Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
17 | g.4955327C>T | CA2635584860 | ENO3 | c.667+30C>T (n.667+30C>T) c.538+30C>T (n.538+30C>T) c.*613+30C>T (n.*613+30C>T) c.694+30C>T (n.694+30C>T) | gnomAD v4 |
17 | g.4955328C>A | CA980979741 | ENO3 | c.667+31C>A (n.667+31C>A) c.538+31C>A (n.538+31C>A) c.*613+31C>A (n.*613+31C>A) c.694+31C>A (n.694+31C>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4955328C= | CA2244628503 | ENO3 | c.667+31C= (n.667+31C=) c.538+31C= (n.538+31C=) c.*613+31C= (n.*613+31C=) c.694+31C= (n.694+31C=) | |
17 | g.4955328C>G | CA624856844 | ENO3 | c.667+31C>G (n.667+31C>G) c.538+31C>G (n.538+31C>G) c.*613+31C>G (n.*613+31C>G) c.694+31C>G (n.694+31C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4955330C= | CA2244628506 | ENO3 | c.667+33C= (n.667+33C=) c.538+33C= (n.538+33C=) c.*613+33C= (n.*613+33C=) c.694+33C= (n.694+33C=) | |
17 | g.4955330C>T | CA8316379 | ENO3 | c.667+33C>T (n.667+33C>T) c.538+33C>T (n.538+33C>T) c.*613+33C>T (n.*613+33C>T) c.694+33C>T (n.694+33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4955331T>G | CA624856845 | ENO3 | c.667+34T>G (n.667+34T>G) c.538+34T>G (n.538+34T>G) c.*613+34T>G (n.*613+34T>G) c.694+34T>G (n.694+34T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4955331T= | CA2244628508 | ENO3 | c.667+34T= (n.667+34T=) c.538+34T= (n.538+34T=) c.*613+34T= (n.*613+34T=) c.694+34T= (n.694+34T=) | |
17 | g.4955332G>A | CA8316380 | ENO3 | c.667+35G>A (n.667+35G>A) c.538+35G>A (n.538+35G>A) c.*613+35G>A (n.*613+35G>A) c.694+35G>A (n.694+35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4955332G= | CA2244628509 | ENO3 | c.667+35G= (n.667+35G=) c.538+35G= (n.538+35G=) c.*613+35G= (n.*613+35G=) c.694+35G= (n.694+35G=) | |
17 | g.4955332G>T | CA2635584867 | ENO3 | c.667+35G>T (n.667+35G>T) c.538+35G>T (n.538+35G>T) c.*613+35G>T (n.*613+35G>T) c.694+35G>T (n.694+35G>T) | gnomAD v4 |
17 | g.4955333G>A | CA2808297896 | ENO3 | c.667+36G>A (n.667+36G>A) c.538+36G>A (n.538+36G>A) c.*613+36G>A (n.*613+36G>A) c.694+36G>A (n.694+36G>A) | |
17 | g.4955334A>G | CA2576136672 | ENO3 | c.667+37A>G (n.667+37A>G) c.538+37A>G (n.538+37A>G) c.*613+37A>G (n.*613+37A>G) c.694+37A>G (n.694+37A>G) | |
17 | g.4955338C>A | CA624856846 | ENO3 | c.667+41C>A (n.667+41C>A) c.538+41C>A (n.538+41C>A) c.*613+41C>A (n.*613+41C>A) c.694+41C>A (n.694+41C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4955338C= | CA2244628510 | ENO3 | c.667+41C= (n.667+41C=) c.538+41C= (n.538+41C=) c.*613+41C= (n.*613+41C=) c.694+41C= (n.694+41C=) | |
17 | g.4955338C>G | CA2635584871 | ENO3 | c.667+41C>G (n.667+41C>G) c.538+41C>G (n.538+41C>G) c.*613+41C>G (n.*613+41C>G) c.694+41C>G (n.694+41C>G) | gnomAD v4 |
17 | g.4955339C>A | CA2576136673 | ENO3 | c.667+42C>A (n.667+42C>A) c.538+42C>A (n.538+42C>A) c.*613+42C>A (n.*613+42C>A) c.694+42C>A (n.694+42C>A) | |
17 | g.4955339C>T | CA2635584874 | ENO3 | c.667+42C>T (n.667+42C>T) c.538+42C>T (n.538+42C>T) c.*613+42C>T (n.*613+42C>T) c.694+42C>T (n.694+42C>T) | gnomAD v4 |
17 | g.4955341C= | CA2244628513 | ENO3 | c.667+44C= (n.667+44C=) c.538+44C= (n.538+44C=) c.*613+44C= (n.*613+44C=) c.694+44C= (n.694+44C=) | |
17 | g.4955341C>T | CA287176022 | ENO3 | c.667+44C>T (n.667+44C>T) c.538+44C>T (n.538+44C>T) c.*613+44C>T (n.*613+44C>T) c.694+44C>T (n.694+44C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4955342A= | CA2244628514 | ENO3 | c.667+45A= (n.667+45A=) c.538+45A= (n.538+45A=) c.*613+45A= (n.*613+45A=) c.694+45A= (n.694+45A=) | |
17 | g.4955342A>G | CA2244628515 | ENO3 | c.667+45A>G (n.667+45A>G) c.538+45A>G (n.538+45A>G) c.*613+45A>G (n.*613+45A>G) c.694+45A>G (n.694+45A>G) | dbSNP |
17 | g.4955344G>A | CA2635584877 | ENO3 | c.667+47G>A (n.667+47G>A) c.538+47G>A (n.538+47G>A) c.*613+47G>A (n.*613+47G>A) c.694+47G>A (n.694+47G>A) | gnomAD v4 |
17 | g.4955344G>C | CA2635584880 | ENO3 | c.667+47G>C (n.667+47G>C) c.538+47G>C (n.538+47G>C) c.*613+47G>C (n.*613+47G>C) c.694+47G>C (n.694+47G>C) | gnomAD v4 |
17 | g.4955344G>T | CA2576136675 | ENO3 | c.667+47G>T (n.667+47G>T) c.538+47G>T (n.538+47G>T) c.*613+47G>T (n.*613+47G>T) c.694+47G>T (n.694+47G>T) | gnomAD v4 |
17 | g.4955345G>A | CA8316381 | ENO3 | c.667+48G>A (n.667+48G>A) c.538+48G>A (n.538+48G>A) c.*613+48G>A (n.*613+48G>A) c.694+48G>A (n.694+48G>A) | dbSNP ExAC gnomAD v2 |
17 | g.4955345G= | CA2244628516 | ENO3 | c.667+48G= (n.667+48G=) c.538+48G= (n.538+48G=) c.*613+48G= (n.*613+48G=) c.694+48G= (n.694+48G=) | |
17 | g.4955346G>A | CA2635584881 | ENO3 | c.667+49G>A (n.667+49G>A) c.538+49G>A (n.538+49G>A) c.*613+49G>A (n.*613+49G>A) c.694+49G>A (n.694+49G>A) | gnomAD v4 |
17 | g.4955346G>C | CA8316382 | ENO3 | c.667+49G>C (n.667+49G>C) c.538+49G>C (n.538+49G>C) c.*613+49G>C (n.*613+49G>C) c.694+49G>C (n.694+49G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4955346G= | CA2244628517 | ENO3 | c.667+49G= (n.667+49G=) c.538+49G= (n.538+49G=) c.*613+49G= (n.*613+49G=) c.694+49G= (n.694+49G=) |