| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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=) | |
| 19 | g.54587214A>C | CA407827686 | LILRA1,LILRA2 | c.1320A>C (p.Gln440His) c.1269A>C (p.Gln423His) c.1233A>C (p.Gln411His) c.311A>C c.71-7451A>C (n.71-7451A>C) c.480A>C (p.Gln160His) c.*55A>C (n.*55A>C) | COSMIC COSMIC |
| 19 | g.54587214A>G | CA309746481 | LILRA1,LILRA2 | c.1320A>G (p.Gln440=) c.1269A>G (p.Gln423=) c.1233A>G (p.Gln411=) c.311A>G c.71-7451A>G (n.71-7451A>G) c.480A>G (p.Gln160=) c.*55A>G (n.*55A>G) | dbSNP gnomAD v4 |
| 19 | g.54587214A>T | CA407827689 | LILRA1,LILRA2 | c.1320A>T (p.Gln440His) c.1269A>T (p.Gln423His) c.1233A>T (p.Gln411His) c.311A>T c.71-7451A>T (n.71-7451A>T) c.480A>T (p.Gln160His) c.*55A>T (n.*55A>T) | gnomAD v4 |
| 19 | g.54587215C>A | CA407827690 | LILRA1,LILRA2 | c.1321C>A (p.His441Asn) c.1270C>A (p.His424Asn) c.1234C>A (p.His412Asn) c.312C>A c.71-7450C>A (n.71-7450C>A) c.481C>A (p.His161Asn) c.*56C>A (n.*56C>A) | |
| 19 | g.54587215C>G | CA407827693 | LILRA1,LILRA2 | c.1321C>G (p.His441Asp) c.1270C>G (p.His424Asp) c.1234C>G (p.His412Asp) c.312C>G c.71-7450C>G (n.71-7450C>G) c.481C>G (p.His161Asp) c.*56C>G (n.*56C>G) | |
| 19 | g.54587215C>T | CA407827695 | LILRA1,LILRA2 | c.1321C>T (p.His441Tyr) c.1270C>T (p.His424Tyr) c.1234C>T (p.His412Tyr) c.312C>T c.71-7450C>T (n.71-7450C>T) c.481C>T (p.His161Tyr) c.*56C>T (n.*56C>T) | |
| 19 | g.54587216A= | CA2342949622 | LILRA1,LILRA2 | c.1322A= (p.His441=) c.1271A= (p.His424=) c.1235A= (p.His412=) c.313A= c.71-7449A= (n.71-7449A=) c.482A= (p.His161=) c.*57A= (n.*57A=) | |
| 19 | g.54587216A>C | CA407827702 | LILRA1,LILRA2 | c.1322A>C (p.His441Pro) c.1271A>C (p.His424Pro) c.1235A>C (p.His412Pro) c.313A>C c.71-7449A>C (n.71-7449A>C) c.482A>C (p.His161Pro) c.*57A>C (n.*57A>C) | |
| 19 | g.54587216A>G | CA407827700 | LILRA1,LILRA2 | c.1322A>G (p.His441Arg) c.1271A>G (p.His424Arg) c.1235A>G (p.His412Arg) c.313A>G c.71-7449A>G (n.71-7449A>G) c.482A>G (p.His161Arg) c.*57A>G (n.*57A>G) | dbSNP gnomAD v4 |
| 19 | g.54587216A>T | CA407827697 | LILRA1,LILRA2 | c.1322A>T (p.His441Leu) c.1271A>T (p.His424Leu) c.1235A>T (p.His412Leu) c.313A>T c.71-7449A>T (n.71-7449A>T) c.482A>T (p.His161Leu) c.*57A>T (n.*57A>T) | |
| 19 | g.54587217C>A | CA309746484 | LILRA1,LILRA2 | c.1323C>A (p.His441Gln) c.1272C>A (p.His424Gln) c.1236C>A (p.His412Gln) c.314C>A c.71-7448C>A (n.71-7448C>A) c.483C>A (p.His161Gln) c.*58C>A (n.*58C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54587217C= | CA2342949623 | LILRA1,LILRA2 | c.1323C= (p.His441=) c.1272C= (p.His424=) c.1236C= (p.His412=) c.314C= c.71-7448C= (n.71-7448C=) c.483C= (p.His161=) c.*58C= (n.*58C=) | |
| 19 | g.54587217C>G | CA407827706 | LILRA1,LILRA2 | c.1323C>G (p.His441Gln) c.1272C>G (p.His424Gln) c.1236C>G (p.His412Gln) c.314C>G c.71-7448C>G (n.71-7448C>G) c.483C>G (p.His161Gln) c.*58C>G (n.*58C>G) | gnomAD v4 |
| 19 | g.54587217C>T | CA309746487 | LILRA1,LILRA2 | c.1323C>T (p.His441=) c.1272C>T (p.His424=) c.1236C>T (p.His412=) c.314C>T c.71-7448C>T (n.71-7448C>T) c.483C>T (p.His161=) c.*58C>T (n.*58C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54587218C>A | CA309746494 | LILRA1,LILRA2 | c.1324C>A (p.Pro442Thr) c.1273C>A (p.Pro425Thr) c.1237C>A (p.Pro413Thr) c.315C>A c.71-7447C>A (n.71-7447C>A) c.484C>A (p.Pro162Thr) c.*59C>A (n.*59C>A) | dbSNP gnomAD v4 |
| 19 | g.54587218C= | CA2342949624 | LILRA1,LILRA2 | c.1324C= (p.Pro442=) c.1273C= (p.Pro425=) c.1237C= (p.Pro413=) c.315C= c.71-7447C= (n.71-7447C=) c.484C= (p.Pro162=) c.*59C= (n.*59C=) | |
| 19 | g.54587218C>G | CA407827710 | LILRA1,LILRA2 | c.1324C>G (p.Pro442Ala) c.1273C>G (p.Pro425Ala) c.1237C>G (p.Pro413Ala) c.315C>G c.71-7447C>G (n.71-7447C>G) c.484C>G (p.Pro162Ala) c.*59C>G (n.*59C>G) | |
| 19 | g.54587218C>T | CA407827713 | LILRA1,LILRA2 | c.1324C>T (p.Pro442Ser) c.1273C>T (p.Pro425Ser) c.1237C>T (p.Pro413Ser) c.315C>T c.71-7447C>T (n.71-7447C>T) c.484C>T (p.Pro162Ser) c.*59C>T (n.*59C>T) | |
| 19 | g.54587219C>A | CA309746499 | LILRA1,LILRA2 | c.1325C>A (p.Pro442His) c.1274C>A (p.Pro425His) c.1238C>A (p.Pro413His) c.316C>A c.71-7446C>A (n.71-7446C>A) c.485C>A (p.Pro162His) c.*60C>A (n.*60C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54587219C= | CA2342949625 | LILRA1,LILRA2 | c.1325C= (p.Pro442=) c.1274C= (p.Pro425=) c.1238C= (p.Pro413=) c.316C= c.71-7446C= (n.71-7446C=) c.485C= (p.Pro162=) c.*60C= (n.*60C=) | |
| 19 | g.54587219C>G | CA407827718 | LILRA1,LILRA2 | c.1325C>G (p.Pro442Arg) c.1274C>G (p.Pro425Arg) c.1238C>G (p.Pro413Arg) c.316C>G c.71-7446C>G (n.71-7446C>G) c.485C>G (p.Pro162Arg) c.*60C>G (n.*60C>G) | |
| 19 | g.54587219C>T | CA407827717 | LILRA1,LILRA2 | c.1325C>T (p.Pro442Leu) c.1274C>T (p.Pro425Leu) c.1238C>T (p.Pro413Leu) c.316C>T c.71-7446C>T (n.71-7446C>T) c.485C>T (p.Pro162Leu) c.*60C>T (n.*60C>T) | dbSNP gnomAD v4 |
| 19 | g.54587221C>A | CA407827719 | LILRA1,LILRA2 | c.1327C>A (p.Gln443Lys) c.1276C>A (p.Gln426Lys) c.1240C>A (p.Gln414Lys) c.318C>A c.71-7444C>A (n.71-7444C>A) c.487C>A (p.Gln163Lys) c.*62C>A (n.*62C>A) | |
| 19 | g.54587221C= | CA2342949626 | LILRA1,LILRA2 | c.1327C= (p.Gln443=) c.1276C= (p.Gln426=) c.1240C= (p.Gln414=) c.318C= c.71-7444C= (n.71-7444C=) c.487C= (p.Gln163=) c.*62C= (n.*62C=) | |
| 19 | g.54587221C>G | CA309746501 | LILRA1,LILRA2 | c.1327C>G (p.Gln443Glu) c.1276C>G (p.Gln426Glu) c.1240C>G (p.Gln414Glu) c.318C>G c.71-7444C>G (n.71-7444C>G) c.487C>G (p.Gln163Glu) c.*62C>G (n.*62C>G) | dbSNP gnomAD v4 |
| 19 | g.54587221C>T | CA407827720 | LILRA1,LILRA2 | c.1327C>T (p.Gln443Ter) c.1276C>T (p.Gln426Ter) c.1240C>T (p.Gln414Ter) c.318C>T c.71-7444C>T (n.71-7444C>T) c.487C>T (p.Gln163Ter) c.*62C>T (n.*62C>T) | gnomAD v4 |
| 19 | g.54587222A= | CA2342949627 | LILRA1,LILRA2 | c.1328A= (p.Gln443=) c.1277A= (p.Gln426=) c.1241A= (p.Gln414=) c.319A= c.71-7443A= (n.71-7443A=) c.488A= (p.Gln163=) c.*63A= (n.*63A=) | |
| 19 | g.54587222A>C | CA407827723 | LILRA1,LILRA2 | c.1328A>C (p.Gln443Pro) c.1277A>C (p.Gln426Pro) c.1241A>C (p.Gln414Pro) c.319A>C c.71-7443A>C (n.71-7443A>C) c.488A>C (p.Gln163Pro) c.*63A>C (n.*63A>C) | |
| 19 | g.54587222A>G | CA407827726 | LILRA1,LILRA2 | c.1328A>G (p.Gln443Arg) c.1277A>G (p.Gln426Arg) c.1241A>G (p.Gln414Arg) c.319A>G c.71-7443A>G (n.71-7443A>G) c.488A>G (p.Gln163Arg) c.*63A>G (n.*63A>G) | dbSNP |
| 19 | g.54587222A>T | CA407827728 | LILRA1,LILRA2 | c.1328A>T (p.Gln443Leu) c.1277A>T (p.Gln426Leu) c.1241A>T (p.Gln414Leu) c.319A>T c.71-7443A>T (n.71-7443A>T) c.488A>T (p.Gln163Leu) c.*63A>T (n.*63A>T) | |
| 19 | g.54587223G>A | CA645604936 | LILRA1,LILRA2 | c.1329G>A (p.Gln443=) c.1278G>A (p.Gln426=) c.1242G>A (p.Gln414=) c.320G>A c.71-7442G>A (n.71-7442G>A) c.489G>A (p.Gln163=) c.*64G>A (n.*64G>A) | gnomAD v4 COSMIC |
| 19 | g.54587223G>C | CA407827731 | LILRA1,LILRA2 | c.1329G>C (p.Gln443His) c.1278G>C (p.Gln426His) c.1242G>C (p.Gln414His) c.320G>C c.71-7442G>C (n.71-7442G>C) c.489G>C (p.Gln163His) c.*64G>C (n.*64G>C) |