| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.54587200G>A | CA309746440 | LILRA1,LILRA2 | c.1307-1G>A (n.1307-1G>A) c.1256-1G>A (n.1256-1G>A) c.1220-1G>A (n.1220-1G>A) c.298-1G>A c.71-7465G>A (n.71-7465G>A) c.467-1G>A (n.467-1G>A) c.*42-1G>A (n.*42-1G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54587200G>C | CA309746438 | LILRA1,LILRA2 | c.1307-1G>C (n.1307-1G>C) c.1256-1G>C (n.1256-1G>C) c.1220-1G>C (n.1220-1G>C) c.298-1G>C c.71-7465G>C (n.71-7465G>C) c.467-1G>C (n.467-1G>C) c.*42-1G>C (n.*42-1G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54587200G= | CA2342949608 | LILRA1,LILRA2 | c.1307-1G= (n.1307-1G=) c.1256-1G= (n.1256-1G=) c.1220-1G= (n.1220-1G=) c.298-1G= c.71-7465G= (n.71-7465G=) c.467-1G= (n.467-1G=) c.*42-1G= (n.*42-1G=) | |
| 19 | g.54587200G>T | CA407827627 | LILRA1,LILRA2 | c.1307-1G>T (n.1307-1G>T) c.1256-1G>T (n.1256-1G>T) c.1220-1G>T (n.1220-1G>T) c.298-1G>T c.71-7465G>T (n.71-7465G>T) c.467-1G>T (n.467-1G>T) c.*42-1G>T (n.*42-1G>T) | |
| 19 | g.54587201C>A | CA309746444 | LILRA1,LILRA2 | c.1307C>A (p.Thr436Lys) c.1256C>A (p.Ala419Glu) c.1220C>A (p.Ala407Glu) c.298C>A c.71-7464C>A (n.71-7464C>A) c.467C>A (p.Ala156Glu) c.*42C>A (n.*42C>A) | dbSNP |
| 19 | g.54587201C= | CA2342949609 | LILRA1,LILRA2 | c.1307C= (p.Thr436=) c.1256C= (p.Ala419=) c.1220C= (p.Ala407=) c.298C= c.71-7464C= (n.71-7464C=) c.467C= (p.Ala156=) c.*42C= (n.*42C=) | |
| 19 | g.54587201C>G | CA407827631 | LILRA1,LILRA2 | c.1307C>G (p.Thr436Arg) c.1256C>G (p.Ala419Gly) c.1220C>G (p.Ala407Gly) c.298C>G c.71-7464C>G (n.71-7464C>G) c.467C>G (p.Ala156Gly) c.*42C>G (n.*42C>G) | |
| 19 | g.54587201C>T | CA407827632 | LILRA1,LILRA2 | c.1307C>T (p.Thr436Ile) c.1256C>T (p.Ala419Val) c.1220C>T (p.Ala407Val) c.298C>T c.71-7464C>T (n.71-7464C>T) c.467C>T (p.Ala156Val) c.*42C>T (n.*42C>T) | |
| 19 | g.54587201_54587224delinsCATCCCTAGGCCAACACCCCCAGG | CA2342949610 | LILRA1,LILRA2 | c.1307_1330delinsCATCCCTAGGCCAACACCCCCAGG (p.Thr436=) c.1256_1279delinsCATCCCTAGGCCAACACCCCCAGG (p.Ala419=) c.1220_1243delinsCATCCCTAGGCCAACACCCCCAGG (p.Ala407=) c.298_321delinsCATCCCTAGGCCAACACCCCCAGG c.71-7464_71-7441delinsCATCCCTAGGCCAACACCCCCAGG (n.71-7464_71-7441delinsCATCCCTAGGCCAACACCCCCAGG) c.467_490delinsCATCCCTAGGCCAACACCCCCAGG (p.Ala156=) c.*42_*65delinsCATCCCTAGGCCAACACCCCCAGG (n.*42_*65delinsCATCCCTAGGCCAACACCCCCAGG) | |
| 19 | g.54587202A= | CA2342949611 | LILRA1,LILRA2 | c.1308A= (p.Thr436=) c.1257A= (p.Ala419=) c.1221A= (p.Ala407=) c.299A= c.71-7463A= (n.71-7463A=) c.468A= (p.Ala156=) c.*43A= (n.*43A=) | |
| 19 | g.54587202A>C | CA997164376 | LILRA1,LILRA2 | c.1308A>C (p.Thr436=) c.1257A>C (p.Ala419=) c.1221A>C (p.Ala407=) c.299A>C c.71-7463A>C (n.71-7463A>C) c.468A>C (p.Ala156=) c.*43A>C (n.*43A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54587202A>G | CA309746447 | LILRA1,LILRA2 | c.1308A>G (p.Thr436=) c.1257A>G (p.Ala419=) c.1221A>G (p.Ala407=) c.299A>G c.71-7463A>G (n.71-7463A>G) c.468A>G (p.Ala156=) c.*43A>G (n.*43A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54587204_54587226del | CA883620175 | LILRA1,LILRA2 | c.1310_1332del (p.Ser437LeufsTer25) c.1259_1281del (p.Ser420LeufsTer25) c.1223_1245del (p.Ser408LeufsTer25) c.301_323del c.71-7461_71-7439del (n.71-7461_71-7439del) c.470_492del (p.Ser157LeufsTer25) c.*45_*67del (n.*45_*67del) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54587203T>A | CA309746451 | LILRA1,LILRA2 | c.1309T>A (p.Ser437Thr) c.1258T>A (p.Ser420Thr) c.1222T>A (p.Ser408Thr) c.300T>A c.71-7462T>A (n.71-7462T>A) c.469T>A (p.Ser157Thr) c.*44T>A (n.*44T>A) | dbSNP gnomAD v4 |
| 19 | g.54587203T>C | CA407827639 | LILRA1,LILRA2 | c.1309T>C (p.Ser437Pro) c.1258T>C (p.Ser420Pro) c.1222T>C (p.Ser408Pro) c.300T>C c.71-7462T>C (n.71-7462T>C) c.469T>C (p.Ser157Pro) c.*44T>C (n.*44T>C) | |
| 19 | g.54587203T>G | CA407827642 | LILRA1,LILRA2 | c.1309T>G (p.Ser437Ala) c.1258T>G (p.Ser420Ala) c.1222T>G (p.Ser408Ala) c.300T>G c.71-7462T>G (n.71-7462T>G) c.469T>G (p.Ser157Ala) c.*44T>G (n.*44T>G) | |
| 19 | g.54587203T= | CA2342949612 | LILRA1,LILRA2 | c.1309T= (p.Ser437=) c.1258T= (p.Ser420=) c.1222T= (p.Ser408=) c.300T= c.71-7462T= (n.71-7462T=) c.469T= (p.Ser157=) c.*44T= (n.*44T=) | |
| 19 | g.54587204C>A | CA407827645 | LILRA1,LILRA2 | c.1310C>A (p.Ser437Tyr) c.1259C>A (p.Ser420Tyr) c.1223C>A (p.Ser408Tyr) c.301C>A c.71-7461C>A (n.71-7461C>A) c.470C>A (p.Ser157Tyr) c.*45C>A (n.*45C>A) | dbSNP |
| 19 | g.54587204C= | CA2342949613 | LILRA1,LILRA2 | c.1310C= (p.Ser437=) c.1259C= (p.Ser420=) c.1223C= (p.Ser408=) c.301C= c.71-7461C= (n.71-7461C=) c.470C= (p.Ser157=) c.*45C= (n.*45C=) | |
| 19 | g.54587204C>G | CA407827648 | LILRA1,LILRA2 | c.1310C>G (p.Ser437Cys) c.1259C>G (p.Ser420Cys) c.1223C>G (p.Ser408Cys) c.301C>G c.71-7461C>G (n.71-7461C>G) c.470C>G (p.Ser157Cys) c.*45C>G (n.*45C>G) | dbSNP |
| 19 | g.54587204C>T | CA407827650 | LILRA1,LILRA2 | c.1310C>T (p.Ser437Phe) c.1259C>T (p.Ser420Phe) c.1223C>T (p.Ser408Phe) c.301C>T c.71-7461C>T (n.71-7461C>T) c.470C>T (p.Ser157Phe) c.*45C>T (n.*45C>T) | |
| 19 | g.54587205C= | CA2342949614 | LILRA1,LILRA2 | c.1311C= (p.Ser437=) c.1260C= (p.Ser420=) c.1224C= (p.Ser408=) c.302C= c.71-7460C= (n.71-7460C=) c.471C= (p.Ser157=) c.*46C= (n.*46C=) | |
| 19 | g.54587205C>T | CA309746470 | LILRA1,LILRA2 | c.1311C>T (p.Ser437=) c.1260C>T (p.Ser420=) c.1224C>T (p.Ser408=) c.302C>T c.71-7460C>T (n.71-7460C>T) c.471C>T (p.Ser157=) c.*46C>T (n.*46C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54587206C>A | CA407827655 | LILRA1,LILRA2 | c.1312C>A (p.Leu438Ile) c.1261C>A (p.Leu421Ile) c.1225C>A (p.Leu409Ile) c.303C>A c.71-7459C>A (n.71-7459C>A) c.472C>A (p.Leu158Ile) c.*47C>A (n.*47C>A) | |
| 19 | g.54587206C= | CA2342949615 | LILRA1,LILRA2 | c.1312C= (p.Leu438=) c.1261C= (p.Leu421=) c.1225C= (p.Leu409=) c.303C= c.71-7459C= (n.71-7459C=) c.472C= (p.Leu158=) c.*47C= (n.*47C=) | |
| 19 | g.54587206C>G | CA309746472 | LILRA1,LILRA2 | c.1312C>G (p.Leu438Val) c.1261C>G (p.Leu421Val) c.1225C>G (p.Leu409Val) c.303C>G c.71-7459C>G (n.71-7459C>G) c.472C>G (p.Leu158Val) c.*47C>G (n.*47C>G) | dbSNP gnomAD v4 |
| 19 | g.54587206C>T | CA2342949616 | LILRA1,LILRA2 | c.1312C>T (p.Leu438=) c.1261C>T (p.Leu421=) c.1225C>T (p.Leu409=) c.303C>T c.71-7459C>T (n.71-7459C>T) c.472C>T (p.Leu158=) c.*47C>T (n.*47C>T) | dbSNP |
| 19 | g.54587207T>A | CA407827657 | LILRA1,LILRA2 | c.1313T>A (p.Leu438Gln) c.1262T>A (p.Leu421Gln) c.1226T>A (p.Leu409Gln) c.304T>A c.71-7458T>A (n.71-7458T>A) c.473T>A (p.Leu158Gln) c.*48T>A (n.*48T>A) | |
| 19 | g.54587207T>C | CA407827658 | LILRA1,LILRA2 | c.1313T>C (p.Leu438Pro) c.1262T>C (p.Leu421Pro) c.1226T>C (p.Leu409Pro) c.304T>C c.71-7458T>C (n.71-7458T>C) c.473T>C (p.Leu158Pro) c.*48T>C (n.*48T>C) | |
| 19 | g.54587207T>G | CA407827659 | LILRA1,LILRA2 | c.1313T>G (p.Leu438Arg) c.1262T>G (p.Leu421Arg) c.1226T>G (p.Leu409Arg) c.304T>G c.71-7458T>G (n.71-7458T>G) c.473T>G (p.Leu158Arg) c.*48T>G (n.*48T>G) | gnomAD v4 |
| 19 | g.54587209G>A | CA407827662 | LILRA1,LILRA2 | c.1315G>A (p.Gly439Ser) c.1264G>A (p.Gly422Ser) c.1228G>A (p.Gly410Ser) c.306G>A c.71-7456G>A (n.71-7456G>A) c.475G>A (p.Gly159Ser) c.*50G>A (n.*50G>A) | dbSNP gnomAD v4 |
| 19 | g.54587209G>C | CA407827664 | LILRA1,LILRA2 | c.1315G>C (p.Gly439Arg) c.1264G>C (p.Gly422Arg) c.1228G>C (p.Gly410Arg) c.306G>C c.71-7456G>C (n.71-7456G>C) c.475G>C (p.Gly159Arg) c.*50G>C (n.*50G>C) | gnomAD v4 |
| 19 | g.54587209G= | CA2342949617 | LILRA1,LILRA2 | c.1315G= (p.Gly439=) c.1264G= (p.Gly422=) c.1228G= (p.Gly410=) c.306G= c.71-7456G= (n.71-7456G=) c.475G= (p.Gly159=) c.*50G= (n.*50G=) | |
| 19 | g.54587209G>T | CA407827667 | LILRA1,LILRA2 | c.1315G>T (p.Gly439Cys) c.1264G>T (p.Gly422Cys) c.1228G>T (p.Gly410Cys) c.306G>T c.71-7456G>T (n.71-7456G>T) c.475G>T (p.Gly159Cys) c.*50G>T (n.*50G>T) | |
| 19 | g.54587210G>A | CA407827669 | LILRA1,LILRA2 | c.1316G>A (p.Gly439Asp) c.1265G>A (p.Gly422Asp) c.1229G>A (p.Gly410Asp) c.307G>A c.71-7455G>A (n.71-7455G>A) c.476G>A (p.Gly159Asp) c.*51G>A (n.*51G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54587210G>C | CA309746474 | LILRA1,LILRA2 | c.1316G>C (p.Gly439Ala) c.1265G>C (p.Gly422Ala) c.1229G>C (p.Gly410Ala) c.307G>C c.71-7455G>C (n.71-7455G>C) c.476G>C (p.Gly159Ala) c.*51G>C (n.*51G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54587210G= | CA2342949618 | LILRA1,LILRA2 | c.1316G= (p.Gly439=) c.1265G= (p.Gly422=) c.1229G= (p.Gly410=) c.307G= c.71-7455G= (n.71-7455G=) c.476G= (p.Gly159=) c.*51G= (n.*51G=) | |
| 19 | g.54587210G>T | CA407827672 | LILRA1,LILRA2 | c.1316G>T (p.Gly439Val) c.1265G>T (p.Gly422Val) c.1229G>T (p.Gly410Val) c.307G>T c.71-7455G>T (n.71-7455G>T) c.476G>T (p.Gly159Val) c.*51G>T (n.*51G>T) | |
| 19 | g.54587210_54587211del | CA2587140969 | LILRA1,LILRA2 | c.1316_1317del (p.Gly439AlafsTer30) c.1265_1266del (p.Gly422AlafsTer30) c.1229_1230del (p.Gly410AlafsTer30) c.307_308del c.71-7455_71-7454del (n.71-7455_71-7454del) c.476_477del (p.Gly159AlafsTer30) c.*51_*52del (n.*51_*52del) | gnomAD v4 |
| 19 | g.54587212C>A | CA407827675 | LILRA1,LILRA2 | c.1318C>A (p.Gln440Lys) c.1267C>A (p.Gln423Lys) c.1231C>A (p.Gln411Lys) c.309C>A c.71-7453C>A (n.71-7453C>A) c.478C>A (p.Gln160Lys) c.*53C>A (n.*53C>A) | |
| 19 | g.54587212C= | CA2342949619 | LILRA1,LILRA2 | c.1318C= (p.Gln440=) c.1267C= (p.Gln423=) c.1231C= (p.Gln411=) c.309C= c.71-7453C= (n.71-7453C=) c.478C= (p.Gln160=) c.*53C= (n.*53C=) | |
| 19 | g.54587212C>G | CA407827677 | LILRA1,LILRA2 | c.1318C>G (p.Gln440Glu) c.1267C>G (p.Gln423Glu) c.1231C>G (p.Gln411Glu) c.309C>G c.71-7453C>G (n.71-7453C>G) c.478C>G (p.Gln160Glu) c.*53C>G (n.*53C>G) | |
| 19 | g.54587212C>T | CA309746476 | LILRA1,LILRA2 | c.1318C>T (p.Gln440Ter) c.1267C>T (p.Gln423Ter) c.1231C>T (p.Gln411Ter) c.309C>T c.71-7453C>T (n.71-7453C>T) c.478C>T (p.Gln160Ter) c.*53C>T (n.*53C>T) | dbSNP |
| 19 | g.54587213A= | CA2342949620 | LILRA1,LILRA2 | c.1319A= (p.Gln440=) c.1268A= (p.Gln423=) c.1232A= (p.Gln411=) c.310A= c.71-7452A= (n.71-7452A=) c.479A= (p.Gln160=) c.*54A= (n.*54A=) | |
| 19 | g.54587213A>C | CA309746479 | LILRA1,LILRA2 | c.1319A>C (p.Gln440Pro) c.1268A>C (p.Gln423Pro) c.1232A>C (p.Gln411Pro) c.310A>C c.71-7452A>C (n.71-7452A>C) c.479A>C (p.Gln160Pro) c.*54A>C (n.*54A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54587213A>G | CA407827683 | LILRA1,LILRA2 | c.1319A>G (p.Gln440Arg) c.1268A>G (p.Gln423Arg) c.1232A>G (p.Gln411Arg) c.310A>G c.71-7452A>G (n.71-7452A>G) c.479A>G (p.Gln160Arg) c.*54A>G (n.*54A>G) | gnomAD v4 COSMIC COSMIC |
| 19 | g.54587213A>T | CA407827681 | LILRA1,LILRA2 | c.1319A>T (p.Gln440Leu) c.1268A>T (p.Gln423Leu) c.1232A>T (p.Gln411Leu) c.310A>T c.71-7452A>T (n.71-7452A>T) c.479A>T (p.Gln160Leu) c.*54A>T (n.*54A>T) | |
| 19 | g.54587214del | CA2587140974 | LILRA1,LILRA2 | c.1320del (p.Gln440HisfsTer?) c.1269del (p.Gln423HisfsTer?) c.1233del (p.Gln411HisfsTer?) c.311del c.71-7451del (n.71-7451del) c.480del (p.Gln160HisfsTer?) c.*55del (n.*55del) | gnomAD v4 |
| 19 | g.54587213_54587214insCC | CA2587140979 | LILRA1,LILRA2 | c.1319_1320insCC (p.Gln440HisfsTer?) c.1268_1269insCC (p.Gln423HisfsTer?) c.1232_1233insCC (p.Gln411HisfsTer?) c.310_311insCC c.71-7452_71-7451insCC (n.71-7452_71-7451insCC) c.479_480insCC (p.Gln160HisfsTer?) c.*54_*55insCC (n.*54_*55insCC) | gnomAD v4 |
| 19 | g.54587214A= | CA2342949621 | LILRA1,LILRA2 | c.1320A= (p.Gln440=) c.1269A= (p.Gln423=) c.1233A= (p.Gln411=) c.311A= c.71-7451A= (n.71-7451A=) c.480A= (p.Gln160=) c.*55A= (n.*55A=) |