WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.74893206G>A | CA393174443 | MPI | c.556G>A (p.Asp186Asn) c.487+404G>A (n.487+404G>A) c.406G>A (p.Asp136Asn) c.*452G>A (n.*452G>A) c.496G>A (p.Asp166Asn) c.255+1717G>A (n.255+1717G>A) c.337+404G>A (n.337+404G>A) c.514G>A (p.Asp172Asn) c.448+404G>A (n.448+404G>A) c.520G>A (p.Asp174Asn) c.466G>A (p.Asp156Asn) c.544G>A (p.Asp182Asn) | COSMIC |
| 15 | g.74893206G>C | CA393174446 | MPI | c.556G>C (p.Asp186His) c.487+404G>C (n.487+404G>C) c.406G>C (p.Asp136His) c.*452G>C (n.*452G>C) c.496G>C (p.Asp166His) c.255+1717G>C (n.255+1717G>C) c.337+404G>C (n.337+404G>C) c.514G>C (p.Asp172His) c.448+404G>C (n.448+404G>C) c.520G>C (p.Asp174His) c.466G>C (p.Asp156His) c.544G>C (p.Asp182His) | |
| 15 | g.74893206G= | CA2187897271 | MPI | c.556G= (p.Asp186=) c.487+404G= (n.487+404G=) c.406G= (p.Asp136=) c.*452G= (n.*452G=) c.496G= (p.Asp166=) c.255+1717G= (n.255+1717G=) c.337+404G= (n.337+404G=) c.514G= (p.Asp172=) c.448+404G= (n.448+404G=) c.520G= (p.Asp174=) c.466G= (p.Asp156=) c.544G= (p.Asp182=) | |
| 15 | g.74893206G>T | CA7662462 | MPI | c.556G>T (p.Asp186Tyr) c.487+404G>T (n.487+404G>T) c.406G>T (p.Asp136Tyr) c.*452G>T (n.*452G>T) c.496G>T (p.Asp166Tyr) c.255+1717G>T (n.255+1717G>T) c.337+404G>T (n.337+404G>T) c.514G>T (p.Asp172Tyr) c.448+404G>T (n.448+404G>T) c.520G>T (p.Asp174Tyr) c.466G>T (p.Asp156Tyr) c.544G>T (p.Asp182Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74893207A>C | CA393174449 | MPI | c.557A>C (p.Asp186Ala) c.487+405A>C (n.487+405A>C) c.407A>C (p.Asp136Ala) c.*453A>C (n.*453A>C) c.497A>C (p.Asp166Ala) c.255+1718A>C (n.255+1718A>C) c.337+405A>C (n.337+405A>C) c.515A>C (p.Asp172Ala) c.448+405A>C (n.448+405A>C) c.521A>C (p.Asp174Ala) c.467A>C (p.Asp156Ala) c.545A>C (p.Asp182Ala) | |
| 15 | g.74893207A>G | CA393174455 | MPI | c.557A>G (p.Asp186Gly) c.487+405A>G (n.487+405A>G) c.407A>G (p.Asp136Gly) c.*453A>G (n.*453A>G) c.497A>G (p.Asp166Gly) c.255+1718A>G (n.255+1718A>G) c.337+405A>G (n.337+405A>G) c.515A>G (p.Asp172Gly) c.448+405A>G (n.448+405A>G) c.521A>G (p.Asp174Gly) c.467A>G (p.Asp156Gly) c.545A>G (p.Asp182Gly) | |
| 15 | g.74893207A>T | CA393174452 | MPI | c.557A>T (p.Asp186Val) c.487+405A>T (n.487+405A>T) c.407A>T (p.Asp136Val) c.*453A>T (n.*453A>T) c.497A>T (p.Asp166Val) c.255+1718A>T (n.255+1718A>T) c.337+405A>T (n.337+405A>T) c.515A>T (p.Asp172Val) c.448+405A>T (n.448+405A>T) c.521A>T (p.Asp174Val) c.467A>T (p.Asp156Val) c.545A>T (p.Asp182Val) | |
| 15 | g.74893208C>A | CA393174457 | MPI | c.558C>A (p.Asp186Glu) c.487+406C>A (n.487+406C>A) c.408C>A (p.Asp136Glu) c.*454C>A (n.*454C>A) c.498C>A (p.Asp166Glu) c.255+1719C>A (n.255+1719C>A) c.337+406C>A (n.337+406C>A) c.516C>A (p.Asp172Glu) c.448+406C>A (n.448+406C>A) c.522C>A (p.Asp174Glu) c.468C>A (p.Asp156Glu) c.546C>A (p.Asp182Glu) | gnomAD v4 |
| 15 | g.74893208C>G | CA393174459 | MPI | c.558C>G (p.Asp186Glu) c.487+406C>G (n.487+406C>G) c.408C>G (p.Asp136Glu) c.*454C>G (n.*454C>G) c.498C>G (p.Asp166Glu) c.255+1719C>G (n.255+1719C>G) c.337+406C>G (n.337+406C>G) c.516C>G (p.Asp172Glu) c.448+406C>G (n.448+406C>G) c.522C>G (p.Asp174Glu) c.468C>G (p.Asp156Glu) c.546C>G (p.Asp182Glu) | |
| 15 | g.74893208C>T | CA491491292 | MPI | c.558C>T (p.Asp186=) c.487+406C>T (n.487+406C>T) c.408C>T (p.Asp136=) c.*454C>T (n.*454C>T) c.498C>T (p.Asp166=) c.255+1719C>T (n.255+1719C>T) c.337+406C>T (n.337+406C>T) c.516C>T (p.Asp172=) c.448+406C>T (n.448+406C>T) c.522C>T (p.Asp174=) c.468C>T (p.Asp156=) c.546C>T (p.Asp182=) | |
| 15 | g.74893209T>A | CA393174462 | MPI | c.559T>A (p.Ser187Thr) c.487+407T>A (n.487+407T>A) c.409T>A (p.Ser137Thr) c.*455T>A (n.*455T>A) c.499T>A (p.Ser167Thr) c.255+1720T>A (n.255+1720T>A) c.337+407T>A (n.337+407T>A) c.517T>A (p.Ser173Thr) c.448+407T>A (n.448+407T>A) c.523T>A (p.Ser175Thr) c.469T>A (p.Ser157Thr) c.547T>A (p.Ser183Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74893209T>C | CA393174465 | MPI | c.559T>C (p.Ser187Pro) c.487+407T>C (n.487+407T>C) c.409T>C (p.Ser137Pro) c.*455T>C (n.*455T>C) c.499T>C (p.Ser167Pro) c.255+1720T>C (n.255+1720T>C) c.337+407T>C (n.337+407T>C) c.517T>C (p.Ser173Pro) c.448+407T>C (n.448+407T>C) c.523T>C (p.Ser175Pro) c.469T>C (p.Ser157Pro) c.547T>C (p.Ser183Pro) | |
| 15 | g.74893209T>G | CA393174468 | MPI | c.559T>G (p.Ser187Ala) c.487+407T>G (n.487+407T>G) c.409T>G (p.Ser137Ala) c.*455T>G (n.*455T>G) c.499T>G (p.Ser167Ala) c.255+1720T>G (n.255+1720T>G) c.337+407T>G (n.337+407T>G) c.517T>G (p.Ser173Ala) c.448+407T>G (n.448+407T>G) c.523T>G (p.Ser175Ala) c.469T>G (p.Ser157Ala) c.547T>G (p.Ser183Ala) | |
| 15 | g.74893209T= | CA2187897273 | MPI | c.559T= (p.Ser187=) c.487+407T= (n.487+407T=) c.409T= (p.Ser137=) c.*455T= (n.*455T=) c.499T= (p.Ser167=) c.255+1720T= (n.255+1720T=) c.337+407T= (n.337+407T=) c.517T= (p.Ser173=) c.448+407T= (n.448+407T=) c.523T= (p.Ser175=) c.469T= (p.Ser157=) c.547T= (p.Ser183=) | |
| 15 | g.74893210C>A | CA393174471 | MPI | c.560C>A (p.Ser187Tyr) c.487+408C>A (n.487+408C>A) c.410C>A (p.Ser137Tyr) c.*456C>A (n.*456C>A) c.500C>A (p.Ser167Tyr) c.255+1721C>A (n.255+1721C>A) c.337+408C>A (n.337+408C>A) c.518C>A (p.Ser173Tyr) c.448+408C>A (n.448+408C>A) c.524C>A (p.Ser175Tyr) c.470C>A (p.Ser157Tyr) c.548C>A (p.Ser183Tyr) | |
| 15 | g.74893210C= | CA2187897275 | MPI | c.560C= (p.Ser187=) c.487+408C= (n.487+408C=) c.410C= (p.Ser137=) c.*456C= (n.*456C=) c.500C= (p.Ser167=) c.255+1721C= (n.255+1721C=) c.337+408C= (n.337+408C=) c.518C= (p.Ser173=) c.448+408C= (n.448+408C=) c.524C= (p.Ser175=) c.470C= (p.Ser157=) c.548C= (p.Ser183=) | |
| 15 | g.74893210C>G | CA393174473 | MPI | c.560C>G (p.Ser187Cys) c.487+408C>G (n.487+408C>G) c.410C>G (p.Ser137Cys) c.*456C>G (n.*456C>G) c.500C>G (p.Ser167Cys) c.255+1721C>G (n.255+1721C>G) c.337+408C>G (n.337+408C>G) c.518C>G (p.Ser173Cys) c.448+408C>G (n.448+408C>G) c.524C>G (p.Ser175Cys) c.470C>G (p.Ser157Cys) c.548C>G (p.Ser183Cys) | |
| 15 | g.74893210C>T | CA272823551 | MPI | c.560C>T (p.Ser187Phe) c.487+408C>T (n.487+408C>T) c.410C>T (p.Ser137Phe) c.*456C>T (n.*456C>T) c.500C>T (p.Ser167Phe) c.255+1721C>T (n.255+1721C>T) c.337+408C>T (n.337+408C>T) c.518C>T (p.Ser173Phe) c.448+408C>T (n.448+408C>T) c.524C>T (p.Ser175Phe) c.470C>T (p.Ser157Phe) c.548C>T (p.Ser183Phe) | dbSNP gnomAD v4 |
| 15 | g.74893211C>A | CA491491293 | MPI | c.561C>A (p.Ser187=) c.487+409C>A (n.487+409C>A) c.411C>A (p.Ser137=) c.*457C>A (n.*457C>A) c.501C>A (p.Ser167=) c.255+1722C>A (n.255+1722C>A) c.337+409C>A (n.337+409C>A) c.519C>A (p.Ser173=) c.448+409C>A (n.448+409C>A) c.525C>A (p.Ser175=) c.471C>A (p.Ser157=) c.549C>A (p.Ser183=) | |
| 15 | g.74893211C>G | CA491491294 | MPI | c.561C>G (p.Ser187=) c.487+409C>G (n.487+409C>G) c.411C>G (p.Ser137=) c.*457C>G (n.*457C>G) c.501C>G (p.Ser167=) c.255+1722C>G (n.255+1722C>G) c.337+409C>G (n.337+409C>G) c.519C>G (p.Ser173=) c.448+409C>G (n.448+409C>G) c.525C>G (p.Ser175=) c.471C>G (p.Ser157=) c.549C>G (p.Ser183=) | |
| 15 | g.74893211C>T | CA491491295 | MPI | c.561C>T (p.Ser187=) c.487+409C>T (n.487+409C>T) c.411C>T (p.Ser137=) c.*457C>T (n.*457C>T) c.501C>T (p.Ser167=) c.255+1722C>T (n.255+1722C>T) c.337+409C>T (n.337+409C>T) c.519C>T (p.Ser173=) c.448+409C>T (n.448+409C>T) c.525C>T (p.Ser175=) c.471C>T (p.Ser157=) c.549C>T (p.Ser183=) | |
| 15 | g.74893212C>A | CA393174478 | MPI | c.562C>A (p.Gln188Lys) c.487+410C>A (n.487+410C>A) c.412C>A (p.Gln138Lys) c.*458C>A (n.*458C>A) c.502C>A (p.Gln168Lys) c.255+1723C>A (n.255+1723C>A) c.337+410C>A (n.337+410C>A) c.520C>A (p.Gln174Lys) c.448+410C>A (n.448+410C>A) c.526C>A (p.Gln176Lys) c.472C>A (p.Gln158Lys) c.550C>A (p.Gln184Lys) | |
| 15 | g.74893212C>G | CA393174484 | MPI | c.562C>G (p.Gln188Glu) c.487+410C>G (n.487+410C>G) c.412C>G (p.Gln138Glu) c.*458C>G (n.*458C>G) c.502C>G (p.Gln168Glu) c.255+1723C>G (n.255+1723C>G) c.337+410C>G (n.337+410C>G) c.520C>G (p.Gln174Glu) c.448+410C>G (n.448+410C>G) c.526C>G (p.Gln176Glu) c.472C>G (p.Gln158Glu) c.550C>G (p.Gln184Glu) | |
| 15 | g.74893212C>T | CA393174481 | MPI | c.562C>T (p.Gln188Ter) c.487+410C>T (n.487+410C>T) c.412C>T (p.Gln138Ter) c.*458C>T (n.*458C>T) c.502C>T (p.Gln168Ter) c.255+1723C>T (n.255+1723C>T) c.337+410C>T (n.337+410C>T) c.520C>T (p.Gln174Ter) c.448+410C>T (n.448+410C>T) c.526C>T (p.Gln176Ter) c.472C>T (p.Gln158Ter) c.550C>T (p.Gln184Ter) | |
| 15 | g.74893213A= | CA2187897279 | MPI | c.563A= (p.Gln188=) c.487+411A= (n.487+411A=) c.413A= (p.Gln138=) c.*459A= (n.*459A=) c.503A= (p.Gln168=) c.255+1724A= (n.255+1724A=) c.337+411A= (n.337+411A=) c.521A= (p.Gln174=) c.448+411A= (n.448+411A=) c.527A= (p.Gln176=) c.473A= (p.Gln158=) c.551A= (p.Gln184=) | |
| 15 | g.74893213A>C | CA393174487 | MPI | c.563A>C (p.Gln188Pro) c.487+411A>C (n.487+411A>C) c.413A>C (p.Gln138Pro) c.*459A>C (n.*459A>C) c.503A>C (p.Gln168Pro) c.255+1724A>C (n.255+1724A>C) c.337+411A>C (n.337+411A>C) c.521A>C (p.Gln174Pro) c.448+411A>C (n.448+411A>C) c.527A>C (p.Gln176Pro) c.473A>C (p.Gln158Pro) c.551A>C (p.Gln184Pro) | |
| 15 | g.74893213A>G | CA7662463 | MPI | c.563A>G (p.Gln188Arg) c.487+411A>G (n.487+411A>G) c.413A>G (p.Gln138Arg) c.*459A>G (n.*459A>G) c.503A>G (p.Gln168Arg) c.255+1724A>G (n.255+1724A>G) c.337+411A>G (n.337+411A>G) c.521A>G (p.Gln174Arg) c.448+411A>G (n.448+411A>G) c.527A>G (p.Gln176Arg) c.473A>G (p.Gln158Arg) c.551A>G (p.Gln184Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74893213A>T | CA393174489 | MPI | c.563A>T (p.Gln188Leu) c.487+411A>T (n.487+411A>T) c.413A>T (p.Gln138Leu) c.*459A>T (n.*459A>T) c.503A>T (p.Gln168Leu) c.255+1724A>T (n.255+1724A>T) c.337+411A>T (n.337+411A>T) c.521A>T (p.Gln174Leu) c.448+411A>T (n.448+411A>T) c.527A>T (p.Gln176Leu) c.473A>T (p.Gln158Leu) c.551A>T (p.Gln184Leu) | |
| 15 | g.74893214G>A | CA491491296 | MPI | c.564G>A (p.Gln188=) c.487+412G>A (n.487+412G>A) c.414G>A (p.Gln138=) c.*460G>A (n.*460G>A) c.504G>A (p.Gln168=) c.255+1725G>A (n.255+1725G>A) c.337+412G>A (n.337+412G>A) c.522G>A (p.Gln174=) c.448+412G>A (n.448+412G>A) c.528G>A (p.Gln176=) c.474G>A (p.Gln158=) c.552G>A (p.Gln184=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74893214G>C | CA393174490 | MPI | c.564G>C (p.Gln188His) c.487+412G>C (n.487+412G>C) c.414G>C (p.Gln138His) c.*460G>C (n.*460G>C) c.504G>C (p.Gln168His) c.255+1725G>C (n.255+1725G>C) c.337+412G>C (n.337+412G>C) c.522G>C (p.Gln174His) c.448+412G>C (n.448+412G>C) c.528G>C (p.Gln176His) c.474G>C (p.Gln158His) c.552G>C (p.Gln184His) | |
| 15 | g.74893214G= | CA2187897280 | MPI | c.564G= (p.Gln188=) c.487+412G= (n.487+412G=) c.414G= (p.Gln138=) c.*460G= (n.*460G=) c.504G= (p.Gln168=) c.255+1725G= (n.255+1725G=) c.337+412G= (n.337+412G=) c.522G= (p.Gln174=) c.448+412G= (n.448+412G=) c.528G= (p.Gln176=) c.474G= (p.Gln158=) c.552G= (p.Gln184=) | |
| 15 | g.74893214G>T | CA393174491 | MPI | c.564G>T (p.Gln188His) c.487+412G>T (n.487+412G>T) c.414G>T (p.Gln138His) c.*460G>T (n.*460G>T) c.504G>T (p.Gln168His) c.255+1725G>T (n.255+1725G>T) c.337+412G>T (n.337+412G>T) c.522G>T (p.Gln174His) c.448+412G>T (n.448+412G>T) c.528G>T (p.Gln176His) c.474G>T (p.Gln158His) c.552G>T (p.Gln184His) | |
| 15 | g.74893215G>A | CA393174495 | MPI | c.565G>A (p.Ala189Thr) c.487+413G>A (n.487+413G>A) c.415G>A (p.Ala139Thr) c.*461G>A (n.*461G>A) c.505G>A (p.Ala169Thr) c.255+1726G>A (n.255+1726G>A) c.337+413G>A (n.337+413G>A) c.523G>A (p.Ala175Thr) c.448+413G>A (n.448+413G>A) c.529G>A (p.Ala177Thr) c.475G>A (p.Ala159Thr) c.553G>A (p.Ala185Thr) | |
| 15 | g.74893215G>C | CA393174498 | MPI | c.565G>C (p.Ala189Pro) c.487+413G>C (n.487+413G>C) c.415G>C (p.Ala139Pro) c.*461G>C (n.*461G>C) c.505G>C (p.Ala169Pro) c.255+1726G>C (n.255+1726G>C) c.337+413G>C (n.337+413G>C) c.523G>C (p.Ala175Pro) c.448+413G>C (n.448+413G>C) c.529G>C (p.Ala177Pro) c.475G>C (p.Ala159Pro) c.553G>C (p.Ala185Pro) | |
| 15 | g.74893215G>T | CA393174497 | MPI | c.565G>T (p.Ala189Ser) c.487+413G>T (n.487+413G>T) c.415G>T (p.Ala139Ser) c.*461G>T (n.*461G>T) c.505G>T (p.Ala169Ser) c.255+1726G>T (n.255+1726G>T) c.337+413G>T (n.337+413G>T) c.523G>T (p.Ala175Ser) c.448+413G>T (n.448+413G>T) c.529G>T (p.Ala177Ser) c.475G>T (p.Ala159Ser) c.553G>T (p.Ala185Ser) | |
| 15 | g.74893216C>A | CA393174499 | MPI | c.566C>A (p.Ala189Asp) c.487+414C>A (n.487+414C>A) c.416C>A (p.Ala139Asp) c.*462C>A (n.*462C>A) c.506C>A (p.Ala169Asp) c.255+1727C>A (n.255+1727C>A) c.337+414C>A (n.337+414C>A) c.524C>A (p.Ala175Asp) c.448+414C>A (n.448+414C>A) c.530C>A (p.Ala177Asp) c.476C>A (p.Ala159Asp) c.554C>A (p.Ala185Asp) | |
| 15 | g.74893216C>G | CA393174501 | MPI | c.566C>G (p.Ala189Gly) c.487+414C>G (n.487+414C>G) c.416C>G (p.Ala139Gly) c.*462C>G (n.*462C>G) c.506C>G (p.Ala169Gly) c.255+1727C>G (n.255+1727C>G) c.337+414C>G (n.337+414C>G) c.524C>G (p.Ala175Gly) c.448+414C>G (n.448+414C>G) c.530C>G (p.Ala177Gly) c.476C>G (p.Ala159Gly) c.554C>G (p.Ala185Gly) | |
| 15 | g.74893216C>T | CA393174503 | MPI | c.566C>T (p.Ala189Val) c.487+414C>T (n.487+414C>T) c.416C>T (p.Ala139Val) c.*462C>T (n.*462C>T) c.506C>T (p.Ala169Val) c.255+1727C>T (n.255+1727C>T) c.337+414C>T (n.337+414C>T) c.524C>T (p.Ala175Val) c.448+414C>T (n.448+414C>T) c.530C>T (p.Ala177Val) c.476C>T (p.Ala159Val) c.554C>T (p.Ala185Val) | |
| 15 | g.74893217T>A | CA491491299 | MPI | c.567T>A (p.Ala189=) c.487+415T>A (n.487+415T>A) c.417T>A (p.Ala139=) c.*463T>A (n.*463T>A) c.507T>A (p.Ala169=) c.255+1728T>A (n.255+1728T>A) c.337+415T>A (n.337+415T>A) c.525T>A (p.Ala175=) c.448+415T>A (n.448+415T>A) c.531T>A (p.Ala177=) c.477T>A (p.Ala159=) c.555T>A (p.Ala185=) | |
| 15 | g.74893217T>C | CA491491298 | MPI | c.567T>C (p.Ala189=) c.487+415T>C (n.487+415T>C) c.417T>C (p.Ala139=) c.*463T>C (n.*463T>C) c.507T>C (p.Ala169=) c.255+1728T>C (n.255+1728T>C) c.337+415T>C (n.337+415T>C) c.525T>C (p.Ala175=) c.448+415T>C (n.448+415T>C) c.531T>C (p.Ala177=) c.477T>C (p.Ala159=) c.555T>C (p.Ala185=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74893217T>G | CA491491297 | MPI | c.567T>G (p.Ala189=) c.487+415T>G (n.487+415T>G) c.417T>G (p.Ala139=) c.*463T>G (n.*463T>G) c.507T>G (p.Ala169=) c.255+1728T>G (n.255+1728T>G) c.337+415T>G (n.337+415T>G) c.525T>G (p.Ala175=) c.448+415T>G (n.448+415T>G) c.531T>G (p.Ala177=) c.477T>G (p.Ala159=) c.555T>G (p.Ala185=) | |
| 15 | g.74893217T= | CA2187897284 | MPI | c.567T= (p.Ala189=) c.487+415T= (n.487+415T=) c.417T= (p.Ala139=) c.*463T= (n.*463T=) c.507T= (p.Ala169=) c.255+1728T= (n.255+1728T=) c.337+415T= (n.337+415T=) c.525T= (p.Ala175=) c.448+415T= (n.448+415T=) c.531T= (p.Ala177=) c.477T= (p.Ala159=) c.555T= (p.Ala185=) | |
| 15 | g.74893218G>A | CA393174505 | MPI | c.568G>A (p.Val190Met) c.487+416G>A (n.487+416G>A) c.418G>A (p.Val140Met) c.*464G>A (n.*464G>A) c.508G>A (p.Val170Met) c.255+1729G>A (n.255+1729G>A) c.337+416G>A (n.337+416G>A) c.526G>A c.448+416G>A (n.448+416G>A) c.532G>A (p.Val178Met) c.478G>A (p.Val160Met) c.556G>A (p.Val186Met) | |
| 15 | g.74893218G>C | CA393174507 | MPI | c.568G>C (p.Val190Leu) c.487+416G>C (n.487+416G>C) c.418G>C (p.Val140Leu) c.*464G>C (n.*464G>C) c.508G>C (p.Val170Leu) c.255+1729G>C (n.255+1729G>C) c.337+416G>C (n.337+416G>C) c.526G>C c.448+416G>C (n.448+416G>C) c.532G>C (p.Val178Leu) c.478G>C (p.Val160Leu) c.556G>C (p.Val186Leu) | |
| 15 | g.74893218G>T | CA393174509 | MPI | c.568G>T (p.Val190Leu) c.487+416G>T (n.487+416G>T) c.418G>T (p.Val140Leu) c.*464G>T (n.*464G>T) c.508G>T (p.Val170Leu) c.255+1729G>T (n.255+1729G>T) c.337+416G>T (n.337+416G>T) c.526G>T c.448+416G>T (n.448+416G>T) c.532G>T (p.Val178Leu) c.478G>T (p.Val160Leu) c.556G>T (p.Val186Leu) | |
| 15 | g.74893219T>A | CA393174512 | MPI | c.569T>A (p.Val190Glu) c.487+417T>A (n.487+417T>A) c.419T>A (p.Val140Glu) c.*465T>A (n.*465T>A) c.509T>A (p.Val170Glu) c.255+1730T>A (n.255+1730T>A) c.337+417T>A (n.337+417T>A) c.527T>A c.448+417T>A (n.448+417T>A) c.533T>A (p.Val178Glu) c.479T>A (p.Val160Glu) c.557T>A (p.Val186Glu) | |
| 15 | g.74893219T>C | CA393174514 | MPI | c.569T>C (p.Val190Ala) c.487+417T>C (n.487+417T>C) c.419T>C (p.Val140Ala) c.*465T>C (n.*465T>C) c.509T>C (p.Val170Ala) c.255+1730T>C (n.255+1730T>C) c.337+417T>C (n.337+417T>C) c.527T>C c.448+417T>C (n.448+417T>C) c.533T>C (p.Val178Ala) c.479T>C (p.Val160Ala) c.557T>C (p.Val186Ala) | |
| 15 | g.74893219T>G | CA393174515 | MPI | c.569T>G (p.Val190Gly) c.487+417T>G (n.487+417T>G) c.419T>G (p.Val140Gly) c.*465T>G (n.*465T>G) c.509T>G (p.Val170Gly) c.255+1730T>G (n.255+1730T>G) c.337+417T>G (n.337+417T>G) c.527T>G c.448+417T>G (n.448+417T>G) c.533T>G (p.Val178Gly) c.479T>G (p.Val160Gly) c.557T>G (p.Val186Gly) | |
| 15 | g.74893220G>A | CA491491300 | MPI | c.570G>A (p.Val190=) c.487+418G>A (n.487+418G>A) c.420G>A (p.Val140=) c.*466G>A (n.*466G>A) c.510G>A (p.Val170=) c.255+1731G>A (n.255+1731G>A) c.337+418G>A (n.337+418G>A) c.448+418G>A (n.448+418G>A) c.534G>A (p.Val178=) c.480G>A (p.Val160=) c.558G>A (p.Val186=) | |
| 15 | g.74893220G>C | CA491491301 | MPI | c.570G>C (p.Val190=) c.487+418G>C (n.487+418G>C) c.420G>C (p.Val140=) c.*466G>C (n.*466G>C) c.510G>C (p.Val170=) c.255+1731G>C (n.255+1731G>C) c.337+418G>C (n.337+418G>C) c.448+418G>C (n.448+418G>C) c.534G>C (p.Val178=) c.480G>C (p.Val160=) c.558G>C (p.Val186=) |