVar dbSNP |
X | g.153870855T>A | CA415135237 | L1CAM | c.629A>T (p.His210Leu) c.614A>T (p.His205Leu) | |
X | g.153870855T>C | CA415135238 | L1CAM | c.629A>G (p.His210Arg) c.614A>G (p.His205Arg) | |
X | g.153870855T>G | CA415135239 | L1CAM | c.629A>C (p.His210Pro) c.614A>C (p.His205Pro) | |
X | g.153870856G>A | CA415135240 | L1CAM | c.628C>T (p.His210Tyr) c.613C>T (p.His205Tyr) | |
X | g.153870856G>C | CA415135243 | L1CAM | c.628C>G (p.His210Asp) c.613C>G (p.His205Asp) | |
X | g.153870856G>T | CA415135245 | L1CAM | c.628C>A (p.His210Asn) c.613C>A (p.His205Asn) | |
X | g.153870857G>A | CA519344227 | L1CAM | c.627C>T (p.Cys209=) c.612C>T (p.Cys204=) | |
X | g.153870857G>C | CA415135258 | L1CAM | c.627C>G (p.Cys209Trp) c.612C>G (p.Cys204Trp) | |
X | g.153870857G>T | CA415135248 | L1CAM | c.627C>A (p.Cys209Ter) c.612C>A (p.Cys204Ter) | |
X | g.153870858C>A | CA415135261 | L1CAM | c.626G>T (p.Cys209Phe) c.611G>T (p.Cys204Phe) | |
X | g.153870858C>G | CA415135264 | L1CAM | c.626G>C (p.Cys209Ser) c.611G>C (p.Cys204Ser) | |
X | g.153870858C>T | CA415135271 | L1CAM | c.626G>A (p.Cys209Tyr) c.611G>A (p.Cys204Tyr) | |
X | g.153870859A>C | CA415135273 | L1CAM | c.625T>G (p.Cys209Gly) c.610T>G (p.Cys204Gly) | |
X | g.153870859A>G | CA415135278 | L1CAM | c.625T>C (p.Cys209Arg) c.610T>C (p.Cys204Arg) | |
X | g.153870859A>T | CA415135283 | L1CAM | c.625T>A (p.Cys209Ser) c.610T>A (p.Cys204Ser) | |
X | g.153870860G>A | CA519344232 | L1CAM | c.624C>T (p.Ile208=) c.609C>T (p.Ile203=) | |
X | g.153870860G>C | CA415135286 | L1CAM | c.624C>G (p.Ile208Met) c.609C>G (p.Ile203Met) | |
X | g.153870860G>T | CA519344233 | L1CAM | c.624C>A (p.Ile208=) c.609C>A (p.Ile203=) | |
X | g.153870861A>C | CA415135292 | L1CAM | c.623T>G (p.Ile208Ser) c.608T>G (p.Ile203Ser) | |
X | g.153870861A>G | CA415135294 | L1CAM | c.623T>C (p.Ile208Thr) c.608T>C (p.Ile203Thr) | |
X | g.153870861A>T | CA415135298 | L1CAM | c.623T>A (p.Ile208Asn) c.608T>A (p.Ile203Asn) | |
X | g.153870862T>A | CA415135301 | L1CAM | c.622A>T (p.Ile208Phe) c.607A>T (p.Ile203Phe) | |
X | g.153870862T>C | CA415135302 | L1CAM | c.622A>G (p.Ile208Val) c.607A>G (p.Ile203Val) | |
X | g.153870862T>G | CA415135306 | L1CAM | c.622A>C (p.Ile208Leu) c.607A>C (p.Ile203Leu) | |
X | g.153870863G>A | CA519344238 | L1CAM | c.621C>T (p.Tyr207=) c.606C>T (p.Tyr202=) | gnomAD v4 |