| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.171847_181556del | CA916083461 | ClinVar | ||
| 16 | g.172001_181401del | CA916083462 | ClinVar | ||
| 16 | g.172005_177200del | CA16602274 | ClinVar | ||
| 16 | g.173384_177187del | CA16602246 | ClinVar | ||
| 16 | g.173486C>A | CA393994405 | HBA2 | c.315C>A (p.Cys105Ter) c.219C>A (p.Cys73Ter) n.451C>A | gnomAD v4 |
| 16 | g.173486C>G | CA393994406 | HBA2 | c.315C>G (p.Cys105Trp) c.219C>G (p.Cys73Trp) n.451C>G | |
| 16 | g.173486C>T | CA492785100 | HBA2 | c.315C>T (p.Cys105=) c.219C>T (p.Cys73=) n.451C>T | |
| 16 | g.173487C>A | CA393994408 | HBA2 | c.316C>A (p.Leu106Met) c.220C>A (p.Leu74Met) n.452C>A | |
| 16 | g.173487C>G | CA393994410 | HBA2 | c.316C>G (p.Leu106Val) c.220C>G (p.Leu74Val) n.452C>G | |
| 16 | g.173487C>T | CA492785106 | HBA2 | c.316C>T (p.Leu106=) c.220C>T (p.Leu74=) n.452C>T | |
| 16 | g.173488T>A | CA393994412 | HBA2 | c.317T>A (p.Leu106Gln) c.221T>A (p.Leu74Gln) n.453T>A | |
| 16 | g.173488T>C | CA393994413 | HBA2 | c.317T>C (p.Leu106Pro) c.221T>C (p.Leu74Pro) n.453T>C | |
| 16 | g.173488T>G | CA393994414 | HBA2 | c.317T>G (p.Leu106Arg) c.221T>G (p.Leu74Arg) n.453T>G | |
| 16 | g.173489G>A | CA492785119 | HBA2 | c.318G>A (p.Leu106=) c.222G>A (p.Leu74=) n.454G>A | |
| 16 | g.173489G>C | CA492785121 | HBA2 | c.318G>C (p.Leu106=) c.222G>C (p.Leu74=) n.454G>C | |
| 16 | g.173489G>T | CA492785124 | HBA2 | c.318G>T (p.Leu106=) c.222G>T (p.Leu74=) n.454G>T | |
| 16 | g.173490C>A | CA7770173 | HBA2 | c.319C>A (p.Leu107Met) c.223C>A (p.Leu75Met) n.455C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173490C= | CA2200880900 | HBA2 | c.319C= (p.Leu107=) c.223C= (p.Leu75=) n.455C= | |
| 16 | g.173490C>G | CA393994417 | HBA2 | c.319C>G (p.Leu107Val) c.223C>G (p.Leu75Val) n.455C>G | |
| 16 | g.173490C>T | CA492785128 | HBA2 | c.319C>T (p.Leu107=) c.223C>T (p.Leu75=) n.455C>T | |
| 16 | g.173491T>A | CA393994419 | HBA2 | c.320T>A (p.Leu107Gln) c.224T>A (p.Leu75Gln) n.456T>A | |
| 16 | g.173491T>C | CA393994420 | HBA2 | c.320T>C (p.Leu107Pro) c.224T>C (p.Leu75Pro) n.456T>C | gnomAD v4 |
| 16 | g.173491T>G | CA393994422 | HBA2 | c.320T>G (p.Leu107Arg) c.224T>G (p.Leu75Arg) n.456T>G | gnomAD v4 |
| 16 | g.173491_173492delinsTG | CA2200880901 | HBA2 | c.320_321delinsTG (p.Leu107=) c.224_225delinsTG (p.Leu75=) n.456_457delinsTG | |
| 16 | g.173492G>A | CA492785138 | HBA2 | c.321G>A (p.Leu107=) c.225G>A (p.Leu75=) n.457G>A | |
| 16 | g.173492G>C | CA492785140 | HBA2 | c.321G>C (p.Leu107=) c.225G>C (p.Leu75=) n.457G>C | |
| 16 | g.173492G>T | CA492785143 | HBA2 | c.321G>T (p.Leu107=) c.225G>T (p.Leu75=) n.457G>T | |
| 16 | g.173493del | CA2200880902 | HBA2 | c.322del (p.Val108Ter) c.226del (p.Val76Ter) n.458del | dbSNP |
| 16 | g.173493G>A | CA393994424 | HBA2 | c.322G>A (p.Val108Met) c.226G>A (p.Val76Met) n.458G>A | |
| 16 | g.173493G>C | CA393994425 | HBA2 | c.322G>C (p.Val108Leu) c.226G>C (p.Val76Leu) n.458G>C | |
| 16 | g.173493G>T | CA393994427 | HBA2 | c.322G>T (p.Val108Leu) c.226G>T (p.Val76Leu) n.458G>T | |
| 16 | g.173493_173494delinsGT | CA2200880903 | HBA2 | c.322_323delinsGT (p.Val108=) c.226_227delinsGT (p.Val76=) n.458_459delinsGT | |
| 16 | g.173494del | CA915946213 | HBA2 | c.323del (p.Val108GlyfsTer26) c.227del (p.Val76GlyfsTer26) n.459del | ClinVar dbSNP gnomAD v4 |
| 16 | g.173494T>A | CA393994430 | HBA2 | c.323T>A (p.Val108Glu) c.227T>A (p.Val76Glu) n.459T>A | |
| 16 | g.173494T>C | CA7770174 | HBA2 | c.323T>C (p.Val108Ala) c.227T>C (p.Val76Ala) n.459T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173494T>G | CA393994428 | HBA2 | c.323T>G (p.Val108Gly) c.227T>G (p.Val76Gly) n.459T>G | |
| 16 | g.173494T= | CA2200880904 | HBA2 | c.323T= (p.Val108=) c.227T= (p.Val76=) n.459T= | |
| 16 | g.173495G>A | CA492785149 | HBA2 | c.324G>A (p.Val108=) c.228G>A (p.Val76=) n.460G>A | |
| 16 | g.173495G>C | CA492785152 | HBA2 | c.324G>C (p.Val108=) c.228G>C (p.Val76=) n.460G>C | |
| 16 | g.173495G>T | CA492785161 | HBA2 | c.324G>T (p.Val108=) c.228G>T (p.Val76=) n.460G>T | |
| 16 | g.173496A>C | CA393994432 | HBA2 | c.325A>C (p.Thr109Pro) c.229A>C (p.Thr77Pro) n.461A>C | |
| 16 | g.173496A>G | CA393994434 | HBA2 | c.325A>G (p.Thr109Ala) c.229A>G (p.Thr77Ala) n.461A>G | COSMIC |
| 16 | g.173496A>T | CA393994435 | HBA2 | c.325A>T (p.Thr109Ser) c.229A>T (p.Thr77Ser) n.461A>T | |
| 16 | g.173497C>A | CA7770175 | HBA2 | c.326C>A (p.Thr109Asn) c.230C>A (p.Thr77Asn) n.462C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173497C= | CA2200880905 | HBA2 | c.326C= (p.Thr109=) c.230C= (p.Thr77=) n.462C= | |
| 16 | g.173497C>G | CA393994437 | HBA2 | c.326C>G (p.Thr109Ser) c.230C>G (p.Thr77Ser) n.462C>G | |
| 16 | g.173497C>T | CA393994439 | HBA2 | c.326C>T (p.Thr109Ile) c.230C>T (p.Thr77Ile) n.462C>T | |
| 16 | g.173499del | CA2630737876 | HBA2 | c.328del (p.Leu110TrpfsTer24) c.232del (p.Leu78TrpfsTer24) n.464del | gnomAD v4 |
| 16 | g.173498C>A | CA7770176 | HBA2 | c.327C>A (p.Thr109=) c.231C>A (p.Thr77=) n.463C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.173498C= | CA2200880906 | HBA2 | c.327C= (p.Thr109=) c.231C= (p.Thr77=) n.463C= |