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 |
X | g.153870863G>C | CA415135318 | L1CAM | c.621C>G (p.Tyr207Ter) c.606C>G (p.Tyr202Ter) | |
X | g.153870863G>T | CA415135319 | L1CAM | c.621C>A (p.Tyr207Ter) c.606C>A (p.Tyr202Ter) | |
X | g.153870864T>A | CA415135323 | L1CAM | c.620A>T (p.Tyr207Phe) c.605A>T (p.Tyr202Phe) | |
X | g.153870864T>C | CA415135335 | L1CAM | c.620A>G (p.Tyr207Cys) c.605A>G (p.Tyr202Cys) | gnomAD v4 |
X | g.153870864T>G | CA415135332 | L1CAM | c.620A>C (p.Tyr207Ser) c.605A>C (p.Tyr202Ser) | |
X | g.153870865del | CA2579733054 | L1CAM | c.619del (p.Tyr207ThrfsTer29) c.604del (p.Tyr202ThrfsTer29) | |
X | g.153870865A>C | CA415135339 | L1CAM | c.619T>G (p.Tyr207Asp) c.604T>G (p.Tyr202Asp) | |
X | g.153870865A>G | CA415135340 | L1CAM | c.619T>C (p.Tyr207His) c.604T>C (p.Tyr202His) | |
X | g.153870865A>T | CA415135344 | L1CAM | c.619T>A (p.Tyr207Asn) c.604T>A (p.Tyr202Asn) | |
X | g.153870866G>A | CA519344242 | L1CAM | c.618C>T (p.Asp206=) c.603C>T (p.Asp201=) | |
X | g.153870866G>C | CA415135346 | L1CAM | c.618C>G (p.Asp206Glu) c.603C>G (p.Asp201Glu) | |
X | g.153870866G= | CA2466507307 | L1CAM | c.618C= (p.Asp206=) c.603C= (p.Asp201=) | |
X | g.153870866G>T | CA209390 | L1CAM | c.618C>A (p.Asp206Glu) c.603C>A (p.Asp201Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870867T>A | CA415135362 | L1CAM | c.617A>T (p.Asp206Val) c.602A>T (p.Asp201Val) | |
X | g.153870867T>C | CA415135359 | L1CAM | c.617A>G (p.Asp206Gly) c.602A>G (p.Asp201Gly) | |
X | g.153870867T>G | CA415135354 | L1CAM | c.617A>C (p.Asp206Ala) c.602A>C (p.Asp201Ala) | |
X | g.153870868del | CA2573159354 | L1CAM | c.616del (p.Asp206ThrfsTer30) c.601del (p.Asp201ThrfsTer30) | ClinVar dbSNP |
X | g.153870868C>A | CA415135364 | L1CAM | c.616G>T (p.Asp206Tyr) c.601G>T (p.Asp201Tyr) | |
X | g.153870868C>G | CA415135367 | L1CAM | c.616G>C (p.Asp206His) c.601G>C (p.Asp201His) | COSMIC |
X | g.153870868C>T | CA415135371 | L1CAM | c.616G>A (p.Asp206Asn) c.601G>A (p.Asp201Asn) | |
X | g.153870869T>A | CA519344247 | L1CAM | c.615A>T (p.Ser205=) c.600A>T (p.Ser200=) | |
X | g.153870869T>C | CA519344248 | L1CAM | c.615A>G (p.Ser205=) c.600A>G (p.Ser200=) | |
X | g.153870869T>G | CA519344249 | L1CAM | c.615A>C (p.Ser205=) c.600A>C (p.Ser200=) | |
X | g.153870869_153870870delinsCT | CA2695236885 | L1CAM | c.614_615delinsAG (p.Ser205Ter) c.599_600delinsAG (p.Ser200Ter) | |
X | g.153870870G>A | CA415135373 | L1CAM | c.614C>T (p.Ser205Leu) c.599C>T (p.Ser200Leu) | |
X | g.153870870G>C | CA415135380 | L1CAM | c.614C>G (p.Ser205Ter) c.599C>G (p.Ser200Ter) | COSMIC |
X | g.153870870G>T | CA415135383 | L1CAM | c.614C>A (p.Ser205Ter) c.599C>A (p.Ser200Ter) | |
X | g.153870871A>C | CA415135385 | L1CAM | c.613T>G (p.Ser205Ala) c.598T>G (p.Ser200Ala) | |
X | g.153870871A>G | CA415135389 | L1CAM | c.613T>C (p.Ser205Pro) c.598T>C (p.Ser200Pro) | |
X | g.153870871A>T | CA415135387 | L1CAM | c.613T>A (p.Ser205Thr) c.598T>A (p.Ser200Thr) | |
X | g.153870872G>A | CA519344251 | L1CAM | c.612C>T (p.His204=) c.597C>T (p.His199=) | |
X | g.153870872G>C | CA415135391 | L1CAM | c.612C>G (p.His204Gln) c.597C>G (p.His199Gln) | |
X | g.153870872G>T | CA415135392 | L1CAM | c.612C>A (p.His204Gln) c.597C>A (p.His199Gln) | |
X | g.153870873T>A | CA415135395 | L1CAM | c.611A>T (p.His204Leu) c.596A>T (p.His199Leu) | |
X | g.153870873T>C | CA415135397 | L1CAM | c.611A>G (p.His204Arg) c.596A>G (p.His199Arg) | |
X | g.153870873T>G | CA415135398 | L1CAM | c.611A>C (p.His204Pro) c.596A>C (p.His199Pro) | |
X | g.153870874G>A | CA415135400 | L1CAM | c.610C>T (p.His204Tyr) c.595C>T (p.His199Tyr) | |
X | g.153870874G>C | CA415135401 | L1CAM | c.610C>G (p.His204Asp) c.595C>G (p.His199Asp) | |
X | g.153870874G>T | CA415135402 | L1CAM | c.610C>A (p.His204Asn) c.595C>A (p.His199Asn) | |
X | g.153870875del | CA2579733055 | L1CAM | c.610del (p.His204ThrfsTer?) c.595del (p.His199ThrfsTer?) | |
X | g.153870875G>A | CA519344255 | L1CAM | c.609C>T (p.Asn203=) c.594C>T (p.Asn198=) | |
X | g.153870875G>C | CA415135404 | L1CAM | c.609C>G (p.Asn203Lys) c.594C>G (p.Asn198Lys) | |
X | g.153870875G>T | CA415135405 | L1CAM | c.609C>A (p.Asn203Lys) c.594C>A (p.Asn198Lys) | |
X | g.153870876T>A | CA415135411 | L1CAM | c.608A>T (p.Asn203Ile) c.593A>T (p.Asn198Ile) | |
X | g.153870876T>C | CA415135407 | L1CAM | c.608A>G (p.Asn203Ser) c.593A>G (p.Asn198Ser) | |
X | g.153870876T>G | CA415135409 | L1CAM | c.608A>C (p.Asn203Thr) c.593A>C (p.Asn198Thr) | |
X | g.153870877T>A | CA415135414 | L1CAM | c.607A>T (p.Asn203Tyr) c.592A>T (p.Asn198Tyr) | |
X | g.153870877T>C | CA415135415 | L1CAM | c.607A>G (p.Asn203Asp) c.592A>G (p.Asn198Asp) | gnomAD v4 |
X | g.153870877T>G | CA415135416 | L1CAM | c.607A>C (p.Asn203His) c.592A>C (p.Asn198His) | |
X | g.153870878G>A | CA519344259 | L1CAM | c.606C>T (p.Asp202=) c.591C>T (p.Asp197=) | |
X | g.153870878G>C | CA415135417 | L1CAM | c.606C>G (p.Asp202Glu) c.591C>G (p.Asp197Glu) | |
X | g.153870878G>T | CA415135418 | L1CAM | c.606C>A (p.Asp202Glu) c.591C>A (p.Asp197Glu) | |
X | g.153870879T>A | CA415135421 | L1CAM | c.605A>T (p.Asp202Val) c.590A>T (p.Asp197Val) | |
X | g.153870879T>C | CA415135427 | L1CAM | c.605A>G (p.Asp202Gly) c.590A>G (p.Asp197Gly) | |
X | g.153870879T>G | CA415135430 | L1CAM | c.605A>C (p.Asp202Ala) c.590A>C (p.Asp197Ala) | |
X | g.153870880C>A | CA16616745 | L1CAM | c.604G>T (p.Asp202Tyr) c.589G>T (p.Asp197Tyr) | |
X | g.153870880C= | CA2466507308 | L1CAM | c.604G= (p.Asp202=) c.589G= (p.Asp197=) | |
X | g.153870880C>G | CA415135432 | L1CAM | c.604G>C (p.Asp202His) c.589G>C (p.Asp197His) | |
X | g.153870880C>T | CA415135433 | L1CAM | c.604G>A (p.Asp202Asn) c.589G>A (p.Asp197Asn) | ClinVar dbSNP |
X | g.153870881G>A | CA246572 | L1CAM | c.603C>T (p.Ser201=) c.588C>T (p.Ser196=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.153870881G>C | CA337263757 | L1CAM | c.603C>G (p.Ser201=) c.588C>G (p.Ser196=) | ClinVar dbSNP gnomAD v4 |
X | g.153870881G= | CA2466507309 | L1CAM | c.603C= (p.Ser201=) c.588C= (p.Ser196=) | |
X | g.153870881G>T | CA519344263 | L1CAM | c.603C>A (p.Ser201=) c.588C>A (p.Ser196=) | |
X | g.153870882G>A | CA415135437 | L1CAM | c.602C>T (p.Ser201Phe) c.587C>T (p.Ser196Phe) | |
X | g.153870882G>C | CA415135441 | L1CAM | c.602C>G (p.Ser201Cys) c.587C>G (p.Ser196Cys) | |
X | g.153870882G>T | CA415135440 | L1CAM | c.602C>A (p.Ser201Tyr) c.587C>A (p.Ser196Tyr) | |
X | g.153870883A>C | CA415135444 | L1CAM | c.601T>G (p.Ser201Ala) c.586T>G (p.Ser196Ala) | |
X | g.153870883A>G | CA415135451 | L1CAM | c.601T>C (p.Ser201Pro) c.586T>C (p.Ser196Pro) | |
X | g.153870883A>T | CA415135453 | L1CAM | c.601T>A (p.Ser201Thr) c.586T>A (p.Ser196Thr) | |
X | g.153870884G>A | CA10554545 | L1CAM | c.600C>T (p.Thr200=) c.585C>T (p.Thr195=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870884G>C | CA519344267 | L1CAM | c.600C>G (p.Thr200=) c.585C>G (p.Thr195=) | |
X | g.153870884G= | CA2466507310 | L1CAM | c.600C= (p.Thr200=) c.585C= (p.Thr195=) | |
X | g.153870884G>T | CA519344266 | L1CAM | c.600C>A (p.Thr200=) c.585C>A (p.Thr195=) | |
X | g.153870885G>A | CA415135459 | L1CAM | c.599C>T (p.Thr200Ile) c.584C>T (p.Thr195Ile) | gnomAD v4 |
X | g.153870885G>C | CA415135461 | L1CAM | c.599C>G (p.Thr200Ser) c.584C>G (p.Thr195Ser) | |
X | g.153870885G>T | CA415135465 | L1CAM | c.599C>A (p.Thr200Asn) c.584C>A (p.Thr195Asn) | |
X | g.153870886T>A | CA415135470 | L1CAM | c.598A>T (p.Thr200Ser) c.583A>T (p.Thr195Ser) | |
X | g.153870886T>C | CA415135473 | L1CAM | c.598A>G (p.Thr200Ala) c.583A>G (p.Thr195Ala) | |
X | g.153870886T>G | CA415135476 | L1CAM | c.598A>C (p.Thr200Pro) c.583A>C (p.Thr195Pro) | |
X | g.153870887G>A | CA519344271 | L1CAM | c.597C>T (p.Leu199=) c.582C>T (p.Leu194=) | COSMIC |
X | g.153870887G>C | CA519344272 | L1CAM | c.597C>G (p.Leu199=) c.582C>G (p.Leu194=) | |
X | g.153870887G>T | CA519344273 | L1CAM | c.597C>A (p.Leu199=) c.582C>A (p.Leu194=) | |
X | g.153870888A>C | CA415135477 | L1CAM | c.596T>G (p.Leu199Arg) c.581T>G (p.Leu194Arg) | |
X | g.153870888A>G | CA415135479 | L1CAM | c.596T>C (p.Leu199Pro) c.581T>C (p.Leu194Pro) | |
X | g.153870888A>T | CA415135478 | L1CAM | c.596T>A (p.Leu199His) c.581T>A (p.Leu194His) | |
X | g.153870889G>A | CA415135480 | L1CAM | c.595C>T (p.Leu199Phe) c.580C>T (p.Leu194Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870889G>C | CA415135484 | L1CAM | c.595C>G (p.Leu199Val) c.580C>G (p.Leu194Val) | |
X | g.153870889G= | CA2466507311 | L1CAM | c.595C= (p.Leu199=) c.580C= (p.Leu194=) | |
X | g.153870889G>T | CA415135482 | L1CAM | c.595C>A (p.Leu199Ile) c.580C>A (p.Leu194Ile) | |
X | g.153870892_153870899del | CA2695236887 | L1CAM | c.588_595del (p.Asn197HisfsTer27) c.573_580del (p.Asn192HisfsTer27) | |
X | g.153870890C>A | CA519344275 | L1CAM | c.594G>T (p.Val198=) c.579G>T (p.Val193=) | |
X | g.153870890C>G | CA519344276 | L1CAM | c.594G>C (p.Val198=) c.579G>C (p.Val193=) | |
X | g.153870890C>T | CA519344277 | L1CAM | c.594G>A (p.Val198=) c.579G>A (p.Val193=) | |
X | g.153870891A= | CA2466507312 | L1CAM | c.593T= (p.Val198=) c.578T= (p.Val193=) | |
X | g.153870891A>C | CA415135489 | L1CAM | c.593T>G (p.Val198Gly) c.578T>G (p.Val193Gly) | |
X | g.153870891A>G | CA337263759 | L1CAM | c.593T>C (p.Val198Ala) c.578T>C (p.Val193Ala) | dbSNP gnomAD v4 |
X | g.153870891A>T | CA415135494 | L1CAM | c.593T>A (p.Val198Glu) c.578T>A (p.Val193Glu) | |
X | g.153870892C>A | CA415135501 | L1CAM | c.592G>T (p.Val198Leu) c.577G>T (p.Val193Leu) | |
X | g.153870892C>G | CA415135506 | L1CAM | c.592G>C (p.Val198Leu) c.577G>C (p.Val193Leu) | |
X | g.153870892C>T | CA415135509 | L1CAM | c.592G>A (p.Val198Met) c.577G>A (p.Val193Met) | |
X | g.153870893A= | CA2466507313 | L1CAM | c.591T= (p.Asn197=) c.576T= (p.Asn192=) | |
X | g.153870893A>C | CA415135511 | L1CAM | c.591T>G (p.Asn197Lys) c.576T>G (p.Asn192Lys) | |
X | g.153870893A>G | CA246570 | L1CAM | c.591T>C (p.Asn197=) c.576T>C (p.Asn192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870893A>T | CA415135517 | L1CAM | c.591T>A (p.Asn197Lys) c.576T>A (p.Asn192Lys) | |
X | g.153870894T>A | CA415135544 | L1CAM | c.590A>T (p.Asn197Ile) c.575A>T (p.Asn192Ile) | |
X | g.153870894T>C | CA415135540 | L1CAM | c.590A>G (p.Asn197Ser) c.575A>G (p.Asn192Ser) | gnomAD v4 |
X | g.153870894T>G | CA415135521 | L1CAM | c.590A>C (p.Asn197Thr) c.575A>C (p.Asn192Thr) | |
X | g.153870895T>A | CA415135556 | L1CAM | c.589A>T (p.Asn197Tyr) c.574A>T (p.Asn192Tyr) | |
X | g.153870895T>C | CA415135559 | L1CAM | c.589A>G (p.Asn197Asp) c.574A>G (p.Asn192Asp) | |
X | g.153870895T>G | CA415135561 | L1CAM | c.589A>C (p.Asn197His) c.574A>C (p.Asn192His) | |
X | g.153870896G>A | CA10554546 | L1CAM | c.588C>T (p.Ala196=) c.573C>T (p.Ala191=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153870896G>C | CA519344278 | L1CAM | c.588C>G (p.Ala196=) c.573C>G (p.Ala191=) | |
X | g.153870896G= | CA2466507314 | L1CAM | c.588C= (p.Ala196=) c.573C= (p.Ala191=) | |
X | g.153870896G>T | CA519344279 | L1CAM | c.588C>A (p.Ala196=) c.573C>A (p.Ala191=) | |
X | g.153870897G>A | CA415135565 | L1CAM | c.587C>T (p.Ala196Val) c.572C>T (p.Ala191Val) | gnomAD v4 |
X | g.153870897G>C | CA415135567 | L1CAM | c.587C>G (p.Ala196Gly) c.572C>G (p.Ala191Gly) | |
X | g.153870897G>T | CA415135569 | L1CAM | c.587C>A (p.Ala196Asp) c.572C>A (p.Ala191Asp) | |
X | g.153870898C>A | CA415135575 | L1CAM | c.586G>T (p.Ala196Ser) c.571G>T (p.Ala191Ser) | |
X | g.153870898C>G | CA415135576 | L1CAM | c.586G>C (p.Ala196Pro) c.571G>C (p.Ala191Pro) | |
X | g.153870898C>T | CA415135579 | L1CAM | c.586G>A (p.Ala196Thr) c.571G>A (p.Ala191Thr) | |
X | g.153870899A>C | CA415135585 | L1CAM | c.585T>G (p.Phe195Leu) c.570T>G (p.Phe190Leu) | |
X | g.153870899A>G | CA519344280 | L1CAM | c.585T>C (p.Phe195=) c.570T>C (p.Phe190=) | ClinVar gnomAD v4 |
X | g.153870899A>T | CA415135581 | L1CAM | c.585T>A (p.Phe195Leu) c.570T>A (p.Phe190Leu) | |
X | g.153870900A>C | CA415135592 | L1CAM | c.584T>G (p.Phe195Cys) c.569T>G (p.Phe190Cys) | |
X | g.153870900A>G | CA415135595 | L1CAM | c.584T>C (p.Phe195Ser) c.569T>C (p.Phe190Ser) | |
X | g.153870900A>T | CA415135601 | L1CAM | c.584T>A (p.Phe195Tyr) c.569T>A (p.Phe190Tyr) | |
X | g.153870901A>C | CA415135605 | L1CAM | c.583T>G (p.Phe195Val) c.568T>G (p.Phe190Val) | |
X | g.153870901A>G | CA415135608 | L1CAM | c.583T>C (p.Phe195Leu) c.568T>C (p.Phe190Leu) | |
X | g.153870901A>T | CA415135612 | L1CAM | c.583T>A (p.Phe195Ile) c.568T>A (p.Phe190Ile) | |
X | g.153870902G>A | CA519344281 | L1CAM | c.582C>T (p.Tyr194=) c.567C>T (p.Tyr189=) | |
X | g.153870902G>C | CA415135613 | L1CAM | c.582C>G (p.Tyr194Ter) c.567C>G (p.Tyr189Ter) | |
X | g.153870902G>T | CA415135614 | L1CAM | c.582C>A (p.Tyr194Ter) c.567C>A (p.Tyr189Ter) | |
X | g.153870903_153870911dup | CA2573130267 | L1CAM | c.574_582dup (p.Tyr194_Phe195insAsnLeuTyr) c.559_567dup (p.Tyr189_Phe190insAsnLeuTyr) | ClinVar dbSNP |
X | g.153870903T>A | CA415135616 | L1CAM | c.581A>T (p.Tyr194Phe) c.566A>T (p.Tyr189Phe) | |
X | g.153870903T>C | CA415135619 | L1CAM | c.581A>G (p.Tyr194Cys) c.566A>G (p.Tyr189Cys) | |
X | g.153870903T>G | CA415135621 | L1CAM | c.581A>C (p.Tyr194Ser) c.566A>C (p.Tyr189Ser) | |
X | g.153870904A>C | CA415135631 | L1CAM | c.580T>G (p.Tyr194Asp) c.565T>G (p.Tyr189Asp) | |
X | g.153870904A>G | CA415135628 | L1CAM | c.580T>C (p.Tyr194His) c.565T>C (p.Tyr189His) | |
X | g.153870904A>T | CA415135627 | L1CAM | c.580T>A (p.Tyr194Asn) c.565T>A (p.Tyr189Asn) | |
X | g.153870905G>A | CA10554547 | L1CAM | c.579C>T (p.Leu193=) c.564C>T (p.Leu188=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153870905G>C | CA519344283 | L1CAM | c.579C>G (p.Leu193=) c.564C>G (p.Leu188=) | |
X | g.153870905G= | CA2466507315 | L1CAM | c.579C= (p.Leu193=) c.564C= (p.Leu188=) | |
X | g.153870905G>T | CA519344282 | L1CAM | c.579C>A (p.Leu193=) c.564C>A (p.Leu188=) | |
X | g.153870906A>C | CA415135634 | L1CAM | c.578T>G (p.Leu193Arg) c.563T>G (p.Leu188Arg) | |
X | g.153870906A>G | CA415135648 | L1CAM | c.578T>C (p.Leu193Pro) c.563T>C (p.Leu188Pro) | |
X | g.153870906A>T | CA415135651 | L1CAM | c.578T>A (p.Leu193His) c.563T>A (p.Leu188His) | |
X | g.153870907G>A | CA415135657 | L1CAM | c.577C>T (p.Leu193Phe) c.562C>T (p.Leu188Phe) | |
X | g.153870907G>C | CA415135659 | L1CAM | c.577C>G (p.Leu193Val) c.562C>G (p.Leu188Val) | gnomAD v4 |
X | g.153870907G>T | CA415135662 | L1CAM | c.577C>A (p.Leu193Ile) c.562C>A (p.Leu188Ile) | |
X | g.153870908G>A | CA519344284 | L1CAM | c.576C>T (p.Asn192=) c.561C>T (p.Asn187=) | gnomAD v4 |
X | g.153870908G>C | CA415135666 | L1CAM | c.576C>G (p.Asn192Lys) c.561C>G (p.Asn187Lys) | |
X | g.153870908G>T | CA415135670 | L1CAM | c.576C>A (p.Asn192Lys) c.561C>A (p.Asn187Lys) | |
X | g.153870909T>A | CA415135675 | L1CAM | c.575A>T (p.Asn192Ile) c.560A>T (p.Asn187Ile) | |
X | g.153870909T>C | CA415135688 | L1CAM | c.575A>G (p.Asn192Ser) c.560A>G (p.Asn187Ser) | |
X | g.153870909T>G | CA415135691 | L1CAM | c.575A>C (p.Asn192Thr) c.560A>C (p.Asn187Thr) | |
X | g.153870910T>A | CA415135696 | L1CAM | c.574A>T (p.Asn192Tyr) c.559A>T (p.Asn187Tyr) | |
X | g.153870910T>C | CA415135700 | L1CAM | c.574A>G (p.Asn192Asp) c.559A>G (p.Asn187Asp) | |
X | g.153870910T>G | CA415135693 | L1CAM | c.574A>C (p.Asn192His) c.559A>C (p.Asn187His) | |
X | g.153870911G>A | CA519344285 | L1CAM | c.573C>T (p.Gly191=) c.558C>T (p.Gly186=) | |
X | g.153870911G>C | CA519344286 | L1CAM | c.573C>G (p.Gly191=) c.558C>G (p.Gly186=) | |
X | g.153870911G>T | CA519344287 | L1CAM | c.573C>A (p.Gly191=) c.558C>A (p.Gly186=) | |
X | g.153870912C>A | CA415135712 | L1CAM | c.572G>T (p.Gly191Val) c.557G>T (p.Gly186Val) | |
X | g.153870912C= | CA2466507316 | L1CAM | c.572G= (p.Gly191=) c.557G= (p.Gly186=) | |
X | g.153870912C>G | CA415135707 | L1CAM | c.572G>C (p.Gly191Ala) c.557G>C (p.Gly186Ala) | |
X | g.153870912C>T | CA415135709 | L1CAM | c.572G>A (p.Gly191Asp) c.557G>A (p.Gly186Asp) | dbSNP COSMIC |
X | g.153870913C>A | CA415135716 | L1CAM | c.571G>T (p.Gly191Cys) c.556G>T (p.Gly186Cys) | |
X | g.153870913C>G | CA415135717 | L1CAM | c.571G>C (p.Gly191Arg) c.556G>C (p.Gly186Arg) | |
X | g.153870913C>T | CA415135718 | L1CAM | c.571G>A (p.Gly191Ser) c.556G>A (p.Gly186Ser) | gnomAD v3 gnomAD v4 |
X | g.153870914G>A | CA10554548 | L1CAM | c.570C>T (p.Asn190=) c.555C>T (p.Asn185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870914G>C | CA415135722 | L1CAM | c.570C>G (p.Asn190Lys) c.555C>G (p.Asn185Lys) | gnomAD v4 |
X | g.153870914G= | CA2466507317 | L1CAM | c.570C= (p.Asn190=) c.555C= (p.Asn185=) | |
X | g.153870914G>T | CA415135733 | L1CAM | c.570C>A (p.Asn190Lys) c.555C>A (p.Asn185Lys) | |
X | g.153870915T>A | CA415135737 | L1CAM | c.569A>T (p.Asn190Ile) c.554A>T (p.Asn185Ile) | |
X | g.153870915T>C | CA415135743 | L1CAM | c.569A>G (p.Asn190Ser) c.554A>G (p.Asn185Ser) | |
X | g.153870915T>G | CA415135746 | L1CAM | c.569A>C (p.Asn190Thr) c.554A>C (p.Asn185Thr) | |
X | g.153870916T>A | CA415135749 | L1CAM | c.568A>T (p.Asn190Tyr) c.553A>T (p.Asn185Tyr) | |
X | g.153870916T>C | CA415135751 | L1CAM | c.568A>G (p.Asn190Asp) c.553A>G (p.Asn185Asp) | gnomAD v4 |
X | g.153870916T>G | CA415135754 | L1CAM | c.568A>C (p.Asn190His) c.553A>C (p.Asn185His) | |
X | g.153870917C>A | CA415135755 | L1CAM | c.567G>T (p.Gln189His) c.552G>T (p.Gln184His) | |
X | g.153870917C>G | CA415135756 | L1CAM | c.567G>C (p.Gln189His) c.552G>C (p.Gln184His) | COSMIC |
X | g.153870917C>T | CA519344288 | L1CAM | c.567G>A (p.Gln189=) c.552G>A (p.Gln184=) | |
X | g.153870918T>A | CA415135757 | L1CAM | c.566A>T (p.Gln189Leu) c.551A>T (p.Gln184Leu) | |
X | g.153870918T>C | CA415135758 | L1CAM | c.566A>G (p.Gln189Arg) c.551A>G (p.Gln184Arg) | dbSNP gnomAD v2 |
X | g.153870918T>G | CA415135760 | L1CAM | c.566A>C (p.Gln189Pro) c.551A>C (p.Gln184Pro) | |
X | g.153870918T= | CA2466507318 | L1CAM | c.566A= (p.Gln189=) c.551A= (p.Gln184=) | |
X | g.153870919G>A | CA415135761 | L1CAM | c.565C>T (p.Gln189Ter) c.550C>T (p.Gln184Ter) | ClinVar gnomAD v4 |
X | g.153870919G>C | CA415135764 | L1CAM | c.565C>G (p.Gln189Glu) c.550C>G (p.Gln184Glu) | |
X | g.153870919G>T | CA415135769 | L1CAM | c.565C>A (p.Gln189Lys) c.550C>A (p.Gln184Lys) | |
X | g.153870920G>A | CA519344289 | L1CAM | c.564C>T (p.Gly188=) c.549C>T (p.Gly183=) | |
X | g.153870920G>C | CA519344290 | L1CAM | c.564C>G (p.Gly188=) c.549C>G (p.Gly183=) | |
X | g.153870920G>T | CA519344291 | L1CAM | c.564C>A (p.Gly188=) c.549C>A (p.Gly183=) | |
X | g.153870921C>A | CA415135771 | L1CAM | c.563G>T (p.Gly188Val) c.548G>T (p.Gly183Val) | |
X | g.153870921C>G | CA415135774 | L1CAM | c.563G>C (p.Gly188Ala) c.548G>C (p.Gly183Ala) | |
X | g.153870921C>T | CA415135778 | L1CAM | c.563G>A (p.Gly188Asp) c.548G>A (p.Gly183Asp) | gnomAD v4 |
X | g.153870922C>A | CA415135784 | L1CAM | c.562G>T (p.Gly188Cys) c.547G>T (p.Gly183Cys) | |
X | g.153870922C= | CA2466507319 | L1CAM | c.562G= (p.Gly188=) c.547G= (p.Gly183=) | |
X | g.153870922C>G | CA415135788 | L1CAM | c.562G>C (p.Gly188Arg) c.547G>C (p.Gly183Arg) | |
X | g.153870922C>T | CA415135792 | L1CAM | c.562G>A (p.Gly188Ser) c.547G>A (p.Gly183Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870923C>A | CA415135798 | L1CAM | c.561G>T (p.Met187Ile) c.546G>T (p.Met182Ile) | COSMIC |
X | g.153870923C= | CA2466507320 | L1CAM | c.561G= (p.Met187=) c.546G= (p.Met182=) | |
X | g.153870923C>G | CA10554549 | L1CAM | c.561G>C (p.Met187Ile) c.546G>C (p.Met182Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153870923C>T | CA415135805 | L1CAM | c.561G>A (p.Met187Ile) c.546G>A (p.Met182Ile) | |
X | g.153870924A>C | CA415135808 | L1CAM | c.560T>G (p.Met187Arg) c.545T>G (p.Met182Arg) | |
X | g.153870924A>G | CA415135810 | L1CAM | c.560T>C (p.Met187Thr) c.545T>C (p.Met182Thr) | |
X | g.153870924A>T | CA415135813 | L1CAM | c.560T>A (p.Met187Lys) c.545T>A (p.Met182Lys) | |
X | g.153870925T>A | CA415135815 | L1CAM | c.559A>T (p.Met187Leu) c.544A>T (p.Met182Leu) | |
X | g.153870925T>C | CA415135818 | L1CAM | c.559A>G (p.Met187Val) c.544A>G (p.Met182Val) | |
X | g.153870925T>G | CA415135825 | L1CAM | c.559A>C (p.Met187Leu) c.544A>C (p.Met182Leu) | |
X | g.153870926C>A | CA10554551 | L1CAM | c.558G>T (p.Thr186=) c.543G>T (p.Thr181=) | dbSNP ExAC gnomAD v2 COSMIC |
X | g.153870926C= | CA2466507321 | L1CAM | c.558G= (p.Thr186=) c.543G= (p.Thr181=) | |
X | g.153870926C>G | CA519344292 | L1CAM | c.558G>C (p.Thr186=) c.543G>C (p.Thr181=) | ClinVar dbSNP gnomAD v4 |
X | g.153870926C>T | CA10554550 | L1CAM | c.558G>A (p.Thr186=) c.543G>A (p.Thr181=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870927G>A | CA10554552 | L1CAM | c.557C>T (p.Thr186Met) c.542C>T (p.Thr181Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.153870927G>C | CA415135837 | L1CAM | c.557C>G (p.Thr186Arg) c.542C>G (p.Thr181Arg) | |
X | g.153870927G= | CA2466507322 | L1CAM | c.557C= (p.Thr186=) c.542C= (p.Thr181=) | |
X | g.153870927G>T | CA415135839 | L1CAM | c.557C>A (p.Thr186Lys) c.542C>A (p.Thr181Lys) | |
X | g.153870928T>A | CA415135849 | L1CAM | c.556A>T (p.Thr186Ser) c.541A>T (p.Thr181Ser) | |
X | g.153870928T>C | CA415135843 | L1CAM | c.556A>G (p.Thr186Ala) c.541A>G (p.Thr181Ala) | |
X | g.153870928T>G | CA415135846 | L1CAM | c.556A>C (p.Thr186Pro) c.541A>C (p.Thr181Pro) | |
X | g.153870929C>A | CA519344293 | L1CAM | c.555G>T (p.Val185=) c.540G>T (p.Val180=) | |
X | g.153870929C>G | CA519344294 | L1CAM | c.555G>C (p.Val185=) c.540G>C (p.Val180=) | |
X | g.153870929C>T | CA519344295 | L1CAM | c.555G>A (p.Val185=) c.540G>A (p.Val180=) | |
X | g.153870930_153870931del | CA2579733056 | L1CAM | c.554_555del (p.Val185AspfsTer?) c.539_540del (p.Val180AspfsTer?) | |
X | g.153870930A>C | CA415135852 | L1CAM | c.554T>G (p.Val185Gly) c.539T>G (p.Val180Gly) | |
X | g.153870930A>G | CA415135855 | L1CAM | c.554T>C (p.Val185Ala) c.539T>C (p.Val180Ala) | |
X | g.153870930A>T | CA415135856 | L1CAM | c.554T>A (p.Val185Glu) c.539T>A (p.Val180Glu) | |
X | g.153870931C>A | CA415135859 | L1CAM | c.553G>T (p.Val185Leu) c.538G>T (p.Val180Leu) | |
X | g.153870931C>G | CA415135862 | L1CAM | c.553G>C (p.Val185Leu) c.538G>C (p.Val180Leu) | |
X | g.153870931C>T | CA415135865 | L1CAM | c.553G>A (p.Val185Met) c.538G>A (p.Val180Met) | |
X | g.153870932C>A | CA519344298 | L1CAM | c.552G>T (p.Arg184=) c.537G>T (p.Arg179=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.153870932C= | CA2466507323 | L1CAM | c.552G= (p.Arg184=) c.537G= (p.Arg179=) | |
X | g.153870932C>G | CA519344296 | L1CAM | c.552G>C (p.Arg184=) c.537G>C (p.Arg179=) | |
X | g.153870932C>T | CA519344297 | L1CAM | c.552G>A (p.Arg184=) c.537G>A (p.Arg179=) | |
X | g.153870933C>A | CA415135868 | L1CAM | c.551G>T (p.Arg184Leu) c.536G>T (p.Arg179Leu) | COSMIC |
X | g.153870933C= | CA2466507324 | L1CAM | c.551G= (p.Arg184=) c.536G= (p.Arg179=) | |
X | g.153870933C>G | CA415135871 | L1CAM | c.551G>C (p.Arg184Pro) c.536G>C (p.Arg179Pro) | |
X | g.153870933C>T | CA254959 | L1CAM | c.551G>A (p.Arg184Gln) c.536G>A (p.Arg179Gln) | ClinVar dbSNP |
X | g.153870934G>A | CA415135875 | L1CAM | c.550C>T (p.Arg184Trp) c.535C>T (p.Arg179Trp) | ClinVar COSMIC |
X | g.153870934G>C | CA415135878 | L1CAM | c.550C>G (p.Arg184Gly) c.535C>G (p.Arg179Gly) | |
X | g.153870934G>T | CA519344299 | L1CAM | c.550C>A (p.Arg184=) c.535C>A (p.Arg179=) | ClinVar |
X | g.153870935C>A | CA415135881 | L1CAM | c.549G>T (p.Glu183Asp) c.534G>T (p.Glu178Asp) | |
X | g.153870935C>G | CA415135884 | L1CAM | c.549G>C (p.Glu183Asp) c.534G>C (p.Glu178Asp) | |
X | g.153870935C>T | CA519344300 | L1CAM | c.549G>A (p.Glu183=) c.534G>A (p.Glu178=) | |
X | g.153870936T>A | CA415135890 | L1CAM | c.548A>T (p.Glu183Val) c.533A>T (p.Glu178Val) | |
X | g.153870936T>C | CA415135892 | L1CAM | c.548A>G (p.Glu183Gly) c.533A>G (p.Glu178Gly) | |
X | g.153870936T>G | CA415135893 | L1CAM | c.548A>C (p.Glu183Ala) c.533A>C (p.Glu178Ala) | |
X | g.153870937C>A | CA415135894 | L1CAM | c.547G>T (p.Glu183Ter) c.532G>T (p.Glu178Ter) | |
X | g.153870937C= | CA2466507325 | L1CAM | c.547G= (p.Glu183=) c.532G= (p.Glu178=) | |
X | g.153870937C>G | CA415135895 | L1CAM | c.547G>C (p.Glu183Gln) c.532G>C (p.Glu178Gln) | |
X | g.153870937C>T | CA10554553 | L1CAM | c.547G>A (p.Glu183Lys) c.532G>A (p.Glu178Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870938G>A | CA10554554 | L1CAM | c.546C>T (p.Asp182=) c.531C>T (p.Asp177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153870938G>C | CA415135901 | L1CAM | c.546C>G (p.Asp182Glu) c.531C>G (p.Asp177Glu) | |
X | g.153870938G= | CA2466507326 | L1CAM | c.546C= (p.Asp182=) c.531C= (p.Asp177=) | |
X | g.153870938G>T | CA415135903 | L1CAM | c.546C>A (p.Asp182Glu) c.531C>A (p.Asp177Glu) | |
X | g.153870939T>A | CA415135907 | L1CAM | c.545A>T (p.Asp182Val) c.530A>T (p.Asp177Val) | |
X | g.153870939T>C | CA415135910 | L1CAM | c.545A>G (p.Asp182Gly) c.530A>G (p.Asp177Gly) | |
X | g.153870939T>G | CA415135913 | L1CAM | c.545A>C (p.Asp182Ala) c.530A>C (p.Asp177Ala) | |
X | g.153870940C>A | CA415135922 | L1CAM | c.544G>T (p.Asp182Tyr) c.529G>T (p.Asp177Tyr) | |
X | g.153870940C>G | CA415135920 | L1CAM | c.544G>C (p.Asp182His) c.529G>C (p.Asp177His) | gnomAD v4 |
X | g.153870940C>T | CA415135917 | L1CAM | c.544G>A (p.Asp182Asn) c.529G>A (p.Asp177Asn) | |
X | g.153870941C>A | CA415135924 | L1CAM | c.543G>T (p.Gln181His) c.528G>T (p.Gln176His) | |
X | g.153870941C>G | CA415135927 | L1CAM | c.543G>C (p.Gln181His) c.528G>C (p.Gln176His) | |
X | g.153870941C>T | CA519344301 | L1CAM | c.543G>A (p.Gln181=) c.528G>A (p.Gln176=) | |
X | g.153870942T>A | CA415135931 | L1CAM | c.542A>T (p.Gln181Leu) c.527A>T (p.Gln176Leu) | |
X | g.153870942T>C | CA415135933 | L1CAM | c.542A>G (p.Gln181Arg) c.527A>G (p.Gln176Arg) | |
X | g.153870942T>G | CA415135936 | L1CAM | c.542A>C (p.Gln181Pro) c.527A>C (p.Gln176Pro) | |
X | g.153870943G>A | CA415135939 | L1CAM | c.541C>T (p.Gln181Ter) c.526C>T (p.Gln176Ter) | |
X | g.153870943G>C | CA415135942 | L1CAM | c.541C>G (p.Gln181Glu) c.526C>G (p.Gln176Glu) | |
X | g.153870943G>T | CA415135945 | L1CAM | c.541C>A (p.Gln181Lys) c.526C>A (p.Gln176Lys) | |
X | g.153870944C>A | CA415135948 | L1CAM | c.540G>T (p.Lys180Asn) c.525G>T (p.Lys175Asn) | COSMIC |
X | g.153870944C>G | CA415135951 | L1CAM | c.540G>C (p.Lys180Asn) c.525G>C (p.Lys175Asn) | |
X | g.153870944C>T | CA519344302 | L1CAM | c.540G>A (p.Lys180=) c.525G>A (p.Lys175=) | |
X | g.153870945T>A | CA415135954 | L1CAM | c.539A>T (p.Lys180Met) c.524A>T (p.Lys175Met) | |
X | g.153870945T>C | CA10554555 | L1CAM | c.539A>G (p.Lys180Arg) c.524A>G (p.Lys175Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153870945T>G | CA415135959 | L1CAM | c.539A>C (p.Lys180Thr) c.524A>C (p.Lys175Thr) | |
X | g.153870945T= | CA2466507327 | L1CAM | c.539A= (p.Lys180=) c.524A= (p.Lys175=) | |
X | g.153870946T>A | CA415135967 | L1CAM | c.538A>T (p.Lys180Ter) c.523A>T (p.Lys175Ter) | |
X | g.153870946T>C | CA415135970 | L1CAM | c.538A>G (p.Lys180Glu) c.523A>G (p.Lys175Glu) | |
X | g.153870946T>G | CA415135964 | L1CAM | c.538A>C (p.Lys180Gln) c.523A>C (p.Lys175Gln) | |
X | g.153870947G>A | CA519344303 | L1CAM | c.537C>T (p.Ile179=) c.522C>T (p.Ile174=) | |
X | g.153870947G>C | CA415135973 | L1CAM | c.537C>G (p.Ile179Met) c.522C>G (p.Ile174Met) | |
X | g.153870947G>T | CA519344304 | L1CAM | c.537C>A (p.Ile179=) c.522C>A (p.Ile174=) | |
X | g.153870948A= | CA2466507328 | L1CAM | c.536T= (p.Ile179=) c.521T= (p.Ile174=) | |
X | g.153870948A>C | CA254961 | L1CAM | c.536T>G (p.Ile179Ser) c.521T>G (p.Ile174Ser) | ClinVar dbSNP |
X | g.153870948A>G | CA415135978 | L1CAM | c.536T>C (p.Ile179Thr) c.521T>C (p.Ile174Thr) | |
X | g.153870948A>T | CA415135980 | L1CAM | c.536T>A (p.Ile179Asn) c.521T>A (p.Ile174Asn) |