Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.186210527_186210538delinsTTGGATAGAATC | CA1519892073 | CYP4V2,KLKB1 | c.1464_1475delinsTTGGATAGAATC (p.Phe488=) n.699_710delinsTTGGATAGAATC n.6162_6173delinsTTGGATAGAATC c.201+1255_201+1266delinsTTGGATAGAATC n.554_565delinsTTGGATAGAATC c.1461_1472delinsTTGGATAGAATC (p.Phe487=) c.1068_1079delinsTTGGATAGAATC (p.Phe356=) | |
4 | g.186210528_186210538del | CA792329398 | CYP4V2,KLKB1 | c.1465_1475del (p.Trp489GlnfsTer19) n.700_710del n.6163_6173del c.201+1256_201+1266del n.555_565del c.1462_1472del (p.Trp488GlnfsTer19) c.1069_1079del (p.Trp357GlnfsTer19) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186210534_186210540del | CA2672898195 | CYP4V2,KLKB1 | c.1471_1477del (p.Glu491ThrfsTer9) n.706_712del n.6169_6175del c.201+1262_201+1268del n.561_567del c.1468_1474del (p.Glu490ThrfsTer9) c.1075_1081del (p.Glu359ThrfsTer9) | gnomAD v4 |
4 | g.186210537_186210539del | CA645540549 | CYP4V2,KLKB1 | c.1474_1476del (p.Ser492del) n.709_711del n.6172_6174del c.201+1265_201+1267del n.564_566del c.1471_1473del (p.Ser491del) c.1078_1080del (p.Ser360del) | COSMIC |
4 | g.186210538C>A | CA358950925 | CYP4V2,KLKB1 | c.1475C>A (p.Ser492Tyr) n.710C>A n.6173C>A c.201+1266C>A n.565C>A c.1472C>A (p.Ser491Tyr) c.1079C>A (p.Ser360Tyr) | |
4 | g.186210538C>G | CA358950928 | CYP4V2,KLKB1 | c.1475C>G (p.Ser492Cys) n.710C>G n.6173C>G c.201+1266C>G n.565C>G c.1472C>G (p.Ser491Cys) c.1079C>G (p.Ser360Cys) | |
4 | g.186210538C>T | CA358950930 | CYP4V2,KLKB1 | c.1475C>T (p.Ser492Phe) n.710C>T n.6173C>T c.201+1266C>T n.565C>T c.1472C>T (p.Ser491Phe) c.1079C>T (p.Ser360Phe) | |
4 | g.186210539C>A | CA442641206 | CYP4V2,KLKB1 | c.1476C>A (p.Ser492=) n.711C>A n.6174C>A c.201+1267C>A n.566C>A c.1473C>A (p.Ser491=) c.1080C>A (p.Ser360=) | |
4 | g.186210539C>G | CA442641207 | CYP4V2,KLKB1 | c.1476C>G (p.Ser492=) n.711C>G n.6174C>G c.201+1267C>G n.566C>G c.1473C>G (p.Ser491=) c.1080C>G (p.Ser360=) | |
4 | g.186210539C>T | CA442641208 | CYP4V2,KLKB1 | c.1476C>T (p.Ser492=) n.711C>T n.6174C>T c.201+1267C>T n.566C>T c.1473C>T (p.Ser491=) c.1080C>T (p.Ser360=) | |
4 | g.186210540A>C | CA358950932 | CYP4V2,KLKB1 | c.1477A>C (p.Asn493His) n.712A>C n.6175A>C c.201+1268A>C n.567A>C c.1474A>C (p.Asn492His) c.1081A>C (p.Asn361His) | gnomAD v4 |
4 | g.186210540A>G | CA358950934 | CYP4V2,KLKB1 | c.1477A>G (p.Asn493Asp) n.712A>G n.6175A>G c.201+1268A>G n.567A>G c.1474A>G (p.Asn492Asp) c.1081A>G (p.Asn361Asp) | |
4 | g.186210540A>T | CA358950933 | CYP4V2,KLKB1 | c.1477A>T (p.Asn493Tyr) n.712A>T n.6175A>T c.201+1268A>T n.567A>T c.1474A>T (p.Asn492Tyr) c.1081A>T (p.Asn361Tyr) | |
4 | g.186210541A= | CA1519892077 | CYP4V2,KLKB1 | c.1478A= (p.Asn493=) n.713A= n.6176A= c.201+1269A= n.568A= c.1475A= (p.Asn492=) c.1082A= (p.Asn361=) | |
4 | g.186210541A>C | CA358950935 | CYP4V2,KLKB1 | c.1478A>C (p.Asn493Thr) n.713A>C n.6176A>C c.201+1269A>C n.568A>C c.1475A>C (p.Asn492Thr) c.1082A>C (p.Asn361Thr) | |
4 | g.186210541A>G | CA3162875 | CYP4V2,KLKB1 | c.1478A>G (p.Asn493Ser) n.713A>G n.6176A>G c.201+1269A>G n.568A>G c.1475A>G (p.Asn492Ser) c.1082A>G (p.Asn361Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210541A>T | CA358950937 | CYP4V2,KLKB1 | c.1478A>T (p.Asn493Ile) n.713A>T n.6176A>T c.201+1269A>T n.568A>T c.1475A>T (p.Asn492Ile) c.1082A>T (p.Asn361Ile) | |
4 | g.186210542C>A | CA358950939 | CYP4V2,KLKB1 | c.1479C>A (p.Asn493Lys) n.714C>A n.6177C>A c.201+1270C>A n.569C>A c.1476C>A (p.Asn492Lys) c.1083C>A (p.Asn361Lys) | |
4 | g.186210542C= | CA1519892078 | CYP4V2,KLKB1 | c.1479C= (p.Asn493=) n.714C= n.6177C= c.201+1270C= n.569C= c.1476C= (p.Asn492=) c.1083C= (p.Asn361=) | |
4 | g.186210542C>G | CA358950940 | CYP4V2,KLKB1 | c.1479C>G (p.Asn493Lys) n.714C>G n.6177C>G c.201+1270C>G n.569C>G c.1476C>G (p.Asn492Lys) c.1083C>G (p.Asn361Lys) | |
4 | g.186210542C>T | CA233874 | CYP4V2,KLKB1 | c.1479C>T (p.Asn493=) n.714C>T n.6177C>T c.201+1270C>T n.569C>T c.1476C>T (p.Asn492=) c.1083C>T (p.Asn361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210543C>A | CA358950944 | CYP4V2,KLKB1 | c.1480C>A (p.Gln494Lys) n.715C>A n.6178C>A c.201+1271C>A n.570C>A c.1477C>A (p.Gln493Lys) c.1084C>A (p.Gln362Lys) | |
4 | g.186210543C= | CA1519892079 | CYP4V2,KLKB1 | c.1480C= (p.Gln494=) n.715C= n.6178C= c.201+1271C= n.570C= c.1477C= (p.Gln493=) c.1084C= (p.Gln362=) | |
4 | g.186210543C>G | CA358950945 | CYP4V2,KLKB1 | c.1480C>G (p.Gln494Glu) n.715C>G n.6178C>G c.201+1271C>G n.570C>G c.1477C>G (p.Gln493Glu) c.1084C>G (p.Gln362Glu) | dbSNP gnomAD v4 |
4 | g.186210543C>T | CA358950947 | CYP4V2,KLKB1 | c.1480C>T (p.Gln494Ter) n.715C>T n.6178C>T c.201+1271C>T n.570C>T c.1477C>T (p.Gln493Ter) c.1084C>T (p.Gln362Ter) | ClinVar |
4 | g.186210544A= | CA1519892080 | CYP4V2,KLKB1 | c.1481A= (p.Gln494=) n.716A= n.6179A= c.201+1272A= n.571A= c.1478A= (p.Gln493=) c.1085A= (p.Gln362=) | |
4 | g.186210544A>C | CA358950953 | CYP4V2,KLKB1 | c.1481A>C (p.Gln494Pro) n.716A>C n.6179A>C c.201+1272A>C n.571A>C c.1478A>C (p.Gln493Pro) c.1085A>C (p.Gln362Pro) | |
4 | g.186210544A>G | CA358950951 | CYP4V2,KLKB1 | c.1481A>G (p.Gln494Arg) n.716A>G n.6179A>G c.201+1272A>G n.571A>G c.1478A>G (p.Gln493Arg) c.1085A>G (p.Gln362Arg) | dbSNP |
4 | g.186210544A>T | CA358950949 | CYP4V2,KLKB1 | c.1481A>T (p.Gln494Leu) n.716A>T n.6179A>T c.201+1272A>T n.571A>T c.1478A>T (p.Gln493Leu) c.1085A>T (p.Gln362Leu) | |
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) | |
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 |
4 | g.186210567G>A | CA358951057 | CYP4V2,KLKB1 | c.1504G>A (p.Glu502Lys) n.739G>A n.6202G>A c.201+1295G>A n.594G>A c.1501G>A (p.Glu501Lys) c.1108G>A (p.Glu370Lys) | |
4 | g.186210567G>C | CA358951064 | CYP4V2,KLKB1 | c.1504G>C (p.Glu502Gln) n.739G>C n.6202G>C c.201+1295G>C n.594G>C c.1501G>C (p.Glu501Gln) c.1108G>C (p.Glu370Gln) | |
4 | g.186210567G>T | CA358951066 | CYP4V2,KLKB1 | c.1504G>T (p.Glu502Ter) n.739G>T n.6202G>T c.201+1295G>T n.594G>T c.1501G>T (p.Glu501Ter) c.1108G>T (p.Glu370Ter) | |
4 | g.186210568A= | CA1519892092 | CYP4V2,KLKB1 | c.1505A= (p.Glu502=) n.740A= n.6203A= c.201+1296A= n.595A= c.1502A= (p.Glu501=) c.1109A= (p.Glu370=) | |
4 | g.186210568A>C | CA358951067 | CYP4V2,KLKB1 | c.1505A>C (p.Glu502Ala) n.740A>C n.6203A>C c.201+1296A>C n.595A>C c.1502A>C (p.Glu501Ala) c.1109A>C (p.Glu370Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.186210568A>G | CA358951069 | CYP4V2,KLKB1 | c.1505A>G (p.Glu502Gly) n.740A>G n.6203A>G c.201+1296A>G n.595A>G c.1502A>G (p.Glu501Gly) c.1109A>G (p.Glu370Gly) | |
4 | g.186210568A>T | CA358951071 | CYP4V2,KLKB1 | c.1505A>T (p.Glu502Val) n.740A>T n.6203A>T c.201+1296A>T n.595A>T c.1502A>T (p.Glu501Val) c.1109A>T (p.Glu370Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186210569del | CA2672898234 | CYP4V2,KLKB1 | c.1506del (p.Gly503AspfsTer3) n.741del n.6204del c.201+1297del n.596del c.1503del (p.Gly502AspfsTer3) c.1110del (p.Gly371AspfsTer3) | gnomAD v4 |
4 | g.186210569A>C | CA358951074 | CYP4V2,KLKB1 | c.1506A>C (p.Glu502Asp) n.741A>C n.6204A>C c.201+1297A>C n.596A>C c.1503A>C (p.Glu501Asp) c.1110A>C (p.Glu370Asp) | |
4 | g.186210569A>G | CA442641227 | CYP4V2,KLKB1 | c.1506A>G (p.Glu502=) n.741A>G n.6204A>G c.201+1297A>G n.596A>G c.1503A>G (p.Glu501=) c.1110A>G (p.Glu370=) | |
4 | g.186210569A>T | CA358951076 | CYP4V2,KLKB1 | c.1506A>T (p.Glu502Asp) n.741A>T n.6204A>T c.201+1297A>T n.596A>T c.1503A>T (p.Glu501Asp) c.1110A>T (p.Glu370Asp) | |
4 | g.186210570G>A | CA358951079 | CYP4V2,KLKB1 | c.1507G>A (p.Gly503Arg) n.742G>A n.6205G>A c.201+1298G>A n.597G>A c.1504G>A (p.Gly502Arg) c.1111G>A (p.Gly371Arg) | |
4 | g.186210570G>C | CA3162883 | CYP4V2,KLKB1 | c.1507G>C (p.Gly503Arg) n.742G>C n.6205G>C c.201+1298G>C n.597G>C c.1504G>C (p.Gly502Arg) c.1111G>C (p.Gly371Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210570G= | CA1519892093 | CYP4V2,KLKB1 | c.1507G= (p.Gly503=) n.742G= n.6205G= c.201+1298G= n.597G= c.1504G= (p.Gly502=) c.1111G= (p.Gly371=) | |
4 | g.186210570G>T | CA358951083 | CYP4V2,KLKB1 | c.1507G>T (p.Gly503Ter) n.742G>T n.6205G>T c.201+1298G>T n.597G>T c.1504G>T (p.Gly502Ter) c.1111G>T (p.Gly371Ter) | |
4 | g.186210571G>A | CA358951086 | CYP4V2,KLKB1 | c.1508G>A (p.Gly503Glu) n.743G>A n.6206G>A c.201+1299G>A n.598G>A c.1505G>A (p.Gly502Glu) c.1112G>A (p.Gly371Glu) | |
4 | g.186210571G>C | CA358951089 | CYP4V2,KLKB1 | c.1508G>C (p.Gly503Ala) n.743G>C n.6206G>C c.201+1299G>C n.598G>C c.1505G>C (p.Gly502Ala) c.1112G>C (p.Gly371Ala) | |
4 | g.186210571G>T | CA358951091 | CYP4V2,KLKB1 | c.1508G>T (p.Gly503Val) n.743G>T n.6206G>T c.201+1299G>T n.598G>T c.1505G>T (p.Gly502Val) c.1112G>T (p.Gly371Val) | |
4 | g.186210572A>C | CA442641228 | CYP4V2,KLKB1 | c.1509A>C (p.Gly503=) n.744A>C n.6207A>C c.201+1300A>C n.599A>C c.1506A>C (p.Gly502=) c.1113A>C (p.Gly371=) | |
4 | g.186210572A>G | CA442641229 | CYP4V2,KLKB1 | c.1509A>G (p.Gly503=) n.744A>G n.6207A>G c.201+1300A>G n.599A>G c.1506A>G (p.Gly502=) c.1113A>G (p.Gly371=) | |
4 | g.186210572A>T | CA442641230 | CYP4V2,KLKB1 | c.1509A>T (p.Gly503=) n.744A>T n.6207A>T c.201+1300A>T n.599A>T c.1506A>T (p.Gly502=) c.1113A>T (p.Gly371=) | |
4 | g.186210573C>A | CA358951094 | CYP4V2,KLKB1 | c.1510C>A (p.Gln504Lys) n.745C>A n.6208C>A c.201+1301C>A n.600C>A c.1507C>A (p.Gln503Lys) c.1114C>A (p.Gln372Lys) | |
4 | g.186210573C= | CA1519892094 | CYP4V2,KLKB1 | c.1510C= (p.Gln504=) n.745C= n.6208C= c.201+1301C= n.600C= c.1507C= (p.Gln503=) c.1114C= (p.Gln372=) | |
4 | g.186210573C>G | CA358951096 | CYP4V2,KLKB1 | c.1510C>G (p.Gln504Glu) n.745C>G n.6208C>G c.201+1301C>G n.600C>G c.1507C>G (p.Gln503Glu) c.1114C>G (p.Gln372Glu) | |
4 | g.186210573C>T | CA358951098 | CYP4V2,KLKB1 | c.1510C>T (p.Gln504Ter) n.745C>T n.6208C>T c.201+1301C>T n.600C>T c.1507C>T (p.Gln503Ter) c.1114C>T (p.Gln372Ter) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186210574A= | CA1519892095 | CYP4V2,KLKB1 | c.1511A= (p.Gln504=) n.746A= n.6209A= c.201+1302A= n.601A= c.1508A= (p.Gln503=) c.1115A= (p.Gln372=) | |
4 | g.186210574A>C | CA358951101 | CYP4V2,KLKB1 | c.1511A>C (p.Gln504Pro) n.746A>C n.6209A>C c.201+1302A>C n.601A>C c.1508A>C (p.Gln503Pro) c.1115A>C (p.Gln372Pro) | |
4 | g.186210574A>G | CA112136615 | CYP4V2,KLKB1 | c.1511A>G (p.Gln504Arg) n.746A>G n.6209A>G c.201+1302A>G n.601A>G c.1508A>G (p.Gln503Arg) c.1115A>G (p.Gln372Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186210574A>T | CA358951104 | CYP4V2,KLKB1 | c.1511A>T (p.Gln504Leu) n.746A>T n.6209A>T c.201+1302A>T n.601A>T c.1508A>T (p.Gln503Leu) c.1115A>T (p.Gln372Leu) | gnomAD v4 |
4 | g.186210575G>A | CA3162885 | CYP4V2,KLKB1 | c.1512G>A (p.Gln504=) n.747G>A n.6210G>A c.201+1303G>A n.602G>A c.1509G>A (p.Gln503=) c.1116G>A (p.Gln372=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210575G>C | CA358951108 | CYP4V2,KLKB1 | c.1512G>C (p.Gln504His) n.747G>C n.6210G>C c.201+1303G>C n.602G>C c.1509G>C (p.Gln503His) c.1116G>C (p.Gln372His) | |
4 | g.186210575G= | CA1519892096 | CYP4V2,KLKB1 | c.1512G= (p.Gln504=) n.747G= n.6210G= c.201+1303G= n.602G= c.1509G= (p.Gln503=) c.1116G= (p.Gln372=) | |
4 | g.186210575G>T | CA358951110 | CYP4V2,KLKB1 | c.1512G>T (p.Gln504His) n.747G>T n.6210G>T c.201+1303G>T n.602G>T c.1509G>T (p.Gln503His) c.1116G>T (p.Gln372His) | |
4 | g.186210575_186210576delinsGT | CA1519892097 | CYP4V2,KLKB1 | c.1512_1513delinsGT (p.Gln504=) n.747_748delinsGT n.6210_6211delinsGT c.201+1303_201+1304delinsGT n.602_603delinsGT c.1509_1510delinsGT (p.Gln503=) c.1116_1117delinsGT (p.Gln372=) | |
4 | g.186210576T>A | CA358951113 | CYP4V2,KLKB1 | c.1513T>A (p.Leu505Met) n.748T>A n.6211T>A c.201+1304T>A n.603T>A c.1510T>A (p.Leu504Met) c.1117T>A (p.Leu373Met) | |
4 | g.186210576T>C | CA442641231 | CYP4V2,KLKB1 | c.1513T>C (p.Leu505=) n.748T>C n.6211T>C c.201+1304T>C n.603T>C c.1510T>C (p.Leu504=) c.1117T>C (p.Leu373=) | ClinVar |
4 | g.186210576T>G | CA358951115 | CYP4V2,KLKB1 | c.1513T>G (p.Leu505Val) n.748T>G n.6211T>G c.201+1304T>G n.603T>G c.1510T>G (p.Leu504Val) c.1117T>G (p.Leu373Val) | |
4 | g.186210577del | CA3162884 | CYP4V2,KLKB1 | c.1514del (p.Leu505Ter) n.749del n.6212del c.201+1305del n.604del c.1511del (p.Leu504Ter) c.1118del (p.Leu373Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210577T>A | CA358951118 | CYP4V2,KLKB1 | c.1514T>A (p.Leu505Ter) n.749T>A n.6212T>A c.201+1305T>A n.604T>A c.1511T>A (p.Leu504Ter) c.1118T>A (p.Leu373Ter) | |
4 | g.186210577T>C | CA358951120 | CYP4V2,KLKB1 | c.1514T>C (p.Leu505Ser) n.749T>C n.6212T>C c.201+1305T>C n.604T>C c.1511T>C (p.Leu504Ser) c.1118T>C (p.Leu373Ser) | gnomAD v4 |
4 | g.186210577T>G | CA358951122 | CYP4V2,KLKB1 | c.1514T>G (p.Leu505Trp) n.749T>G n.6212T>G c.201+1305T>G n.604T>G c.1511T>G (p.Leu504Trp) c.1118T>G (p.Leu373Trp) | |
4 | g.186210578G>A | CA3162886 | CYP4V2,KLKB1 | c.1515G>A (p.Leu505=) n.750G>A n.6213G>A c.201+1306G>A n.605G>A c.1512G>A (p.Leu504=) c.1119G>A (p.Leu373=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210578G>C | CA358951125 | CYP4V2,KLKB1 | c.1515G>C (p.Leu505Phe) n.750G>C n.6213G>C c.201+1306G>C n.605G>C c.1512G>C (p.Leu504Phe) c.1119G>C (p.Leu373Phe) | |
4 | g.186210578G= | CA1519892098 | CYP4V2,KLKB1 | c.1515G= (p.Leu505=) n.750G= n.6213G= c.201+1306G= n.605G= c.1512G= (p.Leu504=) c.1119G= (p.Leu373=) | |
4 | g.186210578G>T | CA358951128 | CYP4V2,KLKB1 | c.1515G>T (p.Leu505Phe) n.750G>T n.6213G>T c.201+1306G>T n.605G>T c.1512G>T (p.Leu504Phe) c.1119G>T (p.Leu373Phe) | |
4 | g.186210579A= | CA1519892099 | CYP4V2,KLKB1 | c.1516A= (p.Ile506=) n.751A= n.6214A= c.201+1307A= n.606A= c.1513A= (p.Ile505=) c.1120A= (p.Ile374=) | |
4 | g.186210579A>C | CA358951130 | CYP4V2,KLKB1 | c.1516A>C (p.Ile506Leu) n.751A>C n.6214A>C c.201+1307A>C n.606A>C c.1513A>C (p.Ile505Leu) c.1120A>C (p.Ile374Leu) | dbSNP |
4 | g.186210579A>G | CA358951132 | CYP4V2,KLKB1 | c.1516A>G (p.Ile506Val) n.751A>G n.6214A>G c.201+1307A>G n.606A>G c.1513A>G (p.Ile505Val) c.1120A>G (p.Ile374Val) | |
4 | g.186210579A>T | CA358951134 | CYP4V2,KLKB1 | c.1516A>T (p.Ile506Phe) n.751A>T n.6214A>T c.201+1307A>T n.606A>T c.1513A>T (p.Ile505Phe) c.1120A>T (p.Ile374Phe) | |
4 | g.186210580T>A | CA358951138 | CYP4V2,KLKB1 | c.1517T>A (p.Ile506Asn) n.752T>A n.6215T>A c.201+1308T>A n.607T>A c.1514T>A (p.Ile505Asn) c.1121T>A (p.Ile374Asn) | |
4 | g.186210580T>C | CA358951141 | CYP4V2,KLKB1 | c.1517T>C (p.Ile506Thr) n.752T>C n.6215T>C c.201+1308T>C n.607T>C c.1514T>C (p.Ile505Thr) c.1121T>C (p.Ile374Thr) | |
4 | g.186210580T>G | CA358951136 | CYP4V2,KLKB1 | c.1517T>G (p.Ile506Ser) n.752T>G n.6215T>G c.201+1308T>G n.607T>G c.1514T>G (p.Ile505Ser) c.1121T>G (p.Ile374Ser) | |
4 | g.186210581T>A | CA442641232 | CYP4V2,KLKB1 | c.1518T>A (p.Ile506=) n.753T>A n.6216T>A c.201+1309T>A n.608T>A c.1515T>A (p.Ile505=) c.1122T>A (p.Ile374=) | |
4 | g.186210581T>C | CA442641233 | CYP4V2,KLKB1 | c.1518T>C (p.Ile506=) n.753T>C n.6216T>C c.201+1309T>C n.608T>C c.1515T>C (p.Ile505=) c.1122T>C (p.Ile374=) | |
4 | g.186210581T>G | CA358951144 | CYP4V2,KLKB1 | c.1518T>G (p.Ile506Met) n.753T>G n.6216T>G c.201+1309T>G n.608T>G c.1515T>G (p.Ile505Met) c.1122T>G (p.Ile374Met) | |
4 | g.186210582C>A | CA358951146 | CYP4V2,KLKB1 | c.1519C>A (p.Leu507Ile) n.754C>A n.6217C>A c.201+1310C>A n.609C>A c.1516C>A (p.Leu506Ile) c.1123C>A (p.Leu375Ile) | |
4 | g.186210582C= | CA1519892100 | CYP4V2,KLKB1 | c.1519C= (p.Leu507=) n.754C= n.6217C= c.201+1310C= n.609C= c.1516C= (p.Leu506=) c.1123C= (p.Leu375=) | |
4 | g.186210582C>G | CA358951148 | CYP4V2,KLKB1 | c.1519C>G (p.Leu507Val) n.754C>G n.6217C>G c.201+1310C>G n.609C>G c.1516C>G (p.Leu506Val) c.1123C>G (p.Leu375Val) | |
4 | g.186210582C>T | CA3162887 | CYP4V2,KLKB1 | c.1519C>T (p.Leu507Phe) n.754C>T n.6217C>T c.201+1310C>T n.609C>T c.1516C>T (p.Leu506Phe) c.1123C>T (p.Leu375Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210583T>A | CA358951151 | CYP4V2,KLKB1 | c.1520T>A (p.Leu507His) n.755T>A n.6218T>A c.201+1311T>A n.610T>A c.1517T>A (p.Leu506His) c.1124T>A (p.Leu375His) | |
4 | g.186210583T>C | CA358951153 | CYP4V2,KLKB1 | c.1520T>C (p.Leu507Pro) n.755T>C n.6218T>C c.201+1311T>C n.610T>C c.1517T>C (p.Leu506Pro) c.1124T>C (p.Leu375Pro) | |
4 | g.186210583T>G | CA358951155 | CYP4V2,KLKB1 | c.1520T>G (p.Leu507Arg) n.755T>G n.6218T>G c.201+1311T>G n.610T>G c.1517T>G (p.Leu506Arg) c.1124T>G (p.Leu375Arg) | |
4 | g.186210584T>A | CA442641234 | CYP4V2,KLKB1 | c.1521T>A (p.Leu507=) n.756T>A n.6219T>A c.201+1312T>A n.611T>A c.1518T>A (p.Leu506=) c.1125T>A (p.Leu375=) | |
4 | g.186210584T>C | CA442641235 | CYP4V2,KLKB1 | c.1521T>C (p.Leu507=) n.756T>C n.6219T>C c.201+1312T>C n.611T>C c.1518T>C (p.Leu506=) c.1125T>C (p.Leu375=) | |
4 | g.186210584T>G | CA442641236 | CYP4V2,KLKB1 | c.1521T>G (p.Leu507=) n.756T>G n.6219T>G c.201+1312T>G n.611T>G c.1518T>G (p.Leu506=) c.1125T>G (p.Leu375=) | |
4 | g.186210585C>A | CA358951157 | CYP4V2,KLKB1 | c.1522C>A (p.Arg508Ser) n.757C>A n.6220C>A c.201+1313C>A n.612C>A c.1519C>A (p.Arg507Ser) c.1126C>A (p.Arg376Ser) | |
4 | g.186210585C>G | CA358951161 | CYP4V2,KLKB1 | c.1522C>G (p.Arg508Gly) n.757C>G n.6220C>G c.201+1313C>G n.612C>G c.1519C>G (p.Arg507Gly) c.1126C>G (p.Arg376Gly) | |
4 | g.186210585C>T | CA358951163 | CYP4V2,KLKB1 | c.1522C>T (p.Arg508Cys) n.757C>T n.6220C>T c.201+1313C>T n.612C>T c.1519C>T (p.Arg507Cys) c.1126C>T (p.Arg376Cys) | COSMIC |
4 | g.186210586G>A | CA339956 | CYP4V2,KLKB1 | c.1523G>A (p.Arg508His) n.758G>A n.6221G>A c.201+1314G>A n.613G>A c.1520G>A (p.Arg507His) c.1127G>A (p.Arg376His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210586G>C | CA358951166 | CYP4V2,KLKB1 | c.1523G>C (p.Arg508Pro) n.758G>C n.6221G>C c.201+1314G>C n.613G>C c.1520G>C (p.Arg507Pro) c.1127G>C (p.Arg376Pro) | dbSNP |
4 | g.186210586G= | CA1519892101 | CYP4V2,KLKB1 | c.1523G= (p.Arg508=) n.758G= n.6221G= c.201+1314G= n.613G= c.1520G= (p.Arg507=) c.1127G= (p.Arg376=) | |
4 | g.186210586G>T | CA358951169 | CYP4V2,KLKB1 | c.1523G>T (p.Arg508Leu) n.758G>T n.6221G>T c.201+1314G>T n.613G>T c.1520G>T (p.Arg507Leu) c.1127G>T (p.Arg376Leu) | |
4 | g.186210587T>A | CA442641237 | CYP4V2,KLKB1 | c.1524T>A (p.Arg508=) n.759T>A n.6222T>A c.201+1315T>A n.614T>A c.1521T>A (p.Arg507=) c.1128T>A (p.Arg376=) | |
4 | g.186210587T>C | CA442641238 | CYP4V2,KLKB1 | c.1524T>C (p.Arg508=) n.759T>C n.6222T>C c.201+1315T>C n.614T>C c.1521T>C (p.Arg507=) c.1128T>C (p.Arg376=) | |
4 | g.186210587T>G | CA442641239 | CYP4V2,KLKB1 | c.1524T>G (p.Arg508=) n.759T>G n.6222T>G c.201+1315T>G n.614T>G c.1521T>G (p.Arg507=) c.1128T>G (p.Arg376=) | |
4 | g.186210588C>A | CA358951172 | CYP4V2,KLKB1 | c.1525C>A (p.Pro509Thr) n.760C>A n.6223C>A c.201+1316C>A n.615C>A c.1522C>A (p.Pro508Thr) c.1129C>A (p.Pro377Thr) | |
4 | g.186210588C>G | CA358951174 | CYP4V2,KLKB1 | c.1525C>G (p.Pro509Ala) n.760C>G n.6223C>G c.201+1316C>G n.615C>G c.1522C>G (p.Pro508Ala) c.1129C>G (p.Pro377Ala) | |
4 | g.186210588C>T | CA358951176 | CYP4V2,KLKB1 | c.1525C>T (p.Pro509Ser) n.760C>T n.6223C>T c.201+1316C>T n.615C>T c.1522C>T (p.Pro508Ser) c.1129C>T (p.Pro377Ser) | |
4 | g.186210589C>A | CA358951178 | CYP4V2,KLKB1 | c.1526C>A (p.Pro509Gln) n.761C>A n.6224C>A c.201+1317C>A n.616C>A c.1523C>A (p.Pro508Gln) c.1130C>A (p.Pro377Gln) | |
4 | g.186210589C= | CA1519892102 | CYP4V2,KLKB1 | c.1526C= (p.Pro509=) n.761C= n.6224C= c.201+1317C= n.616C= c.1523C= (p.Pro508=) c.1130C= (p.Pro377=) | |
4 | g.186210589C>G | CA358951182 | CYP4V2,KLKB1 | c.1526C>G (p.Pro509Arg) n.761C>G n.6224C>G c.201+1317C>G n.616C>G c.1523C>G (p.Pro508Arg) c.1130C>G (p.Pro377Arg) | ClinVar |
4 | g.186210589C>T | CA343721 | CYP4V2,KLKB1 | c.1526C>T (p.Pro509Leu) n.761C>T n.6224C>T c.201+1317C>T n.616C>T c.1523C>T (p.Pro508Leu) c.1130C>T (p.Pro377Leu) | ClinVar dbSNP |
4 | g.186210590A= | CA1519892103 | CYP4V2,KLKB1 | c.1527A= (p.Pro509=) n.762A= n.6225A= c.201+1318A= n.617A= c.1524A= (p.Pro508=) c.1131A= (p.Pro377=) | |
4 | g.186210590A>C | CA442641240 | CYP4V2,KLKB1 | c.1527A>C (p.Pro509=) n.762A>C n.6225A>C c.201+1318A>C n.617A>C c.1524A>C (p.Pro508=) c.1131A>C (p.Pro377=) | |
4 | g.186210590A>G | CA3162888 | CYP4V2,KLKB1 | c.1527A>G (p.Pro509=) n.762A>G n.6225A>G c.201+1318A>G n.617A>G c.1524A>G (p.Pro508=) c.1131A>G (p.Pro377=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210590A>T | CA442641241 | CYP4V2,KLKB1 | c.1527A>T (p.Pro509=) n.762A>T n.6225A>T c.201+1318A>T n.617A>T c.1524A>T (p.Pro508=) c.1131A>T (p.Pro377=) | |
4 | g.186210591A>C | CA358951186 | CYP4V2,KLKB1 | c.1528A>C (p.Ser510Arg) n.763A>C n.6226A>C c.201+1319A>C n.618A>C c.1525A>C (p.Ser509Arg) c.1132A>C (p.Ser378Arg) | |
4 | g.186210591A>G | CA358951189 | CYP4V2,KLKB1 | c.1528A>G (p.Ser510Gly) n.763A>G n.6226A>G c.201+1319A>G n.618A>G c.1525A>G (p.Ser509Gly) c.1132A>G (p.Ser378Gly) | gnomAD v4 |
4 | g.186210591A>T | CA358951190 | CYP4V2,KLKB1 | c.1528A>T (p.Ser510Cys) n.763A>T n.6226A>T c.201+1319A>T n.618A>T c.1525A>T (p.Ser509Cys) c.1132A>T (p.Ser378Cys) | |
4 | g.186210592G>A | CA358951193 | CYP4V2,KLKB1 | c.1529G>A (p.Ser510Asn) n.764G>A n.6227G>A c.201+1320G>A n.619G>A c.1526G>A (p.Ser509Asn) c.1133G>A (p.Ser378Asn) | ClinVar dbSNP |
4 | g.186210592G>C | CA358951194 | CYP4V2,KLKB1 | c.1529G>C (p.Ser510Thr) n.764G>C n.6227G>C c.201+1320G>C n.619G>C c.1526G>C (p.Ser509Thr) c.1133G>C (p.Ser378Thr) | |
4 | g.186210592G>T | CA358951196 | CYP4V2,KLKB1 | c.1529G>T (p.Ser510Ile) n.764G>T n.6227G>T c.201+1320G>T n.619G>T c.1526G>T (p.Ser509Ile) c.1133G>T (p.Ser378Ile) | |
4 | g.186210593T>A | CA358951198 | CYP4V2,KLKB1 | c.1530T>A (p.Ser510Arg) n.765T>A n.6228T>A c.201+1321T>A n.620T>A c.1527T>A (p.Ser509Arg) c.1134T>A (p.Ser378Arg) | |
4 | g.186210593T>C | CA442641242 | CYP4V2,KLKB1 | c.1530T>C (p.Ser510=) n.765T>C n.6228T>C c.201+1321T>C n.620T>C c.1527T>C (p.Ser509=) c.1134T>C (p.Ser378=) | |
4 | g.186210593T>G | CA358951200 | CYP4V2,KLKB1 | c.1530T>G (p.Ser510Arg) n.765T>G n.6228T>G c.201+1321T>G n.620T>G c.1527T>G (p.Ser509Arg) c.1134T>G (p.Ser378Arg) | |
4 | g.186210594A>C | CA358951205 | CYP4V2,KLKB1 | c.1531A>C (p.Asn511His) n.766A>C n.6229A>C c.201+1322A>C n.621A>C c.1528A>C (p.Asn510His) c.1135A>C (p.Asn379His) | |
4 | g.186210594A>G | CA358951206 | CYP4V2,KLKB1 | c.1531A>G (p.Asn511Asp) n.766A>G n.6229A>G c.201+1322A>G n.621A>G c.1528A>G (p.Asn510Asp) c.1135A>G (p.Asn379Asp) | |
4 | g.186210594A>T | CA358951202 | CYP4V2,KLKB1 | c.1531A>T (p.Asn511Tyr) n.766A>T n.6229A>T c.201+1322A>T n.621A>T c.1528A>T (p.Asn510Tyr) c.1135A>T (p.Asn379Tyr) | |
4 | g.186210595A>C | CA358951210 | CYP4V2,KLKB1 | c.1532A>C (p.Asn511Thr) n.767A>C n.6230A>C c.201+1323A>C n.622A>C c.1529A>C (p.Asn510Thr) c.1136A>C (p.Asn379Thr) | |
4 | g.186210595A>G | CA358951212 | CYP4V2,KLKB1 | c.1532A>G (p.Asn511Ser) n.767A>G n.6230A>G c.201+1323A>G n.622A>G c.1529A>G (p.Asn510Ser) c.1136A>G (p.Asn379Ser) | gnomAD v4 |
4 | g.186210595A>T | CA358951214 | CYP4V2,KLKB1 | c.1532A>T (p.Asn511Ile) n.767A>T n.6230A>T c.201+1323A>T n.622A>T c.1529A>T (p.Asn510Ile) c.1136A>T (p.Asn379Ile) | |
4 | g.186210596T>A | CA358951216 | CYP4V2,KLKB1 | c.1533T>A (p.Asn511Lys) n.768T>A n.6231T>A c.201+1324T>A n.623T>A c.1530T>A (p.Asn510Lys) c.1137T>A (p.Asn379Lys) | |
4 | g.186210596T>C | CA442641243 | CYP4V2,KLKB1 | c.1533T>C (p.Asn511=) n.768T>C n.6231T>C c.201+1324T>C n.623T>C c.1530T>C (p.Asn510=) c.1137T>C (p.Asn379=) | dbSNP |
4 | g.186210596T>G | CA358951219 | CYP4V2,KLKB1 | c.1533T>G (p.Asn511Lys) n.768T>G n.6231T>G c.201+1324T>G n.623T>G c.1530T>G (p.Asn510Lys) c.1137T>G (p.Asn379Lys) | |
4 | g.186210596T= | CA1519892104 | CYP4V2,KLKB1 | c.1533T= (p.Asn511=) n.768T= n.6231T= c.201+1324T= n.623T= c.1530T= (p.Asn510=) c.1137T= (p.Asn379=) | |
4 | g.186210597G>A | CA3162889 | CYP4V2,KLKB1 | c.1534G>A (p.Gly512Ser) n.769G>A n.6232G>A c.201+1325G>A n.624G>A c.1531G>A (p.Gly511Ser) c.1138G>A (p.Gly380Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210597G>C | CA358951221 | CYP4V2,KLKB1 | c.1534G>C (p.Gly512Arg) n.769G>C n.6232G>C c.201+1325G>C n.624G>C c.1531G>C (p.Gly511Arg) c.1138G>C (p.Gly380Arg) | dbSNP gnomAD v4 |
4 | g.186210597G= | CA1519892105 | CYP4V2,KLKB1 | c.1534G= (p.Gly512=) n.769G= n.6232G= c.201+1325G= n.624G= c.1531G= (p.Gly511=) c.1138G= (p.Gly380=) | |
4 | g.186210597G>T | CA358951223 | CYP4V2,KLKB1 | c.1534G>T (p.Gly512Cys) n.769G>T n.6232G>T c.201+1325G>T n.624G>T c.1531G>T (p.Gly511Cys) c.1138G>T (p.Gly380Cys) | |
4 | g.186210598G>A | CA358951227 | CYP4V2,KLKB1 | c.1535G>A (p.Gly512Asp) n.770G>A n.6233G>A c.201+1326G>A n.625G>A c.1532G>A (p.Gly511Asp) c.1139G>A (p.Gly380Asp) | |
4 | g.186210598G>C | CA358951229 | CYP4V2,KLKB1 | c.1535G>C (p.Gly512Ala) n.770G>C n.6233G>C c.201+1326G>C n.625G>C c.1532G>C (p.Gly511Ala) c.1139G>C (p.Gly380Ala) | |
4 | g.186210598G>T | CA358951232 | CYP4V2,KLKB1 | c.1535G>T (p.Gly512Val) n.770G>T n.6233G>T c.201+1326G>T n.625G>T c.1532G>T (p.Gly511Val) c.1139G>T (p.Gly380Val) | |
4 | g.186210599C>A | CA442641244 | CYP4V2,KLKB1 | c.1536C>A (p.Gly512=) n.771C>A n.6234C>A c.201+1327C>A n.626C>A c.1533C>A (p.Gly511=) c.1140C>A (p.Gly380=) | |
4 | g.186210599C= | CA1519892106 | CYP4V2,KLKB1 | c.1536C= (p.Gly512=) n.771C= n.6234C= c.201+1327C= n.626C= c.1533C= (p.Gly511=) c.1140C= (p.Gly380=) | |
4 | g.186210599C>G | CA442641245 | CYP4V2,KLKB1 | c.1536C>G (p.Gly512=) n.771C>G n.6234C>G c.201+1327C>G n.626C>G c.1533C>G (p.Gly511=) c.1140C>G (p.Gly380=) | gnomAD v4 |
4 | g.186210599C>T | CA3162890 | CYP4V2,KLKB1 | c.1536C>T (p.Gly512=) n.771C>T n.6234C>T c.201+1327C>T n.626C>T c.1533C>T (p.Gly511=) c.1140C>T (p.Gly380=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210600A= | CA1519892107 | CYP4V2,KLKB1 | c.1537A= (p.Ile513=) n.772A= n.6235A= c.201+1328A= n.627A= c.1534A= (p.Ile512=) c.1141A= (p.Ile381=) | |
4 | g.186210600A>C | CA358951241 | CYP4V2,KLKB1 | c.1537A>C (p.Ile513Leu) n.772A>C n.6235A>C c.201+1328A>C n.627A>C c.1534A>C (p.Ile512Leu) c.1141A>C (p.Ile381Leu) | |
4 | g.186210600A>G | CA358951236 | CYP4V2,KLKB1 | c.1537A>G (p.Ile513Val) n.772A>G n.6235A>G c.201+1328A>G n.627A>G c.1534A>G (p.Ile512Val) c.1141A>G (p.Ile381Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210600A>T | CA358951239 | CYP4V2,KLKB1 | c.1537A>T (p.Ile513Phe) n.772A>T n.6235A>T c.201+1328A>T n.627A>T c.1534A>T (p.Ile512Phe) c.1141A>T (p.Ile381Phe) | |
4 | g.186210601T>A | CA358951244 | CYP4V2,KLKB1 | c.1538T>A (p.Ile513Asn) n.773T>A n.6236T>A c.201+1329T>A n.628T>A c.1535T>A (p.Ile512Asn) c.1142T>A (p.Ile381Asn) | |
4 | g.186210601T>C | CA358951250 | CYP4V2,KLKB1 | c.1538T>C (p.Ile513Thr) n.773T>C n.6236T>C c.201+1329T>C n.628T>C c.1535T>C (p.Ile512Thr) c.1142T>C (p.Ile381Thr) | gnomAD v4 |
4 | g.186210601T>G | CA358951253 | CYP4V2,KLKB1 | c.1538T>G (p.Ile513Ser) n.773T>G n.6236T>G c.201+1329T>G n.628T>G c.1535T>G (p.Ile512Ser) c.1142T>G (p.Ile381Ser) | |
4 | g.186210602C>A | CA442641246 | CYP4V2,KLKB1 | c.1539C>A (p.Ile513=) n.774C>A n.6237C>A c.201+1330C>A n.629C>A c.1536C>A (p.Ile512=) c.1143C>A (p.Ile381=) | |
4 | g.186210602C>G | CA358951255 | CYP4V2,KLKB1 | c.1539C>G (p.Ile513Met) n.774C>G n.6237C>G c.201+1330C>G n.629C>G c.1536C>G (p.Ile512Met) c.1143C>G (p.Ile381Met) | gnomAD v4 |
4 | g.186210602C>T | CA442641247 | CYP4V2,KLKB1 | c.1539C>T (p.Ile513=) n.774C>T n.6237C>T c.201+1330C>T n.629C>T c.1536C>T (p.Ile512=) c.1143C>T (p.Ile381=) | gnomAD v4 |
4 | g.186210603T>A | CA358951258 | CYP4V2,KLKB1 | c.1540T>A (p.Trp514Arg) n.775T>A n.6238T>A c.201+1331T>A n.630T>A c.1537T>A (p.Trp513Arg) c.1144T>A (p.Trp382Arg) | |
4 | g.186210603T>C | CA358951261 | CYP4V2,KLKB1 | c.1540T>C (p.Trp514Arg) n.775T>C n.6238T>C c.201+1331T>C n.630T>C c.1537T>C (p.Trp513Arg) c.1144T>C (p.Trp382Arg) | |
4 | g.186210603T>G | CA358951264 | CYP4V2,KLKB1 | c.1540T>G (p.Trp514Gly) n.775T>G n.6238T>G c.201+1331T>G n.630T>G c.1537T>G (p.Trp513Gly) c.1144T>G (p.Trp382Gly) | |
4 | g.186210604G>A | CA358951267 | CYP4V2,KLKB1 | c.1541G>A (p.Trp514Ter) n.776G>A n.6239G>A c.201+1332G>A n.631G>A c.1538G>A (p.Trp513Ter) c.1145G>A (p.Trp382Ter) | |
4 | g.186210604G>C | CA358951268 | CYP4V2,KLKB1 | c.1541G>C (p.Trp514Ser) n.776G>C n.6239G>C c.201+1332G>C n.631G>C c.1538G>C (p.Trp513Ser) c.1145G>C (p.Trp382Ser) | |
4 | g.186210604G>T | CA358951269 | CYP4V2,KLKB1 | c.1541G>T (p.Trp514Leu) n.776G>T n.6239G>T c.201+1332G>T n.631G>T c.1538G>T (p.Trp513Leu) c.1145G>T (p.Trp382Leu) | |
4 | g.186210605G>A | CA358951272 | CYP4V2,KLKB1 | c.1542G>A (p.Trp514Ter) n.777G>A n.6240G>A c.201+1333G>A n.632G>A c.1539G>A (p.Trp513Ter) c.1146G>A (p.Trp382Ter) | |
4 | g.186210605G>C | CA358951274 | CYP4V2,KLKB1 | c.1542G>C (p.Trp514Cys) n.777G>C n.6240G>C c.201+1333G>C n.632G>C c.1539G>C (p.Trp513Cys) c.1146G>C (p.Trp382Cys) | |
4 | g.186210605G>T | CA358951277 | CYP4V2,KLKB1 | c.1542G>T (p.Trp514Cys) n.777G>T n.6240G>T c.201+1333G>T n.632G>T c.1539G>T (p.Trp513Cys) c.1146G>T (p.Trp382Cys) | gnomAD v4 COSMIC |
4 | g.186210606A>C | CA358951283 | CYP4V2,KLKB1 | c.1543A>C (p.Ile515Leu) n.778A>C n.6241A>C c.201+1334A>C n.633A>C c.1540A>C (p.Ile514Leu) c.1147A>C (p.Ile383Leu) | |
4 | g.186210606A>G | CA358951286 | CYP4V2,KLKB1 | c.1543A>G (p.Ile515Val) n.778A>G n.6241A>G c.201+1334A>G n.633A>G c.1540A>G (p.Ile514Val) c.1147A>G (p.Ile383Val) | |
4 | g.186210606A>T | CA358951281 | CYP4V2,KLKB1 | c.1543A>T (p.Ile515Phe) n.778A>T n.6241A>T c.201+1334A>T n.633A>T c.1540A>T (p.Ile514Phe) c.1147A>T (p.Ile383Phe) | |
4 | g.186210607T>A | CA358951290 | CYP4V2,KLKB1 | c.1544T>A (p.Ile515Asn) n.779T>A n.6242T>A c.201+1335T>A n.634T>A c.1541T>A (p.Ile514Asn) c.1148T>A (p.Ile383Asn) | |
4 | g.186210607T>C | CA358951292 | CYP4V2,KLKB1 | c.1544T>C (p.Ile515Thr) n.779T>C n.6242T>C c.201+1335T>C n.634T>C c.1541T>C (p.Ile514Thr) c.1148T>C (p.Ile383Thr) | |
4 | g.186210607T>G | CA358951295 | CYP4V2,KLKB1 | c.1544T>G (p.Ile515Ser) n.779T>G n.6242T>G c.201+1335T>G n.634T>G c.1541T>G (p.Ile514Ser) c.1148T>G (p.Ile383Ser) | |
4 | g.186210608C>A | CA442641248 | CYP4V2,KLKB1 | c.1545C>A (p.Ile515=) n.780C>A n.6243C>A c.201+1336C>A n.635C>A c.1542C>A (p.Ile514=) c.1149C>A (p.Ile383=) | |
4 | g.186210608C= | CA1519892108 | CYP4V2,KLKB1 | c.1545C= (p.Ile515=) n.780C= n.6243C= c.201+1336C= n.635C= c.1542C= (p.Ile514=) c.1149C= (p.Ile383=) | |
4 | g.186210608C>G | CA358951296 | CYP4V2,KLKB1 | c.1545C>G (p.Ile515Met) n.780C>G n.6243C>G c.201+1336C>G n.635C>G c.1542C>G (p.Ile514Met) c.1149C>G (p.Ile383Met) | COSMIC |
4 | g.186210608C>T | CA442641249 | CYP4V2,KLKB1 | c.1545C>T (p.Ile515=) n.780C>T n.6243C>T c.201+1336C>T n.635C>T c.1542C>T (p.Ile514=) c.1149C>T (p.Ile383=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186210609A>C | CA358951299 | CYP4V2,KLKB1 | c.1546A>C (p.Lys516Gln) n.781A>C n.6244A>C c.201+1337A>C n.636A>C c.1543A>C (p.Lys515Gln) c.1150A>C (p.Lys384Gln) | |
4 | g.186210609A>G | CA358951301 | CYP4V2,KLKB1 | c.1546A>G (p.Lys516Glu) n.781A>G n.6244A>G c.201+1337A>G n.636A>G c.1543A>G (p.Lys515Glu) c.1150A>G (p.Lys384Glu) | |
4 | g.186210609A>T | CA358951304 | CYP4V2,KLKB1 | c.1546A>T (p.Lys516Ter) n.781A>T n.6244A>T c.201+1337A>T n.636A>T c.1543A>T (p.Lys515Ter) c.1150A>T (p.Lys384Ter) | |
4 | g.186210610A>C | CA358951306 | CYP4V2,KLKB1 | c.1547A>C (p.Lys516Thr) n.782A>C n.6245A>C c.201+1338A>C n.637A>C c.1544A>C (p.Lys515Thr) c.1151A>C (p.Lys384Thr) | |
4 | g.186210610A>G | CA358951309 | CYP4V2,KLKB1 | c.1547A>G (p.Lys516Arg) n.782A>G n.6245A>G c.201+1338A>G n.637A>G c.1544A>G (p.Lys515Arg) c.1151A>G (p.Lys384Arg) | |
4 | g.186210610A>T | CA358951311 | CYP4V2,KLKB1 | c.1547A>T (p.Lys516Met) n.782A>T n.6245A>T c.201+1338A>T n.637A>T c.1544A>T (p.Lys515Met) c.1151A>T (p.Lys384Met) | |
4 | g.186210611G>A | CA442641250 | CYP4V2,KLKB1 | c.1548G>A (p.Lys516=) n.783G>A n.6246G>A c.201+1339G>A n.638G>A c.1545G>A (p.Lys515=) c.1152G>A (p.Lys384=) | |
4 | g.186210611G>C | CA358951314 | CYP4V2,KLKB1 | c.1548G>C (p.Lys516Asn) n.783G>C n.6246G>C c.201+1339G>C n.638G>C c.1545G>C (p.Lys515Asn) c.1152G>C (p.Lys384Asn) | |
4 | g.186210611G>T | CA358951317 | CYP4V2,KLKB1 | c.1548G>T (p.Lys516Asn) n.783G>T n.6246G>T c.201+1339G>T n.638G>T c.1545G>T (p.Lys515Asn) c.1152G>T (p.Lys384Asn) | |
4 | g.186210612T>A | CA358951320 | CYP4V2,KLKB1 | c.1549T>A (p.Leu517Met) n.784T>A n.6247T>A c.201+1340T>A n.639T>A c.1546T>A (p.Leu516Met) c.1153T>A (p.Leu385Met) | |
4 | g.186210612T>C | CA442641251 | CYP4V2,KLKB1 | c.1549T>C (p.Leu517=) n.784T>C n.6247T>C c.201+1340T>C n.639T>C c.1546T>C (p.Leu516=) c.1153T>C (p.Leu385=) | |
4 | g.186210612T>G | CA358951321 | CYP4V2,KLKB1 | c.1549T>G (p.Leu517Val) n.784T>G n.6247T>G c.201+1340T>G n.639T>G c.1546T>G (p.Leu516Val) c.1153T>G (p.Leu385Val) | |
4 | g.186210613T>A | CA358951324 | CYP4V2,KLKB1 | c.1550T>A (p.Leu517Ter) n.785T>A n.6248T>A c.201+1341T>A n.640T>A c.1547T>A (p.Leu516Ter) c.1154T>A (p.Leu385Ter) | |
4 | g.186210613T>C | CA358951326 | CYP4V2,KLKB1 | c.1550T>C (p.Leu517Ser) n.785T>C n.6248T>C c.201+1341T>C n.640T>C c.1547T>C (p.Leu516Ser) c.1154T>C (p.Leu385Ser) | |
4 | g.186210613T>G | CA358951328 | CYP4V2,KLKB1 | c.1550T>G (p.Leu517Trp) n.785T>G n.6248T>G c.201+1341T>G n.640T>G c.1547T>G (p.Leu516Trp) c.1154T>G (p.Leu385Trp) | |
4 | g.186210614G>A | CA442641252 | CYP4V2,KLKB1 | c.1551G>A (p.Leu517=) n.786G>A n.6249G>A c.201+1342G>A n.641G>A c.1548G>A (p.Leu516=) c.1155G>A (p.Leu385=) | |
4 | g.186210614G>C | CA358951330 | CYP4V2,KLKB1 | c.1551G>C (p.Leu517Phe) n.786G>C n.6249G>C c.201+1342G>C n.641G>C c.1548G>C (p.Leu516Phe) c.1155G>C (p.Leu385Phe) | |
4 | g.186210614G>T | CA358951332 | CYP4V2,KLKB1 | c.1551G>T (p.Leu517Phe) n.786G>T n.6249G>T c.201+1342G>T n.641G>T c.1548G>T (p.Leu516Phe) c.1155G>T (p.Leu385Phe) | |
4 | g.186210617_186210624del | CA2578249743 | CYP4V2,KLKB1 | c.1554_1561del (p.Arg519CysfsTer3) n.789_796del n.6252_6259del c.201+1345_201+1352del n.644_651del c.1551_1558del (p.Arg518CysfsTer3) c.1158_1165del (p.Arg387CysfsTer3) | |
4 | g.186210615A>C | CA358951335 | CYP4V2,KLKB1 | c.1552A>C (p.Lys518Gln) n.787A>C n.6250A>C c.201+1343A>C n.642A>C c.1549A>C (p.Lys517Gln) c.1156A>C (p.Lys386Gln) | |
4 | g.186210615A>G | CA358951338 | CYP4V2,KLKB1 | c.1552A>G (p.Lys518Glu) n.787A>G n.6250A>G c.201+1343A>G n.642A>G c.1549A>G (p.Lys517Glu) c.1156A>G (p.Lys386Glu) | COSMIC |
4 | g.186210615A>T | CA358951340 | CYP4V2,KLKB1 | c.1552A>T (p.Lys518Ter) n.787A>T n.6250A>T c.201+1343A>T n.642A>T c.1549A>T (p.Lys517Ter) c.1156A>T (p.Lys386Ter) | |
4 | g.186210616A= | CA1519892109 | CYP4V2,KLKB1 | c.1553A= (p.Lys518=) n.788A= n.6251A= c.201+1344A= n.643A= c.1550A= (p.Lys517=) c.1157A= (p.Lys386=) | |
4 | g.186210616A>C | CA358951344 | CYP4V2,KLKB1 | c.1553A>C (p.Lys518Thr) n.788A>C n.6251A>C c.201+1344A>C n.643A>C c.1550A>C (p.Lys517Thr) c.1157A>C (p.Lys386Thr) | dbSNP gnomAD v4 |
4 | g.186210616A>G | CA358951345 | CYP4V2,KLKB1 | c.1553A>G (p.Lys518Arg) n.788A>G n.6251A>G c.201+1344A>G n.643A>G c.1550A>G (p.Lys517Arg) c.1157A>G (p.Lys386Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186210616A>T | CA358951348 | CYP4V2,KLKB1 | c.1553A>T (p.Lys518Met) n.788A>T n.6251A>T c.201+1344A>T n.643A>T c.1550A>T (p.Lys517Met) c.1157A>T (p.Lys386Met) | |
4 | g.186210616_186210619delinsAGAG | CA1519892110 | CYP4V2,KLKB1 | c.1553_1556delinsAGAG (p.Lys518=) n.788_791delinsAGAG n.6251_6254delinsAGAG c.201+1344_201+1347delinsAGAG n.643_646delinsAGAG c.1550_1553delinsAGAG (p.Lys517=) c.1157_1160delinsAGAG (p.Lys386=) | |
4 | g.186210617G>A | CA442641253 | CYP4V2,KLKB1 | c.1554G>A (p.Lys518=) n.789G>A n.6252G>A c.201+1345G>A n.644G>A c.1551G>A (p.Lys517=) c.1158G>A (p.Lys386=) | gnomAD v4 |
4 | g.186210617G>C | CA358951357 | CYP4V2,KLKB1 | c.1554G>C (p.Lys518Asn) n.789G>C n.6252G>C c.201+1345G>C n.644G>C c.1551G>C (p.Lys517Asn) c.1158G>C (p.Lys386Asn) | |
4 | g.186210617G>T | CA358951355 | CYP4V2,KLKB1 | c.1554G>T (p.Lys518Asn) n.789G>T n.6252G>T c.201+1345G>T n.644G>T c.1551G>T (p.Lys517Asn) c.1158G>T (p.Lys386Asn) | |
4 | g.186210620_186210622del | CA3162891 | CYP4V2,KLKB1 | c.1557_1559del (p.Arg520del) n.792_794del n.6255_6257del c.201+1348_201+1350del n.647_649del c.1554_1556del (p.Arg519del) c.1161_1163del (p.Arg388del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210618A>C | CA442641254 | CYP4V2,KLKB1 | c.1555A>C (p.Arg519=) n.790A>C n.6253A>C c.201+1346A>C n.645A>C c.1552A>C (p.Arg518=) c.1159A>C (p.Arg387=) | |
4 | g.186210618A>G | CA358951359 | CYP4V2,KLKB1 | c.1555A>G (p.Arg519Gly) n.790A>G n.6253A>G c.201+1346A>G n.645A>G c.1552A>G (p.Arg518Gly) c.1159A>G (p.Arg387Gly) | |
4 | g.186210618A>T | CA358951360 | CYP4V2,KLKB1 | c.1555A>T (p.Arg519Trp) n.790A>T n.6253A>T c.201+1346A>T n.645A>T c.1552A>T (p.Arg518Trp) c.1159A>T (p.Arg387Trp) | |
4 | g.186210619G>A | CA358951364 | CYP4V2,KLKB1 | c.1556G>A (p.Arg519Lys) n.791G>A n.6254G>A c.201+1347G>A n.646G>A c.1553G>A (p.Arg518Lys) c.1160G>A (p.Arg387Lys) | |
4 | g.186210619G>C | CA358951366 | CYP4V2,KLKB1 | c.1556G>C (p.Arg519Thr) n.791G>C n.6254G>C c.201+1347G>C n.646G>C c.1553G>C (p.Arg518Thr) c.1160G>C (p.Arg387Thr) | |
4 | g.186210619G= | CA1519892111 | CYP4V2,KLKB1 | c.1556G= (p.Arg519=) n.791G= n.6254G= c.201+1347G= n.646G= c.1553G= (p.Arg518=) c.1160G= (p.Arg387=) | |
4 | g.186210619G>T | CA358951369 | CYP4V2,KLKB1 | c.1556G>T (p.Arg519Met) n.791G>T n.6254G>T c.201+1347G>T n.646G>T c.1553G>T (p.Arg518Met) c.1160G>T (p.Arg387Met) | dbSNP gnomAD v2 |
4 | g.186210620G>A | CA3162892 | CYP4V2,KLKB1 | c.1557G>A (p.Arg519=) n.792G>A n.6255G>A c.201+1348G>A n.647G>A c.1554G>A (p.Arg518=) c.1161G>A (p.Arg387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210620G>C | CA358951372 | CYP4V2,KLKB1 | c.1557G>C (p.Arg519Ser) n.792G>C n.6255G>C c.201+1348G>C n.647G>C c.1554G>C (p.Arg518Ser) c.1161G>C (p.Arg387Ser) | ClinVar dbSNP gnomAD v4 |
4 | g.186210620G= | CA1519892112 | CYP4V2,KLKB1 | c.1557G= (p.Arg519=) n.792G= n.6255G= c.201+1348G= n.647G= c.1554G= (p.Arg518=) c.1161G= (p.Arg387=) | |
4 | g.186210620G>T | CA358951374 | CYP4V2,KLKB1 | c.1557G>T (p.Arg519Ser) n.792G>T n.6255G>T c.201+1348G>T n.647G>T c.1554G>T (p.Arg518Ser) c.1161G>T (p.Arg387Ser) | |
4 | g.186210621A>C | CA442641255 | CYP4V2,KLKB1 | c.1558A>C (p.Arg520=) n.793A>C n.6256A>C c.201+1349A>C n.648A>C c.1555A>C (p.Arg519=) c.1162A>C (p.Arg388=) | |
4 | g.186210621A>G | CA358951377 | CYP4V2,KLKB1 | c.1558A>G (p.Arg520Gly) n.793A>G n.6256A>G c.201+1349A>G n.648A>G c.1555A>G (p.Arg519Gly) c.1162A>G (p.Arg388Gly) | |
4 | g.186210621A>T | CA358951380 | CYP4V2,KLKB1 | c.1558A>T (p.Arg520Ter) n.793A>T n.6256A>T c.201+1349A>T n.648A>T c.1555A>T (p.Arg519Ter) c.1162A>T (p.Arg388Ter) | |
4 | g.186210622G>A | CA358951383 | CYP4V2,KLKB1 | c.1559G>A (p.Arg520Lys) n.794G>A n.6257G>A c.201+1350G>A n.649G>A c.1556G>A (p.Arg519Lys) c.1163G>A (p.Arg388Lys) | dbSNP |
4 | g.186210622G>C | CA358951385 | CYP4V2,KLKB1 | c.1559G>C (p.Arg520Thr) n.794G>C n.6257G>C c.201+1350G>C n.649G>C c.1556G>C (p.Arg519Thr) c.1163G>C (p.Arg388Thr) | |
4 | g.186210622G= | CA1519892113 | CYP4V2,KLKB1 | c.1559G= (p.Arg520=) n.794G= n.6257G= c.201+1350G= n.649G= c.1556G= (p.Arg519=) c.1163G= (p.Arg388=) | |
4 | g.186210622G>T | CA358951388 | CYP4V2,KLKB1 | c.1559G>T (p.Arg520Ile) n.794G>T n.6257G>T c.201+1350G>T n.649G>T c.1556G>T (p.Arg519Ile) c.1163G>T (p.Arg388Ile) | |
4 | g.186210623A>C | CA358951391 | CYP4V2,KLKB1 | c.1560A>C (p.Arg520Ser) n.795A>C n.6258A>C c.201+1351A>C n.650A>C c.1557A>C (p.Arg519Ser) c.1164A>C (p.Arg388Ser) | |
4 | g.186210623A>G | CA442641256 | CYP4V2,KLKB1 | c.1560A>G (p.Arg520=) n.795A>G n.6258A>G c.201+1351A>G n.650A>G c.1557A>G (p.Arg519=) c.1164A>G (p.Arg388=) | |
4 | g.186210623A>T | CA358951392 | CYP4V2,KLKB1 | c.1560A>T (p.Arg520Ser) n.795A>T n.6258A>T c.201+1351A>T n.650A>T c.1557A>T (p.Arg519Ser) c.1164A>T (p.Arg388Ser) | |
4 | g.186210624A= | CA1519892114 | CYP4V2,KLKB1 | c.1561A= (p.Asn521=) n.796A= n.6259A= c.201+1352A= n.651A= c.1558A= (p.Asn520=) c.1165A= (p.Asn389=) | |
4 | g.186210624A>C | CA358951401 | CYP4V2,KLKB1 | c.1561A>C (p.Asn521His) n.796A>C n.6259A>C c.201+1352A>C n.651A>C c.1558A>C (p.Asn520His) c.1165A>C (p.Asn389His) | |
4 | g.186210624A>G | CA358951399 | CYP4V2,KLKB1 | c.1561A>G (p.Asn521Asp) n.796A>G n.6259A>G c.201+1352A>G n.651A>G c.1558A>G (p.Asn520Asp) c.1165A>G (p.Asn389Asp) | dbSNP gnomAD v4 |
4 | g.186210624A>T | CA3162893 | CYP4V2,KLKB1 | c.1561A>T (p.Asn521Tyr) n.796A>T n.6259A>T c.201+1352A>T n.651A>T c.1558A>T (p.Asn520Tyr) c.1165A>T (p.Asn389Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210625A>C | CA358951404 | CYP4V2,KLKB1 | c.1562A>C (p.Asn521Thr) n.797A>C n.6260A>C c.201+1353A>C n.652A>C c.1559A>C (p.Asn520Thr) c.1166A>C (p.Asn389Thr) | |
4 | g.186210625A>G | CA358951405 | CYP4V2,KLKB1 | c.1562A>G (p.Asn521Ser) n.797A>G n.6260A>G c.201+1353A>G n.652A>G c.1559A>G (p.Asn520Ser) c.1166A>G (p.Asn389Ser) | gnomAD v4 |
4 | g.186210625A>T | CA358951406 | CYP4V2,KLKB1 | c.1562A>T (p.Asn521Ile) n.797A>T n.6260A>T c.201+1353A>T n.652A>T c.1559A>T (p.Asn520Ile) c.1166A>T (p.Asn389Ile) | |
4 | g.186210626T>A | CA358951408 | CYP4V2,KLKB1 | c.1563T>A (p.Asn521Lys) n.798T>A n.6261T>A c.201+1354T>A n.653T>A c.1560T>A (p.Asn520Lys) c.1167T>A (p.Asn389Lys) | |
4 | g.186210626T>C | CA3162894 | CYP4V2,KLKB1 | c.1563T>C (p.Asn521=) n.798T>C n.6261T>C c.201+1354T>C n.653T>C c.1560T>C (p.Asn520=) c.1167T>C (p.Asn389=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210626T>G | CA358951410 | CYP4V2,KLKB1 | c.1563T>G (p.Asn521Lys) n.798T>G n.6261T>G c.201+1354T>G n.653T>G c.1560T>G (p.Asn520Lys) c.1167T>G (p.Asn389Lys) | |
4 | g.186210626T= | CA1519892115 | CYP4V2,KLKB1 | c.1563T= (p.Asn521=) n.798T= n.6261T= c.201+1354T= n.653T= c.1560T= (p.Asn520=) c.1167T= (p.Asn389=) | |
4 | g.186210627G>A | CA358951420 | CYP4V2,KLKB1 | c.1564G>A (p.Ala522Thr) n.799G>A n.6262G>A c.201+1355G>A n.654G>A c.1561G>A (p.Ala521Thr) c.1168G>A (p.Ala390Thr) | |
4 | g.186210627G>C | CA358951412 | CYP4V2,KLKB1 | c.1564G>C (p.Ala522Pro) n.799G>C n.6262G>C c.201+1355G>C n.654G>C c.1561G>C (p.Ala521Pro) c.1168G>C (p.Ala390Pro) | |
4 | g.186210627G>T | CA358951415 | CYP4V2,KLKB1 | c.1564G>T (p.Ala522Ser) n.799G>T n.6262G>T c.201+1355G>T n.654G>T c.1561G>T (p.Ala521Ser) c.1168G>T (p.Ala390Ser) | |
4 | g.186210628C>A | CA358951422 | CYP4V2,KLKB1 | c.1565C>A (p.Ala522Glu) n.800C>A n.6263C>A c.201+1356C>A n.655C>A c.1562C>A (p.Ala521Glu) c.1169C>A (p.Ala390Glu) | |
4 | g.186210628C= | CA1519892116 | CYP4V2,KLKB1 | c.1565C= (p.Ala522=) n.800C= n.6263C= c.201+1356C= n.655C= c.1562C= (p.Ala521=) c.1169C= (p.Ala390=) | |
4 | g.186210628C>G | CA358951423 | CYP4V2,KLKB1 | c.1565C>G (p.Ala522Gly) n.800C>G n.6263C>G c.201+1356C>G n.655C>G c.1562C>G (p.Ala521Gly) c.1169C>G (p.Ala390Gly) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186210628C>T | CA358951425 | CYP4V2,KLKB1 | c.1565C>T (p.Ala522Val) n.800C>T n.6263C>T c.201+1356C>T n.655C>T c.1562C>T (p.Ala521Val) c.1169C>T (p.Ala390Val) | dbSNP gnomAD v2 |
4 | g.186210629A>C | CA442641257 | CYP4V2,KLKB1 | c.1566A>C (p.Ala522=) n.801A>C n.6264A>C c.201+1357A>C n.656A>C c.1563A>C (p.Ala521=) c.1170A>C (p.Ala390=) | |
4 | g.186210629A>G | CA442641258 | CYP4V2,KLKB1 | c.1566A>G (p.Ala522=) n.801A>G n.6264A>G c.201+1357A>G n.656A>G c.1563A>G (p.Ala521=) c.1170A>G (p.Ala390=) | |
4 | g.186210629A>T | CA442641259 | CYP4V2,KLKB1 | c.1566A>T (p.Ala522=) n.801A>T n.6264A>T c.201+1357A>T n.656A>T c.1563A>T (p.Ala521=) c.1170A>T (p.Ala390=) | |
4 | g.186210630G>A | CA3162895 | CYP4V2,KLKB1 | c.1567G>A (p.Asp523Asn) n.802G>A n.6265G>A c.201+1358G>A n.657G>A c.1564G>A (p.Asp522Asn) c.1171G>A (p.Asp391Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210630G>C | CA358951429 | CYP4V2,KLKB1 | c.1567G>C (p.Asp523His) n.802G>C n.6265G>C c.201+1358G>C n.657G>C c.1564G>C (p.Asp522His) c.1171G>C (p.Asp391His) | |
4 | g.186210630G= | CA1519892117 | CYP4V2,KLKB1 | c.1567G= (p.Asp523=) n.802G= n.6265G= c.201+1358G= n.657G= c.1564G= (p.Asp522=) c.1171G= (p.Asp391=) | |
4 | g.186210630G>T | CA358951431 | CYP4V2,KLKB1 | c.1567G>T (p.Asp523Tyr) n.802G>T n.6265G>T c.201+1358G>T n.657G>T c.1564G>T (p.Asp522Tyr) c.1171G>T (p.Asp391Tyr) | |
4 | g.186210631A>C | CA358951442 | CYP4V2,KLKB1 | c.1568A>C (p.Asp523Ala) n.803A>C n.6266A>C c.201+1359A>C n.658A>C c.1565A>C (p.Asp522Ala) c.1172A>C (p.Asp391Ala) | |
4 | g.186210631A>G | CA358951447 | CYP4V2,KLKB1 | c.1568A>G (p.Asp523Gly) n.803A>G n.6266A>G c.201+1359A>G n.658A>G c.1565A>G (p.Asp522Gly) c.1172A>G (p.Asp391Gly) | |
4 | g.186210631A>T | CA358951440 | CYP4V2,KLKB1 | c.1568A>T (p.Asp523Val) n.803A>T n.6266A>T c.201+1359A>T n.658A>T c.1565A>T (p.Asp522Val) c.1172A>T (p.Asp391Val) | gnomAD v4 |
4 | g.186210632T>A | CA358951453 | CYP4V2,KLKB1 | c.1569T>A (p.Asp523Glu) n.804T>A n.6267T>A c.201+1360T>A n.659T>A c.1566T>A (p.Asp522Glu) c.1173T>A (p.Asp391Glu) | |
4 | g.186210632T>C | CA442641260 | CYP4V2,KLKB1 | c.1569T>C (p.Asp523=) n.804T>C n.6267T>C c.201+1360T>C n.659T>C c.1566T>C (p.Asp522=) c.1173T>C (p.Asp391=) | |
4 | g.186210632T>G | CA358951450 | CYP4V2,KLKB1 | c.1569T>G (p.Asp523Glu) n.804T>G n.6267T>G c.201+1360T>G n.659T>G c.1566T>G (p.Asp522Glu) c.1173T>G (p.Asp391Glu) | |
4 | g.186210633G>A | CA358951459 | CYP4V2,KLKB1 | c.1570G>A (p.Glu524Lys) n.805G>A n.6268G>A c.201+1361G>A n.660G>A c.1567G>A (p.Glu523Lys) c.1174G>A (p.Glu392Lys) | |
4 | g.186210633G>C | CA358951457 | CYP4V2,KLKB1 | c.1570G>C (p.Glu524Gln) n.805G>C n.6268G>C c.201+1361G>C n.660G>C c.1567G>C (p.Glu523Gln) c.1174G>C (p.Glu392Gln) | |
4 | g.186210633G>T | CA358951461 | CYP4V2,KLKB1 | c.1570G>T (p.Glu524Ter) n.805G>T n.6268G>T c.201+1361G>T n.660G>T c.1567G>T (p.Glu523Ter) c.1174G>T (p.Glu392Ter) | |
4 | g.186210634A>C | CA358951464 | CYP4V2,KLKB1 | c.1571A>C (p.Glu524Ala) n.806A>C n.6269A>C c.201+1362A>C n.661A>C c.1568A>C (p.Glu523Ala) c.1175A>C (p.Glu392Ala) | COSMIC |
4 | g.186210634A>G | CA358951469 | CYP4V2,KLKB1 | c.1571A>G (p.Glu524Gly) n.806A>G n.6269A>G c.201+1362A>G n.661A>G c.1568A>G (p.Glu523Gly) c.1175A>G (p.Glu392Gly) | |
4 | g.186210634A>T | CA358951465 | CYP4V2,KLKB1 | c.1571A>T (p.Glu524Val) n.806A>T n.6269A>T c.201+1362A>T n.661A>T c.1568A>T (p.Glu523Val) c.1175A>T (p.Glu392Val) | |
4 | g.186210635A>C | CA358951471 | CYP4V2,KLKB1 | c.1572A>C (p.Glu524Asp) n.807A>C n.6270A>C c.201+1363A>C n.662A>C c.1569A>C (p.Glu523Asp) c.1176A>C (p.Glu392Asp) | |
4 | g.186210635A>G | CA442641261 | CYP4V2,KLKB1 | c.1572A>G (p.Glu524=) n.807A>G n.6270A>G c.201+1363A>G n.662A>G c.1569A>G (p.Glu523=) c.1176A>G (p.Glu392=) | |
4 | g.186210635A>T | CA358951472 | CYP4V2,KLKB1 | c.1572A>T (p.Glu524Asp) n.807A>T n.6270A>T c.201+1363A>T n.662A>T c.1569A>T (p.Glu523Asp) c.1176A>T (p.Glu392Asp) | |
4 | g.186210636C>A | CA3162896 | CYP4V2,KLKB1 | c.1573C>A (p.Arg525Ser) n.808C>A n.6271C>A c.201+1364C>A n.663C>A c.1570C>A (p.Arg524Ser) c.1177C>A (p.Arg393Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210636C= | CA1519892118 | CYP4V2,KLKB1 | c.1573C= (p.Arg525=) n.808C= n.6271C= c.201+1364C= n.663C= c.1570C= (p.Arg524=) c.1177C= (p.Arg393=) | |
4 | g.186210636C>G | CA358951477 | CYP4V2,KLKB1 | c.1573C>G (p.Arg525Gly) n.808C>G n.6271C>G c.201+1364C>G n.663C>G c.1570C>G (p.Arg524Gly) c.1177C>G (p.Arg393Gly) | |
4 | g.186210636C>T | CA3162897 | CYP4V2,KLKB1 | c.1573C>T (p.Arg525Cys) n.808C>T n.6271C>T c.201+1364C>T n.663C>T c.1570C>T (p.Arg524Cys) c.1177C>T (p.Arg393Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210637G>A | CA3162898 | CYP4V2,KLKB1 | c.1574G>A (p.Arg525His) n.809G>A n.6272G>A c.201+1365G>A n.664G>A c.1571G>A (p.Arg524His) c.1178G>A (p.Arg393His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210637G>C | CA358951483 | CYP4V2,KLKB1 | c.1574G>C (p.Arg525Pro) n.809G>C n.6272G>C c.201+1365G>C n.664G>C c.1571G>C (p.Arg524Pro) c.1178G>C (p.Arg393Pro) | |
4 | g.186210637G= | CA1519892119 | CYP4V2,KLKB1 | c.1574G= (p.Arg525=) n.809G= n.6272G= c.201+1365G= n.664G= c.1571G= (p.Arg524=) c.1178G= (p.Arg393=) | |
4 | g.186210637G>T | CA358951485 | CYP4V2,KLKB1 | c.1574G>T (p.Arg525Leu) n.809G>T n.6272G>T c.201+1365G>T n.664G>T c.1571G>T (p.Arg524Leu) c.1178G>T (p.Arg393Leu) | |
4 | g.186210638C>A | CA442641262 | CYP4V2,KLKB1 | c.1575C>A (p.Arg525=) n.810C>A n.6273C>A c.201+1366C>A n.665C>A c.1572C>A (p.Arg524=) c.1179C>A (p.Arg393=) | |
4 | g.186210638C>G | CA442641263 | CYP4V2,KLKB1 | c.1575C>G (p.Arg525=) n.810C>G n.6273C>G c.201+1366C>G n.665C>G c.1572C>G (p.Arg524=) c.1179C>G (p.Arg393=) | |
4 | g.186210638C>T | CA442641264 | CYP4V2,KLKB1 | c.1575C>T (p.Arg525=) n.810C>T n.6273C>T c.201+1366C>T n.665C>T c.1572C>T (p.Arg524=) c.1179C>T (p.Arg393=) |