Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.210592892A=CA1325073322CPS1c.1100A= (p.Glu367=)
c.1118A= (p.Glu373=)
c.1133A= (p.Glu378=)
n.2012A=
2g.210592892A>CCA2086251CPS1c.1100A>C (p.Glu367Ala)
c.1118A>C (p.Glu373Ala)
c.1133A>C (p.Glu378Ala)
n.2012A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.210592892A>GCA350430737CPS1c.1100A>G (p.Glu367Gly)
c.1118A>G (p.Glu373Gly)
c.1133A>G (p.Glu378Gly)
n.2012A>G
2g.210592892A>TCA350430738CPS1c.1100A>T (p.Glu367Val)
c.1118A>T (p.Glu373Val)
c.1133A>T (p.Glu378Val)
n.2012A>T
2g.210592893G>ACA431011604CPS1c.1101G>A (p.Glu367=)
c.1119G>A (p.Glu373=)
c.1134G>A (p.Glu378=)
n.2013G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.210592893G>CCA64742226CPS1c.1101G>C (p.Glu367Asp)
c.1119G>C (p.Glu373Asp)
c.1134G>C (p.Glu378Asp)
n.2013G>C
 dbSNP gnomAD v3 gnomAD v4
2g.210592893G=CA1325073323CPS1c.1101G= (p.Glu367=)
c.1119G= (p.Glu373=)
c.1134G= (p.Glu378=)
n.2013G=
2g.210592893G>TCA350430739CPS1c.1101G>T (p.Glu367Asp)
c.1119G>T (p.Glu373Asp)
c.1134G>T (p.Glu378Asp)
n.2013G>T
2g.210592894A=CA1325073324CPS1c.1102A= (p.Ser368=)
c.1120A= (p.Ser374=)
c.1135A= (p.Ser379=)
n.2014A=
2g.210592894A>CCA350430740CPS1c.1102A>C (p.Ser368Arg)
c.1120A>C (p.Ser374Arg)
c.1135A>C (p.Ser379Arg)
n.2014A>C
2g.210592894A>GCA350430741CPS1c.1102A>G (p.Ser368Gly)
c.1120A>G (p.Ser374Gly)
c.1135A>G (p.Ser379Gly)
n.2014A>G
2g.210592894A>TCA2086252CPS1c.1102A>T (p.Ser368Cys)
c.1120A>T (p.Ser374Cys)
c.1135A>T (p.Ser379Cys)
n.2014A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.210592895G>ACA350430742CPS1c.1103G>A (p.Ser368Asn)
c.1121G>A (p.Ser374Asn)
c.1136G>A (p.Ser379Asn)
n.2015G>A
2g.210592895G>CCA350430744CPS1c.1103G>C (p.Ser368Thr)
c.1121G>C (p.Ser374Thr)
c.1136G>C (p.Ser379Thr)
n.2015G>C
2g.210592895G>TCA350430743CPS1c.1103G>T (p.Ser368Ile)
c.1121G>T (p.Ser374Ile)
c.1136G>T (p.Ser379Ile)
n.2015G>T
2g.210592896C>ACA350430745CPS1c.1104C>A (p.Ser368Arg)
c.1122C>A (p.Ser374Arg)
c.1137C>A (p.Ser379Arg)
n.2016C>A
 gnomAD v4
2g.210592896C>GCA350430746CPS1c.1104C>G (p.Ser368Arg)
c.1122C>G (p.Ser374Arg)
c.1137C>G (p.Ser379Arg)
n.2016C>G
2g.210592896C>TCA431011606CPS1c.1104C>T (p.Ser368=)
c.1122C>T (p.Ser374=)
c.1137C>T (p.Ser379=)
n.2016C>T
2g.210592897A=CA1325073325CPS1c.1105A= (p.Lys369=)
c.1123A= (p.Lys375=)
c.1138A= (p.Lys380=)
n.2017A=
2g.210592897A>CCA2086253CPS1c.1105A>C (p.Lys369Gln)
c.1123A>C (p.Lys375Gln)
c.1138A>C (p.Lys380Gln)
n.2017A>C
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.210592897A>GCA350430748CPS1c.1105A>G (p.Lys369Glu)
c.1123A>G (p.Lys375Glu)
c.1138A>G (p.Lys380Glu)
n.2017A>G
 gnomAD v4 COSMIC COSMIC
2g.210592897A>TCA350430747CPS1c.1105A>T (p.Lys369Ter)
c.1123A>T (p.Lys375Ter)
c.1138A>T (p.Lys380Ter)
n.2017A>T
2g.210592898A>CCA350430749CPS1c.1106A>C (p.Lys369Thr)
c.1124A>C (p.Lys375Thr)
c.1139A>C (p.Lys380Thr)
n.2018A>C
2g.210592898A>GCA350430751CPS1c.1106A>G (p.Lys369Arg)
c.1124A>G (p.Lys375Arg)
c.1139A>G (p.Lys380Arg)
n.2018A>G
2g.210592898A>TCA350430750CPS1c.1106A>T (p.Lys369Ile)
c.1124A>T (p.Lys375Ile)
c.1139A>T (p.Lys380Ile)
n.2018A>T
2g.210592899A>CCA350430752CPS1c.1107A>C (p.Lys369Asn)
c.1125A>C (p.Lys375Asn)
c.1140A>C (p.Lys380Asn)
n.2019A>C
2g.210592899A>GCA431011607CPS1c.1107A>G (p.Lys369=)
c.1125A>G (p.Lys375=)
c.1140A>G (p.Lys380=)
n.2019A>G
2g.210592899A>TCA350430753CPS1c.1107A>T (p.Lys369Asn)
c.1125A>T (p.Lys375Asn)
c.1140A>T (p.Lys380Asn)
n.2019A>T
2g.210592899_210592900delinsACCA1325073326CPS1c.1107_1108delinsAC (p.Lys369=)
c.1125_1126delinsAC (p.Lys375=)
c.1140_1141delinsAC (p.Lys380=)
n.2019_2020delinsAC
2g.210592900C>ACA350430754CPS1c.1108C>A (p.Pro370Thr)
c.1126C>A (p.Pro376Thr)
c.1141C>A (p.Pro381Thr)
n.2020C>A
2g.210592900C>GCA350430755CPS1c.1108C>G (p.Pro370Ala)
c.1126C>G (p.Pro376Ala)
c.1141C>G (p.Pro381Ala)
n.2020C>G
2g.210592900C>TCA350430756CPS1c.1108C>T (p.Pro370Ser)
c.1126C>T (p.Pro376Ser)
c.1141C>T (p.Pro381Ser)
n.2020C>T
2g.210592902delCA916081387CPS1c.1110del (p.Phe371SerfsTer15)
c.1128del (p.Phe377SerfsTer15)
c.1143del (p.Phe382SerfsTer15)
n.2022del
 ClinVar dbSNP
2g.210592901C>ACA2086254CPS1c.1109C>A (p.Pro370His)
c.1127C>A (p.Pro376His)
c.1142C>A (p.Pro381His)
n.2021C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.210592901C=CA1325073327CPS1c.1109C= (p.Pro370=)
c.1127C= (p.Pro376=)
c.1142C= (p.Pro381=)
n.2021C=
2g.210592901C>GCA2086255CPS1c.1109C>G (p.Pro370Arg)
c.1127C>G (p.Pro376Arg)
c.1142C>G (p.Pro381Arg)
n.2021C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.210592901C>TCA2086256CPS1c.1109C>T (p.Pro370Leu)
c.1127C>T (p.Pro376Leu)
c.1142C>T (p.Pro381Leu)
n.2021C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.210592902C>ACA431011608CPS1c.1110C>A (p.Pro370=)
c.1128C>A (p.Pro376=)
c.1143C>A (p.Pro381=)
n.2022C>A
2g.210592902C=CA1325073328CPS1c.1110C= (p.Pro370=)
c.1128C= (p.Pro376=)
c.1143C= (p.Pro381=)
n.2022C=
2g.210592902C>GCA431011609CPS1c.1110C>G (p.Pro370=)
c.1128C>G (p.Pro376=)
c.1143C>G (p.Pro381=)
n.2022C>G
2g.210592902C>TCA2086257CPS1c.1110C>T (p.Pro370=)
c.1128C>T (p.Pro376=)
c.1143C>T (p.Pro381=)
n.2022C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.210592906_210592908dupCA2662934002CPS1c.1114_1116dup (p.Phe372_Ala373insPhe)
c.1132_1134dup (p.Phe378_Ala379insPhe)
c.1147_1149dup (p.Phe383_Ala384insPhe)
n.2026_2028dup
 gnomAD v4
2g.210592903T>ACA350430759CPS1c.1111T>A (p.Phe371Ile)
c.1129T>A (p.Phe377Ile)
c.1144T>A (p.Phe382Ile)
n.2023T>A
2g.210592903T>CCA350430758CPS1c.1111T>C (p.Phe371Leu)
c.1129T>C (p.Phe377Leu)
c.1144T>C (p.Phe382Leu)
n.2023T>C
2g.210592903T>GCA350430757CPS1c.1111T>G (p.Phe371Val)
c.1129T>G (p.Phe377Val)
c.1144T>G (p.Phe382Val)
n.2023T>G
2g.210592904delCA2499215592CPS1c.1112del (p.Phe371SerfsTer15)
c.1130del (p.Phe377SerfsTer15)
c.1145del (p.Phe382SerfsTer15)
n.2024del
 ClinVar dbSNP gnomAD v4
2g.210592904T>ACA350430760CPS1c.1112T>A (p.Phe371Tyr)
c.1130T>A (p.Phe377Tyr)
c.1145T>A (p.Phe382Tyr)
n.2024T>A
2g.210592904T>CCA2086258CPS1c.1112T>C (p.Phe371Ser)
c.1130T>C (p.Phe377Ser)
c.1145T>C (p.Phe382Ser)
n.2024T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.210592904T>GCA350430761CPS1c.1112T>G (p.Phe371Cys)
c.1130T>G (p.Phe377Cys)
c.1145T>G (p.Phe382Cys)
n.2024T>G
2g.210592904T=CA1325073329CPS1c.1112T= (p.Phe371=)
c.1130T= (p.Phe377=)
c.1145T= (p.Phe382=)
n.2024T=
2g.210592905C>ACA350430762CPS1c.1113C>A (p.Phe371Leu)
c.1131C>A (p.Phe377Leu)
c.1146C>A (p.Phe382Leu)
n.2025C>A
 COSMIC COSMIC
2g.210592905C=CA1325073330CPS1c.1113C= (p.Phe371=)
c.1131C= (p.Phe377=)
c.1146C= (p.Phe382=)
n.2025C=
2g.210592905C>GCA2086259CPS1c.1113C>G (p.Phe371Leu)
c.1131C>G (p.Phe377Leu)
c.1146C>G (p.Phe382Leu)
n.2025C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.210592905C>TCA431011610CPS1c.1113C>T (p.Phe371=)
c.1131C>T (p.Phe377=)
c.1146C>T (p.Phe382=)
n.2025C>T
 gnomAD v4
2g.210592906T>ACA350430766CPS1c.1114T>A (p.Phe372Ile)
c.1132T>A (p.Phe378Ile)
c.1147T>A (p.Phe383Ile)
n.2026T>A
2g.210592906T>CCA350430767CPS1c.1114T>C (p.Phe372Leu)
c.1132T>C (p.Phe378Leu)
c.1147T>C (p.Phe383Leu)
n.2026T>C
2g.210592906T>GCA350430770CPS1c.1114T>G (p.Phe372Val)
c.1132T>G (p.Phe378Val)
c.1147T>G (p.Phe383Val)
n.2026T>G
 gnomAD v4
2g.210592907T>ACA350430773CPS1c.1115T>A (p.Phe372Tyr)
c.1133T>A (p.Phe378Tyr)
c.1148T>A (p.Phe383Tyr)
n.2027T>A
 dbSNP
2g.210592907T>CCA350430775CPS1c.1115T>C (p.Phe372Ser)
c.1133T>C (p.Phe378Ser)
c.1148T>C (p.Phe383Ser)
n.2027T>C
2g.210592907T>GCA350430777CPS1c.1115T>G (p.Phe372Cys)
c.1133T>G (p.Phe378Cys)
c.1148T>G (p.Phe383Cys)
n.2027T>G
2g.210592907T=CA1325073331CPS1c.1115T= (p.Phe372=)
c.1133T= (p.Phe378=)
c.1148T= (p.Phe383=)
n.2027T=
2g.210592908C>ACA350430781CPS1c.1116C>A (p.Phe372Leu)
c.1134C>A (p.Phe378Leu)
c.1149C>A (p.Phe383Leu)
n.2028C>A
 gnomAD v4
2g.210592908C=CA1325073332CPS1c.1116C= (p.Phe372=)
c.1134C= (p.Phe378=)
c.1149C= (p.Phe383=)
n.2028C=
2g.210592908C>GCA350430783CPS1c.1116C>G (p.Phe372Leu)
c.1134C>G (p.Phe378Leu)
c.1149C>G (p.Phe383Leu)
n.2028C>G
2g.210592908C>TCA2086260CPS1c.1116C>T (p.Phe372=)
c.1134C>T (p.Phe378=)
c.1149C>T (p.Phe383=)
n.2028C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.210592909G>ACA350430785CPS1c.1117G>A (p.Ala373Thr)
c.1135G>A (p.Ala379Thr)
c.1150G>A (p.Ala384Thr)
n.2029G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.210592909G>CCA350430787CPS1c.1117G>C (p.Ala373Pro)
c.1135G>C (p.Ala379Pro)
c.1150G>C (p.Ala384Pro)
n.2029G>C
 gnomAD v4
2g.210592909G=CA1325073333CPS1c.1117G= (p.Ala373=)
c.1135G= (p.Ala379=)
c.1150G= (p.Ala384=)
n.2029G=
2g.210592909G>TCA350430790CPS1c.1117G>T (p.Ala373Ser)
c.1135G>T (p.Ala379Ser)
c.1150G>T (p.Ala384Ser)
n.2029G>T
 dbSNP gnomAD v3 gnomAD v4
2g.210592910C>ACA350430792CPS1c.1118C>A (p.Ala373Asp)
c.1136C>A (p.Ala379Asp)
c.1151C>A (p.Ala384Asp)
n.2030C>A
2g.210592910C>GCA350430794CPS1c.1118C>G (p.Ala373Gly)
c.1136C>G (p.Ala379Gly)
c.1151C>G (p.Ala384Gly)
n.2030C>G
 gnomAD v4
2g.210592910C>TCA350430796CPS1c.1118C>T (p.Ala373Val)
c.1136C>T (p.Ala379Val)
c.1151C>T (p.Ala384Val)
n.2030C>T
 gnomAD v4
2g.210592911T>ACA431011611CPS1c.1119T>A (p.Ala373=)
c.1137T>A (p.Ala379=)
c.1152T>A (p.Ala384=)
n.2031T>A
2g.210592911T>CCA431011612CPS1c.1119T>C (p.Ala373=)
c.1137T>C (p.Ala379=)
c.1152T>C (p.Ala384=)
n.2031T>C
 gnomAD v4
2g.210592911T>GCA431011613CPS1c.1119T>G (p.Ala373=)
c.1137T>G (p.Ala379=)
c.1152T>G (p.Ala384=)
n.2031T>G
2g.210592912G>ACA350430799CPS1c.1120G>A (p.Val374Met)
c.1138G>A (p.Val380Met)
c.1153G>A (p.Val385Met)
n.2032G>A
2g.210592912G>CCA350430800CPS1c.1120G>C (p.Val374Leu)
c.1138G>C (p.Val380Leu)
c.1153G>C (p.Val385Leu)
n.2032G>C
2g.210592912G>TCA350430801CPS1c.1120G>T (p.Val374Leu)
c.1138G>T (p.Val380Leu)
c.1153G>T (p.Val385Leu)
n.2032G>T
2g.210592912_210592916delinsGTGCACA1325073334CPS1c.1120_1124delinsGTGCA (p.Val374=)
c.1138_1142delinsGTGCA (p.Val380=)
c.1153_1157delinsGTGCA (p.Val385=)
n.2032_2036delinsGTGCA
2g.210592913T>ACA350430803CPS1c.1121T>A (p.Val374Glu)
c.1139T>A (p.Val380Glu)
c.1154T>A (p.Val385Glu)
n.2033T>A
2g.210592913T>CCA350430805CPS1c.1121T>C (p.Val374Ala)
c.1139T>C (p.Val380Ala)
c.1154T>C (p.Val385Ala)
n.2033T>C
 dbSNP gnomAD v3 gnomAD v4
2g.210592913T>GCA350430807CPS1c.1121T>G (p.Val374Gly)
c.1139T>G (p.Val380Gly)
c.1154T>G (p.Val385Gly)
n.2033T>G
2g.210592913T=CA1325073335CPS1c.1121T= (p.Val374=)
c.1139T= (p.Val380=)
c.1154T= (p.Val385=)
n.2033T=
2g.210592913_210592916delCA2086261CPS1c.1121_1124del (p.Val374GlyfsTer11)
c.1139_1142del (p.Val380GlyfsTer11)
c.1154_1157del (p.Val385GlyfsTer11)
n.2033_2036del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.210592914G>ACA431011614CPS1c.1122G>A (p.Val374=)
c.1140G>A (p.Val380=)
c.1155G>A (p.Val385=)
n.2034G>A
 dbSNP gnomAD v2 gnomAD v4
2g.210592914G>CCA431011615CPS1c.1122G>C (p.Val374=)
c.1140G>C (p.Val380=)
c.1155G>C (p.Val385=)
n.2034G>C
2g.210592914G=CA1325073336CPS1c.1122G= (p.Val374=)
c.1140G= (p.Val380=)
c.1155G= (p.Val385=)
n.2034G=
2g.210592914G>TCA2086262CPS1c.1122G>T (p.Val374=)
c.1140G>T (p.Val380=)
c.1155G>T (p.Val385=)
n.2034G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.210592915C>ACA350430812CPS1c.1123C>A (p.Gln375Lys)
c.1141C>A (p.Gln381Lys)
c.1156C>A (p.Gln386Lys)
n.2035C>A
2g.210592915C>GCA350430814CPS1c.1123C>G (p.Gln375Glu)
c.1141C>G (p.Gln381Glu)
c.1156C>G (p.Gln386Glu)
n.2035C>G
2g.210592915C>TCA350430816CPS1c.1123C>T (p.Gln375Ter)
c.1141C>T (p.Gln381Ter)
c.1156C>T (p.Gln386Ter)
n.2035C>T
 ClinVar gnomAD v4
2g.210592916A>CCA350430818CPS1c.1124A>C (p.Gln375Pro)
c.1142A>C (p.Gln381Pro)
c.1157A>C (p.Gln386Pro)
n.2036A>C
2g.210592916A>GCA350430821CPS1c.1124A>G (p.Gln375Arg)
c.1142A>G (p.Gln381Arg)
c.1157A>G (p.Gln386Arg)
n.2036A>G
2g.210592916A>TCA350430822CPS1c.1124A>T (p.Gln375Leu)
c.1142A>T (p.Gln381Leu)
c.1157A>T (p.Gln386Leu)
n.2036A>T
2g.210592917G>ACA431011617CPS1c.1125G>A (p.Gln375=)
c.1143G>A (p.Gln381=)
c.1158G>A (p.Gln386=)
n.2037G>A
 dbSNP gnomAD v3 gnomAD v4
2g.210592917G>CCA350430824CPS1c.1125G>C (p.Gln375His)
c.1143G>C (p.Gln381His)
c.1158G>C (p.Gln386His)
n.2037G>C
2g.210592917G=CA1325073337CPS1c.1125G= (p.Gln375=)
c.1143G= (p.Gln381=)
c.1158G= (p.Gln386=)
n.2037G=
2g.210592917G>TCA64742286CPS1c.1125G>T (p.Gln375His)
c.1143G>T (p.Gln381His)
c.1158G>T (p.Gln386His)
n.2037G>T
 dbSNP gnomAD v4
2g.210592918T>ACA350430829CPS1c.1126T>A (p.Phe376Ile)
c.1144T>A (p.Phe382Ile)
c.1159T>A (p.Phe387Ile)
n.2038T>A
2g.210592918T>CCA350430830CPS1c.1126T>C (p.Phe376Leu)
c.1144T>C (p.Phe382Leu)
c.1159T>C (p.Phe387Leu)
n.2038T>C
2g.210592918T>GCA350430831CPS1c.1126T>G (p.Phe376Val)
c.1144T>G (p.Phe382Val)
c.1159T>G (p.Phe387Val)
n.2038T>G
2g.210592919T>ACA350430833CPS1c.1127T>A (p.Phe376Tyr)
c.1145T>A (p.Phe382Tyr)
c.1160T>A (p.Phe387Tyr)
n.2039T>A
2g.210592919T>CCA350430835CPS1c.1127T>C (p.Phe376Ser)
c.1145T>C (p.Phe382Ser)
c.1160T>C (p.Phe387Ser)
n.2039T>C
2g.210592919T>GCA350430837CPS1c.1127T>G (p.Phe376Cys)
c.1145T>G (p.Phe382Cys)
c.1160T>G (p.Phe387Cys)
n.2039T>G
 gnomAD v4
2g.210592920C>ACA350430839CPS1c.1128C>A (p.Phe376Leu)
c.1146C>A (p.Phe382Leu)
c.1161C>A (p.Phe387Leu)
n.2040C>A
2g.210592920C=CA1325073338CPS1c.1128C= (p.Phe376=)
c.1146C= (p.Phe382=)
c.1161C= (p.Phe387=)
n.2040C=
2g.210592920C>GCA350430841CPS1c.1128C>G (p.Phe376Leu)
c.1146C>G (p.Phe382Leu)
c.1161C>G (p.Phe387Leu)
n.2040C>G
 dbSNP
2g.210592920C>TCA431011618CPS1c.1128C>T (p.Phe376=)
c.1146C>T (p.Phe382=)
c.1161C>T (p.Phe387=)
n.2040C>T
2g.210592921delCA2754107015CPS1c.1129del (p.His377ThrfsTer9)
c.1147del (p.His383ThrfsTer9)
c.1162del (p.His388ThrfsTer9)
n.2041del
2g.210592921C>ACA350430844CPS1c.1129C>A (p.His377Asn)
c.1147C>A (p.His383Asn)
c.1162C>A (p.His388Asn)
n.2041C>A
2g.210592921C>GCA350430846CPS1c.1129C>G (p.His377Asp)
c.1147C>G (p.His383Asp)
c.1162C>G (p.His388Asp)
n.2041C>G
2g.210592921C>TCA350430848CPS1c.1129C>T (p.His377Tyr)
c.1147C>T (p.His383Tyr)
c.1162C>T (p.His388Tyr)
n.2041C>T
 gnomAD v4
2g.210592922A>CCA350430851CPS1c.1130A>C (p.His377Pro)
c.1148A>C (p.His383Pro)
c.1163A>C (p.His388Pro)
n.2042A>C
2g.210592922A>GCA350430853CPS1c.1130A>G (p.His377Arg)
c.1148A>G (p.His383Arg)
c.1163A>G (p.His388Arg)
n.2042A>G
2g.210592922A>TCA350430854CPS1c.1130A>T (p.His377Leu)
c.1148A>T (p.His383Leu)
c.1163A>T (p.His388Leu)
n.2042A>T
2g.210592923C>ACA350430859CPS1c.1131C>A (p.His377Gln)
c.1149C>A (p.His383Gln)
c.1164C>A (p.His388Gln)
n.2043C>A
2g.210592923C=CA1325073339CPS1c.1131C= (p.His377=)
c.1149C= (p.His383=)
c.1164C= (p.His388=)
n.2043C=
2g.210592923C>GCA350430857CPS1c.1131C>G (p.His377Gln)
c.1149C>G (p.His383Gln)
c.1164C>G (p.His388Gln)
n.2043C>G
2g.210592923C>TCA2086263CPS1c.1131C>T (p.His377=)
c.1149C>T (p.His383=)
c.1164C>T (p.His388=)
n.2043C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.210592924C>ACA350430862CPS1c.1132C>A (p.Pro378Thr)
c.1150C>A (p.Pro384Thr)
c.1165C>A (p.Pro389Thr)
n.2044C>A
2g.210592924C=CA1325073340CPS1c.1132C= (p.Pro378=)
c.1150C= (p.Pro384=)
c.1165C= (p.Pro389=)
n.2044C=
2g.210592924C>GCA350430864CPS1c.1132C>G (p.Pro378Ala)
c.1150C>G (p.Pro384Ala)
c.1165C>G (p.Pro389Ala)
n.2044C>G
 dbSNP gnomAD v4
2g.210592924C>TCA350430866CPS1c.1132C>T (p.Pro378Ser)
c.1150C>T (p.Pro384Ser)
c.1165C>T (p.Pro389Ser)
n.2044C>T
 gnomAD v4
2g.210592925C>ACA350430869CPS1c.1133C>A (p.Pro378Gln)
c.1151C>A (p.Pro384Gln)
c.1166C>A (p.Pro389Gln)
n.2045C>A
2g.210592925C>GCA350430871CPS1c.1133C>G (p.Pro378Arg)
c.1151C>G (p.Pro384Arg)
c.1166C>G (p.Pro389Arg)
n.2045C>G
2g.210592925C>TCA350430873CPS1c.1133C>T (p.Pro378Leu)
c.1151C>T (p.Pro384Leu)
c.1166C>T (p.Pro389Leu)
n.2045C>T
2g.210592926A=CA1325073341CPS1c.1134A= (p.Pro378=)
c.1152A= (p.Pro384=)
c.1167A= (p.Pro389=)
n.2046A=
2g.210592926A>CCA431011619CPS1c.1134A>C (p.Pro378=)
c.1152A>C (p.Pro384=)
c.1167A>C (p.Pro389=)
n.2046A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.210592926A>GCA431011620CPS1c.1134A>G (p.Pro378=)
c.1152A>G (p.Pro384=)
c.1167A>G (p.Pro389=)
n.2046A>G
2g.210592926A>TCA431011621CPS1c.1134A>T (p.Pro378=)
c.1152A>T (p.Pro384=)
c.1167A>T (p.Pro389=)
n.2046A>T
 COSMIC
2g.210592927G>ACA350430876CPS1c.1135G>A (p.Glu379Lys)
c.1153G>A (p.Glu385Lys)
c.1168G>A (p.Glu390Lys)
n.2047G>A
2g.210592927G>CCA350430879CPS1c.1135G>C (p.Glu379Gln)
c.1153G>C (p.Glu385Gln)
c.1168G>C (p.Glu390Gln)
n.2047G>C
2g.210592927G>TCA350430878CPS1c.1135G>T (p.Glu379Ter)
c.1153G>T (p.Glu385Ter)
c.1168G>T (p.Glu390Ter)
n.2047G>T
2g.210592928A=CA1325073342CPS1c.1136A= (p.Glu379=)
c.1154A= (p.Glu385=)
c.1169A= (p.Glu390=)
n.2048A=
2g.210592928A>CCA350430881CPS1c.1136A>C (p.Glu379Ala)
c.1154A>C (p.Glu385Ala)
c.1169A>C (p.Glu390Ala)
n.2048A>C
2g.210592928A>GCA350430884CPS1c.1136A>G (p.Glu379Gly)
c.1154A>G (p.Glu385Gly)
c.1169A>G (p.Glu390Gly)
n.2048A>G
2g.210592928A>TCA2086264CPS1c.1136A>T (p.Glu379Val)
c.1154A>T (p.Glu385Val)
c.1169A>T (p.Glu390Val)
n.2048A>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.210592929G>ACA431011622CPS1c.1137G>A (p.Glu379=)
c.1155G>A (p.Glu385=)
c.1170G>A (p.Glu390=)
n.2049G>A
 dbSNP gnomAD v3 gnomAD v4
2g.210592929G>CCA2086265CPS1c.1137G>C (p.Glu379Asp)
c.1155G>C (p.Glu385Asp)
c.1170G>C (p.Glu390Asp)
n.2049G>C
 dbSNP ExAC gnomAD v4
2g.210592929G=CA1325073343CPS1c.1137G= (p.Glu379=)
c.1155G= (p.Glu385=)
c.1170G= (p.Glu390=)
n.2049G=
2g.210592929G>TCA350430889CPS1c.1137G>T (p.Glu379Asp)
c.1155G>T (p.Glu385Asp)
c.1170G>T (p.Glu390Asp)
n.2049G>T
2g.210592930G>ACA350430892CPS1c.1138G>A (p.Val380Ile)
c.1156G>A (p.Val386Ile)
c.1171G>A (p.Val391Ile)
n.2050G>A
2g.210592930G>CCA350430894CPS1c.1138G>C (p.Val380Leu)
c.1156G>C (p.Val386Leu)
c.1171G>C (p.Val391Leu)
n.2050G>C
2g.210592930G>TCA350430895CPS1c.1138G>T (p.Val380Phe)
c.1156G>T (p.Val386Phe)
c.1171G>T (p.Val391Phe)
n.2050G>T
2g.210592931T>ACA350430898CPS1c.1139T>A (p.Val380Asp)
c.1157T>A (p.Val386Asp)
c.1172T>A (p.Val391Asp)
n.2051T>A
2g.210592931T>CCA350430900CPS1c.1139T>C (p.Val380Ala)
c.1157T>C (p.Val386Ala)
c.1172T>C (p.Val391Ala)
n.2051T>C
 ClinVar dbSNP
2g.210592931T>GCA350430902CPS1c.1139T>G (p.Val380Gly)
c.1157T>G (p.Val386Gly)
c.1172T>G (p.Val391Gly)
n.2051T>G
2g.210592931_210592933delCA2662934003CPS1c.1139_1141del (p.Val380_Thr381delinsAla)
c.1157_1159del (p.Val386_Thr387delinsAla)
c.1172_1174del (p.Val391_Thr392delinsAla)
n.2051_2053del
 gnomAD v4
2g.210592931_210592932insTTACCACTCATTGCAGGGTAAGCAGCTGTTGAAGAACTTCGTTGTGAATATCTGTGGTAGCAAGCAGGAGTGGAGTGCAGCTTCATTCGTAGAGAGTGCTGTTCAGGAGATTCGAGAGCAGGTGGGTAACA2509542112CPS1c.1139_1140insTTACCACTCATTGCAGGGTAAGCAGCTGTTGAAGAACTTCGTTGTGAATATCTGTGGTAGCAAGCAGGAGTGGAGTGCAGCTTCATTCGTAGAGAGTGCTGTTCAGGAGATTCGAGAGCAGGTGGGTAA (p.Val380_Thr381insTyrHisSerLeuGlnGlyLysGlnLeuLeuLysAsnPheValValAsnIleCysGlySerLysGlnGluTrpSerAlaAlaSerPheValGluSerAlaValGlnGluIleArgGluGlnValGlyAsn)
c.1157_1158insTTACCACTCATTGCAGGGTAAGCAGCTGTTGAAGAACTTCGTTGTGAATATCTGTGGTAGCAAGCAGGAGTGGAGTGCAGCTTCATTCGTAGAGAGTGCTGTTCAGGAGATTCGAGAGCAGGTGGGTAA (p.Val386_Thr387insTyrHisSerLeuGlnGlyLysGlnLeuLeuLysAsnPheValValAsnIleCysGlySerLysGlnGluTrpSerAlaAlaSerPheValGluSerAlaValGlnGluIleArgGluGlnValGlyAsn)
c.1172_1173insTTACCACTCATTGCAGGGTAAGCAGCTGTTGAAGAACTTCGTTGTGAATATCTGTGGTAGCAAGCAGGAGTGGAGTGCAGCTTCATTCGTAGAGAGTGCTGTTCAGGAGATTCGAGAGCAGGTGGGTAA (p.Val391_Thr392insTyrHisSerLeuGlnGlyLysGlnLeuLeuLysAsnPheValValAsnIleCysGlySerLysGlnGluTrpSerAlaAlaSerPheValGluSerAlaValGlnGluIleArgGluGlnValGlyAsn)
n.2051_2052insTTACCACTCATTGCAGGGTAAGCAGCTGTTGAAGAACTTCGTTGTGAATATCTGTGGTAGCAAGCAGGAGTGGAGTGCAGCTTCATTCGTAGAGAGTGCTGTTCAGGAGATTCGAGAGCAGGTGGGTAA
2g.210592932C>ACA431011623CPS1c.1140C>A (p.Val380=)
c.1158C>A (p.Val386=)
c.1173C>A (p.Val391=)
n.2052C>A
 ClinVar
2g.210592932C>GCA431011624CPS1c.1140C>G (p.Val380=)
c.1158C>G (p.Val386=)
c.1173C>G (p.Val391=)
n.2052C>G
2g.210592932C>TCA431011625CPS1c.1140C>T (p.Val380=)
c.1158C>T (p.Val386=)
c.1173C>T (p.Val391=)
n.2052C>T
2g.210592932_210592941delinsCACCCCGGGGCA1325073344CPS1c.1140_1149delinsCACCCCGGGG (p.Val380=)
c.1158_1167delinsCACCCCGGGG (p.Val386=)
c.1173_1182delinsCACCCCGGGG (p.Val391=)
n.2052_2061delinsCACCCCGGGG
2g.210592933A>CCA350430905CPS1c.1141A>C (p.Thr381Pro)
c.1159A>C (p.Thr387Pro)
c.1174A>C (p.Thr392Pro)
n.2053A>C
2g.210592933A>GCA350430909CPS1c.1141A>G (p.Thr381Ala)
c.1159A>G (p.Thr387Ala)
c.1174A>G (p.Thr392Ala)
n.2053A>G
2g.210592933A>TCA350430907CPS1c.1141A>T (p.Thr381Ser)
c.1159A>T (p.Thr387Ser)
c.1174A>T (p.Thr392Ser)
n.2053A>T
2g.210592933_210592941delCA1325073345CPS1c.1141_1149del (p.Thr381_Gly383del)
c.1159_1167del (p.Thr387_Gly389del)
c.1174_1182del (p.Thr392_Gly394del)
n.2053_2061del
 ClinVar dbSNP
2g.210592934C>ACA350430913CPS1c.1142C>A (p.Thr381Asn)
c.1160C>A (p.Thr387Asn)
c.1175C>A (p.Thr392Asn)
n.2054C>A
 ClinVar
2g.210592934C>GCA350430915CPS1c.1142C>G (p.Thr381Ser)
c.1160C>G (p.Thr387Ser)
c.1175C>G (p.Thr392Ser)
n.2054C>G
 gnomAD v4
2g.210592934C>TCA350430917CPS1c.1142C>T (p.Thr381Ile)
c.1160C>T (p.Thr387Ile)
c.1175C>T (p.Thr392Ile)
n.2054C>T
2g.210592935C>ACA431011626CPS1c.1143C>A (p.Thr381=)
c.1161C>A (p.Thr387=)
c.1176C>A (p.Thr392=)
n.2055C>A
2g.210592935C=CA1325073346CPS1c.1143C= (p.Thr381=)
c.1161C= (p.Thr387=)
c.1176C= (p.Thr392=)
n.2055C=
2g.210592935C>GCA431011627CPS1c.1143C>G (p.Thr381=)
c.1161C>G (p.Thr387=)
c.1176C>G (p.Thr392=)
n.2055C>G
2g.210592935C>TCA2086266CPS1c.1143C>T (p.Thr381=)
c.1161C>T (p.Thr387=)
c.1176C>T (p.Thr392=)
n.2055C>T
 dbSNP ExAC gnomAD v2
2g.210592936C>ACA350430922CPS1c.1144C>A (p.Pro382Thr)
c.1162C>A (p.Pro388Thr)
c.1177C>A (p.Pro393Thr)
n.2056C>A
2g.210592936C>GCA350430924CPS1c.1144C>G (p.Pro382Ala)
c.1162C>G (p.Pro388Ala)
c.1177C>G (p.Pro393Ala)
n.2056C>G
2g.210592936C>TCA350430926CPS1c.1144C>T (p.Pro382Ser)
c.1162C>T (p.Pro388Ser)
c.1177C>T (p.Pro393Ser)
n.2056C>T
2g.210592938_210592943delCA2662934004CPS1c.1146_1151del (p.Gly383_Pro384del)
c.1164_1169del (p.Gly389_Pro390del)
c.1179_1184del (p.Gly394_Pro395del)
n.2058_2063del
 gnomAD v4
2g.210592937C>ACA350430928CPS1c.1145C>A (p.Pro382Gln)
c.1163C>A (p.Pro388Gln)
c.1178C>A (p.Pro393Gln)
n.2057C>A
 COSMIC COSMIC
2g.210592937C=CA1325073347CPS1c.1145C= (p.Pro382=)
c.1163C= (p.Pro388=)
c.1178C= (p.Pro393=)
n.2057C=
2g.210592937C>GCA350430930CPS1c.1145C>G (p.Pro382Arg)
c.1163C>G (p.Pro388Arg)
c.1178C>G (p.Pro393Arg)
n.2057C>G
2g.210592937C>TCA2086267CPS1c.1145C>T (p.Pro382Leu)
c.1163C>T (p.Pro388Leu)
c.1178C>T (p.Pro393Leu)
n.2057C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.210592938G>ACA2086268CPS1c.1146G>A (p.Pro382=)
c.1164G>A (p.Pro388=)
c.1179G>A (p.Pro393=)
n.2058G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.210592938G>CCA431011629CPS1c.1146G>C (p.Pro382=)
c.1164G>C (p.Pro388=)
c.1179G>C (p.Pro393=)
n.2058G>C
2g.210592938G=CA1325073348CPS1c.1146G= (p.Pro382=)
c.1164G= (p.Pro388=)
c.1179G= (p.Pro393=)
n.2058G=
2g.210592938G>TCA431011628CPS1c.1146G>T (p.Pro382=)
c.1164G>T (p.Pro388=)
c.1179G>T (p.Pro393=)
n.2058G>T
 ClinVar
2g.210592941dupCA2577231468CPS1c.1149dup (p.Pro384AlafsTer5)
c.1167dup (p.Pro390AlafsTer5)
c.1182dup (p.Pro395AlafsTer5)
n.2061dup
2g.210592939G>ACA350430940CPS1c.1147G>A (p.Gly383Arg)
c.1165G>A (p.Gly389Arg)
c.1180G>A (p.Gly394Arg)
n.2059G>A
2g.210592939G>CCA350430938CPS1c.1147G>C (p.Gly383Arg)
c.1165G>C (p.Gly389Arg)
c.1180G>C (p.Gly394Arg)
n.2059G>C
2g.210592939G>TCA350430935CPS1c.1147G>T (p.Gly383Trp)
c.1165G>T (p.Gly389Trp)
c.1180G>T (p.Gly394Trp)
n.2059G>T
 gnomAD v4
2g.210592940G>ACA350430942CPS1c.1148G>A (p.Gly383Glu)
c.1166G>A (p.Gly389Glu)
c.1181G>A (p.Gly394Glu)
n.2060G>A
2g.210592940G>CCA350430944CPS1c.1148G>C (p.Gly383Ala)
c.1166G>C (p.Gly389Ala)
c.1181G>C (p.Gly394Ala)
n.2060G>C
2g.210592940G>TCA350430945CPS1c.1148G>T (p.Gly383Val)
c.1166G>T (p.Gly389Val)
c.1181G>T (p.Gly394Val)
n.2060G>T
2g.210592941G>ACA431011630CPS1c.1149G>A (p.Gly383=)
c.1167G>A (p.Gly389=)
c.1182G>A (p.Gly394=)
n.2061G>A
2g.210592941G>CCA431011632CPS1c.1149G>C (p.Gly383=)
c.1167G>C (p.Gly389=)
c.1182G>C (p.Gly394=)
n.2061G>C
2g.210592941G>TCA431011631CPS1c.1149G>T (p.Gly383=)
c.1167G>T (p.Gly389=)
c.1182G>T (p.Gly394=)
n.2061G>T
2g.210592942C>ACA350430948CPS1c.1150C>A (p.Pro384Thr)
c.1168C>A (p.Pro390Thr)
c.1183C>A (p.Pro395Thr)
n.2062C>A
 ClinVar dbSNP gnomAD v4
2g.210592942C>GCA350430950CPS1c.1150C>G (p.Pro384Ala)
c.1168C>G (p.Pro390Ala)
c.1183C>G (p.Pro395Ala)
n.2062C>G
2g.210592942C>TCA350430952CPS1c.1150C>T (p.Pro384Ser)
c.1168C>T (p.Pro390Ser)
c.1183C>T (p.Pro395Ser)
n.2062C>T
2g.210592943C>ACA2086269CPS1c.1151C>A (p.Pro384Gln)
c.1169C>A (p.Pro390Gln)
c.1184C>A (p.Pro395Gln)
n.2063C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.210592943C=CA1325073349CPS1c.1151C= (p.Pro384=)
c.1169C= (p.Pro390=)
c.1184C= (p.Pro395=)
n.2063C=
2g.210592943C>GCA350430957CPS1c.1151C>G (p.Pro384Arg)
c.1169C>G (p.Pro390Arg)
c.1184C>G (p.Pro395Arg)
n.2063C>G
2g.210592943C>TCA350430959CPS1c.1151C>T (p.Pro384Leu)
c.1169C>T (p.Pro390Leu)
c.1184C>T (p.Pro395Leu)
n.2063C>T
2g.210592944A>CCA431011634CPS1c.1152A>C (p.Pro384=)
c.1170A>C (p.Pro390=)
c.1185A>C (p.Pro395=)
n.2064A>C
2g.210592944A>GCA431011635CPS1c.1152A>G (p.Pro384=)
c.1170A>G (p.Pro390=)
c.1185A>G (p.Pro395=)
n.2064A>G
2g.210592944A>TCA431011636CPS1c.1152A>T (p.Pro384=)
c.1170A>T (p.Pro390=)
c.1185A>T (p.Pro395=)
n.2064A>T
2g.210592945A=CA1325073350CPS1c.1153A= (p.Ile385=)
c.1171A= (p.Ile391=)
c.1186A= (p.Ile396=)
n.2065A=
2g.210592945A>CCA350430961CPS1c.1153A>C (p.Ile385Leu)
c.1171A>C (p.Ile391Leu)
c.1186A>C (p.Ile396Leu)
n.2065A>C
2g.210592945A>GCA2086270CPS1c.1153A>G (p.Ile385Val)
c.1171A>G (p.Ile391Val)
c.1186A>G (p.Ile396Val)
n.2065A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.210592945A>TCA350430964CPS1c.1153A>T (p.Ile385Leu)
c.1171A>T (p.Ile391Leu)
c.1186A>T (p.Ile396Leu)
n.2065A>T
2g.210592946T>ACA350430970CPS1c.1154T>A (p.Ile385Lys)
c.1172T>A (p.Ile391Lys)
c.1187T>A (p.Ile396Lys)
n.2066T>A
2g.210592946T>CCA2086271CPS1c.1154T>C (p.Ile385Thr)
c.1172T>C (p.Ile391Thr)
c.1187T>C (p.Ile396Thr)
n.2066T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.210592946T>GCA350430968CPS1c.1154T>G (p.Ile385Arg)
c.1172T>G (p.Ile391Arg)
c.1187T>G (p.Ile396Arg)
n.2066T>G
2g.210592946T=CA1325073351CPS1c.1154T= (p.Ile385=)
c.1172T= (p.Ile391=)
c.1187T= (p.Ile396=)
n.2066T=
2g.210592947A>CCA431011637CPS1c.1155A>C (p.Ile385=)
c.1173A>C (p.Ile391=)
c.1188A>C (p.Ile396=)
n.2067A>C
 ClinVar dbSNP
2g.210592947A>GCA350430974CPS1c.1155A>G (p.Ile385Met)
c.1173A>G (p.Ile391Met)
c.1188A>G (p.Ile396Met)
n.2067A>G
2g.210592947A>TCA431011640CPS1c.1155A>T (p.Ile385=)
c.1173A>T (p.Ile391=)
c.1188A>T (p.Ile396=)
n.2067A>T
2g.210592948G>ACA350430976CPS1c.1156G>A (p.Asp386Asn)
c.1174G>A (p.Asp392Asn)
c.1189G>A (p.Asp397Asn)
n.2068G>A
 gnomAD v4
2g.210592948G>CCA350430981CPS1c.1156G>C (p.Asp386His)
c.1174G>C (p.Asp392His)
c.1189G>C (p.Asp397His)
n.2068G>C
2g.210592948G>TCA350430979CPS1c.1156G>T (p.Asp386Tyr)
c.1174G>T (p.Asp392Tyr)
c.1189G>T (p.Asp397Tyr)
n.2068G>T
2g.210592949A=CA1325073352CPS1c.1157A= (p.Asp386=)
c.1175A= (p.Asp392=)
c.1190A= (p.Asp397=)
n.2069A=
2g.210592949A>CCA350430983CPS1c.1157A>C (p.Asp386Ala)
c.1175A>C (p.Asp392Ala)
c.1190A>C (p.Asp397Ala)
n.2069A>C
2g.210592949A>GCA350430985CPS1c.1157A>G (p.Asp386Gly)
c.1175A>G (p.Asp392Gly)
c.1190A>G (p.Asp397Gly)
n.2069A>G
 dbSNP gnomAD v4
2g.210592949A>TCA350430987CPS1c.1157A>T (p.Asp386Val)
c.1175A>T (p.Asp392Val)
c.1190A>T (p.Asp397Val)
n.2069A>T
2g.210592950C>ACA350430989CPS1c.1158C>A (p.Asp386Glu)
c.1176C>A (p.Asp392Glu)
c.1191C>A (p.Asp397Glu)
n.2070C>A
2g.210592950C>GCA350430991CPS1c.1158C>G (p.Asp386Glu)
c.1176C>G (p.Asp392Glu)
c.1191C>G (p.Asp397Glu)
n.2070C>G
2g.210592950C>TCA431011643CPS1c.1158C>T (p.Asp386=)
c.1176C>T (p.Asp392=)
c.1191C>T (p.Asp397=)
n.2070C>T
2g.210592951A>CCA350430994CPS1c.1159A>C (p.Thr387Pro)
c.1177A>C (p.Thr393Pro)
c.1192A>C (p.Thr398Pro)
n.2071A>C
2g.210592951A>GCA350430996CPS1c.1159A>G (p.Thr387Ala)
c.1177A>G (p.Thr393Ala)
c.1192A>G (p.Thr398Ala)
n.2071A>G
 gnomAD v4
2g.210592951A>TCA350430998CPS1c.1159A>T (p.Thr387Ser)
c.1177A>T (p.Thr393Ser)
c.1192A>T (p.Thr398Ser)
n.2071A>T
2g.210592952C>ACA350431000CPS1c.1160C>A (p.Thr387Asn)
c.1178C>A (p.Thr393Asn)
c.1193C>A (p.Thr398Asn)
n.2072C>A
 dbSNP gnomAD v2 gnomAD v4
2g.210592952C=CA1325073353CPS1c.1160C= (p.Thr387=)
c.1178C= (p.Thr393=)
c.1193C= (p.Thr398=)
n.2072C=
2g.210592952C>GCA350431001CPS1c.1160C>G (p.Thr387Ser)
c.1178C>G (p.Thr393Ser)
c.1193C>G (p.Thr398Ser)
n.2072C>G
2g.210592952C>TCA350431003CPS1c.1160C>T (p.Thr387Ile)
c.1178C>T (p.Thr393Ile)
c.1193C>T (p.Thr398Ile)
n.2072C>T
 dbSNP
2g.210592953T>ACA431011647CPS1c.1161T>A (p.Thr387=)
c.1179T>A (p.Thr393=)
c.1194T>A (p.Thr398=)
n.2073T>A
 ClinVar
2g.210592953T>CCA431011648CPS1c.1161T>C (p.Thr387=)
c.1179T>C (p.Thr393=)
c.1194T>C (p.Thr398=)
n.2073T>C
 ClinVar dbSNP gnomAD v4
2g.210592953T>GCA431011649CPS1c.1161T>G (p.Thr387=)
c.1179T>G (p.Thr393=)
c.1194T>G (p.Thr398=)
n.2073T>G
2g.210592953T=CA1325073354CPS1c.1161T= (p.Thr387=)
c.1179T= (p.Thr393=)
c.1194T= (p.Thr398=)
n.2073T=
2g.210592954G>ACA350431009CPS1c.1162G>A (p.Glu388Lys)
c.1180G>A (p.Glu394Lys)
c.1195G>A (p.Glu399Lys)
n.2074G>A
2g.210592954G>CCA350431007CPS1c.1162G>C (p.Glu388Gln)
c.1180G>C (p.Glu394Gln)
c.1195G>C (p.Glu399Gln)
n.2074G>C
2g.210592954G>TCA350431005CPS1c.1162G>T (p.Glu388Ter)
c.1180G>T (p.Glu394Ter)
c.1195G>T (p.Glu399Ter)
n.2074G>T
2g.210592955A>CCA350431011CPS1c.1163A>C (p.Glu388Ala)
c.1181A>C (p.Glu394Ala)
c.1196A>C (p.Glu399Ala)
n.2075A>C
2g.210592955A>GCA350431013CPS1c.1163A>G (p.Glu388Gly)
c.1181A>G (p.Glu394Gly)
c.1196A>G (p.Glu399Gly)
n.2075A>G
2g.210592955A>TCA350431015CPS1c.1163A>T (p.Glu388Val)
c.1181A>T (p.Glu394Val)
c.1196A>T (p.Glu399Val)
n.2075A>T
2g.210592956G>ACA431011650CPS1c.1164G>A (p.Glu388=)
c.1182G>A (p.Glu394=)
c.1197G>A (p.Glu399=)
n.2076G>A
 dbSNP
2g.210592956G>CCA350431018CPS1c.1164G>C (p.Glu388Asp)
c.1182G>C (p.Glu394Asp)
c.1197G>C (p.Glu399Asp)
n.2076G>C
 dbSNP gnomAD v3 gnomAD v4
2g.210592956G=CA1325073355CPS1c.1164G= (p.Glu388=)
c.1182G= (p.Glu394=)
c.1197G= (p.Glu399=)
n.2076G=
2g.210592956G>TCA350431020CPS1c.1164G>T (p.Glu388Asp)
c.1182G>T (p.Glu394Asp)
c.1197G>T (p.Glu399Asp)
n.2076G>T
2g.210592957G>ACA350431023CPS1c.1164+1G>A (n.1164+1G>A)
c.1182+1G>A (n.1182+1G>A)
c.1197+1G>A (n.1197+1G>A)
n.2076+1G>A
 ClinVar gnomAD v4
2g.210592957G>CCA350431025CPS1c.1164+1G>C (n.1164+1G>C)
c.1182+1G>C (n.1182+1G>C)
c.1197+1G>C (n.1197+1G>C)
n.2076+1G>C
2g.210592957G>TCA350431026CPS1c.1164+1G>T (n.1164+1G>T)
c.1182+1G>T (n.1182+1G>T)
c.1197+1G>T (n.1197+1G>T)
n.2076+1G>T
2g.210592958delCA2577231470CPS1c.1164+2del (n.1164+2del)
c.1182+2del (n.1182+2del)
c.1197+2del (n.1197+2del)
n.2076+2del
2g.210592958T>ACA350431029CPS1c.1164+2T>A (n.1164+2T>A)
c.1182+2T>A (n.1182+2T>A)
c.1197+2T>A (n.1197+2T>A)
n.2076+2T>A
2g.210592958T>CCA350431030CPS1c.1164+2T>C (n.1164+2T>C)
c.1182+2T>C (n.1182+2T>C)
c.1197+2T>C (n.1197+2T>C)
n.2076+2T>C
 ClinVar dbSNP
2g.210592958T>GCA350431032CPS1c.1164+2T>G (n.1164+2T>G)
c.1182+2T>G (n.1182+2T>G)
c.1197+2T>G (n.1197+2T>G)
n.2076+2T>G
2g.210592959A=CA1325073356CPS1c.1164+3A= (n.1164+3A=)
c.1182+3A= (n.1182+3A=)
c.1197+3A= (n.1197+3A=)
n.2076+3A=
2g.210592959A>GCA2086272CPS1c.1164+3A>G (n.1164+3A>G)
c.1182+3A>G (n.1182+3A>G)
c.1197+3A>G (n.1197+3A>G)
n.2076+3A>G
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.210592960delCA2662934016CPS1c.1164+4del (n.1164+4del)
c.1182+4del (n.1182+4del)
c.1197+4del (n.1197+4del)
n.2076+4del
 gnomAD v4
2g.210592960C>ACA2662934017CPS1c.1164+4C>A (n.1164+4C>A)
c.1182+4C>A (n.1182+4C>A)
c.1197+4C>A (n.1197+4C>A)
n.2076+4C>A
 dbSNP gnomAD v4
2g.210592960C=CA1325073357CPS1c.1164+4C= (n.1164+4C=)
c.1182+4C= (n.1182+4C=)
c.1197+4C= (n.1197+4C=)
n.2076+4C=
2g.210592960C>GCA2086274CPS1c.1164+4C>G (n.1164+4C>G)
c.1182+4C>G (n.1182+4C>G)
c.1197+4C>G (n.1197+4C>G)
n.2076+4C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.210592960C>TCA2086273CPS1c.1164+4C>T (n.1164+4C>T)
c.1182+4C>T (n.1182+4C>T)
c.1197+4C>T (n.1197+4C>T)
n.2076+4C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.210592961G>ACA2086275CPS1c.1164+5G>A (n.1164+5G>A)
c.1182+5G>A (n.1182+5G>A)
c.1197+5G>A (n.1197+5G>A)
n.2076+5G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.210592961G>CCA431011654CPS1c.1164+5G>C (n.1164+5G>C)
c.1182+5G>C (n.1182+5G>C)
c.1197+5G>C (n.1197+5G>C)
n.2076+5G>C
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.210592961G=CA1325073358CPS1c.1164+5G= (n.1164+5G=)
c.1182+5G= (n.1182+5G=)
c.1197+5G= (n.1197+5G=)
n.2076+5G=
2g.210592961G>TCA2662934021CPS1c.1164+5G>T (n.1164+5G>T)
c.1182+5G>T (n.1182+5G>T)
c.1197+5G>T (n.1197+5G>T)
n.2076+5G>T
 gnomAD v4
2g.210592963C>ACA2662934022CPS1c.1164+7C>A (n.1164+7C>A)
c.1182+7C>A (n.1182+7C>A)
c.1197+7C>A (n.1197+7C>A)
n.2076+7C>A
 gnomAD v4
2g.210592964A>GCA2662934024CPS1c.1164+8A>G (n.1164+8A>G)
c.1182+8A>G (n.1182+8A>G)
c.1197+8A>G (n.1197+8A>G)
n.2076+8A>G
 gnomAD v4
2g.210592968_210592969insAAAAAAAACA2754107035CPS1c.1164+12_1164+13insAAAAAAAA (n.1164+12_1164+13insAAAAAAAA)
c.1182+12_1182+13insAAAAAAAA (n.1182+12_1182+13insAAAAAAAA)
c.1197+12_1197+13insAAAAAAAA (n.1197+12_1197+13insAAAAAAAA)
n.2076+12_2076+13insAAAAAAAA
2g.210592968delCA2580065523CPS1c.1164+12del (n.1164+12del)
c.1182+12del (n.1182+12del)
c.1197+12del (n.1197+12del)
n.2076+12del
 ClinVar gnomAD v4
2g.210592965A>GCA2511392446CPS1c.1164+9A>G (n.1164+9A>G)
c.1182+9A>G (n.1182+9A>G)
c.1197+9A>G (n.1197+9A>G)
n.2076+9A>G
 ClinVar dbSNP gnomAD v4
2g.210592966A=CA1325073359CPS1c.1164+10A= (n.1164+10A=)
c.1182+10A= (n.1182+10A=)
c.1197+10A= (n.1197+10A=)
n.2076+10A=
2g.210592966A>GCA539125352CPS1c.1164+10A>G (n.1164+10A>G)
c.1182+10A>G (n.1182+10A>G)
c.1197+10A>G (n.1197+10A>G)
n.2076+10A>G
 dbSNP gnomAD v2 gnomAD v4
2g.210592969G>CCA2086276CPS1c.1164+13G>C (n.1164+13G>C)
c.1182+13G>C (n.1182+13G>C)
c.1197+13G>C (n.1197+13G>C)
n.2076+13G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.210592969G=CA1325073360CPS1c.1164+13G= (n.1164+13G=)
c.1182+13G= (n.1182+13G=)
c.1197+13G= (n.1197+13G=)
n.2076+13G=
2g.210592969G>TCA2662934035CPS1c.1164+13G>T (n.1164+13G>T)
c.1182+13G>T (n.1182+13G>T)
c.1197+13G>T (n.1197+13G>T)
n.2076+13G>T
 gnomAD v4
2g.210592970A>GCA2662934037CPS1c.1164+14A>G (n.1164+14A>G)
c.1182+14A>G (n.1182+14A>G)
c.1197+14A>G (n.1197+14A>G)
n.2076+14A>G
 gnomAD v4
2g.210592970A>TCA2662934036CPS1c.1164+14A>T (n.1164+14A>T)
c.1182+14A>T (n.1182+14A>T)
c.1197+14A>T (n.1197+14A>T)
n.2076+14A>T
 gnomAD v4
2g.210592972G>ACA64742418CPS1c.1164+16G>A (n.1164+16G>A)
c.1182+16G>A (n.1182+16G>A)
c.1197+16G>A (n.1197+16G>A)
n.2076+16G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.210592972G>CCA2739278021CPS1c.1164+16G>C (n.1164+16G>C)
c.1182+16G>C (n.1182+16G>C)
c.1197+16G>C (n.1197+16G>C)
n.2076+16G>C
 ClinVar
2g.210592972G=CA1325073361CPS1c.1164+16G= (n.1164+16G=)
c.1182+16G= (n.1182+16G=)
c.1197+16G= (n.1197+16G=)
n.2076+16G=
2g.210592973A=CA1325073362CPS1c.1164+17A= (n.1164+17A=)
c.1182+17A= (n.1182+17A=)
c.1197+17A= (n.1197+17A=)
n.2076+17A=
2g.210592973A>GCA764169757CPS1c.1164+17A>G (n.1164+17A>G)
c.1182+17A>G (n.1182+17A>G)
c.1197+17A>G (n.1197+17A>G)
n.2076+17A>G
 dbSNP gnomAD v3 gnomAD v4
2g.210592974G>ACA2662934039CPS1c.1164+18G>A (n.1164+18G>A)
c.1182+18G>A (n.1182+18G>A)
c.1197+18G>A (n.1197+18G>A)
n.2076+18G>A
 gnomAD v4
2g.210592974G=CA1325073363CPS1c.1164+18G= (n.1164+18G=)
c.1182+18G= (n.1182+18G=)
c.1197+18G= (n.1197+18G=)
n.2076+18G=
2g.210592974G>TCA764169763CPS1c.1164+18G>T (n.1164+18G>T)
c.1182+18G>T (n.1182+18G>T)
c.1197+18G>T (n.1197+18G>T)
n.2076+18G>T
 dbSNP gnomAD v3 gnomAD v4
2g.210592975G>ACA2548731523CPS1c.1164+19G>A (n.1164+19G>A)
c.1182+19G>A (n.1182+19G>A)
c.1197+19G>A (n.1197+19G>A)
n.2076+19G>A
 gnomAD v4
2g.210592975G=CA1325073365CPS1c.1164+19G= (n.1164+19G=)
c.1182+19G= (n.1182+19G=)
c.1197+19G= (n.1197+19G=)
n.2076+19G=
2g.210592975G>TCA1325073364CPS1c.1164+19G>T (n.1164+19G>T)
c.1182+19G>T (n.1182+19G>T)
c.1197+19G>T (n.1197+19G>T)
n.2076+19G>T
 dbSNP
2g.210592976C>ACA2560511077CPS1c.1164+20C>A (n.1164+20C>A)
c.1182+20C>A (n.1182+20C>A)
c.1197+20C>A (n.1197+20C>A)
n.2076+20C>A
 ClinVar gnomAD v4
2g.210592976C>TCA2553446199CPS1c.1164+20C>T (n.1164+20C>T)
c.1182+20C>T (n.1182+20C>T)
c.1197+20C>T (n.1197+20C>T)
n.2076+20C>T
2g.210592977C>ACA2577231476CPS1c.1164+21C>A (n.1164+21C>A)
c.1182+21C>A (n.1182+21C>A)
c.1197+21C>A (n.1197+21C>A)
n.2076+21C>A
 gnomAD v4
2g.210592977C=CA1325073366CPS1c.1164+21C= (n.1164+21C=)
c.1182+21C= (n.1182+21C=)
c.1197+21C= (n.1197+21C=)
n.2076+21C=
2g.210592977C>TCA764169781CPS1c.1164+21C>T (n.1164+21C>T)
c.1182+21C>T (n.1182+21C>T)
c.1197+21C>T (n.1197+21C>T)
n.2076+21C>T
 dbSNP gnomAD v4
2g.210592978T>GCA2662934041CPS1c.1164+22T>G (n.1164+22T>G)
c.1182+22T>G (n.1182+22T>G)
c.1197+22T>G (n.1197+22T>G)
n.2076+22T>G
 gnomAD v4
2g.210592979A>GCA2533380336CPS1c.1164+23A>G (n.1164+23A>G)
c.1182+23A>G (n.1182+23A>G)
c.1197+23A>G (n.1197+23A>G)
n.2076+23A>G
 gnomAD v4
2g.210592979A>TCA2662934042CPS1c.1164+23A>T (n.1164+23A>T)
c.1182+23A>T (n.1182+23A>T)
c.1197+23A>T (n.1197+23A>T)
n.2076+23A>T
 gnomAD v4
2g.210592980T>CCA2086277CPS1c.1164+24T>C (n.1164+24T>C)
c.1182+24T>C (n.1182+24T>C)
c.1197+24T>C (n.1197+24T>C)
n.2076+24T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.210592980T=CA1325073367CPS1c.1164+24T= (n.1164+24T=)
c.1182+24T= (n.1182+24T=)
c.1197+24T= (n.1197+24T=)
n.2076+24T=
2g.210592981delCA2662934043CPS1c.1164+25del (n.1164+25del)
c.1182+25del (n.1182+25del)
c.1197+25del (n.1197+25del)
n.2076+25del
 gnomAD v4
2g.210592981T>CCA2086278CPS1c.1164+25T>C (n.1164+25T>C)
c.1182+25T>C (n.1182+25T>C)
c.1197+25T>C (n.1197+25T>C)
n.2076+25T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.210592981T>GCA2086279CPS1c.1164+25T>G (n.1164+25T>G)
c.1182+25T>G (n.1182+25T>G)
c.1197+25T>G (n.1197+25T>G)
n.2076+25T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.210592981T=CA1325073368CPS1c.1164+25T= (n.1164+25T=)
c.1182+25T= (n.1182+25T=)
c.1197+25T= (n.1197+25T=)
n.2076+25T=
2g.210592982A=CA1325073369CPS1c.1164+26A= (n.1164+26A=)
c.1182+26A= (n.1182+26A=)
c.1197+26A= (n.1197+26A=)
n.2076+26A=
2g.210592982A>GCA2662934049CPS1c.1164+26A>G (n.1164+26A>G)
c.1182+26A>G (n.1182+26A>G)
c.1197+26A>G (n.1197+26A>G)
n.2076+26A>G
 gnomAD v4
2g.210592982A>TCA2086280CPS1c.1164+26A>T (n.1164+26A>T)
c.1182+26A>T (n.1182+26A>T)
c.1197+26A>T (n.1197+26A>T)
n.2076+26A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.210592983T>CCA539125353CPS1c.1164+27T>C (n.1164+27T>C)
c.1182+27T>C (n.1182+27T>C)
c.1197+27T>C (n.1197+27T>C)
n.2076+27T>C
 dbSNP gnomAD v2 gnomAD v4
2g.210592983T>GCA1325073371CPS1c.1164+27T>G (n.1164+27T>G)
c.1182+27T>G (n.1182+27T>G)
c.1197+27T>G (n.1197+27T>G)
n.2076+27T>G
 dbSNP
2g.210592983T=CA1325073370CPS1c.1164+27T= (n.1164+27T=)
c.1182+27T= (n.1182+27T=)
c.1197+27T= (n.1197+27T=)
n.2076+27T=
2g.210592983_210592989delCA2662934050CPS1c.1164+27_1164+33del (n.1164+27_1164+33del)
c.1182+27_1182+33del (n.1182+27_1182+33del)
c.1197+27_1197+33del (n.1197+27_1197+33del)
n.2076+27_2076+33del
 gnomAD v4
2g.210592984G>ACA2557775072CPS1c.1164+28G>A (n.1164+28G>A)
c.1182+28G>A (n.1182+28G>A)
c.1197+28G>A (n.1197+28G>A)
n.2076+28G>A
 gnomAD v4
2g.210592984G>CCA647730547CPS1c.1164+28G>C (n.1164+28G>C)
c.1182+28G>C (n.1182+28G>C)
c.1197+28G>C (n.1197+28G>C)
n.2076+28G>C
 COSMIC
2g.210592984G>TCA2662934053CPS1c.1164+28G>T (n.1164+28G>T)
c.1182+28G>T (n.1182+28G>T)
c.1197+28G>T (n.1197+28G>T)
n.2076+28G>T
 gnomAD v4
2g.210592985T>ACA1041896263CPS1c.1164+29T>A (n.1164+29T>A)
c.1182+29T>A (n.1182+29T>A)
c.1197+29T>A (n.1197+29T>A)
n.2076+29T>A
 gnomAD v3 gnomAD v4
2g.210592986A>CCA647730549CPS1c.1164+30A>C (n.1164+30A>C)
c.1182+30A>C (n.1182+30A>C)
c.1197+30A>C (n.1197+30A>C)
n.2076+30A>C
 COSMIC

Number of alleles fetched