UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.75196559C>A | CA381871170 | SLCO2B1 | c.1479C>A (p.Cys493Ter) c.1413C>A (p.Cys471Ter) c.798C>A (p.Cys266Ter) c.1047C>A (p.Cys349Ter) n.285C>A n.306C>A n.1026C>A c.1131C>A (p.Cys377Ter) c.1485C>A (p.Cys495Ter) | |
| 11 | g.75196559C= | CA1983218009 | SLCO2B1 | c.1479C= (p.Cys493=) c.1413C= (p.Cys471=) c.798C= (p.Cys266=) c.1047C= (p.Cys349=) n.285C= n.306C= n.1026C= c.1131C= (p.Cys377=) c.1485C= (p.Cys495=) | |
| 11 | g.75196559C>G | CA381871171 | SLCO2B1 | c.1479C>G (p.Cys493Trp) c.1413C>G (p.Cys471Trp) c.798C>G (p.Cys266Trp) c.1047C>G (p.Cys349Trp) n.285C>G n.306C>G n.1026C>G c.1131C>G (p.Cys377Trp) c.1485C>G (p.Cys495Trp) | |
| 11 | g.75196559C>T | CA6188404 | SLCO2B1 | c.1479C>T (p.Cys493=) c.1413C>T (p.Cys471=) c.798C>T (p.Cys266=) c.1047C>T (p.Cys349=) n.285C>T n.306C>T n.1026C>T c.1131C>T (p.Cys377=) c.1485C>T (p.Cys495=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75196560T>A | CA381871172 | SLCO2B1 | c.1480T>A (p.Ser494Thr) c.1414T>A (p.Ser472Thr) c.799T>A (p.Ser267Thr) c.1048T>A (p.Ser350Thr) n.286T>A n.307T>A n.1027T>A c.1132T>A (p.Ser378Thr) c.1486T>A (p.Ser496Thr) | |
| 11 | g.75196560T>C | CA381871173 | SLCO2B1 | c.1480T>C (p.Ser494Pro) c.1414T>C (p.Ser472Pro) c.799T>C (p.Ser267Pro) c.1048T>C (p.Ser350Pro) n.286T>C n.307T>C n.1027T>C c.1132T>C (p.Ser378Pro) c.1486T>C (p.Ser496Pro) | |
| 11 | g.75196560T>G | CA381871174 | SLCO2B1 | c.1480T>G (p.Ser494Ala) c.1414T>G (p.Ser472Ala) c.799T>G (p.Ser267Ala) c.1048T>G (p.Ser350Ala) n.286T>G n.307T>G n.1027T>G c.1132T>G (p.Ser378Ala) c.1486T>G (p.Ser496Ala) | |
| 11 | g.75196561C>A | CA381871175 | SLCO2B1 | c.1481C>A (p.Ser494Tyr) c.1415C>A (p.Ser472Tyr) c.800C>A (p.Ser267Tyr) c.1049C>A (p.Ser350Tyr) n.287C>A n.308C>A n.1028C>A c.1133C>A (p.Ser378Tyr) c.1487C>A (p.Ser496Tyr) | |
| 11 | g.75196561C= | CA1983218010 | SLCO2B1 | c.1481C= (p.Ser494=) c.1415C= (p.Ser472=) c.800C= (p.Ser267=) c.1049C= (p.Ser350=) n.287C= n.308C= n.1028C= c.1133C= (p.Ser378=) c.1487C= (p.Ser496=) | |
| 11 | g.75196561C>G | CA381871176 | SLCO2B1 | c.1481C>G (p.Ser494Cys) c.1415C>G (p.Ser472Cys) c.800C>G (p.Ser267Cys) c.1049C>G (p.Ser350Cys) n.287C>G n.308C>G n.1028C>G c.1133C>G (p.Ser378Cys) c.1487C>G (p.Ser496Cys) | |
| 11 | g.75196561C>T | CA6188405 | SLCO2B1 | c.1481C>T (p.Ser494Phe) c.1415C>T (p.Ser472Phe) c.800C>T (p.Ser267Phe) c.1049C>T (p.Ser350Phe) n.287C>T n.308C>T n.1028C>T c.1133C>T (p.Ser378Phe) c.1487C>T (p.Ser496Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75196562C>A | CA475707558 | SLCO2B1 | c.1482C>A (p.Ser494=) c.1416C>A (p.Ser472=) c.801C>A (p.Ser267=) c.1050C>A (p.Ser350=) n.288C>A n.309C>A n.1029C>A c.1134C>A (p.Ser378=) c.1488C>A (p.Ser496=) | |
| 11 | g.75196562C>G | CA475707560 | SLCO2B1 | c.1482C>G (p.Ser494=) c.1416C>G (p.Ser472=) c.801C>G (p.Ser267=) c.1050C>G (p.Ser350=) n.288C>G n.309C>G n.1029C>G c.1134C>G (p.Ser378=) c.1488C>G (p.Ser496=) | |
| 11 | g.75196562C>T | CA475707562 | SLCO2B1 | c.1482C>T (p.Ser494=) c.1416C>T (p.Ser472=) c.801C>T (p.Ser267=) c.1050C>T (p.Ser350=) n.288C>T n.309C>T n.1029C>T c.1134C>T (p.Ser378=) c.1488C>T (p.Ser496=) | |
| 11 | g.75196563T>A | CA381871179 | SLCO2B1 | c.1483T>A (p.Cys495Ser) c.1417T>A (p.Cys473Ser) c.802T>A (p.Cys268Ser) c.1051T>A (p.Cys351Ser) n.289T>A n.310T>A n.1030T>A c.1135T>A (p.Cys379Ser) c.1489T>A (p.Cys497Ser) | |
| 11 | g.75196563T>C | CA381871177 | SLCO2B1 | c.1483T>C (p.Cys495Arg) c.1417T>C (p.Cys473Arg) c.802T>C (p.Cys268Arg) c.1051T>C (p.Cys351Arg) n.289T>C n.310T>C n.1030T>C c.1135T>C (p.Cys379Arg) c.1489T>C (p.Cys497Arg) | |
| 11 | g.75196563T>G | CA381871178 | SLCO2B1 | c.1483T>G (p.Cys495Gly) c.1417T>G (p.Cys473Gly) c.802T>G (p.Cys268Gly) c.1051T>G (p.Cys351Gly) n.289T>G n.310T>G n.1030T>G c.1135T>G (p.Cys379Gly) c.1489T>G (p.Cys497Gly) | |
| 11 | g.75196564G>A | CA381871180 | SLCO2B1 | c.1484G>A (p.Cys495Tyr) c.1418G>A (p.Cys473Tyr) c.803G>A (p.Cys268Tyr) c.1052G>A (p.Cys351Tyr) n.290G>A n.311G>A n.1031G>A c.1136G>A (p.Cys379Tyr) c.1490G>A (p.Cys497Tyr) | dbSNP |
| 11 | g.75196564G>C | CA381871181 | SLCO2B1 | c.1484G>C (p.Cys495Ser) c.1418G>C (p.Cys473Ser) c.803G>C (p.Cys268Ser) c.1052G>C (p.Cys351Ser) n.290G>C n.311G>C n.1031G>C c.1136G>C (p.Cys379Ser) c.1490G>C (p.Cys497Ser) | gnomAD v4 |
| 11 | g.75196564G= | CA1983218011 | SLCO2B1 | c.1484G= (p.Cys495=) c.1418G= (p.Cys473=) c.803G= (p.Cys268=) c.1052G= (p.Cys351=) n.290G= n.311G= n.1031G= c.1136G= (p.Cys379=) c.1490G= (p.Cys497=) | |
| 11 | g.75196564G>T | CA381871182 | SLCO2B1 | c.1484G>T (p.Cys495Phe) c.1418G>T (p.Cys473Phe) c.803G>T (p.Cys268Phe) c.1052G>T (p.Cys351Phe) n.290G>T n.311G>T n.1031G>T c.1136G>T (p.Cys379Phe) c.1490G>T (p.Cys497Phe) | |
| 11 | g.75196565C>A | CA381871183 | SLCO2B1 | c.1485C>A (p.Cys495Ter) c.1419C>A (p.Cys473Ter) c.804C>A (p.Cys268Ter) c.1053C>A (p.Cys351Ter) n.291C>A n.312C>A n.1032C>A c.1137C>A (p.Cys379Ter) c.1491C>A (p.Cys497Ter) | |
| 11 | g.75196565C>G | CA381871184 | SLCO2B1 | c.1485C>G (p.Cys495Trp) c.1419C>G (p.Cys473Trp) c.804C>G (p.Cys268Trp) c.1053C>G (p.Cys351Trp) n.291C>G n.312C>G n.1032C>G c.1137C>G (p.Cys379Trp) c.1491C>G (p.Cys497Trp) | |
| 11 | g.75196565C>T | CA475707572 | SLCO2B1 | c.1485C>T (p.Cys495=) c.1419C>T (p.Cys473=) c.804C>T (p.Cys268=) c.1053C>T (p.Cys351=) n.291C>T n.312C>T n.1032C>T c.1137C>T (p.Cys379=) c.1491C>T (p.Cys497=) | |
| 11 | g.75196566C>A | CA381871185 | SLCO2B1 | c.1486C>A (p.Pro496Thr) c.1420C>A (p.Pro474Thr) c.805C>A (p.Pro269Thr) c.1054C>A (p.Pro352Thr) n.292C>A n.313C>A n.1033C>A c.1138C>A (p.Pro380Thr) c.1492C>A (p.Pro498Thr) | |
| 11 | g.75196566C>G | CA381871187 | SLCO2B1 | c.1486C>G (p.Pro496Ala) c.1420C>G (p.Pro474Ala) c.805C>G (p.Pro269Ala) c.1054C>G (p.Pro352Ala) n.292C>G n.313C>G n.1033C>G c.1138C>G (p.Pro380Ala) c.1492C>G (p.Pro498Ala) | |
| 11 | g.75196566C>T | CA381871186 | SLCO2B1 | c.1486C>T (p.Pro496Ser) c.1420C>T (p.Pro474Ser) c.805C>T (p.Pro269Ser) c.1054C>T (p.Pro352Ser) n.292C>T n.313C>T n.1033C>T c.1138C>T (p.Pro380Ser) c.1492C>T (p.Pro498Ser) | |
| 11 | g.75196567C>A | CA381871188 | SLCO2B1 | c.1487C>A (p.Pro496Gln) c.1421C>A (p.Pro474Gln) c.806C>A (p.Pro269Gln) c.1055C>A (p.Pro352Gln) n.293C>A n.314C>A n.1034C>A c.1139C>A (p.Pro380Gln) c.1493C>A (p.Pro498Gln) | |
| 11 | g.75196567C>G | CA381871189 | SLCO2B1 | c.1487C>G (p.Pro496Arg) c.1421C>G (p.Pro474Arg) c.806C>G (p.Pro269Arg) c.1055C>G (p.Pro352Arg) n.293C>G n.314C>G n.1034C>G c.1139C>G (p.Pro380Arg) c.1493C>G (p.Pro498Arg) | |
| 11 | g.75196567C>T | CA381871190 | SLCO2B1 | c.1487C>T (p.Pro496Leu) c.1421C>T (p.Pro474Leu) c.806C>T (p.Pro269Leu) c.1055C>T (p.Pro352Leu) n.293C>T n.314C>T n.1034C>T c.1139C>T (p.Pro380Leu) c.1493C>T (p.Pro498Leu) | |
| 11 | g.75196568A>C | CA475707580 | SLCO2B1 | c.1488A>C (p.Pro496=) c.1422A>C (p.Pro474=) c.807A>C (p.Pro269=) c.1056A>C (p.Pro352=) n.294A>C n.315A>C n.1035A>C c.1140A>C (p.Pro380=) c.1494A>C (p.Pro498=) | |
| 11 | g.75196568A>G | CA475707582 | SLCO2B1 | c.1488A>G (p.Pro496=) c.1422A>G (p.Pro474=) c.807A>G (p.Pro269=) c.1056A>G (p.Pro352=) n.294A>G n.315A>G n.1035A>G c.1140A>G (p.Pro380=) c.1494A>G (p.Pro498=) | |
| 11 | g.75196568A>T | CA475707584 | SLCO2B1 | c.1488A>T (p.Pro496=) c.1422A>T (p.Pro474=) c.807A>T (p.Pro269=) c.1056A>T (p.Pro352=) n.294A>T n.315A>T n.1035A>T c.1140A>T (p.Pro380=) c.1494A>T (p.Pro498=) | |
| 11 | g.75196568_75196569del | CA2792729323 | SLCO2B1 | c.1488_1489del (p.Leu497GlyfsTer4) c.1422_1423del (p.Leu475GlyfsTer4) c.807_808del (p.Leu270GlyfsTer4) c.1056_1057del (p.Leu353GlyfsTer4) n.294_295del n.315_316del n.1035_1036del c.1140_1141del (p.Leu381GlyfsTer4) c.1494_1495del (p.Leu499GlyfsTer4) | |
| 11 | g.75196569T>A | CA381871191 | SLCO2B1 | c.1489T>A (p.Leu497Met) c.1423T>A (p.Leu475Met) c.808T>A (p.Leu270Met) c.1057T>A (p.Leu353Met) n.295T>A n.316T>A n.1036T>A c.1141T>A (p.Leu381Met) c.1495T>A (p.Leu499Met) | gnomAD v4 |
| 11 | g.75196569T>C | CA6188406 | SLCO2B1 | c.1489T>C (p.Leu497=) c.1423T>C (p.Leu475=) c.808T>C (p.Leu270=) c.1057T>C (p.Leu353=) n.295T>C n.316T>C n.1036T>C c.1141T>C (p.Leu381=) c.1495T>C (p.Leu499=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75196569T>G | CA381871192 | SLCO2B1 | c.1489T>G (p.Leu497Val) c.1423T>G (p.Leu475Val) c.808T>G (p.Leu270Val) c.1057T>G (p.Leu353Val) n.295T>G n.316T>G n.1036T>G c.1141T>G (p.Leu381Val) c.1495T>G (p.Leu499Val) | |
| 11 | g.75196569T= | CA1983218012 | SLCO2B1 | c.1489T= (p.Leu497=) c.1423T= (p.Leu475=) c.808T= (p.Leu270=) c.1057T= (p.Leu353=) n.295T= n.316T= n.1036T= c.1141T= (p.Leu381=) c.1495T= (p.Leu499=) | |
| 11 | g.75196570T>A | CA381871193 | SLCO2B1 | c.1490T>A (p.Leu497Ter) c.1424T>A (p.Leu475Ter) c.809T>A (p.Leu270Ter) c.1058T>A (p.Leu353Ter) n.296T>A n.317T>A n.1037T>A c.1142T>A (p.Leu381Ter) c.1496T>A (p.Leu499Ter) | |
| 11 | g.75196570T>C | CA6188407 | SLCO2B1 | c.1490T>C (p.Leu497Ser) c.1424T>C (p.Leu475Ser) c.809T>C (p.Leu270Ser) c.1058T>C (p.Leu353Ser) n.296T>C n.317T>C n.1037T>C c.1142T>C (p.Leu381Ser) c.1496T>C (p.Leu499Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75196570T>G | CA381871194 | SLCO2B1 | c.1490T>G (p.Leu497Trp) c.1424T>G (p.Leu475Trp) c.809T>G (p.Leu270Trp) c.1058T>G (p.Leu353Trp) n.296T>G n.317T>G n.1037T>G c.1142T>G (p.Leu381Trp) c.1496T>G (p.Leu499Trp) | |
| 11 | g.75196570T= | CA1983218013 | SLCO2B1 | c.1490T= (p.Leu497=) c.1424T= (p.Leu475=) c.809T= (p.Leu270=) c.1058T= (p.Leu353=) n.296T= n.317T= n.1037T= c.1142T= (p.Leu381=) c.1496T= (p.Leu499=) | |
| 11 | g.75196571G>A | CA475707594 | SLCO2B1 | c.1491G>A (p.Leu497=) c.1425G>A (p.Leu475=) c.810G>A (p.Leu270=) c.1059G>A (p.Leu353=) n.297G>A n.318G>A n.1038G>A c.1143G>A (p.Leu381=) c.1497G>A (p.Leu499=) | COSMIC |
| 11 | g.75196571G>C | CA381871195 | SLCO2B1 | c.1491G>C (p.Leu497Phe) c.1425G>C (p.Leu475Phe) c.810G>C (p.Leu270Phe) c.1059G>C (p.Leu353Phe) n.297G>C n.318G>C n.1038G>C c.1143G>C (p.Leu381Phe) c.1497G>C (p.Leu499Phe) | |
| 11 | g.75196571G>T | CA381871196 | SLCO2B1 | c.1491G>T (p.Leu497Phe) c.1425G>T (p.Leu475Phe) c.810G>T (p.Leu270Phe) c.1059G>T (p.Leu353Phe) n.297G>T n.318G>T n.1038G>T c.1143G>T (p.Leu381Phe) c.1497G>T (p.Leu499Phe) | |
| 11 | g.75196572G>A | CA6188408 | SLCO2B1 | c.1492G>A (p.Asp498Asn) c.1426G>A (p.Asp476Asn) c.811G>A (p.Asp271Asn) c.1060G>A (p.Asp354Asn) n.298G>A n.319G>A n.1039G>A c.1144G>A (p.Asp382Asn) c.1498G>A (p.Asp500Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75196572G>C | CA381871198 | SLCO2B1 | c.1492G>C (p.Asp498His) c.1426G>C (p.Asp476His) c.811G>C (p.Asp271His) c.1060G>C (p.Asp354His) n.298G>C n.319G>C n.1039G>C c.1144G>C (p.Asp382His) c.1498G>C (p.Asp500His) | |
| 11 | g.75196572G= | CA1983218014 | SLCO2B1 | c.1492G= (p.Asp498=) c.1426G= (p.Asp476=) c.811G= (p.Asp271=) c.1060G= (p.Asp354=) n.298G= n.319G= n.1039G= c.1144G= (p.Asp382=) c.1498G= (p.Asp500=) | |
| 11 | g.75196572G>T | CA381871197 | SLCO2B1 | c.1492G>T (p.Asp498Tyr) c.1426G>T (p.Asp476Tyr) c.811G>T (p.Asp271Tyr) c.1060G>T (p.Asp354Tyr) n.298G>T n.319G>T n.1039G>T c.1144G>T (p.Asp382Tyr) c.1498G>T (p.Asp500Tyr) | |
| 11 | g.75196573A= | CA1983218015 | SLCO2B1 | c.1493A= (p.Asp498=) c.1427A= (p.Asp476=) c.812A= (p.Asp271=) c.1061A= (p.Asp354=) n.299A= n.320A= n.1040A= c.1145A= (p.Asp382=) c.1499A= (p.Asp500=) | |
| 11 | g.75196573A>C | CA381871199 | SLCO2B1 | c.1493A>C (p.Asp498Ala) c.1427A>C (p.Asp476Ala) c.812A>C (p.Asp271Ala) c.1061A>C (p.Asp354Ala) n.299A>C n.320A>C n.1040A>C c.1145A>C (p.Asp382Ala) c.1499A>C (p.Asp500Ala) | |
| 11 | g.75196573A>G | CA224629847 | SLCO2B1 | c.1493A>G (p.Asp498Gly) c.1427A>G (p.Asp476Gly) c.812A>G (p.Asp271Gly) c.1061A>G (p.Asp354Gly) n.299A>G n.320A>G n.1040A>G c.1145A>G (p.Asp382Gly) c.1499A>G (p.Asp500Gly) | dbSNP gnomAD v4 |
| 11 | g.75196573A>T | CA381871200 | SLCO2B1 | c.1493A>T (p.Asp498Val) c.1427A>T (p.Asp476Val) c.812A>T (p.Asp271Val) c.1061A>T (p.Asp354Val) n.299A>T n.320A>T n.1040A>T c.1145A>T (p.Asp382Val) c.1499A>T (p.Asp500Val) | |
| 11 | g.75196574C>A | CA224629851 | SLCO2B1 | c.1494C>A (p.Asp498Glu) c.1428C>A (p.Asp476Glu) c.813C>A (p.Asp271Glu) c.1062C>A (p.Asp354Glu) n.300C>A n.321C>A n.1041C>A c.1146C>A (p.Asp382Glu) c.1500C>A (p.Asp500Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75196574C= | CA1983218016 | SLCO2B1 | c.1494C= (p.Asp498=) c.1428C= (p.Asp476=) c.813C= (p.Asp271=) c.1062C= (p.Asp354=) n.300C= n.321C= n.1041C= c.1146C= (p.Asp382=) c.1500C= (p.Asp500=) | |
| 11 | g.75196574C>G | CA381871201 | SLCO2B1 | c.1494C>G (p.Asp498Glu) c.1428C>G (p.Asp476Glu) c.813C>G (p.Asp271Glu) c.1062C>G (p.Asp354Glu) n.300C>G n.321C>G n.1041C>G c.1146C>G (p.Asp382Glu) c.1500C>G (p.Asp500Glu) | |
| 11 | g.75196574C>T | CA6188409 | SLCO2B1 | c.1494C>T (p.Asp498=) c.1428C>T (p.Asp476=) c.813C>T (p.Asp271=) c.1062C>T (p.Asp354=) n.300C>T n.321C>T n.1041C>T c.1146C>T (p.Asp382=) c.1500C>T (p.Asp500=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.75196575G>A | CA6188410 | SLCO2B1 | c.1495G>A (p.Gly499Ser) c.1429G>A (p.Gly477Ser) c.814G>A (p.Gly272Ser) c.1063G>A (p.Gly355Ser) n.301G>A n.322G>A n.1042G>A c.1147G>A (p.Gly383Ser) c.1501G>A (p.Gly501Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.75196575G>C | CA381871202 | SLCO2B1 | c.1495G>C (p.Gly499Arg) c.1429G>C (p.Gly477Arg) c.814G>C (p.Gly272Arg) c.1063G>C (p.Gly355Arg) n.301G>C n.322G>C n.1042G>C c.1147G>C (p.Gly383Arg) c.1501G>C (p.Gly501Arg) | dbSNP |
| 11 | g.75196575G= | CA1983218017 | SLCO2B1 | c.1495G= (p.Gly499=) c.1429G= (p.Gly477=) c.814G= (p.Gly272=) c.1063G= (p.Gly355=) n.301G= n.322G= n.1042G= c.1147G= (p.Gly383=) c.1501G= (p.Gly501=) | |
| 11 | g.75196575G>T | CA381871203 | SLCO2B1 | c.1495G>T (p.Gly499Cys) c.1429G>T (p.Gly477Cys) c.814G>T (p.Gly272Cys) c.1063G>T (p.Gly355Cys) n.301G>T n.322G>T n.1042G>T c.1147G>T (p.Gly383Cys) c.1501G>T (p.Gly501Cys) | |
| 11 | g.75196576G>A | CA381871204 | SLCO2B1 | c.1496G>A (p.Gly499Asp) c.1430G>A (p.Gly477Asp) c.815G>A (p.Gly272Asp) c.1064G>A (p.Gly355Asp) n.302G>A n.323G>A n.1043G>A c.1148G>A (p.Gly383Asp) c.1502G>A (p.Gly501Asp) | gnomAD v4 |
| 11 | g.75196576G>C | CA381871205 | SLCO2B1 | c.1496G>C (p.Gly499Ala) c.1430G>C (p.Gly477Ala) c.815G>C (p.Gly272Ala) c.1064G>C (p.Gly355Ala) n.302G>C n.323G>C n.1043G>C c.1148G>C (p.Gly383Ala) c.1502G>C (p.Gly501Ala) | |
| 11 | g.75196576G>T | CA381871206 | SLCO2B1 | c.1496G>T (p.Gly499Val) c.1430G>T (p.Gly477Val) c.815G>T (p.Gly272Val) c.1064G>T (p.Gly355Val) n.302G>T n.323G>T n.1043G>T c.1148G>T (p.Gly383Val) c.1502G>T (p.Gly501Val) | |
| 11 | g.75196577C>A | CA475707617 | SLCO2B1 | c.1497C>A (p.Gly499=) c.1431C>A (p.Gly477=) c.816C>A (p.Gly272=) c.1065C>A (p.Gly355=) n.303C>A n.324C>A n.1044C>A c.1149C>A (p.Gly383=) c.1503C>A (p.Gly501=) | |
| 11 | g.75196577C>G | CA475707615 | SLCO2B1 | c.1497C>G (p.Gly499=) c.1431C>G (p.Gly477=) c.816C>G (p.Gly272=) c.1065C>G (p.Gly355=) n.303C>G n.324C>G n.1044C>G c.1149C>G (p.Gly383=) c.1503C>G (p.Gly501=) | |
| 11 | g.75196577C>T | CA475707613 | SLCO2B1 | c.1497C>T (p.Gly499=) c.1431C>T (p.Gly477=) c.816C>T (p.Gly272=) c.1065C>T (p.Gly355=) n.303C>T n.324C>T n.1044C>T c.1149C>T (p.Gly383=) c.1503C>T (p.Gly501=) | gnomAD v4 |
| 11 | g.75196578T>A | CA381871209 | SLCO2B1 | c.1498T>A (p.Phe500Ile) c.1432T>A (p.Phe478Ile) c.817T>A (p.Phe273Ile) c.1066T>A (p.Phe356Ile) n.304T>A n.325T>A n.1045T>A c.1150T>A (p.Phe384Ile) c.1504T>A (p.Phe502Ile) | |
| 11 | g.75196578T>C | CA381871207 | SLCO2B1 | c.1498T>C (p.Phe500Leu) c.1432T>C (p.Phe478Leu) c.817T>C (p.Phe273Leu) c.1066T>C (p.Phe356Leu) n.304T>C n.325T>C n.1045T>C c.1150T>C (p.Phe384Leu) c.1504T>C (p.Phe502Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75196578T>G | CA381871208 | SLCO2B1 | c.1498T>G (p.Phe500Val) c.1432T>G (p.Phe478Val) c.817T>G (p.Phe273Val) c.1066T>G (p.Phe356Val) n.304T>G n.325T>G n.1045T>G c.1150T>G (p.Phe384Val) c.1504T>G (p.Phe502Val) | |
| 11 | g.75196578T= | CA1983218018 | SLCO2B1 | c.1498T= (p.Phe500=) c.1432T= (p.Phe478=) c.817T= (p.Phe273=) c.1066T= (p.Phe356=) n.304T= n.325T= n.1045T= c.1150T= (p.Phe384=) c.1504T= (p.Phe502=) | |
| 11 | g.75196579T>A | CA381871210 | SLCO2B1 | c.1499T>A (p.Phe500Tyr) c.1433T>A (p.Phe478Tyr) c.818T>A (p.Phe273Tyr) c.1067T>A (p.Phe356Tyr) n.305T>A n.326T>A n.1046T>A c.1151T>A (p.Phe384Tyr) c.1505T>A (p.Phe502Tyr) | |
| 11 | g.75196579T>C | CA381871211 | SLCO2B1 | c.1499T>C (p.Phe500Ser) c.1433T>C (p.Phe478Ser) c.818T>C (p.Phe273Ser) c.1067T>C (p.Phe356Ser) n.305T>C n.326T>C n.1046T>C c.1151T>C (p.Phe384Ser) c.1505T>C (p.Phe502Ser) | |
| 11 | g.75196579T>G | CA381871212 | SLCO2B1 | c.1499T>G (p.Phe500Cys) c.1433T>G (p.Phe478Cys) c.818T>G (p.Phe273Cys) c.1067T>G (p.Phe356Cys) n.305T>G n.326T>G n.1046T>G c.1151T>G (p.Phe384Cys) c.1505T>G (p.Phe502Cys) | |
| 11 | g.75196580T>A | CA381871213 | SLCO2B1 | c.1500T>A (p.Phe500Leu) c.1434T>A (p.Phe478Leu) c.819T>A (p.Phe273Leu) c.1068T>A (p.Phe356Leu) n.306T>A n.327T>A n.1047T>A c.1152T>A (p.Phe384Leu) c.1506T>A (p.Phe502Leu) | |
| 11 | g.75196580T>C | CA475707626 | SLCO2B1 | c.1500T>C (p.Phe500=) c.1434T>C (p.Phe478=) c.819T>C (p.Phe273=) c.1068T>C (p.Phe356=) n.306T>C n.327T>C n.1047T>C c.1152T>C (p.Phe384=) c.1506T>C (p.Phe502=) | |
| 11 | g.75196580T>G | CA381871214 | SLCO2B1 | c.1500T>G (p.Phe500Leu) c.1434T>G (p.Phe478Leu) c.819T>G (p.Phe273Leu) c.1068T>G (p.Phe356Leu) n.306T>G n.327T>G n.1047T>G c.1152T>G (p.Phe384Leu) c.1506T>G (p.Phe502Leu) | |
| 11 | g.75196581A>C | CA381871215 | SLCO2B1 | c.1501A>C (p.Asn501His) c.1435A>C (p.Asn479His) c.820A>C (p.Asn274His) c.1069A>C (p.Asn357His) n.307A>C n.328A>C n.1048A>C c.1153A>C (p.Asn385His) c.1507A>C (p.Asn503His) | |
| 11 | g.75196581A>G | CA381871216 | SLCO2B1 | c.1501A>G (p.Asn501Asp) c.1435A>G (p.Asn479Asp) c.820A>G (p.Asn274Asp) c.1069A>G (p.Asn357Asp) n.307A>G n.328A>G n.1048A>G c.1153A>G (p.Asn385Asp) c.1507A>G (p.Asn503Asp) | gnomAD v4 |
| 11 | g.75196581A>T | CA381871217 | SLCO2B1 | c.1501A>T (p.Asn501Tyr) c.1435A>T (p.Asn479Tyr) c.820A>T (p.Asn274Tyr) c.1069A>T (p.Asn357Tyr) n.307A>T n.328A>T n.1048A>T c.1153A>T (p.Asn385Tyr) c.1507A>T (p.Asn503Tyr) | |
| 11 | g.75196582A= | CA1983218019 | SLCO2B1 | c.1502A= (p.Asn501=) c.1436A= (p.Asn479=) c.821A= (p.Asn274=) c.1070A= (p.Asn357=) n.308A= n.329A= n.1049A= c.1154A= (p.Asn385=) c.1508A= (p.Asn503=) | |
| 11 | g.75196582A>C | CA381871218 | SLCO2B1 | c.1502A>C (p.Asn501Thr) c.1436A>C (p.Asn479Thr) c.821A>C (p.Asn274Thr) c.1070A>C (p.Asn357Thr) n.308A>C n.329A>C n.1049A>C c.1154A>C (p.Asn385Thr) c.1508A>C (p.Asn503Thr) | |
| 11 | g.75196582A>G | CA6188411 | SLCO2B1 | c.1502A>G (p.Asn501Ser) c.1436A>G (p.Asn479Ser) c.821A>G (p.Asn274Ser) c.1070A>G (p.Asn357Ser) n.308A>G n.329A>G n.1049A>G c.1154A>G (p.Asn385Ser) c.1508A>G (p.Asn503Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75196582A>T | CA381871219 | SLCO2B1 | c.1502A>T (p.Asn501Ile) c.1436A>T (p.Asn479Ile) c.821A>T (p.Asn274Ile) c.1070A>T (p.Asn357Ile) n.308A>T n.329A>T n.1049A>T c.1154A>T (p.Asn385Ile) c.1508A>T (p.Asn503Ile) | |
| 11 | g.75196583C>A | CA381871221 | SLCO2B1 | c.1503C>A (p.Asn501Lys) c.1437C>A (p.Asn479Lys) c.822C>A (p.Asn274Lys) c.1071C>A (p.Asn357Lys) n.309C>A n.330C>A n.1050C>A c.1155C>A (p.Asn385Lys) c.1509C>A (p.Asn503Lys) | |
| 11 | g.75196583C= | CA1983218020 | SLCO2B1 | c.1503C= (p.Asn501=) c.1437C= (p.Asn479=) c.822C= (p.Asn274=) c.1071C= (p.Asn357=) n.309C= n.330C= n.1050C= c.1155C= (p.Asn385=) c.1509C= (p.Asn503=) | |
| 11 | g.75196583C>G | CA381871220 | SLCO2B1 | c.1503C>G (p.Asn501Lys) c.1437C>G (p.Asn479Lys) c.822C>G (p.Asn274Lys) c.1071C>G (p.Asn357Lys) n.309C>G n.330C>G n.1050C>G c.1155C>G (p.Asn385Lys) c.1509C>G (p.Asn503Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75196583C>T | CA475707635 | SLCO2B1 | c.1503C>T (p.Asn501=) c.1437C>T (p.Asn479=) c.822C>T (p.Asn274=) c.1071C>T (p.Asn357=) n.309C>T n.330C>T n.1050C>T c.1155C>T (p.Asn385=) c.1509C>T (p.Asn503=) | |
| 11 | g.75196584C>A | CA381871222 | SLCO2B1 | c.1504C>A (p.Pro502Thr) c.1438C>A (p.Pro480Thr) c.823C>A (p.Pro275Thr) c.1072C>A (p.Pro358Thr) n.310C>A n.331C>A n.1051C>A c.1156C>A (p.Pro386Thr) c.1510C>A (p.Pro504Thr) | |
| 11 | g.75196584C>G | CA381871223 | SLCO2B1 | c.1504C>G (p.Pro502Ala) c.1438C>G (p.Pro480Ala) c.823C>G (p.Pro275Ala) c.1072C>G (p.Pro358Ala) n.310C>G n.331C>G n.1051C>G c.1156C>G (p.Pro386Ala) c.1510C>G (p.Pro504Ala) | |
| 11 | g.75196584C>T | CA381871224 | SLCO2B1 | c.1504C>T (p.Pro502Ser) c.1438C>T (p.Pro480Ser) c.823C>T (p.Pro275Ser) c.1072C>T (p.Pro358Ser) n.310C>T n.331C>T n.1051C>T c.1156C>T (p.Pro386Ser) c.1510C>T (p.Pro504Ser) | |
| 11 | g.75196584_75196586delinsCCT | CA1983218021 | SLCO2B1 | c.1504_1506delinsCCT (p.Pro502=) c.1438_1440delinsCCT (p.Pro480=) c.823_825delinsCCT (p.Pro275=) c.1072_1074delinsCCT (p.Pro358=) n.310_312delinsCCT n.331_333delinsCCT n.1051_1053delinsCCT c.1156_1158delinsCCT (p.Pro386=) c.1510_1512delinsCCT (p.Pro504=) | |
| 11 | g.75196585C>A | CA381871225 | SLCO2B1 | c.1505C>A (p.Pro502His) c.1439C>A (p.Pro480His) c.824C>A (p.Pro275His) c.1073C>A (p.Pro358His) n.311C>A n.332C>A n.1052C>A c.1157C>A (p.Pro386His) c.1511C>A (p.Pro504His) | |
| 11 | g.75196585C= | CA1983218022 | SLCO2B1 | c.1505C= (p.Pro502=) c.1439C= (p.Pro480=) c.824C= (p.Pro275=) c.1073C= (p.Pro358=) n.311C= n.332C= n.1052C= c.1157C= (p.Pro386=) c.1511C= (p.Pro504=) | |
| 11 | g.75196585C>G | CA381871226 | SLCO2B1 | c.1505C>G (p.Pro502Arg) c.1439C>G (p.Pro480Arg) c.824C>G (p.Pro275Arg) c.1073C>G (p.Pro358Arg) n.311C>G n.332C>G n.1052C>G c.1157C>G (p.Pro386Arg) c.1511C>G (p.Pro504Arg) | gnomAD v4 |
| 11 | g.75196585C>T | CA381871227 | SLCO2B1 | c.1505C>T (p.Pro502Leu) c.1439C>T (p.Pro480Leu) c.824C>T (p.Pro275Leu) c.1073C>T (p.Pro358Leu) n.311C>T n.332C>T n.1052C>T c.1157C>T (p.Pro386Leu) c.1511C>T (p.Pro504Leu) | dbSNP |
| 11 | g.75196585_75196586del | CA6188412 | SLCO2B1 | c.1505_1506del (p.Pro502ArgfsTer?) c.1439_1440del (p.Pro480ArgfsTer?) c.824_825del (p.Pro275ArgfsTer?) c.1073_1074del (p.Pro358ArgfsTer?) n.311_312del n.332_333del n.1052_1053del c.1157_1158del (p.Pro386ArgfsTer?) c.1511_1512del (p.Pro504ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75196586T>A | CA475707651 | SLCO2B1 | c.1506T>A (p.Pro502=) c.1440T>A (p.Pro480=) c.825T>A (p.Pro275=) c.1074T>A (p.Pro358=) n.312T>A n.333T>A n.1053T>A c.1158T>A (p.Pro386=) c.1512T>A (p.Pro504=) | |
| 11 | g.75196586T>C | CA475707653 | SLCO2B1 | c.1506T>C (p.Pro502=) c.1440T>C (p.Pro480=) c.825T>C (p.Pro275=) c.1074T>C (p.Pro358=) n.312T>C n.333T>C n.1053T>C c.1158T>C (p.Pro386=) c.1512T>C (p.Pro504=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75196586T>G | CA475707655 | SLCO2B1 | c.1506T>G (p.Pro502=) c.1440T>G (p.Pro480=) c.825T>G (p.Pro275=) c.1074T>G (p.Pro358=) n.312T>G n.333T>G n.1053T>G c.1158T>G (p.Pro386=) c.1512T>G (p.Pro504=) | |
| 11 | g.75196586T= | CA1983218023 | SLCO2B1 | c.1506T= (p.Pro502=) c.1440T= (p.Pro480=) c.825T= (p.Pro275=) c.1074T= (p.Pro358=) n.312T= n.333T= n.1053T= c.1158T= (p.Pro386=) c.1512T= (p.Pro504=) | |
| 11 | g.75196587G>A | CA381871228 | SLCO2B1 | c.1507G>A (p.Val503Ile) c.1441G>A (p.Val481Ile) c.826G>A (p.Val276Ile) c.1075G>A (p.Val359Ile) n.313G>A n.334G>A n.1054G>A c.1159G>A (p.Val387Ile) c.1513G>A (p.Val505Ile) | |
| 11 | g.75196587G>C | CA381871229 | SLCO2B1 | c.1507G>C (p.Val503Leu) c.1441G>C (p.Val481Leu) c.826G>C (p.Val276Leu) c.1075G>C (p.Val359Leu) n.313G>C n.334G>C n.1054G>C c.1159G>C (p.Val387Leu) c.1513G>C (p.Val505Leu) | |
| 11 | g.75196587G>T | CA381871230 | SLCO2B1 | c.1507G>T (p.Val503Phe) c.1441G>T (p.Val481Phe) c.826G>T (p.Val276Phe) c.1075G>T (p.Val359Phe) n.313G>T n.334G>T n.1054G>T c.1159G>T (p.Val387Phe) c.1513G>T (p.Val505Phe) | |
| 11 | g.75196588T>A | CA381871231 | SLCO2B1 | c.1508T>A (p.Val503Asp) c.1442T>A (p.Val481Asp) c.827T>A (p.Val276Asp) c.1076T>A (p.Val359Asp) n.314T>A n.335T>A n.1055T>A c.1160T>A (p.Val387Asp) c.1514T>A (p.Val505Asp) | |
| 11 | g.75196588T>C | CA381871232 | SLCO2B1 | c.1508T>C (p.Val503Ala) c.1442T>C (p.Val481Ala) c.827T>C (p.Val276Ala) c.1076T>C (p.Val359Ala) n.314T>C n.335T>C n.1055T>C c.1160T>C (p.Val387Ala) c.1514T>C (p.Val505Ala) | |
| 11 | g.75196588T>G | CA381871233 | SLCO2B1 | c.1508T>G (p.Val503Gly) c.1442T>G (p.Val481Gly) c.827T>G (p.Val276Gly) c.1076T>G (p.Val359Gly) n.314T>G n.335T>G n.1055T>G c.1160T>G (p.Val387Gly) c.1514T>G (p.Val505Gly) | |
| 11 | g.75196589C>A | CA475707662 | SLCO2B1 | c.1509C>A (p.Val503=) c.1443C>A (p.Val481=) c.828C>A (p.Val276=) c.1077C>A (p.Val359=) n.315C>A n.336C>A n.1056C>A c.1161C>A (p.Val387=) c.1515C>A (p.Val505=) | gnomAD v4 |
| 11 | g.75196589C>G | CA475707664 | SLCO2B1 | c.1509C>G (p.Val503=) c.1443C>G (p.Val481=) c.828C>G (p.Val276=) c.1077C>G (p.Val359=) n.315C>G n.336C>G n.1056C>G c.1161C>G (p.Val387=) c.1515C>G (p.Val505=) | |
| 11 | g.75196589C>T | CA475707666 | SLCO2B1 | c.1509C>T (p.Val503=) c.1443C>T (p.Val481=) c.828C>T (p.Val276=) c.1077C>T (p.Val359=) n.315C>T n.336C>T n.1056C>T c.1161C>T (p.Val387=) c.1515C>T (p.Val505=) | |
| 11 | g.75196590T>A | CA381871236 | SLCO2B1 | c.1510T>A (p.Cys504Ser) c.1444T>A (p.Cys482Ser) c.829T>A (p.Cys277Ser) c.1078T>A (p.Cys360Ser) n.316T>A n.337T>A n.1057T>A c.1162T>A (p.Cys388Ser) c.1516T>A (p.Cys506Ser) | |
| 11 | g.75196590T>C | CA381871235 | SLCO2B1 | c.1510T>C (p.Cys504Arg) c.1444T>C (p.Cys482Arg) c.829T>C (p.Cys277Arg) c.1078T>C (p.Cys360Arg) n.316T>C n.337T>C n.1057T>C c.1162T>C (p.Cys388Arg) c.1516T>C (p.Cys506Arg) | |
| 11 | g.75196590T>G | CA381871234 | SLCO2B1 | c.1510T>G (p.Cys504Gly) c.1444T>G (p.Cys482Gly) c.829T>G (p.Cys277Gly) c.1078T>G (p.Cys360Gly) n.316T>G n.337T>G n.1057T>G c.1162T>G (p.Cys388Gly) c.1516T>G (p.Cys506Gly) | |
| 11 | g.75196591G>A | CA381871237 | SLCO2B1 | c.1511G>A (p.Cys504Tyr) c.1445G>A (p.Cys482Tyr) c.830G>A (p.Cys277Tyr) c.1079G>A (p.Cys360Tyr) n.317G>A n.338G>A n.1058G>A c.1163G>A (p.Cys388Tyr) c.1517G>A (p.Cys506Tyr) | dbSNP |
| 11 | g.75196591G>C | CA381871238 | SLCO2B1 | c.1511G>C (p.Cys504Ser) c.1445G>C (p.Cys482Ser) c.830G>C (p.Cys277Ser) c.1079G>C (p.Cys360Ser) n.317G>C n.338G>C n.1058G>C c.1163G>C (p.Cys388Ser) c.1517G>C (p.Cys506Ser) | |
| 11 | g.75196591G= | CA1983218024 | SLCO2B1 | c.1511G= (p.Cys504=) c.1445G= (p.Cys482=) c.830G= (p.Cys277=) c.1079G= (p.Cys360=) n.317G= n.338G= n.1058G= c.1163G= (p.Cys388=) c.1517G= (p.Cys506=) | |
| 11 | g.75196591G>T | CA381871239 | SLCO2B1 | c.1511G>T (p.Cys504Phe) c.1445G>T (p.Cys482Phe) c.830G>T (p.Cys277Phe) c.1079G>T (p.Cys360Phe) n.317G>T n.338G>T n.1058G>T c.1163G>T (p.Cys388Phe) c.1517G>T (p.Cys506Phe) | |
| 11 | g.75196592C>A | CA6188414 | SLCO2B1 | c.1512C>A (p.Cys504Ter) c.1446C>A (p.Cys482Ter) c.831C>A (p.Cys277Ter) c.1080C>A (p.Cys360Ter) n.318C>A n.339C>A n.1059C>A c.1164C>A (p.Cys388Ter) c.1518C>A (p.Cys506Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75196592C= | CA1983218025 | SLCO2B1 | c.1512C= (p.Cys504=) c.1446C= (p.Cys482=) c.831C= (p.Cys277=) c.1080C= (p.Cys360=) n.318C= n.339C= n.1059C= c.1164C= (p.Cys388=) c.1518C= (p.Cys506=) | |
| 11 | g.75196592C>G | CA381871240 | SLCO2B1 | c.1512C>G (p.Cys504Trp) c.1446C>G (p.Cys482Trp) c.831C>G (p.Cys277Trp) c.1080C>G (p.Cys360Trp) n.318C>G n.339C>G n.1059C>G c.1164C>G (p.Cys388Trp) c.1518C>G (p.Cys506Trp) | |
| 11 | g.75196592C>T | CA6188413 | SLCO2B1 | c.1512C>T (p.Cys504=) c.1446C>T (p.Cys482=) c.831C>T (p.Cys277=) c.1080C>T (p.Cys360=) n.318C>T n.339C>T n.1059C>T c.1164C>T (p.Cys388=) c.1518C>T (p.Cys506=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75196593G>A | CA224629896 | SLCO2B1 | c.1513G>A (p.Asp505Asn) c.1447G>A (p.Asp483Asn) c.832G>A (p.Asp278Asn) c.1081G>A (p.Asp361Asn) n.319G>A n.340G>A n.1060G>A c.1165G>A (p.Asp389Asn) c.1519G>A (p.Asp507Asn) | dbSNP gnomAD v4 |
| 11 | g.75196593G>C | CA381871241 | SLCO2B1 | c.1513G>C (p.Asp505His) c.1447G>C (p.Asp483His) c.832G>C (p.Asp278His) c.1081G>C (p.Asp361His) n.319G>C n.340G>C n.1060G>C c.1165G>C (p.Asp389His) c.1519G>C (p.Asp507His) | gnomAD v4 |
| 11 | g.75196593G= | CA1983218026 | SLCO2B1 | c.1513G= (p.Asp505=) c.1447G= (p.Asp483=) c.832G= (p.Asp278=) c.1081G= (p.Asp361=) n.319G= n.340G= n.1060G= c.1165G= (p.Asp389=) c.1519G= (p.Asp507=) | |
| 11 | g.75196593G>T | CA381871242 | SLCO2B1 | c.1513G>T (p.Asp505Tyr) c.1447G>T (p.Asp483Tyr) c.832G>T (p.Asp278Tyr) c.1081G>T (p.Asp361Tyr) n.319G>T n.340G>T n.1060G>T c.1165G>T (p.Asp389Tyr) c.1519G>T (p.Asp507Tyr) | |
| 11 | g.75196594A>C | CA381871243 | SLCO2B1 | c.1514A>C (p.Asp505Ala) c.1448A>C (p.Asp483Ala) c.833A>C (p.Asp278Ala) c.1082A>C (p.Asp361Ala) n.320A>C n.341A>C n.1061A>C c.1166A>C (p.Asp389Ala) c.1520A>C (p.Asp507Ala) | |
| 11 | g.75196594A>G | CA381871244 | SLCO2B1 | c.1514A>G (p.Asp505Gly) c.1448A>G (p.Asp483Gly) c.833A>G (p.Asp278Gly) c.1082A>G (p.Asp361Gly) n.320A>G n.341A>G n.1061A>G c.1166A>G (p.Asp389Gly) c.1520A>G (p.Asp507Gly) | gnomAD v4 |
| 11 | g.75196594A>T | CA381871245 | SLCO2B1 | c.1514A>T (p.Asp505Val) c.1448A>T (p.Asp483Val) c.833A>T (p.Asp278Val) c.1082A>T (p.Asp361Val) n.320A>T n.341A>T n.1061A>T c.1166A>T (p.Asp389Val) c.1520A>T (p.Asp507Val) | |
| 11 | g.75196595C>A | CA381871246 | SLCO2B1 | c.1515C>A (p.Asp505Glu) c.1449C>A (p.Asp483Glu) c.834C>A (p.Asp278Glu) c.1083C>A (p.Asp361Glu) n.321C>A n.342C>A n.1062C>A c.1167C>A (p.Asp389Glu) c.1521C>A (p.Asp507Glu) | |
| 11 | g.75196595C>G | CA381871247 | SLCO2B1 | c.1515C>G (p.Asp505Glu) c.1449C>G (p.Asp483Glu) c.834C>G (p.Asp278Glu) c.1083C>G (p.Asp361Glu) n.321C>G n.342C>G n.1062C>G c.1167C>G (p.Asp389Glu) c.1521C>G (p.Asp507Glu) | |
| 11 | g.75196595C>T | CA475707686 | SLCO2B1 | c.1515C>T (p.Asp505=) c.1449C>T (p.Asp483=) c.834C>T (p.Asp278=) c.1083C>T (p.Asp361=) n.321C>T n.342C>T n.1062C>T c.1167C>T (p.Asp389=) c.1521C>T (p.Asp507=) | gnomAD v4 |
| 11 | g.75196596C>A | CA381871249 | SLCO2B1 | c.1516C>A (p.Pro506Thr) c.1450C>A (p.Pro484Thr) c.835C>A (p.Pro279Thr) c.1084C>A (p.Pro362Thr) n.322C>A n.343C>A n.1063C>A c.1168C>A (p.Pro390Thr) c.1522C>A (p.Pro508Thr) | |
| 11 | g.75196596C>G | CA381871250 | SLCO2B1 | c.1516C>G (p.Pro506Ala) c.1450C>G (p.Pro484Ala) c.835C>G (p.Pro279Ala) c.1084C>G (p.Pro362Ala) n.322C>G n.343C>G n.1063C>G c.1168C>G (p.Pro390Ala) c.1522C>G (p.Pro508Ala) | |
| 11 | g.75196596C>T | CA381871248 | SLCO2B1 | c.1516C>T (p.Pro506Ser) c.1450C>T (p.Pro484Ser) c.835C>T (p.Pro279Ser) c.1084C>T (p.Pro362Ser) n.322C>T n.343C>T n.1063C>T c.1168C>T (p.Pro390Ser) c.1522C>T (p.Pro508Ser) | gnomAD v4 |
| 11 | g.75196597C>A | CA381871251 | SLCO2B1 | c.1517C>A (p.Pro506His) c.1451C>A (p.Pro484His) c.836C>A (p.Pro279His) c.1085C>A (p.Pro362His) n.323C>A n.344C>A n.1064C>A c.1169C>A (p.Pro390His) c.1523C>A (p.Pro508His) | gnomAD v4 |
| 11 | g.75196597C= | CA1983218027 | SLCO2B1 | c.1517C= (p.Pro506=) c.1451C= (p.Pro484=) c.836C= (p.Pro279=) c.1085C= (p.Pro362=) n.323C= n.344C= n.1064C= c.1169C= (p.Pro390=) c.1523C= (p.Pro508=) | |
| 11 | g.75196597C>G | CA381871252 | SLCO2B1 | c.1517C>G (p.Pro506Arg) c.1451C>G (p.Pro484Arg) c.836C>G (p.Pro279Arg) c.1085C>G (p.Pro362Arg) n.323C>G n.344C>G n.1064C>G c.1169C>G (p.Pro390Arg) c.1523C>G (p.Pro508Arg) | |
| 11 | g.75196597C>T | CA381871253 | SLCO2B1 | c.1517C>T (p.Pro506Leu) c.1451C>T (p.Pro484Leu) c.836C>T (p.Pro279Leu) c.1085C>T (p.Pro362Leu) n.323C>T n.344C>T n.1064C>T c.1169C>T (p.Pro390Leu) c.1523C>T (p.Pro508Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.75196598C>A | CA475707697 | SLCO2B1 | c.1518C>A (p.Pro506=) c.1452C>A (p.Pro484=) c.837C>A (p.Pro279=) c.1086C>A (p.Pro362=) n.324C>A n.345C>A n.1065C>A c.1170C>A (p.Pro390=) c.1524C>A (p.Pro508=) | |
| 11 | g.75196598C= | CA1983218028 | SLCO2B1 | c.1518C= (p.Pro506=) c.1452C= (p.Pro484=) c.837C= (p.Pro279=) c.1086C= (p.Pro362=) n.324C= n.345C= n.1065C= c.1170C= (p.Pro390=) c.1524C= (p.Pro508=) | |
| 11 | g.75196598C>G | CA475707699 | SLCO2B1 | c.1518C>G (p.Pro506=) c.1452C>G (p.Pro484=) c.837C>G (p.Pro279=) c.1086C>G (p.Pro362=) n.324C>G n.345C>G n.1065C>G c.1170C>G (p.Pro390=) c.1524C>G (p.Pro508=) | |
| 11 | g.75196598C>T | CA6188415 | SLCO2B1 | c.1518C>T (p.Pro506=) c.1452C>T (p.Pro484=) c.837C>T (p.Pro279=) c.1086C>T (p.Pro362=) n.324C>T n.345C>T n.1065C>T c.1170C>T (p.Pro390=) c.1524C>T (p.Pro508=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75196599A>C | CA381871254 | SLCO2B1 | c.1519A>C (p.Ser507Arg) c.1453A>C (p.Ser485Arg) c.838A>C (p.Ser280Arg) c.1087A>C (p.Ser363Arg) n.325A>C n.346A>C n.1066A>C c.1171A>C (p.Ser391Arg) c.1525A>C (p.Ser509Arg) | |
| 11 | g.75196599A>G | CA381871255 | SLCO2B1 | c.1519A>G (p.Ser507Gly) c.1453A>G (p.Ser485Gly) c.838A>G (p.Ser280Gly) c.1087A>G (p.Ser363Gly) n.325A>G n.346A>G n.1066A>G c.1171A>G (p.Ser391Gly) c.1525A>G (p.Ser509Gly) | |
| 11 | g.75196599A>T | CA381871256 | SLCO2B1 | c.1519A>T (p.Ser507Cys) c.1453A>T (p.Ser485Cys) c.838A>T (p.Ser280Cys) c.1087A>T (p.Ser363Cys) n.325A>T n.346A>T n.1066A>T c.1171A>T (p.Ser391Cys) c.1525A>T (p.Ser509Cys) | |
| 11 | g.75196600G>A | CA381871257 | SLCO2B1 | c.1520G>A (p.Ser507Asn) c.1454G>A (p.Ser485Asn) c.839G>A (p.Ser280Asn) c.1088G>A (p.Ser363Asn) n.326G>A n.347G>A n.1067G>A c.1172G>A (p.Ser391Asn) c.1526G>A (p.Ser509Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.75196600G>C | CA381871258 | SLCO2B1 | c.1520G>C (p.Ser507Thr) c.1454G>C (p.Ser485Thr) c.839G>C (p.Ser280Thr) c.1088G>C (p.Ser363Thr) n.326G>C n.347G>C n.1067G>C c.1172G>C (p.Ser391Thr) c.1526G>C (p.Ser509Thr) | |
| 11 | g.75196600G= | CA1983218029 | SLCO2B1 | c.1520G= (p.Ser507=) c.1454G= (p.Ser485=) c.839G= (p.Ser280=) c.1088G= (p.Ser363=) n.326G= n.347G= n.1067G= c.1172G= (p.Ser391=) c.1526G= (p.Ser509=) | |
| 11 | g.75196600G>T | CA381871259 | SLCO2B1 | c.1520G>T (p.Ser507Ile) c.1454G>T (p.Ser485Ile) c.839G>T (p.Ser280Ile) c.1088G>T (p.Ser363Ile) n.326G>T n.347G>T n.1067G>T c.1172G>T (p.Ser391Ile) c.1526G>T (p.Ser509Ile) | |
| 11 | g.75196601C>A | CA381871260 | SLCO2B1 | c.1521C>A (p.Ser507Arg) c.1455C>A (p.Ser485Arg) c.840C>A (p.Ser280Arg) c.1089C>A (p.Ser363Arg) n.327C>A n.348C>A n.1068C>A c.1173C>A (p.Ser391Arg) c.1527C>A (p.Ser509Arg) | |
| 11 | g.75196601C>G | CA381871261 | SLCO2B1 | c.1521C>G (p.Ser507Arg) c.1455C>G (p.Ser485Arg) c.840C>G (p.Ser280Arg) c.1089C>G (p.Ser363Arg) n.327C>G n.348C>G n.1068C>G c.1173C>G (p.Ser391Arg) c.1527C>G (p.Ser509Arg) | |
| 11 | g.75196601C>T | CA475707709 | SLCO2B1 | c.1521C>T (p.Ser507=) c.1455C>T (p.Ser485=) c.840C>T (p.Ser280=) c.1089C>T (p.Ser363=) n.327C>T n.348C>T n.1068C>T c.1173C>T (p.Ser391=) c.1527C>T (p.Ser509=) | |
| 11 | g.75196602A>C | CA381871264 | SLCO2B1 | c.1522A>C (p.Thr508Pro) c.1456A>C (p.Thr486Pro) c.841A>C (p.Thr281Pro) c.1090A>C (p.Thr364Pro) n.328A>C n.349A>C n.1069A>C c.1174A>C (p.Thr392Pro) c.1528A>C (p.Thr510Pro) | |
| 11 | g.75196602A>G | CA381871262 | SLCO2B1 | c.1522A>G (p.Thr508Ala) c.1456A>G (p.Thr486Ala) c.841A>G (p.Thr281Ala) c.1090A>G (p.Thr364Ala) n.328A>G n.349A>G n.1069A>G c.1174A>G (p.Thr392Ala) c.1528A>G (p.Thr510Ala) | |
| 11 | g.75196602A>T | CA381871263 | SLCO2B1 | c.1522A>T (p.Thr508Ser) c.1456A>T (p.Thr486Ser) c.841A>T (p.Thr281Ser) c.1090A>T (p.Thr364Ser) n.328A>T n.349A>T n.1069A>T c.1174A>T (p.Thr392Ser) c.1528A>T (p.Thr510Ser) | gnomAD v4 |
| 11 | g.75196603C>A | CA381871265 | SLCO2B1 | c.1523C>A (p.Thr508Asn) c.1457C>A (p.Thr486Asn) c.842C>A (p.Thr281Asn) c.1091C>A (p.Thr364Asn) n.329C>A n.350C>A n.1070C>A c.1175C>A (p.Thr392Asn) c.1529C>A (p.Thr510Asn) | |
| 11 | g.75196603C>G | CA381871266 | SLCO2B1 | c.1523C>G (p.Thr508Ser) c.1457C>G (p.Thr486Ser) c.842C>G (p.Thr281Ser) c.1091C>G (p.Thr364Ser) n.329C>G n.350C>G n.1070C>G c.1175C>G (p.Thr392Ser) c.1529C>G (p.Thr510Ser) | |
| 11 | g.75196603C>T | CA381871267 | SLCO2B1 | c.1523C>T (p.Thr508Ile) c.1457C>T (p.Thr486Ile) c.842C>T (p.Thr281Ile) c.1091C>T (p.Thr364Ile) n.329C>T n.350C>T n.1070C>T c.1175C>T (p.Thr392Ile) c.1529C>T (p.Thr510Ile) | |
| 11 | g.75196604T>A | CA475707718 | SLCO2B1 | c.1524T>A (p.Thr508=) c.1458T>A (p.Thr486=) c.843T>A (p.Thr281=) c.1092T>A (p.Thr364=) n.330T>A n.351T>A n.1071T>A c.1176T>A (p.Thr392=) c.1530T>A (p.Thr510=) | |
| 11 | g.75196604T>C | CA475707720 | SLCO2B1 | c.1524T>C (p.Thr508=) c.1458T>C (p.Thr486=) c.843T>C (p.Thr281=) c.1092T>C (p.Thr364=) n.330T>C n.351T>C n.1071T>C c.1176T>C (p.Thr392=) c.1530T>C (p.Thr510=) | |
| 11 | g.75196604T>G | CA475707722 | SLCO2B1 | c.1524T>G (p.Thr508=) c.1458T>G (p.Thr486=) c.843T>G (p.Thr281=) c.1092T>G (p.Thr364=) n.330T>G n.351T>G n.1071T>G c.1176T>G (p.Thr392=) c.1530T>G (p.Thr510=) | |
| 11 | g.75196605C>A | CA381871268 | SLCO2B1 | c.1525C>A (p.Arg509Ser) c.1459C>A (p.Arg487Ser) c.844C>A (p.Arg282Ser) c.1093C>A (p.Arg365Ser) n.331C>A n.352C>A n.1072C>A c.1177C>A (p.Arg393Ser) c.1531C>A (p.Arg511Ser) | |
| 11 | g.75196605C= | CA1983218030 | SLCO2B1 | c.1525C= (p.Arg509=) c.1459C= (p.Arg487=) c.844C= (p.Arg282=) c.1093C= (p.Arg365=) n.331C= n.352C= n.1072C= c.1177C= (p.Arg393=) c.1531C= (p.Arg511=) | |
| 11 | g.75196605C>G | CA381871269 | SLCO2B1 | c.1525C>G (p.Arg509Gly) c.1459C>G (p.Arg487Gly) c.844C>G (p.Arg282Gly) c.1093C>G (p.Arg365Gly) n.331C>G n.352C>G n.1072C>G c.1177C>G (p.Arg393Gly) c.1531C>G (p.Arg511Gly) | gnomAD v4 |
| 11 | g.75196605C>T | CA381871270 | SLCO2B1 | c.1525C>T (p.Arg509Cys) c.1459C>T (p.Arg487Cys) c.844C>T (p.Arg282Cys) c.1093C>T (p.Arg365Cys) n.331C>T n.352C>T n.1072C>T c.1177C>T (p.Arg393Cys) c.1531C>T (p.Arg511Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.75196606G>A | CA6188416 | SLCO2B1 | c.1526G>A (p.Arg509His) c.1460G>A (p.Arg487His) c.845G>A (p.Arg282His) c.1094G>A (p.Arg365His) n.332G>A n.353G>A n.1073G>A c.1178G>A (p.Arg393His) c.1532G>A (p.Arg511His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75196606G>C | CA381871271 | SLCO2B1 | c.1526G>C (p.Arg509Pro) c.1460G>C (p.Arg487Pro) c.845G>C (p.Arg282Pro) c.1094G>C (p.Arg365Pro) n.332G>C n.353G>C n.1073G>C c.1178G>C (p.Arg393Pro) c.1532G>C (p.Arg511Pro) | dbSNP |
| 11 | g.75196606G= | CA1983218031 | SLCO2B1 | c.1526G= (p.Arg509=) c.1460G= (p.Arg487=) c.845G= (p.Arg282=) c.1094G= (p.Arg365=) n.332G= n.353G= n.1073G= c.1178G= (p.Arg393=) c.1532G= (p.Arg511=) | |
| 11 | g.75196606G>T | CA381871272 | SLCO2B1 | c.1526G>T (p.Arg509Leu) c.1460G>T (p.Arg487Leu) c.845G>T (p.Arg282Leu) c.1094G>T (p.Arg365Leu) n.332G>T n.353G>T n.1073G>T c.1178G>T (p.Arg393Leu) c.1532G>T (p.Arg511Leu) | |
| 11 | g.75196607T>A | CA475707730 | SLCO2B1 | c.1527T>A (p.Arg509=) c.1461T>A (p.Arg487=) c.846T>A (p.Arg282=) c.1095T>A (p.Arg365=) n.333T>A n.354T>A n.1074T>A c.1179T>A (p.Arg393=) c.1533T>A (p.Arg511=) | |
| 11 | g.75196607T>C | CA475707732 | SLCO2B1 | c.1527T>C (p.Arg509=) c.1461T>C (p.Arg487=) c.846T>C (p.Arg282=) c.1095T>C (p.Arg365=) n.333T>C n.354T>C n.1074T>C c.1179T>C (p.Arg393=) c.1533T>C (p.Arg511=) | gnomAD v4 |
| 11 | g.75196607T>G | CA475707734 | SLCO2B1 | c.1527T>G (p.Arg509=) c.1461T>G (p.Arg487=) c.846T>G (p.Arg282=) c.1095T>G (p.Arg365=) n.333T>G n.354T>G n.1074T>G c.1179T>G (p.Arg393=) c.1533T>G (p.Arg511=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75196607T= | CA1983218032 | SLCO2B1 | c.1527T= (p.Arg509=) c.1461T= (p.Arg487=) c.846T= (p.Arg282=) c.1095T= (p.Arg365=) n.333T= n.354T= n.1074T= c.1179T= (p.Arg393=) c.1533T= (p.Arg511=) | |
| 11 | g.75196608G>A | CA381871273 | SLCO2B1 | c.1528G>A (p.Val510Met) c.1462G>A (p.Val488Met) c.847G>A (p.Val283Met) c.1096G>A (p.Val366Met) n.334G>A n.355G>A n.1075G>A c.1180G>A (p.Val394Met) c.1534G>A (p.Val512Met) | |
| 11 | g.75196608G>C | CA381871274 | SLCO2B1 | c.1528G>C (p.Val510Leu) c.1462G>C (p.Val488Leu) c.847G>C (p.Val283Leu) c.1096G>C (p.Val366Leu) n.334G>C n.355G>C n.1075G>C c.1180G>C (p.Val394Leu) c.1534G>C (p.Val512Leu) | |
| 11 | g.75196608G>T | CA381871275 | SLCO2B1 | c.1528G>T (p.Val510Leu) c.1462G>T (p.Val488Leu) c.847G>T (p.Val283Leu) c.1096G>T (p.Val366Leu) n.334G>T n.355G>T n.1075G>T c.1180G>T (p.Val394Leu) c.1534G>T (p.Val512Leu) | |
| 11 | g.75196609T>A | CA381871277 | SLCO2B1 | c.1529T>A (p.Val510Glu) c.1463T>A (p.Val488Glu) c.848T>A (p.Val283Glu) c.1097T>A (p.Val366Glu) n.335T>A n.356T>A n.1076T>A c.1181T>A (p.Val394Glu) c.1535T>A (p.Val512Glu) | |
| 11 | g.75196609T>C | CA381871278 | SLCO2B1 | c.1529T>C (p.Val510Ala) c.1463T>C (p.Val488Ala) c.848T>C (p.Val283Ala) c.1097T>C (p.Val366Ala) n.335T>C n.356T>C n.1076T>C c.1181T>C (p.Val394Ala) c.1535T>C (p.Val512Ala) | |
| 11 | g.75196609T>G | CA381871276 | SLCO2B1 | c.1529T>G (p.Val510Gly) c.1463T>G (p.Val488Gly) c.848T>G (p.Val283Gly) c.1097T>G (p.Val366Gly) n.335T>G n.356T>G n.1076T>G c.1181T>G (p.Val394Gly) c.1535T>G (p.Val512Gly) | |
| 11 | g.75196610G>A | CA6188417 | SLCO2B1 | c.1530G>A (p.Val510=) c.1464G>A (p.Val488=) c.849G>A (p.Val283=) c.1098G>A (p.Val366=) n.336G>A n.357G>A n.1077G>A c.1182G>A (p.Val394=) c.1536G>A (p.Val512=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75196610G>C | CA475707746 | SLCO2B1 | c.1530G>C (p.Val510=) c.1464G>C (p.Val488=) c.849G>C (p.Val283=) c.1098G>C (p.Val366=) n.336G>C n.357G>C n.1077G>C c.1182G>C (p.Val394=) c.1536G>C (p.Val512=) | |
| 11 | g.75196610G= | CA1983218033 | SLCO2B1 | c.1530G= (p.Val510=) c.1464G= (p.Val488=) c.849G= (p.Val283=) c.1098G= (p.Val366=) n.336G= n.357G= n.1077G= c.1182G= (p.Val394=) c.1536G= (p.Val512=) | |
| 11 | g.75196610G>T | CA475707744 | SLCO2B1 | c.1530G>T (p.Val510=) c.1464G>T (p.Val488=) c.849G>T (p.Val283=) c.1098G>T (p.Val366=) n.336G>T n.357G>T n.1077G>T c.1182G>T (p.Val394=) c.1536G>T (p.Val512=) | |
| 11 | g.75196611G>A | CA381871279 | SLCO2B1 | c.1531G>A (p.Glu511Lys) c.1465G>A (p.Glu489Lys) c.850G>A (p.Glu284Lys) c.1099G>A (p.Glu367Lys) n.337G>A n.358G>A n.1078G>A c.1183G>A (p.Glu395Lys) c.1537G>A (p.Glu513Lys) | |
| 11 | g.75196611G>C | CA381871281 | SLCO2B1 | c.1531G>C (p.Glu511Gln) c.1465G>C (p.Glu489Gln) c.850G>C (p.Glu284Gln) c.1099G>C (p.Glu367Gln) n.337G>C n.358G>C n.1078G>C c.1183G>C (p.Glu395Gln) c.1537G>C (p.Glu513Gln) | |
| 11 | g.75196611G>T | CA381871280 | SLCO2B1 | c.1531G>T (p.Glu511Ter) c.1465G>T (p.Glu489Ter) c.850G>T (p.Glu284Ter) c.1099G>T (p.Glu367Ter) n.337G>T n.358G>T n.1078G>T c.1183G>T (p.Glu395Ter) c.1537G>T (p.Glu513Ter) | |
| 11 | g.75196612A>C | CA381871282 | SLCO2B1 | c.1532A>C (p.Glu511Ala) c.1466A>C (p.Glu489Ala) c.851A>C (p.Glu284Ala) c.1100A>C (p.Glu367Ala) n.338A>C n.359A>C n.1079A>C c.1184A>C (p.Glu395Ala) c.1538A>C (p.Glu513Ala) | |
| 11 | g.75196612A>G | CA381871283 | SLCO2B1 | c.1532A>G (p.Glu511Gly) c.1466A>G (p.Glu489Gly) c.851A>G (p.Glu284Gly) c.1100A>G (p.Glu367Gly) n.338A>G n.359A>G n.1079A>G c.1184A>G (p.Glu395Gly) c.1538A>G (p.Glu513Gly) | |
| 11 | g.75196612A>T | CA381871284 | SLCO2B1 | c.1532A>T (p.Glu511Val) c.1466A>T (p.Glu489Val) c.851A>T (p.Glu284Val) c.1100A>T (p.Glu367Val) n.338A>T n.359A>T n.1079A>T c.1184A>T (p.Glu395Val) c.1538A>T (p.Glu513Val) | |
| 11 | g.75196613A= | CA1983218034 | SLCO2B1 | c.1533A= (p.Glu511=) c.1467A= (p.Glu489=) c.852A= (p.Glu284=) c.1101A= (p.Glu367=) n.339A= n.360A= n.1080A= c.1185A= (p.Glu395=) c.1539A= (p.Glu513=) | |
| 11 | g.75196613A>C | CA381871285 | SLCO2B1 | c.1533A>C (p.Glu511Asp) c.1467A>C (p.Glu489Asp) c.852A>C (p.Glu284Asp) c.1101A>C (p.Glu367Asp) n.339A>C n.360A>C n.1080A>C c.1185A>C (p.Glu395Asp) c.1539A>C (p.Glu513Asp) | |
| 11 | g.75196613A>G | CA475707756 | SLCO2B1 | c.1533A>G (p.Glu511=) c.1467A>G (p.Glu489=) c.852A>G (p.Glu284=) c.1101A>G (p.Glu367=) n.339A>G n.360A>G n.1080A>G c.1185A>G (p.Glu395=) c.1539A>G (p.Glu513=) | dbSNP |
| 11 | g.75196613A>T | CA381871286 | SLCO2B1 | c.1533A>T (p.Glu511Asp) c.1467A>T (p.Glu489Asp) c.852A>T (p.Glu284Asp) c.1101A>T (p.Glu367Asp) n.339A>T n.360A>T n.1080A>T c.1185A>T (p.Glu395Asp) c.1539A>T (p.Glu513Asp) | |
| 11 | g.75196614T>A | CA381871287 | SLCO2B1 | c.1534T>A (p.Tyr512Asn) c.1468T>A (p.Tyr490Asn) c.853T>A (p.Tyr285Asn) c.1102T>A (p.Tyr368Asn) n.340T>A n.361T>A n.1081T>A c.1186T>A (p.Tyr396Asn) c.1540T>A (p.Tyr514Asn) | |
| 11 | g.75196614T>C | CA381871288 | SLCO2B1 | c.1534T>C (p.Tyr512His) c.1468T>C (p.Tyr490His) c.853T>C (p.Tyr285His) c.1102T>C (p.Tyr368His) n.340T>C n.361T>C n.1081T>C c.1186T>C (p.Tyr396His) c.1540T>C (p.Tyr514His) | |
| 11 | g.75196614T>G | CA381871289 | SLCO2B1 | c.1534T>G (p.Tyr512Asp) c.1468T>G (p.Tyr490Asp) c.853T>G (p.Tyr285Asp) c.1102T>G (p.Tyr368Asp) n.340T>G n.361T>G n.1081T>G c.1186T>G (p.Tyr396Asp) c.1540T>G (p.Tyr514Asp) | |
| 11 | g.75196615A>C | CA381871290 | SLCO2B1 | c.1535A>C (p.Tyr512Ser) c.1469A>C (p.Tyr490Ser) c.854A>C (p.Tyr285Ser) c.1103A>C (p.Tyr368Ser) n.341A>C n.362A>C n.1082A>C c.1187A>C (p.Tyr396Ser) c.1541A>C (p.Tyr514Ser) | |
| 11 | g.75196615A>G | CA381871291 | SLCO2B1 | c.1535A>G (p.Tyr512Cys) c.1469A>G (p.Tyr490Cys) c.854A>G (p.Tyr285Cys) c.1103A>G (p.Tyr368Cys) n.341A>G n.362A>G n.1082A>G c.1187A>G (p.Tyr396Cys) c.1541A>G (p.Tyr514Cys) | gnomAD v4 |
| 11 | g.75196615A>T | CA381871292 | SLCO2B1 | c.1535A>T (p.Tyr512Phe) c.1469A>T (p.Tyr490Phe) c.854A>T (p.Tyr285Phe) c.1103A>T (p.Tyr368Phe) n.341A>T n.362A>T n.1082A>T c.1187A>T (p.Tyr396Phe) c.1541A>T (p.Tyr514Phe) | |
| 11 | g.75196616C>A | CA381871293 | SLCO2B1 | c.1536C>A (p.Tyr512Ter) c.1470C>A (p.Tyr490Ter) c.855C>A (p.Tyr285Ter) c.1104C>A (p.Tyr368Ter) n.342C>A n.363C>A n.1083C>A c.1188C>A (p.Tyr396Ter) c.1542C>A (p.Tyr514Ter) | |
| 11 | g.75196616C>G | CA381871294 | SLCO2B1 | c.1536C>G (p.Tyr512Ter) c.1470C>G (p.Tyr490Ter) c.855C>G (p.Tyr285Ter) c.1104C>G (p.Tyr368Ter) n.342C>G n.363C>G n.1083C>G c.1188C>G (p.Tyr396Ter) c.1542C>G (p.Tyr514Ter) | |
| 11 | g.75196616C>T | CA475707767 | SLCO2B1 | c.1536C>T (p.Tyr512=) c.1470C>T (p.Tyr490=) c.855C>T (p.Tyr285=) c.1104C>T (p.Tyr368=) n.342C>T n.363C>T n.1083C>T c.1188C>T (p.Tyr396=) c.1542C>T (p.Tyr514=) | gnomAD v4 |
| 11 | g.75196617A>C | CA381871297 | SLCO2B1 | c.1537A>C (p.Ile513Leu) c.1471A>C (p.Ile491Leu) c.856A>C (p.Ile286Leu) c.1105A>C (p.Ile369Leu) n.343A>C n.364A>C n.1084A>C c.1189A>C (p.Ile397Leu) c.1543A>C (p.Ile515Leu) | |
| 11 | g.75196617A>G | CA381871296 | SLCO2B1 | c.1537A>G (p.Ile513Val) c.1471A>G (p.Ile491Val) c.856A>G (p.Ile286Val) c.1105A>G (p.Ile369Val) n.343A>G n.364A>G n.1084A>G c.1189A>G (p.Ile397Val) c.1543A>G (p.Ile515Val) | |
| 11 | g.75196617A>T | CA381871295 | SLCO2B1 | c.1537A>T (p.Ile513Phe) c.1471A>T (p.Ile491Phe) c.856A>T (p.Ile286Phe) c.1105A>T (p.Ile369Phe) n.343A>T n.364A>T n.1084A>T c.1189A>T (p.Ile397Phe) c.1543A>T (p.Ile515Phe) | |
| 11 | g.75196618T>A | CA381871298 | SLCO2B1 | c.1538T>A (p.Ile513Asn) c.1472T>A (p.Ile491Asn) c.857T>A (p.Ile286Asn) c.1106T>A (p.Ile369Asn) n.344T>A n.365T>A n.1085T>A c.1190T>A (p.Ile397Asn) c.1544T>A (p.Ile515Asn) | |
| 11 | g.75196618T>C | CA381871299 | SLCO2B1 | c.1538T>C (p.Ile513Thr) c.1472T>C (p.Ile491Thr) c.857T>C (p.Ile286Thr) c.1106T>C (p.Ile369Thr) n.344T>C n.365T>C n.1085T>C c.1190T>C (p.Ile397Thr) c.1544T>C (p.Ile515Thr) | |
| 11 | g.75196618T>G | CA381871300 | SLCO2B1 | c.1538T>G (p.Ile513Ser) c.1472T>G (p.Ile491Ser) c.857T>G (p.Ile286Ser) c.1106T>G (p.Ile369Ser) n.344T>G n.365T>G n.1085T>G c.1190T>G (p.Ile397Ser) c.1544T>G (p.Ile515Ser) | |
| 11 | g.75196619C>A | CA475707775 | SLCO2B1 | c.1539C>A (p.Ile513=) c.1473C>A (p.Ile491=) c.858C>A (p.Ile286=) c.1107C>A (p.Ile369=) n.345C>A n.366C>A n.1086C>A c.1191C>A (p.Ile397=) c.1545C>A (p.Ile515=) | |
| 11 | g.75196619C>G | CA381871301 | SLCO2B1 | c.1539C>G (p.Ile513Met) c.1473C>G (p.Ile491Met) c.858C>G (p.Ile286Met) c.1107C>G (p.Ile369Met) n.345C>G n.366C>G n.1086C>G c.1191C>G (p.Ile397Met) c.1545C>G (p.Ile515Met) | |
| 11 | g.75196619C>T | CA475707778 | SLCO2B1 | c.1539C>T (p.Ile513=) c.1473C>T (p.Ile491=) c.858C>T (p.Ile286=) c.1107C>T (p.Ile369=) n.345C>T n.366C>T n.1086C>T c.1191C>T (p.Ile397=) c.1545C>T (p.Ile515=) | |
| 11 | g.75196620A>C | CA381871302 | SLCO2B1 | c.1540A>C (p.Thr514Pro) c.1474A>C (p.Thr492Pro) c.859A>C (p.Thr287Pro) c.1108A>C (p.Thr370Pro) n.346A>C n.367A>C n.1087A>C c.1192A>C (p.Thr398Pro) c.1546A>C (p.Thr516Pro) | |
| 11 | g.75196620A>G | CA381871303 | SLCO2B1 | c.1540A>G (p.Thr514Ala) c.1474A>G (p.Thr492Ala) c.859A>G (p.Thr287Ala) c.1108A>G (p.Thr370Ala) n.346A>G n.367A>G n.1087A>G c.1192A>G (p.Thr398Ala) c.1546A>G (p.Thr516Ala) | |
| 11 | g.75196620A>T | CA381871304 | SLCO2B1 | c.1540A>T (p.Thr514Ser) c.1474A>T (p.Thr492Ser) c.859A>T (p.Thr287Ser) c.1108A>T (p.Thr370Ser) n.346A>T n.367A>T n.1087A>T c.1192A>T (p.Thr398Ser) c.1546A>T (p.Thr516Ser) | |
| 11 | g.75196621C>A | CA381871305 | SLCO2B1 | c.1541C>A (p.Thr514Lys) c.1475C>A (p.Thr492Lys) c.860C>A (p.Thr287Lys) c.1109C>A (p.Thr370Lys) n.347C>A n.368C>A n.1088C>A c.1193C>A (p.Thr398Lys) c.1547C>A (p.Thr516Lys) | |
| 11 | g.75196621C>G | CA381871306 | SLCO2B1 | c.1541C>G (p.Thr514Arg) c.1475C>G (p.Thr492Arg) c.860C>G (p.Thr287Arg) c.1109C>G (p.Thr370Arg) n.347C>G n.368C>G n.1088C>G c.1193C>G (p.Thr398Arg) c.1547C>G (p.Thr516Arg) | |
| 11 | g.75196621C>T | CA381871307 | SLCO2B1 | c.1541C>T (p.Thr514Ile) c.1475C>T (p.Thr492Ile) c.860C>T (p.Thr287Ile) c.1109C>T (p.Thr370Ile) n.347C>T n.368C>T n.1088C>T c.1193C>T (p.Thr398Ile) c.1547C>T (p.Thr516Ile) | |
| 11 | g.75196622A= | CA1983218035 | SLCO2B1 | c.1542A= (p.Thr514=) c.1476A= (p.Thr492=) c.861A= (p.Thr287=) c.1110A= (p.Thr370=) n.348A= n.369A= n.1089A= c.1194A= (p.Thr398=) c.1548A= (p.Thr516=) | |
| 11 | g.75196622A>C | CA475707785 | SLCO2B1 | c.1542A>C (p.Thr514=) c.1476A>C (p.Thr492=) c.861A>C (p.Thr287=) c.1110A>C (p.Thr370=) n.348A>C n.369A>C n.1089A>C c.1194A>C (p.Thr398=) c.1548A>C (p.Thr516=) | dbSNP gnomAD v4 |
| 11 | g.75196622A>G | CA475707787 | SLCO2B1 | c.1542A>G (p.Thr514=) c.1476A>G (p.Thr492=) c.861A>G (p.Thr287=) c.1110A>G (p.Thr370=) n.348A>G n.369A>G n.1089A>G c.1194A>G (p.Thr398=) c.1548A>G (p.Thr516=) | |
| 11 | g.75196622A>T | CA475707789 | SLCO2B1 | c.1542A>T (p.Thr514=) c.1476A>T (p.Thr492=) c.861A>T (p.Thr287=) c.1110A>T (p.Thr370=) n.348A>T n.369A>T n.1089A>T c.1194A>T (p.Thr398=) c.1548A>T (p.Thr516=) | |
| 11 | g.75196623C>A | CA6188418 | SLCO2B1 | c.1543C>A (p.Pro515Thr) c.1477C>A (p.Pro493Thr) c.862C>A (p.Pro288Thr) c.1111C>A (p.Pro371Thr) n.349C>A n.370C>A n.1090C>A c.1195C>A (p.Pro399Thr) c.1549C>A (p.Pro517Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75196623C= | CA1983218036 | SLCO2B1 | c.1543C= (p.Pro515=) c.1477C= (p.Pro493=) c.862C= (p.Pro288=) c.1111C= (p.Pro371=) n.349C= n.370C= n.1090C= c.1195C= (p.Pro399=) c.1549C= (p.Pro517=) | |
| 11 | g.75196623C>G | CA381871308 | SLCO2B1 | c.1543C>G (p.Pro515Ala) c.1477C>G (p.Pro493Ala) c.862C>G (p.Pro288Ala) c.1111C>G (p.Pro371Ala) n.349C>G n.370C>G n.1090C>G c.1195C>G (p.Pro399Ala) c.1549C>G (p.Pro517Ala) | gnomAD v4 |
| 11 | g.75196623C>T | CA6188419 | SLCO2B1 | c.1543C>T (p.Pro515Ser) c.1477C>T (p.Pro493Ser) c.862C>T (p.Pro288Ser) c.1111C>T (p.Pro371Ser) n.349C>T n.370C>T n.1090C>T c.1195C>T (p.Pro399Ser) c.1549C>T (p.Pro517Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.75196624C>A | CA224629916 | SLCO2B1 | c.1544C>A (p.Pro515His) c.1478C>A (p.Pro493His) c.863C>A (p.Pro288His) c.1112C>A (p.Pro371His) n.350C>A n.371C>A n.1091C>A c.1196C>A (p.Pro399His) c.1550C>A (p.Pro517His) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75196624C= | CA1983218037 | SLCO2B1 | c.1544C= (p.Pro515=) c.1478C= (p.Pro493=) c.863C= (p.Pro288=) c.1112C= (p.Pro371=) n.350C= n.371C= n.1091C= c.1196C= (p.Pro399=) c.1550C= (p.Pro517=) | |
| 11 | g.75196624C>G | CA381871310 | SLCO2B1 | c.1544C>G (p.Pro515Arg) c.1478C>G (p.Pro493Arg) c.863C>G (p.Pro288Arg) c.1112C>G (p.Pro371Arg) n.350C>G n.371C>G n.1091C>G c.1196C>G (p.Pro399Arg) c.1550C>G (p.Pro517Arg) | |
| 11 | g.75196624C>T | CA381871309 | SLCO2B1 | c.1544C>T (p.Pro515Leu) c.1478C>T (p.Pro493Leu) c.863C>T (p.Pro288Leu) c.1112C>T (p.Pro371Leu) n.350C>T n.371C>T n.1091C>T c.1196C>T (p.Pro399Leu) c.1550C>T (p.Pro517Leu) | gnomAD v4 |
| 11 | g.75196625C>A | CA475707798 | SLCO2B1 | c.1545C>A (p.Pro515=) c.1479C>A (p.Pro493=) c.864C>A (p.Pro288=) c.1113C>A (p.Pro371=) n.351C>A n.372C>A n.1092C>A c.1197C>A (p.Pro399=) c.1551C>A (p.Pro517=) | |
| 11 | g.75196625C= | CA1983218038 | SLCO2B1 | c.1545C= (p.Pro515=) c.1479C= (p.Pro493=) c.864C= (p.Pro288=) c.1113C= (p.Pro371=) n.351C= n.372C= n.1092C= c.1197C= (p.Pro399=) c.1551C= (p.Pro517=) | |
| 11 | g.75196625C>G | CA475707800 | SLCO2B1 | c.1545C>G (p.Pro515=) c.1479C>G (p.Pro493=) c.864C>G (p.Pro288=) c.1113C>G (p.Pro371=) n.351C>G n.372C>G n.1092C>G c.1197C>G (p.Pro399=) c.1551C>G (p.Pro517=) | |
| 11 | g.75196625C>T | CA475707802 | SLCO2B1 | c.1545C>T (p.Pro515=) c.1479C>T (p.Pro493=) c.864C>T (p.Pro288=) c.1113C>T (p.Pro371=) n.351C>T n.372C>T n.1092C>T c.1197C>T (p.Pro399=) c.1551C>T (p.Pro517=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75196626T>A | CA381871311 | SLCO2B1 | c.1546T>A (p.Cys516Ser) c.1480T>A (p.Cys494Ser) c.865T>A (p.Cys289Ser) c.1114T>A (p.Cys372Ser) n.352T>A n.373T>A n.1093T>A c.1198T>A (p.Cys400Ser) c.1552T>A (p.Cys518Ser) | |
| 11 | g.75196626T>C | CA381871312 | SLCO2B1 | c.1546T>C (p.Cys516Arg) c.1480T>C (p.Cys494Arg) c.865T>C (p.Cys289Arg) c.1114T>C (p.Cys372Arg) n.352T>C n.373T>C n.1093T>C c.1198T>C (p.Cys400Arg) c.1552T>C (p.Cys518Arg) | |
| 11 | g.75196626T>G | CA381871313 | SLCO2B1 | c.1546T>G (p.Cys516Gly) c.1480T>G (p.Cys494Gly) c.865T>G (p.Cys289Gly) c.1114T>G (p.Cys372Gly) n.352T>G n.373T>G n.1093T>G c.1198T>G (p.Cys400Gly) c.1552T>G (p.Cys518Gly) | |
| 11 | g.75196627G>A | CA381871314 | SLCO2B1 | c.1547G>A (p.Cys516Tyr) c.1481G>A (p.Cys494Tyr) c.866G>A (p.Cys289Tyr) c.1115G>A (p.Cys372Tyr) n.353G>A n.374G>A n.1094G>A c.1199G>A (p.Cys400Tyr) c.1553G>A (p.Cys518Tyr) | |
| 11 | g.75196627G>C | CA381871315 | SLCO2B1 | c.1547G>C (p.Cys516Ser) c.1481G>C (p.Cys494Ser) c.866G>C (p.Cys289Ser) c.1115G>C (p.Cys372Ser) n.353G>C n.374G>C n.1094G>C c.1199G>C (p.Cys400Ser) c.1553G>C (p.Cys518Ser) | |
| 11 | g.75196627G>T | CA381871316 | SLCO2B1 | c.1547G>T (p.Cys516Phe) c.1481G>T (p.Cys494Phe) c.866G>T (p.Cys289Phe) c.1115G>T (p.Cys372Phe) n.353G>T n.374G>T n.1094G>T c.1199G>T (p.Cys400Phe) c.1553G>T (p.Cys518Phe) | |
| 11 | g.75196628C>A | CA381871317 | SLCO2B1 | c.1548C>A (p.Cys516Ter) c.1482C>A (p.Cys494Ter) c.867C>A (p.Cys289Ter) c.1116C>A (p.Cys372Ter) n.354C>A n.375C>A n.1095C>A c.1200C>A (p.Cys400Ter) c.1554C>A (p.Cys518Ter) | dbSNP |
| 11 | g.75196628C= | CA1983218039 | SLCO2B1 | c.1548C= (p.Cys516=) c.1482C= (p.Cys494=) c.867C= (p.Cys289=) c.1116C= (p.Cys372=) n.354C= n.375C= n.1095C= c.1200C= (p.Cys400=) c.1554C= (p.Cys518=) | |
| 11 | g.75196628C>G | CA381871318 | SLCO2B1 | c.1548C>G (p.Cys516Trp) c.1482C>G (p.Cys494Trp) c.867C>G (p.Cys289Trp) c.1116C>G (p.Cys372Trp) n.354C>G n.375C>G n.1095C>G c.1200C>G (p.Cys400Trp) c.1554C>G (p.Cys518Trp) | |
| 11 | g.75196628C>T | CA475707812 | SLCO2B1 | c.1548C>T (p.Cys516=) c.1482C>T (p.Cys494=) c.867C>T (p.Cys289=) c.1116C>T (p.Cys372=) n.354C>T n.375C>T n.1095C>T c.1200C>T (p.Cys400=) c.1554C>T (p.Cys518=) | |
| 11 | g.75196629C>A | CA381871319 | SLCO2B1 | c.1549C>A (p.His517Asn) c.1483C>A (p.His495Asn) c.868C>A (p.His290Asn) c.1117C>A (p.His373Asn) n.355C>A n.376C>A n.1096C>A c.1201C>A (p.His401Asn) c.1555C>A (p.His519Asn) | |
| 11 | g.75196629C= | CA1983218040 | SLCO2B1 | c.1549C= (p.His517=) c.1483C= (p.His495=) c.868C= (p.His290=) c.1117C= (p.His373=) n.355C= n.376C= n.1096C= c.1201C= (p.His401=) c.1555C= (p.His519=) | |
| 11 | g.75196629C>G | CA381871320 | SLCO2B1 | c.1549C>G (p.His517Asp) c.1483C>G (p.His495Asp) c.868C>G (p.His290Asp) c.1117C>G (p.His373Asp) n.355C>G n.376C>G n.1096C>G c.1201C>G (p.His401Asp) c.1555C>G (p.His519Asp) | |
| 11 | g.75196629C>T | CA381871321 | SLCO2B1 | c.1549C>T (p.His517Tyr) c.1483C>T (p.His495Tyr) c.868C>T (p.His290Tyr) c.1117C>T (p.His373Tyr) n.355C>T n.376C>T n.1096C>T c.1201C>T (p.His401Tyr) c.1555C>T (p.His519Tyr) | dbSNP gnomAD v2 |
| 11 | g.75196630A>C | CA381871324 | SLCO2B1 | c.1550A>C (p.His517Pro) c.1484A>C (p.His495Pro) c.869A>C (p.His290Pro) c.1118A>C (p.His373Pro) n.356A>C n.377A>C n.1097A>C c.1202A>C (p.His401Pro) c.1556A>C (p.His519Pro) | |
| 11 | g.75196630A>G | CA381871323 | SLCO2B1 | c.1550A>G (p.His517Arg) c.1484A>G (p.His495Arg) c.869A>G (p.His290Arg) c.1118A>G (p.His373Arg) n.356A>G n.377A>G n.1097A>G c.1202A>G (p.His401Arg) c.1556A>G (p.His519Arg) | |
| 11 | g.75196630A>T | CA381871322 | SLCO2B1 | c.1550A>T (p.His517Leu) c.1484A>T (p.His495Leu) c.869A>T (p.His290Leu) c.1118A>T (p.His373Leu) n.356A>T n.377A>T n.1097A>T c.1202A>T (p.His401Leu) c.1556A>T (p.His519Leu) | |
| 11 | g.75196631C>A | CA381871325 | SLCO2B1 | c.1551C>A (p.His517Gln) c.1485C>A (p.His495Gln) c.870C>A (p.His290Gln) c.1119C>A (p.His373Gln) n.357C>A n.378C>A n.1098C>A c.1203C>A (p.His401Gln) c.1557C>A (p.His519Gln) | |
| 11 | g.75196631C= | CA1983218041 | SLCO2B1 | c.1551C= (p.His517=) c.1485C= (p.His495=) c.870C= (p.His290=) c.1119C= (p.His373=) n.357C= n.378C= n.1098C= c.1203C= (p.His401=) c.1557C= (p.His519=) | |
| 11 | g.75196631C>G | CA381871326 | SLCO2B1 | c.1551C>G (p.His517Gln) c.1485C>G (p.His495Gln) c.870C>G (p.His290Gln) c.1119C>G (p.His373Gln) n.357C>G n.378C>G n.1098C>G c.1203C>G (p.His401Gln) c.1557C>G (p.His519Gln) | |
| 11 | g.75196631C>T | CA6188420 | SLCO2B1 | c.1551C>T (p.His517=) c.1485C>T (p.His495=) c.870C>T (p.His290=) c.1119C>T (p.His373=) n.357C>T n.378C>T n.1098C>T c.1203C>T (p.His401=) c.1557C>T (p.His519=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.75196632G>A | CA381871327 | SLCO2B1 | c.1552G>A (p.Ala518Thr) c.1486G>A (p.Ala496Thr) c.871G>A (p.Ala291Thr) c.1120G>A (p.Ala374Thr) n.358G>A n.379G>A n.1099G>A c.1204G>A (p.Ala402Thr) c.1558G>A (p.Ala520Thr) | gnomAD v4 |
| 11 | g.75196632G>C | CA381871328 | SLCO2B1 | c.1552G>C (p.Ala518Pro) c.1486G>C (p.Ala496Pro) c.871G>C (p.Ala291Pro) c.1120G>C (p.Ala374Pro) n.358G>C n.379G>C n.1099G>C c.1204G>C (p.Ala402Pro) c.1558G>C (p.Ala520Pro) | |
| 11 | g.75196632G>T | CA381871329 | SLCO2B1 | c.1552G>T (p.Ala518Ser) c.1486G>T (p.Ala496Ser) c.871G>T (p.Ala291Ser) c.1120G>T (p.Ala374Ser) n.358G>T n.379G>T n.1099G>T c.1204G>T (p.Ala402Ser) c.1558G>T (p.Ala520Ser) | |
| 11 | g.75196633C>A | CA381871330 | SLCO2B1 | c.1553C>A (p.Ala518Glu) c.1487C>A (p.Ala496Glu) c.872C>A (p.Ala291Glu) c.1121C>A (p.Ala374Glu) n.359C>A n.380C>A n.1100C>A c.1205C>A (p.Ala402Glu) c.1559C>A (p.Ala520Glu) | |
| 11 | g.75196633C>G | CA381871331 | SLCO2B1 | c.1553C>G (p.Ala518Gly) c.1487C>G (p.Ala496Gly) c.872C>G (p.Ala291Gly) c.1121C>G (p.Ala374Gly) n.359C>G n.380C>G n.1100C>G c.1205C>G (p.Ala402Gly) c.1559C>G (p.Ala520Gly) | |
| 11 | g.75196633C>T | CA381871332 | SLCO2B1 | c.1553C>T (p.Ala518Val) c.1487C>T (p.Ala496Val) c.872C>T (p.Ala291Val) c.1121C>T (p.Ala374Val) n.359C>T n.380C>T n.1100C>T c.1205C>T (p.Ala402Val) c.1559C>T (p.Ala520Val) | gnomAD v4 |
| 11 | g.75196634A= | CA1983218042 | SLCO2B1 | c.1554A= (p.Ala518=) c.1488A= (p.Ala496=) c.873A= (p.Ala291=) c.1122A= (p.Ala374=) n.360A= n.381A= n.1101A= c.1206A= (p.Ala402=) c.1560A= (p.Ala520=) | |
| 11 | g.75196634A>C | CA475707831 | SLCO2B1 | c.1554A>C (p.Ala518=) c.1488A>C (p.Ala496=) c.873A>C (p.Ala291=) c.1122A>C (p.Ala374=) n.360A>C n.381A>C n.1101A>C c.1206A>C (p.Ala402=) c.1560A>C (p.Ala520=) | |
| 11 | g.75196634A>G | CA475707833 | SLCO2B1 | c.1554A>G (p.Ala518=) c.1488A>G (p.Ala496=) c.873A>G (p.Ala291=) c.1122A>G (p.Ala374=) n.360A>G n.381A>G n.1101A>G c.1206A>G (p.Ala402=) c.1560A>G (p.Ala520=) | dbSNP gnomAD v4 |
| 11 | g.75196634A>T | CA475707835 | SLCO2B1 | c.1554A>T (p.Ala518=) c.1488A>T (p.Ala496=) c.873A>T (p.Ala291=) c.1122A>T (p.Ala374=) n.360A>T n.381A>T n.1101A>T c.1206A>T (p.Ala402=) c.1560A>T (p.Ala520=) | |
| 11 | g.75196635G>A | CA381871333 | SLCO2B1 | c.1555G>A (p.Gly519Ser) c.1489G>A (p.Gly497Ser) c.874G>A (p.Gly292Ser) c.1123G>A (p.Gly375Ser) n.361G>A n.382G>A n.1102G>A c.1207G>A (p.Gly403Ser) c.1561G>A (p.Gly521Ser) | gnomAD v4 |
| 11 | g.75196635G>C | CA381871334 | SLCO2B1 | c.1555G>C (p.Gly519Arg) c.1489G>C (p.Gly497Arg) c.874G>C (p.Gly292Arg) c.1123G>C (p.Gly375Arg) n.361G>C n.382G>C n.1102G>C c.1207G>C (p.Gly403Arg) c.1561G>C (p.Gly521Arg) | |
| 11 | g.75196635G>T | CA381871335 | SLCO2B1 | c.1555G>T (p.Gly519Cys) c.1489G>T (p.Gly497Cys) c.874G>T (p.Gly292Cys) c.1123G>T (p.Gly375Cys) n.361G>T n.382G>T n.1102G>T c.1207G>T (p.Gly403Cys) c.1561G>T (p.Gly521Cys) | dbSNP |
| 11 | g.75196636G>A | CA381871338 | SLCO2B1 | c.1556G>A (p.Gly519Asp) c.1490G>A (p.Gly497Asp) c.875G>A (p.Gly292Asp) c.1124G>A (p.Gly375Asp) n.362G>A n.383G>A n.1103G>A c.1208G>A (p.Gly403Asp) c.1562G>A (p.Gly521Asp) | |
| 11 | g.75196636G>C | CA381871337 | SLCO2B1 | c.1556G>C (p.Gly519Ala) c.1490G>C (p.Gly497Ala) c.875G>C (p.Gly292Ala) c.1124G>C (p.Gly375Ala) n.362G>C n.383G>C n.1103G>C c.1208G>C (p.Gly403Ala) c.1562G>C (p.Gly521Ala) | |
| 11 | g.75196636G>T | CA381871336 | SLCO2B1 | c.1556G>T (p.Gly519Val) c.1490G>T (p.Gly497Val) c.875G>T (p.Gly292Val) c.1124G>T (p.Gly375Val) n.362G>T n.383G>T n.1103G>T c.1208G>T (p.Gly403Val) c.1562G>T (p.Gly521Val) | |
| 11 | g.75196637C>A | CA475707842 | SLCO2B1 | c.1557C>A (p.Gly519=) c.1491C>A (p.Gly497=) c.876C>A (p.Gly292=) c.1125C>A (p.Gly375=) n.363C>A n.384C>A n.1104C>A c.1209C>A (p.Gly403=) c.1563C>A (p.Gly521=) | |
| 11 | g.75196637C>G | CA475707844 | SLCO2B1 | c.1557C>G (p.Gly519=) c.1491C>G (p.Gly497=) c.876C>G (p.Gly292=) c.1125C>G (p.Gly375=) n.363C>G n.384C>G n.1104C>G c.1209C>G (p.Gly403=) c.1563C>G (p.Gly521=) | |
| 11 | g.75196637C>T | CA475707846 | SLCO2B1 | c.1557C>T (p.Gly519=) c.1491C>T (p.Gly497=) c.876C>T (p.Gly292=) c.1125C>T (p.Gly375=) n.363C>T n.384C>T n.1104C>T c.1209C>T (p.Gly403=) c.1563C>T (p.Gly521=) | |
| 11 | g.75196638T>A | CA381871339 | SLCO2B1 | c.1558T>A (p.Cys520Ser) c.1492T>A (p.Cys498Ser) c.877T>A (p.Cys293Ser) c.1126T>A (p.Cys376Ser) n.364T>A n.385T>A n.1105T>A c.1210T>A (p.Cys404Ser) c.1564T>A (p.Cys522Ser) | |
| 11 | g.75196638T>C | CA381871341 | SLCO2B1 | c.1558T>C (p.Cys520Arg) c.1492T>C (p.Cys498Arg) c.877T>C (p.Cys293Arg) c.1126T>C (p.Cys376Arg) n.364T>C n.385T>C n.1105T>C c.1210T>C (p.Cys404Arg) c.1564T>C (p.Cys522Arg) | |
| 11 | g.75196638T>G | CA381871340 | SLCO2B1 | c.1558T>G (p.Cys520Gly) c.1492T>G (p.Cys498Gly) c.877T>G (p.Cys293Gly) c.1126T>G (p.Cys376Gly) n.364T>G n.385T>G n.1105T>G c.1210T>G (p.Cys404Gly) c.1564T>G (p.Cys522Gly) | |
| 11 | g.75196639G>A | CA381871342 | SLCO2B1 | c.1559G>A (p.Cys520Tyr) c.1493G>A (p.Cys498Tyr) c.878G>A (p.Cys293Tyr) c.1127G>A (p.Cys376Tyr) n.365G>A n.386G>A n.1106G>A c.1211G>A (p.Cys404Tyr) c.1565G>A (p.Cys522Tyr) | |
| 11 | g.75196639G>C | CA224629920 | SLCO2B1 | c.1559G>C (p.Cys520Ser) c.1493G>C (p.Cys498Ser) c.878G>C (p.Cys293Ser) c.1127G>C (p.Cys376Ser) n.365G>C n.386G>C n.1106G>C c.1211G>C (p.Cys404Ser) c.1565G>C (p.Cys522Ser) | dbSNP gnomAD v2 |
| 11 | g.75196639G= | CA1983218043 | SLCO2B1 | c.1559G= (p.Cys520=) c.1493G= (p.Cys498=) c.878G= (p.Cys293=) c.1127G= (p.Cys376=) n.365G= n.386G= n.1106G= c.1211G= (p.Cys404=) c.1565G= (p.Cys522=) | |
| 11 | g.75196639G>T | CA381871343 | SLCO2B1 | c.1559G>T (p.Cys520Phe) c.1493G>T (p.Cys498Phe) c.878G>T (p.Cys293Phe) c.1127G>T (p.Cys376Phe) n.365G>T n.386G>T n.1106G>T c.1211G>T (p.Cys404Phe) c.1565G>T (p.Cys522Phe) | |
| 11 | g.75196640C>A | CA381871344 | SLCO2B1 | c.1560C>A (p.Cys520Ter) c.1494C>A (p.Cys498Ter) c.879C>A (p.Cys293Ter) c.1128C>A (p.Cys376Ter) n.366C>A n.387C>A n.1107C>A c.1212C>A (p.Cys404Ter) c.1566C>A (p.Cys522Ter) | |
| 11 | g.75196640C= | CA1983218044 | SLCO2B1 | c.1560C= (p.Cys520=) c.1494C= (p.Cys498=) c.879C= (p.Cys293=) c.1128C= (p.Cys376=) n.366C= n.387C= n.1107C= c.1212C= (p.Cys404=) c.1566C= (p.Cys522=) | |
| 11 | g.75196640C>G | CA381871345 | SLCO2B1 | c.1560C>G (p.Cys520Trp) c.1494C>G (p.Cys498Trp) c.879C>G (p.Cys293Trp) c.1128C>G (p.Cys376Trp) n.366C>G n.387C>G n.1107C>G c.1212C>G (p.Cys404Trp) c.1566C>G (p.Cys522Trp) | |
| 11 | g.75196640C>T | CA475707856 | SLCO2B1 | c.1560C>T (p.Cys520=) c.1494C>T (p.Cys498=) c.879C>T (p.Cys293=) c.1128C>T (p.Cys376=) n.366C>T n.387C>T n.1107C>T c.1212C>T (p.Cys404=) c.1566C>T (p.Cys522=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.75196641T>A | CA381871346 | SLCO2B1 | c.1561T>A (p.Ser521Thr) c.1495T>A (p.Ser499Thr) c.880T>A (p.Ser294Thr) c.1129T>A (p.Ser377Thr) n.367T>A n.388T>A n.1108T>A c.1213T>A (p.Ser405Thr) c.1567T>A (p.Ser523Thr) | dbSNP gnomAD v4 |
| 11 | g.75196641T>C | CA381871347 | SLCO2B1 | c.1561T>C (p.Ser521Pro) c.1495T>C (p.Ser499Pro) c.880T>C (p.Ser294Pro) c.1129T>C (p.Ser377Pro) n.367T>C n.388T>C n.1108T>C c.1213T>C (p.Ser405Pro) c.1567T>C (p.Ser523Pro) | |
| 11 | g.75196641T>G | CA381871348 | SLCO2B1 | c.1561T>G (p.Ser521Ala) c.1495T>G (p.Ser499Ala) c.880T>G (p.Ser294Ala) c.1129T>G (p.Ser377Ala) n.367T>G n.388T>G n.1108T>G c.1213T>G (p.Ser405Ala) c.1567T>G (p.Ser523Ala) | |
| 11 | g.75196641T= | CA1983218045 | SLCO2B1 | c.1561T= (p.Ser521=) c.1495T= (p.Ser499=) c.880T= (p.Ser294=) c.1129T= (p.Ser377=) n.367T= n.388T= n.1108T= c.1213T= (p.Ser405=) c.1567T= (p.Ser523=) | |
| 11 | g.75196642C>A | CA381871349 | SLCO2B1 | c.1562C>A (p.Ser521Ter) c.1496C>A (p.Ser499Ter) c.881C>A (p.Ser294Ter) c.1130C>A (p.Ser377Ter) n.368C>A n.389C>A n.1109C>A c.1214C>A (p.Ser405Ter) c.1568C>A (p.Ser523Ter) | |
| 11 | g.75196642C>G | CA381871350 | SLCO2B1 | c.1562C>G (p.Ser521Ter) c.1496C>G (p.Ser499Ter) c.881C>G (p.Ser294Ter) c.1130C>G (p.Ser377Ter) n.368C>G n.389C>G n.1109C>G c.1214C>G (p.Ser405Ter) c.1568C>G (p.Ser523Ter) | |
| 11 | g.75196642C>T | CA381871351 | SLCO2B1 | c.1562C>T (p.Ser521Leu) c.1496C>T (p.Ser499Leu) c.881C>T (p.Ser294Leu) c.1130C>T (p.Ser377Leu) n.368C>T n.389C>T n.1109C>T c.1214C>T (p.Ser405Leu) c.1568C>T (p.Ser523Leu) | |
| 11 | g.75196643A>C | CA475707869 | SLCO2B1 | c.1563A>C (p.Ser521=) c.1497A>C (p.Ser499=) c.882A>C (p.Ser294=) c.1131A>C (p.Ser377=) n.369A>C n.390A>C n.1110A>C c.1215A>C (p.Ser405=) c.1569A>C (p.Ser523=) | |
| 11 | g.75196643A>G | CA475707868 | SLCO2B1 | c.1563A>G (p.Ser521=) c.1497A>G (p.Ser499=) c.882A>G (p.Ser294=) c.1131A>G (p.Ser377=) n.369A>G n.390A>G n.1110A>G c.1215A>G (p.Ser405=) c.1569A>G (p.Ser523=) | |
| 11 | g.75196643A>T | CA475707866 | SLCO2B1 | c.1563A>T (p.Ser521=) c.1497A>T (p.Ser499=) c.882A>T (p.Ser294=) c.1131A>T (p.Ser377=) n.369A>T n.390A>T n.1110A>T c.1215A>T (p.Ser405=) c.1569A>T (p.Ser523=) | |
| 11 | g.75196644A= | CA1983218046 | SLCO2B1 | c.1564A= (p.Ser522=) c.1498A= (p.Ser500=) c.883A= (p.Ser295=) c.1132A= (p.Ser378=) n.370A= n.391A= n.1111A= c.1216A= (p.Ser406=) c.1570A= (p.Ser524=) | |
| 11 | g.75196644A>C | CA224629921 | SLCO2B1 | c.1564A>C (p.Ser522Arg) c.1498A>C (p.Ser500Arg) c.883A>C (p.Ser295Arg) c.1132A>C (p.Ser378Arg) n.370A>C n.391A>C n.1111A>C c.1216A>C (p.Ser406Arg) c.1570A>C (p.Ser524Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75196644A>G | CA381871353 | SLCO2B1 | c.1564A>G (p.Ser522Gly) c.1498A>G (p.Ser500Gly) c.883A>G (p.Ser295Gly) c.1132A>G (p.Ser378Gly) n.370A>G n.391A>G n.1111A>G c.1216A>G (p.Ser406Gly) c.1570A>G (p.Ser524Gly) | |
| 11 | g.75196644A>T | CA381871352 | SLCO2B1 | c.1564A>T (p.Ser522Cys) c.1498A>T (p.Ser500Cys) c.883A>T (p.Ser295Cys) c.1132A>T (p.Ser378Cys) n.370A>T n.391A>T n.1111A>T c.1216A>T (p.Ser406Cys) c.1570A>T (p.Ser524Cys) | |
| 11 | g.75196645G>A | CA381871354 | SLCO2B1 | c.1565G>A (p.Ser522Asn) c.1499G>A (p.Ser500Asn) c.884G>A (p.Ser295Asn) c.1133G>A (p.Ser378Asn) n.371G>A n.392G>A n.1112G>A c.1217G>A (p.Ser406Asn) c.1571G>A (p.Ser524Asn) | |
| 11 | g.75196645G>C | CA381871355 | SLCO2B1 | c.1565G>C (p.Ser522Thr) c.1499G>C (p.Ser500Thr) c.884G>C (p.Ser295Thr) c.1133G>C (p.Ser378Thr) n.371G>C n.392G>C n.1112G>C c.1217G>C (p.Ser406Thr) c.1571G>C (p.Ser524Thr) | |
| 11 | g.75196645G>T | CA381871356 | SLCO2B1 | c.1565G>T (p.Ser522Ile) c.1499G>T (p.Ser500Ile) c.884G>T (p.Ser295Ile) c.1133G>T (p.Ser378Ile) n.371G>T n.392G>T n.1112G>T c.1217G>T (p.Ser406Ile) c.1571G>T (p.Ser524Ile) | |
| 11 | g.75196646C>A | CA381871357 | SLCO2B1 | c.1566C>A (p.Ser522Arg) c.1500C>A (p.Ser500Arg) c.885C>A (p.Ser295Arg) c.1134C>A (p.Ser378Arg) n.372C>A n.393C>A n.1113C>A c.1218C>A (p.Ser406Arg) c.1572C>A (p.Ser524Arg) | |
| 11 | g.75196646C= | CA1983218047 | SLCO2B1 | c.1566C= (p.Ser522=) c.1500C= (p.Ser500=) c.885C= (p.Ser295=) c.1134C= (p.Ser378=) n.372C= n.393C= n.1113C= c.1218C= (p.Ser406=) c.1572C= (p.Ser524=) | |
| 11 | g.75196646C>G | CA381871358 | SLCO2B1 | c.1566C>G (p.Ser522Arg) c.1500C>G (p.Ser500Arg) c.885C>G (p.Ser295Arg) c.1134C>G (p.Ser378Arg) n.372C>G n.393C>G n.1113C>G c.1218C>G (p.Ser406Arg) c.1572C>G (p.Ser524Arg) | gnomAD v4 |
| 11 | g.75196646C>T | CA6188421 | SLCO2B1 | c.1566C>T (p.Ser522=) c.1500C>T (p.Ser500=) c.885C>T (p.Ser295=) c.1134C>T (p.Ser378=) n.372C>T n.393C>T n.1113C>T c.1218C>T (p.Ser406=) c.1572C>T (p.Ser524=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.75196647T>A | CA381871359 | SLCO2B1 | c.1567T>A (p.Trp523Arg) c.1501T>A (p.Trp501Arg) c.886T>A (p.Trp296Arg) c.1135T>A (p.Trp379Arg) n.373T>A n.394T>A n.1114T>A c.1219T>A (p.Trp407Arg) c.1573T>A (p.Trp525Arg) | |
| 11 | g.75196647T>C | CA381871360 | SLCO2B1 | c.1567T>C (p.Trp523Arg) c.1501T>C (p.Trp501Arg) c.886T>C (p.Trp296Arg) c.1135T>C (p.Trp379Arg) n.373T>C n.394T>C n.1114T>C c.1219T>C (p.Trp407Arg) c.1573T>C (p.Trp525Arg) | dbSNP |
| 11 | g.75196647T>G | CA381871361 | SLCO2B1 | c.1567T>G (p.Trp523Gly) c.1501T>G (p.Trp501Gly) c.886T>G (p.Trp296Gly) c.1135T>G (p.Trp379Gly) n.373T>G n.394T>G n.1114T>G c.1219T>G (p.Trp407Gly) c.1573T>G (p.Trp525Gly) | |
| 11 | g.75196648G>A | CA381871362 | SLCO2B1 | c.1568G>A (p.Trp523Ter) c.1502G>A (p.Trp501Ter) c.887G>A (p.Trp296Ter) c.1136G>A (p.Trp379Ter) n.374G>A n.395G>A n.1115G>A c.1220G>A (p.Trp407Ter) c.1574G>A (p.Trp525Ter) | |
| 11 | g.75196648G>C | CA381871363 | SLCO2B1 | c.1568G>C (p.Trp523Ser) c.1502G>C (p.Trp501Ser) c.887G>C (p.Trp296Ser) c.1136G>C (p.Trp379Ser) n.374G>C n.395G>C n.1115G>C c.1220G>C (p.Trp407Ser) c.1574G>C (p.Trp525Ser) | |
| 11 | g.75196648G>T | CA381871364 | SLCO2B1 | c.1568G>T (p.Trp523Leu) c.1502G>T (p.Trp501Leu) c.887G>T (p.Trp296Leu) c.1136G>T (p.Trp379Leu) n.374G>T n.395G>T n.1115G>T c.1220G>T (p.Trp407Leu) c.1574G>T (p.Trp525Leu) | |
| 11 | g.75196650_75196659dup | CA2792729324 | SLCO2B1 | c.1570_1579dup (p.Asp527GlyfsTer?) c.1504_1513dup (p.Asp505GlyfsTer?) c.889_898dup (p.Asp300GlyfsTer?) c.1138_1147dup (p.Asp383GlyfsTer?) n.376_385dup n.397_406dup n.1117_1126dup c.1222_1231dup (p.Asp411GlyfsTer?) c.1576_1585dup (p.Asp529GlyfsTer?) | |
| 11 | g.75196649G>A | CA381871367 | SLCO2B1 | c.1569G>A (p.Trp523Ter) c.1503G>A (p.Trp501Ter) c.888G>A (p.Trp296Ter) c.1137G>A (p.Trp379Ter) n.375G>A n.396G>A n.1116G>A c.1221G>A (p.Trp407Ter) c.1575G>A (p.Trp525Ter) | |
| 11 | g.75196649G>C | CA381871366 | SLCO2B1 | c.1569G>C (p.Trp523Cys) c.1503G>C (p.Trp501Cys) c.888G>C (p.Trp296Cys) c.1137G>C (p.Trp379Cys) n.375G>C n.396G>C n.1116G>C c.1221G>C (p.Trp407Cys) c.1575G>C (p.Trp525Cys) | |
| 11 | g.75196649G>T | CA381871365 | SLCO2B1 | c.1569G>T (p.Trp523Cys) c.1503G>T (p.Trp501Cys) c.888G>T (p.Trp296Cys) c.1137G>T (p.Trp379Cys) n.375G>T n.396G>T n.1116G>T c.1221G>T (p.Trp407Cys) c.1575G>T (p.Trp525Cys) | |
| 11 | g.75196650G>A | CA381871368 | SLCO2B1 | c.1570G>A (p.Val524Met) c.1504G>A (p.Val502Met) c.889G>A (p.Val297Met) c.1138G>A (p.Val380Met) n.376G>A n.397G>A n.1117G>A c.1222G>A (p.Val408Met) c.1576G>A (p.Val526Met) | |
| 11 | g.75196650G>C | CA381871369 | SLCO2B1 | c.1570G>C (p.Val524Leu) c.1504G>C (p.Val502Leu) c.889G>C (p.Val297Leu) c.1138G>C (p.Val380Leu) n.376G>C n.397G>C n.1117G>C c.1222G>C (p.Val408Leu) c.1576G>C (p.Val526Leu) | |
| 11 | g.75196650G>T | CA381871370 | SLCO2B1 | c.1570G>T (p.Val524Leu) c.1504G>T (p.Val502Leu) c.889G>T (p.Val297Leu) c.1138G>T (p.Val380Leu) n.376G>T n.397G>T n.1117G>T c.1222G>T (p.Val408Leu) c.1576G>T (p.Val526Leu) | |
| 11 | g.75196651T>A | CA381871371 | SLCO2B1 | c.1571T>A (p.Val524Glu) c.1505T>A (p.Val502Glu) c.890T>A (p.Val297Glu) c.1139T>A (p.Val380Glu) n.377T>A n.398T>A n.1118T>A c.1223T>A (p.Val408Glu) c.1577T>A (p.Val526Glu) | |
| 11 | g.75196651T>C | CA381871372 | SLCO2B1 | c.1571T>C (p.Val524Ala) c.1505T>C (p.Val502Ala) c.890T>C (p.Val297Ala) c.1139T>C (p.Val380Ala) n.377T>C n.398T>C n.1118T>C c.1223T>C (p.Val408Ala) c.1577T>C (p.Val526Ala) | |
| 11 | g.75196651T>G | CA381871373 | SLCO2B1 | c.1571T>G (p.Val524Gly) c.1505T>G (p.Val502Gly) c.890T>G (p.Val297Gly) c.1139T>G (p.Val380Gly) n.377T>G n.398T>G n.1118T>G c.1223T>G (p.Val408Gly) c.1577T>G (p.Val526Gly) | |
| 11 | g.75196652G>A | CA475707896 | SLCO2B1 | c.1572G>A (p.Val524=) c.1506G>A (p.Val502=) c.891G>A (p.Val297=) c.1140G>A (p.Val380=) n.378G>A n.399G>A n.1119G>A c.1224G>A (p.Val408=) c.1578G>A (p.Val526=) | dbSNP |
| 11 | g.75196652G>C | CA475707897 | SLCO2B1 | c.1572G>C (p.Val524=) c.1506G>C (p.Val502=) c.891G>C (p.Val297=) c.1140G>C (p.Val380=) n.378G>C n.399G>C n.1119G>C c.1224G>C (p.Val408=) c.1578G>C (p.Val526=) | |
| 11 | g.75196652G= | CA1983218048 | SLCO2B1 | c.1572G= (p.Val524=) c.1506G= (p.Val502=) c.891G= (p.Val297=) c.1140G= (p.Val380=) n.378G= n.399G= n.1119G= c.1224G= (p.Val408=) c.1578G= (p.Val526=) | |
| 11 | g.75196652G>T | CA475707899 | SLCO2B1 | c.1572G>T (p.Val524=) c.1506G>T (p.Val502=) c.891G>T (p.Val297=) c.1140G>T (p.Val380=) n.378G>T n.399G>T n.1119G>T c.1224G>T (p.Val408=) c.1578G>T (p.Val526=) | |
| 11 | g.75196653G>A | CA381871374 | SLCO2B1 | c.1573G>A (p.Val525Ile) c.1507G>A (p.Val503Ile) c.892G>A (p.Val298Ile) c.1141G>A (p.Val381Ile) n.379G>A n.400G>A n.1120G>A c.1225G>A (p.Val409Ile) c.1579G>A (p.Val527Ile) | |
| 11 | g.75196653G>C | CA381871375 | SLCO2B1 | c.1573G>C (p.Val525Leu) c.1507G>C (p.Val503Leu) c.892G>C (p.Val298Leu) c.1141G>C (p.Val381Leu) n.379G>C n.400G>C n.1120G>C c.1225G>C (p.Val409Leu) c.1579G>C (p.Val527Leu) | |
| 11 | g.75196653G>T | CA381871376 | SLCO2B1 | c.1573G>T (p.Val525Phe) c.1507G>T (p.Val503Phe) c.892G>T (p.Val298Phe) c.1141G>T (p.Val381Phe) n.379G>T n.400G>T n.1120G>T c.1225G>T (p.Val409Phe) c.1579G>T (p.Val527Phe) | |
| 11 | g.75196654T>A | CA381871377 | SLCO2B1 | c.1574T>A (p.Val525Asp) c.1508T>A (p.Val503Asp) c.893T>A (p.Val298Asp) c.1142T>A (p.Val381Asp) n.380T>A n.401T>A n.1121T>A c.1226T>A (p.Val409Asp) c.1580T>A (p.Val527Asp) | |
| 11 | g.75196654T>C | CA381871378 | SLCO2B1 | c.1574T>C (p.Val525Ala) c.1508T>C (p.Val503Ala) c.893T>C (p.Val298Ala) c.1142T>C (p.Val381Ala) n.380T>C n.401T>C n.1121T>C c.1226T>C (p.Val409Ala) c.1580T>C (p.Val527Ala) | |
| 11 | g.75196654T>G | CA381871379 | SLCO2B1 | c.1574T>G (p.Val525Gly) c.1508T>G (p.Val503Gly) c.893T>G (p.Val298Gly) c.1142T>G (p.Val381Gly) n.380T>G n.401T>G n.1121T>G c.1226T>G (p.Val409Gly) c.1580T>G (p.Val527Gly) | |
| 11 | g.75196655C>A | CA475707906 | SLCO2B1 | c.1575C>A (p.Val525=) c.1509C>A (p.Val503=) c.894C>A (p.Val298=) c.1143C>A (p.Val381=) n.381C>A n.402C>A n.1122C>A c.1227C>A (p.Val409=) c.1581C>A (p.Val527=) | gnomAD v4 |
| 11 | g.75196655C>G | CA475707908 | SLCO2B1 | c.1575C>G (p.Val525=) c.1509C>G (p.Val503=) c.894C>G (p.Val298=) c.1143C>G (p.Val381=) n.381C>G n.402C>G n.1122C>G c.1227C>G (p.Val409=) c.1581C>G (p.Val527=) | |
| 11 | g.75196655C>T | CA475707909 | SLCO2B1 | c.1575C>T (p.Val525=) c.1509C>T (p.Val503=) c.894C>T (p.Val298=) c.1143C>T (p.Val381=) n.381C>T n.402C>T n.1122C>T c.1227C>T (p.Val409=) c.1581C>T (p.Val527=) | gnomAD v4 |
| 11 | g.75196656C>A | CA381871381 | SLCO2B1 | c.1576C>A (p.Gln526Lys) c.1510C>A (p.Gln504Lys) c.895C>A (p.Gln299Lys) c.1144C>A (p.Gln382Lys) n.382C>A n.403C>A n.1123C>A c.1228C>A (p.Gln410Lys) c.1582C>A (p.Gln528Lys) | |
| 11 | g.75196656C>G | CA381871382 | SLCO2B1 | c.1576C>G (p.Gln526Glu) c.1510C>G (p.Gln504Glu) c.895C>G (p.Gln299Glu) c.1144C>G (p.Gln382Glu) n.382C>G n.403C>G n.1123C>G c.1228C>G (p.Gln410Glu) c.1582C>G (p.Gln528Glu) | |
| 11 | g.75196656C>T | CA381871380 | SLCO2B1 | c.1576C>T (p.Gln526Ter) c.1510C>T (p.Gln504Ter) c.895C>T (p.Gln299Ter) c.1144C>T (p.Gln382Ter) n.382C>T n.403C>T n.1123C>T c.1228C>T (p.Gln410Ter) c.1582C>T (p.Gln528Ter) | |
| 11 | g.75196657A>C | CA381871384 | SLCO2B1 | c.1577A>C (p.Gln526Pro) c.1511A>C (p.Gln504Pro) c.896A>C (p.Gln299Pro) c.1145A>C (p.Gln382Pro) n.383A>C n.404A>C n.1124A>C c.1229A>C (p.Gln410Pro) c.1583A>C (p.Gln528Pro) | |
| 11 | g.75196657A>G | CA381871386 | SLCO2B1 | c.1577A>G (p.Gln526Arg) c.1511A>G (p.Gln504Arg) c.896A>G (p.Gln299Arg) c.1145A>G (p.Gln382Arg) n.383A>G n.404A>G n.1124A>G c.1229A>G (p.Gln410Arg) c.1583A>G (p.Gln528Arg) | |
| 11 | g.75196657A>T | CA381871387 | SLCO2B1 | c.1577A>T (p.Gln526Leu) c.1511A>T (p.Gln504Leu) c.896A>T (p.Gln299Leu) c.1145A>T (p.Gln382Leu) n.383A>T n.404A>T n.1124A>T c.1229A>T (p.Gln410Leu) c.1583A>T (p.Gln528Leu) | |
| 11 | g.75196658G>A | CA475707918 | SLCO2B1 | c.1578G>A (p.Gln526=) c.1512G>A (p.Gln504=) c.897G>A (p.Gln299=) c.1146G>A (p.Gln382=) n.384G>A n.405G>A n.1125G>A c.1230G>A (p.Gln410=) c.1584G>A (p.Gln528=) | gnomAD v4 |
| 11 | g.75196658G>C | CA381871388 | SLCO2B1 | c.1578G>C (p.Gln526His) c.1512G>C (p.Gln504His) c.897G>C (p.Gln299His) c.1146G>C (p.Gln382His) n.384G>C n.405G>C n.1125G>C c.1230G>C (p.Gln410His) c.1584G>C (p.Gln528His) | |
| 11 | g.75196658G>T | CA381871390 | SLCO2B1 | c.1578G>T (p.Gln526His) c.1512G>T (p.Gln504His) c.897G>T (p.Gln299His) c.1146G>T (p.Gln382His) n.384G>T n.405G>T n.1125G>T c.1230G>T (p.Gln410His) c.1584G>T (p.Gln528His) | |
| 11 | g.75196659G>A | CA381871395 | SLCO2B1 | c.1579G>A (p.Asp527Asn) c.1513G>A (p.Asp505Asn) c.898G>A (p.Asp300Asn) c.1147G>A (p.Asp383Asn) n.385G>A n.406G>A n.1126G>A c.1231G>A (p.Asp411Asn) c.1585G>A (p.Asp529Asn) | |
| 11 | g.75196659G>C | CA381871392 | SLCO2B1 | c.1579G>C (p.Asp527His) c.1513G>C (p.Asp505His) c.898G>C (p.Asp300His) c.1147G>C (p.Asp383His) n.385G>C n.406G>C n.1126G>C c.1231G>C (p.Asp411His) c.1585G>C (p.Asp529His) | |
| 11 | g.75196659G>T | CA381871394 | SLCO2B1 | c.1579G>T (p.Asp527Tyr) c.1513G>T (p.Asp505Tyr) c.898G>T (p.Asp300Tyr) c.1147G>T (p.Asp383Tyr) n.385G>T n.406G>T n.1126G>T c.1231G>T (p.Asp411Tyr) c.1585G>T (p.Asp529Tyr) |