Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.210592878G>ACA350430706CPS1c.1087-1G>A (n.1087-1G>A)
c.1105-1G>A (n.1105-1G>A)
c.1120-1G>A (n.1120-1G>A)
n.1999-1G>A
2g.210592878G>CCA350430707CPS1c.1087-1G>C (n.1087-1G>C)
c.1105-1G>C (n.1105-1G>C)
c.1120-1G>C (n.1120-1G>C)
n.1999-1G>C
2g.210592878G=CA1325073314CPS1c.1087-1G= (n.1087-1G=)
c.1105-1G= (n.1105-1G=)
c.1120-1G= (n.1120-1G=)
n.1999-1G=
2g.210592878G>TCA16617422CPS1c.1087-1G>T (n.1087-1G>T)
c.1105-1G>T (n.1105-1G>T)
c.1120-1G>T (n.1120-1G>T)
n.1999-1G>T
 ClinVar dbSNP
2g.210592879G>ACA350430708CPS1c.1087G>A (p.Gly363Arg)
c.1105G>A (p.Gly369Arg)
c.1120G>A (p.Gly374Arg)
n.1999G>A
 dbSNP
2g.210592879G>CCA350430709CPS1c.1087G>C (p.Gly363Arg)
c.1105G>C (p.Gly369Arg)
c.1120G>C (p.Gly374Arg)
n.1999G>C
2g.210592879G>TCA350430710CPS1c.1087G>T (p.Gly363Trp)
c.1105G>T (p.Gly369Trp)
c.1120G>T (p.Gly374Trp)
n.1999G>T
2g.210592880G>ACA350430711CPS1c.1088G>A (p.Gly363Glu)
c.1106G>A (p.Gly369Glu)
c.1121G>A (p.Gly374Glu)
n.2000G>A
 dbSNP gnomAD v2 gnomAD v4
2g.210592880G>CCA350430712CPS1c.1088G>C (p.Gly363Ala)
c.1106G>C (p.Gly369Ala)
c.1121G>C (p.Gly374Ala)
n.2000G>C
2g.210592880G=CA1325073315CPS1c.1088G= (p.Gly363=)
c.1106G= (p.Gly369=)
c.1121G= (p.Gly374=)
n.2000G=
2g.210592880G>TCA350430713CPS1c.1088G>T (p.Gly363Val)
c.1106G>T (p.Gly369Val)
c.1121G>T (p.Gly374Val)
n.2000G>T
2g.210592881G>ACA431011592CPS1c.1089G>A (p.Gly363=)
c.1107G>A (p.Gly369=)
c.1122G>A (p.Gly374=)
n.2001G>A
2g.210592881G>CCA431011593CPS1c.1089G>C (p.Gly363=)
c.1107G>C (p.Gly369=)
c.1122G>C (p.Gly374=)
n.2001G>C
2g.210592881G>TCA431011594CPS1c.1089G>T (p.Gly363=)
c.1107G>T (p.Gly369=)
c.1122G>T (p.Gly374=)
n.2001G>T
2g.210592882A=CA1325073316CPS1c.1090A= (p.Ile364=)
c.1108A= (p.Ile370=)
c.1123A= (p.Ile375=)
n.2002A=
2g.210592882A>CCA350430714CPS1c.1090A>C (p.Ile364Leu)
c.1108A>C (p.Ile370Leu)
c.1123A>C (p.Ile375Leu)
n.2002A>C
2g.210592882A>GCA2086248CPS1c.1090A>G (p.Ile364Val)
c.1108A>G (p.Ile370Val)
c.1123A>G (p.Ile375Val)
n.2002A>G
 dbSNP ExAC gnomAD v2
2g.210592882A>TCA350430715CPS1c.1090A>T (p.Ile364Phe)
c.1108A>T (p.Ile370Phe)
c.1123A>T (p.Ile375Phe)
n.2002A>T
 gnomAD v4
2g.210592883T>ACA350430716CPS1c.1091T>A (p.Ile364Asn)
c.1109T>A (p.Ile370Asn)
c.1124T>A (p.Ile375Asn)
n.2003T>A
2g.210592883T>CCA64742187CPS1c.1091T>C (p.Ile364Thr)
c.1109T>C (p.Ile370Thr)
c.1124T>C (p.Ile375Thr)
n.2003T>C
 dbSNP
2g.210592883T>GCA350430717CPS1c.1091T>G (p.Ile364Ser)
c.1109T>G (p.Ile370Ser)
c.1124T>G (p.Ile375Ser)
n.2003T>G
2g.210592883T=CA1325073317CPS1c.1091T= (p.Ile364=)
c.1109T= (p.Ile370=)
c.1124T= (p.Ile375=)
n.2003T=
2g.210592884T>ACA431011595CPS1c.1092T>A (p.Ile364=)
c.1110T>A (p.Ile370=)
c.1125T>A (p.Ile375=)
n.2004T>A
2g.210592884T>CCA431011596CPS1c.1092T>C (p.Ile364=)
c.1110T>C (p.Ile370=)
c.1125T>C (p.Ile375=)
n.2004T>C
2g.210592884T>GCA2086249CPS1c.1092T>G (p.Ile364Met)
c.1110T>G (p.Ile370Met)
c.1125T>G (p.Ile375Met)
n.2004T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.210592884T=CA1325073318CPS1c.1092T= (p.Ile364=)
c.1110T= (p.Ile370=)
c.1125T= (p.Ile375=)
n.2004T=
2g.210592885A>CCA350430718CPS1c.1093A>C (p.Met365Leu)
c.1111A>C (p.Met371Leu)
c.1126A>C (p.Met376Leu)
n.2005A>C
2g.210592885A>GCA350430719CPS1c.1093A>G (p.Met365Val)
c.1111A>G (p.Met371Val)
c.1126A>G (p.Met376Val)
n.2005A>G
 gnomAD v4
2g.210592885A>TCA350430720CPS1c.1093A>T (p.Met365Leu)
c.1111A>T (p.Met371Leu)
c.1126A>T (p.Met376Leu)
n.2005A>T
2g.210592886T>ACA350430721CPS1c.1094T>A (p.Met365Lys)
c.1112T>A (p.Met371Lys)
c.1127T>A (p.Met376Lys)
n.2006T>A
2g.210592886T>CCA350430722CPS1c.1094T>C (p.Met365Thr)
c.1112T>C (p.Met371Thr)
c.1127T>C (p.Met376Thr)
n.2006T>C
 gnomAD v4
2g.210592886T>GCA350430723CPS1c.1094T>G (p.Met365Arg)
c.1112T>G (p.Met371Arg)
c.1127T>G (p.Met376Arg)
n.2006T>G
2g.210592887G>ACA350430724CPS1c.1095G>A (p.Met365Ile)
c.1113G>A (p.Met371Ile)
c.1128G>A (p.Met376Ile)
n.2007G>A
2g.210592887G>CCA350430725CPS1c.1095G>C (p.Met365Ile)
c.1113G>C (p.Met371Ile)
c.1128G>C (p.Met376Ile)
n.2007G>C
2g.210592887G>TCA350430726CPS1c.1095G>T (p.Met365Ile)
c.1113G>T (p.Met371Ile)
c.1128G>T (p.Met376Ile)
n.2007G>T
2g.210592888C>ACA350430727CPS1c.1096C>A (p.His366Asn)
c.1114C>A (p.His372Asn)
c.1129C>A (p.His377Asn)
n.2008C>A
2g.210592888C>GCA350430728CPS1c.1096C>G (p.His366Asp)
c.1114C>G (p.His372Asp)
c.1129C>G (p.His377Asp)
n.2008C>G
2g.210592888C>TCA350430729CPS1c.1096C>T (p.His366Tyr)
c.1114C>T (p.His372Tyr)
c.1129C>T (p.His377Tyr)
n.2008C>T
2g.210592889A=CA1325073319CPS1c.1097A= (p.His366=)
c.1115A= (p.His372=)
c.1130A= (p.His377=)
n.2009A=
2g.210592889A>CCA350430730CPS1c.1097A>C (p.His366Pro)
c.1115A>C (p.His372Pro)
c.1130A>C (p.His377Pro)
n.2009A>C
2g.210592889A>GCA350430732CPS1c.1097A>G (p.His366Arg)
c.1115A>G (p.His372Arg)
c.1130A>G (p.His377Arg)
n.2009A>G
 dbSNP gnomAD v4
2g.210592889A>TCA350430731CPS1c.1097A>T (p.His366Leu)
c.1115A>T (p.His372Leu)
c.1130A>T (p.His377Leu)
n.2009A>T
2g.210592890T>ACA350430733CPS1c.1098T>A (p.His366Gln)
c.1116T>A (p.His372Gln)
c.1131T>A (p.His377Gln)
n.2010T>A
2g.210592890T>CCA431011602CPS1c.1098T>C (p.His366=)
c.1116T>C (p.His372=)
c.1131T>C (p.His377=)
n.2010T>C
 ClinVar dbSNP gnomAD v4
2g.210592890T>GCA350430734CPS1c.1098T>G (p.His366Gln)
c.1116T>G (p.His372Gln)
c.1131T>G (p.His377Gln)
n.2010T>G
 dbSNP gnomAD v2 gnomAD v4
2g.210592890T=CA1325073320CPS1c.1098T= (p.His366=)
c.1116T= (p.His372=)
c.1131T= (p.His377=)
n.2010T=
2g.210592891G>ACA2086250CPS1c.1099G>A (p.Glu367Lys)
c.1117G>A (p.Glu373Lys)
c.1132G>A (p.Glu378Lys)
n.2011G>A
 dbSNP ExAC gnomAD v4
2g.210592891G>CCA350430735CPS1c.1099G>C (p.Glu367Gln)
c.1117G>C (p.Glu373Gln)
c.1132G>C (p.Glu378Gln)
n.2011G>C
2g.210592891G=CA1325073321CPS1c.1099G= (p.Glu367=)
c.1117G= (p.Glu373=)
c.1132G= (p.Glu378=)
n.2011G=
2g.210592891G>TCA350430736CPS1c.1099G>T (p.Glu367Ter)
c.1117G>T (p.Glu373Ter)
c.1132G>T (p.Glu378Ter)
n.2011G>T

Number of alleles fetched