UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33014010C>A | CA647338356 | GLB1 | c.1734+46G>T (n.1734+46G>T) c.1341+46G>T (n.1341+46G>T) c.1644+46G>T (n.1644+46G>T) c.1878+46G>T (n.1878+46G>T) | COSMIC |
| 3 | g.33014012A= | CA1355984244 | GLB1 | c.1734+44T= (n.1734+44T=) c.1341+44T= (n.1341+44T=) c.1644+44T= (n.1644+44T=) c.1878+44T= (n.1878+44T=) | |
| 3 | g.33014012A>G | CA2299315 | GLB1 | c.1734+44T>C (n.1734+44T>C) c.1341+44T>C (n.1341+44T>C) c.1644+44T>C (n.1644+44T>C) c.1878+44T>C (n.1878+44T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33014013A= | CA1355984245 | GLB1 | c.1734+43T= (n.1734+43T=) c.1341+43T= (n.1341+43T=) c.1644+43T= (n.1644+43T=) c.1878+43T= (n.1878+43T=) | |
| 3 | g.33014013A>C | CA542170741 | GLB1 | c.1734+43T>G (n.1734+43T>G) c.1341+43T>G (n.1341+43T>G) c.1644+43T>G (n.1644+43T>G) c.1878+43T>G (n.1878+43T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33014019A= | CA1355984246 | GLB1 | c.1734+37T= (n.1734+37T=) c.1341+37T= (n.1341+37T=) c.1644+37T= (n.1644+37T=) c.1878+37T= (n.1878+37T=) | |
| 3 | g.33014019A>C | CA1355984247 | GLB1 | c.1734+37T>G (n.1734+37T>G) c.1341+37T>G (n.1341+37T>G) c.1644+37T>G (n.1644+37T>G) c.1878+37T>G (n.1878+37T>G) | dbSNP |
| 3 | g.33014022_33014023insTTTTGGT | CA2664923417 | GLB1 | c.1734+33_1734+34insACCAAAA (n.1734+33_1734+34insACCAAAA) c.1341+33_1341+34insACCAAAA (n.1341+33_1341+34insACCAAAA) c.1644+33_1644+34insACCAAAA (n.1644+33_1644+34insACCAAAA) c.1878+33_1878+34insACCAAAA (n.1878+33_1878+34insACCAAAA) | gnomAD v4 |
| 3 | g.33014023C>T | CA2664923418 | GLB1 | c.1734+33G>A (n.1734+33G>A) c.1341+33G>A (n.1341+33G>A) c.1644+33G>A (n.1644+33G>A) c.1878+33G>A (n.1878+33G>A) | gnomAD v4 |
| 3 | g.33014024T>C | CA2299316 | GLB1 | c.1734+32A>G (n.1734+32A>G) c.1341+32A>G (n.1341+32A>G) c.1644+32A>G (n.1644+32A>G) c.1878+32A>G (n.1878+32A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33014024T= | CA1355984248 | GLB1 | c.1734+32A= (n.1734+32A=) c.1341+32A= (n.1341+32A=) c.1644+32A= (n.1644+32A=) c.1878+32A= (n.1878+32A=) | |
| 3 | g.33014025G>A | CA1355984250 | GLB1 | c.1734+31C>T (n.1734+31C>T) c.1341+31C>T (n.1341+31C>T) c.1644+31C>T (n.1644+31C>T) c.1878+31C>T (n.1878+31C>T) | dbSNP gnomAD v4 |
| 3 | g.33014025G= | CA1355984249 | GLB1 | c.1734+31C= (n.1734+31C=) c.1341+31C= (n.1341+31C=) c.1644+31C= (n.1644+31C=) c.1878+31C= (n.1878+31C=) | |
| 3 | g.33014026A>G | CA2664923419 | GLB1 | c.1734+30T>C (n.1734+30T>C) c.1341+30T>C (n.1341+30T>C) c.1644+30T>C (n.1644+30T>C) c.1878+30T>C (n.1878+30T>C) | gnomAD v4 |
| 3 | g.33014027_33014028delinsAT | CA1355984251 | GLB1 | c.1734+28_1734+29delinsAT (n.1734+28_1734+29delinsAT) c.1341+28_1341+29delinsAT (n.1341+28_1341+29delinsAT) c.1644+28_1644+29delinsAT (n.1644+28_1644+29delinsAT) c.1878+28_1878+29delinsAT (n.1878+28_1878+29delinsAT) | |
| 3 | g.33014029del | CA916865678 | GLB1 | c.1734+28del (n.1734+28del) c.1341+28del (n.1341+28del) c.1644+28del (n.1644+28del) c.1878+28del (n.1878+28del) | dbSNP |
| 3 | g.33014034C>A | CA2299317 | GLB1 | c.1734+22G>T (n.1734+22G>T) c.1341+22G>T (n.1341+22G>T) c.1644+22G>T (n.1644+22G>T) c.1878+22G>T (n.1878+22G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33014034C= | CA1355984252 | GLB1 | c.1734+22G= (n.1734+22G=) c.1341+22G= (n.1341+22G=) c.1644+22G= (n.1644+22G=) c.1878+22G= (n.1878+22G=) | |
| 3 | g.33014034C>T | CA906348067 | GLB1 | c.1734+22G>A (n.1734+22G>A) c.1341+22G>A (n.1341+22G>A) c.1644+22G>A (n.1644+22G>A) c.1878+22G>A (n.1878+22G>A) | dbSNP |
| 3 | g.33014035C= | CA1355984253 | GLB1 | c.1734+21G= (n.1734+21G=) c.1341+21G= (n.1341+21G=) c.1644+21G= (n.1644+21G=) c.1878+21G= (n.1878+21G=) | |
| 3 | g.33014035C>G | CA2577539507 | GLB1 | c.1734+21G>C (n.1734+21G>C) c.1341+21G>C (n.1341+21G>C) c.1644+21G>C (n.1644+21G>C) c.1878+21G>C (n.1878+21G>C) | |
| 3 | g.33014035C>T | CA542170742 | GLB1 | c.1734+21G>A (n.1734+21G>A) c.1341+21G>A (n.1341+21G>A) c.1644+21G>A (n.1644+21G>A) c.1878+21G>A (n.1878+21G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33014036C>A | CA2664923420 | GLB1 | c.1734+20G>T (n.1734+20G>T) c.1341+20G>T (n.1341+20G>T) c.1644+20G>T (n.1644+20G>T) c.1878+20G>T (n.1878+20G>T) | gnomAD v4 |
| 3 | g.33014036C= | CA1355984254 | GLB1 | c.1734+20G= (n.1734+20G=) c.1341+20G= (n.1341+20G=) c.1644+20G= (n.1644+20G=) c.1878+20G= (n.1878+20G=) | |
| 3 | g.33014036C>T | CA542170743 | GLB1 | c.1734+20G>A (n.1734+20G>A) c.1341+20G>A (n.1341+20G>A) c.1644+20G>A (n.1644+20G>A) c.1878+20G>A (n.1878+20G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33014037T>C | CA2755763815 | GLB1 | c.1734+19A>G (n.1734+19A>G) c.1341+19A>G (n.1341+19A>G) c.1644+19A>G (n.1644+19A>G) c.1878+19A>G (n.1878+19A>G) | |
| 3 | g.33014039C= | CA1355984255 | GLB1 | c.1734+17G= (n.1734+17G=) c.1341+17G= (n.1341+17G=) c.1644+17G= (n.1644+17G=) c.1878+17G= (n.1878+17G=) | |
| 3 | g.33014039C>T | CA2299318 | GLB1 | c.1734+17G>A (n.1734+17G>A) c.1341+17G>A (n.1341+17G>A) c.1644+17G>A (n.1644+17G>A) c.1878+17G>A (n.1878+17G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33014040C>G | CA2664923421 | GLB1 | c.1734+16G>C (n.1734+16G>C) c.1341+16G>C (n.1341+16G>C) c.1644+16G>C (n.1644+16G>C) c.1878+16G>C (n.1878+16G>C) | gnomAD v4 |
| 3 | g.33014040C>T | CA2664923422 | GLB1 | c.1734+16G>A (n.1734+16G>A) c.1341+16G>A (n.1341+16G>A) c.1644+16G>A (n.1644+16G>A) c.1878+16G>A (n.1878+16G>A) | dbSNP gnomAD v4 |
| 3 | g.33014041C>A | CA2505771345 | GLB1 | c.1734+15G>T (n.1734+15G>T) c.1341+15G>T (n.1341+15G>T) c.1644+15G>T (n.1644+15G>T) c.1878+15G>T (n.1878+15G>T) | |
| 3 | g.33014042A>G | CA2580069238 | GLB1 | c.1734+14T>C (n.1734+14T>C) c.1341+14T>C (n.1341+14T>C) c.1644+14T>C (n.1644+14T>C) c.1878+14T>C (n.1878+14T>C) | ClinVar gnomAD v4 |
| 3 | g.33014042A>T | CA2664923423 | GLB1 | c.1734+14T>A (n.1734+14T>A) c.1341+14T>A (n.1341+14T>A) c.1644+14T>A (n.1644+14T>A) c.1878+14T>A (n.1878+14T>A) | gnomAD v4 |
| 3 | g.33014043T>A | CA2299319 | GLB1 | c.1734+13A>T (n.1734+13A>T) c.1341+13A>T (n.1341+13A>T) c.1644+13A>T (n.1644+13A>T) c.1878+13A>T (n.1878+13A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33014043T>C | CA72645998 | GLB1 | c.1734+13A>G (n.1734+13A>G) c.1341+13A>G (n.1341+13A>G) c.1644+13A>G (n.1644+13A>G) c.1878+13A>G (n.1878+13A>G) | ClinVar dbSNP |
| 3 | g.33014043T= | CA1355984256 | GLB1 | c.1734+13A= (n.1734+13A=) c.1341+13A= (n.1341+13A=) c.1644+13A= (n.1644+13A=) c.1878+13A= (n.1878+13A=) | |
| 3 | g.33014044G>A | CA906348072 | GLB1 | c.1734+12C>T (n.1734+12C>T) c.1341+12C>T (n.1341+12C>T) c.1644+12C>T (n.1644+12C>T) c.1878+12C>T (n.1878+12C>T) | dbSNP |
| 3 | g.33014044G= | CA1355984257 | GLB1 | c.1734+12C= (n.1734+12C=) c.1341+12C= (n.1341+12C=) c.1644+12C= (n.1644+12C=) c.1878+12C= (n.1878+12C=) | |
| 3 | g.33014048A>T | CA2664923424 | GLB1 | c.1734+8T>A (n.1734+8T>A) c.1341+8T>A (n.1341+8T>A) c.1644+8T>A (n.1644+8T>A) c.1878+8T>A (n.1878+8T>A) | gnomAD v4 |
| 3 | g.33014049C>T | CA2577539508 | GLB1 | c.1734+7G>A (n.1734+7G>A) c.1341+7G>A (n.1341+7G>A) c.1644+7G>A (n.1644+7G>A) c.1878+7G>A (n.1878+7G>A) | gnomAD v4 |
| 3 | g.33014050A= | CA1355984258 | GLB1 | c.1734+6T= (n.1734+6T=) c.1341+6T= (n.1341+6T=) c.1644+6T= (n.1644+6T=) c.1878+6T= (n.1878+6T=) | |
| 3 | g.33014050A>G | CA1355984259 | GLB1 | c.1734+6T>C (n.1734+6T>C) c.1341+6T>C (n.1341+6T>C) c.1644+6T>C (n.1644+6T>C) c.1878+6T>C (n.1878+6T>C) | dbSNP |
| 3 | g.33014051C>A | CA72646003 | GLB1 | c.1734+5G>T (n.1734+5G>T) c.1341+5G>T (n.1341+5G>T) c.1644+5G>T (n.1644+5G>T) c.1878+5G>T (n.1878+5G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33014051C= | CA1355984260 | GLB1 | c.1734+5G= (n.1734+5G=) c.1341+5G= (n.1341+5G=) c.1644+5G= (n.1644+5G=) c.1878+5G= (n.1878+5G=) | |
| 3 | g.33014051C>T | CA72646004 | GLB1 | c.1734+5G>A (n.1734+5G>A) c.1341+5G>A (n.1341+5G>A) c.1644+5G>A (n.1644+5G>A) c.1878+5G>A (n.1878+5G>A) | dbSNP gnomAD v4 |
| 3 | g.33014052G>A | CA2299320 | GLB1 | c.1734+4C>T (n.1734+4C>T) c.1341+4C>T (n.1341+4C>T) c.1644+4C>T (n.1644+4C>T) c.1878+4C>T (n.1878+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33014052G= | CA1355984261 | GLB1 | c.1734+4C= (n.1734+4C=) c.1341+4C= (n.1341+4C=) c.1644+4C= (n.1644+4C=) c.1878+4C= (n.1878+4C=) | |
| 3 | g.33014053T>C | CA2577539509 | GLB1 | c.1734+3A>G (n.1734+3A>G) c.1341+3A>G (n.1341+3A>G) c.1644+3A>G (n.1644+3A>G) c.1878+3A>G (n.1878+3A>G) | gnomAD v4 |
| 3 | g.33014054A>C | CA351983523 | GLB1 | c.1734+2T>G (n.1734+2T>G) c.1341+2T>G (n.1341+2T>G) c.1644+2T>G (n.1644+2T>G) c.1878+2T>G (n.1878+2T>G) | |
| 3 | g.33014054A>G | CA351983519 | GLB1 | c.1734+2T>C (n.1734+2T>C) c.1341+2T>C (n.1341+2T>C) c.1644+2T>C (n.1644+2T>C) c.1878+2T>C (n.1878+2T>C) | gnomAD v4 |
| 3 | g.33014054A>T | CA351983521 | GLB1 | c.1734+2T>A (n.1734+2T>A) c.1341+2T>A (n.1341+2T>A) c.1644+2T>A (n.1644+2T>A) c.1878+2T>A (n.1878+2T>A) | |
| 3 | g.33014055C>A | CA351983524 | GLB1 | c.1734+1G>T (n.1734+1G>T) c.1341+1G>T (n.1341+1G>T) c.1644+1G>T (n.1644+1G>T) c.1878+1G>T (n.1878+1G>T) | |
| 3 | g.33014055C= | CA1355984262 | GLB1 | c.1734+1G= (n.1734+1G=) c.1341+1G= (n.1341+1G=) c.1644+1G= (n.1644+1G=) c.1878+1G= (n.1878+1G=) | |
| 3 | g.33014055C>G | CA351983525 | GLB1 | c.1734+1G>C (n.1734+1G>C) c.1341+1G>C (n.1341+1G>C) c.1644+1G>C (n.1644+1G>C) c.1878+1G>C (n.1878+1G>C) | |
| 3 | g.33014055C>T | CA351983526 | GLB1 | c.1734+1G>A (n.1734+1G>A) c.1341+1G>A (n.1341+1G>A) c.1644+1G>A (n.1644+1G>A) c.1878+1G>A (n.1878+1G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.33014056C>A | CA351983529 | GLB1 | c.1734G>T (p.Lys578Asn) c.1341G>T (p.Lys447Asn) c.1644G>T (p.Lys548Asn) c.1878G>T (p.Lys626Asn) | gnomAD v4 |
| 3 | g.33014056C>G | CA351983530 | GLB1 | c.1734G>C (p.Lys578Asn) c.1341G>C (p.Lys447Asn) c.1644G>C (p.Lys548Asn) c.1878G>C (p.Lys626Asn) | |
| 3 | g.33014056C>T | CA432952506 | GLB1 | c.1734G>A (p.Lys578=) c.1341G>A (p.Lys447=) c.1644G>A (p.Lys548=) c.1878G>A (p.Lys626=) | |
| 3 | g.33014057T>A | CA351983532 | GLB1 | c.1733A>T (p.Lys578Met) c.1340A>T (p.Lys447Met) c.1643A>T (p.Lys548Met) c.1877A>T (p.Lys626Met) | |
| 3 | g.33014057T>C | CA2299321 | GLB1 | c.1733A>G (p.Lys578Arg) c.1340A>G (p.Lys447Arg) c.1643A>G (p.Lys548Arg) c.1877A>G (p.Lys626Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33014057T>G | CA351983534 | GLB1 | c.1733A>C (p.Lys578Thr) c.1340A>C (p.Lys447Thr) c.1643A>C (p.Lys548Thr) c.1877A>C (p.Lys626Thr) | |
| 3 | g.33014057T= | CA1355984263 | GLB1 | c.1733A= (p.Lys578=) c.1340A= (p.Lys447=) c.1643A= (p.Lys548=) c.1877A= (p.Lys626=) | |
| 3 | g.33014058T>A | CA351983536 | GLB1 | c.1732A>T (p.Lys578Ter) c.1339A>T (p.Lys447Ter) c.1642A>T (p.Lys548Ter) c.1876A>T (p.Lys626Ter) | |
| 3 | g.33014058T>C | CA2299322 | GLB1 | c.1732A>G (p.Lys578Glu) c.1339A>G (p.Lys447Glu) c.1642A>G (p.Lys548Glu) c.1876A>G (p.Lys626Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.33014058T>G | CA351983537 | GLB1 | c.1732A>C (p.Lys578Gln) c.1339A>C (p.Lys447Gln) c.1642A>C (p.Lys548Gln) c.1876A>C (p.Lys626Gln) | ClinVar dbSNP |
| 3 | g.33014058T= | CA1355984264 | GLB1 | c.1732A= (p.Lys578=) c.1339A= (p.Lys447=) c.1642A= (p.Lys548=) c.1876A= (p.Lys626=) | |
| 3 | g.33014059G>A | CA432952512 | GLB1 | c.1731C>T (p.Thr577=) c.1338C>T (p.Thr446=) c.1641C>T (p.Thr547=) c.1875C>T (p.Thr625=) | dbSNP |
| 3 | g.33014059G>C | CA432952514 | GLB1 | c.1731C>G (p.Thr577=) c.1338C>G (p.Thr446=) c.1641C>G (p.Thr547=) c.1875C>G (p.Thr625=) | |
| 3 | g.33014059G= | CA1355984265 | GLB1 | c.1731C= (p.Thr577=) c.1338C= (p.Thr446=) c.1641C= (p.Thr547=) c.1875C= (p.Thr625=) | |
| 3 | g.33014059G>T | CA432952511 | GLB1 | c.1731C>A (p.Thr577=) c.1338C>A (p.Thr446=) c.1641C>A (p.Thr547=) c.1875C>A (p.Thr625=) | gnomAD v4 |
| 3 | g.33014060G>A | CA351983542 | GLB1 | c.1730C>T (p.Thr577Ile) c.1337C>T (p.Thr446Ile) c.1640C>T (p.Thr547Ile) c.1874C>T (p.Thr625Ile) | |
| 3 | g.33014060G>C | CA351983544 | GLB1 | c.1730C>G (p.Thr577Ser) c.1337C>G (p.Thr446Ser) c.1640C>G (p.Thr547Ser) c.1874C>G (p.Thr625Ser) | |
| 3 | g.33014060G= | CA1355984266 | GLB1 | c.1730C= (p.Thr577=) c.1337C= (p.Thr446=) c.1640C= (p.Thr547=) c.1874C= (p.Thr625=) | |
| 3 | g.33014060G>T | CA72646019 | GLB1 | c.1730C>A (p.Thr577Asn) c.1337C>A (p.Thr446Asn) c.1640C>A (p.Thr547Asn) c.1874C>A (p.Thr625Asn) | dbSNP gnomAD v4 |
| 3 | g.33014061T>A | CA351983549 | GLB1 | c.1729A>T (p.Thr577Ser) c.1336A>T (p.Thr446Ser) c.1639A>T (p.Thr547Ser) c.1873A>T (p.Thr625Ser) | |
| 3 | g.33014061T>C | CA351983552 | GLB1 | c.1729A>G (p.Thr577Ala) c.1336A>G (p.Thr446Ala) c.1639A>G (p.Thr547Ala) c.1873A>G (p.Thr625Ala) | gnomAD v4 |
| 3 | g.33014061T>G | CA351983553 | GLB1 | c.1729A>C (p.Thr577Pro) c.1336A>C (p.Thr446Pro) c.1639A>C (p.Thr547Pro) c.1873A>C (p.Thr625Pro) | |
| 3 | g.33014062C>A | CA351983557 | GLB1 | c.1728G>T (p.Trp576Cys) c.1335G>T (p.Trp445Cys) c.1638G>T (p.Trp546Cys) c.1872G>T (p.Trp624Cys) | |
| 3 | g.33014062C>G | CA351983558 | GLB1 | c.1728G>C (p.Trp576Cys) c.1335G>C (p.Trp445Cys) c.1638G>C (p.Trp546Cys) c.1872G>C (p.Trp624Cys) | |
| 3 | g.33014062C>T | CA351983561 | GLB1 | c.1728G>A (p.Trp576Ter) c.1335G>A (p.Trp445Ter) c.1638G>A (p.Trp546Ter) c.1872G>A (p.Trp624Ter) | ClinVar |
| 3 | g.33014063C>A | CA351983564 | GLB1 | c.1727G>T (p.Trp576Leu) c.1334G>T (p.Trp445Leu) c.1637G>T (p.Trp546Leu) c.1871G>T (p.Trp624Leu) | |
| 3 | g.33014063C>G | CA351983568 | GLB1 | c.1727G>C (p.Trp576Ser) c.1334G>C (p.Trp445Ser) c.1637G>C (p.Trp546Ser) c.1871G>C (p.Trp624Ser) | |
| 3 | g.33014063C>T | CA351983569 | GLB1 | c.1727G>A (p.Trp576Ter) c.1334G>A (p.Trp445Ter) c.1637G>A (p.Trp546Ter) c.1871G>A (p.Trp624Ter) | |
| 3 | g.33014064A>C | CA351983572 | GLB1 | c.1726T>G (p.Trp576Gly) c.1333T>G (p.Trp445Gly) c.1636T>G (p.Trp546Gly) c.1870T>G (p.Trp624Gly) | |
| 3 | g.33014064A>G | CA351983573 | GLB1 | c.1726T>C (p.Trp576Arg) c.1333T>C (p.Trp445Arg) c.1636T>C (p.Trp546Arg) c.1870T>C (p.Trp624Arg) | |
| 3 | g.33014064A>T | CA351983576 | GLB1 | c.1726T>A (p.Trp576Arg) c.1333T>A (p.Trp445Arg) c.1636T>A (p.Trp546Arg) c.1870T>A (p.Trp624Arg) | |
| 3 | g.33014065_33014082del | CA2577539510 | GLB1 | c.1709_1726del (p.Phe570_Gly575del) c.1316_1333del (p.Phe439_Gly444del) c.1619_1636del (p.Phe540_Gly545del) c.1853_1870del (p.Phe618_Gly623del) | |
| 3 | g.33014065T>A | CA432952519 | GLB1 | c.1725A>T (p.Gly575=) c.1332A>T (p.Gly444=) c.1635A>T (p.Gly545=) c.1869A>T (p.Gly623=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33014065T>C | CA432952520 | GLB1 | c.1725A>G (p.Gly575=) c.1332A>G (p.Gly444=) c.1635A>G (p.Gly545=) c.1869A>G (p.Gly623=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.33014065T>G | CA432952521 | GLB1 | c.1725A>C (p.Gly575=) c.1332A>C (p.Gly444=) c.1635A>C (p.Gly545=) c.1869A>C (p.Gly623=) | |
| 3 | g.33014065T= | CA1355984267 | GLB1 | c.1725A= (p.Gly575=) c.1332A= (p.Gly444=) c.1635A= (p.Gly545=) c.1869A= (p.Gly623=) | |
| 3 | g.33014065_33014066delinsCA | CA2580069240 | GLB1 | c.1724_1725delinsTG (p.Gly575Val) c.1331_1332delinsTG (p.Gly444Val) c.1634_1635delinsTG (p.Gly545Val) c.1868_1869delinsTG (p.Gly623Val) | ClinVar |
| 3 | g.33014066C>A | CA351983580 | GLB1 | c.1724G>T (p.Gly575Val) c.1331G>T (p.Gly444Val) c.1634G>T (p.Gly545Val) c.1868G>T (p.Gly623Val) | |
| 3 | g.33014066C= | CA1355984268 | GLB1 | c.1724G= (p.Gly575=) c.1331G= (p.Gly444=) c.1634G= (p.Gly545=) c.1868G= (p.Gly623=) | |
| 3 | g.33014066C>G | CA351983581 | GLB1 | c.1724G>C (p.Gly575Ala) c.1331G>C (p.Gly444Ala) c.1634G>C (p.Gly545Ala) c.1868G>C (p.Gly623Ala) | COSMIC |
| 3 | g.33014066C>T | CA351983579 | GLB1 | c.1724G>A (p.Gly575Glu) c.1331G>A (p.Gly444Glu) c.1634G>A (p.Gly545Glu) c.1868G>A (p.Gly623Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33014067C>A | CA351983584 | GLB1 | c.1723G>T (p.Gly575Ter) c.1330G>T (p.Gly444Ter) c.1633G>T (p.Gly545Ter) c.1867G>T (p.Gly623Ter) | |
| 3 | g.33014067C>G | CA351983587 | GLB1 | c.1723G>C (p.Gly575Arg) c.1330G>C (p.Gly444Arg) c.1633G>C (p.Gly545Arg) c.1867G>C (p.Gly623Arg) | |
| 3 | g.33014067C>T | CA351983590 | GLB1 | c.1723G>A (p.Gly575Arg) c.1330G>A (p.Gly444Arg) c.1633G>A (p.Gly545Arg) c.1867G>A (p.Gly623Arg) | gnomAD v4 |
| 3 | g.33014068A>C | CA432952525 | GLB1 | c.1722T>G (p.Pro574=) c.1329T>G (p.Pro443=) c.1632T>G (p.Pro544=) c.1866T>G (p.Pro622=) | |
| 3 | g.33014068A>G | CA432952527 | GLB1 | c.1722T>C (p.Pro574=) c.1329T>C (p.Pro443=) c.1632T>C (p.Pro544=) c.1866T>C (p.Pro622=) | |
| 3 | g.33014068A>T | CA432952529 | GLB1 | c.1722T>A (p.Pro574=) c.1329T>A (p.Pro443=) c.1632T>A (p.Pro544=) c.1866T>A (p.Pro622=) | |
| 3 | g.33014069G>A | CA2299324 | GLB1 | c.1721C>T (p.Pro574Leu) c.1328C>T (p.Pro443Leu) c.1631C>T (p.Pro544Leu) c.1865C>T (p.Pro622Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33014069G>C | CA2299323 | GLB1 | c.1721C>G (p.Pro574Arg) c.1328C>G (p.Pro443Arg) c.1631C>G (p.Pro544Arg) c.1865C>G (p.Pro622Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.33014069G= | CA1355984269 | GLB1 | c.1721C= (p.Pro574=) c.1328C= (p.Pro443=) c.1631C= (p.Pro544=) c.1865C= (p.Pro622=) | |
| 3 | g.33014069G>T | CA351983597 | GLB1 | c.1721C>A (p.Pro574His) c.1328C>A (p.Pro443His) c.1631C>A (p.Pro544His) c.1865C>A (p.Pro622His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.33014070G>A | CA351983606 | GLB1 | c.1720C>T (p.Pro574Ser) c.1327C>T (p.Pro443Ser) c.1630C>T (p.Pro544Ser) c.1864C>T (p.Pro622Ser) | gnomAD v4 |
| 3 | g.33014070G>C | CA351983600 | GLB1 | c.1720C>G (p.Pro574Ala) c.1327C>G (p.Pro443Ala) c.1630C>G (p.Pro544Ala) c.1864C>G (p.Pro622Ala) | |
| 3 | g.33014070G>T | CA351983603 | GLB1 | c.1720C>A (p.Pro574Thr) c.1327C>A (p.Pro443Thr) c.1630C>A (p.Pro544Thr) c.1864C>A (p.Pro622Thr) | |
| 3 | g.33014071A= | CA1355984270 | GLB1 | c.1719T= (p.Phe573=) c.1326T= (p.Phe442=) c.1629T= (p.Phe543=) c.1863T= (p.Phe621=) | |
| 3 | g.33014071A>C | CA351983608 | GLB1 | c.1719T>G (p.Phe573Leu) c.1326T>G (p.Phe442Leu) c.1629T>G (p.Phe543Leu) c.1863T>G (p.Phe621Leu) | |
| 3 | g.33014071A>G | CA72646034 | GLB1 | c.1719T>C (p.Phe573=) c.1326T>C (p.Phe442=) c.1629T>C (p.Phe543=) c.1863T>C (p.Phe621=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.33014071A>T | CA351983611 | GLB1 | c.1719T>A (p.Phe573Leu) c.1326T>A (p.Phe442Leu) c.1629T>A (p.Phe543Leu) c.1863T>A (p.Phe621Leu) | |
| 3 | g.33014072A>C | CA351983612 | GLB1 | c.1718T>G (p.Phe573Cys) c.1325T>G (p.Phe442Cys) c.1628T>G (p.Phe543Cys) c.1862T>G (p.Phe621Cys) | |
| 3 | g.33014072A>G | CA351983615 | GLB1 | c.1718T>C (p.Phe573Ser) c.1325T>C (p.Phe442Ser) c.1628T>C (p.Phe543Ser) c.1862T>C (p.Phe621Ser) | |
| 3 | g.33014072A>T | CA351983617 | GLB1 | c.1718T>A (p.Phe573Tyr) c.1325T>A (p.Phe442Tyr) c.1628T>A (p.Phe543Tyr) c.1862T>A (p.Phe621Tyr) | |
| 3 | g.33014073A>C | CA351983620 | GLB1 | c.1717T>G (p.Phe573Val) c.1324T>G (p.Phe442Val) c.1627T>G (p.Phe543Val) n.816T>G c.1861T>G (p.Phe621Val) | |
| 3 | g.33014073A>G | CA351983626 | GLB1 | c.1717T>C (p.Phe573Leu) c.1324T>C (p.Phe442Leu) c.1627T>C (p.Phe543Leu) n.816T>C c.1861T>C (p.Phe621Leu) | |
| 3 | g.33014073A>T | CA351983624 | GLB1 | c.1717T>A (p.Phe573Ile) c.1324T>A (p.Phe442Ile) c.1627T>A (p.Phe543Ile) n.816T>A c.1861T>A (p.Phe621Ile) | |
| 3 | g.33014074C>A | CA351983663 | GLB1 | c.1716G>T (p.Gln572His) c.1323G>T (p.Gln441His) c.1626G>T (p.Gln542His) n.815G>T c.1860G>T (p.Gln620His) | |
| 3 | g.33014074C>G | CA351983665 | GLB1 | c.1716G>C (p.Gln572His) c.1323G>C (p.Gln441His) c.1626G>C (p.Gln542His) n.815G>C c.1860G>C (p.Gln620His) | |
| 3 | g.33014074C>T | CA432952538 | GLB1 | c.1716G>A (p.Gln572=) c.1323G>A (p.Gln441=) c.1626G>A (p.Gln542=) n.815G>A c.1860G>A (p.Gln620=) | ClinVar gnomAD v4 |
| 3 | g.33014075T>A | CA351983667 | GLB1 | c.1715A>T (p.Gln572Leu) c.1322A>T (p.Gln441Leu) c.1625A>T (p.Gln542Leu) n.814A>T c.1859A>T (p.Gln620Leu) | gnomAD v4 |
| 3 | g.33014075T>C | CA2299325 | GLB1 | c.1715A>G (p.Gln572Arg) c.1322A>G (p.Gln441Arg) c.1625A>G (p.Gln542Arg) n.814A>G c.1859A>G (p.Gln620Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33014075T>G | CA351983670 | GLB1 | c.1715A>C (p.Gln572Pro) c.1322A>C (p.Gln441Pro) c.1625A>C (p.Gln542Pro) n.814A>C c.1859A>C (p.Gln620Pro) | |
| 3 | g.33014075T= | CA1355984271 | GLB1 | c.1715A= (p.Gln572=) c.1322A= (p.Gln441=) c.1625A= (p.Gln542=) n.814A= c.1859A= (p.Gln620=) | |
| 3 | g.33014076G>A | CA72646038 | GLB1 | c.1714C>T (p.Gln572Ter) c.1321C>T (p.Gln441Ter) c.1624C>T (p.Gln542Ter) n.813C>T c.1858C>T (p.Gln620Ter) | ClinVar dbSNP gnomAD v2 |
| 3 | g.33014076G>C | CA351983673 | GLB1 | c.1714C>G (p.Gln572Glu) c.1321C>G (p.Gln441Glu) c.1624C>G (p.Gln542Glu) n.813C>G c.1858C>G (p.Gln620Glu) | |
| 3 | g.33014076G= | CA1355984272 | GLB1 | c.1714C= (p.Gln572=) c.1321C= (p.Gln441=) c.1624C= (p.Gln542=) n.813C= c.1858C= (p.Gln620=) | |
| 3 | g.33014076G>T | CA351983675 | GLB1 | c.1714C>A (p.Gln572Lys) c.1321C>A (p.Gln441Lys) c.1624C>A (p.Gln542Lys) n.813C>A c.1858C>A (p.Gln620Lys) | |
| 3 | g.33014077G>A | CA432952544 | GLB1 | c.1713C>T (p.Ile571=) c.1320C>T (p.Ile440=) c.1623C>T (p.Ile541=) n.812C>T c.1857C>T (p.Ile619=) | |
| 3 | g.33014077G>C | CA351983676 | GLB1 | c.1713C>G (p.Ile571Met) c.1320C>G (p.Ile440Met) c.1623C>G (p.Ile541Met) n.812C>G c.1857C>G (p.Ile619Met) | |
| 3 | g.33014077G>T | CA432952542 | GLB1 | c.1713C>A (p.Ile571=) c.1320C>A (p.Ile440=) c.1623C>A (p.Ile541=) n.812C>A c.1857C>A (p.Ile619=) | |
| 3 | g.33014078A>C | CA351983680 | GLB1 | c.1712T>G (p.Ile571Ser) c.1319T>G (p.Ile440Ser) c.1622T>G (p.Ile541Ser) n.811T>G c.1856T>G (p.Ile619Ser) | |
| 3 | g.33014078A>G | CA351983678 | GLB1 | c.1712T>C (p.Ile571Thr) c.1319T>C (p.Ile440Thr) c.1622T>C (p.Ile541Thr) n.811T>C c.1856T>C (p.Ile619Thr) | |
| 3 | g.33014078A>T | CA351983679 | GLB1 | c.1712T>A (p.Ile571Asn) c.1319T>A (p.Ile440Asn) c.1622T>A (p.Ile541Asn) n.811T>A c.1856T>A (p.Ile619Asn) | |
| 3 | g.33014079T>A | CA351983682 | GLB1 | c.1711A>T (p.Ile571Phe) c.1318A>T (p.Ile440Phe) c.1621A>T (p.Ile541Phe) n.810A>T c.1855A>T (p.Ile619Phe) | ClinVar dbSNP |
| 3 | g.33014079T>C | CA351983683 | GLB1 | c.1711A>G (p.Ile571Val) c.1318A>G (p.Ile440Val) c.1621A>G (p.Ile541Val) n.810A>G c.1855A>G (p.Ile619Val) | |
| 3 | g.33014079T>G | CA351983684 | GLB1 | c.1711A>C (p.Ile571Leu) c.1318A>C (p.Ile440Leu) c.1621A>C (p.Ile541Leu) n.810A>C c.1855A>C (p.Ile619Leu) | |
| 3 | g.33014079T= | CA1355984273 | GLB1 | c.1711A= (p.Ile571=) c.1318A= (p.Ile440=) c.1621A= (p.Ile541=) n.810A= c.1855A= (p.Ile619=) | |
| 3 | g.33014080A>C | CA351983686 | GLB1 | c.1710T>G (p.Phe570Leu) c.1317T>G (p.Phe439Leu) c.1620T>G (p.Phe540Leu) n.809T>G c.1854T>G (p.Phe618Leu) | |
| 3 | g.33014080A>G | CA432952545 | GLB1 | c.1710T>C (p.Phe570=) c.1317T>C (p.Phe439=) c.1620T>C (p.Phe540=) n.809T>C c.1854T>C (p.Phe618=) | |
| 3 | g.33014080A>T | CA351983687 | GLB1 | c.1710T>A (p.Phe570Leu) c.1317T>A (p.Phe439Leu) c.1620T>A (p.Phe540Leu) n.809T>A c.1854T>A (p.Phe618Leu) | |
| 3 | g.33014081A= | CA1355984274 | GLB1 | c.1709T= (p.Phe570=) c.1316T= (p.Phe439=) c.1619T= (p.Phe540=) n.808T= c.1853T= (p.Phe618=) | |
| 3 | g.33014081A>C | CA72646040 | GLB1 | c.1709T>G (p.Phe570Cys) c.1316T>G (p.Phe439Cys) c.1619T>G (p.Phe540Cys) n.808T>G c.1853T>G (p.Phe618Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.33014081A>G | CA351983696 | GLB1 | c.1709T>C (p.Phe570Ser) c.1316T>C (p.Phe439Ser) c.1619T>C (p.Phe540Ser) n.808T>C c.1853T>C (p.Phe618Ser) | |
| 3 | g.33014081A>T | CA351983695 | GLB1 | c.1709T>A (p.Phe570Tyr) c.1316T>A (p.Phe439Tyr) c.1619T>A (p.Phe540Tyr) n.808T>A c.1853T>A (p.Phe618Tyr) | |
| 3 | g.33014082A>C | CA351983697 | GLB1 | c.1708T>G (p.Phe570Val) c.1315T>G (p.Phe439Val) c.1618T>G (p.Phe540Val) n.807T>G c.1852T>G (p.Phe618Val) | |
| 3 | g.33014082A>G | CA351983700 | GLB1 | c.1708T>C (p.Phe570Leu) c.1315T>C (p.Phe439Leu) c.1618T>C (p.Phe540Leu) n.807T>C c.1852T>C (p.Phe618Leu) | |
| 3 | g.33014082A>T | CA351983703 | GLB1 | c.1708T>A (p.Phe570Ile) c.1315T>A (p.Phe439Ile) c.1618T>A (p.Phe540Ile) n.807T>A c.1852T>A (p.Phe618Ile) | |
| 3 | g.33014083G>A | CA432952546 | GLB1 | c.1707C>T (p.Thr569=) c.1314C>T (p.Thr438=) c.1617C>T (p.Thr539=) n.806C>T c.1851C>T (p.Thr617=) | ClinVar |
| 3 | g.33014083G>C | CA2299326 | GLB1 | c.1707C>G (p.Thr569=) c.1314C>G (p.Thr438=) c.1617C>G (p.Thr539=) n.806C>G c.1851C>G (p.Thr617=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.33014083G= | CA1355984275 | GLB1 | c.1707C= (p.Thr569=) c.1314C= (p.Thr438=) c.1617C= (p.Thr539=) n.806C= c.1851C= (p.Thr617=) | |
| 3 | g.33014083G>T | CA432952547 | GLB1 | c.1707C>A (p.Thr569=) c.1314C>A (p.Thr438=) c.1617C>A (p.Thr539=) n.806C>A c.1851C>A (p.Thr617=) | |
| 3 | g.33014084del | CA2586971834 | GLB1 | c.1707del (p.Phe570LeufsTer?) c.1314del (p.Phe439LeufsTer?) c.1617del (p.Phe540LeufsTer?) n.806del c.1851del (p.Phe618LeufsTer?) | gnomAD v4 |
| 3 | g.33014084G>A | CA351983707 | GLB1 | c.1706C>T (p.Thr569Ile) c.1313C>T (p.Thr438Ile) c.1616C>T (p.Thr539Ile) n.805C>T c.1850C>T (p.Thr617Ile) | gnomAD v4 |
| 3 | g.33014084G>C | CA351983713 | GLB1 | c.1706C>G (p.Thr569Ser) c.1313C>G (p.Thr438Ser) c.1616C>G (p.Thr539Ser) n.805C>G c.1850C>G (p.Thr617Ser) | |
| 3 | g.33014084G>T | CA351983716 | GLB1 | c.1706C>A (p.Thr569Asn) c.1313C>A (p.Thr438Asn) c.1616C>A (p.Thr539Asn) n.805C>A c.1850C>A (p.Thr617Asn) | |
| 3 | g.33014085T>A | CA351983720 | GLB1 | c.1705A>T (p.Thr569Ser) c.1312A>T (p.Thr438Ser) c.1615A>T (p.Thr539Ser) n.804A>T c.1849A>T (p.Thr617Ser) | |
| 3 | g.33014085T>C | CA351983721 | GLB1 | c.1705A>G (p.Thr569Ala) c.1312A>G (p.Thr438Ala) c.1615A>G (p.Thr539Ala) n.804A>G c.1849A>G (p.Thr617Ala) | dbSNP |
| 3 | g.33014085T>G | CA351983724 | GLB1 | c.1705A>C (p.Thr569Pro) c.1312A>C (p.Thr438Pro) c.1615A>C (p.Thr539Pro) n.804A>C c.1849A>C (p.Thr617Pro) | |
| 3 | g.33014085T= | CA1355984276 | GLB1 | c.1705A= (p.Thr569=) c.1312A= (p.Thr438=) c.1615A= (p.Thr539=) n.804A= c.1849A= (p.Thr617=) | |
| 3 | g.33014086G>A | CA432952550 | GLB1 | c.1704C>T (p.Asp568=) c.1311C>T (p.Asp437=) c.1614C>T (p.Asp538=) n.803C>T c.1848C>T (p.Asp616=) | ClinVar dbSNP |
| 3 | g.33014086G>C | CA351983727 | GLB1 | c.1704C>G (p.Asp568Glu) c.1311C>G (p.Asp437Glu) c.1614C>G (p.Asp538Glu) n.803C>G c.1848C>G (p.Asp616Glu) | |
| 3 | g.33014086G>T | CA351983729 | GLB1 | c.1704C>A (p.Asp568Glu) c.1311C>A (p.Asp437Glu) c.1614C>A (p.Asp538Glu) n.803C>A c.1848C>A (p.Asp616Glu) | |
| 3 | g.33014087T>A | CA351983730 | GLB1 | c.1703A>T (p.Asp568Val) c.1310A>T (p.Asp437Val) c.1613A>T (p.Asp538Val) n.802A>T c.1847A>T (p.Asp616Val) | gnomAD v4 |
| 3 | g.33014087T>C | CA351983734 | GLB1 | c.1703A>G (p.Asp568Gly) c.1310A>G (p.Asp437Gly) c.1613A>G (p.Asp538Gly) n.802A>G c.1847A>G (p.Asp616Gly) | ClinVar |
| 3 | g.33014087T>G | CA351983733 | GLB1 | c.1703A>C (p.Asp568Ala) c.1310A>C (p.Asp437Ala) c.1613A>C (p.Asp538Ala) n.802A>C c.1847A>C (p.Asp616Ala) | |
| 3 | g.33014088C>A | CA351983736 | GLB1 | c.1702G>T (p.Asp568Tyr) c.1309G>T (p.Asp437Tyr) c.1612G>T (p.Asp538Tyr) n.801G>T c.1846G>T (p.Asp616Tyr) | |
| 3 | g.33014088C>G | CA351983740 | GLB1 | c.1702G>C (p.Asp568His) c.1309G>C (p.Asp437His) c.1612G>C (p.Asp538His) n.801G>C c.1846G>C (p.Asp616His) | |
| 3 | g.33014088C>T | CA351983742 | GLB1 | c.1702G>A (p.Asp568Asn) c.1309G>A (p.Asp437Asn) c.1612G>A (p.Asp538Asn) n.801G>A c.1846G>A (p.Asp616Asn) | gnomAD v4 |
| 3 | g.33014089C>A | CA351983744 | GLB1 | c.1701G>T (p.Gln567His) c.1308G>T (p.Gln436His) c.1611G>T (p.Gln537His) n.800G>T c.1845G>T (p.Gln615His) | |
| 3 | g.33014089C>G | CA351983745 | GLB1 | c.1701G>C (p.Gln567His) c.1308G>C (p.Gln436His) c.1611G>C (p.Gln537His) n.800G>C c.1845G>C (p.Gln615His) | |
| 3 | g.33014089C>T | CA432952555 | GLB1 | c.1701G>A (p.Gln567=) c.1308G>A (p.Gln436=) c.1611G>A (p.Gln537=) n.800G>A c.1845G>A (p.Gln615=) | ClinVar dbSNP |
| 3 | g.33014090T>A | CA351983756 | GLB1 | c.1700A>T (p.Gln567Leu) c.1307A>T (p.Gln436Leu) c.1610A>T (p.Gln537Leu) n.799A>T c.1844A>T (p.Gln615Leu) | |
| 3 | g.33014090T>C | CA351983753 | GLB1 | c.1700A>G (p.Gln567Arg) c.1307A>G (p.Gln436Arg) c.1610A>G (p.Gln537Arg) n.799A>G c.1844A>G (p.Gln615Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33014090T>G | CA351983751 | GLB1 | c.1700A>C (p.Gln567Pro) c.1307A>C (p.Gln436Pro) c.1610A>C (p.Gln537Pro) n.799A>C c.1844A>C (p.Gln615Pro) | |
| 3 | g.33014090T= | CA1355984277 | GLB1 | c.1700A= (p.Gln567=) c.1307A= (p.Gln436=) c.1610A= (p.Gln537=) n.799A= c.1844A= (p.Gln615=) | |
| 3 | g.33014091G>A | CA351983760 | GLB1 | c.1699C>T (p.Gln567Ter) c.1306C>T (p.Gln436Ter) c.1609C>T (p.Gln537Ter) n.798C>T c.1843C>T (p.Gln615Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33014091G>C | CA351983764 | GLB1 | c.1699C>G (p.Gln567Glu) c.1306C>G (p.Gln436Glu) c.1609C>G (p.Gln537Glu) n.798C>G c.1843C>G (p.Gln615Glu) | |
| 3 | g.33014091G= | CA1355984278 | GLB1 | c.1699C= (p.Gln567=) c.1306C= (p.Gln436=) c.1609C= (p.Gln537=) n.798C= c.1843C= (p.Gln615=) | |
| 3 | g.33014091G>T | CA351983765 | GLB1 | c.1699C>A (p.Gln567Lys) c.1306C>A (p.Gln436Lys) c.1609C>A (p.Gln537Lys) n.798C>A c.1843C>A (p.Gln615Lys) | |
| 3 | g.33014094dup | CA645527979 | GLB1 | c.1699dup (p.Gln567ProfsTer18) c.1306dup (p.Gln436ProfsTer18) c.1609dup (p.Gln537ProfsTer18) n.798dup c.1843dup (p.Gln615ProfsTer18) c.1699dup (p.Gln567ProfsTer?) | COSMIC COSMIC |
| 3 | g.33014092G>A | CA72646063 | GLB1 | c.1698C>T (p.Pro566=) c.1305C>T (p.Pro435=) c.1608C>T (p.Pro536=) n.797C>T c.1842C>T (p.Pro614=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.33014092G>C | CA432952559 | GLB1 | c.1698C>G (p.Pro566=) c.1305C>G (p.Pro435=) c.1608C>G (p.Pro536=) n.797C>G c.1842C>G (p.Pro614=) | |
| 3 | g.33014092G= | CA1355984279 | GLB1 | c.1698C= (p.Pro566=) c.1305C= (p.Pro435=) c.1608C= (p.Pro536=) n.797C= c.1842C= (p.Pro614=) | |
| 3 | g.33014092G>T | CA432952558 | GLB1 | c.1698C>A (p.Pro566=) c.1305C>A (p.Pro435=) c.1608C>A (p.Pro536=) n.797C>A c.1842C>A (p.Pro614=) | |
| 3 | g.33014093G>A | CA351983770 | GLB1 | c.1697C>T (p.Pro566Leu) c.1304C>T (p.Pro435Leu) c.1607C>T (p.Pro536Leu) n.796C>T c.1841C>T (p.Pro614Leu) | |
| 3 | g.33014093G>C | CA351983773 | GLB1 | c.1697C>G (p.Pro566Arg) c.1304C>G (p.Pro435Arg) c.1607C>G (p.Pro536Arg) n.796C>G c.1841C>G (p.Pro614Arg) | |
| 3 | g.33014093G= | CA1355984280 | GLB1 | c.1697C= (p.Pro566=) c.1304C= (p.Pro435=) c.1607C= (p.Pro536=) n.796C= c.1841C= (p.Pro614=) | |
| 3 | g.33014093G>T | CA351983787 | GLB1 | c.1697C>A (p.Pro566His) c.1304C>A (p.Pro435His) c.1607C>A (p.Pro536His) n.796C>A c.1841C>A (p.Pro614His) | ClinVar dbSNP |
| 3 | g.33014094G>A | CA16604872 | GLB1 | c.1696C>T (p.Pro566Ser) c.1303C>T (p.Pro435Ser) c.1606C>T (p.Pro536Ser) n.795C>T c.1840C>T (p.Pro614Ser) | ClinVar dbSNP |
| 3 | g.33014094G>C | CA351983794 | GLB1 | c.1696C>G (p.Pro566Ala) c.1303C>G (p.Pro435Ala) c.1606C>G (p.Pro536Ala) n.795C>G c.1840C>G (p.Pro614Ala) | |
| 3 | g.33014094G= | CA1355984281 | GLB1 | c.1696C= (p.Pro566=) c.1303C= (p.Pro435=) c.1606C= (p.Pro536=) n.795C= c.1840C= (p.Pro614=) | |
| 3 | g.33014094G>T | CA351983792 | GLB1 | c.1696C>A (p.Pro566Thr) c.1303C>A (p.Pro435Thr) c.1606C>A (p.Pro536Thr) n.795C>A c.1840C>A (p.Pro614Thr) | |
| 3 | g.33014095C>A | CA2299327 | GLB1 | c.1695G>T (p.Leu565Phe) c.1302G>T (p.Leu434Phe) c.1605G>T (p.Leu535Phe) n.794G>T c.1839G>T (p.Leu613Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.33014095C= | CA1355984282 | GLB1 | c.1695G= (p.Leu565=) c.1302G= (p.Leu434=) c.1605G= (p.Leu535=) n.794G= c.1839G= (p.Leu613=) | |
| 3 | g.33014095C>G | CA351983798 | GLB1 | c.1695G>C (p.Leu565Phe) c.1302G>C (p.Leu434Phe) c.1605G>C (p.Leu535Phe) n.794G>C c.1839G>C (p.Leu613Phe) | |
| 3 | g.33014095C>T | CA432952564 | GLB1 | c.1695G>A (p.Leu565=) c.1302G>A (p.Leu434=) c.1605G>A (p.Leu535=) n.794G>A c.1839G>A (p.Leu613=) | gnomAD v4 |
| 3 | g.33014096A>C | CA351983799 | GLB1 | c.1694T>G (p.Leu565Trp) c.1301T>G (p.Leu434Trp) c.1604T>G (p.Leu535Trp) n.793T>G c.1838T>G (p.Leu613Trp) | |
| 3 | g.33014096A>G | CA351983806 | GLB1 | c.1694T>C (p.Leu565Ser) c.1301T>C (p.Leu434Ser) c.1604T>C (p.Leu535Ser) n.793T>C c.1838T>C (p.Leu613Ser) | |
| 3 | g.33014096A>T | CA351983809 | GLB1 | c.1694T>A (p.Leu565Ter) c.1301T>A (p.Leu434Ter) c.1604T>A (p.Leu535Ter) n.793T>A c.1838T>A (p.Leu613Ter) | |
| 3 | g.33014097A>C | CA351983814 | GLB1 | c.1693T>G (p.Leu565Val) c.1300T>G (p.Leu434Val) c.1603T>G (p.Leu535Val) n.792T>G c.1837T>G (p.Leu613Val) | |
| 3 | g.33014097A>G | CA432952566 | GLB1 | c.1693T>C (p.Leu565=) c.1300T>C (p.Leu434=) c.1603T>C (p.Leu535=) n.792T>C c.1837T>C (p.Leu613=) | |
| 3 | g.33014097A>T | CA351983818 | GLB1 | c.1693T>A (p.Leu565Met) c.1300T>A (p.Leu434Met) c.1603T>A (p.Leu535Met) n.792T>A c.1837T>A (p.Leu613Met) | |
| 3 | g.33014098G>A | CA72646112 | GLB1 | c.1692C>T (p.Asp564=) c.1299C>T (p.Asp433=) c.1602C>T (p.Asp534=) n.791C>T c.1836C>T (p.Asp612=) | ClinVar dbSNP |
| 3 | g.33014098G>C | CA351983823 | GLB1 | c.1692C>G (p.Asp564Glu) c.1299C>G (p.Asp433Glu) c.1602C>G (p.Asp534Glu) n.791C>G c.1836C>G (p.Asp612Glu) | |
| 3 | g.33014098G= | CA1355984283 | GLB1 | c.1692C= (p.Asp564=) c.1299C= (p.Asp433=) c.1602C= (p.Asp534=) n.791C= c.1836C= (p.Asp612=) | |
| 3 | g.33014098G>T | CA351983825 | GLB1 | c.1692C>A (p.Asp564Glu) c.1299C>A (p.Asp433Glu) c.1602C>A (p.Asp534Glu) n.791C>A c.1836C>A (p.Asp612Glu) | |
| 3 | g.33014099T>A | CA351983828 | GLB1 | c.1691A>T (p.Asp564Val) c.1298A>T (p.Asp433Val) c.1601A>T (p.Asp534Val) n.790A>T c.1835A>T (p.Asp612Val) | |
| 3 | g.33014099T>C | CA351983833 | GLB1 | c.1691A>G (p.Asp564Gly) c.1298A>G (p.Asp433Gly) c.1601A>G (p.Asp534Gly) n.790A>G c.1835A>G (p.Asp612Gly) | dbSNP |
| 3 | g.33014099T>G | CA351983831 | GLB1 | c.1691A>C (p.Asp564Ala) c.1298A>C (p.Asp433Ala) c.1601A>C (p.Asp534Ala) n.790A>C c.1835A>C (p.Asp612Ala) | |
| 3 | g.33014099T= | CA1355984284 | GLB1 | c.1691A= (p.Asp564=) c.1298A= (p.Asp433=) c.1601A= (p.Asp534=) n.790A= c.1835A= (p.Asp612=) | |
| 3 | g.33014100C>A | CA351983838 | GLB1 | c.1690G>T (p.Asp564Tyr) c.1297G>T (p.Asp433Tyr) c.1600G>T (p.Asp534Tyr) n.789G>T c.1834G>T (p.Asp612Tyr) | |
| 3 | g.33014100C>G | CA351983840 | GLB1 | c.1690G>C (p.Asp564His) c.1297G>C (p.Asp433His) c.1600G>C (p.Asp534His) n.789G>C c.1834G>C (p.Asp612His) | |
| 3 | g.33014100C>T | CA351983839 | GLB1 | c.1690G>A (p.Asp564Asn) c.1297G>A (p.Asp433Asn) c.1600G>A (p.Asp534Asn) n.789G>A c.1834G>A (p.Asp612Asn) | dbSNP |
| 3 | g.33014101T>A | CA432952568 | GLB1 | c.1689A>T (p.Pro563=) c.1296A>T (p.Pro432=) c.1599A>T (p.Pro533=) n.788A>T c.1833A>T (p.Pro611=) | |
| 3 | g.33014101T>C | CA432952569 | GLB1 | c.1689A>G (p.Pro563=) c.1296A>G (p.Pro432=) c.1599A>G (p.Pro533=) n.788A>G c.1833A>G (p.Pro611=) | ClinVar |
| 3 | g.33014101T>G | CA432952570 | GLB1 | c.1689A>C (p.Pro563=) c.1296A>C (p.Pro432=) c.1599A>C (p.Pro533=) n.788A>C c.1833A>C (p.Pro611=) | |
| 3 | g.33014102G>A | CA351983848 | GLB1 | c.1688C>T (p.Pro563Leu) c.1295C>T (p.Pro432Leu) c.1598C>T (p.Pro533Leu) n.787C>T c.1832C>T (p.Pro611Leu) | |
| 3 | g.33014102G>C | CA351983856 | GLB1 | c.1688C>G (p.Pro563Arg) c.1295C>G (p.Pro432Arg) c.1598C>G (p.Pro533Arg) n.787C>G c.1832C>G (p.Pro611Arg) | |
| 3 | g.33014102G>T | CA351983861 | GLB1 | c.1688C>A (p.Pro563Gln) c.1295C>A (p.Pro432Gln) c.1598C>A (p.Pro533Gln) n.787C>A c.1832C>A (p.Pro611Gln) | |
| 3 | g.33014103G>A | CA351983862 | GLB1 | c.1687C>T (p.Pro563Ser) c.1294C>T (p.Pro432Ser) c.1597C>T (p.Pro533Ser) n.786C>T c.1831C>T (p.Pro611Ser) | gnomAD v4 COSMIC COSMIC |
| 3 | g.33014103G>C | CA2299328 | GLB1 | c.1687C>G (p.Pro563Ala) c.1294C>G (p.Pro432Ala) c.1597C>G (p.Pro533Ala) n.786C>G c.1831C>G (p.Pro611Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.33014103G= | CA1355984285 | GLB1 | c.1687C= (p.Pro563=) c.1294C= (p.Pro432=) c.1597C= (p.Pro533=) n.786C= c.1831C= (p.Pro611=) | |
| 3 | g.33014103G>T | CA351983875 | GLB1 | c.1687C>A (p.Pro563Thr) c.1294C>A (p.Pro432Thr) c.1597C>A (p.Pro533Thr) n.786C>A c.1831C>A (p.Pro611Thr) | |
| 3 | g.33014104G>A | CA432952571 | GLB1 | c.1686C>T (p.Ile562=) c.1293C>T (p.Ile431=) c.1596C>T (p.Ile532=) n.785C>T c.1830C>T (p.Ile610=) | |
| 3 | g.33014104G>C | CA351983882 | GLB1 | c.1686C>G (p.Ile562Met) c.1293C>G (p.Ile431Met) c.1596C>G (p.Ile532Met) n.785C>G c.1830C>G (p.Ile610Met) | |
| 3 | g.33014104G= | CA1355984286 | GLB1 | c.1686C= (p.Ile562=) c.1293C= (p.Ile431=) c.1596C= (p.Ile532=) n.785C= c.1830C= (p.Ile610=) | |
| 3 | g.33014104G>T | CA432952572 | GLB1 | c.1686C>A (p.Ile562=) c.1293C>A (p.Ile431=) c.1596C>A (p.Ile532=) n.785C>A c.1830C>A (p.Ile610=) | |
| 3 | g.33014105A>C | CA351983892 | GLB1 | c.1685T>G (p.Ile562Ser) c.1292T>G (p.Ile431Ser) c.1595T>G (p.Ile532Ser) n.784T>G c.1829T>G (p.Ile610Ser) | |
| 3 | g.33014105A>G | CA351983893 | GLB1 | c.1685T>C (p.Ile562Thr) c.1292T>C (p.Ile431Thr) c.1595T>C (p.Ile532Thr) n.784T>C c.1829T>C (p.Ile610Thr) | |
| 3 | g.33014105A>T | CA351983896 | GLB1 | c.1685T>A (p.Ile562Asn) c.1292T>A (p.Ile431Asn) c.1595T>A (p.Ile532Asn) n.784T>A c.1829T>A (p.Ile610Asn) | |
| 3 | g.33014105dup | CA1139657922 | GLB1 | c.1685dup (p.Asp564ArgfsTer21) c.1292dup (p.Asp433ArgfsTer21) c.1595dup (p.Asp534ArgfsTer21) n.784dup c.1829dup (p.Asp612ArgfsTer21) c.1685dup (p.Asp564ArgfsTer?) | ClinVar dbSNP |
| 3 | g.33014106T>A | CA351983912 | GLB1 | c.1684A>T (p.Ile562Phe) c.1291A>T (p.Ile431Phe) c.1594A>T (p.Ile532Phe) n.783A>T c.1828A>T (p.Ile610Phe) | |
| 3 | g.33014106T>C | CA351983911 | GLB1 | c.1684A>G (p.Ile562Val) c.1291A>G (p.Ile431Val) c.1594A>G (p.Ile532Val) n.783A>G c.1828A>G (p.Ile610Val) | |
| 3 | g.33014106T>G | CA351983910 | GLB1 | c.1684A>C (p.Ile562Leu) c.1291A>C (p.Ile431Leu) c.1594A>C (p.Ile532Leu) n.783A>C c.1828A>C (p.Ile610Leu) | |
| 3 | g.33014107C>A | CA432952575 | GLB1 | c.1683G>T (p.Gly561=) c.1290G>T (p.Gly430=) c.1593G>T (p.Gly531=) n.782G>T c.1827G>T (p.Gly609=) | |
| 3 | g.33014107C= | CA1355984287 | GLB1 | c.1683G= (p.Gly561=) c.1290G= (p.Gly430=) c.1593G= (p.Gly531=) n.782G= c.1827G= (p.Gly609=) | |
| 3 | g.33014107C>G | CA432952576 | GLB1 | c.1683G>C (p.Gly561=) c.1290G>C (p.Gly430=) c.1593G>C (p.Gly531=) n.782G>C c.1827G>C (p.Gly609=) | |
| 3 | g.33014107C>T | CA72646123 | GLB1 | c.1683G>A (p.Gly561=) c.1290G>A (p.Gly430=) c.1593G>A (p.Gly531=) n.782G>A c.1827G>A (p.Gly609=) | dbSNP gnomAD v4 COSMIC COSMIC |