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 |
|---|---|---|---|---|---|
| 12 | g.121857345C>A | CA387001951 | HPD,TIALD | c.181G>T (p.Val61Leu) n.537G>T n.239G>T c.64G>T (p.Val22Leu) n.324-274C>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121857345C= | CA2068102299 | HPD,TIALD | c.181G= (p.Val61=) n.537G= n.239G= c.64G= (p.Val22=) n.324-274C= | |
| 12 | g.121857345C>G | CA387001955 | HPD,TIALD | c.181G>C (p.Val61Leu) n.537G>C n.239G>C c.64G>C (p.Val22Leu) n.324-274C>G | |
| 12 | g.121857345C>T | CA387001958 | HPD,TIALD | c.181G>A (p.Val61Ile) n.537G>A n.239G>A c.64G>A (p.Val22Ile) n.324-274C>T | |
| 12 | g.121857346A>C | CA387001965 | HPD,TIALD | c.180T>G (p.His60Gln) n.536T>G n.238T>G c.63T>G (p.His21Gln) n.324-273A>C | |
| 12 | g.121857346A>G | CA482174887 | HPD,TIALD | c.180T>C (p.His60=) n.536T>C n.238T>C c.63T>C (p.His21=) n.324-273A>G | gnomAD v4 |
| 12 | g.121857346A>T | CA387001961 | HPD,TIALD | c.180T>A (p.His60Gln) n.536T>A n.238T>A c.63T>A (p.His21Gln) n.324-273A>T | |
| 12 | g.121857347T>A | CA387001969 | HPD,TIALD | c.179A>T (p.His60Leu) n.535A>T n.237A>T c.62A>T (p.His21Leu) n.324-272T>A | |
| 12 | g.121857347T>C | CA6839796 | HPD,TIALD | c.179A>G (p.His60Arg) n.535A>G n.237A>G c.62A>G (p.His21Arg) n.324-272T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121857347T>G | CA387001974 | HPD,TIALD | c.179A>C (p.His60Pro) n.535A>C n.237A>C c.62A>C (p.His21Pro) n.324-272T>G | |
| 12 | g.121857347T= | CA2068102305 | HPD,TIALD | c.179A= (p.His60=) n.535A= n.237A= c.62A= (p.His21=) n.324-272T= | |
| 12 | g.121857348G>A | CA387001978 | HPD,TIALD | c.178C>T (p.His60Tyr) n.534C>T n.236C>T c.61C>T (p.His21Tyr) n.324-271G>A | |
| 12 | g.121857348G>C | CA387001980 | HPD,TIALD | c.178C>G (p.His60Asp) n.534C>G n.236C>G c.61C>G (p.His21Asp) n.324-271G>C | |
| 12 | g.121857348G>T | CA387001983 | HPD,TIALD | c.178C>A (p.His60Asn) n.534C>A n.236C>A c.61C>A (p.His21Asn) n.324-271G>T | |
| 12 | g.121857349G>A | CA482174904 | HPD,TIALD | c.177C>T (p.Ser59=) n.533C>T n.235C>T c.60C>T (p.Ser20=) n.324-270G>A | |
| 12 | g.121857349G>C | CA387001989 | HPD,TIALD | c.177C>G (p.Ser59Arg) n.533C>G n.235C>G c.60C>G (p.Ser20Arg) n.324-270G>C | |
| 12 | g.121857349G>T | CA387001992 | HPD,TIALD | c.177C>A (p.Ser59Arg) n.533C>A n.235C>A c.60C>A (p.Ser20Arg) n.324-270G>T | |
| 12 | g.121857350C>A | CA387001995 | HPD,TIALD | c.176G>T (p.Ser59Ile) n.532G>T n.234G>T c.59G>T (p.Ser20Ile) n.324-269C>A | |
| 12 | g.121857350C>G | CA387001998 | HPD,TIALD | c.176G>C (p.Ser59Thr) n.532G>C n.234G>C c.59G>C (p.Ser20Thr) n.324-269C>G | |
| 12 | g.121857350C>T | CA387002001 | HPD,TIALD | c.176G>A (p.Ser59Asn) n.532G>A n.234G>A c.59G>A (p.Ser20Asn) n.324-269C>T | |
| 12 | g.121857351T>A | CA387002007 | HPD,TIALD | c.175A>T (p.Ser59Cys) n.531A>T n.233A>T c.58A>T (p.Ser20Cys) n.324-268T>A | |
| 12 | g.121857351T>C | CA387002010 | HPD,TIALD | c.175A>G (p.Ser59Gly) n.531A>G n.233A>G c.58A>G (p.Ser20Gly) n.324-268T>C | |
| 12 | g.121857351T>G | CA387002005 | HPD,TIALD | c.175A>C (p.Ser59Arg) n.531A>C n.233A>C c.58A>C (p.Ser20Arg) n.324-268T>G | |
| 12 | g.121857352G>A | CA482174916 | HPD,TIALD | c.174C>T (p.Val58=) n.530C>T n.232C>T c.57C>T (p.Val19=) n.324-267G>A | dbSNP |
| 12 | g.121857352G>C | CA482174918 | HPD,TIALD | c.174C>G (p.Val58=) n.530C>G n.232C>G c.57C>G (p.Val19=) n.324-267G>C | |
| 12 | g.121857352G= | CA2068102313 | HPD,TIALD | c.174C= (p.Val58=) n.530C= n.232C= c.57C= (p.Val19=) n.324-267G= | |
| 12 | g.121857352G>T | CA482174921 | HPD,TIALD | c.174C>A (p.Val58=) n.530C>A n.232C>A c.57C>A (p.Val19=) n.324-267G>T | gnomAD v4 |
| 12 | g.121857353A= | CA2068102318 | HPD,TIALD | c.173T= (p.Val58=) n.529T= n.231T= c.56T= (p.Val19=) n.324-266A= | |
| 12 | g.121857353A>C | CA387002013 | HPD,TIALD | c.173T>G (p.Val58Gly) n.529T>G n.231T>G c.56T>G (p.Val19Gly) n.324-266A>C | |
| 12 | g.121857353A>G | CA387002016 | HPD,TIALD | c.173T>C (p.Val58Ala) n.529T>C n.231T>C c.56T>C (p.Val19Ala) n.324-266A>G | |
| 12 | g.121857353A>T | CA387002020 | HPD,TIALD | c.173T>A (p.Val58Asp) n.529T>A n.231T>A c.56T>A (p.Val19Asp) n.324-266A>T | dbSNP |
| 12 | g.121857354C>A | CA387002025 | HPD,TIALD | c.172G>T (p.Val58Phe) n.528G>T n.230G>T c.55G>T (p.Val19Phe) n.324-265C>A | |
| 12 | g.121857354C>G | CA387002028 | HPD,TIALD | c.172G>C (p.Val58Leu) n.528G>C n.230G>C c.55G>C (p.Val19Leu) n.324-265C>G | |
| 12 | g.121857354C>T | CA387002030 | HPD,TIALD | c.172G>A (p.Val58Ile) n.528G>A n.230G>A c.55G>A (p.Val19Ile) n.324-265C>T | |
| 12 | g.121857355C>A | CA482174934 | HPD,TIALD | c.171G>T (p.Val57=) n.527G>T n.229G>T c.54G>T (p.Val18=) n.324-264C>A | |
| 12 | g.121857355C= | CA2068102322 | HPD,TIALD | c.171G= (p.Val57=) n.527G= n.229G= c.54G= (p.Val18=) n.324-264C= | |
| 12 | g.121857355C>G | CA482174937 | HPD,TIALD | c.171G>C (p.Val57=) n.527G>C n.229G>C c.54G>C (p.Val18=) n.324-264C>G | |
| 12 | g.121857355C>T | CA6839797 | HPD,TIALD | c.171G>A (p.Val57=) n.527G>A n.229G>A c.54G>A (p.Val18=) n.324-264C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121857356A= | CA2068102326 | HPD,TIALD | c.170T= (p.Val57=) n.526T= n.228T= c.53T= (p.Val18=) n.324-263A= | |
| 12 | g.121857356A>C | CA244621279 | HPD,TIALD | c.170T>G (p.Val57Gly) n.526T>G n.228T>G c.53T>G (p.Val18Gly) n.324-263A>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121857356A>G | CA387002040 | HPD,TIALD | c.170T>C (p.Val57Ala) n.526T>C n.228T>C c.53T>C (p.Val18Ala) n.324-263A>G | |
| 12 | g.121857356A>T | CA387002043 | HPD,TIALD | c.170T>A (p.Val57Glu) n.526T>A n.228T>A c.53T>A (p.Val18Glu) n.324-263A>T | |
| 12 | g.121857357C>A | CA387002047 | HPD,TIALD | c.169G>T (p.Val57Leu) n.525G>T n.227G>T c.52G>T (p.Val18Leu) n.324-262C>A | |
| 12 | g.121857357C>G | CA387002049 | HPD,TIALD | c.169G>C (p.Val57Leu) n.525G>C n.227G>C c.52G>C (p.Val18Leu) n.324-262C>G | |
| 12 | g.121857357C>T | CA387002052 | HPD,TIALD | c.169G>A (p.Val57Met) n.525G>A n.227G>A c.52G>A (p.Val18Met) n.324-262C>T | gnomAD v4 |
| 12 | g.121857358C>A | CA387002055 | HPD,TIALD | c.168G>T (p.Glu56Asp) n.524G>T n.226G>T c.51G>T (p.Glu17Asp) n.324-261C>A | |
| 12 | g.121857358C= | CA2068102330 | HPD,TIALD | c.168G= (p.Glu56=) n.524G= n.226G= c.51G= (p.Glu17=) n.324-261C= | |
| 12 | g.121857358C>G | CA387002057 | HPD,TIALD | c.168G>C (p.Glu56Asp) n.524G>C n.226G>C c.51G>C (p.Glu17Asp) n.324-261C>G | |
| 12 | g.121857358C>T | CA482174951 | HPD,TIALD | c.168G>A (p.Glu56=) n.524G>A n.226G>A c.51G>A (p.Glu17=) n.324-261C>T | ClinVar dbSNP COSMIC |
| 12 | g.121857359del | CA2575327665 | HPD,TIALD | c.167del (p.Glu56GlyfsTer6) n.523del n.225del c.50del (p.Glu17GlyfsTer6) n.324-260del |