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.173330_173471del | CA2630737665 | HBA2 | c.300+1_301-1del c.204+1_205-1del n.436+1_437-1del | gnomAD v4 |
16 | g.173443_173452delinsGGGCCGCACT | CA2200880869 | HBA2 | c.301-29_301-20delinsGGGCCGCACT (n.301-29_301-20delinsGGGCCGCACT) c.205-29_205-20delinsGGGCCGCACT (n.205-29_205-20delinsGGGCCGCACT) n.437-29_437-20delinsGGGCCGCACT n.383_392delinsGGGCCGCACT | |
16 | g.173445_173453del | CA7770156 | HBA2 | c.301-27_301-19del (n.301-27_301-19del) c.205-27_205-19del (n.205-27_205-19del) n.437-27_437-19del n.385_393del | dbSNP ExAC |
16 | g.173447_173448delinsCG | CA2200880873 | HBA2 | c.301-25_301-24delinsCG (n.301-25_301-24delinsCG) c.205-25_205-24delinsCG (n.205-25_205-24delinsCG) n.437-25_437-24delinsCG n.387_388delinsCG | |
16 | g.173448del | CA913187464 | HBA2 | c.301-24del (n.301-24del) c.205-24del (n.205-24del) n.437-24del n.388del | |
16 | g.173448G>A | CA620304413 | HBA2 | c.301-24G>A (n.301-24G>A) c.205-24G>A (n.205-24G>A) n.437-24G>A n.388G>A | gnomAD v2 gnomAD v4 |
16 | g.173448G>C | CA7770159 | HBA2 | c.301-24G>C (n.301-24G>C) c.205-24G>C (n.205-24G>C) n.437-24G>C n.388G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173448G= | CA2200880874 | HBA2 | c.301-24G= (n.301-24G=) c.205-24G= (n.205-24G=) n.437-24G= n.388G= | |
16 | g.173448G>T | CA718603609 | HBA2 | c.301-24G>T (n.301-24G>T) c.205-24G>T (n.205-24G>T) n.437-24G>T n.388G>T | dbSNP |
16 | g.173448delinsCTCGGCC | CA915946212 | HBA2 | c.301-24delinsCTCGGCC (n.301-24delinsCTCGGCC) c.205-24delinsCTCGGCC (n.205-24delinsCTCGGCC) n.437-24delinsCTCGGCC n.388delinsCTCGGCC | |
16 | g.173448delinsCTCGGCCC | CA915946211 | HBA2 | c.301-24delinsCTCGGCCC (n.301-24delinsCTCGGCCC) c.205-24delinsCTCGGCCC (n.205-24delinsCTCGGCCC) n.437-24delinsCTCGGCCC n.388delinsCTCGGCCC | ClinVar dbSNP |
16 | g.173448_173450del | CA2630737836 | HBA2 | c.301-24_301-22del (n.301-24_301-22del) c.205-24_205-22del (n.205-24_205-22del) n.437-24_437-22del n.388_390del | gnomAD v4 |
16 | g.173448_173449insGCCC | CA7770160 | HBA2 | c.301-24_301-23insGCCC (n.301-24_301-23insGCCC) c.205-24_205-23insGCCC (n.205-24_205-23insGCCC) n.437-24_437-23insGCCC n.388_389insGCCC | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173448_173449insGCGC | CA2630737842 | HBA2 | c.301-24_301-23insGCGC (n.301-24_301-23insGCGC) c.205-24_205-23insGCGC (n.205-24_205-23insGCGC) n.437-24_437-23insGCGC n.388_389insGCGC | gnomAD v4 |
16 | g.173449C= | CA2200880875 | HBA2 | c.301-23C= (n.301-23C=) c.205-23C= (n.205-23C=) n.437-23C= n.389C= | |
16 | g.173449C>T | CA7770161 | HBA2 | c.301-23C>T (n.301-23C>T) c.205-23C>T (n.205-23C>T) n.437-23C>T n.389C>T | dbSNP ExAC gnomAD v4 |
16 | g.173449_173450insTCGGCCCC | CA1139532153 | HBA2 | c.301-23_301-22insTCGGCCCC (n.301-23_301-22insTCGGCCCC) c.205-23_205-22insTCGGCCCC (n.205-23_205-22insTCGGCCCC) n.437-23_437-22insTCGGCCCC n.389_390insTCGGCCCC | |
16 | g.173450A>C | CA973582129 | HBA2 | c.301-22A>C (n.301-22A>C) c.205-22A>C (n.205-22A>C) n.437-22A>C n.390A>C | gnomAD v3 gnomAD v4 |
16 | g.173451C= | CA2200880876 | HBA2 | c.301-21C= (n.301-21C=) c.205-21C= (n.205-21C=) n.437-21C= n.391C= | |
16 | g.173451C>G | CA2200880877 | HBA2 | c.301-21C>G (n.301-21C>G) c.205-21C>G (n.205-21C>G) n.437-21C>G n.391C>G | dbSNP |
16 | g.173451C>T | CA2630737844 | HBA2 | c.301-21C>T (n.301-21C>T) c.205-21C>T (n.205-21C>T) n.437-21C>T n.391C>T | gnomAD v4 |
16 | g.173452T>C | CA2630737845 | HBA2 | c.301-20T>C (n.301-20T>C) c.205-20T>C (n.205-20T>C) n.437-20T>C n.392T>C | gnomAD v4 |
16 | g.173452_173453insCG | CA2630737847 | HBA2 | c.301-20_301-19insCG (n.301-20_301-19insCG) c.205-20_205-19insCG (n.205-20_205-19insCG) n.437-20_437-19insCG n.392_393insCG | gnomAD v4 |
16 | g.173454A= | CA2200880878 | HBA2 | c.301-18A= (n.301-18A=) c.205-18A= (n.205-18A=) n.437-18A= n.394A= | |
16 | g.173454A>C | CA7770162 | HBA2 | c.301-18A>C (n.301-18A>C) c.205-18A>C (n.205-18A>C) n.437-18A>C n.394A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173454A>T | CA7770163 | HBA2 | c.301-18A>T (n.301-18A>T) c.205-18A>T (n.205-18A>T) n.437-18A>T n.394A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.173455C= | CA2200880879 | HBA2 | c.301-17C= (n.301-17C=) c.205-17C= (n.205-17C=) n.437-17C= n.395C= | |
16 | g.173455C>G | CA7770164 | HBA2 | c.301-17C>G (n.301-17C>G) c.205-17C>G (n.205-17C>G) n.437-17C>G n.395C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173455C>T | CA7770165 | HBA2 | c.301-17C>T (n.301-17C>T) c.205-17C>T (n.205-17C>T) n.437-17C>T n.395C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.173456C= | CA2200880880 | HBA2 | c.301-16C= (n.301-16C=) c.205-16C= (n.205-16C=) n.437-16C= n.396C= | |
16 | g.173456C>G | CA7770166 | HBA2 | c.301-16C>G (n.301-16C>G) c.205-16C>G (n.205-16C>G) n.437-16C>G n.396C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173457C= | CA2200880881 | HBA2 | c.301-15C= (n.301-15C=) c.205-15C= (n.205-15C=) n.437-15C= n.397C= | |
16 | g.173457C>G | CA2630737852 | HBA2 | c.301-15C>G (n.301-15C>G) c.205-15C>G (n.205-15C>G) n.437-15C>G n.397C>G | gnomAD v4 |
16 | g.173457C>T | CA718603614 | HBA2 | c.301-15C>T (n.301-15C>T) c.205-15C>T (n.205-15C>T) n.437-15C>T n.397C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.173457_173458insGG | CA7770167 | HBA2 | c.301-15_301-14insGG (n.301-15_301-14insGG) c.205-15_205-14insGG (n.205-15_205-14insGG) n.437-15_437-14insGG n.397_398insGG | dbSNP ExAC |
16 | g.173458T= | CA2200880882 | HBA2 | c.301-14T= (n.301-14T=) c.205-14T= (n.205-14T=) n.437-14T= n.398T= | |
16 | g.173459C>A | CA2805501776 | HBA2 | c.301-13C>A (n.301-13C>A) c.205-13C>A (n.205-13C>A) n.437-13C>A n.399C>A | |
16 | g.173459_173460insAAC | CA7770168 | HBA2 | c.301-13_301-12insAAC (n.301-13_301-12insAAC) c.205-13_205-12insAAC (n.205-13_205-12insAAC) n.437-13_437-12insAAC n.399_400insAAC | dbSNP ExAC |
16 | g.173459_173460insGGCCCCC | CA2573054150 | HBA2 | c.301-13_301-12insGGCCCCC (n.301-13_301-12insGGCCCCC) c.205-13_205-12insGGCCCCC (n.205-13_205-12insGGCCCCC) n.437-13_437-12insGGCCCCC n.399_400insGGCCCCC | ClinVar dbSNP |
16 | g.173460T>G | CA2805501777 | HBA2 | c.301-12T>G (n.301-12T>G) c.205-12T>G (n.205-12T>G) n.437-12T>G n.400T>G | |
16 | g.173461_173466delinsTCTCTG | CA2200880883 | HBA2 | c.301-11_301-6delinsTCTCTG (n.301-11_301-6delinsTCTCTG) c.205-11_205-6delinsTCTCTG (n.205-11_205-6delinsTCTCTG) n.437-11_437-6delinsTCTCTG | |
16 | g.173462C>T | CA2630737853 | HBA2 | c.301-10C>T (n.301-10C>T) c.205-10C>T (n.205-10C>T) n.437-10C>T n.402C>T | gnomAD v4 |
16 | g.173463_173467del | CA7770169 | HBA2 | c.301-9_301-5del (n.301-9_301-5del) c.205-9_205-5del (n.205-9_205-5del) n.437-9_437-5del | dbSNP ExAC |
16 | g.173465T>C | CA2200880885 | HBA2 | c.301-7T>C (n.301-7T>C) c.205-7T>C (n.205-7T>C) n.437-7T>C | dbSNP gnomAD v4 |
16 | g.173465T>G | CA973582136 | HBA2 | c.301-7T>G (n.301-7T>G) c.205-7T>G (n.205-7T>G) n.437-7T>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.173465T= | CA2200880884 | HBA2 | c.301-7T= (n.301-7T=) c.205-7T= (n.205-7T=) n.437-7T= | |
16 | g.173467C= | CA2200880886 | HBA2 | c.301-5C= (n.301-5C=) c.205-5C= (n.205-5C=) n.437-5C= | |
16 | g.173468A= | CA2200880887 | HBA2 | c.301-4A= (n.301-4A=) c.205-4A= (n.205-4A=) n.437-4A= | |
16 | g.173468A>C | CA2805501778 | HBA2 | c.301-4A>C (n.301-4A>C) c.205-4A>C (n.205-4A>C) n.437-4A>C | |
16 | g.173468A>T | CA620304414 | HBA2 | c.301-4A>T (n.301-4A>T) c.205-4A>T (n.205-4A>T) n.437-4A>T | dbSNP gnomAD v2 |
16 | g.173468dup | CA7770170 | HBA2 | c.301-4dup (n.301-4dup) c.205-4dup (n.205-4dup) n.437-4dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.173468_173469delinsAC | CA2200880888 | HBA2 | c.301-4_301-3delinsAC (n.301-4_301-3delinsAC) c.205-4_205-3delinsAC (n.205-4_205-3delinsAC) n.437-4_437-3delinsAC | |
16 | g.173469del | CA7770171 | HBA2 | c.301-3del (n.301-3del) c.205-3del (n.205-3del) n.437-3del | dbSNP ExAC |
16 | g.173469C>A | CA718603619 | HBA2 | c.301-3C>A (n.301-3C>A) c.205-3C>A (n.205-3C>A) n.437-3C>A | dbSNP |
16 | g.173469C= | CA2200880889 | HBA2 | c.301-3C= (n.301-3C=) c.205-3C= (n.205-3C=) n.437-3C= | |
16 | g.173470A>C | CA393994356 | HBA2 | c.301-2A>C (n.301-2A>C) c.205-2A>C (n.205-2A>C) n.437-2A>C | |
16 | g.173470A>G | CA393994357 | HBA2 | c.301-2A>G (n.301-2A>G) c.205-2A>G (n.205-2A>G) n.437-2A>G | |
16 | g.173470A>T | CA393994359 | HBA2 | c.301-2A>T (n.301-2A>T) c.205-2A>T (n.205-2A>T) n.437-2A>T | |
16 | g.173471G>A | CA125624 | HBA2 | c.301-1G>A (n.301-1G>A) c.205-1G>A (n.205-1G>A) n.437-1G>A | ClinVar dbSNP gnomAD v4 |
16 | g.173471G>C | CA393994361 | HBA2 | c.301-1G>C (n.301-1G>C) c.205-1G>C (n.205-1G>C) n.437-1G>C | |
16 | g.173471G= | CA2200880890 | HBA2 | c.301-1G= (n.301-1G=) c.205-1G= (n.205-1G=) n.437-1G= | |
16 | g.173471G>T | CA393994362 | HBA2 | c.301-1G>T (n.301-1G>T) c.205-1G>T (n.205-1G>T) n.437-1G>T | |
16 | g.173472C>A | CA393994364 | HBA2 | c.301C>A (p.Leu101Ile) c.205C>A (p.Leu69Ile) n.437C>A | |
16 | g.173472C>G | CA393994365 | HBA2 | c.301C>G (p.Leu101Val) c.205C>G (p.Leu69Val) n.437C>G | |
16 | g.173472C>T | CA393994366 | HBA2 | c.301C>T (p.Leu101Phe) c.205C>T (p.Leu69Phe) n.437C>T | gnomAD v4 |
16 | g.173473T>A | CA393994368 | HBA2 | c.302T>A (p.Leu101His) c.206T>A (p.Leu69His) n.438T>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.173473T>C | CA393994370 | HBA2 | c.302T>C (p.Leu101Pro) c.206T>C (p.Leu69Pro) n.438T>C | |
16 | g.173473T>G | CA393994369 | HBA2 | c.302T>G (p.Leu101Arg) c.206T>G (p.Leu69Arg) n.438T>G | |
16 | g.173473T= | CA2200880891 | HBA2 | c.302T= (p.Leu101=) c.206T= (p.Leu69=) n.438T= | |
16 | g.173474C>A | CA492785042 | HBA2 | c.303C>A (p.Leu101=) c.207C>A (p.Leu69=) n.439C>A | |
16 | g.173474C= | CA2200880892 | HBA2 | c.303C= (p.Leu101=) c.207C= (p.Leu69=) n.439C= | |
16 | g.173474C>G | CA492785039 | HBA2 | c.303C>G (p.Leu101=) c.207C>G (p.Leu69=) n.439C>G | |
16 | g.173474C>T | CA492785036 | HBA2 | c.303C>T (p.Leu101=) c.207C>T (p.Leu69=) n.439C>T | dbSNP gnomAD v4 |
16 | g.173475C>A | CA393994371 | HBA2 | c.304C>A (p.Leu102Ile) c.208C>A (p.Leu70Ile) n.440C>A | |
16 | g.173475C>G | CA393994372 | HBA2 | c.304C>G (p.Leu102Val) c.208C>G (p.Leu70Val) n.440C>G | |
16 | g.173475C>T | CA492785044 | HBA2 | c.304C>T (p.Leu102=) c.208C>T (p.Leu70=) n.440C>T | |
16 | g.173476T>A | CA393994374 | HBA2 | c.305T>A (p.Leu102Gln) c.209T>A (p.Leu70Gln) n.441T>A | |
16 | g.173476T>C | CA276415264 | HBA2 | c.305T>C (p.Leu102Pro) c.209T>C (p.Leu70Pro) n.441T>C | ClinVar dbSNP gnomAD v4 |
16 | g.173476T>G | CA393994375 | HBA2 | c.305T>G (p.Leu102Arg) c.209T>G (p.Leu70Arg) n.441T>G | |
16 | g.173476T= | CA2200880893 | HBA2 | c.305T= (p.Leu102=) c.209T= (p.Leu70=) n.441T= | |
16 | g.173477A>C | CA492785054 | HBA2 | c.306A>C (p.Leu102=) c.210A>C (p.Leu70=) n.442A>C | |
16 | g.173477A>G | CA492785056 | HBA2 | c.306A>G (p.Leu102=) c.210A>G (p.Leu70=) n.442A>G | |
16 | g.173477A>T | CA492785058 | HBA2 | c.306A>T (p.Leu102=) c.210A>T (p.Leu70=) n.442A>T | |
16 | g.173478A= | CA2200880894 | HBA2 | c.307A= (p.Ser103=) c.211A= (p.Ser71=) n.443A= | |
16 | g.173478A>C | CA7770172 | HBA2 | c.307A>C (p.Ser103Arg) c.211A>C (p.Ser71Arg) n.443A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.173478A>G | CA393994377 | HBA2 | c.307A>G (p.Ser103Gly) c.211A>G (p.Ser71Gly) n.443A>G | |
16 | g.173478A>T | CA393994378 | HBA2 | c.307A>T (p.Ser103Cys) c.211A>T (p.Ser71Cys) n.443A>T | |
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= |