| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.186620636del | CA2668956814 | AHSG | c.810del (p.Val272TrpfsTer?) c.813del (p.Val273TrpfsTer?) c.807del (p.Val271TrpfsTer?) c.726del (p.Val244TrpfsTer?) | gnomAD v4 |
| 3 | g.186620636A= | CA1427019577 | AHSG | c.810A= (p.Thr270=) c.813A= (p.Thr271=) c.807A= (p.Thr269=) c.726A= (p.Thr242=) | |
| 3 | g.186620636A>C | CA2745044 | AHSG | c.810A>C (p.Thr270=) c.813A>C (p.Thr271=) c.807A>C (p.Thr269=) c.726A>C (p.Thr242=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.186620636A>G | CA437358351 | AHSG | c.810A>G (p.Thr270=) c.813A>G (p.Thr271=) c.807A>G (p.Thr269=) c.726A>G (p.Thr242=) | dbSNP |
| 3 | g.186620636A>T | CA437358352 | AHSG | c.810A>T (p.Thr270=) c.813A>T (p.Thr271=) c.807A>T (p.Thr269=) c.726A>T (p.Thr242=) | gnomAD v4 |
| 3 | g.186620640_186620650del | CA2668956815 | AHSG | c.814_824del (p.Val272ArgfsTer?) c.817_827del (p.Val273ArgfsTer?) c.811_821del (p.Val271ArgfsTer?) c.730_740del (p.Val244ArgfsTer?) | gnomAD v4 |
| 3 | g.186620637C>A | CA355715587 | AHSG | c.811C>A (p.Pro271Thr) c.814C>A (p.Pro272Thr) c.808C>A (p.Pro270Thr) c.727C>A (p.Pro243Thr) | gnomAD v4 |
| 3 | g.186620637C>G | CA355715588 | AHSG | c.811C>G (p.Pro271Ala) c.814C>G (p.Pro272Ala) c.808C>G (p.Pro270Ala) c.727C>G (p.Pro243Ala) | |
| 3 | g.186620637C>T | CA355715589 | AHSG | c.811C>T (p.Pro271Ser) c.814C>T (p.Pro272Ser) c.808C>T (p.Pro270Ser) c.727C>T (p.Pro243Ser) | |
| 3 | g.186620639_186620640insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC | CA1057402235 | AHSG | c.813_814insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC (p.Val272ArgfsTer?) c.816_817insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC (p.Val273ArgfsTer?) c.810_811insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC (p.Val271ArgfsTer?) c.729_730insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC (p.Val244ArgfsTer?) | gnomAD v3 gnomAD v4 |
| 3 | g.186620638C>A | CA355715590 | AHSG | c.812C>A (p.Pro271His) c.815C>A (p.Pro272His) c.809C>A (p.Pro270His) c.728C>A (p.Pro243His) | |
| 3 | g.186620638C= | CA1427019578 | AHSG | c.812C= (p.Pro271=) c.815C= (p.Pro272=) c.809C= (p.Pro270=) c.728C= (p.Pro243=) | |
| 3 | g.186620638C>G | CA355715591 | AHSG | c.812C>G (p.Pro271Arg) c.815C>G (p.Pro272Arg) c.809C>G (p.Pro270Arg) c.728C>G (p.Pro243Arg) | |
| 3 | g.186620638C>T | CA355715592 | AHSG | c.812C>T (p.Pro271Leu) c.815C>T (p.Pro272Leu) c.809C>T (p.Pro270Leu) c.728C>T (p.Pro243Leu) | dbSNP gnomAD v4 |
| 3 | g.186620639C>A | CA437358357 | AHSG | c.813C>A (p.Pro271=) c.816C>A (p.Pro272=) c.810C>A (p.Pro270=) c.729C>A (p.Pro243=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.186620639C= | CA1427019579 | AHSG | c.813C= (p.Pro271=) c.816C= (p.Pro272=) c.810C= (p.Pro270=) c.729C= (p.Pro243=) | |
| 3 | g.186620639C>G | CA437358359 | AHSG | c.813C>G (p.Pro271=) c.816C>G (p.Pro272=) c.810C>G (p.Pro270=) c.729C>G (p.Pro243=) | |
| 3 | g.186620639C>T | CA2745045 | AHSG | c.813C>T (p.Pro271=) c.816C>T (p.Pro272=) c.810C>T (p.Pro270=) c.729C>T (p.Pro243=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.186620640G>A | CA2745046 | AHSG | c.814G>A (p.Val272Met) c.817G>A (p.Val273Met) c.811G>A (p.Val271Met) c.730G>A (p.Val244Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.186620640G>C | CA355715593 | AHSG | c.814G>C (p.Val272Leu) c.817G>C (p.Val273Leu) c.811G>C (p.Val271Leu) c.730G>C (p.Val244Leu) | gnomAD v4 |
| 3 | g.186620640G= | CA1427019580 | AHSG | c.814G= (p.Val272=) c.817G= (p.Val273=) c.811G= (p.Val271=) c.730G= (p.Val244=) | |
| 3 | g.186620640G>T | CA355715594 | AHSG | c.814G>T (p.Val272Leu) c.817G>T (p.Val273Leu) c.811G>T (p.Val271Leu) c.730G>T (p.Val244Leu) | |
| 3 | g.186620641T>A | CA355715597 | AHSG | c.815T>A (p.Val272Glu) c.818T>A (p.Val273Glu) c.812T>A (p.Val271Glu) c.731T>A (p.Val244Glu) | |
| 3 | g.186620641T>C | CA355715596 | AHSG | c.815T>C (p.Val272Ala) c.818T>C (p.Val273Ala) c.812T>C (p.Val271Ala) c.731T>C (p.Val244Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.186620641T>G | CA355715595 | AHSG | c.815T>G (p.Val272Gly) c.818T>G (p.Val273Gly) c.812T>G (p.Val271Gly) c.731T>G (p.Val244Gly) | |
| 3 | g.186620641T= | CA1427019581 | AHSG | c.815T= (p.Val272=) c.818T= (p.Val273=) c.812T= (p.Val271=) c.731T= (p.Val244=) | |
| 3 | g.186620642G>A | CA437358364 | AHSG | c.816G>A (p.Val272=) c.819G>A (p.Val273=) c.813G>A (p.Val271=) c.732G>A (p.Val244=) | gnomAD v4 |
| 3 | g.186620642G>C | CA2745047 | AHSG | c.816G>C (p.Val272=) c.819G>C (p.Val273=) c.813G>C (p.Val271=) c.732G>C (p.Val244=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.186620642G= | CA1427019582 | AHSG | c.816G= (p.Val272=) c.819G= (p.Val273=) c.813G= (p.Val271=) c.732G= (p.Val244=) | |
| 3 | g.186620642G>T | CA437358368 | AHSG | c.816G>T (p.Val272=) c.819G>T (p.Val273=) c.813G>T (p.Val271=) c.732G>T (p.Val244=) | |
| 3 | g.186620643G>A | CA2745048 | AHSG | c.817G>A (p.Val273Met) c.820G>A (p.Val274Met) c.814G>A (p.Val272Met) c.733G>A (p.Val245Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.186620643G>C | CA355715598 | AHSG | c.817G>C (p.Val273Leu) c.820G>C (p.Val274Leu) c.814G>C (p.Val272Leu) c.733G>C (p.Val245Leu) | |
| 3 | g.186620643G= | CA1427019583 | AHSG | c.817G= (p.Val273=) c.820G= (p.Val274=) c.814G= (p.Val272=) c.733G= (p.Val245=) | |
| 3 | g.186620643G>T | CA355715599 | AHSG | c.817G>T (p.Val273Leu) c.820G>T (p.Val274Leu) c.814G>T (p.Val272Leu) c.733G>T (p.Val245Leu) | |
| 3 | g.186620644T>A | CA355715600 | AHSG | c.818T>A (p.Val273Glu) c.821T>A (p.Val274Glu) c.815T>A (p.Val272Glu) c.734T>A (p.Val245Glu) | |
| 3 | g.186620644T>C | CA355715601 | AHSG | c.818T>C (p.Val273Ala) c.821T>C (p.Val274Ala) c.815T>C (p.Val272Ala) c.734T>C (p.Val245Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.186620644T>G | CA355715602 | AHSG | c.818T>G (p.Val273Gly) c.821T>G (p.Val274Gly) c.815T>G (p.Val272Gly) c.734T>G (p.Val245Gly) | gnomAD v4 |
| 3 | g.186620644T= | CA1427019584 | AHSG | c.818T= (p.Val273=) c.821T= (p.Val274=) c.815T= (p.Val272=) c.734T= (p.Val245=) | |
| 3 | g.186620645G>A | CA437358373 | AHSG | c.819G>A (p.Val273=) c.822G>A (p.Val274=) c.816G>A (p.Val272=) c.735G>A (p.Val245=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.186620645G>C | CA437358374 | AHSG | c.819G>C (p.Val273=) c.822G>C (p.Val274=) c.816G>C (p.Val272=) c.735G>C (p.Val245=) | |
| 3 | g.186620645G= | CA1427019585 | AHSG | c.819G= (p.Val273=) c.822G= (p.Val274=) c.816G= (p.Val272=) c.735G= (p.Val245=) | |
| 3 | g.186620645G>T | CA437358375 | AHSG | c.819G>T (p.Val273=) c.822G>T (p.Val274=) c.816G>T (p.Val272=) c.735G>T (p.Val245=) | |
| 3 | g.186620646G>A | CA355715605 | AHSG | c.820G>A (p.Asp274Asn) c.823G>A (p.Asp275Asn) c.817G>A (p.Asp273Asn) c.736G>A (p.Asp246Asn) | gnomAD v4 |
| 3 | g.186620646G>C | CA355715603 | AHSG | c.820G>C (p.Asp274His) c.823G>C (p.Asp275His) c.817G>C (p.Asp273His) c.736G>C (p.Asp246His) | |
| 3 | g.186620646G>T | CA355715604 | AHSG | c.820G>T (p.Asp274Tyr) c.823G>T (p.Asp275Tyr) c.817G>T (p.Asp273Tyr) c.736G>T (p.Asp246Tyr) | |
| 3 | g.186620647A>C | CA355715606 | AHSG | c.821A>C (p.Asp274Ala) c.824A>C (p.Asp275Ala) c.818A>C (p.Asp273Ala) c.737A>C (p.Asp246Ala) | |
| 3 | g.186620647A>G | CA355715607 | AHSG | c.821A>G (p.Asp274Gly) c.824A>G (p.Asp275Gly) c.818A>G (p.Asp273Gly) c.737A>G (p.Asp246Gly) | |
| 3 | g.186620647A>T | CA355715608 | AHSG | c.821A>T (p.Asp274Val) c.824A>T (p.Asp275Val) c.818A>T (p.Asp273Val) c.737A>T (p.Asp246Val) | |
| 3 | g.186620648C>A | CA355715609 | AHSG | c.822C>A (p.Asp274Glu) c.825C>A (p.Asp275Glu) c.819C>A (p.Asp273Glu) c.738C>A (p.Asp246Glu) | |
| 3 | g.186620648C>G | CA355715610 | AHSG | c.822C>G (p.Asp274Glu) c.825C>G (p.Asp275Glu) c.819C>G (p.Asp273Glu) c.738C>G (p.Asp246Glu) |