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.173479G>A | CA393994380 | HBA2 | c.308G>A (p.Ser103Asn) c.212G>A (p.Ser71Asn) n.444G>A | gnomAD v4 |
16 | g.173479G>C | CA393994382 | HBA2 | c.308G>C (p.Ser103Thr) c.212G>C (p.Ser71Thr) n.444G>C | |
16 | g.173479G>T | CA393994384 | HBA2 | c.308G>T (p.Ser103Ile) c.212G>T (p.Ser71Ile) n.444G>T | |
16 | g.173480C>A | CA249735 | HBA2 | c.309C>A (p.Ser103Arg) c.213C>A (p.Ser71Arg) n.445C>A | ClinVar dbSNP gnomAD v4 |
16 | g.173480C= | CA2200880895 | HBA2 | c.309C= (p.Ser103=) c.213C= (p.Ser71=) n.445C= | |
16 | g.173480C>G | CA276415282 | HBA2 | c.309C>G (p.Ser103Arg) c.213C>G (p.Ser71Arg) n.445C>G | dbSNP |
16 | g.173480C>T | CA492785074 | HBA2 | c.309C>T (p.Ser103=) c.213C>T (p.Ser71=) n.445C>T | |
16 | g.173481C>A | CA393994388 | HBA2 | c.310C>A (p.His104Asn) c.214C>A (p.His72Asn) n.446C>A | |
16 | g.173481C= | CA2200880896 | HBA2 | c.310C= (p.His104=) c.214C= (p.His72=) n.446C= | |
16 | g.173481C>G | CA393994387 | HBA2 | c.310C>G (p.His104Asp) c.214C>G (p.His72Asp) n.446C>G | |
16 | g.173481C>T | CA125631 | HBA2 | c.310C>T (p.His104Tyr) c.214C>T (p.His72Tyr) n.446C>T | ClinVar dbSNP |
16 | g.173481_173484dup | CA2630737862 | HBA2 | c.310_313dup (p.Cys105SerfsTer?) c.214_217dup (p.Cys73SerfsTer?) n.446_449dup | gnomAD v4 |
16 | g.173482A= | CA2200880897 | HBA2 | c.311A= (p.His104=) c.215A= (p.His72=) n.447A= | |
16 | g.173482A>C | CA393994390 | HBA2 | c.311A>C (p.His104Pro) c.215A>C (p.His72Pro) n.447A>C | |
16 | g.173482A>G | CA276415287 | HBA2 | c.311A>G (p.His104Arg) c.215A>G (p.His72Arg) n.447A>G | ClinVar dbSNP |
16 | g.173482A>T | CA276415290 | HBA2 | c.311A>T (p.His104Leu) c.215A>T (p.His72Leu) n.447A>T | dbSNP |
16 | g.173483C>A | CA393994393 | HBA2 | c.312C>A (p.His104Gln) c.216C>A (p.His72Gln) n.448C>A | |
16 | g.173483C>G | CA393994394 | HBA2 | c.312C>G (p.His104Gln) c.216C>G (p.His72Gln) n.448C>G | |
16 | g.173483C>T | CA492785088 | HBA2 | c.312C>T (p.His104=) c.216C>T (p.His72=) n.448C>T | gnomAD v4 |
16 | g.173484T>A | CA393994396 | HBA2 | c.313T>A (p.Cys105Ser) c.217T>A (p.Cys73Ser) n.449T>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.173484T>C | CA393994398 | HBA2 | c.313T>C (p.Cys105Arg) c.217T>C (p.Cys73Arg) n.449T>C | ClinVar dbSNP gnomAD v4 |
16 | g.173484T>G | CA393994400 | HBA2 | c.313T>G (p.Cys105Gly) c.217T>G (p.Cys73Gly) n.449T>G | dbSNP |
16 | g.173484T= | CA2200880898 | HBA2 | c.313T= (p.Cys105=) c.217T= (p.Cys73=) n.449T= | |
16 | g.173485G>A | CA125601 | HBA2 | c.314G>A (p.Cys105Tyr) c.218G>A (p.Cys73Tyr) n.450G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.173485G>C | CA393994402 | HBA2 | c.314G>C (p.Cys105Ser) c.218G>C (p.Cys73Ser) n.450G>C | |
16 | g.173485G= | CA2200880899 | HBA2 | c.314G= (p.Cys105=) c.218G= (p.Cys73=) n.450G= | |
16 | g.173485G>T | CA393994404 | HBA2 | c.314G>T (p.Cys105Phe) c.218G>T (p.Cys73Phe) n.450G>T | dbSNP gnomAD v2 gnomAD v4 |
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 | ClinVar 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= | |
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 |
16 | g.173503C= | CA2200880911 | HBA2 | c.332C= (p.Ala111=) c.236C= (p.Ala79=) n.468C= | |
16 | g.173503C>G | CA393994452 | HBA2 | c.332C>G (p.Ala111Gly) c.236C>G (p.Ala79Gly) n.468C>G | |
16 | g.173503C>T | CA125599 | HBA2 | c.332C>T (p.Ala111Val) c.236C>T (p.Ala79Val) n.468C>T | ClinVar dbSNP |
16 | g.173504C>A | CA492785199 | HBA2 | c.333C>A (p.Ala111=) c.237C>A (p.Ala79=) n.469C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.173504C= | CA2200880912 | HBA2 | c.333C= (p.Ala111=) c.237C= (p.Ala79=) n.469C= | |
16 | g.173504C>G | CA492785201 | HBA2 | c.333C>G (p.Ala111=) c.237C>G (p.Ala79=) n.469C>G | |
16 | g.173504C>T | CA492785204 | HBA2 | c.333C>T (p.Ala111=) c.237C>T (p.Ala79=) n.469C>T | gnomAD v4 |
16 | g.173505G>A | CA276415321 | HBA2 | c.334G>A (p.Ala112Thr) c.238G>A (p.Ala80Thr) n.470G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.173505G>C | CA393994455 | HBA2 | c.334G>C (p.Ala112Pro) c.238G>C (p.Ala80Pro) n.470G>C | |
16 | g.173505G= | CA2200880913 | HBA2 | c.334G= (p.Ala112=) c.238G= (p.Ala80=) n.470G= | |
16 | g.173505G>T | CA393994456 | HBA2 | c.334G>T (p.Ala112Ser) c.238G>T (p.Ala80Ser) n.470G>T | |
16 | g.173506C>A | CA393994457 | HBA2 | c.335C>A (p.Ala112Asp) c.239C>A (p.Ala80Asp) n.471C>A | |
16 | g.173506C= | CA2200880914 | HBA2 | c.335C= (p.Ala112=) c.239C= (p.Ala80=) n.471C= | |
16 | g.173506C>G | CA393994459 | HBA2 | c.335C>G (p.Ala112Gly) c.239C>G (p.Ala80Gly) n.471C>G | |
16 | g.173506C>T | CA276415325 | HBA2 | c.335C>T (p.Ala112Val) c.239C>T (p.Ala80Val) n.471C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173507C>A | CA492785214 | HBA2 | c.336C>A (p.Ala112=) c.240C>A (p.Ala80=) n.472C>A | |
16 | g.173507C>G | CA492785216 | HBA2 | c.336C>G (p.Ala112=) c.240C>G (p.Ala80=) n.472C>G | |
16 | g.173507C>T | CA492785218 | HBA2 | c.336C>T (p.Ala112=) c.240C>T (p.Ala80=) n.472C>T | |
16 | g.173508C>A | CA276415327 | HBA2 | c.337C>A (p.His113Asn) c.241C>A (p.His81Asn) n.473C>A | dbSNP |
16 | g.173508C= | CA2200880915 | HBA2 | c.337C= (p.His113=) c.241C= (p.His81=) n.473C= | |
16 | g.173508C>G | CA276415330 | HBA2 | c.337C>G (p.His113Asp) c.241C>G (p.His81Asp) n.473C>G | dbSNP gnomAD v4 |
16 | g.173508C>T | CA276415338 | HBA2 | c.337C>T (p.His113Tyr) c.241C>T (p.His81Tyr) n.473C>T | dbSNP gnomAD v4 |
16 | g.173509A= | CA2200880916 | HBA2 | c.338A= (p.His113=) c.242A= (p.His81=) n.474A= | |
16 | g.173509A>C | CA393994463 | HBA2 | c.338A>C (p.His113Pro) c.242A>C (p.His81Pro) n.474A>C | gnomAD v4 |
16 | g.173509A>G | CA276415342 | HBA2 | c.338A>G (p.His113Arg) c.242A>G (p.His81Arg) n.474A>G | dbSNP |
16 | g.173509A>T | CA393994466 | HBA2 | c.338A>T (p.His113Leu) c.242A>T (p.His81Leu) n.474A>T | gnomAD v4 |
16 | g.173510_173521del | CA2695221223 | HBA2 | c.339_350del (p.His113_Glu117delinsGln) c.243_254del (p.His81_Glu85delinsGln) n.475_486del | |
16 | g.173510C>A | CA393994467 | HBA2 | c.339C>A (p.His113Gln) c.243C>A (p.His81Gln) n.475C>A | |
16 | g.173510C= | CA2200880918 | HBA2 | c.339C= (p.His113=) c.243C= (p.His81=) n.475C= | |
16 | g.173510C>G | CA16602270 | HBA2 | c.339C>G (p.His113Gln) c.243C>G (p.His81Gln) n.475C>G | dbSNP |
16 | g.[173510C>G;173511_173522del] | CA645373018 | HBA2 | c.[339C>G;340_351del] (p.[His113Gln;Leu114_Glu117del]) c.[243C>G;244_255del] (p.[His81Gln;Leu82_Glu85del]) n.[475C>G;476_487del] | |
16 | g.173510C>T | CA492785233 | HBA2 | c.339C>T (p.His113=) c.243C>T (p.His81=) n.475C>T | |
16 | g.173511del | CA2695221224 | HBA2 | c.340del (p.Leu114SerfsTer20) c.244del (p.Leu82SerfsTer20) n.476del | |
16 | g.173510_173522delinsCCTCCCCGCCGAG | CA2200880917 | HBA2 | c.339_351delinsCCTCCCCGCCGAG (p.His113=) c.243_255delinsCCTCCCCGCCGAG (p.His81=) n.475_487delinsCCTCCCCGCCGAG | |
16 | g.173511C>A | CA7770178 | HBA2 | c.340C>A (p.Leu114Ile) c.244C>A (p.Leu82Ile) n.476C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.173511C= | CA2200880919 | HBA2 | c.340C= (p.Leu114=) c.244C= (p.Leu82=) n.476C= | |
16 | g.173511C>G | CA393994468 | HBA2 | c.340C>G (p.Leu114Val) c.244C>G (p.Leu82Val) n.476C>G | |
16 | g.173511C>T | CA393994470 | HBA2 | c.340C>T (p.Leu114Phe) c.244C>T (p.Leu82Phe) n.476C>T | gnomAD v4 |
16 | g.173511_173522del | CA16602271 | HBA2 | c.340_351del (p.Leu114_Glu117del) c.244_255del (p.Leu82_Glu85del) n.476_487del | dbSNP |
16 | g.173512T>A | CA276415363 | HBA2 | c.341T>A (p.Leu114His) c.245T>A (p.Leu82His) n.477T>A | dbSNP |
16 | g.173512T>C | CA393994474 | HBA2 | c.341T>C (p.Leu114Pro) c.245T>C (p.Leu82Pro) n.477T>C | |
16 | g.173512T>G | CA125633 | HBA2 | c.341T>G (p.Leu114Arg) c.245T>G (p.Leu82Arg) n.477T>G | ClinVar dbSNP |
16 | g.173512T= | CA2200880920 | HBA2 | c.341T= (p.Leu114=) c.245T= (p.Leu82=) n.477T= | |
16 | g.173512_173513delinsTC | CA2200880921 | HBA2 | c.341_342delinsTC (p.Leu114=) c.245_246delinsTC (p.Leu82=) n.477_478delinsTC | |
16 | g.173513C>A | CA492785243 | HBA2 | c.342C>A (p.Leu114=) c.246C>A (p.Leu82=) n.478C>A | |
16 | g.173513C>G | CA492785244 | HBA2 | c.342C>G (p.Leu114=) c.246C>G (p.Leu82=) n.478C>G | |
16 | g.173513C>T | CA492785246 | HBA2 | c.342C>T (p.Leu114=) c.246C>T (p.Leu82=) n.478C>T | |
16 | g.173515_173516dup | CA2630737884 | HBA2 | c.344_345dup (p.Ala116ProfsTer19) c.248_249dup (p.Ala84ProfsTer19) n.480_481dup | gnomAD v4 |
16 | g.173516del | CA7770179 | HBA2 | c.345del (p.Ala116ProfsTer18) c.249del (p.Ala84ProfsTer18) n.481del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.173514C>A | CA276415374 | HBA2 | c.343C>A (p.Pro115Thr) c.247C>A (p.Pro83Thr) n.479C>A | dbSNP |
16 | g.173514C= | CA2200880923 | HBA2 | c.343C= (p.Pro115=) c.247C= (p.Pro83=) n.479C= | |
16 | g.173514C>G | CA276415377 | HBA2 | c.343C>G (p.Pro115Ala) c.247C>G (p.Pro83Ala) n.479C>G | dbSNP gnomAD v4 |
16 | g.173514C>T | CA7770180 | HBA2 | c.343C>T (p.Pro115Ser) c.247C>T (p.Pro83Ser) n.479C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.173514_173517delinsCCCG | CA2200880922 | HBA2 | c.343_346delinsCCCG (p.Pro115=) c.247_250delinsCCCG (p.Pro83=) n.479_482delinsCCCG | |
16 | g.173515C>A | CA393994482 | HBA2 | c.344C>A (p.Pro115His) c.248C>A (p.Pro83His) n.480C>A | |
16 | g.173515C= | CA2200880924 | HBA2 | c.344C= (p.Pro115=) c.248C= (p.Pro83=) n.480C= | |
16 | g.173515C>G | CA276415384 | HBA2 | c.344C>G (p.Pro115Arg) c.248C>G (p.Pro83Arg) n.480C>G | ClinVar dbSNP |
16 | g.173515C>T | CA276415389 | HBA2 | c.344C>T (p.Pro115Leu) c.248C>T (p.Pro83Leu) n.480C>T | ClinVar dbSNP gnomAD v4 |
16 | g.173518_173520del | CA276415381 | HBA2 | c.347_349del (p.Ala116del) c.251_253del (p.Ala84del) n.483_485del | dbSNP gnomAD v4 |
16 | g.173516C>A | CA492785261 | HBA2 | c.345C>A (p.Pro115=) c.249C>A (p.Pro83=) n.481C>A | |
16 | g.173516C= | CA2200880925 | HBA2 | c.345C= (p.Pro115=) c.249C= (p.Pro83=) n.481C= | |
16 | g.173516C>G | CA492785259 | HBA2 | c.345C>G (p.Pro115=) c.249C>G (p.Pro83=) n.481C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173516C>T | CA492785257 | HBA2 | c.345C>T (p.Pro115=) c.249C>T (p.Pro83=) n.481C>T | dbSNP |
16 | g.173517G>A | CA393994484 | HBA2 | c.346G>A (p.Ala116Thr) c.250G>A (p.Ala84Thr) n.482G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.173517G>C | CA393994486 | HBA2 | c.346G>C (p.Ala116Pro) c.250G>C (p.Ala84Pro) n.482G>C | |
16 | g.173517G= | CA2200880926 | HBA2 | c.346G= (p.Ala116=) c.250G= (p.Ala84=) n.482G= | |
16 | g.173517G>T | CA393994487 | HBA2 | c.346G>T (p.Ala116Ser) c.250G>T (p.Ala84Ser) n.482G>T | |
16 | g.173518C>A | CA276415392 | HBA2 | c.347C>A (p.Ala116Asp) c.251C>A (p.Ala84Asp) n.483C>A | dbSNP gnomAD v4 |
16 | g.173518C= | CA2200880927 | HBA2 | c.347C= (p.Ala116=) c.251C= (p.Ala84=) n.483C= | |
16 | g.173518C>G | CA393994489 | HBA2 | c.347C>G (p.Ala116Gly) c.251C>G (p.Ala84Gly) n.483C>G | |
16 | g.173518C>T | CA393994491 | HBA2 | c.347C>T (p.Ala116Val) c.251C>T (p.Ala84Val) n.483C>T | |
16 | g.173520_173530del | CA2695221225 | HBA2 | c.349_359del (p.Glu117CysfsTer?) c.253_263del (p.Glu85CysfsTer?) n.485_495del | |
16 | g.173519C>A | CA492785272 | HBA2 | c.348C>A (p.Ala116=) c.252C>A (p.Ala84=) n.484C>A | |
16 | g.173519C= | CA2200880928 | HBA2 | c.348C= (p.Ala116=) c.252C= (p.Ala84=) n.484C= | |
16 | g.173519C>G | CA492785275 | HBA2 | c.348C>G (p.Ala116=) c.252C>G (p.Ala84=) n.484C>G | dbSNP |
16 | g.173519C>T | CA492785279 | HBA2 | c.348C>T (p.Ala116=) c.252C>T (p.Ala84=) n.484C>T | |
16 | g.173520G>A | CA276415405 | HBA2 | c.349G>A (p.Glu117Lys) c.253G>A (p.Glu85Lys) n.485G>A | ClinVar dbSNP |
16 | g.173520G>C | CA276415410 | HBA2 | c.349G>C (p.Glu117Gln) c.253G>C (p.Glu85Gln) n.485G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.173520G= | CA2200880929 | HBA2 | c.349G= (p.Glu117=) c.253G= (p.Glu85=) n.485G= | |
16 | g.173520G>T | CA281647 | HBA2 | c.349G>T (p.Glu117Ter) c.253G>T (p.Glu85Ter) n.485G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173521A= | CA2200880930 | HBA2 | c.350A= (p.Glu117=) c.254A= (p.Glu85=) n.486A= | |
16 | g.173521A>C | CA276415415 | HBA2 | c.350A>C (p.Glu117Ala) c.254A>C (p.Glu85Ala) n.486A>C | dbSNP |
16 | g.173521A>G | CA393994494 | HBA2 | c.350A>G (p.Glu117Gly) c.254A>G (p.Glu85Gly) n.486A>G | |
16 | g.173521A>T | CA276415416 | HBA2 | c.350A>T (p.Glu117Val) c.254A>T (p.Glu85Val) n.486A>T | dbSNP |
16 | g.173522G>A | CA492785296 | HBA2 | c.351G>A (p.Glu117=) c.255G>A (p.Glu85=) n.487G>A | |
16 | g.173522G>C | CA393994496 | HBA2 | c.351G>C (p.Glu117Asp) c.255G>C (p.Glu85Asp) n.487G>C | |
16 | g.173522G>T | CA393994497 | HBA2 | c.351G>T (p.Glu117Asp) c.255G>T (p.Glu85Asp) n.487G>T | |
16 | g.173523T>A | CA276415420 | HBA2 | c.352T>A (p.Phe118Ile) c.256T>A (p.Phe86Ile) n.488T>A | dbSNP |
16 | g.173523T>C | CA393994501 | HBA2 | c.352T>C (p.Phe118Leu) c.256T>C (p.Phe86Leu) n.488T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.173523T>G | CA393994499 | HBA2 | c.352T>G (p.Phe118Val) c.256T>G (p.Phe86Val) n.488T>G | |
16 | g.173523T= | CA2200880931 | HBA2 | c.352T= (p.Phe118=) c.256T= (p.Phe86=) n.488T= | |
16 | g.173524T>A | CA393994503 | HBA2 | c.353T>A (p.Phe118Tyr) c.257T>A (p.Phe86Tyr) n.489T>A | |
16 | g.173524T>C | CA393994505 | HBA2 | c.353T>C (p.Phe118Ser) c.257T>C (p.Phe86Ser) n.489T>C | |
16 | g.173524T>G | CA393994507 | HBA2 | c.353T>G (p.Phe118Cys) c.257T>G (p.Phe86Cys) n.489T>G | |
16 | g.173525C>A | CA393994508 | HBA2 | c.354C>A (p.Phe118Leu) c.258C>A (p.Phe86Leu) n.490C>A | |
16 | g.173525C>G | CA393994510 | HBA2 | c.354C>G (p.Phe118Leu) c.258C>G (p.Phe86Leu) n.490C>G | |
16 | g.173525C>T | CA492785312 | HBA2 | c.354C>T (p.Phe118=) c.258C>T (p.Phe86=) n.490C>T | |
16 | g.173526A>C | CA393994512 | HBA2 | c.355A>C (p.Thr119Pro) c.259A>C (p.Thr87Pro) n.491A>C | |
16 | g.173526A>G | CA393994514 | HBA2 | c.355A>G (p.Thr119Ala) c.259A>G (p.Thr87Ala) n.491A>G | |
16 | g.173526A>T | CA393994515 | HBA2 | c.355A>T (p.Thr119Ser) c.259A>T (p.Thr87Ser) n.491A>T | |
16 | g.173526_173527delinsAC | CA2200880932 | HBA2 | c.355_356delinsAC (p.Thr119=) c.259_260delinsAC (p.Thr87=) n.491_492delinsAC | |
16 | g.173527C>A | CA393994516 | HBA2 | c.356C>A (p.Thr119Asn) c.260C>A (p.Thr87Asn) n.492C>A | gnomAD v4 |
16 | g.173527C= | CA2200880933 | HBA2 | c.356C= (p.Thr119=) c.260C= (p.Thr87=) n.492C= | |
16 | g.173527C>G | CA393994517 | HBA2 | c.356C>G (p.Thr119Ser) c.260C>G (p.Thr87Ser) n.492C>G | |
16 | g.173527C>T | CA393994518 | HBA2 | c.356C>T (p.Thr119Ile) c.260C>T (p.Thr87Ile) n.492C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.173530del | CA620304415 | HBA2 | c.359del (p.Pro120LeufsTer14) c.263del (p.Pro88LeufsTer14) n.495del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173528C>A | CA492785325 | HBA2 | c.357C>A (p.Thr119=) c.261C>A (p.Thr87=) n.493C>A | |
16 | g.173528C= | CA2200880934 | HBA2 | c.357C= (p.Thr119=) c.261C= (p.Thr87=) n.493C= | |
16 | g.173528C>G | CA492785329 | HBA2 | c.357C>G (p.Thr119=) c.261C>G (p.Thr87=) n.493C>G | |
16 | g.173528C>T | CA276415421 | HBA2 | c.357C>T (p.Thr119=) c.261C>T (p.Thr87=) n.493C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173529C>A | CA393994521 | HBA2 | c.358C>A (p.Pro120Thr) c.262C>A (p.Pro88Thr) n.494C>A | gnomAD v4 |
16 | g.173529C= | CA2200880935 | HBA2 | c.358C= (p.Pro120=) c.262C= (p.Pro88=) n.494C= | |
16 | g.173529C>G | CA393994520 | HBA2 | c.358C>G (p.Pro120Ala) c.262C>G (p.Pro88Ala) n.494C>G | ClinVar dbSNP gnomAD v4 |
16 | g.173529C>T | CA393994519 | HBA2 | c.358C>T (p.Pro120Ser) c.262C>T (p.Pro88Ser) n.494C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.173530C>A | CA393994523 | HBA2 | c.359C>A (p.Pro120His) c.263C>A (p.Pro88His) n.495C>A | |
16 | g.173530C= | CA2200880936 | HBA2 | c.359C= (p.Pro120=) c.263C= (p.Pro88=) n.495C= | |
16 | g.173530C>G | CA393994524 | HBA2 | c.359C>G (p.Pro120Arg) c.263C>G (p.Pro88Arg) n.495C>G | |
16 | g.173530C>T | CA276415422 | HBA2 | c.359C>T (p.Pro120Leu) c.263C>T (p.Pro88Leu) n.495C>T | dbSNP |
16 | g.173531T>A | CA492785340 | HBA2 | c.360T>A (p.Pro120=) c.264T>A (p.Pro88=) n.496T>A | gnomAD v4 |
16 | g.173531T>C | CA492785342 | HBA2 | c.360T>C (p.Pro120=) c.264T>C (p.Pro88=) n.496T>C | dbSNP gnomAD v4 |
16 | g.173531T>G | CA492785345 | HBA2 | c.360T>G (p.Pro120=) c.264T>G (p.Pro88=) n.496T>G | |
16 | g.173531T= | CA2200880937 | HBA2 | c.360T= (p.Pro120=) c.264T= (p.Pro88=) n.496T= | |
16 | g.173532G>A | CA393994526 | HBA2 | c.361G>A (p.Ala121Thr) c.265G>A (p.Ala89Thr) n.497G>A | |
16 | g.173532G>C | CA393994527 | HBA2 | c.361G>C (p.Ala121Pro) c.265G>C (p.Ala89Pro) n.497G>C | gnomAD v4 |
16 | g.173532G>T | CA393994529 | HBA2 | c.361G>T (p.Ala121Ser) c.265G>T (p.Ala89Ser) n.497G>T | |
16 | g.173532_173533delinsGC | CA2200880938 | HBA2 | c.361_362delinsGC (p.Ala121=) c.265_266delinsGC (p.Ala89=) n.497_498delinsGC | |
16 | g.173533del | CA718603791 | HBA2 | c.362del (p.Ala121GlyfsTer13) c.266del (p.Ala89GlyfsTer13) n.498del | dbSNP gnomAD v3 gnomAD v4 |
16 | g.173533C>A | CA276415423 | HBA2 | c.362C>A (p.Ala121Glu) c.266C>A (p.Ala89Glu) n.498C>A | dbSNP |
16 | g.173533C= | CA2200880939 | HBA2 | c.362C= (p.Ala121=) c.266C= (p.Ala89=) n.498C= | |
16 | g.173533C>G | CA393994531 | HBA2 | c.362C>G (p.Ala121Gly) c.266C>G (p.Ala89Gly) n.498C>G | |
16 | g.173533C>T | CA393994533 | HBA2 | c.362C>T (p.Ala121Val) c.266C>T (p.Ala89Val) n.498C>T | gnomAD v4 |
16 | g.173534G>A | CA492785355 | HBA2 | c.363G>A (p.Ala121=) c.267G>A (p.Ala89=) n.499G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.173534G>C | CA492785357 | HBA2 | c.363G>C (p.Ala121=) c.267G>C (p.Ala89=) n.499G>C | |
16 | g.173534G= | CA2200880940 | HBA2 | c.363G= (p.Ala121=) c.267G= (p.Ala89=) n.499G= | |
16 | g.173534G>T | CA492785359 | HBA2 | c.363G>T (p.Ala121=) c.267G>T (p.Ala89=) n.499G>T | gnomAD v4 |
16 | g.173535_173537dup | CA620304416 | HBA2 | c.364_366dup (p.Val122_His123insVal) c.268_270dup (p.Val90_His91insVal) n.500_502dup | dbSNP gnomAD v2 gnomAD v4 |
16 | g.173535G>A | CA276415424 | HBA2 | c.364G>A (p.Val122Met) c.268G>A (p.Val90Met) n.500G>A | dbSNP |
16 | g.173535G>C | CA393994535 | HBA2 | c.364G>C (p.Val122Leu) c.268G>C (p.Val90Leu) n.500G>C | |
16 | g.173535G= | CA2200880941 | HBA2 | c.364G= (p.Val122=) c.268G= (p.Val90=) n.500G= | |
16 | g.173535G>T | CA393994536 | HBA2 | c.364G>T (p.Val122Leu) c.268G>T (p.Val90Leu) n.500G>T | |
16 | g.173536T>A | CA393994539 | HBA2 | c.365T>A (p.Val122Glu) c.269T>A (p.Val90Glu) n.501T>A | |
16 | g.173536T>C | CA393994540 | HBA2 | c.365T>C (p.Val122Ala) c.269T>C (p.Val90Ala) n.501T>C | |
16 | g.173536T>G | CA393994542 | HBA2 | c.365T>G (p.Val122Gly) c.269T>G (p.Val90Gly) n.501T>G | |
16 | g.173537G>A | CA492785374 | HBA2 | c.366G>A (p.Val122=) c.270G>A (p.Val90=) n.502G>A | |
16 | g.173537G>C | CA492785372 | HBA2 | c.366G>C (p.Val122=) c.270G>C (p.Val90=) n.502G>C | gnomAD v4 |
16 | g.173537G>T | CA492785373 | HBA2 | c.366G>T (p.Val122=) c.270G>T (p.Val90=) n.502G>T | |
16 | g.173538C>A | CA393994546 | HBA2 | c.367C>A (p.His123Asn) c.271C>A (p.His91Asn) n.503C>A | |
16 | g.173538C>G | CA393994543 | HBA2 | c.367C>G (p.His123Asp) c.271C>G (p.His91Asp) n.503C>G | |
16 | g.173538C>T | CA393994544 | HBA2 | c.367C>T (p.His123Tyr) c.271C>T (p.His91Tyr) n.503C>T | |
16 | g.173539A= | CA2200880942 | HBA2 | c.368A= (p.His123=) c.272A= (p.His91=) n.504A= | |
16 | g.173539A>C | CA393994548 | HBA2 | c.368A>C (p.His123Pro) c.272A>C (p.His91Pro) n.504A>C | |
16 | g.173539A>G | CA393994549 | HBA2 | c.368A>G (p.His123Arg) c.272A>G (p.His91Arg) n.504A>G | |
16 | g.173539A>T | CA276415426 | HBA2 | c.368A>T (p.His123Leu) c.272A>T (p.His91Leu) n.504A>T | dbSNP |
16 | g.173540C>A | CA393994551 | HBA2 | c.369C>A (p.His123Gln) c.273C>A (p.His91Gln) n.505C>A | ClinVar dbSNP gnomAD v2 |
16 | g.173540C= | CA2200880943 | HBA2 | c.369C= (p.His123=) c.273C= (p.His91=) n.505C= | |
16 | g.173540C>G | CA7770181 | HBA2 | c.369C>G (p.His123Gln) c.273C>G (p.His91Gln) n.505C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.173540C>T | CA492785390 | HBA2 | c.369C>T (p.His123=) c.273C>T (p.His91=) n.505C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173540_173541delinsGA | CA2695221226 | HBA2 | c.369_370delinsGA (p.His123_Ala124delinsGlnThr) c.273_274delinsGA (p.His91_Ala92delinsGlnThr) n.505_506delinsGA | |
16 | g.173541G>A | CA276415429 | HBA2 | c.370G>A (p.Ala124Thr) c.274G>A (p.Ala92Thr) n.506G>A | dbSNP |
16 | g.173541G>C | CA393994554 | HBA2 | c.370G>C (p.Ala124Pro) c.274G>C (p.Ala92Pro) n.506G>C | |
16 | g.173541G= | CA2200880944 | HBA2 | c.370G= (p.Ala124=) c.274G= (p.Ala92=) n.506G= | |
16 | g.173541G>T | CA276415431 | HBA2 | c.370G>T (p.Ala124Ser) c.274G>T (p.Ala92Ser) n.506G>T | dbSNP |
16 | g.173542C>A | CA393994557 | HBA2 | c.371C>A (p.Ala124Asp) c.275C>A (p.Ala92Asp) n.507C>A | |
16 | g.173542C>G | CA393994559 | HBA2 | c.371C>G (p.Ala124Gly) c.275C>G (p.Ala92Gly) n.507C>G | |
16 | g.173542C>T | CA393994560 | HBA2 | c.371C>T (p.Ala124Val) c.275C>T (p.Ala92Val) n.507C>T | |
16 | g.173543C>A | CA492785400 | HBA2 | c.372C>A (p.Ala124=) c.276C>A (p.Ala92=) n.508C>A | |
16 | g.173543C= | CA2200880945 | HBA2 | c.372C= (p.Ala124=) c.276C= (p.Ala92=) n.508C= | |
16 | g.173543C>G | CA492785403 | HBA2 | c.372C>G (p.Ala124=) c.276C>G (p.Ala92=) n.508C>G | |
16 | g.173543C>T | CA492785404 | HBA2 | c.372C>T (p.Ala124=) c.276C>T (p.Ala92=) n.508C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.173544T>A | CA393994565 | HBA2 | c.373T>A (p.Ser125Thr) c.277T>A (p.Ser93Thr) n.509T>A | dbSNP |
16 | g.173544T>C | CA276415434 | HBA2 | c.373T>C (p.Ser125Pro) c.277T>C (p.Ser93Pro) n.509T>C | dbSNP gnomAD v4 |
16 | g.173544T>G | CA393994562 | HBA2 | c.373T>G (p.Ser125Ala) c.277T>G (p.Ser93Ala) n.509T>G | |
16 | g.173544T= | CA2200880946 | HBA2 | c.373T= (p.Ser125=) c.277T= (p.Ser93=) n.509T= | |
16 | g.173545C>A | CA393994567 | HBA2 | c.374C>A (p.Ser125Tyr) c.278C>A (p.Ser93Tyr) n.510C>A | |
16 | g.173545C>G | CA393994569 | HBA2 | c.374C>G (p.Ser125Cys) c.278C>G (p.Ser93Cys) n.510C>G | |
16 | g.173545C>T | CA393994571 | HBA2 | c.374C>T (p.Ser125Phe) c.278C>T (p.Ser93Phe) n.510C>T | gnomAD v4 COSMIC |
16 | g.173547dup | CA2695221227 | HBA2 | c.376dup (p.Leu126ProfsTer?) c.280dup (p.Leu94ProfsTer?) n.512dup | |
16 | g.173546C>A | CA492785415 | HBA2 | c.375C>A (p.Ser125=) c.279C>A (p.Ser93=) n.511C>A | |
16 | g.173546C= | CA2200880947 | HBA2 | c.375C= (p.Ser125=) c.279C= (p.Ser93=) n.511C= | |
16 | g.173546C>G | CA7770182 | HBA2 | c.375C>G (p.Ser125=) c.279C>G (p.Ser93=) n.511C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173546C>T | CA492785420 | HBA2 | c.375C>T (p.Ser125=) c.279C>T (p.Ser93=) n.511C>T | |
16 | g.173547C>A | CA393994573 | HBA2 | c.376C>A (p.Leu126Met) c.280C>A (p.Leu94Met) n.512C>A | |
16 | g.173547C>G | CA393994575 | HBA2 | c.376C>G (p.Leu126Val) c.280C>G (p.Leu94Val) n.512C>G | |
16 | g.173547C>T | CA492785423 | HBA2 | c.376C>T (p.Leu126=) c.280C>T (p.Leu94=) n.512C>T | dbSNP |
16 | g.173548T>A | CA276415438 | HBA2 | c.377T>A (p.Leu126Gln) c.281T>A (p.Leu94Gln) n.513T>A | ClinVar dbSNP |
16 | g.173548T>C | CA125557 | HBA2 | c.377T>C (p.Leu126Pro) c.281T>C (p.Leu94Pro) n.513T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173548T>G | CA125658 | HBA2 | c.377T>G (p.Leu126Arg) c.281T>G (p.Leu94Arg) n.513T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173548T= | CA2200880948 | HBA2 | c.377T= (p.Leu126=) c.281T= (p.Leu94=) n.513T= | |
16 | g.173549G>A | CA492785432 | HBA2 | c.378G>A (p.Leu126=) c.282G>A (p.Leu94=) n.514G>A | |
16 | g.173549G>C | CA492785433 | HBA2 | c.378G>C (p.Leu126=) c.282G>C (p.Leu94=) n.514G>C | |
16 | g.173549G>T | CA492785434 | HBA2 | c.378G>T (p.Leu126=) c.282G>T (p.Leu94=) n.514G>T | |
16 | g.173550G>A | CA125612 | HBA2 | c.379G>A (p.Asp127Asn) c.283G>A (p.Asp95Asn) n.515G>A | ClinVar dbSNP gnomAD v4 |
16 | g.173550G>C | CA276415450 | HBA2 | c.379G>C (p.Asp127His) c.283G>C (p.Asp95His) n.515G>C | dbSNP |
16 | g.173550G= | CA2200880949 | HBA2 | c.379G= (p.Asp127=) c.283G= (p.Asp95=) n.515G= | |
16 | g.173550G>T | CA276415446 | HBA2 | c.379G>T (p.Asp127Tyr) c.283G>T (p.Asp95Tyr) n.515G>T | ClinVar dbSNP COSMIC |
16 | g.173551A= | CA2200880950 | HBA2 | c.380A= (p.Asp127=) c.284A= (p.Asp95=) n.516A= | |
16 | g.173551A>C | CA393994579 | HBA2 | c.380A>C (p.Asp127Ala) c.284A>C (p.Asp95Ala) n.516A>C | |
16 | g.173551A>G | CA276415454 | HBA2 | c.380A>G (p.Asp127Gly) c.284A>G (p.Asp95Gly) n.516A>G | ClinVar dbSNP |
16 | g.173551A>T | CA276415455 | HBA2 | c.380A>T (p.Asp127Val) c.284A>T (p.Asp95Val) n.516A>T | dbSNP |
16 | g.173552C>A | CA393994581 | HBA2 | c.381C>A (p.Asp127Glu) c.285C>A (p.Asp95Glu) n.517C>A | dbSNP |
16 | g.173552C= | CA2200880951 | HBA2 | c.381C= (p.Asp127=) c.285C= (p.Asp95=) n.517C= | |
16 | g.173552C>G | CA393994582 | HBA2 | c.381C>G (p.Asp127Glu) c.285C>G (p.Asp95Glu) n.517C>G | dbSNP |
16 | g.173552C>T | CA492785444 | HBA2 | c.381C>T (p.Asp127=) c.285C>T (p.Asp95=) n.517C>T | |
16 | g.173553A= | CA2200880952 | HBA2 | c.382A= (p.Lys128=) c.286A= (p.Lys96=) n.518A= | |
16 | g.173553A>C | CA393994583 | HBA2 | c.382A>C (p.Lys128Gln) c.286A>C (p.Lys96Gln) n.518A>C | |
16 | g.173553A>G | CA276415458 | HBA2 | c.382A>G (p.Lys128Glu) c.286A>G (p.Lys96Glu) n.518A>G | dbSNP |
16 | g.173553A>T | CA393994585 | HBA2 | c.382A>T (p.Lys128Ter) c.286A>T (p.Lys96Ter) n.518A>T | |
16 | g.173554A= | CA2200880953 | HBA2 | c.383A= (p.Lys128=) c.287A= (p.Lys96=) n.519A= | |
16 | g.173554A>C | CA276415461 | HBA2 | c.383A>C (p.Lys128Thr) c.287A>C (p.Lys96Thr) n.519A>C | ClinVar dbSNP |
16 | g.173554A>G | CA393994588 | HBA2 | c.383A>G (p.Lys128Arg) c.287A>G (p.Lys96Arg) n.519A>G | |
16 | g.173554A>T | CA393994589 | HBA2 | c.383A>T (p.Lys128Met) c.287A>T (p.Lys96Met) n.519A>T | |
16 | g.173555G>A | CA492785453 | HBA2 | c.384G>A (p.Lys128=) c.288G>A (p.Lys96=) n.520G>A | |
16 | g.173555G>C | CA276415462 | HBA2 | c.384G>C (p.Lys128Asn) c.288G>C (p.Lys96Asn) n.520G>C | dbSNP gnomAD v4 |
16 | g.173555G= | CA2200880954 | HBA2 | c.384G= (p.Lys128=) c.288G= (p.Lys96=) n.520G= | |
16 | g.173555G>T | CA276415464 | HBA2 | c.384G>T (p.Lys128Asn) c.288G>T (p.Lys96Asn) n.520G>T | dbSNP |
16 | g.173556T>A | CA393994592 | HBA2 | c.385T>A (p.Phe129Ile) c.289T>A (p.Phe97Ile) n.521T>A | |
16 | g.173556T>C | CA393994594 | HBA2 | c.385T>C (p.Phe129Leu) c.289T>C (p.Phe97Leu) n.521T>C | gnomAD v4 |
16 | g.173556T>G | CA393994596 | HBA2 | c.385T>G (p.Phe129Val) c.289T>G (p.Phe97Val) n.521T>G | |
16 | g.173557T>A | CA393994601 | HBA2 | c.386T>A (p.Phe129Tyr) c.290T>A (p.Phe97Tyr) n.522T>A | |
16 | g.173557T>C | CA393994599 | HBA2 | c.386T>C (p.Phe129Ser) c.290T>C (p.Phe97Ser) n.522T>C | |
16 | g.173557T>G | CA393994597 | HBA2 | c.386T>G (p.Phe129Cys) c.290T>G (p.Phe97Cys) n.522T>G | |
16 | g.173558C>A | CA393994602 | HBA2 | c.387C>A (p.Phe129Leu) c.291C>A (p.Phe97Leu) n.523C>A | |
16 | g.173558C>G | CA393994603 | HBA2 | c.387C>G (p.Phe129Leu) c.291C>G (p.Phe97Leu) n.523C>G | |
16 | g.173558C>T | CA492785467 | HBA2 | c.387C>T (p.Phe129=) c.291C>T (p.Phe97=) n.523C>T | |
16 | g.173559del | CA2630737981 | HBA2 | c.388del (p.Leu130TrpfsTer4) c.292del (p.Leu98TrpfsTer4) n.524del | gnomAD v4 |
16 | g.173559C>A | CA393994605 | HBA2 | c.388C>A (p.Leu130Met) c.292C>A (p.Leu98Met) n.524C>A | |
16 | g.173559C>G | CA393994607 | HBA2 | c.388C>G (p.Leu130Val) c.292C>G (p.Leu98Val) n.524C>G | |
16 | g.173559C>T | CA492785474 | HBA2 | c.388C>T (p.Leu130=) c.292C>T (p.Leu98=) n.524C>T | |
16 | g.173560T>A | CA393994609 | HBA2 | c.389T>A (p.Leu130Gln) c.293T>A (p.Leu98Gln) n.525T>A | |
16 | g.173560T>C | CA276415466 | HBA2 | c.389T>C (p.Leu130Pro) c.293T>C (p.Leu98Pro) n.525T>C | ClinVar dbSNP |
16 | g.173560T>G | CA393994610 | HBA2 | c.389T>G (p.Leu130Arg) c.293T>G (p.Leu98Arg) n.525T>G | |
16 | g.173560T= | CA2200880955 | HBA2 | c.389T= (p.Leu130=) c.293T= (p.Leu98=) n.525T= | |
16 | g.173561G>A | CA492785480 | HBA2 | c.390G>A (p.Leu130=) c.294G>A (p.Leu98=) n.526G>A | gnomAD v4 |
16 | g.173561G>C | CA492785481 | HBA2 | c.390G>C (p.Leu130=) c.294G>C (p.Leu98=) n.526G>C | |
16 | g.173561G>T | CA492785484 | HBA2 | c.390G>T (p.Leu130=) c.294G>T (p.Leu98=) n.526G>T | |
16 | g.173562G>A | CA393994611 | HBA2 | c.391G>A (p.Ala131Thr) c.295G>A (p.Ala99Thr) n.527G>A | COSMIC |
16 | g.173562G>C | CA125576 | HBA2 | c.391G>C (p.Ala131Pro) c.295G>C (p.Ala99Pro) n.527G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173562G= | CA2200880956 | HBA2 | c.391G= (p.Ala131=) c.295G= (p.Ala99=) n.527G= | |
16 | g.173562G>T | CA393994614 | HBA2 | c.391G>T (p.Ala131Ser) c.295G>T (p.Ala99Ser) n.527G>T | |
16 | g.173563C>A | CA276415481 | HBA2 | c.392C>A (p.Ala131Asp) c.296C>A (p.Ala99Asp) n.528C>A | dbSNP |
16 | g.173563C= | CA2200880957 | HBA2 | c.392C= (p.Ala131=) c.296C= (p.Ala99=) n.528C= | |
16 | g.173563C>G | CA393994615 | HBA2 | c.392C>G (p.Ala131Gly) c.296C>G (p.Ala99Gly) n.528C>G | |
16 | g.173563C>T | CA393994617 | HBA2 | c.392C>T (p.Ala131Val) c.296C>T (p.Ala99Val) n.528C>T | |
16 | g.173564T>A | CA492785495 | HBA2 | c.393T>A (p.Ala131=) c.297T>A (p.Ala99=) n.529T>A | |
16 | g.173564T>C | CA492785504 | HBA2 | c.393T>C (p.Ala131=) c.297T>C (p.Ala99=) n.529T>C | |
16 | g.173564T>G | CA492785502 | HBA2 | c.393T>G (p.Ala131=) c.297T>G (p.Ala99=) n.529T>G | |
16 | g.173565T>A | CA393994619 | HBA2 | c.394T>A (p.Ser132Thr) c.298T>A (p.Ser100Thr) n.530T>A | gnomAD v4 |
16 | g.173565T>C | CA276415483 | HBA2 | c.394T>C (p.Ser132Pro) c.298T>C (p.Ser100Pro) n.530T>C | dbSNP |
16 | g.173565T>G | CA393994620 | HBA2 | c.394T>G (p.Ser132Ala) c.298T>G (p.Ser100Ala) n.530T>G | |
16 | g.173565T= | CA2200880958 | HBA2 | c.394T= (p.Ser132=) c.298T= (p.Ser100=) n.530T= | |
16 | g.173566C>A | CA393994624 | HBA2 | c.395C>A (p.Ser132Tyr) c.299C>A (p.Ser100Tyr) n.531C>A | |
16 | g.173566C= | CA2200880959 | HBA2 | c.395C= (p.Ser132=) c.299C= (p.Ser100=) n.531C= | |
16 | g.173566C>G | CA7770183 | HBA2 | c.395C>G (p.Ser132Cys) c.299C>G (p.Ser100Cys) n.531C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.173566C>T | CA393994622 | HBA2 | c.395C>T (p.Ser132Phe) c.299C>T (p.Ser100Phe) n.531C>T | gnomAD v4 |
16 | g.173567T>A | CA492785510 | HBA2 | c.396T>A (p.Ser132=) c.300T>A (p.Ser100=) n.532T>A | |
16 | g.173567T>C | CA492785511 | HBA2 | c.396T>C (p.Ser132=) c.300T>C (p.Ser100=) n.532T>C | |
16 | g.173567T>G | CA492785513 | HBA2 | c.396T>G (p.Ser132=) c.300T>G (p.Ser100=) n.532T>G | |
16 | g.173568G>A | CA393994626 | HBA2 | c.397G>A (p.Val133Met) c.301G>A (p.Val101Met) n.533G>A | gnomAD v4 |
16 | g.173568G>C | CA393994627 | HBA2 | c.397G>C (p.Val133Leu) c.301G>C (p.Val101Leu) n.533G>C | |
16 | g.173568G>T | CA393994629 | HBA2 | c.397G>T (p.Val133Leu) c.301G>T (p.Val101Leu) n.533G>T | |
16 | g.173569T>A | CA393994630 | HBA2 | c.398T>A (p.Val133Glu) c.302T>A (p.Val101Glu) n.534T>A | |
16 | g.173569T>C | CA393994631 | HBA2 | c.398T>C (p.Val133Ala) c.302T>C (p.Val101Ala) n.534T>C | |
16 | g.173569T>G | CA276415487 | HBA2 | c.398T>G (p.Val133Gly) c.302T>G (p.Val101Gly) n.534T>G | dbSNP |
16 | g.173569T= | CA2200880960 | HBA2 | c.398T= (p.Val133=) c.302T= (p.Val101=) n.534T= | |
16 | g.173570G>A | CA492785525 | HBA2 | c.399G>A (p.Val133=) c.303G>A (p.Val101=) n.535G>A | |
16 | g.173570G>C | CA492785522 | HBA2 | c.399G>C (p.Val133=) c.303G>C (p.Val101=) n.535G>C | |
16 | g.173570G>T | CA492785524 | HBA2 | c.399G>T (p.Val133=) c.303G>T (p.Val101=) n.535G>T | |
16 | g.173571_173577del | CA2588340007 | HBA2 | c.400_406del (p.Ser134CysfsTer2) c.304_310del (p.Ser102CysfsTer2) n.536_542del | |
16 | g.173571A= | CA2200880961 | HBA2 | c.400A= (p.Ser134=) c.304A= (p.Ser102=) n.536A= | |
16 | g.173571A>C | CA276415491 | HBA2 | c.400A>C (p.Ser134Arg) c.304A>C (p.Ser102Arg) n.536A>C | dbSNP |
16 | g.173571A>G | CA393994633 | HBA2 | c.400A>G (p.Ser134Gly) c.304A>G (p.Ser102Gly) n.536A>G | |
16 | g.173571A>T | CA393994634 | HBA2 | c.400A>T (p.Ser134Cys) c.304A>T (p.Ser102Cys) n.536A>T | |
16 | g.173572G>A | CA276415494 | HBA2 | c.401G>A (p.Ser134Asn) c.305G>A (p.Ser102Asn) n.537G>A | dbSNP gnomAD v4 |
16 | g.173572G>C | CA393994636 | HBA2 | c.401G>C (p.Ser134Thr) c.305G>C (p.Ser102Thr) n.537G>C | |
16 | g.173572G= | CA2200880962 | HBA2 | c.401G= (p.Ser134=) c.305G= (p.Ser102=) n.537G= | |
16 | g.173572G>T | CA393994638 | HBA2 | c.401G>T (p.Ser134Ile) c.305G>T (p.Ser102Ile) n.537G>T | |
16 | g.173573C>A | CA125650 | HBA2 | c.402C>A (p.Ser134Arg) c.306C>A (p.Ser102Arg) n.538C>A | ClinVar dbSNP |
16 | g.173573C= | CA2200880963 | HBA2 | c.402C= (p.Ser134=) c.306C= (p.Ser102=) n.538C= | |
16 | g.173573C>G | CA276415497 | HBA2 | c.402C>G (p.Ser134Arg) c.306C>G (p.Ser102Arg) n.538C>G | dbSNP |
16 | g.173573C>T | CA492785537 | HBA2 | c.402C>T (p.Ser134=) c.306C>T (p.Ser102=) n.538C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.173574A= | CA2200880964 | HBA2 | c.403A= (p.Thr135=) c.307A= (p.Thr103=) n.539A= | |
16 | g.173574A>C | CA393994642 | HBA2 | c.403A>C (p.Thr135Pro) c.307A>C (p.Thr103Pro) n.539A>C | |
16 | g.173574A>G | CA276415500 | HBA2 | c.403A>G (p.Thr135Ala) c.307A>G (p.Thr103Ala) n.539A>G | dbSNP |
16 | g.173574A>T | CA276415504 | HBA2 | c.403A>T (p.Thr135Ser) c.307A>T (p.Thr103Ser) n.539A>T | dbSNP |
16 | g.173575C>A | CA393994644 | HBA2 | c.404C>A (p.Thr135Asn) c.308C>A (p.Thr103Asn) n.540C>A | |
16 | g.173575C= | CA2200880965 | HBA2 | c.404C= (p.Thr135=) c.308C= (p.Thr103=) n.540C= | |
16 | g.173575C>G | CA276415508 | HBA2 | c.404C>G (p.Thr135Ser) c.308C>G (p.Thr103Ser) n.540C>G | dbSNP |
16 | g.173575C>T | CA393994646 | HBA2 | c.404C>T (p.Thr135Ile) c.308C>T (p.Thr103Ile) n.540C>T | ClinVar dbSNP |
16 | g.173576C>A | CA492785551 | HBA2 | c.405C>A (p.Thr135=) c.309C>A (p.Thr103=) n.541C>A | gnomAD v4 |
16 | g.173576C= | CA2200880966 | HBA2 | c.405C= (p.Thr135=) c.309C= (p.Thr103=) n.541C= | |
16 | g.173576C>G | CA492785548 | HBA2 | c.405C>G (p.Thr135=) c.309C>G (p.Thr103=) n.541C>G | gnomAD v4 |
16 | g.173576C>T | CA7770184 | HBA2 | c.405C>T (p.Thr135=) c.309C>T (p.Thr103=) n.541C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173577G>A | CA393994648 | HBA2 | c.406G>A (p.Val136Met) c.310G>A (p.Val104Met) n.542G>A | |
16 | g.173577G>C | CA276415511 | HBA2 | c.406G>C (p.Val136Leu) c.310G>C (p.Val104Leu) n.542G>C | dbSNP |
16 | g.173577G= | CA2200880967 | HBA2 | c.406G= (p.Val136=) c.310G= (p.Val104=) n.542G= | |
16 | g.173577G>T | CA393994651 | HBA2 | c.406G>T (p.Val136Leu) c.310G>T (p.Val104Leu) n.542G>T | |
16 | g.173578T>A | CA276415514 | HBA2 | c.407T>A (p.Val136Glu) c.311T>A (p.Val104Glu) n.543T>A | dbSNP |
16 | g.173578T>C | CA393994653 | HBA2 | c.407T>C (p.Val136Ala) c.311T>C (p.Val104Ala) n.543T>C | |
16 | g.173578T>G | CA393994654 | HBA2 | c.407T>G (p.Val136Gly) c.311T>G (p.Val104Gly) n.543T>G | |
16 | g.173578T= | CA2200880968 | HBA2 | c.407T= (p.Val136=) c.311T= (p.Val104=) n.543T= | |
16 | g.173579G>A | CA492785567 | HBA2 | c.408G>A (p.Val136=) c.312G>A (p.Val104=) n.544G>A | dbSNP gnomAD v2 |
16 | g.173579G>C | CA492785569 | HBA2 | c.408G>C (p.Val136=) c.312G>C (p.Val104=) n.544G>C | |
16 | g.173579G= | CA2200880969 | HBA2 | c.408G= (p.Val136=) c.312G= (p.Val104=) n.544G= | |
16 | g.173579G>T | CA492785571 | HBA2 | c.408G>T (p.Val136=) c.312G>T (p.Val104=) n.544G>T |