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.150941656A= | CA1410888498 | CLRN1 | c.359T= (p.Met120=) c.507T= (p.His169=) c.351T= (n.351T=) c.131T= (p.Met44=) n.365T= c.23T= (p.Met8=) c.30T= c.88T= c.531T= (p.His177=) n.801T= n.671T= n.529T= | |
| 3 | g.150941656A>C | CA354955548 | CLRN1 | c.359T>G (p.Met120Arg) c.507T>G (p.His169Gln) c.351T>G (n.351T>G) c.131T>G (p.Met44Arg) n.365T>G c.23T>G (p.Met8Arg) c.30T>G c.88T>G c.531T>G (p.His177Gln) n.801T>G n.671T>G n.529T>G | |
| 3 | g.150941656A>G | CA2666080 | CLRN1 | c.359T>C (p.Met120Thr) c.507T>C (p.His169=) c.351T>C (n.351T>C) c.131T>C (p.Met44Thr) n.365T>C c.23T>C (p.Met8Thr) c.30T>C c.88T>C c.531T>C (p.His177=) n.801T>C n.671T>C n.529T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.150941656A>T | CA116819 | CLRN1 | c.359T>A (p.Met120Lys) c.507T>A (p.His169Gln) c.351T>A (n.351T>A) c.131T>A (p.Met44Lys) n.365T>A c.23T>A (p.Met8Lys) c.30T>A c.88T>A c.531T>A (p.His177Gln) n.801T>A n.671T>A n.529T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.150941656_150941666delinsATGAAGAAGGC | CA1410888499 | CLRN1 | c.349_359delinsGCCTTCTTCAT (p.Ala117=) c.497_507delinsGCCTTCTTCAT (p.Ser166=) c.341_351delinsGCCTTCTTCAT (n.341_351delinsGCCTTCTTCAT) c.121_131delinsGCCTTCTTCAT (p.Ala41=) n.355_365delinsGCCTTCTTCAT c.13_23delinsGCCTTCTTCAT (p.Ala5=) c.20_30delinsGCCTTCTTCAT c.78_88delinsGCCTTCTTCAT c.521_531delinsGCCTTCTTCAT (p.Ser174=) n.791_801delinsGCCTTCTTCAT n.661_671delinsGCCTTCTTCAT n.519_529delinsGCCTTCTTCAT | |
| 3 | g.150941657T>A | CA354955554 | CLRN1 | c.358A>T (p.Met120Leu) c.506A>T (p.His169Leu) c.350A>T (n.350A>T) c.130A>T (p.Met44Leu) n.364A>T c.22A>T (p.Met8Leu) c.29A>T c.87A>T c.530A>T (p.His177Leu) n.800A>T n.670A>T n.528A>T | |
| 3 | g.150941657T>C | CA354955557 | CLRN1 | c.358A>G (p.Met120Val) c.506A>G (p.His169Arg) c.350A>G (n.350A>G) c.130A>G (p.Met44Val) n.364A>G c.22A>G (p.Met8Val) c.29A>G c.87A>G c.530A>G (p.His177Arg) n.800A>G n.670A>G n.528A>G | gnomAD v4 |
| 3 | g.150941657T>G | CA354955559 | CLRN1 | c.358A>C (p.Met120Leu) c.506A>C (p.His169Pro) c.350A>C (n.350A>C) c.130A>C (p.Met44Leu) n.364A>C c.22A>C (p.Met8Leu) c.29A>C c.87A>C c.530A>C (p.His177Pro) n.800A>C n.670A>C n.528A>C | |
| 3 | g.150941659_150941668del | CA915941604 | CLRN1 | c.349_358del (p.Ala117CysfsTer16) c.497_506del (p.Ser166MetfsTer?) c.341_350del (n.341_350del) c.121_130del (p.Ala41CysfsTer16) n.355_364del c.13_22del (p.Ala5CysfsTer16) c.20_29del c.78_87del c.521_530del (p.Ser174MetfsTer?) n.791_800del n.661_670del n.519_528del | ClinVar dbSNP |
| 3 | g.150941658G>A | CA436265296 | CLRN1 | c.357C>T (p.Phe119=) c.505C>T (p.His169Tyr) c.349C>T (n.349C>T) c.129C>T (p.Phe43=) n.363C>T c.21C>T (p.Phe7=) c.28C>T c.86C>T c.529C>T (p.His177Tyr) n.799C>T n.669C>T n.527C>T | ClinVar dbSNP |
| 3 | g.150941658G>C | CA354955561 | CLRN1 | c.357C>G (p.Phe119Leu) c.505C>G (p.His169Asp) c.349C>G (n.349C>G) c.129C>G (p.Phe43Leu) n.363C>G c.21C>G (p.Phe7Leu) c.28C>G c.86C>G c.529C>G (p.His177Asp) n.799C>G n.669C>G n.527C>G | |
| 3 | g.150941658G>T | CA354955563 | CLRN1 | c.357C>A (p.Phe119Leu) c.505C>A (p.His169Asn) c.349C>A (n.349C>A) c.129C>A (p.Phe43Leu) n.363C>A c.21C>A (p.Phe7Leu) c.28C>A c.86C>A c.529C>A (p.His177Asn) n.799C>A n.669C>A n.527C>A | gnomAD v4 |
| 3 | g.150941659A= | CA1410888500 | CLRN1 | c.356T= (p.Phe119=) c.504T= (p.Leu168=) c.348T= (n.348T=) c.128T= (p.Phe43=) n.362T= c.20T= (p.Phe7=) c.27T= c.85T= c.528T= (p.Leu176=) n.798T= n.668T= n.526T= | |
| 3 | g.150941659A>C | CA354955566 | CLRN1 | c.356T>G (p.Phe119Cys) c.504T>G (p.Leu168=) c.348T>G (n.348T>G) c.128T>G (p.Phe43Cys) n.362T>G c.20T>G (p.Phe7Cys) c.27T>G c.85T>G c.528T>G (p.Leu176=) n.798T>G n.668T>G n.526T>G | |
| 3 | g.150941659A>G | CA2666081 | CLRN1 | c.356T>C (p.Phe119Ser) c.504T>C (p.Leu168=) c.348T>C (n.348T>C) c.128T>C (p.Phe43Ser) n.362T>C c.20T>C (p.Phe7Ser) c.27T>C c.85T>C c.528T>C (p.Leu176=) n.798T>C n.668T>C n.526T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.150941659A>T | CA354955571 | CLRN1 | c.356T>A (p.Phe119Tyr) c.504T>A (p.Leu168=) c.348T>A (n.348T>A) c.128T>A (p.Phe43Tyr) n.362T>A c.20T>A (p.Phe7Tyr) c.27T>A c.85T>A c.528T>A (p.Leu176=) n.798T>A n.668T>A n.526T>A | |
| 3 | g.150941660A>C | CA354955578 | CLRN1 | c.355T>G (p.Phe119Val) c.503T>G (p.Leu168Arg) c.347T>G (n.347T>G) c.127T>G (p.Phe43Val) n.361T>G c.19T>G (p.Phe7Val) c.26T>G c.84T>G c.527T>G (p.Leu176Arg) n.797T>G n.667T>G n.525T>G | |
| 3 | g.150941660A>G | CA354955572 | CLRN1 | c.355T>C (p.Phe119Leu) c.503T>C (p.Leu168Pro) c.347T>C (n.347T>C) c.127T>C (p.Phe43Leu) n.361T>C c.19T>C (p.Phe7Leu) c.26T>C c.84T>C c.527T>C (p.Leu176Pro) n.797T>C n.667T>C n.525T>C | |
| 3 | g.150941660A>T | CA354955575 | CLRN1 | c.355T>A (p.Phe119Ile) c.503T>A (p.Leu168His) c.347T>A (n.347T>A) c.127T>A (p.Phe43Ile) n.361T>A c.19T>A (p.Phe7Ile) c.26T>A c.84T>A c.527T>A (p.Leu176His) n.797T>A n.667T>A n.525T>A | |
| 3 | g.150941661G>A | CA436265299 | CLRN1 | c.354C>T (p.Phe118=) c.502C>T (p.Leu168Phe) c.346C>T (n.346C>T) c.126C>T (p.Phe42=) n.360C>T c.18C>T (p.Phe6=) c.25C>T c.83C>T c.526C>T (p.Leu176Phe) n.796C>T n.666C>T n.524C>T | |
| 3 | g.150941661G>C | CA354955581 | CLRN1 | c.354C>G (p.Phe118Leu) c.502C>G (p.Leu168Val) c.346C>G (n.346C>G) c.126C>G (p.Phe42Leu) n.360C>G c.18C>G (p.Phe6Leu) c.25C>G c.83C>G c.526C>G (p.Leu176Val) n.796C>G n.666C>G n.524C>G | |
| 3 | g.150941661G>T | CA354955584 | CLRN1 | c.354C>A (p.Phe118Leu) c.502C>A (p.Leu168Ile) c.346C>A (n.346C>A) c.126C>A (p.Phe42Leu) n.360C>A c.18C>A (p.Phe6Leu) c.25C>A c.83C>A c.526C>A (p.Leu176Ile) n.796C>A n.666C>A n.524C>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.150941662A>C | CA354955586 | CLRN1 | c.353T>G (p.Phe118Cys) c.501T>G (p.Leu167=) c.345T>G (n.345T>G) c.125T>G (p.Phe42Cys) n.359T>G c.17T>G (p.Phe6Cys) c.24T>G c.82T>G c.525T>G (p.Leu175=) n.795T>G n.665T>G n.523T>G | |
| 3 | g.150941662A>G | CA354955587 | CLRN1 | c.353T>C (p.Phe118Ser) c.501T>C (p.Leu167=) c.345T>C (n.345T>C) c.125T>C (p.Phe42Ser) n.359T>C c.17T>C (p.Phe6Ser) c.24T>C c.82T>C c.525T>C (p.Leu175=) n.795T>C n.665T>C n.523T>C | |
| 3 | g.150941662A>T | CA354955591 | CLRN1 | c.353T>A (p.Phe118Tyr) c.501T>A (p.Leu167=) c.345T>A (n.345T>A) c.125T>A (p.Phe42Tyr) n.359T>A c.17T>A (p.Phe6Tyr) c.24T>A c.82T>A c.525T>A (p.Leu175=) n.795T>A n.665T>A n.523T>A | |
| 3 | g.150941663A>C | CA354955595 | CLRN1 | c.352T>G (p.Phe118Val) c.500T>G (p.Leu167Arg) c.344T>G (n.344T>G) c.124T>G (p.Phe42Val) n.358T>G c.16T>G (p.Phe6Val) c.23T>G c.81T>G c.524T>G (p.Leu175Arg) n.794T>G n.664T>G n.522T>G | gnomAD v4 |
| 3 | g.150941663A>G | CA354955598 | CLRN1 | c.352T>C (p.Phe118Leu) c.500T>C (p.Leu167Pro) c.344T>C (n.344T>C) c.124T>C (p.Phe42Leu) n.358T>C c.16T>C (p.Phe6Leu) c.23T>C c.81T>C c.524T>C (p.Leu175Pro) n.794T>C n.664T>C n.522T>C | |
| 3 | g.150941663A>T | CA354955601 | CLRN1 | c.352T>A (p.Phe118Ile) c.500T>A (p.Leu167His) c.344T>A (n.344T>A) c.124T>A (p.Phe42Ile) n.358T>A c.16T>A (p.Phe6Ile) c.23T>A c.81T>A c.524T>A (p.Leu175His) n.794T>A n.664T>A n.522T>A | |
| 3 | g.150941664G>A | CA436265302 | CLRN1 | c.351C>T (p.Ala117=) c.499C>T (p.Leu167Phe) c.343C>T (n.343C>T) c.123C>T (p.Ala41=) n.357C>T c.15C>T (p.Ala5=) c.22C>T c.80C>T c.523C>T (p.Leu175Phe) n.793C>T n.663C>T n.521C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.150941664G>C | CA436265303 | CLRN1 | c.351C>G (p.Ala117=) c.499C>G (p.Leu167Val) c.343C>G (n.343C>G) c.123C>G (p.Ala41=) n.357C>G c.15C>G (p.Ala5=) c.22C>G c.80C>G c.523C>G (p.Leu175Val) n.793C>G n.663C>G n.521C>G | |
| 3 | g.150941664G= | CA1410888501 | CLRN1 | c.351C= (p.Ala117=) c.499C= (p.Leu167=) c.343C= (n.343C=) c.123C= (p.Ala41=) n.357C= c.15C= (p.Ala5=) c.22C= c.80C= c.523C= (p.Leu175=) n.793C= n.663C= n.521C= | |
| 3 | g.150941664G>T | CA436265304 | CLRN1 | c.351C>A (p.Ala117=) c.499C>A (p.Leu167Ile) c.343C>A (n.343C>A) c.123C>A (p.Ala41=) n.357C>A c.15C>A (p.Ala5=) c.22C>A c.80C>A c.523C>A (p.Leu175Ile) n.793C>A n.663C>A n.521C>A | COSMIC COSMIC |
| 3 | g.150941665G>A | CA85691691 | CLRN1 | c.350C>T (p.Ala117Val) c.498C>T (p.Ser166=) c.342C>T (n.342C>T) c.122C>T (p.Ala41Val) n.356C>T c.14C>T (p.Ala5Val) c.21C>T c.79C>T c.522C>T (p.Ser174=) n.792C>T n.662C>T n.520C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.150941665G>C | CA354955604 | CLRN1 | c.350C>G (p.Ala117Gly) c.498C>G (p.Ser166Arg) c.342C>G (n.342C>G) c.122C>G (p.Ala41Gly) n.356C>G c.14C>G (p.Ala5Gly) c.21C>G c.79C>G c.522C>G (p.Ser174Arg) n.792C>G n.662C>G n.520C>G | |
| 3 | g.150941665G= | CA1410888502 | CLRN1 | c.350C= (p.Ala117=) c.498C= (p.Ser166=) c.342C= (n.342C=) c.122C= (p.Ala41=) n.356C= c.14C= (p.Ala5=) c.21C= c.79C= c.522C= (p.Ser174=) n.792C= n.662C= n.520C= | |
| 3 | g.150941665G>T | CA354955606 | CLRN1 | c.350C>A (p.Ala117Asp) c.498C>A (p.Ser166Arg) c.342C>A (n.342C>A) c.122C>A (p.Ala41Asp) n.356C>A c.14C>A (p.Ala5Asp) c.21C>A c.79C>A c.522C>A (p.Ser174Arg) n.792C>A n.662C>A n.520C>A | gnomAD v4 |
| 3 | g.150941666C>A | CA354955608 | CLRN1 | c.349G>T (p.Ala117Ser) c.497G>T (p.Ser166Ile) c.341G>T (n.341G>T) c.121G>T (p.Ala41Ser) n.355G>T c.13G>T (p.Ala5Ser) c.20G>T c.78G>T c.521G>T (p.Ser174Ile) n.791G>T n.661G>T n.519G>T | |
| 3 | g.150941666C= | CA1410888503 | CLRN1 | c.349G= (p.Ala117=) c.497G= (p.Ser166=) c.341G= (n.341G=) c.121G= (p.Ala41=) n.355G= c.13G= (p.Ala5=) c.20G= c.78G= c.521G= (p.Ser174=) n.791G= n.661G= n.519G= | |
| 3 | g.150941666C>G | CA354955610 | CLRN1 | c.349G>C (p.Ala117Pro) c.497G>C (p.Ser166Thr) c.341G>C (n.341G>C) c.121G>C (p.Ala41Pro) n.355G>C c.13G>C (p.Ala5Pro) c.20G>C c.78G>C c.521G>C (p.Ser174Thr) n.791G>C n.661G>C n.519G>C | |
| 3 | g.150941666C>T | CA354955625 | CLRN1 | c.349G>A (p.Ala117Thr) c.497G>A (p.Ser166Asn) c.341G>A (n.341G>A) c.121G>A (p.Ala41Thr) n.355G>A c.13G>A (p.Ala5Thr) c.20G>A c.78G>A c.521G>A (p.Ser174Asn) n.791G>A n.661G>A n.519G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.150941667T>A | CA436265306 | CLRN1 | c.348A>T (p.Thr116=) c.496A>T (p.Ser166Cys) c.340A>T (n.340A>T) c.120A>T (p.Thr40=) n.354A>T c.12A>T (p.Thr4=) c.19A>T c.77A>T c.520A>T (p.Ser174Cys) n.790A>T n.660A>T n.518A>T | |
| 3 | g.150941667T>C | CA436265307 | CLRN1 | c.348A>G (p.Thr116=) c.496A>G (p.Ser166Gly) c.340A>G (n.340A>G) c.120A>G (p.Thr40=) n.354A>G c.12A>G (p.Thr4=) c.19A>G c.77A>G c.520A>G (p.Ser174Gly) n.790A>G n.660A>G n.518A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.150941667T>G | CA436265309 | CLRN1 | c.348A>C (p.Thr116=) c.496A>C (p.Ser166Arg) c.340A>C (n.340A>C) c.120A>C (p.Thr40=) n.354A>C c.12A>C (p.Thr4=) c.19A>C c.77A>C c.520A>C (p.Ser174Arg) n.790A>C n.660A>C n.518A>C | |
| 3 | g.150941667T= | CA1410888504 | CLRN1 | c.348A= (p.Thr116=) c.496A= (p.Ser166=) c.340A= (n.340A=) c.120A= (p.Thr40=) n.354A= c.12A= (p.Thr4=) c.19A= c.77A= c.520A= (p.Ser174=) n.790A= n.660A= n.518A= | |
| 3 | g.150941668G>A | CA354955632 | CLRN1 | c.347C>T (p.Thr116Ile) c.495C>T (p.Asp165=) c.339C>T (n.339C>T) c.119C>T (p.Thr40Ile) n.353C>T c.11C>T (p.Thr4Ile) c.18C>T c.76C>T c.519C>T (p.Asp173=) n.789C>T n.659C>T n.517C>T | |
| 3 | g.150941668G>C | CA354955630 | CLRN1 | c.347C>G (p.Thr116Arg) c.495C>G (p.Asp165Glu) c.339C>G (n.339C>G) c.119C>G (p.Thr40Arg) n.353C>G c.11C>G (p.Thr4Arg) c.18C>G c.76C>G c.519C>G (p.Asp173Glu) n.789C>G n.659C>G n.517C>G | dbSNP gnomAD v4 |
| 3 | g.150941668G>T | CA354955628 | CLRN1 | c.347C>A (p.Thr116Lys) c.495C>A (p.Asp165Glu) c.339C>A (n.339C>A) c.119C>A (p.Thr40Lys) n.353C>A c.11C>A (p.Thr4Lys) c.18C>A c.76C>A c.519C>A (p.Asp173Glu) n.789C>A n.659C>A n.517C>A | |
| 3 | g.150941669T>A | CA354955635 | CLRN1 | c.346A>T (p.Thr116Ser) c.494A>T (p.Asp165Val) c.338A>T (n.338A>T) c.118A>T (p.Thr40Ser) n.352A>T c.10A>T (p.Thr4Ser) c.17A>T c.75A>T c.518A>T (p.Asp173Val) n.788A>T n.658A>T n.516A>T | |
| 3 | g.150941669T>C | CA354955638 | CLRN1 | c.346A>G (p.Thr116Ala) c.494A>G (p.Asp165Gly) c.338A>G (n.338A>G) c.118A>G (p.Thr40Ala) n.352A>G c.10A>G (p.Thr4Ala) c.17A>G c.75A>G c.518A>G (p.Asp173Gly) n.788A>G n.658A>G n.516A>G | |
| 3 | g.150941669T>G | CA354955641 | CLRN1 | c.346A>C (p.Thr116Pro) c.494A>C (p.Asp165Ala) c.338A>C (n.338A>C) c.118A>C (p.Thr40Pro) n.352A>C c.10A>C (p.Thr4Pro) c.17A>C c.75A>C c.518A>C (p.Asp173Ala) n.788A>C n.658A>C n.516A>C |