| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186210545G>A | CA442641209 | CYP4V2,KLKB1 | c.1482G>A (p.Gln494=) n.717G>A n.6180G>A c.201+1273G>A n.572G>A c.1479G>A (p.Gln493=) c.1086G>A (p.Gln362=) | |
| 4 | g.186210545G>C | CA358950955 | CYP4V2,KLKB1 | c.1482G>C (p.Gln494His) n.717G>C n.6180G>C c.201+1273G>C n.572G>C c.1479G>C (p.Gln493His) c.1086G>C (p.Gln362His) | |
| 4 | g.186210545G>T | CA358950957 | CYP4V2,KLKB1 | c.1482G>T (p.Gln494His) n.717G>T n.6180G>T c.201+1273G>T n.572G>T c.1479G>T (p.Gln493His) c.1086G>T (p.Gln362His) | |
| 4 | g.186210546A>C | CA358950961 | CYP4V2,KLKB1 | c.1483A>C (p.Lys495Gln) n.718A>C n.6181A>C c.201+1274A>C n.573A>C c.1480A>C (p.Lys494Gln) c.1087A>C (p.Lys363Gln) | |
| 4 | g.186210546A>G | CA358950963 | CYP4V2,KLKB1 | c.1483A>G (p.Lys495Glu) n.718A>G n.6181A>G c.201+1274A>G n.573A>G c.1480A>G (p.Lys494Glu) c.1087A>G (p.Lys363Glu) | |
| 4 | g.186210546A>T | CA358950965 | CYP4V2,KLKB1 | c.1483A>T (p.Lys495Ter) n.718A>T n.6181A>T c.201+1274A>T n.573A>T c.1480A>T (p.Lys494Ter) c.1087A>T (p.Lys363Ter) | |
| 4 | g.186210547A>C | CA358950966 | CYP4V2,KLKB1 | c.1484A>C (p.Lys495Thr) n.719A>C n.6182A>C c.201+1275A>C n.574A>C c.1481A>C (p.Lys494Thr) c.1088A>C (p.Lys363Thr) | |
| 4 | g.186210547A>G | CA358950968 | CYP4V2,KLKB1 | c.1484A>G (p.Lys495Arg) n.719A>G n.6182A>G c.201+1275A>G n.574A>G c.1481A>G (p.Lys494Arg) c.1088A>G (p.Lys363Arg) | |
| 4 | g.186210547A>T | CA358950970 | CYP4V2,KLKB1 | c.1484A>T (p.Lys495Ile) n.719A>T n.6182A>T c.201+1275A>T n.574A>T c.1481A>T (p.Lys494Ile) c.1088A>T (p.Lys363Ile) | |
| 4 | g.186210548A>C | CA358950972 | CYP4V2,KLKB1 | c.1485A>C (p.Lys495Asn) n.720A>C n.6183A>C c.201+1276A>C n.575A>C c.1482A>C (p.Lys494Asn) c.1089A>C (p.Lys363Asn) | |
| 4 | g.186210548A>G | CA442641210 | CYP4V2,KLKB1 | c.1485A>G (p.Lys495=) n.720A>G n.6183A>G c.201+1276A>G n.575A>G c.1482A>G (p.Lys494=) c.1089A>G (p.Lys363=) | gnomAD v4 |
| 4 | g.186210548A>T | CA358950974 | CYP4V2,KLKB1 | c.1485A>T (p.Lys495Asn) n.720A>T n.6183A>T c.201+1276A>T n.575A>T c.1482A>T (p.Lys494Asn) c.1089A>T (p.Lys363Asn) | |
| 4 | g.186210549A= | CA1519892081 | CYP4V2,KLKB1 | c.1486A= (p.Arg496=) n.721A= n.6184A= c.201+1277A= n.576A= c.1483A= (p.Arg495=) c.1090A= (p.Arg364=) | |
| 4 | g.186210549A>C | CA442641211 | CYP4V2,KLKB1 | c.1486A>C (p.Arg496=) n.721A>C n.6184A>C c.201+1277A>C n.576A>C c.1483A>C (p.Arg495=) c.1090A>C (p.Arg364=) | |
| 4 | g.186210549A>G | CA358950979 | CYP4V2,KLKB1 | c.1486A>G (p.Arg496Gly) n.721A>G n.6184A>G c.201+1277A>G n.576A>G c.1483A>G (p.Arg495Gly) c.1090A>G (p.Arg364Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186210549A>T | CA358950980 | CYP4V2,KLKB1 | c.1486A>T (p.Arg496Ter) n.721A>T n.6184A>T c.201+1277A>T n.576A>T c.1483A>T (p.Arg495Ter) c.1090A>T (p.Arg364Ter) | |
| 4 | g.186210550G>A | CA3162876 | CYP4V2,KLKB1 | c.1487G>A (p.Arg496Lys) n.722G>A n.6185G>A c.201+1278G>A n.577G>A c.1484G>A (p.Arg495Lys) c.1091G>A (p.Arg364Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186210550G>C | CA358950982 | CYP4V2,KLKB1 | c.1487G>C (p.Arg496Thr) n.722G>C n.6185G>C c.201+1278G>C n.577G>C c.1484G>C (p.Arg495Thr) c.1091G>C (p.Arg364Thr) | |
| 4 | g.186210550G= | CA1519892082 | CYP4V2,KLKB1 | c.1487G= (p.Arg496=) n.722G= n.6185G= c.201+1278G= n.577G= c.1484G= (p.Arg495=) c.1091G= (p.Arg364=) | |
| 4 | g.186210550G>T | CA358950983 | CYP4V2,KLKB1 | c.1487G>T (p.Arg496Ile) n.722G>T n.6185G>T c.201+1278G>T n.577G>T c.1484G>T (p.Arg495Ile) c.1091G>T (p.Arg364Ile) | |
| 4 | g.186210551A= | CA1519892083 | CYP4V2,KLKB1 | c.1488A= (p.Arg496=) n.723A= n.6186A= c.201+1279A= n.578A= c.1485A= (p.Arg495=) c.1092A= (p.Arg364=) | |
| 4 | g.186210551A>C | CA358950987 | CYP4V2,KLKB1 | c.1488A>C (p.Arg496Ser) n.723A>C n.6186A>C c.201+1279A>C n.578A>C c.1485A>C (p.Arg495Ser) c.1092A>C (p.Arg364Ser) | |
| 4 | g.186210551A>G | CA3162877 | CYP4V2,KLKB1 | c.1488A>G (p.Arg496=) n.723A>G n.6186A>G c.201+1279A>G n.578A>G c.1485A>G (p.Arg495=) c.1092A>G (p.Arg364=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186210551A>T | CA358950991 | CYP4V2,KLKB1 | c.1488A>T (p.Arg496Ser) n.723A>T n.6186A>T c.201+1279A>T n.578A>T c.1485A>T (p.Arg495Ser) c.1092A>T (p.Arg364Ser) | |
| 4 | g.186210552G>A | CA358950993 | CYP4V2,KLKB1 | c.1489G>A (p.Glu497Lys) n.724G>A n.6187G>A c.201+1280G>A n.579G>A c.1486G>A (p.Glu496Lys) c.1093G>A (p.Glu365Lys) | |
| 4 | g.186210552G>C | CA358950995 | CYP4V2,KLKB1 | c.1489G>C (p.Glu497Gln) n.724G>C n.6187G>C c.201+1280G>C n.579G>C c.1486G>C (p.Glu496Gln) c.1093G>C (p.Glu365Gln) | |
| 4 | g.186210552G>T | CA358950997 | CYP4V2,KLKB1 | c.1489G>T (p.Glu497Ter) n.724G>T n.6187G>T c.201+1280G>T n.579G>T c.1486G>T (p.Glu496Ter) c.1093G>T (p.Glu365Ter) | |
| 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) |