Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.186210553A>C | CA358950999 | CYP4V2,KLKB1 | c.1490A>C (p.Glu497Ala) n.725A>C n.6188A>C c.201+1281A>C n.580A>C c.1487A>C (p.Glu496Ala) c.1094A>C (p.Glu365Ala) | |
4 | g.186210553A>G | CA358951000 | CYP4V2,KLKB1 | c.1490A>G (p.Glu497Gly) n.725A>G n.6188A>G c.201+1281A>G n.580A>G c.1487A>G (p.Glu496Gly) c.1094A>G (p.Glu365Gly) | |
4 | g.186210553A>T | CA358951001 | CYP4V2,KLKB1 | c.1490A>T (p.Glu497Val) n.725A>T n.6188A>T c.201+1281A>T n.580A>T c.1487A>T (p.Glu496Val) c.1094A>T (p.Glu365Val) | |
4 | g.186210554A= | CA1519892084 | CYP4V2,KLKB1 | c.1491A= (p.Glu497=) n.726A= n.6189A= c.201+1282A= n.581A= c.1488A= (p.Glu496=) c.1095A= (p.Glu365=) | |
4 | g.186210554A>C | CA358951002 | CYP4V2,KLKB1 | c.1491A>C (p.Glu497Asp) n.726A>C n.6189A>C c.201+1282A>C n.581A>C c.1488A>C (p.Glu496Asp) c.1095A>C (p.Glu365Asp) | |
4 | g.186210554A>G | CA442641213 | CYP4V2,KLKB1 | c.1491A>G (p.Glu497=) n.726A>G n.6189A>G c.201+1282A>G n.581A>G c.1488A>G (p.Glu496=) c.1095A>G (p.Glu365=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186210554A>T | CA358951003 | CYP4V2,KLKB1 | c.1491A>T (p.Glu497Asp) n.726A>T n.6189A>T c.201+1282A>T n.581A>T c.1488A>T (p.Glu496Asp) c.1095A>T (p.Glu365Asp) | |
4 | g.186210555G>A | CA358951007 | CYP4V2,KLKB1 | c.1492G>A (p.Glu498Lys) n.727G>A n.6190G>A c.201+1283G>A n.582G>A c.1489G>A (p.Glu497Lys) c.1096G>A (p.Glu366Lys) | |
4 | g.186210555G>C | CA3162878 | CYP4V2,KLKB1 | c.1492G>C (p.Glu498Gln) n.727G>C n.6190G>C c.201+1283G>C n.582G>C c.1489G>C (p.Glu497Gln) c.1096G>C (p.Glu366Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210555G= | CA1519892085 | CYP4V2,KLKB1 | c.1492G= (p.Glu498=) n.727G= n.6190G= c.201+1283G= n.582G= c.1489G= (p.Glu497=) c.1096G= (p.Glu366=) | |
4 | g.186210555G>T | CA358951004 | CYP4V2,KLKB1 | c.1492G>T (p.Glu498Ter) n.727G>T n.6190G>T c.201+1283G>T n.582G>T c.1489G>T (p.Glu497Ter) c.1096G>T (p.Glu366Ter) | |
4 | g.186210556A= | CA1519892086 | CYP4V2,KLKB1 | c.1493A= (p.Glu498=) n.728A= n.6191A= c.201+1284A= n.583A= c.1490A= (p.Glu497=) c.1097A= (p.Glu366=) | |
4 | g.186210556A>C | CA3162879 | CYP4V2,KLKB1 | c.1493A>C (p.Glu498Ala) n.728A>C n.6191A>C c.201+1284A>C n.583A>C c.1490A>C (p.Glu497Ala) c.1097A>C (p.Glu366Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210556A>G | CA3162880 | CYP4V2,KLKB1 | c.1493A>G (p.Glu498Gly) n.728A>G n.6191A>G c.201+1284A>G n.583A>G c.1490A>G (p.Glu497Gly) c.1097A>G (p.Glu366Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210556A>T | CA358951009 | CYP4V2,KLKB1 | c.1493A>T (p.Glu498Val) n.728A>T n.6191A>T c.201+1284A>T n.583A>T c.1490A>T (p.Glu497Val) c.1097A>T (p.Glu366Val) | |
4 | g.186210557G>A | CA442641214 | CYP4V2,KLKB1 | c.1494G>A (p.Glu498=) n.729G>A n.6192G>A c.201+1285G>A n.584G>A c.1491G>A (p.Glu497=) c.1098G>A (p.Glu366=) | |
4 | g.186210557G>C | CA358951011 | CYP4V2,KLKB1 | c.1494G>C (p.Glu498Asp) n.729G>C n.6192G>C c.201+1285G>C n.584G>C c.1491G>C (p.Glu497Asp) c.1098G>C (p.Glu366Asp) | |
4 | g.186210557G>T | CA358951013 | CYP4V2,KLKB1 | c.1494G>T (p.Glu498Asp) n.729G>T n.6192G>T c.201+1285G>T n.584G>T c.1491G>T (p.Glu497Asp) c.1098G>T (p.Glu366Asp) | |
4 | g.186210558C>A | CA358951016 | CYP4V2,KLKB1 | c.1495C>A (p.Leu499Ile) n.730C>A n.6193C>A c.201+1286C>A n.585C>A c.1492C>A (p.Leu498Ile) c.1099C>A (p.Leu367Ile) | |
4 | g.186210558C= | CA1519892087 | CYP4V2,KLKB1 | c.1495C= (p.Leu499=) n.730C= n.6193C= c.201+1286C= n.585C= c.1492C= (p.Leu498=) c.1099C= (p.Leu367=) | |
4 | g.186210558C>G | CA358951019 | CYP4V2,KLKB1 | c.1495C>G (p.Leu499Val) n.730C>G n.6193C>G c.201+1286C>G n.585C>G c.1492C>G (p.Leu498Val) c.1099C>G (p.Leu367Val) | gnomAD v4 |
4 | g.186210558C>T | CA3162881 | CYP4V2,KLKB1 | c.1495C>T (p.Leu499Phe) n.730C>T n.6193C>T c.201+1286C>T n.585C>T c.1492C>T (p.Leu498Phe) c.1099C>T (p.Leu367Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210559T>A | CA358951023 | CYP4V2,KLKB1 | c.1496T>A (p.Leu499His) n.731T>A n.6194T>A c.201+1287T>A n.586T>A c.1493T>A (p.Leu498His) c.1100T>A (p.Leu367His) | |
4 | g.186210559T>C | CA358951025 | CYP4V2,KLKB1 | c.1496T>C (p.Leu499Pro) n.731T>C n.6194T>C c.201+1287T>C n.586T>C c.1493T>C (p.Leu498Pro) c.1100T>C (p.Leu367Pro) | dbSNP gnomAD v4 |
4 | g.186210559T>G | CA358951027 | CYP4V2,KLKB1 | c.1496T>G (p.Leu499Arg) n.731T>G n.6194T>G c.201+1287T>G n.586T>G c.1493T>G (p.Leu498Arg) c.1100T>G (p.Leu367Arg) | gnomAD v4 |
4 | g.186210559T= | CA1519892088 | CYP4V2,KLKB1 | c.1496T= (p.Leu499=) n.731T= n.6194T= c.201+1287T= n.586T= c.1493T= (p.Leu498=) c.1100T= (p.Leu367=) | |
4 | g.186210560T>A | CA442641216 | CYP4V2,KLKB1 | c.1497T>A (p.Leu499=) n.732T>A n.6195T>A c.201+1288T>A n.587T>A c.1494T>A (p.Leu498=) c.1101T>A (p.Leu367=) | |
4 | g.186210560T>C | CA442641217 | CYP4V2,KLKB1 | c.1497T>C (p.Leu499=) n.732T>C n.6195T>C c.201+1288T>C n.587T>C c.1494T>C (p.Leu498=) c.1101T>C (p.Leu367=) | |
4 | g.186210560T>G | CA442641218 | CYP4V2,KLKB1 | c.1497T>G (p.Leu499=) n.732T>G n.6195T>G c.201+1288T>G n.587T>G c.1494T>G (p.Leu498=) c.1101T>G (p.Leu367=) | |
4 | g.186210561G>A | CA358951030 | CYP4V2,KLKB1 | c.1498G>A (p.Gly500Ser) n.733G>A n.6196G>A c.201+1289G>A n.588G>A c.1495G>A (p.Gly499Ser) c.1102G>A (p.Gly368Ser) | |
4 | g.186210561G>C | CA358951032 | CYP4V2,KLKB1 | c.1498G>C (p.Gly500Arg) n.733G>C n.6196G>C c.201+1289G>C n.588G>C c.1495G>C (p.Gly499Arg) c.1102G>C (p.Gly368Arg) | |
4 | g.186210561G>T | CA358951034 | CYP4V2,KLKB1 | c.1498G>T (p.Gly500Cys) n.733G>T n.6196G>T c.201+1289G>T n.588G>T c.1495G>T (p.Gly499Cys) c.1102G>T (p.Gly368Cys) | |
4 | g.186210562G>A | CA358951041 | CYP4V2,KLKB1 | c.1499G>A (p.Gly500Asp) n.734G>A n.6197G>A c.201+1290G>A n.589G>A c.1496G>A (p.Gly499Asp) c.1103G>A (p.Gly368Asp) | |
4 | g.186210562G>C | CA358951039 | CYP4V2,KLKB1 | c.1499G>C (p.Gly500Ala) n.734G>C n.6197G>C c.201+1290G>C n.589G>C c.1496G>C (p.Gly499Ala) c.1103G>C (p.Gly368Ala) | |
4 | g.186210562G>T | CA358951036 | CYP4V2,KLKB1 | c.1499G>T (p.Gly500Val) n.734G>T n.6197G>T c.201+1290G>T n.589G>T c.1496G>T (p.Gly499Val) c.1103G>T (p.Gly368Val) | |
4 | g.186210563T>A | CA442641221 | CYP4V2,KLKB1 | c.1500T>A (p.Gly500=) n.735T>A n.6198T>A c.201+1291T>A n.590T>A c.1497T>A (p.Gly499=) c.1104T>A (p.Gly368=) | |
4 | g.186210563T>C | CA442641219 | CYP4V2,KLKB1 | c.1500T>C (p.Gly500=) n.735T>C n.6198T>C c.201+1291T>C n.590T>C c.1497T>C (p.Gly499=) c.1104T>C (p.Gly368=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186210563T>G | CA442641220 | CYP4V2,KLKB1 | c.1500T>G (p.Gly500=) n.735T>G n.6198T>G c.201+1291T>G n.590T>G c.1497T>G (p.Gly499=) c.1104T>G (p.Gly368=) | |
4 | g.186210563T= | CA1519892089 | CYP4V2,KLKB1 | c.1500T= (p.Gly500=) n.735T= n.6198T= c.201+1291T= n.590T= c.1497T= (p.Gly499=) c.1104T= (p.Gly368=) | |
4 | g.186210564C>A | CA358951044 | CYP4V2,KLKB1 | c.1501C>A (p.Leu501Ile) n.736C>A n.6199C>A c.201+1292C>A n.591C>A c.1498C>A (p.Leu500Ile) c.1105C>A (p.Leu369Ile) | |
4 | g.186210564C= | CA1519892090 | CYP4V2,KLKB1 | c.1501C= (p.Leu501=) n.736C= n.6199C= c.201+1292C= n.591C= c.1498C= (p.Leu500=) c.1105C= (p.Leu369=) | |
4 | g.186210564C>G | CA358951045 | CYP4V2,KLKB1 | c.1501C>G (p.Leu501Val) n.736C>G n.6199C>G c.201+1292C>G n.591C>G c.1498C>G (p.Leu500Val) c.1105C>G (p.Leu369Val) | ClinVar dbSNP gnomAD v4 |
4 | g.186210564C>T | CA442641222 | CYP4V2,KLKB1 | c.1501C>T (p.Leu501=) n.736C>T n.6199C>T c.201+1292C>T n.591C>T c.1498C>T (p.Leu500=) c.1105C>T (p.Leu369=) | dbSNP |
4 | g.186210565T>A | CA358951048 | CYP4V2,KLKB1 | c.1502T>A (p.Leu501Gln) n.737T>A n.6200T>A c.201+1293T>A n.592T>A c.1499T>A (p.Leu500Gln) c.1106T>A (p.Leu369Gln) | |
4 | g.186210565T>C | CA358951051 | CYP4V2,KLKB1 | c.1502T>C (p.Leu501Pro) n.737T>C n.6200T>C c.201+1293T>C n.592T>C c.1499T>C (p.Leu500Pro) c.1106T>C (p.Leu369Pro) | gnomAD v4 |
4 | g.186210565T>G | CA358951053 | CYP4V2,KLKB1 | c.1502T>G (p.Leu501Arg) n.737T>G n.6200T>G c.201+1293T>G n.592T>G c.1499T>G (p.Leu500Arg) c.1106T>G (p.Leu369Arg) | |
4 | g.186210566A= | CA1519892091 | CYP4V2,KLKB1 | c.1503A= (p.Leu501=) n.738A= n.6201A= c.201+1294A= n.593A= c.1500A= (p.Leu500=) c.1107A= (p.Leu369=) | |
4 | g.186210566A>C | CA442641223 | CYP4V2,KLKB1 | c.1503A>C (p.Leu501=) n.738A>C n.6201A>C c.201+1294A>C n.593A>C c.1500A>C (p.Leu500=) c.1107A>C (p.Leu369=) | |
4 | g.186210566A>G | CA3162882 | CYP4V2,KLKB1 | c.1503A>G (p.Leu501=) n.738A>G n.6201A>G c.201+1294A>G n.593A>G c.1500A>G (p.Leu500=) c.1107A>G (p.Leu369=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210566A>T | CA442641225 | CYP4V2,KLKB1 | c.1503A>T (p.Leu501=) n.738A>T n.6201A>T c.201+1294A>T n.593A>T c.1500A>T (p.Leu500=) c.1107A>T (p.Leu369=) | COSMIC |