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.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= | |
16 | g.173498C>G | CA492785173 | HBA2 | c.327C>G (p.Thr109=) c.231C>G (p.Thr77=) n.463C>G | |
16 | g.173498C>T | CA492785178 | HBA2 | c.327C>T (p.Thr109=) c.231C>T (p.Thr77=) n.463C>T | |
16 | g.173499C>A | CA393994441 | HBA2 | c.328C>A (p.Leu110Met) c.232C>A (p.Leu78Met) n.464C>A | |
16 | g.173499C= | CA2200880907 | HBA2 | c.328C= (p.Leu110=) c.232C= (p.Leu78=) n.464C= | |
16 | g.173499C>G | CA393994442 | HBA2 | c.328C>G (p.Leu110Val) c.232C>G (p.Leu78Val) n.464C>G | |
16 | g.173499C>T | CA7770177 | HBA2 | c.328C>T (p.Leu110=) c.232C>T (p.Leu78=) n.464C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173500T>A | CA393994445 | HBA2 | c.329T>A (p.Leu110Gln) c.233T>A (p.Leu78Gln) n.465T>A | |
16 | g.173500T>C | CA393994447 | HBA2 | c.329T>C (p.Leu110Pro) c.233T>C (p.Leu78Pro) n.465T>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.173500T>G | CA125561 | HBA2 | c.329T>G (p.Leu110Arg) c.233T>G (p.Leu78Arg) n.465T>G | ClinVar dbSNP |
16 | g.173500T= | CA2200880908 | HBA2 | c.329T= (p.Leu110=) c.233T= (p.Leu78=) n.465T= | |
16 | g.173501G>A | CA492785195 | HBA2 | c.330G>A (p.Leu110=) c.234G>A (p.Leu78=) n.466G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.173501G>C | CA492785194 | HBA2 | c.330G>C (p.Leu110=) c.234G>C (p.Leu78=) n.466G>C | |
16 | g.173501G= | CA2200880909 | HBA2 | c.330G= (p.Leu110=) c.234G= (p.Leu78=) n.466G= | |
16 | g.173501G>T | CA492785190 | HBA2 | c.330G>T (p.Leu110=) c.234G>T (p.Leu78=) n.466G>T | |
16 | g.173502G>A | CA276415312 | HBA2 | c.331G>A (p.Ala111Thr) c.235G>A (p.Ala79Thr) n.467G>A | dbSNP gnomAD v4 |
16 | g.173502G>C | CA393994451 | HBA2 | c.331G>C (p.Ala111Pro) c.235G>C (p.Ala79Pro) n.467G>C | |
16 | g.173502G= | CA2200880910 | HBA2 | c.331G= (p.Ala111=) c.235G= (p.Ala79=) n.467G= | |
16 | g.173502G>T | CA393994449 | HBA2 | c.331G>T (p.Ala111Ser) c.235G>T (p.Ala79Ser) n.467G>T | |
16 | g.173503C>A | CA276415316 | HBA2 | c.332C>A (p.Ala111Asp) c.236C>A (p.Ala79Asp) n.468C>A | dbSNP |