| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.4576674T>A | CA372818520 | SLC1A1,SPATA6L | c.1104T>A (p.Asp368Glu) c.391T>A c.*782-22286A>T (n.*782-22286A>T) c.1173T>A (p.Asp391Glu) c.1113T>A (p.Asp371Glu) c.1044T>A (p.Asp348Glu) c.963T>A (p.Asp321Glu) c.*1+27505A>T (n.*1+27505A>T) c.1065T>A (p.Asp355Glu) c.996T>A (p.Asp332Glu) n.1478+23979A>T | |
| 9 | g.4576674T>C | CA463728601 | SLC1A1,SPATA6L | c.1104T>C (p.Asp368=) c.391T>C c.*782-22286A>G (n.*782-22286A>G) c.1173T>C (p.Asp391=) c.1113T>C (p.Asp371=) c.1044T>C (p.Asp348=) c.963T>C (p.Asp321=) c.*1+27505A>G (n.*1+27505A>G) c.1065T>C (p.Asp355=) c.996T>C (p.Asp332=) n.1478+23979A>G | |
| 9 | g.4576674T>G | CA372818522 | SLC1A1,SPATA6L | c.1104T>G (p.Asp368Glu) c.391T>G c.*782-22286A>C (n.*782-22286A>C) c.1173T>G (p.Asp391Glu) c.1113T>G (p.Asp371Glu) c.1044T>G (p.Asp348Glu) c.963T>G (p.Asp321Glu) c.*1+27505A>C (n.*1+27505A>C) c.1065T>G (p.Asp355Glu) c.996T>G (p.Asp332Glu) n.1478+23979A>C | |
| 9 | g.4576675G>A | CA372818525 | SLC1A1,SPATA6L | c.1105G>A (p.Gly369Arg) c.392G>A c.*782-22287C>T (n.*782-22287C>T) c.1174G>A (p.Gly392Arg) c.1114G>A (p.Gly372Arg) c.1045G>A (p.Gly349Arg) c.964G>A (p.Gly322Arg) c.*1+27504C>T (n.*1+27504C>T) c.1066G>A (p.Gly356Arg) c.997G>A (p.Gly333Arg) n.1478+23978C>T | |
| 9 | g.4576675G>C | CA372818529 | SLC1A1,SPATA6L | c.1105G>C (p.Gly369Arg) c.392G>C c.*782-22287C>G (n.*782-22287C>G) c.1174G>C (p.Gly392Arg) c.1114G>C (p.Gly372Arg) c.1045G>C (p.Gly349Arg) c.964G>C (p.Gly322Arg) c.*1+27504C>G (n.*1+27504C>G) c.1066G>C (p.Gly356Arg) c.997G>C (p.Gly333Arg) n.1478+23978C>G | |
| 9 | g.4576675G>T | CA372818527 | SLC1A1,SPATA6L | c.1105G>T (p.Gly369Trp) c.392G>T c.*782-22287C>A (n.*782-22287C>A) c.1174G>T (p.Gly392Trp) c.1114G>T (p.Gly372Trp) c.1045G>T (p.Gly349Trp) c.964G>T (p.Gly322Trp) c.*1+27504C>A (n.*1+27504C>A) c.1066G>T (p.Gly356Trp) c.997G>T (p.Gly333Trp) n.1478+23978C>A | gnomAD v4 |
| 9 | g.4576676G>A | CA372818532 | SLC1A1,SPATA6L | c.1106G>A (p.Gly369Glu) c.393G>A c.*782-22288C>T (n.*782-22288C>T) c.1175G>A (p.Gly392Glu) c.1115G>A (p.Gly372Glu) c.1046G>A (p.Gly349Glu) c.965G>A (p.Gly322Glu) c.*1+27503C>T (n.*1+27503C>T) c.1067G>A (p.Gly356Glu) c.998G>A (p.Gly333Glu) n.1478+23977C>T | |
| 9 | g.4576676G>C | CA372818534 | SLC1A1,SPATA6L | c.1106G>C (p.Gly369Ala) c.393G>C c.*782-22288C>G (n.*782-22288C>G) c.1175G>C (p.Gly392Ala) c.1115G>C (p.Gly372Ala) c.1046G>C (p.Gly349Ala) c.965G>C (p.Gly322Ala) c.*1+27503C>G (n.*1+27503C>G) c.1067G>C (p.Gly356Ala) c.998G>C (p.Gly333Ala) n.1478+23977C>G | |
| 9 | g.4576676G>T | CA372818536 | SLC1A1,SPATA6L | c.1106G>T (p.Gly369Val) c.393G>T c.*782-22288C>A (n.*782-22288C>A) c.1175G>T (p.Gly392Val) c.1115G>T (p.Gly372Val) c.1046G>T (p.Gly349Val) c.965G>T (p.Gly322Val) c.*1+27503C>A (n.*1+27503C>A) c.1067G>T (p.Gly356Val) c.998G>T (p.Gly333Val) n.1478+23977C>A | |
| 9 | g.4576677G>A | CA463728602 | SLC1A1,SPATA6L | c.1107G>A (p.Gly369=) c.394G>A c.*782-22289C>T (n.*782-22289C>T) c.1176G>A (p.Gly392=) c.1116G>A (p.Gly372=) c.1047G>A (p.Gly349=) c.966G>A (p.Gly322=) c.*1+27502C>T (n.*1+27502C>T) c.1068G>A (p.Gly356=) c.999G>A (p.Gly333=) n.1478+23976C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.4576677G>C | CA463728603 | SLC1A1,SPATA6L | c.1107G>C (p.Gly369=) c.394G>C c.*782-22289C>G (n.*782-22289C>G) c.1176G>C (p.Gly392=) c.1116G>C (p.Gly372=) c.1047G>C (p.Gly349=) c.966G>C (p.Gly322=) c.*1+27502C>G (n.*1+27502C>G) c.1068G>C (p.Gly356=) c.999G>C (p.Gly333=) n.1478+23976C>G | |
| 9 | g.4576677G= | CA1829385569 | SLC1A1,SPATA6L | c.1107G= (p.Gly369=) c.394G= c.*782-22289C= (n.*782-22289C=) c.1176G= (p.Gly392=) c.1116G= (p.Gly372=) c.1047G= (p.Gly349=) c.966G= (p.Gly322=) c.*1+27502C= (n.*1+27502C=) c.1068G= (p.Gly356=) c.999G= (p.Gly333=) n.1478+23976C= | |
| 9 | g.4576677G>T | CA463728604 | SLC1A1,SPATA6L | c.1107G>T (p.Gly369=) c.394G>T c.*782-22289C>A (n.*782-22289C>A) c.1176G>T (p.Gly392=) c.1116G>T (p.Gly372=) c.1047G>T (p.Gly349=) c.966G>T (p.Gly322=) c.*1+27502C>A (n.*1+27502C>A) c.1068G>T (p.Gly356=) c.999G>T (p.Gly333=) n.1478+23976C>A | |
| 9 | g.4576678A>C | CA372818538 | SLC1A1,SPATA6L | c.1108A>C (p.Thr370Pro) c.395A>C c.*782-22290T>G (n.*782-22290T>G) c.1177A>C (p.Thr393Pro) c.1117A>C (p.Thr373Pro) c.1048A>C (p.Thr350Pro) c.967A>C (p.Thr323Pro) c.*1+27501T>G (n.*1+27501T>G) c.1069A>C (p.Thr357Pro) c.1000A>C (p.Thr334Pro) n.1478+23975T>G | |
| 9 | g.4576678A>G | CA372818541 | SLC1A1,SPATA6L | c.1108A>G (p.Thr370Ala) c.395A>G c.*782-22290T>C (n.*782-22290T>C) c.1177A>G (p.Thr393Ala) c.1117A>G (p.Thr373Ala) c.1048A>G (p.Thr350Ala) c.967A>G (p.Thr323Ala) c.*1+27501T>C (n.*1+27501T>C) c.1069A>G (p.Thr357Ala) c.1000A>G (p.Thr334Ala) n.1478+23975T>C | |
| 9 | g.4576678A>T | CA372818543 | SLC1A1,SPATA6L | c.1108A>T (p.Thr370Ser) c.395A>T c.*782-22290T>A (n.*782-22290T>A) c.1177A>T (p.Thr393Ser) c.1117A>T (p.Thr373Ser) c.1048A>T (p.Thr350Ser) c.967A>T (p.Thr323Ser) c.*1+27501T>A (n.*1+27501T>A) c.1069A>T (p.Thr357Ser) c.1000A>T (p.Thr334Ser) n.1478+23975T>A | |
| 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 |