Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.207472877G>A | CA1368791 | CR2 | c.1307G>A (p.Gly436Glu) c.1296G>A c.1676G>A (p.Gly559Glu) c.126G>A (n.126G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207472877G>C | CA344533918 | CR2 | c.1307G>C (p.Gly436Ala) c.1296G>C c.1676G>C (p.Gly559Ala) c.126G>C (n.126G>C) | dbSNP |
1 | g.207472877G= | CA1141940511 | CR2 | c.1307G= (p.Gly436=) c.1296G= c.1676G= (p.Gly559=) c.126G= (n.126G=) | |
1 | g.207472877G>T | CA344533919 | CR2 | c.1307G>T (p.Gly436Val) c.1296G>T c.1676G>T (p.Gly559Val) c.126G>T (n.126G>T) | |
1 | g.207472878G>A | CA423138946 | CR2 | c.1308G>A (p.Gly436=) c.1297G>A c.1677G>A (p.Gly559=) c.127G>A (n.127G>A) | |
1 | g.207472878G>C | CA423138947 | CR2 | c.1308G>C (p.Gly436=) c.1297G>C c.1677G>C (p.Gly559=) c.127G>C (n.127G>C) | |
1 | g.207472878G>T | CA423138948 | CR2 | c.1308G>T (p.Gly436=) c.1297G>T c.1677G>T (p.Gly559=) c.127G>T (n.127G>T) | gnomAD v4 |
1 | g.207472879C>A | CA344533922 | CR2 | c.1309C>A (p.Pro437Thr) c.1298C>A c.1678C>A (p.Pro560Thr) c.128C>A (n.128C>A) | ClinVar dbSNP gnomAD v4 |
1 | g.207472879C= | CA2483411839 | CR2 | c.1309C= (p.Pro437=) c.1298C= c.1678C= (p.Pro560=) c.128C= (n.128C=) | |
1 | g.207472879C>G | CA344533924 | CR2 | c.1309C>G (p.Pro437Ala) c.1298C>G c.1678C>G (p.Pro560Ala) c.128C>G (n.128C>G) | |
1 | g.207472879C>T | CA344533925 | CR2 | c.1309C>T (p.Pro437Ser) c.1298C>T c.1678C>T (p.Pro560Ser) c.128C>T (n.128C>T) | gnomAD v4 |
1 | g.207472880C>A | CA344533928 | CR2 | c.1310C>A (p.Pro437Gln) c.1299C>A c.1679C>A (p.Pro560Gln) c.129C>A (n.129C>A) | |
1 | g.207472880C>G | CA344533930 | CR2 | c.1310C>G (p.Pro437Arg) c.1299C>G c.1679C>G (p.Pro560Arg) c.129C>G (n.129C>G) | |
1 | g.207472880C>T | CA344533931 | CR2 | c.1310C>T (p.Pro437Leu) c.1299C>T c.1679C>T (p.Pro560Leu) c.129C>T (n.129C>T) | |
1 | g.207472881A>C | CA423138949 | CR2 | c.1311A>C (p.Pro437=) c.1300A>C c.1680A>C (p.Pro560=) c.130A>C (n.130A>C) | |
1 | g.207472881A>G | CA423138950 | CR2 | c.1311A>G (p.Pro437=) c.1300A>G c.1680A>G (p.Pro560=) c.130A>G (n.130A>G) | gnomAD v4 |
1 | g.207472881A>T | CA423138951 | CR2 | c.1311A>T (p.Pro437=) c.1300A>T c.1680A>T (p.Pro560=) c.130A>T (n.130A>T) | |
1 | g.207472882G>A | CA344533937 | CR2 | c.1312G>A (p.Glu438Lys) c.1301G>A c.1681G>A (p.Glu561Lys) c.131G>A (n.131G>A) | gnomAD v4 |
1 | g.207472882G>C | CA344533936 | CR2 | c.1312G>C (p.Glu438Gln) c.1301G>C c.1681G>C (p.Glu561Gln) c.131G>C (n.131G>C) | |
1 | g.207472882G>T | CA344533934 | CR2 | c.1312G>T (p.Glu438Ter) c.1301G>T c.1681G>T (p.Glu561Ter) c.131G>T (n.131G>T) | |
1 | g.207472883A>C | CA344533940 | CR2 | c.1313A>C (p.Glu438Ala) c.1302A>C c.1682A>C (p.Glu561Ala) c.132A>C (n.132A>C) | |
1 | g.207472883A>G | CA344533944 | CR2 | c.1313A>G (p.Glu438Gly) c.1302A>G c.1682A>G (p.Glu561Gly) c.132A>G (n.132A>G) | |
1 | g.207472883A>T | CA344533942 | CR2 | c.1313A>T (p.Glu438Val) c.1302A>T c.1682A>T (p.Glu561Val) c.132A>T (n.132A>T) | |
1 | g.207472884A= | CA2483411841 | CR2 | c.1314A= (p.Glu438=) c.1303A= c.1683A= (p.Glu561=) c.133A= (n.133A=) | |
1 | g.207472884A>C | CA344533946 | CR2 | c.1314A>C (p.Glu438Asp) c.1303A>C c.1683A>C (p.Glu561Asp) c.133A>C (n.133A>C) | |
1 | g.207472884A>G | CA423138952 | CR2 | c.1314A>G (p.Glu438=) c.1303A>G c.1683A>G (p.Glu561=) c.133A>G (n.133A>G) | dbSNP gnomAD v4 |
1 | g.207472884A>T | CA344533947 | CR2 | c.1314A>T (p.Glu438Asp) c.1303A>T c.1683A>T (p.Glu561Asp) c.133A>T (n.133A>T) | gnomAD v4 |
1 | g.207472884_207472886delinsAAG | CA2483411840 | CR2 | c.1314_1316delinsAAG (p.Glu438=) c.1303_1305delinsAAG c.1683_1685delinsAAG (p.Glu561=) c.133_135delinsAAG (n.133_135delinsAAG) | |
1 | g.207472885A>C | CA423138953 | CR2 | c.1315A>C (p.Arg439=) c.1304A>C c.1684A>C (p.Arg562=) c.134A>C (n.134A>C) | |
1 | g.207472885A>G | CA344533950 | CR2 | c.1315A>G (p.Arg439Gly) c.1304A>G c.1684A>G (p.Arg562Gly) c.134A>G (n.134A>G) | |
1 | g.207472885A>T | CA344533952 | CR2 | c.1315A>T (p.Arg439Ter) c.1304A>T c.1684A>T (p.Arg562Ter) c.134A>T (n.134A>T) | |
1 | g.207472887_207472888del | CA730656730 | CR2 | c.1317_1318del (p.Gly440SerfsTer17) c.1306_1307del c.1686_1687del (p.Gly563SerfsTer17) c.136_137del (n.136_137del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.207472886G>A | CA1368792 | CR2 | c.1316G>A (p.Arg439Lys) c.1305G>A c.1685G>A (p.Arg562Lys) c.135G>A (n.135G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207472886G>C | CA1368793 | CR2 | c.1316G>C (p.Arg439Thr) c.1305G>C c.1685G>C (p.Arg562Thr) c.135G>C (n.135G>C) | dbSNP ExAC gnomAD v2 |
1 | g.207472886G= | CA1142373311 | CR2 | c.1316G= (p.Arg439=) c.1305G= c.1685G= (p.Arg562=) c.135G= (n.135G=) | |
1 | g.207472886G>T | CA344533957 | CR2 | c.1316G>T (p.Arg439Ile) c.1305G>T c.1685G>T (p.Arg562Ile) c.135G>T (n.135G>T) | |
1 | g.207472887A>C | CA344533959 | CR2 | c.1317A>C (p.Arg439Ser) c.1306A>C c.1686A>C (p.Arg562Ser) c.136A>C (n.136A>C) | |
1 | g.207472887A>G | CA423138954 | CR2 | c.1317A>G (p.Arg439=) c.1306A>G c.1686A>G (p.Arg562=) c.136A>G (n.136A>G) | |
1 | g.207472887A>T | CA344533961 | CR2 | c.1317A>T (p.Arg439Ser) c.1306A>T c.1686A>T (p.Arg562Ser) c.136A>T (n.136A>T) | |
1 | g.207472888G>A | CA1368794 | CR2 | c.1318G>A (p.Gly440Arg) c.1307G>A c.1687G>A (p.Gly563Arg) c.137G>A (n.137G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207472888G>C | CA344533964 | CR2 | c.1318G>C (p.Gly440Arg) c.1307G>C c.1687G>C (p.Gly563Arg) c.137G>C (n.137G>C) | |
1 | g.207472888G= | CA1142222760 | CR2 | c.1318G= (p.Gly440=) c.1307G= c.1687G= (p.Gly563=) c.137G= (n.137G=) | |
1 | g.207472888G>T | CA344533965 | CR2 | c.1318G>T (p.Gly440Ter) c.1307G>T c.1687G>T (p.Gly563Ter) c.137G>T (n.137G>T) | |
1 | g.207472889G>A | CA1368795 | CR2 | c.1319G>A (p.Gly440Glu) c.1308G>A c.1688G>A (p.Gly563Glu) c.138G>A (n.138G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207472889G>C | CA344533969 | CR2 | c.1319G>C (p.Gly440Ala) c.1308G>C c.1688G>C (p.Gly563Ala) c.138G>C (n.138G>C) | |
1 | g.207472889G= | CA1142135130 | CR2 | c.1319G= (p.Gly440=) c.1308G= c.1688G= (p.Gly563=) c.138G= (n.138G=) | |
1 | g.207472889G>T | CA344533970 | CR2 | c.1319G>T (p.Gly440Val) c.1308G>T c.1688G>T (p.Gly563Val) c.138G>T (n.138G>T) | |
1 | g.207472890del | CA2650263602 | CR2 | c.1320del (p.Val441TrpfsTer?) c.1309del c.1689del (p.Val564TrpfsTer?) c.139del (n.139del) | gnomAD v4 |
1 | g.207472890A>C | CA423138955 | CR2 | c.1320A>C (p.Gly440=) c.1309A>C c.1689A>C (p.Gly563=) c.139A>C (n.139A>C) | |
1 | g.207472890A>G | CA423138956 | CR2 | c.1320A>G (p.Gly440=) c.1309A>G c.1689A>G (p.Gly563=) c.139A>G (n.139A>G) |