Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.4576679C>A | CA4969233 | SLC1A1,SPATA6L | c.1109C>A (p.Thr370Asn) c.396C>A c.*782-22291G>T (n.*782-22291G>T) c.1178C>A (p.Thr393Asn) c.1118C>A (p.Thr373Asn) c.1049C>A (p.Thr350Asn) c.968C>A (p.Thr323Asn) c.*1+27500G>T (n.*1+27500G>T) c.1070C>A (p.Thr357Asn) c.1001C>A (p.Thr334Asn) n.1478+23974G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.4576679C= | CA1829385573 | SLC1A1,SPATA6L | c.1109C= (p.Thr370=) c.396C= c.*782-22291G= (n.*782-22291G=) c.1178C= (p.Thr393=) c.1118C= (p.Thr373=) c.1049C= (p.Thr350=) c.968C= (p.Thr323=) c.*1+27500G= (n.*1+27500G=) c.1070C= (p.Thr357=) c.1001C= (p.Thr334=) n.1478+23974G= | |
9 | g.4576679C>G | CA372818547 | SLC1A1,SPATA6L | c.1109C>G (p.Thr370Ser) c.396C>G c.*782-22291G>C (n.*782-22291G>C) c.1178C>G (p.Thr393Ser) c.1118C>G (p.Thr373Ser) c.1049C>G (p.Thr350Ser) c.968C>G (p.Thr323Ser) c.*1+27500G>C (n.*1+27500G>C) c.1070C>G (p.Thr357Ser) c.1001C>G (p.Thr334Ser) n.1478+23974G>C | |
9 | g.4576679C>T | CA4969232 | SLC1A1,SPATA6L | c.1109C>T (p.Thr370Ile) c.396C>T c.*782-22291G>A (n.*782-22291G>A) c.1178C>T (p.Thr393Ile) c.1118C>T (p.Thr373Ile) c.1049C>T (p.Thr350Ile) c.968C>T (p.Thr323Ile) c.*1+27500G>A (n.*1+27500G>A) c.1070C>T (p.Thr357Ile) c.1001C>T (p.Thr334Ile) n.1478+23974G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.4576680T>A | CA463728605 | SLC1A1,SPATA6L | c.1110T>A (p.Thr370=) c.397T>A c.*782-22292A>T (n.*782-22292A>T) c.1179T>A (p.Thr393=) c.1119T>A (p.Thr373=) c.1050T>A (p.Thr350=) c.969T>A (p.Thr323=) c.*1+27499A>T (n.*1+27499A>T) c.1071T>A (p.Thr357=) c.1002T>A (p.Thr334=) n.1478+23973A>T | dbSNP |
9 | g.4576680T>C | CA4969234 | SLC1A1,SPATA6L | c.1110T>C (p.Thr370=) c.397T>C c.*782-22292A>G (n.*782-22292A>G) c.1179T>C (p.Thr393=) c.1119T>C (p.Thr373=) c.1050T>C (p.Thr350=) c.969T>C (p.Thr323=) c.*1+27499A>G (n.*1+27499A>G) c.1071T>C (p.Thr357=) c.1002T>C (p.Thr334=) n.1478+23973A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.4576680T>G | CA463728606 | SLC1A1,SPATA6L | c.1110T>G (p.Thr370=) c.397T>G c.*782-22292A>C (n.*782-22292A>C) c.1179T>G (p.Thr393=) c.1119T>G (p.Thr373=) c.1050T>G (p.Thr350=) c.969T>G (p.Thr323=) c.*1+27499A>C (n.*1+27499A>C) c.1071T>G (p.Thr357=) c.1002T>G (p.Thr334=) n.1478+23973A>C | dbSNP |
9 | g.4576680T= | CA1829385579 | SLC1A1,SPATA6L | c.1110T= (p.Thr370=) c.397T= c.*782-22292A= (n.*782-22292A=) c.1179T= (p.Thr393=) c.1119T= (p.Thr373=) c.1050T= (p.Thr350=) c.969T= (p.Thr323=) c.*1+27499A= (n.*1+27499A=) c.1071T= (p.Thr357=) c.1002T= (p.Thr334=) n.1478+23973A= | |
9 | g.4576680_4576681delinsTG | CA1829385580 | SLC1A1,SPATA6L | c.1110_1111delinsTG (p.Thr370=) c.397_398delinsTG c.*782-22293_*782-22292delinsCA (n.*782-22293_*782-22292delinsCA) c.1179_1180delinsTG (p.Thr393=) c.1119_1120delinsTG (p.Thr373=) c.1050_1051delinsTG (p.Thr350=) c.969_970delinsTG (p.Thr323=) c.*1+27498_*1+27499delinsCA (n.*1+27498_*1+27499delinsCA) c.1071_1072delinsTG (p.Thr357=) c.1002_1003delinsTG (p.Thr334=) n.1478+23972_1478+23973delinsCA | |
9 | g.4576681del | CA865010486 | SLC1A1,SPATA6L | c.1111del (p.Ala371ArgfsTer14) c.398del c.*782-22293del (n.*782-22293del) c.1180del (p.Ala394ArgfsTer14) c.1120del (p.Ala374ArgfsTer14) c.1051del (p.Ala351ArgfsTer14) c.970del (p.Ala324ArgfsTer14) c.*1+27498del (n.*1+27498del) c.1072del (p.Ala358ArgfsTer14) c.1003del (p.Ala335ArgfsTer14) n.1478+23972del | dbSNP gnomAD v4 |
9 | g.4576681G>A | CA4969235 | SLC1A1,SPATA6L | c.1111G>A (p.Ala371Thr) c.398G>A c.*782-22293C>T (n.*782-22293C>T) c.1180G>A (p.Ala394Thr) c.1120G>A (p.Ala374Thr) c.1051G>A (p.Ala351Thr) c.970G>A (p.Ala324Thr) c.*1+27498C>T (n.*1+27498C>T) c.1072G>A (p.Ala358Thr) c.1003G>A (p.Ala335Thr) n.1478+23972C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576681G>C | CA372818551 | SLC1A1,SPATA6L | c.1111G>C (p.Ala371Pro) c.398G>C c.*782-22293C>G (n.*782-22293C>G) c.1180G>C (p.Ala394Pro) c.1120G>C (p.Ala374Pro) c.1051G>C (p.Ala351Pro) c.970G>C (p.Ala324Pro) c.*1+27498C>G (n.*1+27498C>G) c.1072G>C (p.Ala358Pro) c.1003G>C (p.Ala335Pro) n.1478+23972C>G | |
9 | g.4576681G= | CA1829385591 | SLC1A1,SPATA6L | c.1111G= (p.Ala371=) c.398G= c.*782-22293C= (n.*782-22293C=) c.1180G= (p.Ala394=) c.1120G= (p.Ala374=) c.1051G= (p.Ala351=) c.970G= (p.Ala324=) c.*1+27498C= (n.*1+27498C=) c.1072G= (p.Ala358=) c.1003G= (p.Ala335=) n.1478+23972C= | |
9 | g.4576681G>T | CA372818554 | SLC1A1,SPATA6L | c.1111G>T (p.Ala371Ser) c.398G>T c.*782-22293C>A (n.*782-22293C>A) c.1180G>T (p.Ala394Ser) c.1120G>T (p.Ala374Ser) c.1051G>T (p.Ala351Ser) c.970G>T (p.Ala324Ser) c.*1+27498C>A (n.*1+27498C>A) c.1072G>T (p.Ala358Ser) c.1003G>T (p.Ala335Ser) n.1478+23972C>A | |
9 | g.4576682C>A | CA372818559 | SLC1A1,SPATA6L | c.1112C>A (p.Ala371Glu) c.399C>A c.*782-22294G>T (n.*782-22294G>T) c.1181C>A (p.Ala394Glu) c.1121C>A (p.Ala374Glu) c.1052C>A (p.Ala351Glu) c.971C>A (p.Ala324Glu) c.*1+27497G>T (n.*1+27497G>T) c.1073C>A (p.Ala358Glu) c.1004C>A (p.Ala335Glu) n.1478+23971G>T | |
9 | g.4576682C= | CA1829385595 | SLC1A1,SPATA6L | c.1112C= (p.Ala371=) c.399C= c.*782-22294G= (n.*782-22294G=) c.1181C= (p.Ala394=) c.1121C= (p.Ala374=) c.1052C= (p.Ala351=) c.971C= (p.Ala324=) c.*1+27497G= (n.*1+27497G=) c.1073C= (p.Ala358=) c.1004C= (p.Ala335=) n.1478+23971G= | |
9 | g.4576682C>G | CA372818558 | SLC1A1,SPATA6L | c.1112C>G (p.Ala371Gly) c.399C>G c.*782-22294G>C (n.*782-22294G>C) c.1181C>G (p.Ala394Gly) c.1121C>G (p.Ala374Gly) c.1052C>G (p.Ala351Gly) c.971C>G (p.Ala324Gly) c.*1+27497G>C (n.*1+27497G>C) c.1073C>G (p.Ala358Gly) c.1004C>G (p.Ala335Gly) n.1478+23971G>C | |
9 | g.4576682C>T | CA4969236 | SLC1A1,SPATA6L | c.1112C>T (p.Ala371Val) c.399C>T c.*782-22294G>A (n.*782-22294G>A) c.1181C>T (p.Ala394Val) c.1121C>T (p.Ala374Val) c.1052C>T (p.Ala351Val) c.971C>T (p.Ala324Val) c.*1+27497G>A (n.*1+27497G>A) c.1073C>T (p.Ala358Val) c.1004C>T (p.Ala335Val) n.1478+23971G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576683G>A | CA4969237 | SLC1A1,SPATA6L | c.1113G>A (p.Ala371=) c.400G>A c.*782-22295C>T (n.*782-22295C>T) c.1182G>A (p.Ala394=) c.1122G>A (p.Ala374=) c.1053G>A (p.Ala351=) c.972G>A (p.Ala324=) c.*1+27496C>T (n.*1+27496C>T) c.1074G>A (p.Ala358=) c.1005G>A (p.Ala335=) n.1478+23970C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576683G>C | CA463728607 | SLC1A1,SPATA6L | c.1113G>C (p.Ala371=) c.400G>C c.*782-22295C>G (n.*782-22295C>G) c.1182G>C (p.Ala394=) c.1122G>C (p.Ala374=) c.1053G>C (p.Ala351=) c.972G>C (p.Ala324=) c.*1+27496C>G (n.*1+27496C>G) c.1074G>C (p.Ala358=) c.1005G>C (p.Ala335=) n.1478+23970C>G | |
9 | g.4576683G= | CA1829385599 | SLC1A1,SPATA6L | c.1113G= (p.Ala371=) c.400G= c.*782-22295C= (n.*782-22295C=) c.1182G= (p.Ala394=) c.1122G= (p.Ala374=) c.1053G= (p.Ala351=) c.972G= (p.Ala324=) c.*1+27496C= (n.*1+27496C=) c.1074G= (p.Ala358=) c.1005G= (p.Ala335=) n.1478+23970C= | |
9 | g.4576683G>T | CA463728608 | SLC1A1,SPATA6L | c.1113G>T (p.Ala371=) c.400G>T c.*782-22295C>A (n.*782-22295C>A) c.1182G>T (p.Ala394=) c.1122G>T (p.Ala374=) c.1053G>T (p.Ala351=) c.972G>T (p.Ala324=) c.*1+27496C>A (n.*1+27496C>A) c.1074G>T (p.Ala358=) c.1005G>T (p.Ala335=) n.1478+23970C>A | |
9 | g.4576684C>A | CA372818562 | SLC1A1,SPATA6L | c.1114C>A (p.Leu372Ile) c.401C>A c.*782-22296G>T (n.*782-22296G>T) c.1183C>A (p.Leu395Ile) c.1123C>A (p.Leu375Ile) c.1054C>A (p.Leu352Ile) c.973C>A (p.Leu325Ile) c.*1+27495G>T (n.*1+27495G>T) c.1075C>A (p.Leu359Ile) c.1006C>A (p.Leu336Ile) n.1478+23969G>T | |
9 | g.4576684C>G | CA372818564 | SLC1A1,SPATA6L | c.1114C>G (p.Leu372Val) c.401C>G c.*782-22296G>C (n.*782-22296G>C) c.1183C>G (p.Leu395Val) c.1123C>G (p.Leu375Val) c.1054C>G (p.Leu352Val) c.973C>G (p.Leu325Val) c.*1+27495G>C (n.*1+27495G>C) c.1075C>G (p.Leu359Val) c.1006C>G (p.Leu336Val) n.1478+23969G>C | |
9 | g.4576684C>T | CA372818566 | SLC1A1,SPATA6L | c.1114C>T (p.Leu372Phe) c.401C>T c.*782-22296G>A (n.*782-22296G>A) c.1183C>T (p.Leu395Phe) c.1123C>T (p.Leu375Phe) c.1054C>T (p.Leu352Phe) c.973C>T (p.Leu325Phe) c.*1+27495G>A (n.*1+27495G>A) c.1075C>T (p.Leu359Phe) c.1006C>T (p.Leu336Phe) n.1478+23969G>A | |
9 | g.4576685T>A | CA372818569 | SLC1A1,SPATA6L | c.1115T>A (p.Leu372His) c.402T>A c.*782-22297A>T (n.*782-22297A>T) c.1184T>A (p.Leu395His) c.1124T>A (p.Leu375His) c.1055T>A (p.Leu352His) c.974T>A (p.Leu325His) c.*1+27494A>T (n.*1+27494A>T) c.1076T>A (p.Leu359His) c.1007T>A (p.Leu336His) n.1478+23968A>T | |
9 | g.4576685T>C | CA372818571 | SLC1A1,SPATA6L | c.1115T>C (p.Leu372Pro) c.402T>C c.*782-22297A>G (n.*782-22297A>G) c.1184T>C (p.Leu395Pro) c.1124T>C (p.Leu375Pro) c.1055T>C (p.Leu352Pro) c.974T>C (p.Leu325Pro) c.*1+27494A>G (n.*1+27494A>G) c.1076T>C (p.Leu359Pro) c.1007T>C (p.Leu336Pro) n.1478+23968A>G | |
9 | g.4576685T>G | CA372818573 | SLC1A1,SPATA6L | c.1115T>G (p.Leu372Arg) c.402T>G c.*782-22297A>C (n.*782-22297A>C) c.1184T>G (p.Leu395Arg) c.1124T>G (p.Leu375Arg) c.1055T>G (p.Leu352Arg) c.974T>G (p.Leu325Arg) c.*1+27494A>C (n.*1+27494A>C) c.1076T>G (p.Leu359Arg) c.1007T>G (p.Leu336Arg) n.1478+23968A>C | |
9 | g.4576686C>A | CA463728609 | SLC1A1,SPATA6L | c.1116C>A (p.Leu372=) c.403C>A c.*782-22298G>T (n.*782-22298G>T) c.1185C>A (p.Leu395=) c.1125C>A (p.Leu375=) c.1056C>A (p.Leu352=) c.975C>A (p.Leu325=) c.*1+27493G>T (n.*1+27493G>T) c.1077C>A (p.Leu359=) c.1008C>A (p.Leu336=) n.1478+23967G>T | dbSNP |
9 | g.4576686C= | CA1829385604 | SLC1A1,SPATA6L | c.1116C= (p.Leu372=) c.403C= c.*782-22298G= (n.*782-22298G=) c.1185C= (p.Leu395=) c.1125C= (p.Leu375=) c.1056C= (p.Leu352=) c.975C= (p.Leu325=) c.*1+27493G= (n.*1+27493G=) c.1077C= (p.Leu359=) c.1008C= (p.Leu336=) n.1478+23967G= | |
9 | g.4576686C>G | CA463728610 | SLC1A1,SPATA6L | c.1116C>G (p.Leu372=) c.403C>G c.*782-22298G>C (n.*782-22298G>C) c.1185C>G (p.Leu395=) c.1125C>G (p.Leu375=) c.1056C>G (p.Leu352=) c.975C>G (p.Leu325=) c.*1+27493G>C (n.*1+27493G>C) c.1077C>G (p.Leu359=) c.1008C>G (p.Leu336=) n.1478+23967G>C | |
9 | g.4576686C>T | CA463728611 | SLC1A1,SPATA6L | c.1116C>T (p.Leu372=) c.403C>T c.*782-22298G>A (n.*782-22298G>A) c.1185C>T (p.Leu395=) c.1125C>T (p.Leu375=) c.1056C>T (p.Leu352=) c.975C>T (p.Leu325=) c.*1+27493G>A (n.*1+27493G>A) c.1077C>T (p.Leu359=) c.1008C>T (p.Leu336=) n.1478+23967G>A | |
9 | g.4576687T>A | CA372818575 | SLC1A1,SPATA6L | c.1117T>A (p.Tyr373Asn) c.404T>A c.*782-22299A>T (n.*782-22299A>T) c.1186T>A (p.Tyr396Asn) c.1126T>A (p.Tyr376Asn) c.1057T>A (p.Tyr353Asn) c.976T>A (p.Tyr326Asn) c.*1+27492A>T (n.*1+27492A>T) c.1078T>A (p.Tyr360Asn) c.1009T>A (p.Tyr337Asn) n.1478+23966A>T | |
9 | g.4576687T>C | CA372818577 | SLC1A1,SPATA6L | c.1117T>C (p.Tyr373His) c.404T>C c.*782-22299A>G (n.*782-22299A>G) c.1186T>C (p.Tyr396His) c.1126T>C (p.Tyr376His) c.1057T>C (p.Tyr353His) c.976T>C (p.Tyr326His) c.*1+27492A>G (n.*1+27492A>G) c.1078T>C (p.Tyr360His) c.1009T>C (p.Tyr337His) n.1478+23966A>G | dbSNP |
9 | g.4576687T>G | CA372818578 | SLC1A1,SPATA6L | c.1117T>G (p.Tyr373Asp) c.404T>G c.*782-22299A>C (n.*782-22299A>C) c.1186T>G (p.Tyr396Asp) c.1126T>G (p.Tyr376Asp) c.1057T>G (p.Tyr353Asp) c.976T>G (p.Tyr326Asp) c.*1+27492A>C (n.*1+27492A>C) c.1078T>G (p.Tyr360Asp) c.1009T>G (p.Tyr337Asp) n.1478+23966A>C | |
9 | g.4576688A= | CA1829385611 | SLC1A1,SPATA6L | c.1118A= (p.Tyr373=) c.405A= c.*782-22300T= (n.*782-22300T=) c.1187A= (p.Tyr396=) c.1127A= (p.Tyr376=) c.1058A= (p.Tyr353=) c.977A= (p.Tyr326=) c.*1+27491T= (n.*1+27491T=) c.1079A= (p.Tyr360=) c.1010A= (p.Tyr337=) n.1478+23965T= | |
9 | g.4576688A>C | CA188359019 | SLC1A1,SPATA6L | c.1118A>C (p.Tyr373Ser) c.405A>C c.*782-22300T>G (n.*782-22300T>G) c.1187A>C (p.Tyr396Ser) c.1127A>C (p.Tyr376Ser) c.1058A>C (p.Tyr353Ser) c.977A>C (p.Tyr326Ser) c.*1+27491T>G (n.*1+27491T>G) c.1079A>C (p.Tyr360Ser) c.1010A>C (p.Tyr337Ser) n.1478+23965T>G | dbSNP |
9 | g.4576688A>G | CA4969238 | SLC1A1,SPATA6L | c.1118A>G (p.Tyr373Cys) c.405A>G c.*782-22300T>C (n.*782-22300T>C) c.1187A>G (p.Tyr396Cys) c.1127A>G (p.Tyr376Cys) c.1058A>G (p.Tyr353Cys) c.977A>G (p.Tyr326Cys) c.*1+27491T>C (n.*1+27491T>C) c.1079A>G (p.Tyr360Cys) c.1010A>G (p.Tyr337Cys) n.1478+23965T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.4576688A>T | CA372818583 | SLC1A1,SPATA6L | c.1118A>T (p.Tyr373Phe) c.405A>T c.*782-22300T>A (n.*782-22300T>A) c.1187A>T (p.Tyr396Phe) c.1127A>T (p.Tyr376Phe) c.1058A>T (p.Tyr353Phe) c.977A>T (p.Tyr326Phe) c.*1+27491T>A (n.*1+27491T>A) c.1079A>T (p.Tyr360Phe) c.1010A>T (p.Tyr337Phe) n.1478+23965T>A | |
9 | g.4576689T>A | CA372818589 | SLC1A1,SPATA6L | c.1119T>A (p.Tyr373Ter) c.406T>A c.*782-22301A>T (n.*782-22301A>T) c.1188T>A (p.Tyr396Ter) c.1128T>A (p.Tyr376Ter) c.1059T>A (p.Tyr353Ter) c.978T>A (p.Tyr326Ter) c.*1+27490A>T (n.*1+27490A>T) c.1080T>A (p.Tyr360Ter) c.1011T>A (p.Tyr337Ter) n.1478+23964A>T | |
9 | g.4576689T>C | CA463728612 | SLC1A1,SPATA6L | c.1119T>C (p.Tyr373=) c.406T>C c.*782-22301A>G (n.*782-22301A>G) c.1188T>C (p.Tyr396=) c.1128T>C (p.Tyr376=) c.1059T>C (p.Tyr353=) c.978T>C (p.Tyr326=) c.*1+27490A>G (n.*1+27490A>G) c.1080T>C (p.Tyr360=) c.1011T>C (p.Tyr337=) n.1478+23964A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.4576689T>G | CA372818586 | SLC1A1,SPATA6L | c.1119T>G (p.Tyr373Ter) c.406T>G c.*782-22301A>C (n.*782-22301A>C) c.1188T>G (p.Tyr396Ter) c.1128T>G (p.Tyr376Ter) c.1059T>G (p.Tyr353Ter) c.978T>G (p.Tyr326Ter) c.*1+27490A>C (n.*1+27490A>C) c.1080T>G (p.Tyr360Ter) c.1011T>G (p.Tyr337Ter) n.1478+23964A>C | gnomAD v4 |
9 | g.4576689T= | CA1829385615 | SLC1A1,SPATA6L | c.1119T= (p.Tyr373=) c.406T= c.*782-22301A= (n.*782-22301A=) c.1188T= (p.Tyr396=) c.1128T= (p.Tyr376=) c.1059T= (p.Tyr353=) c.978T= (p.Tyr326=) c.*1+27490A= (n.*1+27490A=) c.1080T= (p.Tyr360=) c.1011T= (p.Tyr337=) n.1478+23964A= | |
9 | g.4576691_4576707dup | CA4969239 | SLC1A1,SPATA6L | c.1121_1137dup (p.Phe380LysfsTer11) c.408_424dup c.*782-22317_*782-22301dup (n.*782-22317_*782-22301dup) c.1190_1206dup (p.Phe403LysfsTer11) c.1130_1146dup (p.Phe383LysfsTer11) c.1061_1077dup (p.Phe360LysfsTer11) c.980_996dup (p.Phe333LysfsTer11) c.*1+27474_*1+27490dup (n.*1+27474_*1+27490dup) c.1082_1098dup (p.Phe367LysfsTer11) c.1013_1029dup (p.Phe344LysfsTer11) n.1478+23948_1478+23964dup | dbSNP ExAC gnomAD v2 |
9 | g.4576690G>A | CA372818593 | SLC1A1,SPATA6L | c.1120G>A (p.Glu374Lys) c.407G>A c.*782-22302C>T (n.*782-22302C>T) c.1189G>A (p.Glu397Lys) c.1129G>A (p.Glu377Lys) c.1060G>A (p.Glu354Lys) c.979G>A (p.Glu327Lys) c.*1+27489C>T (n.*1+27489C>T) c.1081G>A (p.Glu361Lys) c.1012G>A (p.Glu338Lys) n.1478+23963C>T | |
9 | g.4576690G>C | CA372818594 | SLC1A1,SPATA6L | c.1120G>C (p.Glu374Gln) c.407G>C c.*782-22302C>G (n.*782-22302C>G) c.1189G>C (p.Glu397Gln) c.1129G>C (p.Glu377Gln) c.1060G>C (p.Glu354Gln) c.979G>C (p.Glu327Gln) c.*1+27489C>G (n.*1+27489C>G) c.1081G>C (p.Glu361Gln) c.1012G>C (p.Glu338Gln) n.1478+23963C>G | |
9 | g.4576690G>T | CA372818595 | SLC1A1,SPATA6L | c.1120G>T (p.Glu374Ter) c.407G>T c.*782-22302C>A (n.*782-22302C>A) c.1189G>T (p.Glu397Ter) c.1129G>T (p.Glu377Ter) c.1060G>T (p.Glu354Ter) c.979G>T (p.Glu327Ter) c.*1+27489C>A (n.*1+27489C>A) c.1081G>T (p.Glu361Ter) c.1012G>T (p.Glu338Ter) n.1478+23963C>A | |
9 | g.4576691A>C | CA372818597 | SLC1A1,SPATA6L | c.1121A>C (p.Glu374Ala) c.408A>C c.*782-22303T>G (n.*782-22303T>G) c.1190A>C (p.Glu397Ala) c.1130A>C (p.Glu377Ala) c.1061A>C (p.Glu354Ala) c.980A>C (p.Glu327Ala) c.*1+27488T>G (n.*1+27488T>G) c.1082A>C (p.Glu361Ala) c.1013A>C (p.Glu338Ala) n.1478+23962T>G | |
9 | g.4576691A>G | CA372818600 | SLC1A1,SPATA6L | c.1121A>G (p.Glu374Gly) c.408A>G c.*782-22303T>C (n.*782-22303T>C) c.1190A>G (p.Glu397Gly) c.1130A>G (p.Glu377Gly) c.1061A>G (p.Glu354Gly) c.980A>G (p.Glu327Gly) c.*1+27488T>C (n.*1+27488T>C) c.1082A>G (p.Glu361Gly) c.1013A>G (p.Glu338Gly) n.1478+23962T>C | |
9 | g.4576691A>T | CA372818602 | SLC1A1,SPATA6L | c.1121A>T (p.Glu374Val) c.408A>T c.*782-22303T>A (n.*782-22303T>A) c.1190A>T (p.Glu397Val) c.1130A>T (p.Glu377Val) c.1061A>T (p.Glu354Val) c.980A>T (p.Glu327Val) c.*1+27488T>A (n.*1+27488T>A) c.1082A>T (p.Glu361Val) c.1013A>T (p.Glu338Val) n.1478+23962T>A | |
9 | g.4576692A>C | CA372818604 | SLC1A1,SPATA6L | c.1122A>C (p.Glu374Asp) c.409A>C c.*782-22304T>G (n.*782-22304T>G) c.1191A>C (p.Glu397Asp) c.1131A>C (p.Glu377Asp) c.1062A>C (p.Glu354Asp) c.981A>C (p.Glu327Asp) c.*1+27487T>G (n.*1+27487T>G) c.1083A>C (p.Glu361Asp) c.1014A>C (p.Glu338Asp) n.1478+23961T>G | |
9 | g.4576692A>G | CA463728614 | SLC1A1,SPATA6L | c.1122A>G (p.Glu374=) c.409A>G c.*782-22304T>C (n.*782-22304T>C) c.1191A>G (p.Glu397=) c.1131A>G (p.Glu377=) c.1062A>G (p.Glu354=) c.981A>G (p.Glu327=) c.*1+27487T>C (n.*1+27487T>C) c.1083A>G (p.Glu361=) c.1014A>G (p.Glu338=) n.1478+23961T>C | |
9 | g.4576692A>T | CA372818606 | SLC1A1,SPATA6L | c.1122A>T (p.Glu374Asp) c.409A>T c.*782-22304T>A (n.*782-22304T>A) c.1191A>T (p.Glu397Asp) c.1131A>T (p.Glu377Asp) c.1062A>T (p.Glu354Asp) c.981A>T (p.Glu327Asp) c.*1+27487T>A (n.*1+27487T>A) c.1083A>T (p.Glu361Asp) c.1014A>T (p.Glu338Asp) n.1478+23961T>A | |
9 | g.4576695_4576703del | CA2689285198 | SLC1A1,SPATA6L | c.1125_1133del (p.Val376_Ala378del) c.412_420del c.*782-22312_*782-22304del (n.*782-22312_*782-22304del) c.1194_1202del (p.Val399_Ala401del) c.1134_1142del (p.Val379_Ala381del) c.1065_1073del (p.Val356_Ala358del) c.984_992del (p.Val329_Ala331del) c.*1+27479_*1+27487del (n.*1+27479_*1+27487del) c.1086_1094del (p.Val363_Ala365del) c.1017_1025del (p.Val340_Ala342del) n.1478+23953_1478+23961del | gnomAD v4 |
9 | g.4576693G>A | CA372818608 | SLC1A1,SPATA6L | c.1123G>A (p.Ala375Thr) c.410G>A c.*782-22305C>T (n.*782-22305C>T) c.1192G>A (p.Ala398Thr) c.1132G>A (p.Ala378Thr) c.1063G>A (p.Ala355Thr) c.982G>A (p.Ala328Thr) c.*1+27486C>T (n.*1+27486C>T) c.1084G>A (p.Ala362Thr) c.1015G>A (p.Ala339Thr) n.1478+23960C>T | |
9 | g.4576693G>C | CA372818610 | SLC1A1,SPATA6L | c.1123G>C (p.Ala375Pro) c.410G>C c.*782-22305C>G (n.*782-22305C>G) c.1192G>C (p.Ala398Pro) c.1132G>C (p.Ala378Pro) c.1063G>C (p.Ala355Pro) c.982G>C (p.Ala328Pro) c.*1+27486C>G (n.*1+27486C>G) c.1084G>C (p.Ala362Pro) c.1015G>C (p.Ala339Pro) n.1478+23960C>G | |
9 | g.4576693G>T | CA372818612 | SLC1A1,SPATA6L | c.1123G>T (p.Ala375Ser) c.410G>T c.*782-22305C>A (n.*782-22305C>A) c.1192G>T (p.Ala398Ser) c.1132G>T (p.Ala378Ser) c.1063G>T (p.Ala355Ser) c.982G>T (p.Ala328Ser) c.*1+27486C>A (n.*1+27486C>A) c.1084G>T (p.Ala362Ser) c.1015G>T (p.Ala339Ser) n.1478+23960C>A | |
9 | g.4576694C>A | CA372818625 | SLC1A1,SPATA6L | c.1124C>A (p.Ala375Glu) c.411C>A c.*782-22306G>T (n.*782-22306G>T) c.1193C>A (p.Ala398Glu) c.1133C>A (p.Ala378Glu) c.1064C>A (p.Ala355Glu) c.983C>A (p.Ala328Glu) c.*1+27485G>T (n.*1+27485G>T) c.1085C>A (p.Ala362Glu) c.1016C>A (p.Ala339Glu) n.1478+23959G>T | |
9 | g.4576694C>G | CA372818624 | SLC1A1,SPATA6L | c.1124C>G (p.Ala375Gly) c.411C>G c.*782-22306G>C (n.*782-22306G>C) c.1193C>G (p.Ala398Gly) c.1133C>G (p.Ala378Gly) c.1064C>G (p.Ala355Gly) c.983C>G (p.Ala328Gly) c.*1+27485G>C (n.*1+27485G>C) c.1085C>G (p.Ala362Gly) c.1016C>G (p.Ala339Gly) n.1478+23959G>C | |
9 | g.4576694C>T | CA372818616 | SLC1A1,SPATA6L | c.1124C>T (p.Ala375Val) c.411C>T c.*782-22306G>A (n.*782-22306G>A) c.1193C>T (p.Ala398Val) c.1133C>T (p.Ala378Val) c.1064C>T (p.Ala355Val) c.983C>T (p.Ala328Val) c.*1+27485G>A (n.*1+27485G>A) c.1085C>T (p.Ala362Val) c.1016C>T (p.Ala339Val) n.1478+23959G>A | |
9 | g.4576695A= | CA1829385618 | SLC1A1,SPATA6L | c.1125A= (p.Ala375=) c.412A= c.*782-22307T= (n.*782-22307T=) c.1194A= (p.Ala398=) c.1134A= (p.Ala378=) c.1065A= (p.Ala355=) c.984A= (p.Ala328=) c.*1+27484T= (n.*1+27484T=) c.1086A= (p.Ala362=) c.1017A= (p.Ala339=) n.1478+23958T= | |
9 | g.4576695A>C | CA463728615 | SLC1A1,SPATA6L | c.1125A>C (p.Ala375=) c.412A>C c.*782-22307T>G (n.*782-22307T>G) c.1194A>C (p.Ala398=) c.1134A>C (p.Ala378=) c.1065A>C (p.Ala355=) c.984A>C (p.Ala328=) c.*1+27484T>G (n.*1+27484T>G) c.1086A>C (p.Ala362=) c.1017A>C (p.Ala339=) n.1478+23958T>G | |
9 | g.4576695A>G | CA188359032 | SLC1A1,SPATA6L | c.1125A>G (p.Ala375=) c.412A>G c.*782-22307T>C (n.*782-22307T>C) c.1194A>G (p.Ala398=) c.1134A>G (p.Ala378=) c.1065A>G (p.Ala355=) c.984A>G (p.Ala328=) c.*1+27484T>C (n.*1+27484T>C) c.1086A>G (p.Ala362=) c.1017A>G (p.Ala339=) n.1478+23958T>C | dbSNP |
9 | g.4576695A>T | CA463728616 | SLC1A1,SPATA6L | c.1125A>T (p.Ala375=) c.412A>T c.*782-22307T>A (n.*782-22307T>A) c.1194A>T (p.Ala398=) c.1134A>T (p.Ala378=) c.1065A>T (p.Ala355=) c.984A>T (p.Ala328=) c.*1+27484T>A (n.*1+27484T>A) c.1086A>T (p.Ala362=) c.1017A>T (p.Ala339=) n.1478+23958T>A | |
9 | g.4576696G>A | CA372818631 | SLC1A1,SPATA6L | c.1126G>A (p.Val376Met) c.413G>A c.*782-22308C>T (n.*782-22308C>T) c.1195G>A (p.Val399Met) c.1135G>A (p.Val379Met) c.1066G>A (p.Val356Met) c.985G>A (p.Val329Met) c.*1+27483C>T (n.*1+27483C>T) c.1087G>A (p.Val363Met) c.1018G>A (p.Val340Met) n.1478+23957C>T | |
9 | g.4576696G>C | CA372818632 | SLC1A1,SPATA6L | c.1126G>C (p.Val376Leu) c.413G>C c.*782-22308C>G (n.*782-22308C>G) c.1195G>C (p.Val399Leu) c.1135G>C (p.Val379Leu) c.1066G>C (p.Val356Leu) c.985G>C (p.Val329Leu) c.*1+27483C>G (n.*1+27483C>G) c.1087G>C (p.Val363Leu) c.1018G>C (p.Val340Leu) n.1478+23957C>G | |
9 | g.4576696G>T | CA372818636 | SLC1A1,SPATA6L | c.1126G>T (p.Val376Leu) c.413G>T c.*782-22308C>A (n.*782-22308C>A) c.1195G>T (p.Val399Leu) c.1135G>T (p.Val379Leu) c.1066G>T (p.Val356Leu) c.985G>T (p.Val329Leu) c.*1+27483C>A (n.*1+27483C>A) c.1087G>T (p.Val363Leu) c.1018G>T (p.Val340Leu) n.1478+23957C>A | gnomAD v4 |
9 | g.4576697T>A | CA372818649 | SLC1A1,SPATA6L | c.1127T>A (p.Val376Glu) c.414T>A c.*782-22309A>T (n.*782-22309A>T) c.1196T>A (p.Val399Glu) c.1136T>A (p.Val379Glu) c.1067T>A (p.Val356Glu) c.986T>A (p.Val329Glu) c.*1+27482A>T (n.*1+27482A>T) c.1088T>A (p.Val363Glu) c.1019T>A (p.Val340Glu) n.1478+23956A>T | |
9 | g.4576697T>C | CA372818652 | SLC1A1,SPATA6L | c.1127T>C (p.Val376Ala) c.414T>C c.*782-22309A>G (n.*782-22309A>G) c.1196T>C (p.Val399Ala) c.1136T>C (p.Val379Ala) c.1067T>C (p.Val356Ala) c.986T>C (p.Val329Ala) c.*1+27482A>G (n.*1+27482A>G) c.1088T>C (p.Val363Ala) c.1019T>C (p.Val340Ala) n.1478+23956A>G | |
9 | g.4576697T>G | CA372818654 | SLC1A1,SPATA6L | c.1127T>G (p.Val376Gly) c.414T>G c.*782-22309A>C (n.*782-22309A>C) c.1196T>G (p.Val399Gly) c.1136T>G (p.Val379Gly) c.1067T>G (p.Val356Gly) c.986T>G (p.Val329Gly) c.*1+27482A>C (n.*1+27482A>C) c.1088T>G (p.Val363Gly) c.1019T>G (p.Val340Gly) n.1478+23956A>C | |
9 | g.4576698G>A | CA188359053 | SLC1A1,SPATA6L | c.1128G>A (p.Val376=) c.415G>A c.*782-22310C>T (n.*782-22310C>T) c.1197G>A (p.Val399=) c.1137G>A (p.Val379=) c.1068G>A (p.Val356=) c.987G>A (p.Val329=) c.*1+27481C>T (n.*1+27481C>T) c.1089G>A (p.Val363=) c.1020G>A (p.Val340=) n.1478+23955C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576698G>C | CA463728617 | SLC1A1,SPATA6L | c.1128G>C (p.Val376=) c.415G>C c.*782-22310C>G (n.*782-22310C>G) c.1197G>C (p.Val399=) c.1137G>C (p.Val379=) c.1068G>C (p.Val356=) c.987G>C (p.Val329=) c.*1+27481C>G (n.*1+27481C>G) c.1089G>C (p.Val363=) c.1020G>C (p.Val340=) n.1478+23955C>G | |
9 | g.4576698G= | CA1829385620 | SLC1A1,SPATA6L | c.1128G= (p.Val376=) c.415G= c.*782-22310C= (n.*782-22310C=) c.1197G= (p.Val399=) c.1137G= (p.Val379=) c.1068G= (p.Val356=) c.987G= (p.Val329=) c.*1+27481C= (n.*1+27481C=) c.1089G= (p.Val363=) c.1020G= (p.Val340=) n.1478+23955C= | |
9 | g.4576698G>T | CA463728618 | SLC1A1,SPATA6L | c.1128G>T (p.Val376=) c.415G>T c.*782-22310C>A (n.*782-22310C>A) c.1197G>T (p.Val399=) c.1137G>T (p.Val379=) c.1068G>T (p.Val356=) c.987G>T (p.Val329=) c.*1+27481C>A (n.*1+27481C>A) c.1089G>T (p.Val363=) c.1020G>T (p.Val340=) n.1478+23955C>A | |
9 | g.4576698_4576711delinsGGCAGCGGTGTTTA | CA1829385622 | SLC1A1,SPATA6L | c.1128_1141delinsGGCAGCGGTGTTTA (p.Val376=) c.415_428delinsGGCAGCGGTGTTTA c.*782-22323_*782-22310delinsTAAACACCGCTGCC (n.*782-22323_*782-22310delinsTAAACACCGCTGCC) c.1197_1210delinsGGCAGCGGTGTTTA (p.Val399=) c.1137_1150delinsGGCAGCGGTGTTTA (p.Val379=) c.1068_1081delinsGGCAGCGGTGTTTA (p.Val356=) c.987_1000delinsGGCAGCGGTGTTTA (p.Val329=) c.*1+27468_*1+27481delinsTAAACACCGCTGCC (n.*1+27468_*1+27481delinsTAAACACCGCTGCC) c.1089_1102delinsGGCAGCGGTGTTTA (p.Val363=) c.1020_1033delinsGGCAGCGGTGTTTA (p.Val340=) n.1478+23942_1478+23955delinsTAAACACCGCTGCC | |
9 | g.4576699G>A | CA372818658 | SLC1A1,SPATA6L | c.1129G>A (p.Ala377Thr) c.416G>A c.*782-22311C>T (n.*782-22311C>T) c.1198G>A (p.Ala400Thr) c.1138G>A (p.Ala380Thr) c.1069G>A (p.Ala357Thr) c.988G>A (p.Ala330Thr) c.*1+27480C>T (n.*1+27480C>T) c.1090G>A (p.Ala364Thr) c.1021G>A (p.Ala341Thr) n.1478+23954C>T | |
9 | g.4576699G>C | CA372818662 | SLC1A1,SPATA6L | c.1129G>C (p.Ala377Pro) c.416G>C c.*782-22311C>G (n.*782-22311C>G) c.1198G>C (p.Ala400Pro) c.1138G>C (p.Ala380Pro) c.1069G>C (p.Ala357Pro) c.988G>C (p.Ala330Pro) c.*1+27480C>G (n.*1+27480C>G) c.1090G>C (p.Ala364Pro) c.1021G>C (p.Ala341Pro) n.1478+23954C>G | |
9 | g.4576699G>T | CA372818664 | SLC1A1,SPATA6L | c.1129G>T (p.Ala377Ser) c.416G>T c.*782-22311C>A (n.*782-22311C>A) c.1198G>T (p.Ala400Ser) c.1138G>T (p.Ala380Ser) c.1069G>T (p.Ala357Ser) c.988G>T (p.Ala330Ser) c.*1+27480C>A (n.*1+27480C>A) c.1090G>T (p.Ala364Ser) c.1021G>T (p.Ala341Ser) n.1478+23954C>A | |
9 | g.4576699_4576711del | CA1829385624 | SLC1A1,SPATA6L | c.1129_1141del (p.Ala377LeufsTer4) c.416_428del c.*782-22323_*782-22311del (n.*782-22323_*782-22311del) c.1198_1210del (p.Ala400LeufsTer4) c.1138_1150del (p.Ala380LeufsTer4) c.1069_1081del (p.Ala357LeufsTer4) c.988_1000del (p.Ala330LeufsTer4) c.*1+27468_*1+27480del (n.*1+27468_*1+27480del) c.1090_1102del (p.Ala364LeufsTer4) c.1021_1033del (p.Ala341LeufsTer4) n.1478+23942_1478+23954del | dbSNP |
9 | g.4576700C>A | CA372818665 | SLC1A1,SPATA6L | c.1130C>A (p.Ala377Glu) c.417C>A c.*782-22312G>T (n.*782-22312G>T) c.1199C>A (p.Ala400Glu) c.1139C>A (p.Ala380Glu) c.1070C>A (p.Ala357Glu) c.989C>A (p.Ala330Glu) c.*1+27479G>T (n.*1+27479G>T) c.1091C>A (p.Ala364Glu) c.1022C>A (p.Ala341Glu) n.1478+23953G>T | |
9 | g.4576700C>G | CA372818666 | SLC1A1,SPATA6L | c.1130C>G (p.Ala377Gly) c.417C>G c.*782-22312G>C (n.*782-22312G>C) c.1199C>G (p.Ala400Gly) c.1139C>G (p.Ala380Gly) c.1070C>G (p.Ala357Gly) c.989C>G (p.Ala330Gly) c.*1+27479G>C (n.*1+27479G>C) c.1091C>G (p.Ala364Gly) c.1022C>G (p.Ala341Gly) n.1478+23953G>C | |
9 | g.4576700C>T | CA372818667 | SLC1A1,SPATA6L | c.1130C>T (p.Ala377Val) c.417C>T c.*782-22312G>A (n.*782-22312G>A) c.1199C>T (p.Ala400Val) c.1139C>T (p.Ala380Val) c.1070C>T (p.Ala357Val) c.989C>T (p.Ala330Val) c.*1+27479G>A (n.*1+27479G>A) c.1091C>T (p.Ala364Val) c.1022C>T (p.Ala341Val) n.1478+23953G>A | gnomAD v4 |
9 | g.4576701A= | CA1829385626 | SLC1A1,SPATA6L | c.1131A= (p.Ala377=) c.418A= c.*782-22313T= (n.*782-22313T=) c.1200A= (p.Ala400=) c.1140A= (p.Ala380=) c.1071A= (p.Ala357=) c.990A= (p.Ala330=) c.*1+27478T= (n.*1+27478T=) c.1092A= (p.Ala364=) c.1023A= (p.Ala341=) n.1478+23952T= | |
9 | g.4576701A>C | CA463728619 | SLC1A1,SPATA6L | c.1131A>C (p.Ala377=) c.418A>C c.*782-22313T>G (n.*782-22313T>G) c.1200A>C (p.Ala400=) c.1140A>C (p.Ala380=) c.1071A>C (p.Ala357=) c.990A>C (p.Ala330=) c.*1+27478T>G (n.*1+27478T>G) c.1092A>C (p.Ala364=) c.1023A>C (p.Ala341=) n.1478+23952T>G | |
9 | g.4576701A>G | CA463728620 | SLC1A1,SPATA6L | c.1131A>G (p.Ala377=) c.418A>G c.*782-22313T>C (n.*782-22313T>C) c.1200A>G (p.Ala400=) c.1140A>G (p.Ala380=) c.1071A>G (p.Ala357=) c.990A>G (p.Ala330=) c.*1+27478T>C (n.*1+27478T>C) c.1092A>G (p.Ala364=) c.1023A>G (p.Ala341=) n.1478+23952T>C | |
9 | g.4576701A>T | CA463728621 | SLC1A1,SPATA6L | c.1131A>T (p.Ala377=) c.418A>T c.*782-22313T>A (n.*782-22313T>A) c.1200A>T (p.Ala400=) c.1140A>T (p.Ala380=) c.1071A>T (p.Ala357=) c.990A>T (p.Ala330=) c.*1+27478T>A (n.*1+27478T>A) c.1092A>T (p.Ala364=) c.1023A>T (p.Ala341=) n.1478+23952T>A | |
9 | g.4576702G>A | CA372818671 | SLC1A1,SPATA6L | c.1132G>A (p.Ala378Thr) c.419G>A c.*782-22314C>T (n.*782-22314C>T) c.1201G>A (p.Ala401Thr) c.1141G>A (p.Ala381Thr) c.1072G>A (p.Ala358Thr) c.991G>A (p.Ala331Thr) c.*1+27477C>T (n.*1+27477C>T) c.1093G>A (p.Ala365Thr) c.1024G>A (p.Ala342Thr) n.1478+23951C>T | |
9 | g.4576702G>C | CA372818670 | SLC1A1,SPATA6L | c.1132G>C (p.Ala378Pro) c.419G>C c.*782-22314C>G (n.*782-22314C>G) c.1201G>C (p.Ala401Pro) c.1141G>C (p.Ala381Pro) c.1072G>C (p.Ala358Pro) c.991G>C (p.Ala331Pro) c.*1+27477C>G (n.*1+27477C>G) c.1093G>C (p.Ala365Pro) c.1024G>C (p.Ala342Pro) n.1478+23951C>G | |
9 | g.4576702G>T | CA372818668 | SLC1A1,SPATA6L | c.1132G>T (p.Ala378Ser) c.419G>T c.*782-22314C>A (n.*782-22314C>A) c.1201G>T (p.Ala401Ser) c.1141G>T (p.Ala381Ser) c.1072G>T (p.Ala358Ser) c.991G>T (p.Ala331Ser) c.*1+27477C>A (n.*1+27477C>A) c.1093G>T (p.Ala365Ser) c.1024G>T (p.Ala342Ser) n.1478+23951C>A | |
9 | g.4576702dup | CA586169022 | SLC1A1,SPATA6L | c.1132dup (p.Ala378GlyfsTer9) c.419dup c.*782-22314dup (n.*782-22314dup) c.1201dup (p.Ala401GlyfsTer9) c.1141dup (p.Ala381GlyfsTer9) c.1072dup (p.Ala358GlyfsTer9) c.991dup (p.Ala331GlyfsTer9) c.*1+27477dup (n.*1+27477dup) c.1093dup (p.Ala365GlyfsTer9) c.1024dup (p.Ala342GlyfsTer9) n.1478+23951dup | dbSNP gnomAD v2 |
9 | g.4576703C>A | CA372818674 | SLC1A1,SPATA6L | c.1133C>A (p.Ala378Glu) c.420C>A c.*782-22315G>T (n.*782-22315G>T) c.1202C>A (p.Ala401Glu) c.1142C>A (p.Ala381Glu) c.1073C>A (p.Ala358Glu) c.992C>A (p.Ala331Glu) c.*1+27476G>T (n.*1+27476G>T) c.1094C>A (p.Ala365Glu) c.1025C>A (p.Ala342Glu) n.1478+23950G>T | gnomAD v4 |
9 | g.4576703C= | CA1829385631 | SLC1A1,SPATA6L | c.1133C= (p.Ala378=) c.420C= c.*782-22315G= (n.*782-22315G=) c.1202C= (p.Ala401=) c.1142C= (p.Ala381=) c.1073C= (p.Ala358=) c.992C= (p.Ala331=) c.*1+27476G= (n.*1+27476G=) c.1094C= (p.Ala365=) c.1025C= (p.Ala342=) n.1478+23950G= | |
9 | g.4576703C>G | CA4969240 | SLC1A1,SPATA6L | c.1133C>G (p.Ala378Gly) c.420C>G c.*782-22315G>C (n.*782-22315G>C) c.1202C>G (p.Ala401Gly) c.1142C>G (p.Ala381Gly) c.1073C>G (p.Ala358Gly) c.992C>G (p.Ala331Gly) c.*1+27476G>C (n.*1+27476G>C) c.1094C>G (p.Ala365Gly) c.1025C>G (p.Ala342Gly) n.1478+23950G>C | dbSNP ExAC gnomAD v2 |
9 | g.4576703C>T | CA4969241 | SLC1A1,SPATA6L | c.1133C>T (p.Ala378Val) c.420C>T c.*782-22315G>A (n.*782-22315G>A) c.1202C>T (p.Ala401Val) c.1142C>T (p.Ala381Val) c.1073C>T (p.Ala358Val) c.992C>T (p.Ala331Val) c.*1+27476G>A (n.*1+27476G>A) c.1094C>T (p.Ala365Val) c.1025C>T (p.Ala342Val) n.1478+23950G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576704G>A | CA4969242 | SLC1A1,SPATA6L | c.1134G>A (p.Ala378=) c.421G>A c.*782-22316C>T (n.*782-22316C>T) c.1203G>A (p.Ala401=) c.1143G>A (p.Ala381=) c.1074G>A (p.Ala358=) c.993G>A (p.Ala331=) c.*1+27475C>T (n.*1+27475C>T) c.1095G>A (p.Ala365=) c.1026G>A (p.Ala342=) n.1478+23949C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576704G>C | CA463728623 | SLC1A1,SPATA6L | c.1134G>C (p.Ala378=) c.421G>C c.*782-22316C>G (n.*782-22316C>G) c.1203G>C (p.Ala401=) c.1143G>C (p.Ala381=) c.1074G>C (p.Ala358=) c.993G>C (p.Ala331=) c.*1+27475C>G (n.*1+27475C>G) c.1095G>C (p.Ala365=) c.1026G>C (p.Ala342=) n.1478+23949C>G | |
9 | g.4576704G= | CA1829385634 | SLC1A1,SPATA6L | c.1134G= (p.Ala378=) c.421G= c.*782-22316C= (n.*782-22316C=) c.1203G= (p.Ala401=) c.1143G= (p.Ala381=) c.1074G= (p.Ala358=) c.993G= (p.Ala331=) c.*1+27475C= (n.*1+27475C=) c.1095G= (p.Ala365=) c.1026G= (p.Ala342=) n.1478+23949C= | |
9 | g.4576704G>T | CA463728622 | SLC1A1,SPATA6L | c.1134G>T (p.Ala378=) c.421G>T c.*782-22316C>A (n.*782-22316C>A) c.1203G>T (p.Ala401=) c.1143G>T (p.Ala381=) c.1074G>T (p.Ala358=) c.993G>T (p.Ala331=) c.*1+27475C>A (n.*1+27475C>A) c.1095G>T (p.Ala365=) c.1026G>T (p.Ala342=) n.1478+23949C>A | gnomAD v4 |
9 | g.4576705G>A | CA372818695 | SLC1A1,SPATA6L | c.1135G>A (p.Val379Met) c.422G>A c.*782-22317C>T (n.*782-22317C>T) c.1204G>A (p.Val402Met) c.1144G>A (p.Val382Met) c.1075G>A (p.Val359Met) c.994G>A (p.Val332Met) c.*1+27474C>T (n.*1+27474C>T) c.1096G>A (p.Val366Met) c.1027G>A (p.Val343Met) n.1478+23948C>T | |
9 | g.4576705G>C | CA372818686 | SLC1A1,SPATA6L | c.1135G>C (p.Val379Leu) c.422G>C c.*782-22317C>G (n.*782-22317C>G) c.1204G>C (p.Val402Leu) c.1144G>C (p.Val382Leu) c.1075G>C (p.Val359Leu) c.994G>C (p.Val332Leu) c.*1+27474C>G (n.*1+27474C>G) c.1096G>C (p.Val366Leu) c.1027G>C (p.Val343Leu) n.1478+23948C>G | |
9 | g.4576705G>T | CA372818689 | SLC1A1,SPATA6L | c.1135G>T (p.Val379Leu) c.422G>T c.*782-22317C>A (n.*782-22317C>A) c.1204G>T (p.Val402Leu) c.1144G>T (p.Val382Leu) c.1075G>T (p.Val359Leu) c.994G>T (p.Val332Leu) c.*1+27474C>A (n.*1+27474C>A) c.1096G>T (p.Val366Leu) c.1027G>T (p.Val343Leu) n.1478+23948C>A | |
9 | g.4576706T>A | CA372818696 | SLC1A1,SPATA6L | c.1136T>A (p.Val379Glu) c.423T>A c.*782-22318A>T (n.*782-22318A>T) c.1205T>A (p.Val402Glu) c.1145T>A (p.Val382Glu) c.1076T>A (p.Val359Glu) c.995T>A (p.Val332Glu) c.*1+27473A>T (n.*1+27473A>T) c.1097T>A (p.Val366Glu) c.1028T>A (p.Val343Glu) n.1478+23947A>T | |
9 | g.4576706T>C | CA372818700 | SLC1A1,SPATA6L | c.1136T>C (p.Val379Ala) c.423T>C c.*782-22318A>G (n.*782-22318A>G) c.1205T>C (p.Val402Ala) c.1145T>C (p.Val382Ala) c.1076T>C (p.Val359Ala) c.995T>C (p.Val332Ala) c.*1+27473A>G (n.*1+27473A>G) c.1097T>C (p.Val366Ala) c.1028T>C (p.Val343Ala) n.1478+23947A>G | ClinVar gnomAD v4 |
9 | g.4576706T>G | CA4969243 | SLC1A1,SPATA6L | c.1136T>G (p.Val379Gly) c.423T>G c.*782-22318A>C (n.*782-22318A>C) c.1205T>G (p.Val402Gly) c.1145T>G (p.Val382Gly) c.1076T>G (p.Val359Gly) c.995T>G (p.Val332Gly) c.*1+27473A>C (n.*1+27473A>C) c.1097T>G (p.Val366Gly) c.1028T>G (p.Val343Gly) n.1478+23947A>C | dbSNP ExAC gnomAD v2 |
9 | g.4576706T= | CA1829385636 | SLC1A1,SPATA6L | c.1136T= (p.Val379=) c.423T= c.*782-22318A= (n.*782-22318A=) c.1205T= (p.Val402=) c.1145T= (p.Val382=) c.1076T= (p.Val359=) c.995T= (p.Val332=) c.*1+27473A= (n.*1+27473A=) c.1097T= (p.Val366=) c.1028T= (p.Val343=) n.1478+23947A= | |
9 | g.4576707G>A | CA463728626 | SLC1A1,SPATA6L | c.1137G>A (p.Val379=) c.424G>A c.*782-22319C>T (n.*782-22319C>T) c.1206G>A (p.Val402=) c.1146G>A (p.Val382=) c.1077G>A (p.Val359=) c.996G>A (p.Val332=) c.*1+27472C>T (n.*1+27472C>T) c.1098G>A (p.Val366=) c.1029G>A (p.Val343=) n.1478+23946C>T | gnomAD v4 |
9 | g.4576707G>C | CA463728624 | SLC1A1,SPATA6L | c.1137G>C (p.Val379=) c.424G>C c.*782-22319C>G (n.*782-22319C>G) c.1206G>C (p.Val402=) c.1146G>C (p.Val382=) c.1077G>C (p.Val359=) c.996G>C (p.Val332=) c.*1+27472C>G (n.*1+27472C>G) c.1098G>C (p.Val366=) c.1029G>C (p.Val343=) n.1478+23946C>G | |
9 | g.4576707G>T | CA463728625 | SLC1A1,SPATA6L | c.1137G>T (p.Val379=) c.424G>T c.*782-22319C>A (n.*782-22319C>A) c.1206G>T (p.Val402=) c.1146G>T (p.Val382=) c.1077G>T (p.Val359=) c.996G>T (p.Val332=) c.*1+27472C>A (n.*1+27472C>A) c.1098G>T (p.Val366=) c.1029G>T (p.Val343=) n.1478+23946C>A | gnomAD v4 |
9 | g.4576708T>A | CA372818711 | SLC1A1,SPATA6L | c.1138T>A (p.Phe380Ile) c.425T>A c.*782-22320A>T (n.*782-22320A>T) c.1207T>A (p.Phe403Ile) c.1147T>A (p.Phe383Ile) c.1078T>A (p.Phe360Ile) c.997T>A (p.Phe333Ile) c.*1+27471A>T (n.*1+27471A>T) c.1099T>A (p.Phe367Ile) c.1030T>A (p.Phe344Ile) n.1478+23945A>T | |
9 | g.4576708T>C | CA372818709 | SLC1A1,SPATA6L | c.1138T>C (p.Phe380Leu) c.425T>C c.*782-22320A>G (n.*782-22320A>G) c.1207T>C (p.Phe403Leu) c.1147T>C (p.Phe383Leu) c.1078T>C (p.Phe360Leu) c.997T>C (p.Phe333Leu) c.*1+27471A>G (n.*1+27471A>G) c.1099T>C (p.Phe367Leu) c.1030T>C (p.Phe344Leu) n.1478+23945A>G | |
9 | g.4576708T>G | CA372818708 | SLC1A1,SPATA6L | c.1138T>G (p.Phe380Val) c.425T>G c.*782-22320A>C (n.*782-22320A>C) c.1207T>G (p.Phe403Val) c.1147T>G (p.Phe383Val) c.1078T>G (p.Phe360Val) c.997T>G (p.Phe333Val) c.*1+27471A>C (n.*1+27471A>C) c.1099T>G (p.Phe367Val) c.1030T>G (p.Phe344Val) n.1478+23945A>C | dbSNP |
9 | g.4576708T= | CA1829385638 | SLC1A1,SPATA6L | c.1138T= (p.Phe380=) c.425T= c.*782-22320A= (n.*782-22320A=) c.1207T= (p.Phe403=) c.1147T= (p.Phe383=) c.1078T= (p.Phe360=) c.997T= (p.Phe333=) c.*1+27471A= (n.*1+27471A=) c.1099T= (p.Phe367=) c.1030T= (p.Phe344=) n.1478+23945A= | |
9 | g.4576710_4576713del | CA2689285199 | SLC1A1,SPATA6L | c.1140_1143del (p.Phe380LeufsTer4) c.427_430del c.*782-22323_*782-22320del (n.*782-22323_*782-22320del) c.1209_1212del (p.Phe403LeufsTer4) c.1149_1152del (p.Phe383LeufsTer4) c.1080_1083del (p.Phe360LeufsTer4) c.999_1002del (p.Phe333LeufsTer4) c.*1+27468_*1+27471del (n.*1+27468_*1+27471del) c.1101_1104del (p.Phe367LeufsTer4) c.1032_1035del (p.Phe344LeufsTer4) n.1478+23942_1478+23945del | gnomAD v4 |
9 | g.4576709T>A | CA372818713 | SLC1A1,SPATA6L | c.1139T>A (p.Phe380Tyr) c.426T>A c.*782-22321A>T (n.*782-22321A>T) c.1208T>A (p.Phe403Tyr) c.1148T>A (p.Phe383Tyr) c.1079T>A (p.Phe360Tyr) c.998T>A (p.Phe333Tyr) c.*1+27470A>T (n.*1+27470A>T) c.1100T>A (p.Phe367Tyr) c.1031T>A (p.Phe344Tyr) n.1478+23944A>T | |
9 | g.4576709T>C | CA372818715 | SLC1A1,SPATA6L | c.1139T>C (p.Phe380Ser) c.426T>C c.*782-22321A>G (n.*782-22321A>G) c.1208T>C (p.Phe403Ser) c.1148T>C (p.Phe383Ser) c.1079T>C (p.Phe360Ser) c.998T>C (p.Phe333Ser) c.*1+27470A>G (n.*1+27470A>G) c.1100T>C (p.Phe367Ser) c.1031T>C (p.Phe344Ser) n.1478+23944A>G | |
9 | g.4576709T>G | CA372818717 | SLC1A1,SPATA6L | c.1139T>G (p.Phe380Cys) c.426T>G c.*782-22321A>C (n.*782-22321A>C) c.1208T>G (p.Phe403Cys) c.1148T>G (p.Phe383Cys) c.1079T>G (p.Phe360Cys) c.998T>G (p.Phe333Cys) c.*1+27470A>C (n.*1+27470A>C) c.1100T>G (p.Phe367Cys) c.1031T>G (p.Phe344Cys) n.1478+23944A>C | |
9 | g.4576710T>A | CA372818721 | SLC1A1,SPATA6L | c.1140T>A (p.Phe380Leu) c.427T>A c.*782-22322A>T (n.*782-22322A>T) c.1209T>A (p.Phe403Leu) c.1149T>A (p.Phe383Leu) c.1080T>A (p.Phe360Leu) c.999T>A (p.Phe333Leu) c.*1+27469A>T (n.*1+27469A>T) c.1101T>A (p.Phe367Leu) c.1032T>A (p.Phe344Leu) n.1478+23943A>T | |
9 | g.4576710T>C | CA188359079 | SLC1A1,SPATA6L | c.1140T>C (p.Phe380=) c.427T>C c.*782-22322A>G (n.*782-22322A>G) c.1209T>C (p.Phe403=) c.1149T>C (p.Phe383=) c.1080T>C (p.Phe360=) c.999T>C (p.Phe333=) c.*1+27469A>G (n.*1+27469A>G) c.1101T>C (p.Phe367=) c.1032T>C (p.Phe344=) n.1478+23943A>G | dbSNP |
9 | g.4576710T>G | CA372818723 | SLC1A1,SPATA6L | c.1140T>G (p.Phe380Leu) c.427T>G c.*782-22322A>C (n.*782-22322A>C) c.1209T>G (p.Phe403Leu) c.1149T>G (p.Phe383Leu) c.1080T>G (p.Phe360Leu) c.999T>G (p.Phe333Leu) c.*1+27469A>C (n.*1+27469A>C) c.1101T>G (p.Phe367Leu) c.1032T>G (p.Phe344Leu) n.1478+23943A>C | |
9 | g.4576710T= | CA1829385641 | SLC1A1,SPATA6L | c.1140T= (p.Phe380=) c.427T= c.*782-22322A= (n.*782-22322A=) c.1209T= (p.Phe403=) c.1149T= (p.Phe383=) c.1080T= (p.Phe360=) c.999T= (p.Phe333=) c.*1+27469A= (n.*1+27469A=) c.1101T= (p.Phe367=) c.1032T= (p.Phe344=) n.1478+23943A= | |
9 | g.4576711A>C | CA372818726 | SLC1A1,SPATA6L | c.1141A>C (p.Ile381Leu) c.428A>C c.*782-22323T>G (n.*782-22323T>G) c.1210A>C (p.Ile404Leu) c.1150A>C (p.Ile384Leu) c.1081A>C (p.Ile361Leu) c.1000A>C (p.Ile334Leu) c.*1+27468T>G (n.*1+27468T>G) c.1102A>C (p.Ile368Leu) c.1033A>C (p.Ile345Leu) n.1478+23942T>G | |
9 | g.4576711A>G | CA372818729 | SLC1A1,SPATA6L | c.1141A>G (p.Ile381Val) c.428A>G c.*782-22323T>C (n.*782-22323T>C) c.1210A>G (p.Ile404Val) c.1150A>G (p.Ile384Val) c.1081A>G (p.Ile361Val) c.1000A>G (p.Ile334Val) c.*1+27468T>C (n.*1+27468T>C) c.1102A>G (p.Ile368Val) c.1033A>G (p.Ile345Val) n.1478+23942T>C | |
9 | g.4576711A>T | CA372818728 | SLC1A1,SPATA6L | c.1141A>T (p.Ile381Phe) c.428A>T c.*782-22323T>A (n.*782-22323T>A) c.1210A>T (p.Ile404Phe) c.1150A>T (p.Ile384Phe) c.1081A>T (p.Ile361Phe) c.1000A>T (p.Ile334Phe) c.*1+27468T>A (n.*1+27468T>A) c.1102A>T (p.Ile368Phe) c.1033A>T (p.Ile345Phe) n.1478+23942T>A | |
9 | g.4576712T>A | CA372818730 | SLC1A1,SPATA6L | c.1142T>A (p.Ile381Asn) c.429T>A c.*782-22324A>T (n.*782-22324A>T) c.1211T>A (p.Ile404Asn) c.1151T>A (p.Ile384Asn) c.1082T>A (p.Ile361Asn) c.1001T>A (p.Ile334Asn) c.*1+27467A>T (n.*1+27467A>T) c.1103T>A (p.Ile368Asn) c.1034T>A (p.Ile345Asn) n.1478+23941A>T | |
9 | g.4576712T>C | CA372818731 | SLC1A1,SPATA6L | c.1142T>C (p.Ile381Thr) c.429T>C c.*782-22324A>G (n.*782-22324A>G) c.1211T>C (p.Ile404Thr) c.1151T>C (p.Ile384Thr) c.1082T>C (p.Ile361Thr) c.1001T>C (p.Ile334Thr) c.*1+27467A>G (n.*1+27467A>G) c.1103T>C (p.Ile368Thr) c.1034T>C (p.Ile345Thr) n.1478+23941A>G | |
9 | g.4576712T>G | CA372818734 | SLC1A1,SPATA6L | c.1142T>G (p.Ile381Ser) c.429T>G c.*782-22324A>C (n.*782-22324A>C) c.1211T>G (p.Ile404Ser) c.1151T>G (p.Ile384Ser) c.1082T>G (p.Ile361Ser) c.1001T>G (p.Ile334Ser) c.*1+27467A>C (n.*1+27467A>C) c.1103T>G (p.Ile368Ser) c.1034T>G (p.Ile345Ser) n.1478+23941A>C | |
9 | g.4576713T>A | CA463728627 | SLC1A1,SPATA6L | c.1143T>A (p.Ile381=) c.430T>A c.*782-22325A>T (n.*782-22325A>T) c.1212T>A (p.Ile404=) c.1152T>A (p.Ile384=) c.1083T>A (p.Ile361=) c.1002T>A (p.Ile334=) c.*1+27466A>T (n.*1+27466A>T) c.1104T>A (p.Ile368=) c.1035T>A (p.Ile345=) n.1478+23940A>T | |
9 | g.4576713T>C | CA463728628 | SLC1A1,SPATA6L | c.1143T>C (p.Ile381=) c.430T>C c.*782-22325A>G (n.*782-22325A>G) c.1212T>C (p.Ile404=) c.1152T>C (p.Ile384=) c.1083T>C (p.Ile361=) c.1002T>C (p.Ile334=) c.*1+27466A>G (n.*1+27466A>G) c.1104T>C (p.Ile368=) c.1035T>C (p.Ile345=) n.1478+23940A>G | gnomAD v4 |
9 | g.4576713T>G | CA372818739 | SLC1A1,SPATA6L | c.1143T>G (p.Ile381Met) c.430T>G c.*782-22325A>C (n.*782-22325A>C) c.1212T>G (p.Ile404Met) c.1152T>G (p.Ile384Met) c.1083T>G (p.Ile361Met) c.1002T>G (p.Ile334Met) c.*1+27466A>C (n.*1+27466A>C) c.1104T>G (p.Ile368Met) c.1035T>G (p.Ile345Met) n.1478+23940A>C | dbSNP gnomAD v4 |
9 | g.4576713T= | CA1829385644 | SLC1A1,SPATA6L | c.1143T= (p.Ile381=) c.430T= c.*782-22325A= (n.*782-22325A=) c.1212T= (p.Ile404=) c.1152T= (p.Ile384=) c.1083T= (p.Ile361=) c.1002T= (p.Ile334=) c.*1+27466A= (n.*1+27466A=) c.1104T= (p.Ile368=) c.1035T= (p.Ile345=) n.1478+23940A= | |
9 | g.4576714G>A | CA372818742 | SLC1A1,SPATA6L | c.1144G>A (p.Ala382Thr) c.431G>A c.*782-22326C>T (n.*782-22326C>T) c.1213G>A (p.Ala405Thr) c.1153G>A (p.Ala385Thr) c.1084G>A (p.Ala362Thr) c.1003G>A (p.Ala335Thr) c.*1+27465C>T (n.*1+27465C>T) c.1105G>A (p.Ala369Thr) c.1036G>A (p.Ala346Thr) n.1478+23939C>T | |
9 | g.4576714G>C | CA372818744 | SLC1A1,SPATA6L | c.1144G>C (p.Ala382Pro) c.431G>C c.*782-22326C>G (n.*782-22326C>G) c.1213G>C (p.Ala405Pro) c.1153G>C (p.Ala385Pro) c.1084G>C (p.Ala362Pro) c.1003G>C (p.Ala335Pro) c.*1+27465C>G (n.*1+27465C>G) c.1105G>C (p.Ala369Pro) c.1036G>C (p.Ala346Pro) n.1478+23939C>G | |
9 | g.4576714G>T | CA372818746 | SLC1A1,SPATA6L | c.1144G>T (p.Ala382Ser) c.431G>T c.*782-22326C>A (n.*782-22326C>A) c.1213G>T (p.Ala405Ser) c.1153G>T (p.Ala385Ser) c.1084G>T (p.Ala362Ser) c.1003G>T (p.Ala335Ser) c.*1+27465C>A (n.*1+27465C>A) c.1105G>T (p.Ala369Ser) c.1036G>T (p.Ala346Ser) n.1478+23939C>A | |
9 | g.4576715C>A | CA372818748 | SLC1A1,SPATA6L | c.1145C>A (p.Ala382Glu) c.432C>A c.*782-22327G>T (n.*782-22327G>T) c.1214C>A (p.Ala405Glu) c.1154C>A (p.Ala385Glu) c.1085C>A (p.Ala362Glu) c.1004C>A (p.Ala335Glu) c.*1+27464G>T (n.*1+27464G>T) c.1106C>A (p.Ala369Glu) c.1037C>A (p.Ala346Glu) n.1478+23938G>T | |
9 | g.4576715C>G | CA372818750 | SLC1A1,SPATA6L | c.1145C>G (p.Ala382Gly) c.432C>G c.*782-22327G>C (n.*782-22327G>C) c.1214C>G (p.Ala405Gly) c.1154C>G (p.Ala385Gly) c.1085C>G (p.Ala362Gly) c.1004C>G (p.Ala335Gly) c.*1+27464G>C (n.*1+27464G>C) c.1106C>G (p.Ala369Gly) c.1037C>G (p.Ala346Gly) n.1478+23938G>C | |
9 | g.4576715C>T | CA372818753 | SLC1A1,SPATA6L | c.1145C>T (p.Ala382Val) c.432C>T c.*782-22327G>A (n.*782-22327G>A) c.1214C>T (p.Ala405Val) c.1154C>T (p.Ala385Val) c.1085C>T (p.Ala362Val) c.1004C>T (p.Ala335Val) c.*1+27464G>A (n.*1+27464G>A) c.1106C>T (p.Ala369Val) c.1037C>T (p.Ala346Val) n.1478+23938G>A | |
9 | g.4576716A= | CA1829385647 | SLC1A1,SPATA6L | c.1146A= (p.Ala382=) c.433A= c.*782-22328T= (n.*782-22328T=) c.1215A= (p.Ala405=) c.1155A= (p.Ala385=) c.1086A= (p.Ala362=) c.1005A= (p.Ala335=) c.*1+27463T= (n.*1+27463T=) c.1107A= (p.Ala369=) c.1038A= (p.Ala346=) n.1478+23937T= | |
9 | g.4576716A>C | CA463728629 | SLC1A1,SPATA6L | c.1146A>C (p.Ala382=) c.433A>C c.*782-22328T>G (n.*782-22328T>G) c.1215A>C (p.Ala405=) c.1155A>C (p.Ala385=) c.1086A>C (p.Ala362=) c.1005A>C (p.Ala335=) c.*1+27463T>G (n.*1+27463T>G) c.1107A>C (p.Ala369=) c.1038A>C (p.Ala346=) n.1478+23937T>G | |
9 | g.4576716A>G | CA463728630 | SLC1A1,SPATA6L | c.1146A>G (p.Ala382=) c.433A>G c.*782-22328T>C (n.*782-22328T>C) c.1215A>G (p.Ala405=) c.1155A>G (p.Ala385=) c.1086A>G (p.Ala362=) c.1005A>G (p.Ala335=) c.*1+27463T>C (n.*1+27463T>C) c.1107A>G (p.Ala369=) c.1038A>G (p.Ala346=) n.1478+23937T>C | dbSNP gnomAD v4 |
9 | g.4576716A>T | CA463728631 | SLC1A1,SPATA6L | c.1146A>T (p.Ala382=) c.433A>T c.*782-22328T>A (n.*782-22328T>A) c.1215A>T (p.Ala405=) c.1155A>T (p.Ala385=) c.1086A>T (p.Ala362=) c.1005A>T (p.Ala335=) c.*1+27463T>A (n.*1+27463T>A) c.1107A>T (p.Ala369=) c.1038A>T (p.Ala346=) n.1478+23937T>A | |
9 | g.4576717C>A | CA372818757 | SLC1A1,SPATA6L | c.1147C>A (p.Gln383Lys) c.434C>A c.*782-22329G>T (n.*782-22329G>T) c.1216C>A (p.Gln406Lys) c.1156C>A (p.Gln386Lys) c.1087C>A (p.Gln363Lys) c.1006C>A (p.Gln336Lys) c.*1+27462G>T (n.*1+27462G>T) c.1108C>A (p.Gln370Lys) c.1039C>A (p.Gln347Lys) n.1478+23936G>T | gnomAD v4 |
9 | g.4576717C>G | CA372818756 | SLC1A1,SPATA6L | c.1147C>G (p.Gln383Glu) c.434C>G c.*782-22329G>C (n.*782-22329G>C) c.1216C>G (p.Gln406Glu) c.1156C>G (p.Gln386Glu) c.1087C>G (p.Gln363Glu) c.1006C>G (p.Gln336Glu) c.*1+27462G>C (n.*1+27462G>C) c.1108C>G (p.Gln370Glu) c.1039C>G (p.Gln347Glu) n.1478+23936G>C | gnomAD v4 |
9 | g.4576717C>T | CA372818755 | SLC1A1,SPATA6L | c.1147C>T (p.Gln383Ter) c.434C>T c.*782-22329G>A (n.*782-22329G>A) c.1216C>T (p.Gln406Ter) c.1156C>T (p.Gln386Ter) c.1087C>T (p.Gln363Ter) c.1006C>T (p.Gln336Ter) c.*1+27462G>A (n.*1+27462G>A) c.1108C>T (p.Gln370Ter) c.1039C>T (p.Gln347Ter) n.1478+23936G>A | |
9 | g.4576718A>C | CA372818758 | SLC1A1,SPATA6L | c.1148A>C (p.Gln383Pro) c.435A>C c.*782-22330T>G (n.*782-22330T>G) c.1217A>C (p.Gln406Pro) c.1157A>C (p.Gln386Pro) c.1088A>C (p.Gln363Pro) c.1007A>C (p.Gln336Pro) c.*1+27461T>G (n.*1+27461T>G) c.1109A>C (p.Gln370Pro) c.1040A>C (p.Gln347Pro) n.1478+23935T>G | gnomAD v4 |
9 | g.4576718A>G | CA372818759 | SLC1A1,SPATA6L | c.1148A>G (p.Gln383Arg) c.435A>G c.*782-22330T>C (n.*782-22330T>C) c.1217A>G (p.Gln406Arg) c.1157A>G (p.Gln386Arg) c.1088A>G (p.Gln363Arg) c.1007A>G (p.Gln336Arg) c.*1+27461T>C (n.*1+27461T>C) c.1109A>G (p.Gln370Arg) c.1040A>G (p.Gln347Arg) n.1478+23935T>C | gnomAD v4 |
9 | g.4576718A>T | CA372818762 | SLC1A1,SPATA6L | c.1148A>T (p.Gln383Leu) c.435A>T c.*782-22330T>A (n.*782-22330T>A) c.1217A>T (p.Gln406Leu) c.1157A>T (p.Gln386Leu) c.1088A>T (p.Gln363Leu) c.1007A>T (p.Gln336Leu) c.*1+27461T>A (n.*1+27461T>A) c.1109A>T (p.Gln370Leu) c.1040A>T (p.Gln347Leu) n.1478+23935T>A | |
9 | g.4576719G>A | CA4969244 | SLC1A1,SPATA6L | c.1149G>A (p.Gln383=) c.436G>A c.*782-22331C>T (n.*782-22331C>T) c.1218G>A (p.Gln406=) c.1158G>A (p.Gln386=) c.1089G>A (p.Gln363=) c.1008G>A (p.Gln336=) c.*1+27460C>T (n.*1+27460C>T) c.1110G>A (p.Gln370=) c.1041G>A (p.Gln347=) n.1478+23934C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576719G>C | CA372818764 | SLC1A1,SPATA6L | c.1149G>C (p.Gln383His) c.436G>C c.*782-22331C>G (n.*782-22331C>G) c.1218G>C (p.Gln406His) c.1158G>C (p.Gln386His) c.1089G>C (p.Gln363His) c.1008G>C (p.Gln336His) c.*1+27460C>G (n.*1+27460C>G) c.1110G>C (p.Gln370His) c.1041G>C (p.Gln347His) n.1478+23934C>G | |
9 | g.4576719G= | CA1829385649 | SLC1A1,SPATA6L | c.1149G= (p.Gln383=) c.436G= c.*782-22331C= (n.*782-22331C=) c.1218G= (p.Gln406=) c.1158G= (p.Gln386=) c.1089G= (p.Gln363=) c.1008G= (p.Gln336=) c.*1+27460C= (n.*1+27460C=) c.1110G= (p.Gln370=) c.1041G= (p.Gln347=) n.1478+23934C= | |
9 | g.4576719G>T | CA372818765 | SLC1A1,SPATA6L | c.1149G>T (p.Gln383His) c.436G>T c.*782-22331C>A (n.*782-22331C>A) c.1218G>T (p.Gln406His) c.1158G>T (p.Gln386His) c.1089G>T (p.Gln363His) c.1008G>T (p.Gln336His) c.*1+27460C>A (n.*1+27460C>A) c.1110G>T (p.Gln370His) c.1041G>T (p.Gln347His) n.1478+23934C>A | |
9 | g.4576720T>A | CA372818771 | SLC1A1,SPATA6L | c.1150T>A (p.Leu384Met) c.437T>A c.*782-22332A>T (n.*782-22332A>T) c.1219T>A (p.Leu407Met) c.1159T>A (p.Leu387Met) c.1090T>A (p.Leu364Met) c.1009T>A (p.Leu337Met) c.*1+27459A>T (n.*1+27459A>T) c.1111T>A (p.Leu371Met) c.1042T>A (p.Leu348Met) n.1478+23933A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576720T>C | CA4969245 | SLC1A1,SPATA6L | c.1150T>C (p.Leu384=) c.437T>C c.*782-22332A>G (n.*782-22332A>G) c.1219T>C (p.Leu407=) c.1159T>C (p.Leu387=) c.1090T>C (p.Leu364=) c.1009T>C (p.Leu337=) c.*1+27459A>G (n.*1+27459A>G) c.1111T>C (p.Leu371=) c.1042T>C (p.Leu348=) n.1478+23933A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576720T>G | CA372818768 | SLC1A1,SPATA6L | c.1150T>G (p.Leu384Val) c.437T>G c.*782-22332A>C (n.*782-22332A>C) c.1219T>G (p.Leu407Val) c.1159T>G (p.Leu387Val) c.1090T>G (p.Leu364Val) c.1009T>G (p.Leu337Val) c.*1+27459A>C (n.*1+27459A>C) c.1111T>G (p.Leu371Val) c.1042T>G (p.Leu348Val) n.1478+23933A>C | |
9 | g.4576720T= | CA1829385655 | SLC1A1,SPATA6L | c.1150T= (p.Leu384=) c.437T= c.*782-22332A= (n.*782-22332A=) c.1219T= (p.Leu407=) c.1159T= (p.Leu387=) c.1090T= (p.Leu364=) c.1009T= (p.Leu337=) c.*1+27459A= (n.*1+27459A=) c.1111T= (p.Leu371=) c.1042T= (p.Leu348=) n.1478+23933A= | |
9 | g.4576721T>A | CA372818774 | SLC1A1,SPATA6L | c.1151T>A (p.Leu384Ter) c.438T>A c.*782-22333A>T (n.*782-22333A>T) c.1220T>A (p.Leu407Ter) c.1160T>A (p.Leu387Ter) c.1091T>A (p.Leu364Ter) c.1010T>A (p.Leu337Ter) c.*1+27458A>T (n.*1+27458A>T) c.1112T>A (p.Leu371Ter) c.1043T>A (p.Leu348Ter) n.1478+23932A>T | |
9 | g.4576721T>C | CA372818785 | SLC1A1,SPATA6L | c.1151T>C (p.Leu384Ser) c.438T>C c.*782-22333A>G (n.*782-22333A>G) c.1220T>C (p.Leu407Ser) c.1160T>C (p.Leu387Ser) c.1091T>C (p.Leu364Ser) c.1010T>C (p.Leu337Ser) c.*1+27458A>G (n.*1+27458A>G) c.1112T>C (p.Leu371Ser) c.1043T>C (p.Leu348Ser) n.1478+23932A>G | gnomAD v4 |
9 | g.4576721T>G | CA372818788 | SLC1A1,SPATA6L | c.1151T>G (p.Leu384Trp) c.438T>G c.*782-22333A>C (n.*782-22333A>C) c.1220T>G (p.Leu407Trp) c.1160T>G (p.Leu387Trp) c.1091T>G (p.Leu364Trp) c.1010T>G (p.Leu337Trp) c.*1+27458A>C (n.*1+27458A>C) c.1112T>G (p.Leu371Trp) c.1043T>G (p.Leu348Trp) n.1478+23932A>C | |
9 | g.4576722G>A | CA463728632 | SLC1A1,SPATA6L | c.1152G>A (p.Leu384=) c.439G>A c.*782-22334C>T (n.*782-22334C>T) c.1221G>A (p.Leu407=) c.1161G>A (p.Leu387=) c.1092G>A (p.Leu364=) c.1011G>A (p.Leu337=) c.*1+27457C>T (n.*1+27457C>T) c.1113G>A (p.Leu371=) c.1044G>A (p.Leu348=) n.1478+23931C>T | |
9 | g.4576722G>C | CA372818792 | SLC1A1,SPATA6L | c.1152G>C (p.Leu384Phe) c.439G>C c.*782-22334C>G (n.*782-22334C>G) c.1221G>C (p.Leu407Phe) c.1161G>C (p.Leu387Phe) c.1092G>C (p.Leu364Phe) c.1011G>C (p.Leu337Phe) c.*1+27457C>G (n.*1+27457C>G) c.1113G>C (p.Leu371Phe) c.1044G>C (p.Leu348Phe) n.1478+23931C>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.4576722G= | CA1829385658 | SLC1A1,SPATA6L | c.1152G= (p.Leu384=) c.439G= c.*782-22334C= (n.*782-22334C=) c.1221G= (p.Leu407=) c.1161G= (p.Leu387=) c.1092G= (p.Leu364=) c.1011G= (p.Leu337=) c.*1+27457C= (n.*1+27457C=) c.1113G= (p.Leu371=) c.1044G= (p.Leu348=) n.1478+23931C= | |
9 | g.4576722G>T | CA372818798 | SLC1A1,SPATA6L | c.1152G>T (p.Leu384Phe) c.439G>T c.*782-22334C>A (n.*782-22334C>A) c.1221G>T (p.Leu407Phe) c.1161G>T (p.Leu387Phe) c.1092G>T (p.Leu364Phe) c.1011G>T (p.Leu337Phe) c.*1+27457C>A (n.*1+27457C>A) c.1113G>T (p.Leu371Phe) c.1044G>T (p.Leu348Phe) n.1478+23931C>A | |
9 | g.4576723A>C | CA372818801 | SLC1A1,SPATA6L | c.1153A>C (p.Asn385His) c.440A>C c.*782-22335T>G (n.*782-22335T>G) c.1222A>C (p.Asn408His) c.1162A>C (p.Asn388His) c.1093A>C (p.Asn365His) c.1012A>C (p.Asn338His) c.*1+27456T>G (n.*1+27456T>G) c.1114A>C (p.Asn372His) c.1045A>C (p.Asn349His) n.1478+23930T>G | |
9 | g.4576723A>G | CA372818807 | SLC1A1,SPATA6L | c.1153A>G (p.Asn385Asp) c.440A>G c.*782-22335T>C (n.*782-22335T>C) c.1222A>G (p.Asn408Asp) c.1162A>G (p.Asn388Asp) c.1093A>G (p.Asn365Asp) c.1012A>G (p.Asn338Asp) c.*1+27456T>C (n.*1+27456T>C) c.1114A>G (p.Asn372Asp) c.1045A>G (p.Asn349Asp) n.1478+23930T>C | |
9 | g.4576723A>T | CA372818804 | SLC1A1,SPATA6L | c.1153A>T (p.Asn385Tyr) c.440A>T c.*782-22335T>A (n.*782-22335T>A) c.1222A>T (p.Asn408Tyr) c.1162A>T (p.Asn388Tyr) c.1093A>T (p.Asn365Tyr) c.1012A>T (p.Asn338Tyr) c.*1+27456T>A (n.*1+27456T>A) c.1114A>T (p.Asn372Tyr) c.1045A>T (p.Asn349Tyr) n.1478+23930T>A | |
9 | g.4576724A= | CA1829385662 | SLC1A1,SPATA6L | c.1154A= (p.Asn385=) c.441A= c.*782-22336T= (n.*782-22336T=) c.1223A= (p.Asn408=) c.1163A= (p.Asn388=) c.1094A= (p.Asn365=) c.1013A= (p.Asn338=) c.*1+27455T= (n.*1+27455T=) c.1115A= (p.Asn372=) c.1046A= (p.Asn349=) n.1478+23929T= | |
9 | g.4576724A>C | CA372818808 | SLC1A1,SPATA6L | c.1154A>C (p.Asn385Thr) c.441A>C c.*782-22336T>G (n.*782-22336T>G) c.1223A>C (p.Asn408Thr) c.1163A>C (p.Asn388Thr) c.1094A>C (p.Asn365Thr) c.1013A>C (p.Asn338Thr) c.*1+27455T>G (n.*1+27455T>G) c.1115A>C (p.Asn372Thr) c.1046A>C (p.Asn349Thr) n.1478+23929T>G | |
9 | g.4576724A>G | CA372818809 | SLC1A1,SPATA6L | c.1154A>G (p.Asn385Ser) c.441A>G c.*782-22336T>C (n.*782-22336T>C) c.1223A>G (p.Asn408Ser) c.1163A>G (p.Asn388Ser) c.1094A>G (p.Asn365Ser) c.1013A>G (p.Asn338Ser) c.*1+27455T>C (n.*1+27455T>C) c.1115A>G (p.Asn372Ser) c.1046A>G (p.Asn349Ser) n.1478+23929T>C | dbSNP |
9 | g.4576724A>T | CA372818811 | SLC1A1,SPATA6L | c.1154A>T (p.Asn385Ile) c.441A>T c.*782-22336T>A (n.*782-22336T>A) c.1223A>T (p.Asn408Ile) c.1163A>T (p.Asn388Ile) c.1094A>T (p.Asn365Ile) c.1013A>T (p.Asn338Ile) c.*1+27455T>A (n.*1+27455T>A) c.1115A>T (p.Asn372Ile) c.1046A>T (p.Asn349Ile) n.1478+23929T>A | |
9 | g.4576725T>A | CA372818813 | SLC1A1,SPATA6L | c.1155T>A (p.Asn385Lys) c.442T>A c.*782-22337A>T (n.*782-22337A>T) c.1224T>A (p.Asn408Lys) c.1164T>A (p.Asn388Lys) c.1095T>A (p.Asn365Lys) c.1014T>A (p.Asn338Lys) c.*1+27454A>T (n.*1+27454A>T) c.1116T>A (p.Asn372Lys) c.1047T>A (p.Asn349Lys) n.1478+23928A>T | dbSNP |
9 | g.4576725T>C | CA463728641 | SLC1A1,SPATA6L | c.1155T>C (p.Asn385=) c.442T>C c.*782-22337A>G (n.*782-22337A>G) c.1224T>C (p.Asn408=) c.1164T>C (p.Asn388=) c.1095T>C (p.Asn365=) c.1014T>C (p.Asn338=) c.*1+27454A>G (n.*1+27454A>G) c.1116T>C (p.Asn372=) c.1047T>C (p.Asn349=) n.1478+23928A>G | dbSNP |
9 | g.4576725T>G | CA372818816 | SLC1A1,SPATA6L | c.1155T>G (p.Asn385Lys) c.442T>G c.*782-22337A>C (n.*782-22337A>C) c.1224T>G (p.Asn408Lys) c.1164T>G (p.Asn388Lys) c.1095T>G (p.Asn365Lys) c.1014T>G (p.Asn338Lys) c.*1+27454A>C (n.*1+27454A>C) c.1116T>G (p.Asn372Lys) c.1047T>G (p.Asn349Lys) n.1478+23928A>C | |
9 | g.4576725T= | CA1829385665 | SLC1A1,SPATA6L | c.1155T= (p.Asn385=) c.442T= c.*782-22337A= (n.*782-22337A=) c.1224T= (p.Asn408=) c.1164T= (p.Asn388=) c.1095T= (p.Asn365=) c.1014T= (p.Asn338=) c.*1+27454A= (n.*1+27454A=) c.1116T= (p.Asn372=) c.1047T= (p.Asn349=) n.1478+23928A= | |
9 | g.4576726G>A | CA372818820 | SLC1A1,SPATA6L | c.1156G>A (p.Asp386Asn) c.443G>A c.*782-22338C>T (n.*782-22338C>T) c.1225G>A (p.Asp409Asn) c.1165G>A (p.Asp389Asn) c.1096G>A (p.Asp366Asn) c.1015G>A (p.Asp339Asn) c.*1+27453C>T (n.*1+27453C>T) c.1117G>A (p.Asp373Asn) c.1048G>A (p.Asp350Asn) n.1478+23927C>T | |
9 | g.4576726G>C | CA372818822 | SLC1A1,SPATA6L | c.1156G>C (p.Asp386His) c.443G>C c.*782-22338C>G (n.*782-22338C>G) c.1225G>C (p.Asp409His) c.1165G>C (p.Asp389His) c.1096G>C (p.Asp366His) c.1015G>C (p.Asp339His) c.*1+27453C>G (n.*1+27453C>G) c.1117G>C (p.Asp373His) c.1048G>C (p.Asp350His) n.1478+23927C>G | gnomAD v4 |
9 | g.4576726G>T | CA372818824 | SLC1A1,SPATA6L | c.1156G>T (p.Asp386Tyr) c.443G>T c.*782-22338C>A (n.*782-22338C>A) c.1225G>T (p.Asp409Tyr) c.1165G>T (p.Asp389Tyr) c.1096G>T (p.Asp366Tyr) c.1015G>T (p.Asp339Tyr) c.*1+27453C>A (n.*1+27453C>A) c.1117G>T (p.Asp373Tyr) c.1048G>T (p.Asp350Tyr) n.1478+23927C>A | gnomAD v4 |
9 | g.4576727A>C | CA372818827 | SLC1A1,SPATA6L | c.1157A>C (p.Asp386Ala) c.444A>C c.*782-22339T>G (n.*782-22339T>G) c.1226A>C (p.Asp409Ala) c.1166A>C (p.Asp389Ala) c.1097A>C (p.Asp366Ala) c.1016A>C (p.Asp339Ala) c.*1+27452T>G (n.*1+27452T>G) c.1118A>C (p.Asp373Ala) c.1049A>C (p.Asp350Ala) n.1478+23926T>G | |
9 | g.4576727A>G | CA372818828 | SLC1A1,SPATA6L | c.1157A>G (p.Asp386Gly) c.444A>G c.*782-22339T>C (n.*782-22339T>C) c.1226A>G (p.Asp409Gly) c.1166A>G (p.Asp389Gly) c.1097A>G (p.Asp366Gly) c.1016A>G (p.Asp339Gly) c.*1+27452T>C (n.*1+27452T>C) c.1118A>G (p.Asp373Gly) c.1049A>G (p.Asp350Gly) n.1478+23926T>C | gnomAD v4 |
9 | g.4576727A>T | CA372818831 | SLC1A1,SPATA6L | c.1157A>T (p.Asp386Val) c.444A>T c.*782-22339T>A (n.*782-22339T>A) c.1226A>T (p.Asp409Val) c.1166A>T (p.Asp389Val) c.1097A>T (p.Asp366Val) c.1016A>T (p.Asp339Val) c.*1+27452T>A (n.*1+27452T>A) c.1118A>T (p.Asp373Val) c.1049A>T (p.Asp350Val) n.1478+23926T>A | |
9 | g.4576728C>A | CA372818833 | SLC1A1,SPATA6L | c.1158C>A (p.Asp386Glu) c.445C>A c.*782-22340G>T (n.*782-22340G>T) c.1227C>A (p.Asp409Glu) c.1167C>A (p.Asp389Glu) c.1098C>A (p.Asp366Glu) c.1017C>A (p.Asp339Glu) c.*1+27451G>T (n.*1+27451G>T) c.1119C>A (p.Asp373Glu) c.1050C>A (p.Asp350Glu) n.1478+23925G>T | |
9 | g.4576728C>G | CA372818834 | SLC1A1,SPATA6L | c.1158C>G (p.Asp386Glu) c.445C>G c.*782-22340G>C (n.*782-22340G>C) c.1227C>G (p.Asp409Glu) c.1167C>G (p.Asp389Glu) c.1098C>G (p.Asp366Glu) c.1017C>G (p.Asp339Glu) c.*1+27451G>C (n.*1+27451G>C) c.1119C>G (p.Asp373Glu) c.1050C>G (p.Asp350Glu) n.1478+23925G>C | |
9 | g.4576728C>T | CA463728651 | SLC1A1,SPATA6L | c.1158C>T (p.Asp386=) c.445C>T c.*782-22340G>A (n.*782-22340G>A) c.1227C>T (p.Asp409=) c.1167C>T (p.Asp389=) c.1098C>T (p.Asp366=) c.1017C>T (p.Asp339=) c.*1+27451G>A (n.*1+27451G>A) c.1119C>T (p.Asp373=) c.1050C>T (p.Asp350=) n.1478+23925G>A | gnomAD v4 |
9 | g.4576729C>A | CA372818839 | SLC1A1,SPATA6L | c.1159C>A (p.Leu387Met) c.446C>A c.*782-22341G>T (n.*782-22341G>T) c.1228C>A (p.Leu410Met) c.1168C>A (p.Leu390Met) c.1099C>A (p.Leu367Met) c.1018C>A (p.Leu340Met) c.*1+27450G>T (n.*1+27450G>T) c.1120C>A (p.Leu374Met) c.1051C>A (p.Leu351Met) n.1478+23924G>T | |
9 | g.4576729C>G | CA372818842 | SLC1A1,SPATA6L | c.1159C>G (p.Leu387Val) c.446C>G c.*782-22341G>C (n.*782-22341G>C) c.1228C>G (p.Leu410Val) c.1168C>G (p.Leu390Val) c.1099C>G (p.Leu367Val) c.1018C>G (p.Leu340Val) c.*1+27450G>C (n.*1+27450G>C) c.1120C>G (p.Leu374Val) c.1051C>G (p.Leu351Val) n.1478+23924G>C | |
9 | g.4576729C>T | CA463728655 | SLC1A1,SPATA6L | c.1159C>T (p.Leu387=) c.446C>T c.*782-22341G>A (n.*782-22341G>A) c.1228C>T (p.Leu410=) c.1168C>T (p.Leu390=) c.1099C>T (p.Leu367=) c.1018C>T (p.Leu340=) c.*1+27450G>A (n.*1+27450G>A) c.1120C>T (p.Leu374=) c.1051C>T (p.Leu351=) n.1478+23924G>A | |
9 | g.4576729_4576730insAAGTCCAGGTCATTCAACTG | CA2830545948 | SLC1A1,SPATA6L | c.1159_1160insAAGTCCAGGTCATTCAACTG (p.Leu387GlnfsTer?) c.446_447insAAGTCCAGGTCATTCAACTG c.*782-22342_*782-22341insCAGTTGAATGACCTGGACTT (n.*782-22342_*782-22341insCAGTTGAATGACCTGGACTT) c.1228_1229insAAGTCCAGGTCATTCAACTG (p.Leu410GlnfsTer?) c.1168_1169insAAGTCCAGGTCATTCAACTG (p.Leu390GlnfsTer?) c.1099_1100insAAGTCCAGGTCATTCAACTG (p.Leu367GlnfsTer?) c.1018_1019insAAGTCCAGGTCATTCAACTG (p.Leu340GlnfsTer?) c.*1+27449_*1+27450insCAGTTGAATGACCTGGACTT (n.*1+27449_*1+27450insCAGTTGAATGACCTGGACTT) c.1120_1121insAAGTCCAGGTCATTCAACTG (p.Leu374GlnfsTer?) c.1051_1052insAAGTCCAGGTCATTCAACTG (p.Leu351GlnfsTer?) n.1478+23923_1478+23924insCAGTTGAATGACCTGGACTT | |
9 | g.4576730T>A | CA372818846 | SLC1A1,SPATA6L | c.1160T>A (p.Leu387Gln) c.447T>A c.*782-22342A>T (n.*782-22342A>T) c.1229T>A (p.Leu410Gln) c.1169T>A (p.Leu390Gln) c.1100T>A (p.Leu367Gln) c.1019T>A (p.Leu340Gln) c.*1+27449A>T (n.*1+27449A>T) c.1121T>A (p.Leu374Gln) c.1052T>A (p.Leu351Gln) n.1478+23923A>T | |
9 | g.4576730T>C | CA372818849 | SLC1A1,SPATA6L | c.1160T>C (p.Leu387Pro) c.447T>C c.*782-22342A>G (n.*782-22342A>G) c.1229T>C (p.Leu410Pro) c.1169T>C (p.Leu390Pro) c.1100T>C (p.Leu367Pro) c.1019T>C (p.Leu340Pro) c.*1+27449A>G (n.*1+27449A>G) c.1121T>C (p.Leu374Pro) c.1052T>C (p.Leu351Pro) n.1478+23923A>G | |
9 | g.4576730T>G | CA372818850 | SLC1A1,SPATA6L | c.1160T>G (p.Leu387Arg) c.447T>G c.*782-22342A>C (n.*782-22342A>C) c.1229T>G (p.Leu410Arg) c.1169T>G (p.Leu390Arg) c.1100T>G (p.Leu367Arg) c.1019T>G (p.Leu340Arg) c.*1+27449A>C (n.*1+27449A>C) c.1121T>G (p.Leu374Arg) c.1052T>G (p.Leu351Arg) n.1478+23923A>C | |
9 | g.4576731G>A | CA4969246 | SLC1A1,SPATA6L | c.1161G>A (p.Leu387=) c.448G>A c.*782-22343C>T (n.*782-22343C>T) c.1230G>A (p.Leu410=) c.1170G>A (p.Leu390=) c.1101G>A (p.Leu367=) c.1020G>A (p.Leu340=) c.*1+27448C>T (n.*1+27448C>T) c.1122G>A (p.Leu374=) c.1053G>A (p.Leu351=) n.1478+23922C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.4576731G>C | CA463728662 | SLC1A1,SPATA6L | c.1161G>C (p.Leu387=) c.448G>C c.*782-22343C>G (n.*782-22343C>G) c.1230G>C (p.Leu410=) c.1170G>C (p.Leu390=) c.1101G>C (p.Leu367=) c.1020G>C (p.Leu340=) c.*1+27448C>G (n.*1+27448C>G) c.1122G>C (p.Leu374=) c.1053G>C (p.Leu351=) n.1478+23922C>G | |
9 | g.4576731G= | CA1829385671 | SLC1A1,SPATA6L | c.1161G= (p.Leu387=) c.448G= c.*782-22343C= (n.*782-22343C=) c.1230G= (p.Leu410=) c.1170G= (p.Leu390=) c.1101G= (p.Leu367=) c.1020G= (p.Leu340=) c.*1+27448C= (n.*1+27448C=) c.1122G= (p.Leu374=) c.1053G= (p.Leu351=) n.1478+23922C= | |
9 | g.4576731G>T | CA463728664 | SLC1A1,SPATA6L | c.1161G>T (p.Leu387=) c.448G>T c.*782-22343C>A (n.*782-22343C>A) c.1230G>T (p.Leu410=) c.1170G>T (p.Leu390=) c.1101G>T (p.Leu367=) c.1020G>T (p.Leu340=) c.*1+27448C>A (n.*1+27448C>A) c.1122G>T (p.Leu374=) c.1053G>T (p.Leu351=) n.1478+23922C>A | |
9 | g.4576732G>A | CA372818856 | SLC1A1,SPATA6L | c.1162G>A (p.Asp388Asn) c.449G>A c.*782-22344C>T (n.*782-22344C>T) c.1231G>A (p.Asp411Asn) c.1171G>A (p.Asp391Asn) c.1102G>A (p.Asp368Asn) c.1021G>A (p.Asp341Asn) c.*1+27447C>T (n.*1+27447C>T) c.1123G>A (p.Asp375Asn) c.1054G>A (p.Asp352Asn) n.1478+23921C>T | |
9 | g.4576732G>C | CA372818859 | SLC1A1,SPATA6L | c.1162G>C (p.Asp388His) c.449G>C c.*782-22344C>G (n.*782-22344C>G) c.1231G>C (p.Asp411His) c.1171G>C (p.Asp391His) c.1102G>C (p.Asp368His) c.1021G>C (p.Asp341His) c.*1+27447C>G (n.*1+27447C>G) c.1123G>C (p.Asp375His) c.1054G>C (p.Asp352His) n.1478+23921C>G | gnomAD v4 |
9 | g.4576732G>T | CA372818863 | SLC1A1,SPATA6L | c.1162G>T (p.Asp388Tyr) c.449G>T c.*782-22344C>A (n.*782-22344C>A) c.1231G>T (p.Asp411Tyr) c.1171G>T (p.Asp391Tyr) c.1102G>T (p.Asp368Tyr) c.1021G>T (p.Asp341Tyr) c.*1+27447C>A (n.*1+27447C>A) c.1123G>T (p.Asp375Tyr) c.1054G>T (p.Asp352Tyr) n.1478+23921C>A | |
9 | g.4576733A>C | CA372818873 | SLC1A1,SPATA6L | c.1163A>C (p.Asp388Ala) c.450A>C c.*782-22345T>G (n.*782-22345T>G) c.1232A>C (p.Asp411Ala) c.1172A>C (p.Asp391Ala) c.1103A>C (p.Asp368Ala) c.1022A>C (p.Asp341Ala) c.*1+27446T>G (n.*1+27446T>G) c.1124A>C (p.Asp375Ala) c.1055A>C (p.Asp352Ala) n.1478+23920T>G | |
9 | g.4576733A>G | CA372818878 | SLC1A1,SPATA6L | c.1163A>G (p.Asp388Gly) c.450A>G c.*782-22345T>C (n.*782-22345T>C) c.1232A>G (p.Asp411Gly) c.1172A>G (p.Asp391Gly) c.1103A>G (p.Asp368Gly) c.1022A>G (p.Asp341Gly) c.*1+27446T>C (n.*1+27446T>C) c.1124A>G (p.Asp375Gly) c.1055A>G (p.Asp352Gly) n.1478+23920T>C | gnomAD v4 |
9 | g.4576733A>T | CA372818876 | SLC1A1,SPATA6L | c.1163A>T (p.Asp388Val) c.450A>T c.*782-22345T>A (n.*782-22345T>A) c.1232A>T (p.Asp411Val) c.1172A>T (p.Asp391Val) c.1103A>T (p.Asp368Val) c.1022A>T (p.Asp341Val) c.*1+27446T>A (n.*1+27446T>A) c.1124A>T (p.Asp375Val) c.1055A>T (p.Asp352Val) n.1478+23920T>A | gnomAD v4 |
9 | g.4576734C>A | CA372818882 | SLC1A1,SPATA6L | c.1164C>A (p.Asp388Glu) c.451C>A c.*782-22346G>T (n.*782-22346G>T) c.1233C>A (p.Asp411Glu) c.1173C>A (p.Asp391Glu) c.1104C>A (p.Asp368Glu) c.1023C>A (p.Asp341Glu) c.*1+27445G>T (n.*1+27445G>T) c.1125C>A (p.Asp375Glu) c.1056C>A (p.Asp352Glu) n.1478+23919G>T | |
9 | g.4576734C>G | CA372818884 | SLC1A1,SPATA6L | c.1164C>G (p.Asp388Glu) c.451C>G c.*782-22346G>C (n.*782-22346G>C) c.1233C>G (p.Asp411Glu) c.1173C>G (p.Asp391Glu) c.1104C>G (p.Asp368Glu) c.1023C>G (p.Asp341Glu) c.*1+27445G>C (n.*1+27445G>C) c.1125C>G (p.Asp375Glu) c.1056C>G (p.Asp352Glu) n.1478+23919G>C | |
9 | g.4576734C>T | CA463728676 | SLC1A1,SPATA6L | c.1164C>T (p.Asp388=) c.451C>T c.*782-22346G>A (n.*782-22346G>A) c.1233C>T (p.Asp411=) c.1173C>T (p.Asp391=) c.1104C>T (p.Asp368=) c.1023C>T (p.Asp341=) c.*1+27445G>A (n.*1+27445G>A) c.1125C>T (p.Asp375=) c.1056C>T (p.Asp352=) n.1478+23919G>A | |
9 | g.4576735T>A | CA372818885 | SLC1A1,SPATA6L | c.1165T>A (p.Leu389Met) c.452T>A c.*782-22347A>T (n.*782-22347A>T) c.1234T>A (p.Leu412Met) c.1174T>A (p.Leu392Met) c.1105T>A (p.Leu369Met) c.1024T>A (p.Leu342Met) c.*1+27444A>T (n.*1+27444A>T) c.1126T>A (p.Leu376Met) c.1057T>A (p.Leu353Met) n.1478+23918A>T | |
9 | g.4576735T>C | CA463728680 | SLC1A1,SPATA6L | c.1165T>C (p.Leu389=) c.452T>C c.*782-22347A>G (n.*782-22347A>G) c.1234T>C (p.Leu412=) c.1174T>C (p.Leu392=) c.1105T>C (p.Leu369=) c.1024T>C (p.Leu342=) c.*1+27444A>G (n.*1+27444A>G) c.1126T>C (p.Leu376=) c.1057T>C (p.Leu353=) n.1478+23918A>G | gnomAD v4 |
9 | g.4576735T>G | CA372818886 | SLC1A1,SPATA6L | c.1165T>G (p.Leu389Val) c.452T>G c.*782-22347A>C (n.*782-22347A>C) c.1234T>G (p.Leu412Val) c.1174T>G (p.Leu392Val) c.1105T>G (p.Leu369Val) c.1024T>G (p.Leu342Val) c.*1+27444A>C (n.*1+27444A>C) c.1126T>G (p.Leu376Val) c.1057T>G (p.Leu353Val) n.1478+23918A>C | |
9 | g.4576736T>A | CA372818887 | SLC1A1,SPATA6L | c.1166T>A (p.Leu389Ter) c.453T>A c.*782-22348A>T (n.*782-22348A>T) c.1235T>A (p.Leu412Ter) c.1175T>A (p.Leu392Ter) c.1106T>A (p.Leu369Ter) c.1025T>A (p.Leu342Ter) c.*1+27443A>T (n.*1+27443A>T) c.1127T>A (p.Leu376Ter) c.1058T>A (p.Leu353Ter) n.1478+23917A>T | |
9 | g.4576736T>C | CA372818891 | SLC1A1,SPATA6L | c.1166T>C (p.Leu389Ser) c.453T>C c.*782-22348A>G (n.*782-22348A>G) c.1235T>C (p.Leu412Ser) c.1175T>C (p.Leu392Ser) c.1106T>C (p.Leu369Ser) c.1025T>C (p.Leu342Ser) c.*1+27443A>G (n.*1+27443A>G) c.1127T>C (p.Leu376Ser) c.1058T>C (p.Leu353Ser) n.1478+23917A>G | |
9 | g.4576736T>G | CA372818889 | SLC1A1,SPATA6L | c.1166T>G (p.Leu389Trp) c.453T>G c.*782-22348A>C (n.*782-22348A>C) c.1235T>G (p.Leu412Trp) c.1175T>G (p.Leu392Trp) c.1106T>G (p.Leu369Trp) c.1025T>G (p.Leu342Trp) c.*1+27443A>C (n.*1+27443A>C) c.1127T>G (p.Leu376Trp) c.1058T>G (p.Leu353Trp) n.1478+23917A>C | |
9 | g.4576737G>A | CA463728685 | SLC1A1,SPATA6L | c.1167G>A (p.Leu389=) c.454G>A c.*782-22349C>T (n.*782-22349C>T) c.1236G>A (p.Leu412=) c.1176G>A (p.Leu392=) c.1107G>A (p.Leu369=) c.1026G>A (p.Leu342=) c.*1+27442C>T (n.*1+27442C>T) c.1128G>A (p.Leu376=) c.1059G>A (p.Leu353=) n.1478+23916C>T | |
9 | g.4576737G>C | CA372818892 | SLC1A1,SPATA6L | c.1167G>C (p.Leu389Phe) c.454G>C c.*782-22349C>G (n.*782-22349C>G) c.1236G>C (p.Leu412Phe) c.1176G>C (p.Leu392Phe) c.1107G>C (p.Leu369Phe) c.1026G>C (p.Leu342Phe) c.*1+27442C>G (n.*1+27442C>G) c.1128G>C (p.Leu376Phe) c.1059G>C (p.Leu353Phe) n.1478+23916C>G | gnomAD v4 |
9 | g.4576737G>T | CA372818893 | SLC1A1,SPATA6L | c.1167G>T (p.Leu389Phe) c.454G>T c.*782-22349C>A (n.*782-22349C>A) c.1236G>T (p.Leu412Phe) c.1176G>T (p.Leu392Phe) c.1107G>T (p.Leu369Phe) c.1026G>T (p.Leu342Phe) c.*1+27442C>A (n.*1+27442C>A) c.1128G>T (p.Leu376Phe) c.1059G>T (p.Leu353Phe) n.1478+23916C>A | gnomAD v4 |
9 | g.4576738G>A | CA372818894 | SLC1A1,SPATA6L | c.1168G>A (p.Gly390Ser) c.455G>A c.*782-22350C>T (n.*782-22350C>T) c.1237G>A (p.Gly413Ser) c.1177G>A (p.Gly393Ser) c.1108G>A (p.Gly370Ser) c.1027G>A (p.Gly343Ser) c.*1+27441C>T (n.*1+27441C>T) c.1129G>A (p.Gly377Ser) c.1060G>A (p.Gly354Ser) n.1478+23915C>T | |
9 | g.4576738G>C | CA372818895 | SLC1A1,SPATA6L | c.1168G>C (p.Gly390Arg) c.455G>C c.*782-22350C>G (n.*782-22350C>G) c.1237G>C (p.Gly413Arg) c.1177G>C (p.Gly393Arg) c.1108G>C (p.Gly370Arg) c.1027G>C (p.Gly343Arg) c.*1+27441C>G (n.*1+27441C>G) c.1129G>C (p.Gly377Arg) c.1060G>C (p.Gly354Arg) n.1478+23915C>G | gnomAD v4 |
9 | g.4576738G>T | CA372818898 | SLC1A1,SPATA6L | c.1168G>T (p.Gly390Cys) c.455G>T c.*782-22350C>A (n.*782-22350C>A) c.1237G>T (p.Gly413Cys) c.1177G>T (p.Gly393Cys) c.1108G>T (p.Gly370Cys) c.1027G>T (p.Gly343Cys) c.*1+27441C>A (n.*1+27441C>A) c.1129G>T (p.Gly377Cys) c.1060G>T (p.Gly354Cys) n.1478+23915C>A | |
9 | g.4576739G>A | CA4969247 | SLC1A1,SPATA6L | c.1169G>A (p.Gly390Asp) c.456G>A c.*782-22351C>T (n.*782-22351C>T) c.1238G>A (p.Gly413Asp) c.1178G>A (p.Gly393Asp) c.1109G>A (p.Gly370Asp) c.1028G>A (p.Gly343Asp) c.*1+27440C>T (n.*1+27440C>T) c.1130G>A (p.Gly377Asp) c.1061G>A (p.Gly354Asp) n.1478+23914C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.4576739G>C | CA188359102 | SLC1A1,SPATA6L | c.1169G>C (p.Gly390Ala) c.456G>C c.*782-22351C>G (n.*782-22351C>G) c.1238G>C (p.Gly413Ala) c.1178G>C (p.Gly393Ala) c.1109G>C (p.Gly370Ala) c.1028G>C (p.Gly343Ala) c.*1+27440C>G (n.*1+27440C>G) c.1130G>C (p.Gly377Ala) c.1061G>C (p.Gly354Ala) n.1478+23914C>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.4576739G= | CA1829385674 | SLC1A1,SPATA6L | c.1169G= (p.Gly390=) c.456G= c.*782-22351C= (n.*782-22351C=) c.1238G= (p.Gly413=) c.1178G= (p.Gly393=) c.1109G= (p.Gly370=) c.1028G= (p.Gly343=) c.*1+27440C= (n.*1+27440C=) c.1130G= (p.Gly377=) c.1061G= (p.Gly354=) n.1478+23914C= | |
9 | g.4576739G>T | CA372818904 | SLC1A1,SPATA6L | c.1169G>T (p.Gly390Val) c.456G>T c.*782-22351C>A (n.*782-22351C>A) c.1238G>T (p.Gly413Val) c.1178G>T (p.Gly393Val) c.1109G>T (p.Gly370Val) c.1028G>T (p.Gly343Val) c.*1+27440C>A (n.*1+27440C>A) c.1130G>T (p.Gly377Val) c.1061G>T (p.Gly354Val) n.1478+23914C>A | |
9 | g.4576740C>A | CA463728698 | SLC1A1,SPATA6L | c.1170C>A (p.Gly390=) c.457C>A c.*782-22352G>T (n.*782-22352G>T) c.1239C>A (p.Gly413=) c.1179C>A (p.Gly393=) c.1110C>A (p.Gly370=) c.1029C>A (p.Gly343=) c.*1+27439G>T (n.*1+27439G>T) c.1131C>A (p.Gly377=) c.1062C>A (p.Gly354=) n.1478+23913G>T | |
9 | g.4576740C= | CA1829385677 | SLC1A1,SPATA6L | c.1170C= (p.Gly390=) c.457C= c.*782-22352G= (n.*782-22352G=) c.1239C= (p.Gly413=) c.1179C= (p.Gly393=) c.1110C= (p.Gly370=) c.1029C= (p.Gly343=) c.*1+27439G= (n.*1+27439G=) c.1131C= (p.Gly377=) c.1062C= (p.Gly354=) n.1478+23913G= | |
9 | g.4576740C>G | CA463728699 | SLC1A1,SPATA6L | c.1170C>G (p.Gly390=) c.457C>G c.*782-22352G>C (n.*782-22352G>C) c.1239C>G (p.Gly413=) c.1179C>G (p.Gly393=) c.1110C>G (p.Gly370=) c.1029C>G (p.Gly343=) c.*1+27439G>C (n.*1+27439G>C) c.1131C>G (p.Gly377=) c.1062C>G (p.Gly354=) n.1478+23913G>C | gnomAD v4 |
9 | g.4576740C>T | CA463728702 | SLC1A1,SPATA6L | c.1170C>T (p.Gly390=) c.457C>T c.*782-22352G>A (n.*782-22352G>A) c.1239C>T (p.Gly413=) c.1179C>T (p.Gly393=) c.1110C>T (p.Gly370=) c.1029C>T (p.Gly343=) c.*1+27439G>A (n.*1+27439G>A) c.1131C>T (p.Gly377=) c.1062C>T (p.Gly354=) n.1478+23913G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576741A>C | CA372818907 | SLC1A1,SPATA6L | c.1171A>C (p.Ile391Leu) c.458A>C c.*782-22353T>G (n.*782-22353T>G) c.1240A>C (p.Ile414Leu) c.1180A>C (p.Ile394Leu) c.1111A>C (p.Ile371Leu) c.1030A>C (p.Ile344Leu) c.*1+27438T>G (n.*1+27438T>G) c.1132A>C (p.Ile378Leu) c.1063A>C (p.Ile355Leu) n.1478+23912T>G | |
9 | g.4576741A>G | CA372818909 | SLC1A1,SPATA6L | c.1171A>G (p.Ile391Val) c.458A>G c.*782-22353T>C (n.*782-22353T>C) c.1240A>G (p.Ile414Val) c.1180A>G (p.Ile394Val) c.1111A>G (p.Ile371Val) c.1030A>G (p.Ile344Val) c.*1+27438T>C (n.*1+27438T>C) c.1132A>G (p.Ile378Val) c.1063A>G (p.Ile355Val) n.1478+23912T>C | |
9 | g.4576741A>T | CA372818912 | SLC1A1,SPATA6L | c.1171A>T (p.Ile391Phe) c.458A>T c.*782-22353T>A (n.*782-22353T>A) c.1240A>T (p.Ile414Phe) c.1180A>T (p.Ile394Phe) c.1111A>T (p.Ile371Phe) c.1030A>T (p.Ile344Phe) c.*1+27438T>A (n.*1+27438T>A) c.1132A>T (p.Ile378Phe) c.1063A>T (p.Ile355Phe) n.1478+23912T>A | |
9 | g.4576742T>A | CA372818916 | SLC1A1,SPATA6L | c.1172T>A (p.Ile391Asn) c.459T>A c.*782-22354A>T (n.*782-22354A>T) c.1241T>A (p.Ile414Asn) c.1181T>A (p.Ile394Asn) c.1112T>A (p.Ile371Asn) c.1031T>A (p.Ile344Asn) c.*1+27437A>T (n.*1+27437A>T) c.1133T>A (p.Ile378Asn) c.1064T>A (p.Ile355Asn) n.1478+23911A>T | |
9 | g.4576742T>C | CA4969248 | SLC1A1,SPATA6L | c.1172T>C (p.Ile391Thr) c.459T>C c.*782-22354A>G (n.*782-22354A>G) c.1241T>C (p.Ile414Thr) c.1181T>C (p.Ile394Thr) c.1112T>C (p.Ile371Thr) c.1031T>C (p.Ile344Thr) c.*1+27437A>G (n.*1+27437A>G) c.1133T>C (p.Ile378Thr) c.1064T>C (p.Ile355Thr) n.1478+23911A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576742T>G | CA372818915 | SLC1A1,SPATA6L | c.1172T>G (p.Ile391Ser) c.459T>G c.*782-22354A>C (n.*782-22354A>C) c.1241T>G (p.Ile414Ser) c.1181T>G (p.Ile394Ser) c.1112T>G (p.Ile371Ser) c.1031T>G (p.Ile344Ser) c.*1+27437A>C (n.*1+27437A>C) c.1133T>G (p.Ile378Ser) c.1064T>G (p.Ile355Ser) n.1478+23911A>C | |
9 | g.4576742T= | CA1829385680 | SLC1A1,SPATA6L | c.1172T= (p.Ile391=) c.459T= c.*782-22354A= (n.*782-22354A=) c.1241T= (p.Ile414=) c.1181T= (p.Ile394=) c.1112T= (p.Ile371=) c.1031T= (p.Ile344=) c.*1+27437A= (n.*1+27437A=) c.1133T= (p.Ile378=) c.1064T= (p.Ile355=) n.1478+23911A= | |
9 | g.4576743T>A | CA463728710 | SLC1A1,SPATA6L | c.1173T>A (p.Ile391=) c.460T>A c.*782-22355A>T (n.*782-22355A>T) c.1242T>A (p.Ile414=) c.1182T>A (p.Ile394=) c.1113T>A (p.Ile371=) c.1032T>A (p.Ile344=) c.*1+27436A>T (n.*1+27436A>T) c.1134T>A (p.Ile378=) c.1065T>A (p.Ile355=) n.1478+23910A>T | |
9 | g.4576743T>C | CA463728712 | SLC1A1,SPATA6L | c.1173T>C (p.Ile391=) c.460T>C c.*782-22355A>G (n.*782-22355A>G) c.1242T>C (p.Ile414=) c.1182T>C (p.Ile394=) c.1113T>C (p.Ile371=) c.1032T>C (p.Ile344=) c.*1+27436A>G (n.*1+27436A>G) c.1134T>C (p.Ile378=) c.1065T>C (p.Ile355=) n.1478+23910A>G | |
9 | g.4576743T>G | CA372818917 | SLC1A1,SPATA6L | c.1173T>G (p.Ile391Met) c.460T>G c.*782-22355A>C (n.*782-22355A>C) c.1242T>G (p.Ile414Met) c.1182T>G (p.Ile394Met) c.1113T>G (p.Ile371Met) c.1032T>G (p.Ile344Met) c.*1+27436A>C (n.*1+27436A>C) c.1134T>G (p.Ile378Met) c.1065T>G (p.Ile355Met) n.1478+23910A>C | |
9 | g.4576744G>A | CA4969249 | SLC1A1,SPATA6L | c.1174G>A (p.Gly392Arg) c.461G>A c.*782-22356C>T (n.*782-22356C>T) c.1243G>A (p.Gly415Arg) c.1183G>A (p.Gly395Arg) c.1114G>A (p.Gly372Arg) c.1033G>A (p.Gly345Arg) c.*1+27435C>T (n.*1+27435C>T) c.1135G>A (p.Gly379Arg) c.1066G>A (p.Gly356Arg) n.1478+23909C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.4576744G>C | CA372818927 | SLC1A1,SPATA6L | c.1174G>C (p.Gly392Arg) c.461G>C c.*782-22356C>G (n.*782-22356C>G) c.1243G>C (p.Gly415Arg) c.1183G>C (p.Gly395Arg) c.1114G>C (p.Gly372Arg) c.1033G>C (p.Gly345Arg) c.*1+27435C>G (n.*1+27435C>G) c.1135G>C (p.Gly379Arg) c.1066G>C (p.Gly356Arg) n.1478+23909C>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.4576744G= | CA1829385684 | SLC1A1,SPATA6L | c.1174G= (p.Gly392=) c.461G= c.*782-22356C= (n.*782-22356C=) c.1243G= (p.Gly415=) c.1183G= (p.Gly395=) c.1114G= (p.Gly372=) c.1033G= (p.Gly345=) c.*1+27435C= (n.*1+27435C=) c.1135G= (p.Gly379=) c.1066G= (p.Gly356=) n.1478+23909C= | |
9 | g.4576744G>T | CA188359107 | SLC1A1,SPATA6L | c.1174G>T (p.Gly392Trp) c.461G>T c.*782-22356C>A (n.*782-22356C>A) c.1243G>T (p.Gly415Trp) c.1183G>T (p.Gly395Trp) c.1114G>T (p.Gly372Trp) c.1033G>T (p.Gly345Trp) c.*1+27435C>A (n.*1+27435C>A) c.1135G>T (p.Gly379Trp) c.1066G>T (p.Gly356Trp) n.1478+23909C>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.4576745G>A | CA372818928 | SLC1A1,SPATA6L | c.1175G>A (p.Gly392Glu) c.462G>A c.*782-22357C>T (n.*782-22357C>T) c.1244G>A (p.Gly415Glu) c.1184G>A (p.Gly395Glu) c.1115G>A (p.Gly372Glu) c.1034G>A (p.Gly345Glu) c.*1+27434C>T (n.*1+27434C>T) c.1136G>A (p.Gly379Glu) c.1067G>A (p.Gly356Glu) n.1478+23908C>T | |
9 | g.4576745G>C | CA372818930 | SLC1A1,SPATA6L | c.1175G>C (p.Gly392Ala) c.462G>C c.*782-22357C>G (n.*782-22357C>G) c.1244G>C (p.Gly415Ala) c.1184G>C (p.Gly395Ala) c.1115G>C (p.Gly372Ala) c.1034G>C (p.Gly345Ala) c.*1+27434C>G (n.*1+27434C>G) c.1136G>C (p.Gly379Ala) c.1067G>C (p.Gly356Ala) n.1478+23908C>G | |
9 | g.4576745G>T | CA372818933 | SLC1A1,SPATA6L | c.1175G>T (p.Gly392Val) c.462G>T c.*782-22357C>A (n.*782-22357C>A) c.1244G>T (p.Gly415Val) c.1184G>T (p.Gly395Val) c.1115G>T (p.Gly372Val) c.1034G>T (p.Gly345Val) c.*1+27434C>A (n.*1+27434C>A) c.1136G>T (p.Gly379Val) c.1067G>T (p.Gly356Val) n.1478+23908C>A | |
9 | g.4576746G>A | CA4969250 | SLC1A1,SPATA6L | c.1176G>A (p.Gly392=) c.463G>A c.*782-22358C>T (n.*782-22358C>T) c.1245G>A (p.Gly415=) c.1185G>A (p.Gly395=) c.1116G>A (p.Gly372=) c.1035G>A (p.Gly345=) c.*1+27433C>T (n.*1+27433C>T) c.1137G>A (p.Gly379=) c.1068G>A (p.Gly356=) n.1478+23907C>T | dbSNP ExAC |
9 | g.4576746G>C | CA463728725 | SLC1A1,SPATA6L | c.1176G>C (p.Gly392=) c.463G>C c.*782-22358C>G (n.*782-22358C>G) c.1245G>C (p.Gly415=) c.1185G>C (p.Gly395=) c.1116G>C (p.Gly372=) c.1035G>C (p.Gly345=) c.*1+27433C>G (n.*1+27433C>G) c.1137G>C (p.Gly379=) c.1068G>C (p.Gly356=) n.1478+23907C>G | |
9 | g.4576746G= | CA1829385687 | SLC1A1,SPATA6L | c.1176G= (p.Gly392=) c.463G= c.*782-22358C= (n.*782-22358C=) c.1245G= (p.Gly415=) c.1185G= (p.Gly395=) c.1116G= (p.Gly372=) c.1035G= (p.Gly345=) c.*1+27433C= (n.*1+27433C=) c.1137G= (p.Gly379=) c.1068G= (p.Gly356=) n.1478+23907C= | |
9 | g.4576746G>T | CA463728723 | SLC1A1,SPATA6L | c.1176G>T (p.Gly392=) c.463G>T c.*782-22358C>A (n.*782-22358C>A) c.1245G>T (p.Gly415=) c.1185G>T (p.Gly395=) c.1116G>T (p.Gly372=) c.1035G>T (p.Gly345=) c.*1+27433C>A (n.*1+27433C>A) c.1137G>T (p.Gly379=) c.1068G>T (p.Gly356=) n.1478+23907C>A | gnomAD v4 |
9 | g.4576747C>A | CA372818938 | SLC1A1,SPATA6L | c.1177C>A (p.Gln393Lys) c.464C>A c.*782-22359G>T (n.*782-22359G>T) c.1246C>A (p.Gln416Lys) c.1186C>A (p.Gln396Lys) c.1117C>A (p.Gln373Lys) c.1036C>A (p.Gln346Lys) c.*1+27432G>T (n.*1+27432G>T) c.1138C>A (p.Gln380Lys) c.1069C>A (p.Gln357Lys) n.1478+23906G>T | gnomAD v4 |
9 | g.4576747C>G | CA372818942 | SLC1A1,SPATA6L | c.1177C>G (p.Gln393Glu) c.464C>G c.*782-22359G>C (n.*782-22359G>C) c.1246C>G (p.Gln416Glu) c.1186C>G (p.Gln396Glu) c.1117C>G (p.Gln373Glu) c.1036C>G (p.Gln346Glu) c.*1+27432G>C (n.*1+27432G>C) c.1138C>G (p.Gln380Glu) c.1069C>G (p.Gln357Glu) n.1478+23906G>C | |
9 | g.4576747C>T | CA372818945 | SLC1A1,SPATA6L | c.1177C>T (p.Gln393Ter) c.464C>T c.*782-22359G>A (n.*782-22359G>A) c.1246C>T (p.Gln416Ter) c.1186C>T (p.Gln396Ter) c.1117C>T (p.Gln373Ter) c.1036C>T (p.Gln346Ter) c.*1+27432G>A (n.*1+27432G>A) c.1138C>T (p.Gln380Ter) c.1069C>T (p.Gln357Ter) n.1478+23906G>A | |
9 | g.4576748A>C | CA372818948 | SLC1A1,SPATA6L | c.1178A>C (p.Gln393Pro) c.465A>C c.*782-22360T>G (n.*782-22360T>G) c.1247A>C (p.Gln416Pro) c.1187A>C (p.Gln396Pro) c.1118A>C (p.Gln373Pro) c.1037A>C (p.Gln346Pro) c.*1+27431T>G (n.*1+27431T>G) c.1139A>C (p.Gln380Pro) c.1070A>C (p.Gln357Pro) n.1478+23905T>G | |
9 | g.4576748A>G | CA372818949 | SLC1A1,SPATA6L | c.1178A>G (p.Gln393Arg) c.465A>G c.*782-22360T>C (n.*782-22360T>C) c.1247A>G (p.Gln416Arg) c.1187A>G (p.Gln396Arg) c.1118A>G (p.Gln373Arg) c.1037A>G (p.Gln346Arg) c.*1+27431T>C (n.*1+27431T>C) c.1139A>G (p.Gln380Arg) c.1070A>G (p.Gln357Arg) n.1478+23905T>C | |
9 | g.4576748A>T | CA372818950 | SLC1A1,SPATA6L | c.1178A>T (p.Gln393Leu) c.465A>T c.*782-22360T>A (n.*782-22360T>A) c.1247A>T (p.Gln416Leu) c.1187A>T (p.Gln396Leu) c.1118A>T (p.Gln373Leu) c.1037A>T (p.Gln346Leu) c.*1+27431T>A (n.*1+27431T>A) c.1139A>T (p.Gln380Leu) c.1070A>T (p.Gln357Leu) n.1478+23905T>A | |
9 | g.4576749G>A | CA463728734 | SLC1A1,SPATA6L | c.1179G>A (p.Gln393=) c.466G>A c.*782-22361C>T (n.*782-22361C>T) c.1248G>A (p.Gln416=) c.1188G>A (p.Gln396=) c.1119G>A (p.Gln373=) c.1038G>A (p.Gln346=) c.*1+27430C>T (n.*1+27430C>T) c.1140G>A (p.Gln380=) c.1071G>A (p.Gln357=) n.1478+23904C>T | |
9 | g.4576749G>C | CA372818951 | SLC1A1,SPATA6L | c.1179G>C (p.Gln393His) c.466G>C c.*782-22361C>G (n.*782-22361C>G) c.1248G>C (p.Gln416His) c.1188G>C (p.Gln396His) c.1119G>C (p.Gln373His) c.1038G>C (p.Gln346His) c.*1+27430C>G (n.*1+27430C>G) c.1140G>C (p.Gln380His) c.1071G>C (p.Gln357His) n.1478+23904C>G | |
9 | g.4576749G>T | CA372818952 | SLC1A1,SPATA6L | c.1179G>T (p.Gln393His) c.466G>T c.*782-22361C>A (n.*782-22361C>A) c.1248G>T (p.Gln416His) c.1188G>T (p.Gln396His) c.1119G>T (p.Gln373His) c.1038G>T (p.Gln346His) c.*1+27430C>A (n.*1+27430C>A) c.1140G>T (p.Gln380His) c.1071G>T (p.Gln357His) n.1478+23904C>A | |
9 | g.4576749_4576752delinsGATC | CA1829385689 | SLC1A1,SPATA6L | c.1179_1182delinsGATC (p.Gln393=) c.466_469delinsGATC c.*782-22364_*782-22361delinsGATC (n.*782-22364_*782-22361delinsGATC) c.1248_1251delinsGATC (p.Gln416=) c.1188_1191delinsGATC (p.Gln396=) c.1119_1122delinsGATC (p.Gln373=) c.1038_1041delinsGATC (p.Gln346=) c.*1+27427_*1+27430delinsGATC (n.*1+27427_*1+27430delinsGATC) c.1140_1143delinsGATC (p.Gln380=) c.1071_1074delinsGATC (p.Gln357=) n.1478+23901_1478+23904delinsGATC | |
9 | g.4576750A>C | CA372818959 | SLC1A1,SPATA6L | c.1180A>C (p.Ile394Leu) c.467A>C c.*782-22362T>G (n.*782-22362T>G) c.1249A>C (p.Ile417Leu) c.1189A>C (p.Ile397Leu) c.1120A>C (p.Ile374Leu) c.1039A>C (p.Ile347Leu) c.*1+27429T>G (n.*1+27429T>G) c.1141A>C (p.Ile381Leu) c.1072A>C (p.Ile358Leu) n.1478+23903T>G | |
9 | g.4576750A>G | CA372818962 | SLC1A1,SPATA6L | c.1180A>G (p.Ile394Val) c.467A>G c.*782-22362T>C (n.*782-22362T>C) c.1249A>G (p.Ile417Val) c.1189A>G (p.Ile397Val) c.1120A>G (p.Ile374Val) c.1039A>G (p.Ile347Val) c.*1+27429T>C (n.*1+27429T>C) c.1141A>G (p.Ile381Val) c.1072A>G (p.Ile358Val) n.1478+23903T>C | |
9 | g.4576750A>T | CA372818963 | SLC1A1,SPATA6L | c.1180A>T (p.Ile394Phe) c.467A>T c.*782-22362T>A (n.*782-22362T>A) c.1249A>T (p.Ile417Phe) c.1189A>T (p.Ile397Phe) c.1120A>T (p.Ile374Phe) c.1039A>T (p.Ile347Phe) c.*1+27429T>A (n.*1+27429T>A) c.1141A>T (p.Ile381Phe) c.1072A>T (p.Ile358Phe) n.1478+23903T>A | |
9 | g.4576754_4576756del | CA170709 | SLC1A1,SPATA6L | c.1184_1186del (p.Ile395del) c.471_473del c.*782-22364_*782-22362del (n.*782-22364_*782-22362del) c.1253_1255del (p.Ile418del) c.1193_1195del (p.Ile398del) c.1124_1126del (p.Ile375del) c.1043_1045del (p.Ile348del) c.*1+27427_*1+27429del (n.*1+27427_*1+27429del) c.1145_1147del (p.Ile382del) c.1076_1078del (p.Ile359del) n.1478+23901_1478+23903del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576751T>A | CA372818972 | SLC1A1,SPATA6L | c.1181T>A (p.Ile394Asn) c.468T>A c.*782-22363A>T (n.*782-22363A>T) c.1250T>A (p.Ile417Asn) c.1190T>A (p.Ile397Asn) c.1121T>A (p.Ile374Asn) c.1040T>A (p.Ile347Asn) c.*1+27428A>T (n.*1+27428A>T) c.1142T>A (p.Ile381Asn) c.1073T>A (p.Ile358Asn) n.1478+23902A>T | |
9 | g.4576751T>C | CA372818975 | SLC1A1,SPATA6L | c.1181T>C (p.Ile394Thr) c.468T>C c.*782-22363A>G (n.*782-22363A>G) c.1250T>C (p.Ile417Thr) c.1190T>C (p.Ile397Thr) c.1121T>C (p.Ile374Thr) c.1040T>C (p.Ile347Thr) c.*1+27428A>G (n.*1+27428A>G) c.1142T>C (p.Ile381Thr) c.1073T>C (p.Ile358Thr) n.1478+23902A>G | dbSNP |
9 | g.4576751T>G | CA372818977 | SLC1A1,SPATA6L | c.1181T>G (p.Ile394Ser) c.468T>G c.*782-22363A>C (n.*782-22363A>C) c.1250T>G (p.Ile417Ser) c.1190T>G (p.Ile397Ser) c.1121T>G (p.Ile374Ser) c.1040T>G (p.Ile347Ser) c.*1+27428A>C (n.*1+27428A>C) c.1142T>G (p.Ile381Ser) c.1073T>G (p.Ile358Ser) n.1478+23902A>C | |
9 | g.4576751T= | CA1829385698 | SLC1A1,SPATA6L | c.1181T= (p.Ile394=) c.468T= c.*782-22363A= (n.*782-22363A=) c.1250T= (p.Ile417=) c.1190T= (p.Ile397=) c.1121T= (p.Ile374=) c.1040T= (p.Ile347=) c.*1+27428A= (n.*1+27428A=) c.1142T= (p.Ile381=) c.1073T= (p.Ile358=) n.1478+23902A= | |
9 | g.4576752C>A | CA463728991 | SLC1A1,SPATA6L | c.1182C>A (p.Ile394=) c.469C>A c.*782-22364G>T (n.*782-22364G>T) c.1251C>A (p.Ile417=) c.1191C>A (p.Ile397=) c.1122C>A (p.Ile374=) c.1041C>A (p.Ile347=) c.*1+27427G>T (n.*1+27427G>T) c.1143C>A (p.Ile381=) c.1074C>A (p.Ile358=) n.1478+23901G>T | |
9 | g.4576752C>G | CA372818981 | SLC1A1,SPATA6L | c.1182C>G (p.Ile394Met) c.469C>G c.*782-22364G>C (n.*782-22364G>C) c.1251C>G (p.Ile417Met) c.1191C>G (p.Ile397Met) c.1122C>G (p.Ile374Met) c.1041C>G (p.Ile347Met) c.*1+27427G>C (n.*1+27427G>C) c.1143C>G (p.Ile381Met) c.1074C>G (p.Ile358Met) n.1478+23901G>C | |
9 | g.4576752C>T | CA463728994 | SLC1A1,SPATA6L | c.1182C>T (p.Ile394=) c.469C>T c.*782-22364G>A (n.*782-22364G>A) c.1251C>T (p.Ile417=) c.1191C>T (p.Ile397=) c.1122C>T (p.Ile374=) c.1041C>T (p.Ile347=) c.*1+27427G>A (n.*1+27427G>A) c.1143C>T (p.Ile381=) c.1074C>T (p.Ile358=) n.1478+23901G>A | |
9 | g.4576753A>C | CA372818988 | SLC1A1,SPATA6L | c.1183A>C (p.Ile395Leu) c.470A>C c.*782-22365T>G (n.*782-22365T>G) c.1252A>C (p.Ile418Leu) c.1192A>C (p.Ile398Leu) c.1123A>C (p.Ile375Leu) c.1042A>C (p.Ile348Leu) c.*1+27426T>G (n.*1+27426T>G) c.1144A>C (p.Ile382Leu) c.1075A>C (p.Ile359Leu) n.1478+23900T>G | gnomAD v4 |
9 | g.4576753A>G | CA372818990 | SLC1A1,SPATA6L | c.1183A>G (p.Ile395Val) c.470A>G c.*782-22365T>C (n.*782-22365T>C) c.1252A>G (p.Ile418Val) c.1192A>G (p.Ile398Val) c.1123A>G (p.Ile375Val) c.1042A>G (p.Ile348Val) c.*1+27426T>C (n.*1+27426T>C) c.1144A>G (p.Ile382Val) c.1075A>G (p.Ile359Val) n.1478+23900T>C | |
9 | g.4576753A>T | CA372818995 | SLC1A1,SPATA6L | c.1183A>T (p.Ile395Phe) c.470A>T c.*782-22365T>A (n.*782-22365T>A) c.1252A>T (p.Ile418Phe) c.1192A>T (p.Ile398Phe) c.1123A>T (p.Ile375Phe) c.1042A>T (p.Ile348Phe) c.*1+27426T>A (n.*1+27426T>A) c.1144A>T (p.Ile382Phe) c.1075A>T (p.Ile359Phe) n.1478+23900T>A | |
9 | g.4576754T>A | CA372818998 | SLC1A1,SPATA6L | c.1184T>A (p.Ile395Asn) c.471T>A c.*782-22366A>T (n.*782-22366A>T) c.1253T>A (p.Ile418Asn) c.1193T>A (p.Ile398Asn) c.1124T>A (p.Ile375Asn) c.1043T>A (p.Ile348Asn) c.*1+27425A>T (n.*1+27425A>T) c.1145T>A (p.Ile382Asn) c.1076T>A (p.Ile359Asn) n.1478+23899A>T | |
9 | g.4576754T>C | CA372818999 | SLC1A1,SPATA6L | c.1184T>C (p.Ile395Thr) c.471T>C c.*782-22366A>G (n.*782-22366A>G) c.1253T>C (p.Ile418Thr) c.1193T>C (p.Ile398Thr) c.1124T>C (p.Ile375Thr) c.1043T>C (p.Ile348Thr) c.*1+27425A>G (n.*1+27425A>G) c.1145T>C (p.Ile382Thr) c.1076T>C (p.Ile359Thr) n.1478+23899A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.4576754T>G | CA372819003 | SLC1A1,SPATA6L | c.1184T>G (p.Ile395Ser) c.471T>G c.*782-22366A>C (n.*782-22366A>C) c.1253T>G (p.Ile418Ser) c.1193T>G (p.Ile398Ser) c.1124T>G (p.Ile375Ser) c.1043T>G (p.Ile348Ser) c.*1+27425A>C (n.*1+27425A>C) c.1145T>G (p.Ile382Ser) c.1076T>G (p.Ile359Ser) n.1478+23899A>C | |
9 | g.4576754T= | CA1829385700 | SLC1A1,SPATA6L | c.1184T= (p.Ile395=) c.471T= c.*782-22366A= (n.*782-22366A=) c.1253T= (p.Ile418=) c.1193T= (p.Ile398=) c.1124T= (p.Ile375=) c.1043T= (p.Ile348=) c.*1+27425A= (n.*1+27425A=) c.1145T= (p.Ile382=) c.1076T= (p.Ile359=) n.1478+23899A= | |
9 | g.4576755C>A | CA463729000 | SLC1A1,SPATA6L | c.1185C>A (p.Ile395=) c.472C>A c.*782-22367G>T (n.*782-22367G>T) c.1254C>A (p.Ile418=) c.1194C>A (p.Ile398=) c.1125C>A (p.Ile375=) c.1044C>A (p.Ile348=) c.*1+27424G>T (n.*1+27424G>T) c.1146C>A (p.Ile382=) c.1077C>A (p.Ile359=) n.1478+23898G>T | |
9 | g.4576755C>G | CA372819005 | SLC1A1,SPATA6L | c.1185C>G (p.Ile395Met) c.472C>G c.*782-22367G>C (n.*782-22367G>C) c.1254C>G (p.Ile418Met) c.1194C>G (p.Ile398Met) c.1125C>G (p.Ile375Met) c.1044C>G (p.Ile348Met) c.*1+27424G>C (n.*1+27424G>C) c.1146C>G (p.Ile382Met) c.1077C>G (p.Ile359Met) n.1478+23898G>C | gnomAD v4 |
9 | g.4576755C>T | CA463729001 | SLC1A1,SPATA6L | c.1185C>T (p.Ile395=) c.472C>T c.*782-22367G>A (n.*782-22367G>A) c.1254C>T (p.Ile418=) c.1194C>T (p.Ile398=) c.1125C>T (p.Ile375=) c.1044C>T (p.Ile348=) c.*1+27424G>A (n.*1+27424G>A) c.1146C>T (p.Ile382=) c.1077C>T (p.Ile359=) n.1478+23898G>A | COSMIC |
9 | g.4576756A= | CA1829385703 | SLC1A1,SPATA6L | c.1186A= (p.Thr396=) c.473A= c.*782-22368T= (n.*782-22368T=) c.1255A= (p.Thr419=) c.1195A= (p.Thr399=) c.1126A= (p.Thr376=) c.1045A= (p.Thr349=) c.*1+27423T= (n.*1+27423T=) c.1147A= (p.Thr383=) c.1078A= (p.Thr360=) n.1478+23897T= | |
9 | g.4576756A>C | CA372819009 | SLC1A1,SPATA6L | c.1186A>C (p.Thr396Pro) c.473A>C c.*782-22368T>G (n.*782-22368T>G) c.1255A>C (p.Thr419Pro) c.1195A>C (p.Thr399Pro) c.1126A>C (p.Thr376Pro) c.1045A>C (p.Thr349Pro) c.*1+27423T>G (n.*1+27423T>G) c.1147A>C (p.Thr383Pro) c.1078A>C (p.Thr360Pro) n.1478+23897T>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.4576756A>G | CA372819013 | SLC1A1,SPATA6L | c.1186A>G (p.Thr396Ala) c.473A>G c.*782-22368T>C (n.*782-22368T>C) c.1255A>G (p.Thr419Ala) c.1195A>G (p.Thr399Ala) c.1126A>G (p.Thr376Ala) c.1045A>G (p.Thr349Ala) c.*1+27423T>C (n.*1+27423T>C) c.1147A>G (p.Thr383Ala) c.1078A>G (p.Thr360Ala) n.1478+23897T>C | COSMIC |
9 | g.4576756A>T | CA372819011 | SLC1A1,SPATA6L | c.1186A>T (p.Thr396Ser) c.473A>T c.*782-22368T>A (n.*782-22368T>A) c.1255A>T (p.Thr419Ser) c.1195A>T (p.Thr399Ser) c.1126A>T (p.Thr376Ser) c.1045A>T (p.Thr349Ser) c.*1+27423T>A (n.*1+27423T>A) c.1147A>T (p.Thr383Ser) c.1078A>T (p.Thr360Ser) n.1478+23897T>A | |
9 | g.4576757C>A | CA372819020 | SLC1A1,SPATA6L | c.1187C>A (p.Thr396Asn) c.474C>A c.*782-22369G>T (n.*782-22369G>T) c.1256C>A (p.Thr419Asn) c.1196C>A (p.Thr399Asn) c.1127C>A (p.Thr376Asn) c.1046C>A (p.Thr349Asn) c.*1+27422G>T (n.*1+27422G>T) c.1148C>A (p.Thr383Asn) c.1079C>A (p.Thr360Asn) n.1478+23896G>T | |
9 | g.4576757C>G | CA372819021 | SLC1A1,SPATA6L | c.1187C>G (p.Thr396Ser) c.474C>G c.*782-22369G>C (n.*782-22369G>C) c.1256C>G (p.Thr419Ser) c.1196C>G (p.Thr399Ser) c.1127C>G (p.Thr376Ser) c.1046C>G (p.Thr349Ser) c.*1+27422G>C (n.*1+27422G>C) c.1148C>G (p.Thr383Ser) c.1079C>G (p.Thr360Ser) n.1478+23896G>C | |
9 | g.4576757C>T | CA372819029 | SLC1A1,SPATA6L | c.1187C>T (p.Thr396Ile) c.474C>T c.*782-22369G>A (n.*782-22369G>A) c.1256C>T (p.Thr419Ile) c.1196C>T (p.Thr399Ile) c.1127C>T (p.Thr376Ile) c.1046C>T (p.Thr349Ile) c.*1+27422G>A (n.*1+27422G>A) c.1148C>T (p.Thr383Ile) c.1079C>T (p.Thr360Ile) n.1478+23896G>A | gnomAD v4 |
9 | g.4576758C>A | CA463729011 | SLC1A1,SPATA6L | c.1188C>A (p.Thr396=) c.475C>A c.*782-22370G>T (n.*782-22370G>T) c.1257C>A (p.Thr419=) c.1197C>A (p.Thr399=) c.1128C>A (p.Thr376=) c.1047C>A (p.Thr349=) c.*1+27421G>T (n.*1+27421G>T) c.1149C>A (p.Thr383=) c.1080C>A (p.Thr360=) n.1478+23895G>T | |
9 | g.4576758C>G | CA463729013 | SLC1A1,SPATA6L | c.1188C>G (p.Thr396=) c.475C>G c.*782-22370G>C (n.*782-22370G>C) c.1257C>G (p.Thr419=) c.1197C>G (p.Thr399=) c.1128C>G (p.Thr376=) c.1047C>G (p.Thr349=) c.*1+27421G>C (n.*1+27421G>C) c.1149C>G (p.Thr383=) c.1080C>G (p.Thr360=) n.1478+23895G>C | |
9 | g.4576758C>T | CA463729015 | SLC1A1,SPATA6L | c.1188C>T (p.Thr396=) c.475C>T c.*782-22370G>A (n.*782-22370G>A) c.1257C>T (p.Thr419=) c.1197C>T (p.Thr399=) c.1128C>T (p.Thr376=) c.1047C>T (p.Thr349=) c.*1+27421G>A (n.*1+27421G>A) c.1149C>T (p.Thr383=) c.1080C>T (p.Thr360=) n.1478+23895G>A | |
9 | g.4576759A= | CA1829385707 | SLC1A1,SPATA6L | c.1189A= (p.Ile397=) c.476A= c.*782-22371T= (n.*782-22371T=) c.1258A= (p.Ile420=) c.1198A= (p.Ile400=) c.1129A= (p.Ile377=) c.1048A= (p.Ile350=) c.*1+27420T= (n.*1+27420T=) c.1150A= (p.Ile384=) c.1081A= (p.Ile361=) n.1478+23894T= | |
9 | g.4576759A>C | CA4969251 | SLC1A1,SPATA6L | c.1189A>C (p.Ile397Leu) c.476A>C c.*782-22371T>G (n.*782-22371T>G) c.1258A>C (p.Ile420Leu) c.1198A>C (p.Ile400Leu) c.1129A>C (p.Ile377Leu) c.1048A>C (p.Ile350Leu) c.*1+27420T>G (n.*1+27420T>G) c.1150A>C (p.Ile384Leu) c.1081A>C (p.Ile361Leu) n.1478+23894T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576759A>G | CA372819042 | SLC1A1,SPATA6L | c.1189A>G (p.Ile397Val) c.476A>G c.*782-22371T>C (n.*782-22371T>C) c.1258A>G (p.Ile420Val) c.1198A>G (p.Ile400Val) c.1129A>G (p.Ile377Val) c.1048A>G (p.Ile350Val) c.*1+27420T>C (n.*1+27420T>C) c.1150A>G (p.Ile384Val) c.1081A>G (p.Ile361Val) n.1478+23894T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.4576759A>T | CA372819045 | SLC1A1,SPATA6L | c.1189A>T (p.Ile397Phe) c.476A>T c.*782-22371T>A (n.*782-22371T>A) c.1258A>T (p.Ile420Phe) c.1198A>T (p.Ile400Phe) c.1129A>T (p.Ile377Phe) c.1048A>T (p.Ile350Phe) c.*1+27420T>A (n.*1+27420T>A) c.1150A>T (p.Ile384Phe) c.1081A>T (p.Ile361Phe) n.1478+23894T>A | |
9 | g.4576760T>A | CA372819046 | SLC1A1,SPATA6L | c.1190T>A (p.Ile397Asn) c.477T>A c.*782-22372A>T (n.*782-22372A>T) c.1259T>A (p.Ile420Asn) c.1199T>A (p.Ile400Asn) c.1130T>A (p.Ile377Asn) c.1049T>A (p.Ile350Asn) c.*1+27419A>T (n.*1+27419A>T) c.1151T>A (p.Ile384Asn) c.1082T>A (p.Ile361Asn) n.1478+23893A>T | |
9 | g.4576760T>C | CA4969252 | SLC1A1,SPATA6L | c.1190T>C (p.Ile397Thr) c.477T>C c.*782-22372A>G (n.*782-22372A>G) c.1259T>C (p.Ile420Thr) c.1199T>C (p.Ile400Thr) c.1130T>C (p.Ile377Thr) c.1049T>C (p.Ile350Thr) c.*1+27419A>G (n.*1+27419A>G) c.1151T>C (p.Ile384Thr) c.1082T>C (p.Ile361Thr) n.1478+23893A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.4576760T>G | CA372819047 | SLC1A1,SPATA6L | c.1190T>G (p.Ile397Ser) c.477T>G c.*782-22372A>C (n.*782-22372A>C) c.1259T>G (p.Ile420Ser) c.1199T>G (p.Ile400Ser) c.1130T>G (p.Ile377Ser) c.1049T>G (p.Ile350Ser) c.*1+27419A>C (n.*1+27419A>C) c.1151T>G (p.Ile384Ser) c.1082T>G (p.Ile361Ser) n.1478+23893A>C | |
9 | g.4576760T= | CA1829385710 | SLC1A1,SPATA6L | c.1190T= (p.Ile397=) c.477T= c.*782-22372A= (n.*782-22372A=) c.1259T= (p.Ile420=) c.1199T= (p.Ile400=) c.1130T= (p.Ile377=) c.1049T= (p.Ile350=) c.*1+27419A= (n.*1+27419A=) c.1151T= (p.Ile384=) c.1082T= (p.Ile361=) n.1478+23893A= | |
9 | g.4576761C>A | CA463729025 | SLC1A1,SPATA6L | c.1191C>A (p.Ile397=) c.478C>A c.*782-22373G>T (n.*782-22373G>T) c.1260C>A (p.Ile420=) c.1200C>A (p.Ile400=) c.1131C>A (p.Ile377=) c.1050C>A (p.Ile350=) c.*1+27418G>T (n.*1+27418G>T) c.1152C>A (p.Ile384=) c.1083C>A (p.Ile361=) n.1478+23892G>T | |
9 | g.4576761C= | CA1829385714 | SLC1A1,SPATA6L | c.1191C= (p.Ile397=) c.478C= c.*782-22373G= (n.*782-22373G=) c.1260C= (p.Ile420=) c.1200C= (p.Ile400=) c.1131C= (p.Ile377=) c.1050C= (p.Ile350=) c.*1+27418G= (n.*1+27418G=) c.1152C= (p.Ile384=) c.1083C= (p.Ile361=) n.1478+23892G= | |
9 | g.4576761C>G | CA372819048 | SLC1A1,SPATA6L | c.1191C>G (p.Ile397Met) c.478C>G c.*782-22373G>C (n.*782-22373G>C) c.1260C>G (p.Ile420Met) c.1200C>G (p.Ile400Met) c.1131C>G (p.Ile377Met) c.1050C>G (p.Ile350Met) c.*1+27418G>C (n.*1+27418G>C) c.1152C>G (p.Ile384Met) c.1083C>G (p.Ile361Met) n.1478+23892G>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.4576761C>T | CA463729028 | SLC1A1,SPATA6L | c.1191C>T (p.Ile397=) c.478C>T c.*782-22373G>A (n.*782-22373G>A) c.1260C>T (p.Ile420=) c.1200C>T (p.Ile400=) c.1131C>T (p.Ile377=) c.1050C>T (p.Ile350=) c.*1+27418G>A (n.*1+27418G>A) c.1152C>T (p.Ile384=) c.1083C>T (p.Ile361=) n.1478+23892G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576762A>C | CA372819053 | SLC1A1,SPATA6L | c.1192A>C (p.Ser398Arg) c.479A>C c.*782-22374T>G (n.*782-22374T>G) c.1261A>C (p.Ser421Arg) c.1201A>C (p.Ser401Arg) c.1132A>C (p.Ser378Arg) c.1051A>C (p.Ser351Arg) c.*1+27417T>G (n.*1+27417T>G) c.1153A>C (p.Ser385Arg) c.1084A>C (p.Ser362Arg) n.1478+23891T>G | |
9 | g.4576762A>G | CA372819056 | SLC1A1,SPATA6L | c.1192A>G (p.Ser398Gly) c.479A>G c.*782-22374T>C (n.*782-22374T>C) c.1261A>G (p.Ser421Gly) c.1201A>G (p.Ser401Gly) c.1132A>G (p.Ser378Gly) c.1051A>G (p.Ser351Gly) c.*1+27417T>C (n.*1+27417T>C) c.1153A>G (p.Ser385Gly) c.1084A>G (p.Ser362Gly) n.1478+23891T>C | |
9 | g.4576762A>T | CA372819059 | SLC1A1,SPATA6L | c.1192A>T (p.Ser398Cys) c.479A>T c.*782-22374T>A (n.*782-22374T>A) c.1261A>T (p.Ser421Cys) c.1201A>T (p.Ser401Cys) c.1132A>T (p.Ser378Cys) c.1051A>T (p.Ser351Cys) c.*1+27417T>A (n.*1+27417T>A) c.1153A>T (p.Ser385Cys) c.1084A>T (p.Ser362Cys) n.1478+23891T>A | |
9 | g.4576763G>A | CA372819061 | SLC1A1,SPATA6L | c.1193G>A (p.Ser398Asn) c.480G>A c.*782-22375C>T (n.*782-22375C>T) c.1262G>A (p.Ser421Asn) c.1202G>A (p.Ser401Asn) c.1133G>A (p.Ser378Asn) c.1052G>A (p.Ser351Asn) c.*1+27416C>T (n.*1+27416C>T) c.1154G>A (p.Ser385Asn) c.1085G>A (p.Ser362Asn) n.1478+23890C>T | |
9 | g.4576763G>C | CA372819068 | SLC1A1,SPATA6L | c.1193G>C (p.Ser398Thr) c.480G>C c.*782-22375C>G (n.*782-22375C>G) c.1262G>C (p.Ser421Thr) c.1202G>C (p.Ser401Thr) c.1133G>C (p.Ser378Thr) c.1052G>C (p.Ser351Thr) c.*1+27416C>G (n.*1+27416C>G) c.1154G>C (p.Ser385Thr) c.1085G>C (p.Ser362Thr) n.1478+23890C>G | |
9 | g.4576763G>T | CA372819064 | SLC1A1,SPATA6L | c.1193G>T (p.Ser398Ile) c.480G>T c.*782-22375C>A (n.*782-22375C>A) c.1262G>T (p.Ser421Ile) c.1202G>T (p.Ser401Ile) c.1133G>T (p.Ser378Ile) c.1052G>T (p.Ser351Ile) c.*1+27416C>A (n.*1+27416C>A) c.1154G>T (p.Ser385Ile) c.1085G>T (p.Ser362Ile) n.1478+23890C>A | |
9 | g.4576764G>A | CA372819070 | SLC1A1,SPATA6L | c.1193+1G>A (n.1193+1G>A) c.480+1G>A c.*782-22376C>T (n.*782-22376C>T) c.1262+1G>A (n.1262+1G>A) c.1202+1G>A (n.1202+1G>A) c.1133+1G>A (n.1133+1G>A) c.1052+1G>A (n.1052+1G>A) c.*1+27415C>T (n.*1+27415C>T) c.1154+1G>A (n.1154+1G>A) c.1085+1G>A (n.1085+1G>A) n.1478+23889C>T | |
9 | g.4576764G>C | CA372819077 | SLC1A1,SPATA6L | c.1193+1G>C (n.1193+1G>C) c.480+1G>C c.*782-22376C>G (n.*782-22376C>G) c.1262+1G>C (n.1262+1G>C) c.1202+1G>C (n.1202+1G>C) c.1133+1G>C (n.1133+1G>C) c.1052+1G>C (n.1052+1G>C) c.*1+27415C>G (n.*1+27415C>G) c.1154+1G>C (n.1154+1G>C) c.1085+1G>C (n.1085+1G>C) n.1478+23889C>G | |
9 | g.4576764G>T | CA372819079 | SLC1A1,SPATA6L | c.1193+1G>T (n.1193+1G>T) c.480+1G>T c.*782-22376C>A (n.*782-22376C>A) c.1262+1G>T (n.1262+1G>T) c.1202+1G>T (n.1202+1G>T) c.1133+1G>T (n.1133+1G>T) c.1052+1G>T (n.1052+1G>T) c.*1+27415C>A (n.*1+27415C>A) c.1154+1G>T (n.1154+1G>T) c.1085+1G>T (n.1085+1G>T) n.1478+23889C>A | |
9 | g.4576765T>A | CA372819086 | SLC1A1,SPATA6L | c.1193+2T>A (n.1193+2T>A) c.480+2T>A c.*782-22377A>T (n.*782-22377A>T) c.1262+2T>A (n.1262+2T>A) c.1202+2T>A (n.1202+2T>A) c.1133+2T>A (n.1133+2T>A) c.1052+2T>A (n.1052+2T>A) c.*1+27414A>T (n.*1+27414A>T) c.1154+2T>A (n.1154+2T>A) c.1085+2T>A (n.1085+2T>A) n.1478+23888A>T | |
9 | g.4576765T>C | CA372819089 | SLC1A1,SPATA6L | c.1193+2T>C (n.1193+2T>C) c.480+2T>C c.*782-22377A>G (n.*782-22377A>G) c.1262+2T>C (n.1262+2T>C) c.1202+2T>C (n.1202+2T>C) c.1133+2T>C (n.1133+2T>C) c.1052+2T>C (n.1052+2T>C) c.*1+27414A>G (n.*1+27414A>G) c.1154+2T>C (n.1154+2T>C) c.1085+2T>C (n.1085+2T>C) n.1478+23888A>G | |
9 | g.4576765T>G | CA372819099 | SLC1A1,SPATA6L | c.1193+2T>G (n.1193+2T>G) c.480+2T>G c.*782-22377A>C (n.*782-22377A>C) c.1262+2T>G (n.1262+2T>G) c.1202+2T>G (n.1202+2T>G) c.1133+2T>G (n.1133+2T>G) c.1052+2T>G (n.1052+2T>G) c.*1+27414A>C (n.*1+27414A>C) c.1154+2T>G (n.1154+2T>G) c.1085+2T>G (n.1085+2T>G) n.1478+23888A>C | |
9 | g.4576768_4576769dup | CA2689285200 | SLC1A1,SPATA6L | c.1193+5_1193+6dup (n.1193+5_1193+6dup) c.480+5_480+6dup c.*782-22379_*782-22378dup (n.*782-22379_*782-22378dup) c.1262+5_1262+6dup (n.1262+5_1262+6dup) c.1202+5_1202+6dup (n.1202+5_1202+6dup) c.1133+5_1133+6dup (n.1133+5_1133+6dup) c.1052+5_1052+6dup (n.1052+5_1052+6dup) c.*1+27412_*1+27413dup (n.*1+27412_*1+27413dup) c.1154+5_1154+6dup (n.1154+5_1154+6dup) c.1085+5_1085+6dup (n.1085+5_1085+6dup) n.1478+23886_1478+23887dup | gnomAD v4 |
9 | g.4576767G>A | CA585969954 | SLC1A1,SPATA6L | c.1193+4G>A (n.1193+4G>A) c.480+4G>A c.*782-22379C>T (n.*782-22379C>T) c.1262+4G>A (n.1262+4G>A) c.1202+4G>A (n.1202+4G>A) c.1133+4G>A (n.1133+4G>A) c.1052+4G>A (n.1052+4G>A) c.*1+27412C>T (n.*1+27412C>T) c.1154+4G>A (n.1154+4G>A) c.1085+4G>A (n.1085+4G>A) n.1478+23886C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576767G= | CA1829385716 | SLC1A1,SPATA6L | c.1193+4G= (n.1193+4G=) c.480+4G= c.*782-22379C= (n.*782-22379C=) c.1262+4G= (n.1262+4G=) c.1202+4G= (n.1202+4G=) c.1133+4G= (n.1133+4G=) c.1052+4G= (n.1052+4G=) c.*1+27412C= (n.*1+27412C=) c.1154+4G= (n.1154+4G=) c.1085+4G= (n.1085+4G=) n.1478+23886C= | |
9 | g.4576768G= | CA1829385719 | SLC1A1,SPATA6L | c.1193+5G= (n.1193+5G=) c.480+5G= c.*782-22380C= (n.*782-22380C=) c.1262+5G= (n.1262+5G=) c.1202+5G= (n.1202+5G=) c.1133+5G= (n.1133+5G=) c.1052+5G= (n.1052+5G=) c.*1+27411C= (n.*1+27411C=) c.1154+5G= (n.1154+5G=) c.1085+5G= (n.1085+5G=) n.1478+23885C= | |
9 | g.4576768G>T | CA4969253 | SLC1A1,SPATA6L | c.1193+5G>T (n.1193+5G>T) c.480+5G>T c.*782-22380C>A (n.*782-22380C>A) c.1262+5G>T (n.1262+5G>T) c.1202+5G>T (n.1202+5G>T) c.1133+5G>T (n.1133+5G>T) c.1052+5G>T (n.1052+5G>T) c.*1+27411C>A (n.*1+27411C>A) c.1154+5G>T (n.1154+5G>T) c.1085+5G>T (n.1085+5G>T) n.1478+23885C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576769G>A | CA2689285201 | SLC1A1,SPATA6L | c.1193+6G>A (n.1193+6G>A) c.480+6G>A c.*782-22381C>T (n.*782-22381C>T) c.1262+6G>A (n.1262+6G>A) c.1202+6G>A (n.1202+6G>A) c.1133+6G>A (n.1133+6G>A) c.1052+6G>A (n.1052+6G>A) c.*1+27410C>T (n.*1+27410C>T) c.1154+6G>A (n.1154+6G>A) c.1085+6G>A (n.1085+6G>A) n.1478+23884C>T | gnomAD v4 |
9 | g.4576769G>C | CA4969254 | SLC1A1,SPATA6L | c.1193+6G>C (n.1193+6G>C) c.480+6G>C c.*782-22381C>G (n.*782-22381C>G) c.1262+6G>C (n.1262+6G>C) c.1202+6G>C (n.1202+6G>C) c.1133+6G>C (n.1133+6G>C) c.1052+6G>C (n.1052+6G>C) c.*1+27410C>G (n.*1+27410C>G) c.1154+6G>C (n.1154+6G>C) c.1085+6G>C (n.1085+6G>C) n.1478+23884C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.4576769G= | CA1829385721 | SLC1A1,SPATA6L | c.1193+6G= (n.1193+6G=) c.480+6G= c.*782-22381C= (n.*782-22381C=) c.1262+6G= (n.1262+6G=) c.1202+6G= (n.1202+6G=) c.1133+6G= (n.1133+6G=) c.1052+6G= (n.1052+6G=) c.*1+27410C= (n.*1+27410C=) c.1154+6G= (n.1154+6G=) c.1085+6G= (n.1085+6G=) n.1478+23884C= | |
9 | g.4576770C>A | CA2689285202 | SLC1A1,SPATA6L | c.1193+7C>A (n.1193+7C>A) c.480+7C>A c.*782-22382G>T (n.*782-22382G>T) c.1262+7C>A (n.1262+7C>A) c.1202+7C>A (n.1202+7C>A) c.1133+7C>A (n.1133+7C>A) c.1052+7C>A (n.1052+7C>A) c.*1+27409G>T (n.*1+27409G>T) c.1154+7C>A (n.1154+7C>A) c.1085+7C>A (n.1085+7C>A) n.1478+23883G>T | gnomAD v4 |
9 | g.4576772T>C | CA2689285203 | SLC1A1,SPATA6L | c.1193+9T>C (n.1193+9T>C) c.480+9T>C c.*782-22384A>G (n.*782-22384A>G) c.1262+9T>C (n.1262+9T>C) c.1202+9T>C (n.1202+9T>C) c.1133+9T>C (n.1133+9T>C) c.1052+9T>C (n.1052+9T>C) c.*1+27407A>G (n.*1+27407A>G) c.1154+9T>C (n.1154+9T>C) c.1085+9T>C (n.1085+9T>C) n.1478+23881A>G | gnomAD v4 |
9 | g.4576774G>A | CA4969255 | SLC1A1,SPATA6L | c.1193+11G>A (n.1193+11G>A) c.480+11G>A c.*782-22386C>T (n.*782-22386C>T) c.1262+11G>A (n.1262+11G>A) c.1202+11G>A (n.1202+11G>A) c.1133+11G>A (n.1133+11G>A) c.1052+11G>A (n.1052+11G>A) c.*1+27405C>T (n.*1+27405C>T) c.1154+11G>A (n.1154+11G>A) c.1085+11G>A (n.1085+11G>A) n.1478+23879C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576774G>C | CA2580859968 | SLC1A1,SPATA6L | c.1193+11G>C (n.1193+11G>C) c.480+11G>C c.*782-22386C>G (n.*782-22386C>G) c.1262+11G>C (n.1262+11G>C) c.1202+11G>C (n.1202+11G>C) c.1133+11G>C (n.1133+11G>C) c.1052+11G>C (n.1052+11G>C) c.*1+27405C>G (n.*1+27405C>G) c.1154+11G>C (n.1154+11G>C) c.1085+11G>C (n.1085+11G>C) n.1478+23879C>G | gnomAD v4 |
9 | g.4576774G= | CA1829385726 | SLC1A1,SPATA6L | c.1193+11G= (n.1193+11G=) c.480+11G= c.*782-22386C= (n.*782-22386C=) c.1262+11G= (n.1262+11G=) c.1202+11G= (n.1202+11G=) c.1133+11G= (n.1133+11G=) c.1052+11G= (n.1052+11G=) c.*1+27405C= (n.*1+27405C=) c.1154+11G= (n.1154+11G=) c.1085+11G= (n.1085+11G=) n.1478+23879C= | |
9 | g.4576774G>T | CA2580859967 | SLC1A1,SPATA6L | c.1193+11G>T (n.1193+11G>T) c.480+11G>T c.*782-22386C>A (n.*782-22386C>A) c.1262+11G>T (n.1262+11G>T) c.1202+11G>T (n.1202+11G>T) c.1133+11G>T (n.1133+11G>T) c.1052+11G>T (n.1052+11G>T) c.*1+27405C>A (n.*1+27405C>A) c.1154+11G>T (n.1154+11G>T) c.1085+11G>T (n.1085+11G>T) n.1478+23879C>A | |
9 | g.4576775T>C | CA4969256 | SLC1A1,SPATA6L | c.1193+12T>C (n.1193+12T>C) c.480+12T>C c.*782-22387A>G (n.*782-22387A>G) c.1262+12T>C (n.1262+12T>C) c.1202+12T>C (n.1202+12T>C) c.1133+12T>C (n.1133+12T>C) c.1052+12T>C (n.1052+12T>C) c.*1+27404A>G (n.*1+27404A>G) c.1154+12T>C (n.1154+12T>C) c.1085+12T>C (n.1085+12T>C) n.1478+23878A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.4576775T= | CA1829385730 | SLC1A1,SPATA6L | c.1193+12T= (n.1193+12T=) c.480+12T= c.*782-22387A= (n.*782-22387A=) c.1262+12T= (n.1262+12T=) c.1202+12T= (n.1202+12T=) c.1133+12T= (n.1133+12T=) c.1052+12T= (n.1052+12T=) c.*1+27404A= (n.*1+27404A=) c.1154+12T= (n.1154+12T=) c.1085+12T= (n.1085+12T=) n.1478+23878A= | |
9 | g.4576776G>A | CA585969955 | SLC1A1,SPATA6L | c.1193+13G>A (n.1193+13G>A) c.480+13G>A c.*782-22388C>T (n.*782-22388C>T) c.1262+13G>A (n.1262+13G>A) c.1202+13G>A (n.1202+13G>A) c.1133+13G>A (n.1133+13G>A) c.1052+13G>A (n.1052+13G>A) c.*1+27403C>T (n.*1+27403C>T) c.1154+13G>A (n.1154+13G>A) c.1085+13G>A (n.1085+13G>A) n.1478+23877C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576776G= | CA1829385733 | SLC1A1,SPATA6L | c.1193+13G= (n.1193+13G=) c.480+13G= c.*782-22388C= (n.*782-22388C=) c.1262+13G= (n.1262+13G=) c.1202+13G= (n.1202+13G=) c.1133+13G= (n.1133+13G=) c.1052+13G= (n.1052+13G=) c.*1+27403C= (n.*1+27403C=) c.1154+13G= (n.1154+13G=) c.1085+13G= (n.1085+13G=) n.1478+23877C= | |
9 | g.4576777T>C | CA2689285204 | SLC1A1,SPATA6L | c.1193+14T>C (n.1193+14T>C) c.480+14T>C c.*782-22389A>G (n.*782-22389A>G) c.1262+14T>C (n.1262+14T>C) c.1202+14T>C (n.1202+14T>C) c.1133+14T>C (n.1133+14T>C) c.1052+14T>C (n.1052+14T>C) c.*1+27402A>G (n.*1+27402A>G) c.1154+14T>C (n.1154+14T>C) c.1085+14T>C (n.1085+14T>C) n.1478+23876A>G | gnomAD v4 |
9 | g.4576778C>T | CA2689285205 | SLC1A1,SPATA6L | c.1193+15C>T (n.1193+15C>T) c.480+15C>T c.*782-22390G>A (n.*782-22390G>A) c.1262+15C>T (n.1262+15C>T) c.1202+15C>T (n.1202+15C>T) c.1133+15C>T (n.1133+15C>T) c.1052+15C>T (n.1052+15C>T) c.*1+27401G>A (n.*1+27401G>A) c.1154+15C>T (n.1154+15C>T) c.1085+15C>T (n.1085+15C>T) n.1478+23875G>A | gnomAD v4 |