| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.4955157_4955174dup | CA2635584589 | ENO3 | c.527_544dup (p.Ala181_Met182insSerSerPheLysGluAla) c.398_415dup (p.Ala138_Met139insSerSerPheLysGluAla) c.*473_*490dup (n.*473_*490dup) c.554_571dup (p.Ala190_Met191insSerSerPheLysGluAla) | gnomAD v4 |
| 17 | g.4955172C>A | CA397290003 | ENO3 | c.542C>A (p.Ala181Asp) c.413C>A (p.Ala138Asp) c.*488C>A (n.*488C>A) c.569C>A (p.Ala190Asp) | gnomAD v4 |
| 17 | g.4955172C= | CA2244628244 | ENO3 | c.542C= (p.Ala181=) c.413C= (p.Ala138=) c.*488C= (n.*488C=) c.569C= (p.Ala190=) | |
| 17 | g.4955172C>G | CA397290006 | ENO3 | c.542C>G (p.Ala181Gly) c.413C>G (p.Ala138Gly) c.*488C>G (n.*488C>G) c.569C>G (p.Ala190Gly) | |
| 17 | g.4955172C>T | CA397290008 | ENO3 | c.542C>T (p.Ala181Val) c.413C>T (p.Ala138Val) c.*488C>T (n.*488C>T) c.569C>T (p.Ala190Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4955173C>A | CA497679360 | ENO3 | c.543C>A (p.Ala181=) c.414C>A (p.Ala138=) c.*489C>A (n.*489C>A) c.570C>A (p.Ala190=) | |
| 17 | g.4955173C= | CA2244628248 | ENO3 | c.543C= (p.Ala181=) c.414C= (p.Ala138=) c.*489C= (n.*489C=) c.570C= (p.Ala190=) | |
| 17 | g.4955173C>G | CA497679361 | ENO3 | c.543C>G (p.Ala181=) c.414C>G (p.Ala138=) c.*489C>G (n.*489C>G) c.570C>G (p.Ala190=) | |
| 17 | g.4955173C>T | CA497679362 | ENO3 | c.543C>T (p.Ala181=) c.414C>T (p.Ala138=) c.*489C>T (n.*489C>T) c.570C>T (p.Ala190=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4955174A= | CA2244628252 | ENO3 | c.544A= (p.Met182=) c.415A= (p.Met139=) c.*490A= (n.*490A=) c.571A= (p.Met191=) | |
| 17 | g.4955174A>C | CA397290011 | ENO3 | c.544A>C (p.Met182Leu) c.415A>C (p.Met139Leu) c.*490A>C (n.*490A>C) c.571A>C (p.Met191Leu) | dbSNP gnomAD v2 |
| 17 | g.4955174A>G | CA397290014 | ENO3 | c.544A>G (p.Met182Val) c.415A>G (p.Met139Val) c.*490A>G (n.*490A>G) c.571A>G (p.Met191Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4955174A>T | CA397290016 | ENO3 | c.544A>T (p.Met182Leu) c.415A>T (p.Met139Leu) c.*490A>T (n.*490A>T) c.571A>T (p.Met191Leu) | |
| 17 | g.4955175T>A | CA397290017 | ENO3 | c.545T>A (p.Met182Lys) c.416T>A (p.Met139Lys) c.*491T>A (n.*491T>A) c.572T>A (p.Met191Lys) | |
| 17 | g.4955175T>C | CA8316343 | ENO3 | c.545T>C (p.Met182Thr) c.416T>C (p.Met139Thr) c.*491T>C (n.*491T>C) c.572T>C (p.Met191Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4955175T>G | CA8316342 | ENO3 | c.545T>G (p.Met182Arg) c.416T>G (p.Met139Arg) c.*491T>G (n.*491T>G) c.572T>G (p.Met191Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4955175T= | CA2244628256 | ENO3 | c.545T= (p.Met182=) c.416T= (p.Met139=) c.*491T= (n.*491T=) c.572T= (p.Met191=) | |
| 17 | g.4955176G>A | CA397290023 | ENO3 | c.546G>A (p.Met182Ile) c.417G>A (p.Met139Ile) c.*492G>A (n.*492G>A) c.573G>A (p.Met191Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955176G>C | CA397290025 | ENO3 | c.546G>C (p.Met182Ile) c.417G>C (p.Met139Ile) c.*492G>C (n.*492G>C) c.573G>C (p.Met191Ile) | dbSNP gnomAD v2 |
| 17 | g.4955176G= | CA2244628261 | ENO3 | c.546G= (p.Met182=) c.417G= (p.Met139=) c.*492G= (n.*492G=) c.573G= (p.Met191=) | |
| 17 | g.4955176G>T | CA397290027 | ENO3 | c.546G>T (p.Met182Ile) c.417G>T (p.Met139Ile) c.*492G>T (n.*492G>T) c.573G>T (p.Met191Ile) | |
| 17 | g.4955177C>A | CA397290033 | ENO3 | c.547C>A (p.Arg183Ser) c.418C>A (p.Arg140Ser) c.*493C>A (n.*493C>A) c.574C>A (p.Arg192Ser) | |
| 17 | g.4955177C= | CA2244628264 | ENO3 | c.547C= (p.Arg183=) c.418C= (p.Arg140=) c.*493C= (n.*493C=) c.574C= (p.Arg192=) | |
| 17 | g.4955177C>G | CA397290031 | ENO3 | c.547C>G (p.Arg183Gly) c.418C>G (p.Arg140Gly) c.*493C>G (n.*493C>G) c.574C>G (p.Arg192Gly) | |
| 17 | g.4955177C>T | CA8316344 | ENO3 | c.547C>T (p.Arg183Cys) c.418C>T (p.Arg140Cys) c.*493C>T (n.*493C>T) c.574C>T (p.Arg192Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4955178G>A | CA8316345 | ENO3 | c.548G>A (p.Arg183His) c.419G>A (p.Arg140His) c.*494G>A (n.*494G>A) c.575G>A (p.Arg192His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4955178G>C | CA397290037 | ENO3 | c.548G>C (p.Arg183Pro) c.419G>C (p.Arg140Pro) c.*494G>C (n.*494G>C) c.575G>C (p.Arg192Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955178G= | CA2244628268 | ENO3 | c.548G= (p.Arg183=) c.419G= (p.Arg140=) c.*494G= (n.*494G=) c.575G= (p.Arg192=) | |
| 17 | g.4955178G>T | CA397290039 | ENO3 | c.548G>T (p.Arg183Leu) c.419G>T (p.Arg140Leu) c.*494G>T (n.*494G>T) c.575G>T (p.Arg192Leu) | |
| 17 | g.4955179C>A | CA497679366 | ENO3 | c.549C>A (p.Arg183=) c.420C>A (p.Arg140=) c.*495C>A (n.*495C>A) c.576C>A (p.Arg192=) | |
| 17 | g.4955179C>G | CA497679368 | ENO3 | c.549C>G (p.Arg183=) c.420C>G (p.Arg140=) c.*495C>G (n.*495C>G) c.576C>G (p.Arg192=) | |
| 17 | g.4955179C>T | CA497679367 | ENO3 | c.549C>T (p.Arg183=) c.420C>T (p.Arg140=) c.*495C>T (n.*495C>T) c.576C>T (p.Arg192=) | |
| 17 | g.4955179_4955181delinsCAT | CA2244628272 | ENO3 | c.549_551delinsCAT (p.Arg183=) c.420_422delinsCAT (p.Arg140=) c.*495_*497delinsCAT (n.*495_*497delinsCAT) c.576_578delinsCAT (p.Arg192=) | |
| 17 | g.4955180A= | CA2244628276 | ENO3 | c.550A= (p.Ile184=) c.421A= (p.Ile141=) c.*496A= (n.*496A=) c.577A= (p.Ile193=) | |
| 17 | g.4955180A>C | CA397290042 | ENO3 | c.550A>C (p.Ile184Leu) c.421A>C (p.Ile141Leu) c.*496A>C (n.*496A>C) c.577A>C (p.Ile193Leu) | |
| 17 | g.4955180A>G | CA8316346 | ENO3 | c.550A>G (p.Ile184Val) c.421A>G (p.Ile141Val) c.*496A>G (n.*496A>G) c.577A>G (p.Ile193Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955180A>T | CA397290046 | ENO3 | c.550A>T (p.Ile184Phe) c.421A>T (p.Ile141Phe) c.*496A>T (n.*496A>T) c.577A>T (p.Ile193Phe) | |
| 17 | g.4955180_4955181del | CA624856699 | ENO3 | c.550_551del (p.Ile184TrpfsTer25) c.421_422del (p.Ile141TrpfsTer25) c.550_551del (p.Ile184TrpfsTer?) c.*496_*497del (n.*496_*497del) c.577_578del (p.Ile193TrpfsTer25) | dbSNP gnomAD v2 |
| 17 | g.4955181T>A | CA397290050 | ENO3 | c.551T>A (p.Ile184Asn) c.422T>A (p.Ile141Asn) c.*497T>A (n.*497T>A) c.578T>A (p.Ile193Asn) | |
| 17 | g.4955181T>C | CA397290052 | ENO3 | c.551T>C (p.Ile184Thr) c.422T>C (p.Ile141Thr) c.*497T>C (n.*497T>C) c.578T>C (p.Ile193Thr) | |
| 17 | g.4955181T>G | CA397290054 | ENO3 | c.551T>G (p.Ile184Ser) c.422T>G (p.Ile141Ser) c.*497T>G (n.*497T>G) c.578T>G (p.Ile193Ser) | |
| 17 | g.4955182T>A | CA497679373 | ENO3 | c.552T>A (p.Ile184=) c.423T>A (p.Ile141=) c.*498T>A (n.*498T>A) c.579T>A (p.Ile193=) | |
| 17 | g.4955182T>C | CA497679374 | ENO3 | c.552T>C (p.Ile184=) c.423T>C (p.Ile141=) c.*498T>C (n.*498T>C) c.579T>C (p.Ile193=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4955182T>G | CA397290057 | ENO3 | c.552T>G (p.Ile184Met) c.423T>G (p.Ile141Met) c.*498T>G (n.*498T>G) c.579T>G (p.Ile193Met) | gnomAD v4 |
| 17 | g.4955182T= | CA2244628281 | ENO3 | c.552T= (p.Ile184=) c.423T= (p.Ile141=) c.*498T= (n.*498T=) c.579T= (p.Ile193=) | |
| 17 | g.4955183G>A | CA397290061 | ENO3 | c.553G>A (p.Gly185Ser) c.424G>A (p.Gly142Ser) c.*499G>A (n.*499G>A) c.580G>A (p.Gly194Ser) | |
| 17 | g.4955183G>C | CA397290062 | ENO3 | c.553G>C (p.Gly185Arg) c.424G>C (p.Gly142Arg) c.*499G>C (n.*499G>C) c.580G>C (p.Gly194Arg) | |
| 17 | g.4955183G>T | CA397290064 | ENO3 | c.553G>T (p.Gly185Cys) c.424G>T (p.Gly142Cys) c.*499G>T (n.*499G>T) c.580G>T (p.Gly194Cys) | |
| 17 | g.4955183_4955184dup | CA624856702 | ENO3 | c.553_554dup (p.Glu187ProfsTer?) c.424_425dup (p.Glu144ProfsTer?) c.*499_*500dup (n.*499_*500dup) c.580_581dup (p.Glu196ProfsTer?) | dbSNP gnomAD v2 |
| 17 | g.4955184G>A | CA397290069 | ENO3 | c.554G>A (p.Gly185Asp) c.425G>A (p.Gly142Asp) c.*500G>A (n.*500G>A) c.581G>A (p.Gly194Asp) | |
| 17 | g.4955184G>C | CA397290066 | ENO3 | c.554G>C (p.Gly185Ala) c.425G>C (p.Gly142Ala) c.*500G>C (n.*500G>C) c.581G>C (p.Gly194Ala) | |
| 17 | g.4955184G= | CA2244628287 | ENO3 | c.554G= (p.Gly185=) c.425G= (p.Gly142=) c.*500G= (n.*500G=) c.581G= (p.Gly194=) | |
| 17 | g.4955184G>T | CA8316347 | ENO3 | c.554G>T (p.Gly185Val) c.425G>T (p.Gly142Val) c.*500G>T (n.*500G>T) c.581G>T (p.Gly194Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955185C>A | CA497679382 | ENO3 | c.555C>A (p.Gly185=) c.426C>A (p.Gly142=) c.*501C>A (n.*501C>A) c.582C>A (p.Gly194=) | |
| 17 | g.4955185C= | CA2244628297 | ENO3 | c.555C= (p.Gly185=) c.426C= (p.Gly142=) c.*501C= (n.*501C=) c.582C= (p.Gly194=) | |
| 17 | g.4955185C>G | CA497679383 | ENO3 | c.555C>G (p.Gly185=) c.426C>G (p.Gly142=) c.*501C>G (n.*501C>G) c.582C>G (p.Gly194=) | dbSNP gnomAD v4 |
| 17 | g.4955185C>T | CA8316348 | ENO3 | c.555C>T (p.Gly185=) c.426C>T (p.Gly142=) c.*501C>T (n.*501C>T) c.582C>T (p.Gly194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955186G>A | CA8316349 | ENO3 | c.556G>A (p.Ala186Thr) c.427G>A (p.Ala143Thr) c.*502G>A (n.*502G>A) c.583G>A (p.Ala195Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955186G>C | CA397290075 | ENO3 | c.556G>C (p.Ala186Pro) c.427G>C (p.Ala143Pro) c.*502G>C (n.*502G>C) c.583G>C (p.Ala195Pro) | |
| 17 | g.4955186G= | CA2244628299 | ENO3 | c.556G= (p.Ala186=) c.427G= (p.Ala143=) c.*502G= (n.*502G=) c.583G= (p.Ala195=) | |
| 17 | g.4955186G>T | CA397290076 | ENO3 | c.556G>T (p.Ala186Ser) c.427G>T (p.Ala143Ser) c.*502G>T (n.*502G>T) c.583G>T (p.Ala195Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955187C>A | CA397290080 | ENO3 | c.557C>A (p.Ala186Asp) c.428C>A (p.Ala143Asp) c.*503C>A (n.*503C>A) c.584C>A (p.Ala195Asp) | |
| 17 | g.4955187C= | CA2244628301 | ENO3 | c.557C= (p.Ala186=) c.428C= (p.Ala143=) c.*503C= (n.*503C=) c.584C= (p.Ala195=) | |
| 17 | g.4955187C>G | CA397290082 | ENO3 | c.557C>G (p.Ala186Gly) c.428C>G (p.Ala143Gly) c.*503C>G (n.*503C>G) c.584C>G (p.Ala195Gly) | |
| 17 | g.4955187C>T | CA397290084 | ENO3 | c.557C>T (p.Ala186Val) c.428C>T (p.Ala143Val) c.*503C>T (n.*503C>T) c.584C>T (p.Ala195Val) | dbSNP gnomAD v2 |
| 17 | g.4955188C>A | CA497679389 | ENO3 | c.558C>A (p.Ala186=) c.429C>A (p.Ala143=) c.*504C>A (n.*504C>A) c.585C>A (p.Ala195=) | |
| 17 | g.4955188C= | CA2244628304 | ENO3 | c.558C= (p.Ala186=) c.429C= (p.Ala143=) c.*504C= (n.*504C=) c.585C= (p.Ala195=) | |
| 17 | g.4955188C>G | CA497679388 | ENO3 | c.558C>G (p.Ala186=) c.429C>G (p.Ala143=) c.*504C>G (n.*504C>G) c.585C>G (p.Ala195=) | dbSNP |
| 17 | g.4955188C>T | CA8316350 | ENO3 | c.558C>T (p.Ala186=) c.429C>T (p.Ala143=) c.*504C>T (n.*504C>T) c.585C>T (p.Ala195=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955189G>A | CA8316351 | ENO3 | c.559G>A (p.Glu187Lys) c.430G>A (p.Glu144Lys) c.*505G>A (n.*505G>A) c.586G>A (p.Glu196Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955189G>C | CA397290091 | ENO3 | c.559G>C (p.Glu187Gln) c.430G>C (p.Glu144Gln) c.*505G>C (n.*505G>C) c.586G>C (p.Glu196Gln) | |
| 17 | g.4955189G= | CA2244628307 | ENO3 | c.559G= (p.Glu187=) c.430G= (p.Glu144=) c.*505G= (n.*505G=) c.586G= (p.Glu196=) | |
| 17 | g.4955189G>T | CA397290094 | ENO3 | c.559G>T (p.Glu187Ter) c.430G>T (p.Glu144Ter) c.*505G>T (n.*505G>T) c.586G>T (p.Glu196Ter) | |
| 17 | g.4955190A>C | CA397290097 | ENO3 | c.560A>C (p.Glu187Ala) c.431A>C (p.Glu144Ala) c.*506A>C (n.*506A>C) c.587A>C (p.Glu196Ala) | |
| 17 | g.4955190A>G | CA397290101 | ENO3 | c.560A>G (p.Glu187Gly) c.431A>G (p.Glu144Gly) c.*506A>G (n.*506A>G) c.587A>G (p.Glu196Gly) | |
| 17 | g.4955190A>T | CA397290099 | ENO3 | c.560A>T (p.Glu187Val) c.431A>T (p.Glu144Val) c.*506A>T (n.*506A>T) c.587A>T (p.Glu196Val) | |
| 17 | g.4955191G>A | CA497679393 | ENO3 | c.561G>A (p.Glu187=) c.432G>A (p.Glu144=) c.*507G>A (n.*507G>A) c.588G>A (p.Glu196=) | |
| 17 | g.4955191G>C | CA397290104 | ENO3 | c.561G>C (p.Glu187Asp) c.432G>C (p.Glu144Asp) c.*507G>C (n.*507G>C) c.588G>C (p.Glu196Asp) | |
| 17 | g.4955191G>T | CA397290106 | ENO3 | c.561G>T (p.Glu187Asp) c.432G>T (p.Glu144Asp) c.*507G>T (n.*507G>T) c.588G>T (p.Glu196Asp) | gnomAD v4 |
| 17 | g.4955192G>A | CA397290109 | ENO3 | c.562G>A (p.Val188Ile) c.433G>A (p.Val145Ile) c.*508G>A (n.*508G>A) c.589G>A (p.Val197Ile) | |
| 17 | g.4955192G>C | CA397290114 | ENO3 | c.562G>C (p.Val188Leu) c.433G>C (p.Val145Leu) c.*508G>C (n.*508G>C) c.589G>C (p.Val197Leu) | |
| 17 | g.4955192G= | CA2244628312 | ENO3 | c.562G= (p.Val188=) c.433G= (p.Val145=) c.*508G= (n.*508G=) c.589G= (p.Val197=) | |
| 17 | g.4955192G>T | CA397290111 | ENO3 | c.562G>T (p.Val188Phe) c.433G>T (p.Val145Phe) c.*508G>T (n.*508G>T) c.589G>T (p.Val197Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955193T>A | CA397290116 | ENO3 | c.563T>A (p.Val188Asp) c.434T>A (p.Val145Asp) c.*509T>A (n.*509T>A) c.590T>A (p.Val197Asp) | |
| 17 | g.4955193T>C | CA8316352 | ENO3 | c.563T>C (p.Val188Ala) c.434T>C (p.Val145Ala) c.*509T>C (n.*509T>C) c.590T>C (p.Val197Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4955193T>G | CA397290119 | ENO3 | c.563T>G (p.Val188Gly) c.434T>G (p.Val145Gly) c.*509T>G (n.*509T>G) c.590T>G (p.Val197Gly) | |
| 17 | g.4955193T= | CA2244628314 | ENO3 | c.563T= (p.Val188=) c.434T= (p.Val145=) c.*509T= (n.*509T=) c.590T= (p.Val197=) | |
| 17 | g.4955194C>A | CA497679397 | ENO3 | c.564C>A (p.Val188=) c.435C>A (p.Val145=) c.*510C>A (n.*510C>A) c.591C>A (p.Val197=) | |
| 17 | g.4955194C= | CA2244628317 | ENO3 | c.564C= (p.Val188=) c.435C= (p.Val145=) c.*510C= (n.*510C=) c.591C= (p.Val197=) | |
| 17 | g.4955194C>G | CA497679398 | ENO3 | c.564C>G (p.Val188=) c.435C>G (p.Val145=) c.*510C>G (n.*510C>G) c.591C>G (p.Val197=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4955194C>T | CA497679399 | ENO3 | c.564C>T (p.Val188=) c.435C>T (p.Val145=) c.*510C>T (n.*510C>T) c.591C>T (p.Val197=) | |
| 17 | g.4955195_4955197del | CA2635584700 | ENO3 | c.565_567del (p.Tyr189del) c.436_438del (p.Tyr146del) c.*511_*513del (n.*511_*513del) c.592_594del (p.Tyr198del) | gnomAD v4 |
| 17 | g.4955195T>A | CA397290122 | ENO3 | c.565T>A (p.Tyr189Asn) c.436T>A (p.Tyr146Asn) c.*511T>A (n.*511T>A) c.592T>A (p.Tyr198Asn) | |
| 17 | g.4955195T>C | CA397290124 | ENO3 | c.565T>C (p.Tyr189His) c.436T>C (p.Tyr146His) c.*511T>C (n.*511T>C) c.592T>C (p.Tyr198His) | gnomAD v4 |
| 17 | g.4955195T>G | CA397290126 | ENO3 | c.565T>G (p.Tyr189Asp) c.436T>G (p.Tyr146Asp) c.*511T>G (n.*511T>G) c.592T>G (p.Tyr198Asp) | |
| 17 | g.4955196A= | CA2244628320 | ENO3 | c.566A= (p.Tyr189=) c.437A= (p.Tyr146=) c.*512A= (n.*512A=) c.593A= (p.Tyr198=) | |
| 17 | g.4955196A>C | CA397290129 | ENO3 | c.566A>C (p.Tyr189Ser) c.437A>C (p.Tyr146Ser) c.*512A>C (n.*512A>C) c.593A>C (p.Tyr198Ser) | |
| 17 | g.4955196A>G | CA8316353 | ENO3 | c.566A>G (p.Tyr189Cys) c.437A>G (p.Tyr146Cys) c.*512A>G (n.*512A>G) c.593A>G (p.Tyr198Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955196A>T | CA397290132 | ENO3 | c.566A>T (p.Tyr189Phe) c.437A>T (p.Tyr146Phe) c.*512A>T (n.*512A>T) c.593A>T (p.Tyr198Phe) | |
| 17 | g.4955197C>A | CA397290136 | ENO3 | c.567C>A (p.Tyr189Ter) c.438C>A (p.Tyr146Ter) c.*513C>A (n.*513C>A) c.594C>A (p.Tyr198Ter) | |
| 17 | g.4955197C= | CA2244628323 | ENO3 | c.567C= (p.Tyr189=) c.438C= (p.Tyr146=) c.*513C= (n.*513C=) c.594C= (p.Tyr198=) | |
| 17 | g.4955197C>G | CA397290138 | ENO3 | c.567C>G (p.Tyr189Ter) c.438C>G (p.Tyr146Ter) c.*513C>G (n.*513C>G) c.594C>G (p.Tyr198Ter) | |
| 17 | g.4955197C>T | CA8316354 | ENO3 | c.567C>T (p.Tyr189=) c.438C>T (p.Tyr146=) c.*513C>T (n.*513C>T) c.594C>T (p.Tyr198=) | dbSNP ExAC gnomAD v4 |
| 17 | g.4955198C>A | CA397290147 | ENO3 | c.568C>A (p.His190Asn) c.439C>A (p.His147Asn) c.*514C>A (n.*514C>A) c.595C>A (p.His199Asn) | |
| 17 | g.4955198C>G | CA397290143 | ENO3 | c.568C>G (p.His190Asp) c.439C>G (p.His147Asp) c.*514C>G (n.*514C>G) c.595C>G (p.His199Asp) | |
| 17 | g.4955198C>T | CA397290145 | ENO3 | c.568C>T (p.His190Tyr) c.439C>T (p.His147Tyr) c.*514C>T (n.*514C>T) c.595C>T (p.His199Tyr) | |
| 17 | g.4955199A>C | CA397290151 | ENO3 | c.569A>C (p.His190Pro) c.440A>C (p.His147Pro) c.*515A>C (n.*515A>C) c.596A>C (p.His199Pro) | |
| 17 | g.4955199A>G | CA397290153 | ENO3 | c.569A>G (p.His190Arg) c.440A>G (p.His147Arg) c.*515A>G (n.*515A>G) c.596A>G (p.His199Arg) | gnomAD v4 |
| 17 | g.4955199A>T | CA397290155 | ENO3 | c.569A>T (p.His190Leu) c.440A>T (p.His147Leu) c.*515A>T (n.*515A>T) c.596A>T (p.His199Leu) | |
| 17 | g.4955200C>A | CA397290158 | ENO3 | c.570C>A (p.His190Gln) c.441C>A (p.His147Gln) c.*516C>A (n.*516C>A) c.597C>A (p.His199Gln) | |
| 17 | g.4955200C= | CA2244628326 | ENO3 | c.570C= (p.His190=) c.441C= (p.His147=) c.*516C= (n.*516C=) c.597C= (p.His199=) | |
| 17 | g.4955200C>G | CA397290160 | ENO3 | c.570C>G (p.His190Gln) c.441C>G (p.His147Gln) c.*516C>G (n.*516C>G) c.597C>G (p.His199Gln) | |
| 17 | g.4955200C>T | CA287175906 | ENO3 | c.570C>T (p.His190=) c.441C>T (p.His147=) c.*516C>T (n.*516C>T) c.597C>T (p.His199=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4955201C>A | CA397290163 | ENO3 | c.571C>A (p.His191Asn) c.442C>A (p.His148Asn) c.*517C>A (n.*517C>A) c.598C>A (p.His200Asn) | dbSNP gnomAD v2 |
| 17 | g.4955201C= | CA2244628328 | ENO3 | c.571C= (p.His191=) c.442C= (p.His148=) c.*517C= (n.*517C=) c.598C= (p.His200=) | |
| 17 | g.4955201C>G | CA397290165 | ENO3 | c.571C>G (p.His191Asp) c.442C>G (p.His148Asp) c.*517C>G (n.*517C>G) c.598C>G (p.His200Asp) | |
| 17 | g.4955201C>T | CA397290168 | ENO3 | c.571C>T (p.His191Tyr) c.442C>T (p.His148Tyr) c.*517C>T (n.*517C>T) c.598C>T (p.His200Tyr) | |
| 17 | g.4955202A= | CA2244628332 | ENO3 | c.572A= (p.His191=) c.443A= (p.His148=) c.*518A= (n.*518A=) c.599A= (p.His200=) | |
| 17 | g.4955202A>C | CA397290171 | ENO3 | c.572A>C (p.His191Pro) c.443A>C (p.His148Pro) c.*518A>C (n.*518A>C) c.599A>C (p.His200Pro) | dbSNP gnomAD v2 |
| 17 | g.4955202A>G | CA397290173 | ENO3 | c.572A>G (p.His191Arg) c.443A>G (p.His148Arg) c.*518A>G (n.*518A>G) c.599A>G (p.His200Arg) | |
| 17 | g.4955202A>T | CA397290175 | ENO3 | c.572A>T (p.His191Leu) c.443A>T (p.His148Leu) c.*518A>T (n.*518A>T) c.599A>T (p.His200Leu) | |
| 17 | g.4955203C>A | CA397290179 | ENO3 | c.573C>A (p.His191Gln) c.444C>A (p.His148Gln) c.*519C>A (n.*519C>A) c.600C>A (p.His200Gln) | ClinVar |
| 17 | g.4955203C>G | CA397290181 | ENO3 | c.573C>G (p.His191Gln) c.444C>G (p.His148Gln) c.*519C>G (n.*519C>G) c.600C>G (p.His200Gln) | |
| 17 | g.4955203C>T | CA497679413 | ENO3 | c.573C>T (p.His191=) c.444C>T (p.His148=) c.*519C>T (n.*519C>T) c.600C>T (p.His200=) | |
| 17 | g.4955204C>A | CA397290184 | ENO3 | c.574C>A (p.Leu192Ile) c.445C>A (p.Leu149Ile) c.*520C>A (n.*520C>A) c.601C>A (p.Leu201Ile) | |
| 17 | g.4955204C= | CA2244628339 | ENO3 | c.574C= (p.Leu192=) c.445C= (p.Leu149=) c.*520C= (n.*520C=) c.601C= (p.Leu201=) | |
| 17 | g.4955204C>G | CA397290185 | ENO3 | c.574C>G (p.Leu192Val) c.445C>G (p.Leu149Val) c.*520C>G (n.*520C>G) c.601C>G (p.Leu201Val) | |
| 17 | g.4955204C>T | CA8316355 | ENO3 | c.574C>T (p.Leu192Phe) c.445C>T (p.Leu149Phe) c.*520C>T (n.*520C>T) c.601C>T (p.Leu201Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4955205T>A | CA397290189 | ENO3 | c.575T>A (p.Leu192His) c.446T>A (p.Leu149His) c.*521T>A (n.*521T>A) c.602T>A (p.Leu201His) | |
| 17 | g.4955205T>C | CA397290191 | ENO3 | c.575T>C (p.Leu192Pro) c.446T>C (p.Leu149Pro) c.*521T>C (n.*521T>C) c.602T>C (p.Leu201Pro) | gnomAD v4 |
| 17 | g.4955205T>G | CA397290193 | ENO3 | c.575T>G (p.Leu192Arg) c.446T>G (p.Leu149Arg) c.*521T>G (n.*521T>G) c.602T>G (p.Leu201Arg) | |
| 17 | g.4955206C>A | CA497679416 | ENO3 | c.576C>A (p.Leu192=) c.447C>A (p.Leu149=) c.*522C>A (n.*522C>A) c.603C>A (p.Leu201=) | gnomAD v4 |
| 17 | g.4955206C>G | CA497679418 | ENO3 | c.576C>G (p.Leu192=) c.447C>G (p.Leu149=) c.*522C>G (n.*522C>G) c.603C>G (p.Leu201=) | |
| 17 | g.4955206C>T | CA497679420 | ENO3 | c.576C>T (p.Leu192=) c.447C>T (p.Leu149=) c.*522C>T (n.*522C>T) c.603C>T (p.Leu201=) | |
| 17 | g.4955207A>C | CA397290200 | ENO3 | c.577A>C (p.Lys193Gln) c.448A>C (p.Lys150Gln) c.*523A>C (n.*523A>C) c.604A>C (p.Lys202Gln) | |
| 17 | g.4955207A>G | CA397290195 | ENO3 | c.577A>G (p.Lys193Glu) c.448A>G (p.Lys150Glu) c.*523A>G (n.*523A>G) c.604A>G (p.Lys202Glu) | |
| 17 | g.4955207A>T | CA397290198 | ENO3 | c.577A>T (p.Lys193Ter) c.448A>T (p.Lys150Ter) c.*523A>T (n.*523A>T) c.604A>T (p.Lys202Ter) | |
| 17 | g.4955208A>C | CA397290203 | ENO3 | c.578A>C (p.Lys193Thr) c.449A>C (p.Lys150Thr) c.*524A>C (n.*524A>C) c.605A>C (p.Lys202Thr) | |
| 17 | g.4955208A>G | CA397290205 | ENO3 | c.578A>G (p.Lys193Arg) c.449A>G (p.Lys150Arg) c.*524A>G (n.*524A>G) c.605A>G (p.Lys202Arg) | gnomAD v4 |
| 17 | g.4955208A>T | CA397290207 | ENO3 | c.578A>T (p.Lys193Met) c.449A>T (p.Lys150Met) c.*524A>T (n.*524A>T) c.605A>T (p.Lys202Met) | |
| 17 | g.4955209G>A | CA497679425 | ENO3 | c.579G>A (p.Lys193=) c.450G>A (p.Lys150=) c.*525G>A (n.*525G>A) c.606G>A (p.Lys202=) | dbSNP |
| 17 | g.4955209G>C | CA8316356 | ENO3 | c.579G>C (p.Lys193Asn) c.450G>C (p.Lys150Asn) c.*525G>C (n.*525G>C) c.606G>C (p.Lys202Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955209G= | CA2244628346 | ENO3 | c.579G= (p.Lys193=) c.450G= (p.Lys150=) c.*525G= (n.*525G=) c.606G= (p.Lys202=) | |
| 17 | g.4955209G>T | CA397290212 | ENO3 | c.579G>T (p.Lys193Asn) c.450G>T (p.Lys150Asn) c.*525G>T (n.*525G>T) c.606G>T (p.Lys202Asn) | |
| 17 | g.4955213del | CA2635584727 | ENO3 | c.583del (p.Val195SerfsTer?) c.454del (p.Val152SerfsTer?) c.*529del (n.*529del) c.610del (p.Val204SerfsTer?) | gnomAD v4 |
| 17 | g.4955210G>A | CA397290216 | ENO3 | c.580G>A (p.Gly194Arg) c.451G>A (p.Gly151Arg) c.*526G>A (n.*526G>A) c.607G>A (p.Gly203Arg) | |
| 17 | g.4955210G>C | CA397290219 | ENO3 | c.580G>C (p.Gly194Arg) c.451G>C (p.Gly151Arg) c.*526G>C (n.*526G>C) c.607G>C (p.Gly203Arg) | |
| 17 | g.4955210G>T | CA397290218 | ENO3 | c.580G>T (p.Gly194Trp) c.451G>T (p.Gly151Trp) c.*526G>T (n.*526G>T) c.607G>T (p.Gly203Trp) | |
| 17 | g.4955211G>A | CA397290222 | ENO3 | c.581G>A (p.Gly194Glu) c.452G>A (p.Gly151Glu) c.*527G>A (n.*527G>A) c.608G>A (p.Gly203Glu) | dbSNP gnomAD v4 |
| 17 | g.4955211G>C | CA397290224 | ENO3 | c.581G>C (p.Gly194Ala) c.452G>C (p.Gly151Ala) c.*527G>C (n.*527G>C) c.608G>C (p.Gly203Ala) | dbSNP gnomAD v2 |
| 17 | g.4955211G= | CA2244628350 | ENO3 | c.581G= (p.Gly194=) c.452G= (p.Gly151=) c.*527G= (n.*527G=) c.608G= (p.Gly203=) | |
| 17 | g.4955211G>T | CA397290226 | ENO3 | c.581G>T (p.Gly194Val) c.452G>T (p.Gly151Val) c.*527G>T (n.*527G>T) c.608G>T (p.Gly203Val) | |
| 17 | g.4955212G>A | CA497679430 | ENO3 | c.582G>A (p.Gly194=) c.453G>A (p.Gly151=) c.*528G>A (n.*528G>A) c.609G>A (p.Gly203=) | dbSNP gnomAD v2 |
| 17 | g.4955212G>C | CA497679431 | ENO3 | c.582G>C (p.Gly194=) c.453G>C (p.Gly151=) c.*528G>C (n.*528G>C) c.609G>C (p.Gly203=) | dbSNP gnomAD v4 |
| 17 | g.4955212G= | CA2244628354 | ENO3 | c.582G= (p.Gly194=) c.453G= (p.Gly151=) c.*528G= (n.*528G=) c.609G= (p.Gly203=) | |
| 17 | g.4955212G>T | CA497679432 | ENO3 | c.582G>T (p.Gly194=) c.453G>T (p.Gly151=) c.*528G>T (n.*528G>T) c.609G>T (p.Gly203=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4955213G>A | CA397290230 | ENO3 | c.583G>A (p.Val195Ile) c.454G>A (p.Val152Ile) c.*529G>A (n.*529G>A) c.610G>A (p.Val204Ile) | gnomAD v4 |
| 17 | g.4955213G>C | CA397290231 | ENO3 | c.583G>C (p.Val195Leu) c.454G>C (p.Val152Leu) c.*529G>C (n.*529G>C) c.610G>C (p.Val204Leu) | |
| 17 | g.4955213G= | CA2244628359 | ENO3 | c.583G= (p.Val195=) c.454G= (p.Val152=) c.*529G= (n.*529G=) c.610G= (p.Val204=) | |
| 17 | g.4955213G>T | CA397290233 | ENO3 | c.583G>T (p.Val195Phe) c.454G>T (p.Val152Phe) c.*529G>T (n.*529G>T) c.610G>T (p.Val204Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4955213_4955216delinsGTCA | CA2244628358 | ENO3 | c.583_586delinsGTCA (p.Val195=) c.454_457delinsGTCA (p.Val152=) c.*529_*532delinsGTCA (n.*529_*532delinsGTCA) c.610_613delinsGTCA (p.Val204=) | |
| 17 | g.4955214T>A | CA397290236 | ENO3 | c.584T>A (p.Val195Asp) c.455T>A (p.Val152Asp) c.*530T>A (n.*530T>A) c.611T>A (p.Val204Asp) | |
| 17 | g.4955214T>C | CA397290246 | ENO3 | c.584T>C (p.Val195Ala) c.455T>C (p.Val152Ala) c.*530T>C (n.*530T>C) c.611T>C (p.Val204Ala) | gnomAD v4 |
| 17 | g.4955214T>G | CA397290248 | ENO3 | c.584T>G (p.Val195Gly) c.455T>G (p.Val152Gly) c.*530T>G (n.*530T>G) c.611T>G (p.Val204Gly) | |
| 17 | g.4955217_4955219del | CA8316357 | ENO3 | c.587_589del (p.Ile196del) c.458_460del (p.Ile153del) c.*533_*535del (n.*533_*535del) c.614_616del (p.Ile205del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955215C>A | CA497679433 | ENO3 | c.585C>A (p.Val195=) c.456C>A (p.Val152=) c.*531C>A (n.*531C>A) c.612C>A (p.Val204=) | |
| 17 | g.4955215C>G | CA497679435 | ENO3 | c.585C>G (p.Val195=) c.456C>G (p.Val152=) c.*531C>G (n.*531C>G) c.612C>G (p.Val204=) | |
| 17 | g.4955215C>T | CA497679437 | ENO3 | c.585C>T (p.Val195=) c.456C>T (p.Val152=) c.*531C>T (n.*531C>T) c.612C>T (p.Val204=) | |
| 17 | g.4955216A>C | CA397290257 | ENO3 | c.586A>C (p.Ile196Leu) c.457A>C (p.Ile153Leu) c.*532A>C (n.*532A>C) c.613A>C (p.Ile205Leu) | gnomAD v4 |
| 17 | g.4955216A>G | CA397290255 | ENO3 | c.586A>G (p.Ile196Val) c.457A>G (p.Ile153Val) c.*532A>G (n.*532A>G) c.613A>G (p.Ile205Val) | gnomAD v4 |
| 17 | g.4955216A>T | CA397290253 | ENO3 | c.586A>T (p.Ile196Phe) c.457A>T (p.Ile153Phe) c.*532A>T (n.*532A>T) c.613A>T (p.Ile205Phe) | |
| 17 | g.4955217T>A | CA397290260 | ENO3 | c.587T>A (p.Ile196Asn) c.458T>A (p.Ile153Asn) c.*533T>A (n.*533T>A) c.614T>A (p.Ile205Asn) | |
| 17 | g.4955217T>C | CA397290266 | ENO3 | c.587T>C (p.Ile196Thr) c.458T>C (p.Ile153Thr) c.*533T>C (n.*533T>C) c.614T>C (p.Ile205Thr) | |
| 17 | g.4955217T>G | CA397290268 | ENO3 | c.587T>G (p.Ile196Ser) c.458T>G (p.Ile153Ser) c.*533T>G (n.*533T>G) c.614T>G (p.Ile205Ser) | |
| 17 | g.4955218C>A | CA497679440 | ENO3 | c.588C>A (p.Ile196=) c.459C>A (p.Ile153=) c.*534C>A (n.*534C>A) c.615C>A (p.Ile205=) | |
| 17 | g.4955218C>G | CA397290270 | ENO3 | c.588C>G (p.Ile196Met) c.459C>G (p.Ile153Met) c.*534C>G (n.*534C>G) c.615C>G (p.Ile205Met) | |
| 17 | g.4955218C>T | CA497679443 | ENO3 | c.588C>T (p.Ile196=) c.459C>T (p.Ile153=) c.*534C>T (n.*534C>T) c.615C>T (p.Ile205=) | |
| 17 | g.4955219A= | CA2244628365 | ENO3 | c.589A= (p.Lys197=) c.460A= (p.Lys154=) c.589A= c.*535A= (n.*535A=) c.616A= (p.Lys206=) | |
| 17 | g.4955219A>C | CA397290273 | ENO3 | c.589A>C (p.Lys197Gln) c.460A>C (p.Lys154Gln) c.589A>C c.*535A>C (n.*535A>C) c.616A>C (p.Lys206Gln) | |
| 17 | g.4955219A>G | CA397290275 | ENO3 | c.589A>G (p.Lys197Glu) c.460A>G (p.Lys154Glu) c.589A>G c.*535A>G (n.*535A>G) c.616A>G (p.Lys206Glu) | dbSNP |
| 17 | g.4955219A>T | CA397290278 | ENO3 | c.589A>T (p.Lys197Ter) c.460A>T (p.Lys154Ter) c.589A>T c.*535A>T (n.*535A>T) c.616A>T (p.Lys206Ter) | |
| 17 | g.4955220A>C | CA397290285 | ENO3 | c.590A>C (p.Lys197Thr) c.461A>C (p.Lys154Thr) c.590A>C c.*536A>C (n.*536A>C) c.617A>C (p.Lys206Thr) | |
| 17 | g.4955220A>G | CA397290280 | ENO3 | c.590A>G (p.Lys197Arg) c.461A>G (p.Lys154Arg) c.590A>G c.*536A>G (n.*536A>G) c.617A>G (p.Lys206Arg) | |
| 17 | g.4955220A>T | CA397290283 | ENO3 | c.590A>T (p.Lys197Met) c.461A>T (p.Lys154Met) c.590A>T c.*536A>T (n.*536A>T) c.617A>T (p.Lys206Met) | |
| 17 | g.4955221G>A | CA497679447 | ENO3 | c.591G>A (p.Lys197=) c.462G>A (p.Lys154=) c.*537G>A (n.*537G>A) c.618G>A (p.Lys206=) | dbSNP |
| 17 | g.4955221G>C | CA8316358 | ENO3 | c.591G>C (p.Lys197Asn) c.462G>C (p.Lys154Asn) c.*537G>C (n.*537G>C) c.618G>C (p.Lys206Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4955221G= | CA2244628367 | ENO3 | c.591G= (p.Lys197=) c.462G= (p.Lys154=) c.*537G= (n.*537G=) c.618G= (p.Lys206=) | |
| 17 | g.4955221G>T | CA397290289 | ENO3 | c.591G>T (p.Lys197Asn) c.462G>T (p.Lys154Asn) c.*537G>T (n.*537G>T) c.618G>T (p.Lys206Asn) | |
| 17 | g.4955222G>A | CA287175925 | ENO3 | c.592G>A (p.Ala198Thr) c.463G>A (p.Ala155Thr) c.*538G>A (n.*538G>A) c.619G>A (p.Ala207Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4955222G>C | CA397290294 | ENO3 | c.592G>C (p.Ala198Pro) c.463G>C (p.Ala155Pro) c.*538G>C (n.*538G>C) c.619G>C (p.Ala207Pro) | |
| 17 | g.4955222G= | CA2244628369 | ENO3 | c.592G= (p.Ala198=) c.463G= (p.Ala155=) c.*538G= (n.*538G=) c.619G= (p.Ala207=) | |
| 17 | g.4955222G>T | CA397290296 | ENO3 | c.592G>T (p.Ala198Ser) c.463G>T (p.Ala155Ser) c.*538G>T (n.*538G>T) c.619G>T (p.Ala207Ser) | |
| 17 | g.4955223C>A | CA397290300 | ENO3 | c.593C>A (p.Ala198Asp) c.464C>A (p.Ala155Asp) c.*539C>A (n.*539C>A) c.620C>A (p.Ala207Asp) | |
| 17 | g.4955223C= | CA2244628372 | ENO3 | c.593C= (p.Ala198=) c.464C= (p.Ala155=) c.*539C= (n.*539C=) c.620C= (p.Ala207=) | |
| 17 | g.4955223C>G | CA397290303 | ENO3 | c.593C>G (p.Ala198Gly) c.464C>G (p.Ala155Gly) c.*539C>G (n.*539C>G) c.620C>G (p.Ala207Gly) | |
| 17 | g.4955223C>T | CA397290301 | ENO3 | c.593C>T (p.Ala198Val) c.464C>T (p.Ala155Val) c.*539C>T (n.*539C>T) c.620C>T (p.Ala207Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4955223_4955224del | CA2537132551 | ENO3 | c.593_594del (p.Ala198GlufsTer11) c.464_465del (p.Ala155GlufsTer11) c.*539_*540del (n.*539_*540del) c.620_621del (p.Ala207GlufsTer11) | |
| 17 | g.4955224C>A | CA497679449 | ENO3 | c.594C>A (p.Ala198=) c.465C>A (p.Ala155=) c.*540C>A (n.*540C>A) c.621C>A (p.Ala207=) | COSMIC |
| 17 | g.4955224C>G | CA497679451 | ENO3 | c.594C>G (p.Ala198=) c.465C>G (p.Ala155=) c.*540C>G (n.*540C>G) c.621C>G (p.Ala207=) | |
| 17 | g.4955224C>T | CA497679452 | ENO3 | c.594C>T (p.Ala198=) c.465C>T (p.Ala155=) c.*540C>T (n.*540C>T) c.621C>T (p.Ala207=) | |
| 17 | g.4955225A>C | CA397290305 | ENO3 | c.595A>C (p.Lys199Gln) c.466A>C (p.Lys156Gln) c.*541A>C (n.*541A>C) c.622A>C (p.Lys208Gln) | |
| 17 | g.4955225A>G | CA397290307 | ENO3 | c.595A>G (p.Lys199Glu) c.466A>G (p.Lys156Glu) c.*541A>G (n.*541A>G) c.622A>G (p.Lys208Glu) | |
| 17 | g.4955225A>T | CA397290309 | ENO3 | c.595A>T (p.Lys199Ter) c.466A>T (p.Lys156Ter) c.*541A>T (n.*541A>T) c.622A>T (p.Lys208Ter) | |
| 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=) |