Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.4955226A= | CA2244628375 | ENO3 | c.596A= (p.Lys199=) c.467A= (p.Lys156=) c.*542A= (n.*542A=) c.623A= (p.Lys208=) | |
17 | g.4955226A>C | CA397290312 | ENO3 | c.596A>C (p.Lys199Thr) c.467A>C (p.Lys156Thr) c.*542A>C (n.*542A>C) c.623A>C (p.Lys208Thr) | |
17 | g.4955226A>G | CA397290313 | ENO3 | c.596A>G (p.Lys199Arg) c.467A>G (p.Lys156Arg) c.*542A>G (n.*542A>G) c.623A>G (p.Lys208Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4955226A>T | CA397290316 | ENO3 | c.596A>T (p.Lys199Met) c.467A>T (p.Lys156Met) c.*542A>T (n.*542A>T) c.623A>T (p.Lys208Met) | |
17 | g.4955226_4955227insCGCG | CA624856705 | ENO3 | c.596_597insCGCG (p.Lys199AsnfsTer12) c.467_468insCGCG (p.Lys156AsnfsTer12) c.*542_*543insCGCG (n.*542_*543insCGCG) c.623_624insCGCG (p.Lys208AsnfsTer12) | dbSNP gnomAD v2 |
17 | g.4955227G>A | CA497679455 | ENO3 | c.597G>A (p.Lys199=) c.468G>A (p.Lys156=) c.*543G>A (n.*543G>A) c.624G>A (p.Lys208=) | |
17 | g.4955227G>C | CA397290318 | ENO3 | c.597G>C (p.Lys199Asn) c.468G>C (p.Lys156Asn) c.*543G>C (n.*543G>C) c.624G>C (p.Lys208Asn) | gnomAD v4 |
17 | g.4955227G>T | CA397290321 | ENO3 | c.597G>T (p.Lys199Asn) c.468G>T (p.Lys156Asn) c.*543G>T (n.*543G>T) c.624G>T (p.Lys208Asn) | |
17 | g.4955228T>A | CA397290323 | ENO3 | c.598T>A (p.Tyr200Asn) c.469T>A (p.Tyr157Asn) c.*544T>A (n.*544T>A) c.625T>A (p.Tyr209Asn) | |
17 | g.4955228T>C | CA397290325 | ENO3 | c.598T>C (p.Tyr200His) c.469T>C (p.Tyr157His) c.*544T>C (n.*544T>C) c.625T>C (p.Tyr209His) | |
17 | g.4955228T>G | CA397290327 | ENO3 | c.598T>G (p.Tyr200Asp) c.469T>G (p.Tyr157Asp) c.*544T>G (n.*544T>G) c.625T>G (p.Tyr209Asp) | |
17 | g.4955229A= | CA2244628379 | ENO3 | c.599A= (p.Tyr200=) c.470A= (p.Tyr157=) c.*545A= (n.*545A=) c.626A= (p.Tyr209=) | |
17 | g.4955229A>C | CA397290331 | ENO3 | c.599A>C (p.Tyr200Ser) c.470A>C (p.Tyr157Ser) c.*545A>C (n.*545A>C) c.626A>C (p.Tyr209Ser) | dbSNP gnomAD v2 |
17 | g.4955229A>G | CA397290335 | ENO3 | c.599A>G (p.Tyr200Cys) c.470A>G (p.Tyr157Cys) c.*545A>G (n.*545A>G) c.626A>G (p.Tyr209Cys) | dbSNP |
17 | g.4955229A>T | CA397290333 | ENO3 | c.599A>T (p.Tyr200Phe) c.470A>T (p.Tyr157Phe) c.*545A>T (n.*545A>T) c.626A>T (p.Tyr209Phe) | |
17 | g.4955230T>A | CA397290338 | ENO3 | c.600T>A (p.Tyr200Ter) c.471T>A (p.Tyr157Ter) c.*546T>A (n.*546T>A) c.627T>A (p.Tyr209Ter) | |
17 | g.4955230T>C | CA497679372 | ENO3 | c.600T>C (p.Tyr200=) c.471T>C (p.Tyr157=) c.*546T>C (n.*546T>C) c.627T>C (p.Tyr209=) | dbSNP gnomAD v4 |
17 | g.4955230T>G | CA397290340 | ENO3 | c.600T>G (p.Tyr200Ter) c.471T>G (p.Tyr157Ter) c.*546T>G (n.*546T>G) c.627T>G (p.Tyr209Ter) | |
17 | g.4955230T= | CA2244628383 | ENO3 | c.600T= (p.Tyr200=) c.471T= (p.Tyr157=) c.*546T= (n.*546T=) c.627T= (p.Tyr209=) | |
17 | g.4955231G>A | CA8316359 | ENO3 | c.601G>A (p.Gly201Arg) c.472G>A (p.Gly158Arg) c.*547G>A (n.*547G>A) c.628G>A (p.Gly210Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4955231G>C | CA397290344 | ENO3 | c.601G>C (p.Gly201Arg) c.472G>C (p.Gly158Arg) c.*547G>C (n.*547G>C) c.628G>C (p.Gly210Arg) | |
17 | g.4955231G= | CA2244628385 | ENO3 | c.601G= (p.Gly201=) c.472G= (p.Gly158=) c.*547G= (n.*547G=) c.628G= (p.Gly210=) | |
17 | g.4955231G>T | CA397290346 | ENO3 | c.601G>T (p.Gly201Trp) c.472G>T (p.Gly158Trp) c.*547G>T (n.*547G>T) c.628G>T (p.Gly210Trp) | |
17 | g.4955232G>A | CA397290349 | ENO3 | c.602G>A (p.Gly201Glu) c.473G>A (p.Gly158Glu) c.*548G>A (n.*548G>A) c.629G>A (p.Gly210Glu) | dbSNP gnomAD v4 COSMIC |
17 | g.4955232G>C | CA397290351 | ENO3 | c.602G>C (p.Gly201Ala) c.473G>C (p.Gly158Ala) c.*548G>C (n.*548G>C) c.629G>C (p.Gly210Ala) | |
17 | g.4955232G= | CA2244628389 | ENO3 | c.602G= (p.Gly201=) c.473G= (p.Gly158=) c.*548G= (n.*548G=) c.629G= (p.Gly210=) | |
17 | g.4955232G>T | CA397290353 | ENO3 | c.602G>T (p.Gly201Val) c.473G>T (p.Gly158Val) c.*548G>T (n.*548G>T) c.629G>T (p.Gly210Val) | COSMIC |
17 | g.4955232_4955238del | CA624856831 | ENO3 | c.602_608del (p.Gly201ValfsTer25) c.473_479del (p.Gly158ValfsTer25) c.*548_*554del (n.*548_*554del) c.602_608del (p.Gly201ValfsTer?) c.629_635del (p.Gly210ValfsTer25) | gnomAD v2 |
17 | g.4955233G>A | CA497679375 | ENO3 | c.603G>A (p.Gly201=) c.474G>A (p.Gly158=) c.*549G>A (n.*549G>A) c.630G>A (p.Gly210=) | dbSNP |
17 | g.4955233G>C | CA497679376 | ENO3 | c.603G>C (p.Gly201=) c.474G>C (p.Gly158=) c.*549G>C (n.*549G>C) c.630G>C (p.Gly210=) | |
17 | g.4955233G= | CA2244628392 | ENO3 | c.603G= (p.Gly201=) c.474G= (p.Gly158=) c.*549G= (n.*549G=) c.630G= (p.Gly210=) | |
17 | g.4955233G>T | CA497679377 | ENO3 | c.603G>T (p.Gly201=) c.474G>T (p.Gly158=) c.*549G>T (n.*549G>T) c.630G>T (p.Gly210=) | |
17 | g.4955234A>C | CA397290357 | ENO3 | c.604A>C (p.Lys202Gln) c.475A>C (p.Lys159Gln) c.*550A>C (n.*550A>C) c.631A>C (p.Lys211Gln) | |
17 | g.4955234A>G | CA397290359 | ENO3 | c.604A>G (p.Lys202Glu) c.475A>G (p.Lys159Glu) c.*550A>G (n.*550A>G) c.631A>G (p.Lys211Glu) | |
17 | g.4955234A>T | CA397290361 | ENO3 | c.604A>T (p.Lys202Ter) c.475A>T (p.Lys159Ter) c.*550A>T (n.*550A>T) c.631A>T (p.Lys211Ter) | |
17 | g.4955235A= | CA2244628395 | ENO3 | c.605A= (p.Lys202=) c.476A= (p.Lys159=) c.*551A= (n.*551A=) c.632A= (p.Lys211=) | |
17 | g.4955235A>C | CA397290368 | ENO3 | c.605A>C (p.Lys202Thr) c.476A>C (p.Lys159Thr) c.*551A>C (n.*551A>C) c.632A>C (p.Lys211Thr) | |
17 | g.4955235A>G | CA8316360 | ENO3 | c.605A>G (p.Lys202Arg) c.476A>G (p.Lys159Arg) c.*551A>G (n.*551A>G) c.632A>G (p.Lys211Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4955235A>T | CA397290365 | ENO3 | c.605A>T (p.Lys202Met) c.476A>T (p.Lys159Met) c.*551A>T (n.*551A>T) c.632A>T (p.Lys211Met) | |
17 | g.4955236G>A | CA497679380 | ENO3 | c.606G>A (p.Lys202=) c.477G>A (p.Lys159=) c.*552G>A (n.*552G>A) c.633G>A (p.Lys211=) | gnomAD v4 |
17 | g.4955236G>C | CA397290370 | ENO3 | c.606G>C (p.Lys202Asn) c.477G>C (p.Lys159Asn) c.*552G>C (n.*552G>C) c.633G>C (p.Lys211Asn) | |
17 | g.4955236G>T | CA397290372 | ENO3 | c.606G>T (p.Lys202Asn) c.477G>T (p.Lys159Asn) c.*552G>T (n.*552G>T) c.633G>T (p.Lys211Asn) | |
17 | g.4955237G>A | CA397290376 | ENO3 | c.607G>A (p.Asp203Asn) c.478G>A (p.Asp160Asn) c.*553G>A (n.*553G>A) c.634G>A (p.Asp212Asn) | gnomAD v4 |
17 | g.4955237G>C | CA397290378 | ENO3 | c.607G>C (p.Asp203His) c.478G>C (p.Asp160His) c.*553G>C (n.*553G>C) c.634G>C (p.Asp212His) | |
17 | g.4955237G>T | CA397290380 | ENO3 | c.607G>T (p.Asp203Tyr) c.478G>T (p.Asp160Tyr) c.*553G>T (n.*553G>T) c.634G>T (p.Asp212Tyr) | |
17 | g.4955238A>C | CA397290384 | ENO3 | c.608A>C (p.Asp203Ala) c.479A>C (p.Asp160Ala) c.*554A>C (n.*554A>C) c.635A>C (p.Asp212Ala) | |
17 | g.4955238A>G | CA397290385 | ENO3 | c.608A>G (p.Asp203Gly) c.479A>G (p.Asp160Gly) c.*554A>G (n.*554A>G) c.635A>G (p.Asp212Gly) | |
17 | g.4955238A>T | CA397290388 | ENO3 | c.608A>T (p.Asp203Val) c.479A>T (p.Asp160Val) c.*554A>T (n.*554A>T) c.635A>T (p.Asp212Val) | |
17 | g.4955239T>A | CA397290390 | ENO3 | c.609T>A (p.Asp203Glu) c.480T>A (p.Asp160Glu) c.*555T>A (n.*555T>A) c.636T>A (p.Asp212Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.4955239T>C | CA497679381 | ENO3 | c.609T>C (p.Asp203=) c.480T>C (p.Asp160=) c.*555T>C (n.*555T>C) c.636T>C (p.Asp212=) | COSMIC |
17 | g.4955239T>G | CA397290392 | ENO3 | c.609T>G (p.Asp203Glu) c.480T>G (p.Asp160Glu) c.*555T>G (n.*555T>G) c.636T>G (p.Asp212Glu) | |
17 | g.4955239T= | CA2244628397 | ENO3 | c.609T= (p.Asp203=) c.480T= (p.Asp160=) c.*555T= (n.*555T=) c.636T= (p.Asp212=) | |
17 | g.4955239_4955240delinsTG | CA2244628398 | ENO3 | c.609_610delinsTG (p.Asp203=) c.480_481delinsTG (p.Asp160=) c.*555_*556delinsTG (n.*555_*556delinsTG) c.636_637delinsTG (p.Asp212=) | |
17 | g.4955240del | CA624856833 | ENO3 | c.610del (p.Ala204ProfsTer24) c.481del (p.Ala161ProfsTer24) c.*556del (n.*556del) c.610del (p.Ala204ProfsTer?) c.637del (p.Ala213ProfsTer24) | dbSNP gnomAD v2 |
17 | g.4955240G>A | CA397290394 | ENO3 | c.610G>A (p.Ala204Thr) c.481G>A (p.Ala161Thr) c.*556G>A (n.*556G>A) c.637G>A (p.Ala213Thr) | gnomAD v4 |
17 | g.4955240G>C | CA397290397 | ENO3 | c.610G>C (p.Ala204Pro) c.481G>C (p.Ala161Pro) c.*556G>C (n.*556G>C) c.637G>C (p.Ala213Pro) | |
17 | g.4955240G>T | CA397290398 | ENO3 | c.610G>T (p.Ala204Ser) c.481G>T (p.Ala161Ser) c.*556G>T (n.*556G>T) c.637G>T (p.Ala213Ser) | |
17 | g.4955241C>A | CA397290404 | ENO3 | c.611C>A (p.Ala204Asp) c.482C>A (p.Ala161Asp) c.*557C>A (n.*557C>A) c.638C>A (p.Ala213Asp) | |
17 | g.4955241C>G | CA397290406 | ENO3 | c.611C>G (p.Ala204Gly) c.482C>G (p.Ala161Gly) c.*557C>G (n.*557C>G) c.638C>G (p.Ala213Gly) | |
17 | g.4955241C>T | CA397290402 | ENO3 | c.611C>T (p.Ala204Val) c.482C>T (p.Ala161Val) c.*557C>T (n.*557C>T) c.638C>T (p.Ala213Val) | |
17 | g.4955242C>A | CA497679386 | ENO3 | c.612C>A (p.Ala204=) c.483C>A (p.Ala161=) c.*558C>A (n.*558C>A) c.639C>A (p.Ala213=) | |
17 | g.4955242C>G | CA497679385 | ENO3 | c.612C>G (p.Ala204=) c.483C>G (p.Ala161=) c.*558C>G (n.*558C>G) c.639C>G (p.Ala213=) | |
17 | g.4955242C>T | CA497679384 | ENO3 | c.612C>T (p.Ala204=) c.483C>T (p.Ala161=) c.*558C>T (n.*558C>T) c.639C>T (p.Ala213=) | gnomAD v4 |
17 | g.4955243A= | CA2244628403 | ENO3 | c.613A= (p.Thr205=) c.484A= (p.Thr162=) c.*559A= (n.*559A=) c.640A= (p.Thr214=) | |
17 | g.4955243A>C | CA397290410 | ENO3 | c.613A>C (p.Thr205Pro) c.484A>C (p.Thr162Pro) c.*559A>C (n.*559A>C) c.640A>C (p.Thr214Pro) | |
17 | g.4955243A>G | CA8316361 | ENO3 | c.613A>G (p.Thr205Ala) c.484A>G (p.Thr162Ala) c.*559A>G (n.*559A>G) c.640A>G (p.Thr214Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4955243A>T | CA397290408 | ENO3 | c.613A>T (p.Thr205Ser) c.484A>T (p.Thr162Ser) c.*559A>T (n.*559A>T) c.640A>T (p.Thr214Ser) | |
17 | g.4955244C>A | CA397290413 | ENO3 | c.614C>A (p.Thr205Asn) c.485C>A (p.Thr162Asn) c.*560C>A (n.*560C>A) c.641C>A (p.Thr214Asn) | |
17 | g.4955244C>G | CA397290416 | ENO3 | c.614C>G (p.Thr205Ser) c.485C>G (p.Thr162Ser) c.*560C>G (n.*560C>G) c.641C>G (p.Thr214Ser) | |
17 | g.4955244C>T | CA397290418 | ENO3 | c.614C>T (p.Thr205Ile) c.485C>T (p.Thr162Ile) c.*560C>T (n.*560C>T) c.641C>T (p.Thr214Ile) | |
17 | g.4955245C>A | CA497679390 | ENO3 | c.615C>A (p.Thr205=) c.486C>A (p.Thr162=) c.*561C>A (n.*561C>A) c.642C>A (p.Thr214=) | |
17 | g.4955245C= | CA2244628405 | ENO3 | c.615C= (p.Thr205=) c.486C= (p.Thr162=) c.*561C= (n.*561C=) c.642C= (p.Thr214=) | |
17 | g.4955245C>G | CA497679391 | ENO3 | c.615C>G (p.Thr205=) c.486C>G (p.Thr162=) c.*561C>G (n.*561C>G) c.642C>G (p.Thr214=) | |
17 | g.4955245C>T | CA8316362 | ENO3 | c.615C>T (p.Thr205=) c.486C>T (p.Thr162=) c.*561C>T (n.*561C>T) c.642C>T (p.Thr214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4955246A= | CA2244628407 | ENO3 | c.616A= (p.Asn206=) c.487A= (p.Asn163=) c.*562A= (n.*562A=) c.643A= (p.Asn215=) | |
17 | g.4955246A>C | CA397290426 | ENO3 | c.616A>C (p.Asn206His) c.487A>C (p.Asn163His) c.*562A>C (n.*562A>C) c.643A>C (p.Asn215His) | |
17 | g.4955246A>G | CA397290424 | ENO3 | c.616A>G (p.Asn206Asp) c.487A>G (p.Asn163Asp) c.*562A>G (n.*562A>G) c.643A>G (p.Asn215Asp) | dbSNP gnomAD v2 |
17 | g.4955246A>T | CA397290422 | ENO3 | c.616A>T (p.Asn206Tyr) c.487A>T (p.Asn163Tyr) c.*562A>T (n.*562A>T) c.643A>T (p.Asn215Tyr) | |
17 | g.4955247A= | CA2244628409 | ENO3 | c.617A= (p.Asn206=) c.488A= (p.Asn163=) c.*563A= (n.*563A=) c.644A= (p.Asn215=) | |
17 | g.4955247A>C | CA397290428 | ENO3 | c.617A>C (p.Asn206Thr) c.488A>C (p.Asn163Thr) c.*563A>C (n.*563A>C) c.644A>C (p.Asn215Thr) | |
17 | g.4955247A>G | CA397290430 | ENO3 | c.617A>G (p.Asn206Ser) c.488A>G (p.Asn163Ser) c.*563A>G (n.*563A>G) c.644A>G (p.Asn215Ser) | dbSNP gnomAD v2 |
17 | g.4955247A>T | CA397290432 | ENO3 | c.617A>T (p.Asn206Ile) c.488A>T (p.Asn163Ile) c.*563A>T (n.*563A>T) c.644A>T (p.Asn215Ile) | |
17 | g.4955248T>A | CA397290436 | ENO3 | c.618T>A (p.Asn206Lys) c.489T>A (p.Asn163Lys) c.*564T>A (n.*564T>A) c.645T>A (p.Asn215Lys) | dbSNP |
17 | g.4955248T>C | CA8316363 | ENO3 | c.618T>C (p.Asn206=) c.489T>C (p.Asn163=) c.*564T>C (n.*564T>C) c.645T>C (p.Asn215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4955248T>G | CA397290440 | ENO3 | c.618T>G (p.Asn206Lys) c.489T>G (p.Asn163Lys) c.*564T>G (n.*564T>G) c.645T>G (p.Asn215Lys) | |
17 | g.4955248T= | CA2244628413 | ENO3 | c.618T= (p.Asn206=) c.489T= (p.Asn163=) c.*564T= (n.*564T=) c.645T= (p.Asn215=) | |
17 | g.4955249G>A | CA397290447 | ENO3 | c.619G>A (p.Val207Met) c.490G>A (p.Val164Met) c.*565G>A (n.*565G>A) c.646G>A (p.Val216Met) | |
17 | g.4955249G>C | CA397290443 | ENO3 | c.619G>C (p.Val207Leu) c.490G>C (p.Val164Leu) c.*565G>C (n.*565G>C) c.646G>C (p.Val216Leu) | dbSNP gnomAD v2 |
17 | g.4955249G= | CA2244628417 | ENO3 | c.619G= (p.Val207=) c.490G= (p.Val164=) c.*565G= (n.*565G=) c.646G= (p.Val216=) | |
17 | g.4955249G>T | CA397290445 | ENO3 | c.619G>T (p.Val207Leu) c.490G>T (p.Val164Leu) c.*565G>T (n.*565G>T) c.646G>T (p.Val216Leu) | |
17 | g.4955250T>A | CA397290451 | ENO3 | c.620T>A (p.Val207Glu) c.491T>A (p.Val164Glu) c.*566T>A (n.*566T>A) c.647T>A (p.Val216Glu) | |
17 | g.4955250T>C | CA397290453 | ENO3 | c.620T>C (p.Val207Ala) c.491T>C (p.Val164Ala) c.*566T>C (n.*566T>C) c.647T>C (p.Val216Ala) | |
17 | g.4955250T>G | CA397290456 | ENO3 | c.620T>G (p.Val207Gly) c.491T>G (p.Val164Gly) c.*566T>G (n.*566T>G) c.647T>G (p.Val216Gly) | |
17 | g.4955251G>A | CA497679400 | ENO3 | c.621G>A (p.Val207=) c.492G>A (p.Val164=) c.*567G>A (n.*567G>A) c.648G>A (p.Val216=) | |
17 | g.4955251G>C | CA497679401 | ENO3 | c.621G>C (p.Val207=) c.492G>C (p.Val164=) c.*567G>C (n.*567G>C) c.648G>C (p.Val216=) | |
17 | g.4955251G>T | CA497679402 | ENO3 | c.621G>T (p.Val207=) c.492G>T (p.Val164=) c.*567G>T (n.*567G>T) c.648G>T (p.Val216=) | |
17 | g.4955252G>A | CA397290458 | ENO3 | c.622G>A (p.Gly208Ser) c.493G>A (p.Gly165Ser) c.*568G>A (n.*568G>A) c.649G>A (p.Gly217Ser) | gnomAD v4 |
17 | g.4955252G>C | CA397290460 | ENO3 | c.622G>C (p.Gly208Arg) c.493G>C (p.Gly165Arg) c.*568G>C (n.*568G>C) c.649G>C (p.Gly217Arg) | |
17 | g.4955252G>T | CA397290470 | ENO3 | c.622G>T (p.Gly208Cys) c.493G>T (p.Gly165Cys) c.*568G>T (n.*568G>T) c.649G>T (p.Gly217Cys) | |
17 | g.4955253G>A | CA397290473 | ENO3 | c.623G>A (p.Gly208Asp) c.494G>A (p.Gly165Asp) c.*569G>A (n.*569G>A) c.650G>A (p.Gly217Asp) | |
17 | g.4955253G>C | CA8316364 | ENO3 | c.623G>C (p.Gly208Ala) c.494G>C (p.Gly165Ala) c.*569G>C (n.*569G>C) c.650G>C (p.Gly217Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4955253G= | CA2244628420 | ENO3 | c.623G= (p.Gly208=) c.494G= (p.Gly165=) c.*569G= (n.*569G=) c.650G= (p.Gly217=) | |
17 | g.4955253G>T | CA8316365 | ENO3 | c.623G>T (p.Gly208Val) c.494G>T (p.Gly165Val) c.*569G>T (n.*569G>T) c.650G>T (p.Gly217Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.4955254T>A | CA497679406 | ENO3 | c.624T>A (p.Gly208=) c.495T>A (p.Gly165=) c.*570T>A (n.*570T>A) c.651T>A (p.Gly217=) | |
17 | g.4955254T>C | CA497679407 | ENO3 | c.624T>C (p.Gly208=) c.495T>C (p.Gly165=) c.*570T>C (n.*570T>C) c.651T>C (p.Gly217=) | dbSNP gnomAD v2 |
17 | g.4955254T>G | CA497679408 | ENO3 | c.624T>G (p.Gly208=) c.495T>G (p.Gly165=) c.*570T>G (n.*570T>G) c.651T>G (p.Gly217=) | dbSNP |
17 | g.4955254T= | CA2244628422 | ENO3 | c.624T= (p.Gly208=) c.495T= (p.Gly165=) c.*570T= (n.*570T=) c.651T= (p.Gly217=) | |
17 | g.4955255G>A | CA397290481 | ENO3 | c.625G>A (p.Asp209Asn) c.496G>A (p.Asp166Asn) c.*571G>A (n.*571G>A) c.652G>A (p.Asp218Asn) | |
17 | g.4955255G>C | CA397290484 | ENO3 | c.625G>C (p.Asp209His) c.496G>C (p.Asp166His) c.*571G>C (n.*571G>C) c.652G>C (p.Asp218His) | |
17 | g.4955255G>T | CA397290486 | ENO3 | c.625G>T (p.Asp209Tyr) c.496G>T (p.Asp166Tyr) c.*571G>T (n.*571G>T) c.652G>T (p.Asp218Tyr) | |
17 | g.4955255dup | CA8316366 | ENO3 | c.625dup (p.Asp209GlyfsTer2) c.496dup (p.Asp166GlyfsTer2) c.*571dup (n.*571dup) c.652dup (p.Asp218GlyfsTer2) | dbSNP ExAC gnomAD v2 |
17 | g.4955256A>C | CA397290489 | ENO3 | c.626A>C (p.Asp209Ala) c.497A>C (p.Asp166Ala) c.*572A>C (n.*572A>C) c.653A>C (p.Asp218Ala) | |
17 | g.4955256A>G | CA397290493 | ENO3 | c.626A>G (p.Asp209Gly) c.497A>G (p.Asp166Gly) c.*572A>G (n.*572A>G) c.653A>G (p.Asp218Gly) | |
17 | g.4955256A>T | CA397290491 | ENO3 | c.626A>T (p.Asp209Val) c.497A>T (p.Asp166Val) c.*572A>T (n.*572A>T) c.653A>T (p.Asp218Val) | |
17 | g.4955257T>A | CA397290496 | ENO3 | c.627T>A (p.Asp209Glu) c.498T>A (p.Asp166Glu) c.*573T>A (n.*573T>A) c.654T>A (p.Asp218Glu) | |
17 | g.4955257T>C | CA497679412 | ENO3 | c.627T>C (p.Asp209=) c.498T>C (p.Asp166=) c.*573T>C (n.*573T>C) c.654T>C (p.Asp218=) | dbSNP gnomAD v2 |
17 | g.4955257T>G | CA397290498 | ENO3 | c.627T>G (p.Asp209Glu) c.498T>G (p.Asp166Glu) c.*573T>G (n.*573T>G) c.654T>G (p.Asp218Glu) | |
17 | g.4955257T= | CA2244628425 | ENO3 | c.627T= (p.Asp209=) c.498T= (p.Asp166=) c.*573T= (n.*573T=) c.654T= (p.Asp218=) | |
17 | g.4955258G>A | CA397290501 | ENO3 | c.628G>A (p.Glu210Lys) c.499G>A (p.Glu167Lys) c.*574G>A (n.*574G>A) c.655G>A (p.Glu219Lys) | |
17 | g.4955258G>C | CA397290502 | ENO3 | c.628G>C (p.Glu210Gln) c.499G>C (p.Glu167Gln) c.*574G>C (n.*574G>C) c.655G>C (p.Glu219Gln) | |
17 | g.4955258G>T | CA397290503 | ENO3 | c.628G>T (p.Glu210Ter) c.499G>T (p.Glu167Ter) c.*574G>T (n.*574G>T) c.655G>T (p.Glu219Ter) | |
17 | g.4955259A>C | CA397290504 | ENO3 | c.629A>C (p.Glu210Ala) c.500A>C (p.Glu167Ala) c.*575A>C (n.*575A>C) c.656A>C (p.Glu219Ala) | |
17 | g.4955259A>G | CA397290505 | ENO3 | c.629A>G (p.Glu210Gly) c.500A>G (p.Glu167Gly) c.*575A>G (n.*575A>G) c.656A>G (p.Glu219Gly) | gnomAD v4 |
17 | g.4955259A>T | CA397290506 | ENO3 | c.629A>T (p.Glu210Val) c.500A>T (p.Glu167Val) c.*575A>T (n.*575A>T) c.656A>T (p.Glu219Val) | |
17 | g.4955260A= | CA2244628426 | ENO3 | c.630A= (p.Glu210=) c.501A= (p.Glu167=) c.*576A= (n.*576A=) c.657A= (p.Glu219=) | |
17 | g.4955260A>C | CA397290507 | ENO3 | c.630A>C (p.Glu210Asp) c.501A>C (p.Glu167Asp) c.*576A>C (n.*576A>C) c.657A>C (p.Glu219Asp) | |
17 | g.4955260A>G | CA497679414 | ENO3 | c.630A>G (p.Glu210=) c.501A>G (p.Glu167=) c.*576A>G (n.*576A>G) c.657A>G (p.Glu219=) | dbSNP gnomAD v2 |
17 | g.4955260A>T | CA397290508 | ENO3 | c.630A>T (p.Glu210Asp) c.501A>T (p.Glu167Asp) c.*576A>T (n.*576A>T) c.657A>T (p.Glu219Asp) | |
17 | g.4955261G>A | CA397290509 | ENO3 | c.631G>A (p.Gly211Ser) c.502G>A (p.Gly168Ser) c.*577G>A (n.*577G>A) c.658G>A (p.Gly220Ser) | |
17 | g.4955261G>C | CA397290510 | ENO3 | c.631G>C (p.Gly211Arg) c.502G>C (p.Gly168Arg) c.*577G>C (n.*577G>C) c.658G>C (p.Gly220Arg) | |
17 | g.4955261G>T | CA397290511 | ENO3 | c.631G>T (p.Gly211Cys) c.502G>T (p.Gly168Cys) c.*577G>T (n.*577G>T) c.658G>T (p.Gly220Cys) | |
17 | g.4955262G>A | CA397290513 | ENO3 | c.632G>A (p.Gly211Asp) c.503G>A (p.Gly168Asp) c.*578G>A (n.*578G>A) c.659G>A (p.Gly220Asp) | |
17 | g.4955262G>C | CA397290512 | ENO3 | c.632G>C (p.Gly211Ala) c.503G>C (p.Gly168Ala) c.*578G>C (n.*578G>C) c.659G>C (p.Gly220Ala) | |
17 | g.4955262G= | CA2244628427 | ENO3 | c.632G= (p.Gly211=) c.503G= (p.Gly168=) c.*578G= (n.*578G=) c.659G= (p.Gly220=) | |
17 | g.4955262G>T | CA8316367 | ENO3 | c.632G>T (p.Gly211Val) c.503G>T (p.Gly168Val) c.*578G>T (n.*578G>T) c.659G>T (p.Gly220Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4955263T>A | CA497679417 | ENO3 | c.633T>A (p.Gly211=) c.504T>A (p.Gly168=) c.*579T>A (n.*579T>A) c.660T>A (p.Gly220=) | |
17 | g.4955263T>C | CA497679421 | ENO3 | c.633T>C (p.Gly211=) c.504T>C (p.Gly168=) c.*579T>C (n.*579T>C) c.660T>C (p.Gly220=) | dbSNP |
17 | g.4955263T>G | CA497679419 | ENO3 | c.633T>G (p.Gly211=) c.504T>G (p.Gly168=) c.*579T>G (n.*579T>G) c.660T>G (p.Gly220=) | |
17 | g.4955263T= | CA2244628428 | ENO3 | c.633T= (p.Gly211=) c.504T= (p.Gly168=) c.*579T= (n.*579T=) c.660T= (p.Gly220=) | |
17 | g.4955264G>A | CA397290514 | ENO3 | c.634G>A (p.Gly212Ser) c.505G>A (p.Gly169Ser) c.*580G>A (n.*580G>A) c.661G>A (p.Gly221Ser) | |
17 | g.4955264G>C | CA397290515 | ENO3 | c.634G>C (p.Gly212Arg) c.505G>C (p.Gly169Arg) c.*580G>C (n.*580G>C) c.661G>C (p.Gly221Arg) | |
17 | g.4955264G>T | CA397290516 | ENO3 | c.634G>T (p.Gly212Cys) c.505G>T (p.Gly169Cys) c.*580G>T (n.*580G>T) c.661G>T (p.Gly221Cys) | |
17 | g.4955265G>A | CA397290517 | ENO3 | c.635G>A (p.Gly212Asp) c.506G>A (p.Gly169Asp) c.*581G>A (n.*581G>A) c.662G>A (p.Gly221Asp) | |
17 | g.4955265G>C | CA397290518 | ENO3 | c.635G>C (p.Gly212Ala) c.506G>C (p.Gly169Ala) c.*581G>C (n.*581G>C) c.662G>C (p.Gly221Ala) | |
17 | g.4955265G= | CA2244628429 | ENO3 | c.635G= (p.Gly212=) c.506G= (p.Gly169=) c.*581G= (n.*581G=) c.662G= (p.Gly221=) | |
17 | g.4955265G>T | CA397290520 | ENO3 | c.635G>T (p.Gly212Val) c.506G>T (p.Gly169Val) c.*581G>T (n.*581G>T) c.662G>T (p.Gly221Val) | dbSNP gnomAD v4 |
17 | g.4955266C>A | CA497679426 | ENO3 | c.636C>A (p.Gly212=) c.507C>A (p.Gly169=) c.*582C>A (n.*582C>A) c.663C>A (p.Gly221=) | gnomAD v4 |
17 | g.4955266C= | CA2244628430 | ENO3 | c.636C= (p.Gly212=) c.507C= (p.Gly169=) c.*582C= (n.*582C=) c.663C= (p.Gly221=) | |
17 | g.4955266C>G | CA497679427 | ENO3 | c.636C>G (p.Gly212=) c.507C>G (p.Gly169=) c.*582C>G (n.*582C>G) c.663C>G (p.Gly221=) | |
17 | g.4955266C>T | CA497679428 | ENO3 | c.636C>T (p.Gly212=) c.507C>T (p.Gly169=) c.*582C>T (n.*582C>T) c.663C>T (p.Gly221=) | dbSNP |
17 | g.4955267T>A | CA397290523 | ENO3 | c.637T>A (p.Phe213Ile) c.508T>A (p.Phe170Ile) c.*583T>A (n.*583T>A) c.637T>A c.664T>A (p.Phe222Ile) | |
17 | g.4955267T>C | CA397290525 | ENO3 | c.637T>C (p.Phe213Leu) c.508T>C (p.Phe170Leu) c.*583T>C (n.*583T>C) c.637T>C c.664T>C (p.Phe222Leu) | |
17 | g.4955267T>G | CA397290528 | ENO3 | c.637T>G (p.Phe213Val) c.508T>G (p.Phe170Val) c.*583T>G (n.*583T>G) c.637T>G c.664T>G (p.Phe222Val) | |
17 | g.4955268T>A | CA397290532 | ENO3 | c.638T>A (p.Phe213Tyr) c.509T>A (p.Phe170Tyr) c.*584T>A (n.*584T>A) c.638T>A c.665T>A (p.Phe222Tyr) | |
17 | g.4955268T>C | CA397290533 | ENO3 | c.638T>C (p.Phe213Ser) c.509T>C (p.Phe170Ser) c.*584T>C (n.*584T>C) c.638T>C c.665T>C (p.Phe222Ser) | |
17 | g.4955268T>G | CA397290535 | ENO3 | c.638T>G (p.Phe213Cys) c.509T>G (p.Phe170Cys) c.*584T>G (n.*584T>G) c.638T>G c.665T>G (p.Phe222Cys) | |
17 | g.4955268_4955273delinsTCGCAC | CA2244628431 | ENO3 | c.638_643delinsTCGCAC (p.Phe213=) c.509_514delinsTCGCAC (p.Phe170=) c.*584_*589delinsTCGCAC (n.*584_*589delinsTCGCAC) c.665_670delinsTCGCAC (p.Phe222=) | |
17 | g.4955269C>A | CA287175950 | ENO3 | c.639C>A (p.Phe213Leu) c.510C>A (p.Phe170Leu) c.*585C>A (n.*585C>A) c.666C>A (p.Phe222Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.4955269C= | CA2244628432 | ENO3 | c.639C= (p.Phe213=) c.510C= (p.Phe170=) c.*585C= (n.*585C=) c.666C= (p.Phe222=) | |
17 | g.4955269C>G | CA397290541 | ENO3 | c.639C>G (p.Phe213Leu) c.510C>G (p.Phe170Leu) c.*585C>G (n.*585C>G) c.666C>G (p.Phe222Leu) | |
17 | g.4955269C>T | CA8316368 | ENO3 | c.639C>T (p.Phe213=) c.510C>T (p.Phe170=) c.*585C>T (n.*585C>T) c.666C>T (p.Phe222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.4955270_4955274del | CA772695530 | ENO3 | c.640_644del (p.Ala214GlnfsTer7) c.511_515del (p.Ala171GlnfsTer7) c.*586_*590del (n.*586_*590del) c.667_671del (p.Ala223GlnfsTer7) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4955270G>A | CA397290545 | ENO3 | c.640G>A (p.Ala214Thr) c.511G>A (p.Ala171Thr) c.*586G>A (n.*586G>A) c.667G>A (p.Ala223Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.4955270G>C | CA397290550 | ENO3 | c.640G>C (p.Ala214Pro) c.511G>C (p.Ala171Pro) c.*586G>C (n.*586G>C) c.667G>C (p.Ala223Pro) | gnomAD v4 |
17 | g.4955270G= | CA2244628433 | ENO3 | c.640G= (p.Ala214=) c.511G= (p.Ala171=) c.*586G= (n.*586G=) c.667G= (p.Ala223=) | |
17 | g.4955270G>T | CA397290547 | ENO3 | c.640G>T (p.Ala214Ser) c.511G>T (p.Ala171Ser) c.*586G>T (n.*586G>T) c.667G>T (p.Ala223Ser) | COSMIC |
17 | g.4955271C>A | CA397290554 | ENO3 | c.641C>A (p.Ala214Glu) c.512C>A (p.Ala171Glu) c.*587C>A (n.*587C>A) c.668C>A (p.Ala223Glu) | |
17 | g.4955271C= | CA2244628434 | ENO3 | c.641C= (p.Ala214=) c.512C= (p.Ala171=) c.*587C= (n.*587C=) c.668C= (p.Ala223=) | |
17 | g.4955271C>G | CA397290556 | ENO3 | c.641C>G (p.Ala214Gly) c.512C>G (p.Ala171Gly) c.*587C>G (n.*587C>G) c.668C>G (p.Ala223Gly) | |
17 | g.4955271C>T | CA397290558 | ENO3 | c.641C>T (p.Ala214Val) c.512C>T (p.Ala171Val) c.*587C>T (n.*587C>T) c.668C>T (p.Ala223Val) | dbSNP gnomAD v4 |
17 | g.4955271_4955272insGCCGA | CA2558840170 | ENO3 | c.641_642insGCCGA (p.Ile217ProfsTer13) c.512_513insGCCGA (p.Ile174ProfsTer13) c.*587_*588insGCCGA (n.*587_*588insGCCGA) c.668_669insGCCGA (p.Ile226ProfsTer13) | |
17 | g.4955272A= | CA2244628435 | ENO3 | c.642A= (p.Ala214=) c.513A= (p.Ala171=) c.*588A= (n.*588A=) c.669A= (p.Ala223=) | |
17 | g.4955272A>C | CA497679434 | ENO3 | c.642A>C (p.Ala214=) c.513A>C (p.Ala171=) c.*588A>C (n.*588A>C) c.669A>C (p.Ala223=) | |
17 | g.4955272A>G | CA497679436 | ENO3 | c.642A>G (p.Ala214=) c.513A>G (p.Ala171=) c.*588A>G (n.*588A>G) c.669A>G (p.Ala223=) | dbSNP gnomAD v2 |
17 | g.4955272A>T | CA497679438 | ENO3 | c.642A>T (p.Ala214=) c.513A>T (p.Ala171=) c.*588A>T (n.*588A>T) c.669A>T (p.Ala223=) | |
17 | g.4955273C>A | CA397290561 | ENO3 | c.643C>A (p.Pro215Thr) c.514C>A (p.Pro172Thr) c.*589C>A (n.*589C>A) c.670C>A (p.Pro224Thr) | |
17 | g.4955273C= | CA2244628436 | ENO3 | c.643C= (p.Pro215=) c.514C= (p.Pro172=) c.*589C= (n.*589C=) c.670C= (p.Pro224=) | |
17 | g.4955273C>G | CA397290563 | ENO3 | c.643C>G (p.Pro215Ala) c.514C>G (p.Pro172Ala) c.*589C>G (n.*589C>G) c.670C>G (p.Pro224Ala) | dbSNP gnomAD v4 |
17 | g.4955273C>T | CA397290565 | ENO3 | c.643C>T (p.Pro215Ser) c.514C>T (p.Pro172Ser) c.*589C>T (n.*589C>T) c.670C>T (p.Pro224Ser) | dbSNP gnomAD v4 |
17 | g.4955274C>A | CA8316369 | ENO3 | c.644C>A (p.Pro215His) c.515C>A (p.Pro172His) c.*590C>A (n.*590C>A) c.671C>A (p.Pro224His) | dbSNP ExAC gnomAD v2 |
17 | g.4955274C= | CA2244628437 | ENO3 | c.644C= (p.Pro215=) c.515C= (p.Pro172=) c.*590C= (n.*590C=) c.671C= (p.Pro224=) | |
17 | g.4955274C>G | CA397290569 | ENO3 | c.644C>G (p.Pro215Arg) c.515C>G (p.Pro172Arg) c.*590C>G (n.*590C>G) c.671C>G (p.Pro224Arg) | |
17 | g.4955274C>T | CA397290572 | ENO3 | c.644C>T (p.Pro215Leu) c.515C>T (p.Pro172Leu) c.*590C>T (n.*590C>T) c.671C>T (p.Pro224Leu) | |
17 | g.4955275C>A | CA497679441 | ENO3 | c.645C>A (p.Pro215=) c.516C>A (p.Pro172=) c.*591C>A (n.*591C>A) c.672C>A (p.Pro224=) | |
17 | g.4955275C>G | CA497679442 | ENO3 | c.645C>G (p.Pro215=) c.516C>G (p.Pro172=) c.*591C>G (n.*591C>G) c.672C>G (p.Pro224=) | |
17 | g.4955275C>T | CA497679444 | ENO3 | c.645C>T (p.Pro215=) c.516C>T (p.Pro172=) c.*591C>T (n.*591C>T) c.672C>T (p.Pro224=) | |
17 | g.4955276A= | CA2244628438 | ENO3 | c.646A= (p.Asn216=) c.517A= (p.Asn173=) c.*592A= (n.*592A=) c.673A= (p.Asn225=) | |
17 | g.4955276A>C | CA397290574 | ENO3 | c.646A>C (p.Asn216His) c.517A>C (p.Asn173His) c.*592A>C (n.*592A>C) c.673A>C (p.Asn225His) | |
17 | g.4955276A>G | CA397290578 | ENO3 | c.646A>G (p.Asn216Asp) c.517A>G (p.Asn173Asp) c.*592A>G (n.*592A>G) c.673A>G (p.Asn225Asp) | dbSNP |
17 | g.4955276A>T | CA397290580 | ENO3 | c.646A>T (p.Asn216Tyr) c.517A>T (p.Asn173Tyr) c.*592A>T (n.*592A>T) c.673A>T (p.Asn225Tyr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4955277A= | CA2244628439 | ENO3 | c.647A= (p.Asn216=) c.518A= (p.Asn173=) c.*593A= (n.*593A=) c.674A= (p.Asn225=) | |
17 | g.4955277A>C | CA397290587 | ENO3 | c.647A>C (p.Asn216Thr) c.518A>C (p.Asn173Thr) c.*593A>C (n.*593A>C) c.674A>C (p.Asn225Thr) | |
17 | g.4955277A>G | CA8316370 | ENO3 | c.647A>G (p.Asn216Ser) c.518A>G (p.Asn173Ser) c.*593A>G (n.*593A>G) c.674A>G (p.Asn225Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4955277A>T | CA397290584 | ENO3 | c.647A>T (p.Asn216Ile) c.518A>T (p.Asn173Ile) c.*593A>T (n.*593A>T) c.674A>T (p.Asn225Ile) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4955278C>A | CA397290590 | ENO3 | c.648C>A (p.Asn216Lys) c.519C>A (p.Asn173Lys) c.*594C>A (n.*594C>A) c.675C>A (p.Asn225Lys) | |
17 | g.4955278C= | CA2244628441 | ENO3 | c.648C= (p.Asn216=) c.519C= (p.Asn173=) c.*594C= (n.*594C=) c.675C= (p.Asn225=) | |
17 | g.4955278C>G | CA397290592 | ENO3 | c.648C>G (p.Asn216Lys) c.519C>G (p.Asn173Lys) c.*594C>G (n.*594C>G) c.675C>G (p.Asn225Lys) | |
17 | g.4955278C>T | CA287175969 | ENO3 | c.648C>T (p.Asn216=) c.519C>T (p.Asn173=) c.*594C>T (n.*594C>T) c.675C>T (p.Asn225=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4955279A= | CA2244628442 | ENO3 | c.649A= (p.Ile217=) c.520A= (p.Ile174=) c.*595A= (n.*595A=) c.676A= (p.Ile226=) | |
17 | g.4955279A>C | CA397290595 | ENO3 | c.649A>C (p.Ile217Leu) c.520A>C (p.Ile174Leu) c.*595A>C (n.*595A>C) c.676A>C (p.Ile226Leu) | |
17 | g.4955279A>G | CA397290596 | ENO3 | c.649A>G (p.Ile217Val) c.520A>G (p.Ile174Val) c.*595A>G (n.*595A>G) c.676A>G (p.Ile226Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4955279A>T | CA397290597 | ENO3 | c.649A>T (p.Ile217Phe) c.520A>T (p.Ile174Phe) c.*595A>T (n.*595A>T) c.676A>T (p.Ile226Phe) | |
17 | g.4955280T>A | CA397290600 | ENO3 | c.650T>A (p.Ile217Asn) c.521T>A (p.Ile174Asn) c.*596T>A (n.*596T>A) c.677T>A (p.Ile226Asn) | |
17 | g.4955280T>C | CA397290602 | ENO3 | c.650T>C (p.Ile217Thr) c.521T>C (p.Ile174Thr) c.*596T>C (n.*596T>C) c.677T>C (p.Ile226Thr) | |
17 | g.4955280T>G | CA397290604 | ENO3 | c.650T>G (p.Ile217Ser) c.521T>G (p.Ile174Ser) c.*596T>G (n.*596T>G) c.677T>G (p.Ile226Ser) | |
17 | g.4955281C>A | CA497679450 | ENO3 | c.651C>A (p.Ile217=) c.522C>A (p.Ile174=) c.*597C>A (n.*597C>A) c.678C>A (p.Ile226=) | |
17 | g.4955281C= | CA2244628443 | ENO3 | c.651C= (p.Ile217=) c.522C= (p.Ile174=) c.*597C= (n.*597C=) c.678C= (p.Ile226=) | |
17 | g.4955281C>G | CA397290607 | ENO3 | c.651C>G (p.Ile217Met) c.522C>G (p.Ile174Met) c.*597C>G (n.*597C>G) c.678C>G (p.Ile226Met) | |
17 | g.4955281C>T | CA497679453 | ENO3 | c.651C>T (p.Ile217=) c.522C>T (p.Ile174=) c.*597C>T (n.*597C>T) c.678C>T (p.Ile226=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4955282del | CA2635584814 | ENO3 | c.652del (p.Leu218TrpfsTer10) c.523del (p.Leu175TrpfsTer10) c.*598del (n.*598del) c.679del (p.Leu227TrpfsTer10) | gnomAD v4 |
17 | g.4955282C>A | CA397290610 | ENO3 | c.652C>A (p.Leu218Met) c.523C>A (p.Leu175Met) c.*598C>A (n.*598C>A) c.679C>A (p.Leu227Met) | |
17 | g.4955282C= | CA2244628444 | ENO3 | c.652C= (p.Leu218=) c.523C= (p.Leu175=) c.*598C= (n.*598C=) c.679C= (p.Leu227=) | |
17 | g.4955282C>G | CA397290611 | ENO3 | c.652C>G (p.Leu218Val) c.523C>G (p.Leu175Val) c.*598C>G (n.*598C>G) c.679C>G (p.Leu227Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4955282C>T | CA497679454 | ENO3 | c.652C>T (p.Leu218=) c.523C>T (p.Leu175=) c.*598C>T (n.*598C>T) c.679C>T (p.Leu227=) | |
17 | g.4955283T>A | CA397290619 | ENO3 | c.653T>A (p.Leu218Gln) c.524T>A (p.Leu175Gln) c.*599T>A (n.*599T>A) c.680T>A (p.Leu227Gln) | |
17 | g.4955283T>C | CA397290616 | ENO3 | c.653T>C (p.Leu218Pro) c.524T>C (p.Leu175Pro) c.*599T>C (n.*599T>C) c.680T>C (p.Leu227Pro) | |
17 | g.4955283T>G | CA397290614 | ENO3 | c.653T>G (p.Leu218Arg) c.524T>G (p.Leu175Arg) c.*599T>G (n.*599T>G) c.680T>G (p.Leu227Arg) | |
17 | g.4955284G>A | CA497679456 | ENO3 | c.654G>A (p.Leu218=) c.525G>A (p.Leu175=) c.*600G>A (n.*600G>A) c.681G>A (p.Leu227=) | gnomAD v4 |
17 | g.4955284G>C | CA497679457 | ENO3 | c.654G>C (p.Leu218=) c.525G>C (p.Leu175=) c.*600G>C (n.*600G>C) c.681G>C (p.Leu227=) | |
17 | g.4955284G= | CA2244628445 | ENO3 | c.654G= (p.Leu218=) c.525G= (p.Leu175=) c.*600G= (n.*600G=) c.681G= (p.Leu227=) | |
17 | g.4955284G>T | CA8316371 | ENO3 | c.654G>T (p.Leu218=) c.525G>T (p.Leu175=) c.*600G>T (n.*600G>T) c.681G>T (p.Leu227=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4955285G>A | CA397290623 | ENO3 | c.655G>A (p.Glu219Lys) c.526G>A (p.Glu176Lys) c.*601G>A (n.*601G>A) c.682G>A (p.Glu228Lys) | |
17 | g.4955285G>C | CA397290625 | ENO3 | c.655G>C (p.Glu219Gln) c.526G>C (p.Glu176Gln) c.*601G>C (n.*601G>C) c.682G>C (p.Glu228Gln) | |
17 | g.4955285G>T | CA397290627 | ENO3 | c.655G>T (p.Glu219Ter) c.526G>T (p.Glu176Ter) c.*601G>T (n.*601G>T) c.682G>T (p.Glu228Ter) | |
17 | g.4955286A>C | CA397290630 | ENO3 | c.656A>C (p.Glu219Ala) c.527A>C (p.Glu176Ala) c.*602A>C (n.*602A>C) c.683A>C (p.Glu228Ala) | |
17 | g.4955286A>G | CA397290632 | ENO3 | c.656A>G (p.Glu219Gly) c.527A>G (p.Glu176Gly) c.*602A>G (n.*602A>G) c.683A>G (p.Glu228Gly) | |
17 | g.4955286A>T | CA397290634 | ENO3 | c.656A>T (p.Glu219Val) c.527A>T (p.Glu176Val) c.*602A>T (n.*602A>T) c.683A>T (p.Glu228Val) | |
17 | g.4955287G>A | CA8316372 | ENO3 | c.657G>A (p.Glu219=) c.528G>A (p.Glu176=) c.*603G>A (n.*603G>A) c.684G>A (p.Glu228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4955287G>C | CA397290637 | ENO3 | c.657G>C (p.Glu219Asp) c.528G>C (p.Glu176Asp) c.*603G>C (n.*603G>C) c.684G>C (p.Glu228Asp) | |
17 | g.4955287G= | CA2244628446 | ENO3 | c.657G= (p.Glu219=) c.528G= (p.Glu176=) c.*603G= (n.*603G=) c.684G= (p.Glu228=) | |
17 | g.4955287G>T | CA397290640 | ENO3 | c.657G>T (p.Glu219Asp) c.528G>T (p.Glu176Asp) c.*603G>T (n.*603G>T) c.684G>T (p.Glu228Asp) | |
17 | g.4955288A= | CA2244628447 | ENO3 | c.658A= (p.Asn220=) c.529A= (p.Asn177=) c.*604A= (n.*604A=) c.685A= (p.Asn229=) | |
17 | g.4955288A>C | CA397290643 | ENO3 | c.658A>C (p.Asn220His) c.529A>C (p.Asn177His) c.*604A>C (n.*604A>C) c.685A>C (p.Asn229His) | |
17 | g.4955288A>G | CA397290645 | ENO3 | c.658A>G (p.Asn220Asp) c.529A>G (p.Asn177Asp) c.*604A>G (n.*604A>G) c.685A>G (p.Asn229Asp) | dbSNP gnomAD v4 |
17 | g.4955288A>T | CA397290647 | ENO3 | c.658A>T (p.Asn220Tyr) c.529A>T (p.Asn177Tyr) c.*604A>T (n.*604A>T) c.685A>T (p.Asn229Tyr) | |
17 | g.4955289A>C | CA397290655 | ENO3 | c.659A>C (p.Asn220Thr) c.530A>C (p.Asn177Thr) c.*605A>C (n.*605A>C) c.686A>C (p.Asn229Thr) | |
17 | g.4955289A>G | CA397290650 | ENO3 | c.659A>G (p.Asn220Ser) c.530A>G (p.Asn177Ser) c.*605A>G (n.*605A>G) c.686A>G (p.Asn229Ser) | |
17 | g.4955289A>T | CA397290653 | ENO3 | c.659A>T (p.Asn220Ile) c.530A>T (p.Asn177Ile) c.*605A>T (n.*605A>T) c.686A>T (p.Asn229Ile) | |
17 | g.4955290C>A | CA397290657 | ENO3 | c.660C>A (p.Asn220Lys) c.531C>A (p.Asn177Lys) c.*606C>A (n.*606C>A) c.687C>A (p.Asn229Lys) | |
17 | g.4955290C>G | CA397290660 | ENO3 | c.660C>G (p.Asn220Lys) c.531C>G (p.Asn177Lys) c.*606C>G (n.*606C>G) c.687C>G (p.Asn229Lys) | |
17 | g.4955290C>T | CA497679460 | ENO3 | c.660C>T (p.Asn220=) c.531C>T (p.Asn177=) c.*606C>T (n.*606C>T) c.687C>T (p.Asn229=) | |
17 | g.4955290_4955293delinsCAAT | CA2244628448 | ENO3 | c.660_663delinsCAAT (p.Asn220=) c.531_534delinsCAAT (p.Asn177=) c.*606_*609delinsCAAT (n.*606_*609delinsCAAT) c.687_690delinsCAAT (p.Asn229=) | |
17 | g.4955291A= | CA2244628449 | ENO3 | c.661A= (p.Asn221=) c.532A= (p.Asn178=) c.*607A= (n.*607A=) c.688A= (p.Asn230=) | |
17 | g.4955291A>C | CA397290663 | ENO3 | c.661A>C (p.Asn221His) c.532A>C (p.Asn178His) c.*607A>C (n.*607A>C) c.688A>C (p.Asn230His) | dbSNP gnomAD v4 |
17 | g.4955291A>G | CA287175983 | ENO3 | c.661A>G (p.Asn221Asp) c.532A>G (p.Asn178Asp) c.*607A>G (n.*607A>G) c.688A>G (p.Asn230Asp) | dbSNP |
17 | g.4955291A>T | CA397290667 | ENO3 | c.661A>T (p.Asn221Tyr) c.532A>T (p.Asn178Tyr) c.*607A>T (n.*607A>T) c.688A>T (p.Asn230Tyr) | |
17 | g.4955291_4955293del | CA8316373 | ENO3 | c.661_663del (p.Asn221del) c.532_534del (p.Asn178del) c.*607_*609del (n.*607_*609del) c.688_690del (p.Asn230del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4955292A= | CA2244628451 | ENO3 | c.662A= (p.Asn221=) c.533A= (p.Asn178=) c.*608A= (n.*608A=) c.689A= (p.Asn230=) | |
17 | g.4955292A>C | CA397290671 | ENO3 | c.662A>C (p.Asn221Thr) c.533A>C (p.Asn178Thr) c.*608A>C (n.*608A>C) c.689A>C (p.Asn230Thr) | |
17 | g.4955292A>G | CA287175984 | ENO3 | c.662A>G (p.Asn221Ser) c.533A>G (p.Asn178Ser) c.*608A>G (n.*608A>G) c.689A>G (p.Asn230Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.4955292A>T | CA397290674 | ENO3 | c.662A>T (p.Asn221Ile) c.533A>T (p.Asn178Ile) c.*608A>T (n.*608A>T) c.689A>T (p.Asn230Ile) | |
17 | g.4955293del | CA2808297892 | ENO3 | c.663del (p.Asn221LysfsTer7) c.534del (p.Asn178LysfsTer7) c.*609del (n.*609del) c.690del (p.Asn230LysfsTer7) | |
17 | g.4955293T>A | CA397290676 | ENO3 | c.663T>A (p.Asn221Lys) c.534T>A (p.Asn178Lys) c.*609T>A (n.*609T>A) c.690T>A (p.Asn230Lys) | |
17 | g.4955293T>C | CA497679464 | ENO3 | c.663T>C (p.Asn221=) c.534T>C (p.Asn178=) c.*609T>C (n.*609T>C) c.690T>C (p.Asn230=) | |
17 | g.4955293T>G | CA397290679 | ENO3 | c.663T>G (p.Asn221Lys) c.534T>G (p.Asn178Lys) c.*609T>G (n.*609T>G) c.690T>G (p.Asn230Lys) | |
17 | g.4955294G>A | CA397290686 | ENO3 | c.664G>A (p.Glu222Lys) c.535G>A (p.Glu179Lys) c.*610G>A (n.*610G>A) c.691G>A (p.Glu231Lys) | |
17 | g.4955294G>C | CA397290685 | ENO3 | c.664G>C (p.Glu222Gln) c.535G>C (p.Glu179Gln) c.*610G>C (n.*610G>C) c.691G>C (p.Glu231Gln) | dbSNP |
17 | g.4955294G= | CA2244628454 | ENO3 | c.664G= (p.Glu222=) c.535G= (p.Glu179=) c.*610G= (n.*610G=) c.691G= (p.Glu231=) | |
17 | g.4955294G>T | CA397290682 | ENO3 | c.664G>T (p.Glu222Ter) c.535G>T (p.Glu179Ter) c.*610G>T (n.*610G>T) c.691G>T (p.Glu231Ter) | |
17 | g.4955295del | CA2808297893 | ENO3 | c.665del (p.Glu222GlyfsTer6) c.536del (p.Glu179GlyfsTer6) c.*611del (n.*611del) c.692del (p.Glu231GlyfsTer6) | |
17 | g.4955295A>C | CA397290690 | ENO3 | c.665A>C (p.Glu222Ala) c.536A>C (p.Glu179Ala) c.*611A>C (n.*611A>C) c.692A>C (p.Glu231Ala) | |
17 | g.4955295A>G | CA397290694 | ENO3 | c.665A>G (p.Glu222Gly) c.536A>G (p.Glu179Gly) c.*611A>G (n.*611A>G) c.692A>G (p.Glu231Gly) | |
17 | g.4955295A>T | CA397290692 | ENO3 | c.665A>T (p.Glu222Val) c.536A>T (p.Glu179Val) c.*611A>T (n.*611A>T) c.692A>T (p.Glu231Val) | |
17 | g.4955296G>A | CA497679466 | ENO3 | c.666G>A (p.Glu222=) c.537G>A (p.Glu179=) c.*612G>A (n.*612G>A) c.693G>A (p.Glu231=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4955296G>C | CA397290697 | ENO3 | c.666G>C (p.Glu222Asp) c.537G>C (p.Glu179Asp) c.*612G>C (n.*612G>C) c.693G>C (p.Glu231Asp) | |
17 | g.4955296G= | CA2244628457 | ENO3 | c.666G= (p.Glu222=) c.537G= (p.Glu179=) c.*612G= (n.*612G=) c.693G= (p.Glu231=) | |
17 | g.4955296G>T | CA397290699 | ENO3 | c.666G>T (p.Glu222Asp) c.537G>T (p.Glu179Asp) c.*612G>T (n.*612G>T) c.693G>T (p.Glu231Asp) | |
17 | g.4955297G>A | CA397290703 | ENO3 | c.667G>A (p.Ala223Thr) c.538G>A (p.Ala180Thr) c.*613G>A (n.*613G>A) c.694G>A (p.Ala232Thr) | gnomAD v4 |
17 | g.4955297G>C | CA397290705 | ENO3 | c.667G>C (p.Ala223Pro) c.538G>C (p.Ala180Pro) c.*613G>C (n.*613G>C) c.694G>C (p.Ala232Pro) | |
17 | g.4955297G>T | CA397290707 | ENO3 | c.667G>T (p.Ala223Ser) c.538G>T (p.Ala180Ser) c.*613G>T (n.*613G>T) c.694G>T (p.Ala232Ser) | |
17 | g.4955298_4955406del | CA2808297894 | ENO3 | c.667+1_668-1del c.538+1_539-1del c.*613+1_*614-1del c.694+1_695-1del | |
17 | g.4955298G>A | CA397290710 | ENO3 | c.667+1G>A (n.667+1G>A) c.538+1G>A (n.538+1G>A) c.*613+1G>A (n.*613+1G>A) c.694+1G>A (n.694+1G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4955298G>C | CA287175985 | ENO3 | c.667+1G>C (n.667+1G>C) c.538+1G>C (n.538+1G>C) c.*613+1G>C (n.*613+1G>C) c.694+1G>C (n.694+1G>C) | dbSNP gnomAD v4 |
17 | g.4955298G= | CA2244628458 | ENO3 | c.667+1G= (n.667+1G=) c.538+1G= (n.538+1G=) c.*613+1G= (n.*613+1G=) c.694+1G= (n.694+1G=) | |
17 | g.4955298G>T | CA397290715 | ENO3 | c.667+1G>T (n.667+1G>T) c.538+1G>T (n.538+1G>T) c.*613+1G>T (n.*613+1G>T) c.694+1G>T (n.694+1G>T) | |
17 | g.4955299T>A | CA397290718 | ENO3 | c.667+2T>A (n.667+2T>A) c.538+2T>A (n.538+2T>A) c.*613+2T>A (n.*613+2T>A) c.694+2T>A (n.694+2T>A) | gnomAD v4 |
17 | g.4955299T>C | CA397290720 | ENO3 | c.667+2T>C (n.667+2T>C) c.538+2T>C (n.538+2T>C) c.*613+2T>C (n.*613+2T>C) c.694+2T>C (n.694+2T>C) | |
17 | g.4955299T>G | CA397290723 | ENO3 | c.667+2T>G (n.667+2T>G) c.538+2T>G (n.538+2T>G) c.*613+2T>G (n.*613+2T>G) c.694+2T>G (n.694+2T>G) | |
17 | g.4955302G>A | CA2576136662 | ENO3 | c.667+5G>A (n.667+5G>A) c.538+5G>A (n.538+5G>A) c.*613+5G>A (n.*613+5G>A) c.694+5G>A (n.694+5G>A) | gnomAD v4 |
17 | g.4955303del | CA2635584829 | ENO3 | c.667+6del (n.667+6del) c.538+6del (n.538+6del) c.*613+6del (n.*613+6del) c.694+6del (n.694+6del) | gnomAD v4 |
17 | g.4955304G>A | CA2635584830 | ENO3 | c.667+7G>A (n.667+7G>A) c.538+7G>A (n.538+7G>A) c.*613+7G>A (n.*613+7G>A) c.694+7G>A (n.694+7G>A) | gnomAD v4 |
17 | g.4955304_4955305delinsGC | CA2244628460 | ENO3 | c.667+7_667+8delinsGC (n.667+7_667+8delinsGC) c.538+7_538+8delinsGC (n.538+7_538+8delinsGC) c.*613+7_*613+8delinsGC (n.*613+7_*613+8delinsGC) c.694+7_694+8delinsGC (n.694+7_694+8delinsGC) | |
17 | g.4955305del | CA2244628462 | ENO3 | c.667+8del (n.667+8del) c.538+8del (n.538+8del) c.*613+8del (n.*613+8del) c.694+8del (n.694+8del) | dbSNP |
17 | g.4955305C= | CA2244628461 | ENO3 | c.667+8C= (n.667+8C=) c.538+8C= (n.538+8C=) c.*613+8C= (n.*613+8C=) c.694+8C= (n.694+8C=) | |
17 | g.4955305C>T | CA2244628464 | ENO3 | c.667+8C>T (n.667+8C>T) c.538+8C>T (n.538+8C>T) c.*613+8C>T (n.*613+8C>T) c.694+8C>T (n.694+8C>T) | dbSNP gnomAD v4 |
17 | g.4955306_4955307insTTTTTTAAT | CA980979717 | ENO3 | c.667+9_667+10insTTTTTTAAT (n.667+9_667+10insTTTTTTAAT) c.538+9_538+10insTTTTTTAAT (n.538+9_538+10insTTTTTTAAT) c.*613+9_*613+10insTTTTTTAAT (n.*613+9_*613+10insTTTTTTAAT) c.694+9_694+10insTTTTTTAAT (n.694+9_694+10insTTTTTTAAT) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4955307_4955308delinsGA | CA2244628466 | ENO3 | c.667+10_667+11delinsGA (n.667+10_667+11delinsGA) c.538+10_538+11delinsGA (n.538+10_538+11delinsGA) c.*613+10_*613+11delinsGA (n.*613+10_*613+11delinsGA) c.694+10_694+11delinsGA (n.694+10_694+11delinsGA) | |
17 | g.4955308del | CA8316374 | ENO3 | c.667+11del (n.667+11del) c.538+11del (n.538+11del) c.*613+11del (n.*613+11del) c.694+11del (n.694+11del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4955308_4955309delinsAG | CA2244628468 | ENO3 | c.667+11_667+12delinsAG (n.667+11_667+12delinsAG) c.538+11_538+12delinsAG (n.538+11_538+12delinsAG) c.*613+11_*613+12delinsAG (n.*613+11_*613+12delinsAG) c.694+11_694+12delinsAG (n.694+11_694+12delinsAG) | |
17 | g.4955309del | CA624856838 | ENO3 | c.667+12del (n.667+12del) c.538+12del (n.538+12del) c.*613+12del (n.*613+12del) c.694+12del (n.694+12del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4955309G>A | CA8316375 | ENO3 | c.667+12G>A (n.667+12G>A) c.538+12G>A (n.538+12G>A) c.*613+12G>A (n.*613+12G>A) c.694+12G>A (n.694+12G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4955309G= | CA2244628471 | ENO3 | c.667+12G= (n.667+12G=) c.538+12G= (n.538+12G=) c.*613+12G= (n.*613+12G=) c.694+12G= (n.694+12G=) | |
17 | g.4955310C>A | CA2635584834 | ENO3 | c.667+13C>A (n.667+13C>A) c.538+13C>A (n.538+13C>A) c.*613+13C>A (n.*613+13C>A) c.694+13C>A (n.694+13C>A) | gnomAD v4 |
17 | g.4955310C= | CA2244628472 | ENO3 | c.667+13C= (n.667+13C=) c.538+13C= (n.538+13C=) c.*613+13C= (n.*613+13C=) c.694+13C= (n.694+13C=) | |
17 | g.4955310C>T | CA980979725 | ENO3 | c.667+13C>T (n.667+13C>T) c.538+13C>T (n.538+13C>T) c.*613+13C>T (n.*613+13C>T) c.694+13C>T (n.694+13C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4955311A= | CA2244628475 | ENO3 | c.667+14A= (n.667+14A=) c.538+14A= (n.538+14A=) c.*613+14A= (n.*613+14A=) c.694+14A= (n.694+14A=) | |
17 | g.4955311A>C | CA624856839 | ENO3 | c.667+14A>C (n.667+14A>C) c.538+14A>C (n.538+14A>C) c.*613+14A>C (n.*613+14A>C) c.694+14A>C (n.694+14A>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4955311A>G | CA2808297895 | ENO3 | c.667+14A>G (n.667+14A>G) c.538+14A>G (n.538+14A>G) c.*613+14A>G (n.*613+14A>G) c.694+14A>G (n.694+14A>G) | |
17 | g.4955311_4955312delinsAC | CA2244628477 | ENO3 | c.667+14_667+15delinsAC (n.667+14_667+15delinsAC) c.538+14_538+15delinsAC (n.538+14_538+15delinsAC) c.*613+14_*613+15delinsAC (n.*613+14_*613+15delinsAC) c.694+14_694+15delinsAC (n.694+14_694+15delinsAC) | |
17 | g.4955312C>A | CA624856840 | ENO3 | c.667+15C>A (n.667+15C>A) c.538+15C>A (n.538+15C>A) c.*613+15C>A (n.*613+15C>A) c.694+15C>A (n.694+15C>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4955312C= | CA2244628478 | ENO3 | c.667+15C= (n.667+15C=) c.538+15C= (n.538+15C=) c.*613+15C= (n.*613+15C=) c.694+15C= (n.694+15C=) | |
17 | g.4955314del | CA287175991 | ENO3 | c.667+17del (n.667+17del) c.538+17del (n.538+17del) c.*613+17del (n.*613+17del) c.694+17del (n.694+17del) | dbSNP |
17 | g.4955312_4955319delinsCCCTGGGG | CA2244628479 | ENO3 | c.667+15_667+22delinsCCCTGGGG (n.667+15_667+22delinsCCCTGGGG) c.538+15_538+22delinsCCCTGGGG (n.538+15_538+22delinsCCCTGGGG) c.*613+15_*613+22delinsCCCTGGGG (n.*613+15_*613+22delinsCCCTGGGG) c.694+15_694+22delinsCCCTGGGG (n.694+15_694+22delinsCCCTGGGG) | |
17 | g.4955313C>A | CA2244628483 | ENO3 | c.667+16C>A (n.667+16C>A) c.538+16C>A (n.538+16C>A) c.*613+16C>A (n.*613+16C>A) c.694+16C>A (n.694+16C>A) | dbSNP |
17 | g.4955313C= | CA2244628482 | ENO3 | c.667+16C= (n.667+16C=) c.538+16C= (n.538+16C=) c.*613+16C= (n.*613+16C=) c.694+16C= (n.694+16C=) | |
17 | g.4955313_4955319del | CA980979728 | ENO3 | c.667+16_667+22del (n.667+16_667+22del) c.538+16_538+22del (n.538+16_538+22del) c.*613+16_*613+22del (n.*613+16_*613+22del) c.694+16_694+22del (n.694+16_694+22del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4955314C>A | CA2576136664 | ENO3 | c.667+17C>A (n.667+17C>A) c.538+17C>A (n.538+17C>A) c.*613+17C>A (n.*613+17C>A) c.694+17C>A (n.694+17C>A) | |
17 | g.4955314C= | CA2244628484 | ENO3 | c.667+17C= (n.667+17C=) c.538+17C= (n.538+17C=) c.*613+17C= (n.*613+17C=) c.694+17C= (n.694+17C=) | |
17 | g.4955314C>G | CA772695601 | ENO3 | c.667+17C>G (n.667+17C>G) c.538+17C>G (n.538+17C>G) c.*613+17C>G (n.*613+17C>G) c.694+17C>G (n.694+17C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.4955315T>A | CA2576136665 | ENO3 | c.667+18T>A (n.667+18T>A) c.538+18T>A (n.538+18T>A) c.*613+18T>A (n.*613+18T>A) c.694+18T>A (n.694+18T>A) | gnomAD v4 |
17 | g.4955315T= | CA2244628486 | ENO3 | c.667+18T= (n.667+18T=) c.538+18T= (n.538+18T=) c.*613+18T= (n.*613+18T=) c.694+18T= (n.694+18T=) | |
17 | g.4955316G>C | CA2635584838 | ENO3 | c.667+19G>C (n.667+19G>C) c.538+19G>C (n.538+19G>C) c.*613+19G>C (n.*613+19G>C) c.694+19G>C (n.694+19G>C) | gnomAD v4 |
17 | g.4955321dup | CA8316376 | ENO3 | c.667+24dup (n.667+24dup) c.538+24dup (n.538+24dup) c.*613+24dup (n.*613+24dup) c.694+24dup (n.694+24dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4955321del | CA2576136666 | ENO3 | c.667+24del (n.667+24del) c.538+24del (n.538+24del) c.*613+24del (n.*613+24del) c.694+24del (n.694+24del) | gnomAD v4 |
17 | g.4955317G>A | CA980979729 | ENO3 | c.667+20G>A (n.667+20G>A) c.538+20G>A (n.538+20G>A) c.*613+20G>A (n.*613+20G>A) c.694+20G>A (n.694+20G>A) | |
17 | g.4955317G= | CA2244628488 | ENO3 | c.667+20G= (n.667+20G=) c.538+20G= (n.538+20G=) c.*613+20G= (n.*613+20G=) c.694+20G= (n.694+20G=) | |
17 | g.4955317G>T | CA2244628487 | ENO3 | c.667+20G>T (n.667+20G>T) c.538+20G>T (n.538+20G>T) c.*613+20G>T (n.*613+20G>T) c.694+20G>T (n.694+20G>T) | dbSNP gnomAD v4 |
17 | g.4955318G>A | CA2635584840 | ENO3 | c.667+21G>A (n.667+21G>A) c.538+21G>A (n.538+21G>A) c.*613+21G>A (n.*613+21G>A) c.694+21G>A (n.694+21G>A) | gnomAD v4 |
17 | g.4955318G>C | CA2576136668 | ENO3 | c.667+21G>C (n.667+21G>C) c.538+21G>C (n.538+21G>C) c.*613+21G>C (n.*613+21G>C) c.694+21G>C (n.694+21G>C) | gnomAD v4 |
17 | g.4955319G>A | CA287176003 | ENO3 | c.667+22G>A (n.667+22G>A) c.538+22G>A (n.538+22G>A) c.*613+22G>A (n.*613+22G>A) c.694+22G>A (n.694+22G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4955319G>C | CA2635584844 | ENO3 | c.667+22G>C (n.667+22G>C) c.538+22G>C (n.538+22G>C) c.*613+22G>C (n.*613+22G>C) c.694+22G>C (n.694+22G>C) | gnomAD v4 |
17 | g.4955319G= | CA2244628489 | ENO3 | c.667+22G= (n.667+22G=) c.538+22G= (n.538+22G=) c.*613+22G= (n.*613+22G=) c.694+22G= (n.694+22G=) | |
17 | g.4955320G>A | CA624856841 | ENO3 | c.667+23G>A (n.667+23G>A) c.538+23G>A (n.538+23G>A) c.*613+23G>A (n.*613+23G>A) c.694+23G>A (n.694+23G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4955320G= | CA2244628491 | ENO3 | c.667+23G= (n.667+23G=) c.538+23G= (n.538+23G=) c.*613+23G= (n.*613+23G=) c.694+23G= (n.694+23G=) | |
17 | g.4955321G>A | CA287176006 | ENO3 | c.667+24G>A (n.667+24G>A) c.538+24G>A (n.538+24G>A) c.*613+24G>A (n.*613+24G>A) c.694+24G>A (n.694+24G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4955321G= | CA2244628492 | ENO3 | c.667+24G= (n.667+24G=) c.538+24G= (n.538+24G=) c.*613+24G= (n.*613+24G=) c.694+24G= (n.694+24G=) | |
17 | g.4955321G>T | CA2635584850 | ENO3 | c.667+24G>T (n.667+24G>T) c.538+24G>T (n.538+24G>T) c.*613+24G>T (n.*613+24G>T) c.694+24G>T (n.694+24G>T) | gnomAD v4 |
17 | g.4955322del | CA2576136671 | ENO3 | c.667+25del (n.667+25del) c.538+25del (n.538+25del) c.*613+25del (n.*613+25del) c.694+25del (n.694+25del) | |
17 | g.4955322C>A | CA2528091259 | ENO3 | c.667+25C>A (n.667+25C>A) c.538+25C>A (n.538+25C>A) c.*613+25C>A (n.*613+25C>A) c.694+25C>A (n.694+25C>A) | |
17 | g.4955322C>T | CA2733118397 | ENO3 | c.667+25C>T (n.667+25C>T) c.538+25C>T (n.538+25C>T) c.*613+25C>T (n.*613+25C>T) c.694+25C>T (n.694+25C>T) | dbSNP |
17 | g.4955322_4955323delinsCA | CA2244628493 | ENO3 | c.667+25_667+26delinsCA (n.667+25_667+26delinsCA) c.538+25_538+26delinsCA (n.538+25_538+26delinsCA) c.*613+25_*613+26delinsCA (n.*613+25_*613+26delinsCA) c.694+25_694+26delinsCA (n.694+25_694+26delinsCA) | |
17 | g.4955323del | CA624856842 | ENO3 | c.667+26del (n.667+26del) c.538+26del (n.538+26del) c.*613+26del (n.*613+26del) c.694+26del (n.694+26del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4955323A= | CA2244628497 | ENO3 | c.667+26A= (n.667+26A=) c.538+26A= (n.538+26A=) c.*613+26A= (n.*613+26A=) c.694+26A= (n.694+26A=) | |
17 | g.4955323A>C | CA2244628498 | ENO3 | c.667+26A>C (n.667+26A>C) c.538+26A>C (n.538+26A>C) c.*613+26A>C (n.*613+26A>C) c.694+26A>C (n.694+26A>C) | dbSNP |
17 | g.4955324G>A | CA2635584855 | ENO3 | c.667+27G>A (n.667+27G>A) c.538+27G>A (n.538+27G>A) c.*613+27G>A (n.*613+27G>A) c.694+27G>A (n.694+27G>A) | gnomAD v4 |
17 | g.4955324G= | CA2244628499 | ENO3 | c.667+27G= (n.667+27G=) c.538+27G= (n.538+27G=) c.*613+27G= (n.*613+27G=) c.694+27G= (n.694+27G=) | |
17 | g.4955324G>T | CA8316377 | ENO3 | c.667+27G>T (n.667+27G>T) c.538+27G>T (n.538+27G>T) c.*613+27G>T (n.*613+27G>T) c.694+27G>T (n.694+27G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4955325A= | CA2244628500 | ENO3 | c.667+28A= (n.667+28A=) c.538+28A= (n.538+28A=) c.*613+28A= (n.*613+28A=) c.694+28A= (n.694+28A=) | |
17 | g.4955326C= | CA2244628502 | ENO3 | c.667+29C= (n.667+29C=) c.538+29C= (n.538+29C=) c.*613+29C= (n.*613+29C=) c.694+29C= (n.694+29C=) | |
17 | g.4955326C>G | CA2635584859 | ENO3 | c.667+29C>G (n.667+29C>G) c.538+29C>G (n.538+29C>G) c.*613+29C>G (n.*613+29C>G) c.694+29C>G (n.694+29C>G) | gnomAD v4 |
17 | g.4955326C>T | CA8316378 | ENO3 | c.667+29C>T (n.667+29C>T) c.538+29C>T (n.538+29C>T) c.*613+29C>T (n.*613+29C>T) c.694+29C>T (n.694+29C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4955330dup | CA624856843 | ENO3 | c.667+33dup (n.667+33dup) c.538+33dup (n.538+33dup) c.*613+33dup (n.*613+33dup) c.694+33dup (n.694+33dup) | dbSNP gnomAD v2 gnomAD v4 |