| 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.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.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) | |
| 19 | g.54587223G>T | CA407827733 | LILRA1,LILRA2 | c.1329G>T (p.Gln443His) c.1278G>T (p.Gln426His) c.1242G>T (p.Gln414His) c.320G>T c.71-7442G>T (n.71-7442G>T) c.489G>T (p.Gln163His) c.*64G>T (n.*64G>T) | |
| 19 | g.54587224G>A | CA309746504 | LILRA1,LILRA2 | c.1330G>A (p.Asp444Asn) c.1279G>A (p.Asp427Asn) c.1243G>A (p.Asp415Asn) c.321G>A c.71-7441G>A (n.71-7441G>A) c.490G>A (p.Asp164Asn) c.*65G>A (n.*65G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.54587224G>C | CA407827737 | LILRA1,LILRA2 | c.1330G>C (p.Asp444His) c.1279G>C (p.Asp427His) c.1243G>C (p.Asp415His) c.321G>C c.71-7441G>C (n.71-7441G>C) c.490G>C (p.Asp164His) c.*65G>C (n.*65G>C) | |
| 19 | g.54587224G= | CA2342949628 | LILRA1,LILRA2 | c.1330G= (p.Asp444=) c.1279G= (p.Asp427=) c.1243G= (p.Asp415=) c.321G= c.71-7441G= (n.71-7441G=) c.490G= (p.Asp164=) c.*65G= (n.*65G=) | |
| 19 | g.54587224G>T | CA407827738 | LILRA1,LILRA2 | c.1330G>T (p.Asp444Tyr) c.1279G>T (p.Asp427Tyr) c.1243G>T (p.Asp415Tyr) c.321G>T c.71-7441G>T (n.71-7441G>T) c.490G>T (p.Asp164Tyr) c.*65G>T (n.*65G>T) | |
| 19 | g.54587225A>C | CA407827741 | LILRA1,LILRA2 | c.1331A>C (p.Asp444Ala) c.1280A>C (p.Asp427Ala) c.1244A>C (p.Asp415Ala) c.322A>C c.71-7440A>C (n.71-7440A>C) c.491A>C (p.Asp164Ala) c.*66A>C (n.*66A>C) | |
| 19 | g.54587225A>G | CA407827744 | LILRA1,LILRA2 | c.1331A>G (p.Asp444Gly) c.1280A>G (p.Asp427Gly) c.1244A>G (p.Asp415Gly) c.322A>G c.71-7440A>G (n.71-7440A>G) c.491A>G (p.Asp164Gly) c.*66A>G (n.*66A>G) | |
| 19 | g.54587225A>T | CA407827742 | LILRA1,LILRA2 | c.1331A>T (p.Asp444Val) c.1280A>T (p.Asp427Val) c.1244A>T (p.Asp415Val) c.322A>T c.71-7440A>T (n.71-7440A>T) c.491A>T (p.Asp164Val) c.*66A>T (n.*66A>T) | |
| 19 | g.54587226T>A | CA407827745 | LILRA1,LILRA2 | c.1332T>A (p.Asp444Glu) c.1281T>A (p.Asp427Glu) c.1245T>A (p.Asp415Glu) c.323T>A c.71-7439T>A (n.71-7439T>A) c.492T>A (p.Asp164Glu) c.*67T>A (n.*67T>A) | |
| 19 | g.54587226T>C | CA883620235 | LILRA1,LILRA2 | c.1332T>C (p.Asp444=) c.1281T>C (p.Asp427=) c.1245T>C (p.Asp415=) c.323T>C c.71-7439T>C (n.71-7439T>C) c.492T>C (p.Asp164=) c.*67T>C (n.*67T>C) | dbSNP gnomAD v4 |
| 19 | g.54587226T>G | CA407827747 | LILRA1,LILRA2 | c.1332T>G (p.Asp444Glu) c.1281T>G (p.Asp427Glu) c.1245T>G (p.Asp415Glu) c.323T>G c.71-7439T>G (n.71-7439T>G) c.492T>G (p.Asp164Glu) c.*67T>G (n.*67T>G) | |
| 19 | g.54587226T= | CA2342949629 | LILRA1,LILRA2 | c.1332T= (p.Asp444=) c.1281T= (p.Asp427=) c.1245T= (p.Asp415=) c.323T= c.71-7439T= (n.71-7439T=) c.492T= (p.Asp164=) c.*67T= (n.*67T=) | |
| 19 | g.54587227T>A | CA407827751 | LILRA1,LILRA2 | c.1333T>A (p.Tyr445Asn) c.1282T>A (p.Tyr428Asn) c.1246T>A (p.Tyr416Asn) c.324T>A c.71-7438T>A (n.71-7438T>A) c.493T>A (p.Tyr165Asn) c.*68T>A (n.*68T>A) | |
| 19 | g.54587227T>C | CA309746509 | LILRA1,LILRA2 | c.1333T>C (p.Tyr445His) c.1282T>C (p.Tyr428His) c.1246T>C (p.Tyr416His) c.324T>C c.71-7438T>C (n.71-7438T>C) c.493T>C (p.Tyr165His) c.*68T>C (n.*68T>C) | dbSNP gnomAD v3 gnomAD v4 |