| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.171847_181556del | CA916083461 | ClinVar | ||
| 16 | g.172001_181401del | CA916083462 | ClinVar | ||
| 16 | g.177149_177753delinsAAGTAGA | CA915940715 | |||
| 16 | g.177313_177326delinsGCCGCCCACCTCCC | CA2200883252 | HBA1 | c.331_344delinsGCCGCCCACCTCCC (p.Ala111=) c.235_248delinsGCCGCCCACCTCCC (p.Ala79=) n.467_480delinsGCCGCCCACCTCCC | |
| 16 | g.177315_177327del | CA276417128 | HBA1 | c.333_345del (p.Ala112ProfsTer18) c.237_249del (p.Ala80ProfsTer18) n.469_481del | dbSNP |
| 16 | g.177319_177333dup | CA1139664216 | HBA1 | c.337_351dup (p.Glu117_Phe118insHisLeuProAlaGlu) c.241_255dup (p.Glu85_Phe86insHisLeuProAlaGlu) n.473_487dup | ClinVar dbSNP |
| 16 | g.177323_177326dup | CA2200883260 | HBA1 | c.341_344dup (p.Ala116ProfsTer?) c.245_248dup (p.Ala84ProfsTer?) n.477_480dup | dbSNP |
| 16 | g.177323_177324delinsTC | CA2200883262 | HBA1 | c.341_342delinsTC (p.Leu114=) c.245_246delinsTC (p.Leu82=) n.477_478delinsTC | |
| 16 | g.177324C>A | CA492994403 | HBA1 | c.342C>A (p.Leu114=) c.246C>A (p.Leu82=) n.478C>A | |
| 16 | g.177324C>G | CA492994404 | HBA1 | c.342C>G (p.Leu114=) c.246C>G (p.Leu82=) n.478C>G | gnomAD v4 |
| 16 | g.177324C>T | CA492994405 | HBA1 | c.342C>T (p.Leu114=) c.246C>T (p.Leu82=) n.478C>T | |
| 16 | g.177327del | CA620304283 | HBA1 | c.345del (p.Ala116ProfsTer18) c.249del (p.Ala84ProfsTer18) n.481del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177325C>A | CA393995875 | HBA1 | c.343C>A (p.Pro115Thr) c.247C>A (p.Pro83Thr) n.479C>A | dbSNP gnomAD v4 |
| 16 | g.177325C= | CA2200883264 | HBA1 | c.343C= (p.Pro115=) c.247C= (p.Pro83=) n.479C= | |
| 16 | g.177325C>G | CA276417150 | HBA1 | c.343C>G (p.Pro115Ala) c.247C>G (p.Pro83Ala) n.479C>G | dbSNP gnomAD v4 |
| 16 | g.177325C>T | CA125963 | HBA1 | c.343C>T (p.Pro115Ser) c.247C>T (p.Pro83Ser) n.479C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.177325_177326delinsCC | CA2200883263 | HBA1 | c.343_344delinsCC (p.Pro115=) c.247_248delinsCC (p.Pro83=) n.479_480delinsCC | |
| 16 | g.177325_177326delinsTT | CA276417146 | HBA1 | c.343_344delinsTT (p.Pro115Phe) c.247_248delinsTT (p.Pro83Phe) n.479_480delinsTT | dbSNP |
| 16 | g.177326C>A | CA393995879 | HBA1 | c.344C>A (p.Pro115His) c.248C>A (p.Pro83His) n.480C>A | gnomAD v4 |
| 16 | g.177326C= | CA2200883265 | HBA1 | c.344C= (p.Pro115=) c.248C= (p.Pro83=) n.480C= | |
| 16 | g.177326C>G | CA125699 | HBA1 | c.344C>G (p.Pro115Arg) c.248C>G (p.Pro83Arg) n.480C>G | ClinVar dbSNP |
| 16 | g.177326C>T | CA125843 | HBA1 | c.344C>T (p.Pro115Leu) c.248C>T (p.Pro83Leu) n.480C>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.177327C>A | CA492994406 | HBA1 | c.345C>A (p.Pro115=) c.249C>A (p.Pro83=) n.481C>A | gnomAD v4 |
| 16 | g.177327C= | CA2200883266 | HBA1 | c.345C= (p.Pro115=) c.249C= (p.Pro83=) n.481C= | |
| 16 | g.177327C>G | CA492994407 | HBA1 | c.345C>G (p.Pro115=) c.249C>G (p.Pro83=) n.481C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177327C>T | CA7770280 | HBA1 | c.345C>T (p.Pro115=) c.249C>T (p.Pro83=) n.481C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.177328G>A | CA393995882 | HBA1 | c.346G>A (p.Ala116Thr) c.250G>A (p.Ala84Thr) n.482G>A | |
| 16 | g.177328G>C | CA393995883 | HBA1 | c.346G>C (p.Ala116Pro) c.250G>C (p.Ala84Pro) n.482G>C | |
| 16 | g.177328G= | CA2200883267 | HBA1 | c.346G= (p.Ala116=) c.250G= (p.Ala84=) n.482G= | |
| 16 | g.177328G>T | CA393995884 | HBA1 | c.346G>T (p.Ala116Ser) c.250G>T (p.Ala84Ser) n.482G>T | |
| 16 | g.177329C>A | CA125791 | HBA1 | c.347C>A (p.Ala116Asp) c.251C>A (p.Ala84Asp) n.483C>A | ClinVar dbSNP |
| 16 | g.177329C= | CA2200883268 | HBA1 | c.347C= (p.Ala116=) c.251C= (p.Ala84=) n.483C= | |
| 16 | g.177329C>G | CA393995886 | HBA1 | c.347C>G (p.Ala116Gly) c.251C>G (p.Ala84Gly) n.483C>G | |
| 16 | g.177329C>T | CA276417160 | HBA1 | c.347C>T (p.Ala116Val) c.251C>T (p.Ala84Val) n.483C>T | dbSNP |
| 16 | g.177331_177339dup | CA973584886 | HBA1 | c.349_357dup (p.Thr119_Pro120insGluPheThr) c.253_261dup (p.Thr87_Pro88insGluPheThr) n.485_493dup | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177330C>A | CA492994408 | HBA1 | c.348C>A (p.Ala116=) c.252C>A (p.Ala84=) n.484C>A | gnomAD v4 |
| 16 | g.177330C>G | CA492994409 | HBA1 | c.348C>G (p.Ala116=) c.252C>G (p.Ala84=) n.484C>G | gnomAD v4 |
| 16 | g.177330C>T | CA492994410 | HBA1 | c.348C>T (p.Ala116=) c.252C>T (p.Ala84=) n.484C>T | gnomAD v4 |
| 16 | g.177331G>A | CA125847 | HBA1 | c.349G>A (p.Glu117Lys) c.253G>A (p.Glu85Lys) n.485G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177331G>C | CA125853 | HBA1 | c.349G>C (p.Glu117Gln) c.253G>C (p.Glu85Gln) n.485G>C | ClinVar dbSNP |
| 16 | g.177331G= | CA2200883269 | HBA1 | c.349G= (p.Glu117=) c.253G= (p.Glu85=) n.485G= | |
| 16 | g.177331G>T | CA393995889 | HBA1 | c.349G>T (p.Glu117Ter) c.253G>T (p.Glu85Ter) n.485G>T | |
| 16 | g.177332A= | CA2200883270 | HBA1 | c.350A= (p.Glu117=) c.254A= (p.Glu85=) n.486A= | |
| 16 | g.177332A>C | CA125921 | HBA1 | c.350A>C (p.Glu117Ala) c.254A>C (p.Glu85Ala) n.486A>C | ClinVar dbSNP ExAC gnomAD v2 |
| 16 | g.177332A>G | CA393995892 | HBA1 | c.350A>G (p.Glu117Gly) c.254A>G (p.Glu85Gly) n.486A>G | |
| 16 | g.177332A>T | CA393995893 | HBA1 | c.350A>T (p.Glu117Val) c.254A>T (p.Glu85Val) n.486A>T | |
| 16 | g.177333G>A | CA492994413 | HBA1 | c.351G>A (p.Glu117=) c.255G>A (p.Glu85=) n.487G>A | |
| 16 | g.177333G>C | CA393995897 | HBA1 | c.351G>C (p.Glu117Asp) c.255G>C (p.Glu85Asp) n.487G>C | gnomAD v4 |
| 16 | g.177333G>T | CA393995895 | HBA1 | c.351G>T (p.Glu117Asp) c.255G>T (p.Glu85Asp) n.487G>T | |
| 16 | g.177334T>A | CA393995899 | HBA1 | c.352T>A (p.Phe118Ile) c.256T>A (p.Phe86Ile) n.488T>A | |
| 16 | g.177334T>C | CA393995900 | HBA1 | c.352T>C (p.Phe118Leu) c.256T>C (p.Phe86Leu) n.488T>C | dbSNP gnomAD v4 |
| 16 | g.177334T>G | CA393995902 | HBA1 | c.352T>G (p.Phe118Val) c.256T>G (p.Phe86Val) n.488T>G | |
| 16 | g.177334T= | CA2200883271 | HBA1 | c.352T= (p.Phe118=) c.256T= (p.Phe86=) n.488T= | |
| 16 | g.177335T>A | CA393995904 | HBA1 | c.353T>A (p.Phe118Tyr) c.257T>A (p.Phe86Tyr) n.489T>A | gnomAD v4 |
| 16 | g.177335T>C | CA393995905 | HBA1 | c.353T>C (p.Phe118Ser) c.257T>C (p.Phe86Ser) n.489T>C | |
| 16 | g.177335T>G | CA393995907 | HBA1 | c.353T>G (p.Phe118Cys) c.257T>G (p.Phe86Cys) n.489T>G | |
| 16 | g.177335_177337dup | CA7770281 | HBA1 | c.353_355dup (p.Phe118_Thr119insIle) c.257_259dup (p.Phe86_Thr87insIle) n.489_491dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177336C>A | CA393995911 | HBA1 | c.354C>A (p.Phe118Leu) c.258C>A (p.Phe86Leu) n.490C>A | |
| 16 | g.177336C>G | CA393995909 | HBA1 | c.354C>G (p.Phe118Leu) c.258C>G (p.Phe86Leu) n.490C>G | |
| 16 | g.177336C>T | CA492994417 | HBA1 | c.354C>T (p.Phe118=) c.258C>T (p.Phe86=) n.490C>T | |
| 16 | g.177337A= | CA2200883272 | HBA1 | c.355A= (p.Thr119=) c.259A= (p.Thr87=) n.491A= | |
| 16 | g.177337A>C | CA393995912 | HBA1 | c.355A>C (p.Thr119Pro) c.259A>C (p.Thr87Pro) n.491A>C | |
| 16 | g.177337A>G | CA393995913 | HBA1 | c.355A>G (p.Thr119Ala) c.259A>G (p.Thr87Ala) n.491A>G | |
| 16 | g.177337A>T | CA276417174 | HBA1 | c.355A>T (p.Thr119Ser) c.259A>T (p.Thr87Ser) n.491A>T | dbSNP |
| 16 | g.177338C>A | CA7770282 | HBA1 | c.356C>A (p.Thr119Asn) c.260C>A (p.Thr87Asn) n.492C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.177338C= | CA2200883273 | HBA1 | c.356C= (p.Thr119=) c.260C= (p.Thr87=) n.492C= | |
| 16 | g.177338C>G | CA393995914 | HBA1 | c.356C>G (p.Thr119Ser) c.260C>G (p.Thr87Ser) n.492C>G | |
| 16 | g.177338C>T | CA393995916 | HBA1 | c.356C>T (p.Thr119Ile) c.260C>T (p.Thr87Ile) n.492C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177341del | CA2630735991 | HBA1 | c.359del (p.Pro120LeufsTer14) c.263del (p.Pro88LeufsTer14) n.495del | gnomAD v4 |
| 16 | g.177339C>A | CA492994420 | HBA1 | c.357C>A (p.Thr119=) c.261C>A (p.Thr87=) n.493C>A | |
| 16 | g.177339C>G | CA492994421 | HBA1 | c.357C>G (p.Thr119=) c.261C>G (p.Thr87=) n.493C>G | |
| 16 | g.177339C>T | CA492994423 | HBA1 | c.357C>T (p.Thr119=) c.261C>T (p.Thr87=) n.493C>T | gnomAD v4 |
| 16 | g.177340_177344del | CA2573054151 | HBA1 | c.358_362del (p.Pro120GlyfsTer?) c.262_266del (p.Pro88GlyfsTer?) n.494_498del | ClinVar dbSNP |
| 16 | g.177339_177340insTCA | CA2695221236 | HBA1 | c.357_358insTCA (p.Thr119_Pro120insSer) c.261_262insTCA (p.Thr87_Pro88insSer) n.493_494insTCA | |
| 16 | g.177340C>A | CA393995918 | HBA1 | c.358C>A (p.Pro120Thr) c.262C>A (p.Pro88Thr) n.494C>A | |
| 16 | g.177340C= | CA2200883274 | HBA1 | c.358C= (p.Pro120=) c.262C= (p.Pro88=) n.494C= | |
| 16 | g.177340C>G | CA393995920 | HBA1 | c.358C>G (p.Pro120Ala) c.262C>G (p.Pro88Ala) n.494C>G | |
| 16 | g.177340C>T | CA7770283 | HBA1 | c.358C>T (p.Pro120Ser) c.262C>T (p.Pro88Ser) n.494C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177341C>A | CA393995922 | HBA1 | c.359C>A (p.Pro120His) c.263C>A (p.Pro88His) n.495C>A | |
| 16 | g.177341C= | CA2200883275 | HBA1 | c.359C= (p.Pro120=) c.263C= (p.Pro88=) n.495C= | |
| 16 | g.177341C>G | CA393995923 | HBA1 | c.359C>G (p.Pro120Arg) c.263C>G (p.Pro88Arg) n.495C>G | gnomAD v4 |
| 16 | g.177341C>T | CA7770284 | HBA1 | c.359C>T (p.Pro120Leu) c.263C>T (p.Pro88Leu) n.495C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177342T>A | CA492994424 | HBA1 | c.360T>A (p.Pro120=) c.264T>A (p.Pro88=) n.496T>A | |
| 16 | g.177342T>C | CA492994425 | HBA1 | c.360T>C (p.Pro120=) c.264T>C (p.Pro88=) n.496T>C | COSMIC |
| 16 | g.177342T>G | CA492994426 | HBA1 | c.360T>G (p.Pro120=) c.264T>G (p.Pro88=) n.496T>G | |
| 16 | g.177343G>A | CA393995926 | HBA1 | c.361G>A (p.Ala121Thr) c.265G>A (p.Ala89Thr) n.497G>A | |
| 16 | g.177343G>C | CA393995927 | HBA1 | c.361G>C (p.Ala121Pro) c.265G>C (p.Ala89Pro) n.497G>C | |
| 16 | g.177343G>T | CA393995929 | HBA1 | c.361G>T (p.Ala121Ser) c.265G>T (p.Ala89Ser) n.497G>T | |
| 16 | g.177344C>A | CA125767 | HBA1 | c.362C>A (p.Ala121Glu) c.266C>A (p.Ala89Glu) n.498C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177344C= | CA2200883276 | HBA1 | c.362C= (p.Ala121=) c.266C= (p.Ala89=) n.498C= | |
| 16 | g.177344C>G | CA393995932 | HBA1 | c.362C>G (p.Ala121Gly) c.266C>G (p.Ala89Gly) n.498C>G | |
| 16 | g.177344C>T | CA393995933 | HBA1 | c.362C>T (p.Ala121Val) c.266C>T (p.Ala89Val) n.498C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177345G>A | CA492994428 | HBA1 | c.363G>A (p.Ala121=) c.267G>A (p.Ala89=) n.499G>A | gnomAD v4 |
| 16 | g.177345G>C | CA492994429 | HBA1 | c.363G>C (p.Ala121=) c.267G>C (p.Ala89=) n.499G>C | |
| 16 | g.177345G= | CA2200883277 | HBA1 | c.363G= (p.Ala121=) c.267G= (p.Ala89=) n.499G= | |
| 16 | g.177345G>T | CA492994430 | HBA1 | c.363G>T (p.Ala121=) c.267G>T (p.Ala89=) n.499G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177346G>A | CA125857 | HBA1 | c.364G>A (p.Val122Met) c.268G>A (p.Val90Met) n.500G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177346G>C | CA393995936 | HBA1 | c.364G>C (p.Val122Leu) c.268G>C (p.Val90Leu) n.500G>C | |
| 16 | g.177346G= | CA2200883278 | HBA1 | c.364G= (p.Val122=) c.268G= (p.Val90=) n.500G= | |
| 16 | g.177346G>T | CA393995938 | HBA1 | c.364G>T (p.Val122Leu) c.268G>T (p.Val90Leu) n.500G>T | |
| 16 | g.177347T>A | CA393995939 | HBA1 | c.365T>A (p.Val122Glu) c.269T>A (p.Val90Glu) n.501T>A | ClinVar dbSNP |
| 16 | g.177347T>C | CA7770285 | HBA1 | c.365T>C (p.Val122Ala) c.269T>C (p.Val90Ala) n.501T>C | dbSNP ExAC gnomAD v4 |
| 16 | g.177347T>G | CA393995941 | HBA1 | c.365T>G (p.Val122Gly) c.269T>G (p.Val90Gly) n.501T>G | |
| 16 | g.177347T= | CA2200883279 | HBA1 | c.365T= (p.Val122=) c.269T= (p.Val90=) n.501T= | |
| 16 | g.177348G>A | CA492994432 | HBA1 | c.366G>A (p.Val122=) c.270G>A (p.Val90=) n.502G>A | |
| 16 | g.177348G>C | CA492994435 | HBA1 | c.366G>C (p.Val122=) c.270G>C (p.Val90=) n.502G>C | |
| 16 | g.177348G>T | CA492994434 | HBA1 | c.366G>T (p.Val122=) c.270G>T (p.Val90=) n.502G>T | |
| 16 | g.177349C>A | CA393995943 | HBA1 | c.367C>A (p.His123Asn) c.271C>A (p.His91Asn) n.503C>A | |
| 16 | g.177349C= | CA2200883280 | HBA1 | c.367C= (p.His123=) c.271C= (p.His91=) n.503C= | |
| 16 | g.177349C>G | CA393995944 | HBA1 | c.367C>G (p.His123Asp) c.271C>G (p.His91Asp) n.503C>G | |
| 16 | g.177349C>T | CA276417189 | HBA1 | c.367C>T (p.His123Tyr) c.271C>T (p.His91Tyr) n.503C>T | dbSNP |
| 16 | g.177350A>C | CA393995946 | HBA1 | c.368A>C (p.His123Pro) c.272A>C (p.His91Pro) n.504A>C | |
| 16 | g.177350A>G | CA393995948 | HBA1 | c.368A>G (p.His123Arg) c.272A>G (p.His91Arg) n.504A>G | |
| 16 | g.177350A>T | CA393995950 | HBA1 | c.368A>T (p.His123Leu) c.272A>T (p.His91Leu) n.504A>T | |
| 16 | g.177351C>A | CA393995951 | HBA1 | c.369C>A (p.His123Gln) c.273C>A (p.His91Gln) n.505C>A | |
| 16 | g.177351C>G | CA393995952 | HBA1 | c.369C>G (p.His123Gln) c.273C>G (p.His91Gln) n.505C>G | |
| 16 | g.177351C>T | CA492994437 | HBA1 | c.369C>T (p.His123=) c.273C>T (p.His91=) n.505C>T | |
| 16 | g.177352G>A | CA7770286 | HBA1 | c.370G>A (p.Ala124Thr) c.274G>A (p.Ala92Thr) n.506G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177352G>C | CA276417193 | HBA1 | c.370G>C (p.Ala124Pro) c.274G>C (p.Ala92Pro) n.506G>C | dbSNP |
| 16 | g.177352G= | CA2200883281 | HBA1 | c.370G= (p.Ala124=) c.274G= (p.Ala92=) n.506G= | |
| 16 | g.177352G>T | CA125977 | HBA1 | c.370G>T (p.Ala124Ser) c.274G>T (p.Ala92Ser) n.506G>T | ClinVar dbSNP |
| 16 | g.177353C>A | CA393995956 | HBA1 | c.371C>A (p.Ala124Asp) c.275C>A (p.Ala92Asp) n.507C>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177353C= | CA2200883282 | HBA1 | c.371C= (p.Ala124=) c.275C= (p.Ala92=) n.507C= | |
| 16 | g.177353C>G | CA393995957 | HBA1 | c.371C>G (p.Ala124Gly) c.275C>G (p.Ala92Gly) n.507C>G | |
| 16 | g.177353C>T | CA393995959 | HBA1 | c.371C>T (p.Ala124Val) c.275C>T (p.Ala92Val) n.507C>T | |
| 16 | g.177354C>A | CA492994441 | HBA1 | c.372C>A (p.Ala124=) c.276C>A (p.Ala92=) n.508C>A | |
| 16 | g.177354C>G | CA492994442 | HBA1 | c.372C>G (p.Ala124=) c.276C>G (p.Ala92=) n.508C>G | gnomAD v4 |
| 16 | g.177354C>T | CA492994443 | HBA1 | c.372C>T (p.Ala124=) c.276C>T (p.Ala92=) n.508C>T | |
| 16 | g.177354_177367delinsCTCCCTGGACAAGT | CA2200883283 | HBA1 | c.372_385delinsCTCCCTGGACAAGT (p.Ala124=) c.276_289delinsCTCCCTGGACAAGT (p.Ala92=) n.508_521delinsCTCCCTGGACAAGT | |
| 16 | g.177355T>A | CA393995963 | HBA1 | c.373T>A (p.Ser125Thr) c.277T>A (p.Ser93Thr) n.509T>A | |
| 16 | g.177355T>C | CA393995962 | HBA1 | c.373T>C (p.Ser125Pro) c.277T>C (p.Ser93Pro) n.509T>C | |
| 16 | g.177355T>G | CA393995960 | HBA1 | c.373T>G (p.Ser125Ala) c.277T>G (p.Ser93Ala) n.509T>G | |
| 16 | g.177358_177370del | CA2200883284 | HBA1 | c.376_388del (p.Leu126TrpfsTer4) c.280_292del (p.Leu94TrpfsTer4) n.512_524del | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177356C>A | CA393995964 | HBA1 | c.374C>A (p.Ser125Tyr) c.278C>A (p.Ser93Tyr) n.510C>A | |
| 16 | g.177356C>G | CA393995966 | HBA1 | c.374C>G (p.Ser125Cys) c.278C>G (p.Ser93Cys) n.510C>G | |
| 16 | g.177356C>T | CA393995968 | HBA1 | c.374C>T (p.Ser125Phe) c.278C>T (p.Ser93Phe) n.510C>T | gnomAD v4 |
| 16 | g.177357C>A | CA492994444 | HBA1 | c.375C>A (p.Ser125=) c.279C>A (p.Ser93=) n.511C>A | |
| 16 | g.177357C>G | CA492994445 | HBA1 | c.375C>G (p.Ser125=) c.279C>G (p.Ser93=) n.511C>G | gnomAD v4 |
| 16 | g.177357C>T | CA492994446 | HBA1 | c.375C>T (p.Ser125=) c.279C>T (p.Ser93=) n.511C>T | gnomAD v4 |
| 16 | g.177358C>A | CA393995970 | HBA1 | c.376C>A (p.Leu126Met) c.280C>A (p.Leu94Met) n.512C>A | |
| 16 | g.177358C>G | CA393995971 | HBA1 | c.376C>G (p.Leu126Val) c.280C>G (p.Leu94Val) n.512C>G | |
| 16 | g.177358C>T | CA492994448 | HBA1 | c.376C>T (p.Leu126=) c.280C>T (p.Leu94=) n.512C>T | |
| 16 | g.177359T>A | CA393995973 | HBA1 | c.377T>A (p.Leu126Gln) c.281T>A (p.Leu94Gln) n.513T>A | |
| 16 | g.177359T>C | CA393995974 | HBA1 | c.377T>C (p.Leu126Pro) c.281T>C (p.Leu94Pro) n.513T>C | gnomAD v4 |
| 16 | g.177359T>G | CA393995976 | HBA1 | c.377T>G (p.Leu126Arg) c.281T>G (p.Leu94Arg) n.513T>G | |
| 16 | g.177360G>A | CA492994451 | HBA1 | c.378G>A (p.Leu126=) c.282G>A (p.Leu94=) n.514G>A | dbSNP gnomAD v4 |
| 16 | g.177360G>C | CA492994453 | HBA1 | c.378G>C (p.Leu126=) c.282G>C (p.Leu94=) n.514G>C | COSMIC |
| 16 | g.177360G= | CA2200883285 | HBA1 | c.378G= (p.Leu126=) c.282G= (p.Leu94=) n.514G= | |
| 16 | g.177360G>T | CA492994452 | HBA1 | c.378G>T (p.Leu126=) c.282G>T (p.Leu94=) n.514G>T | |
| 16 | g.177361G>A | CA276417196 | HBA1 | c.379G>A (p.Asp127Asn) c.283G>A (p.Asp95Asn) n.515G>A | dbSNP |
| 16 | g.177361G>C | CA125875 | HBA1 | c.379G>C (p.Asp127His) c.283G>C (p.Asp95His) n.515G>C | ClinVar dbSNP |
| 16 | g.177361G= | CA2200883286 | HBA1 | c.379G= (p.Asp127=) c.283G= (p.Asp95=) n.515G= | |
| 16 | g.177361G>T | CA276417201 | HBA1 | c.379G>T (p.Asp127Tyr) c.283G>T (p.Asp95Tyr) n.515G>T | ClinVar dbSNP |
| 16 | g.177362A= | CA2200883287 | HBA1 | c.380A= (p.Asp127=) c.284A= (p.Asp95=) n.516A= | |
| 16 | g.177362A>C | CA276417205 | HBA1 | c.380A>C (p.Asp127Ala) c.284A>C (p.Asp95Ala) n.516A>C | dbSNP |
| 16 | g.177362A>G | CA276417209 | HBA1 | c.380A>G (p.Asp127Gly) c.284A>G (p.Asp95Gly) n.516A>G | dbSNP |
| 16 | g.177362A>T | CA125933 | HBA1 | c.380A>T (p.Asp127Val) c.284A>T (p.Asp95Val) n.516A>T | ClinVar dbSNP |
| 16 | g.177363C>A | CA393995978 | HBA1 | c.381C>A (p.Asp127Glu) c.285C>A (p.Asp95Glu) n.517C>A | |
| 16 | g.177363C= | CA2200883288 | HBA1 | c.381C= (p.Asp127=) c.285C= (p.Asp95=) n.517C= | |
| 16 | g.177363C>G | CA276417212 | HBA1 | c.381C>G (p.Asp127Glu) c.285C>G (p.Asp95Glu) n.517C>G | dbSNP |
| 16 | g.177363C>T | CA492994455 | HBA1 | c.381C>T (p.Asp127=) c.285C>T (p.Asp95=) n.517C>T | |
| 16 | g.177364A= | CA2200883289 | HBA1 | c.382A= (p.Lys128=) c.286A= (p.Lys96=) n.518A= | |
| 16 | g.177364A>C | CA393995980 | HBA1 | c.382A>C (p.Lys128Gln) c.286A>C (p.Lys96Gln) n.518A>C | |
| 16 | g.177364A>G | CA393995981 | HBA1 | c.382A>G (p.Lys128Glu) c.286A>G (p.Lys96Glu) n.518A>G | |
| 16 | g.177364A>T | CA393995982 | HBA1 | c.382A>T (p.Lys128Ter) c.286A>T (p.Lys96Ter) n.518A>T | dbSNP |
| 16 | g.177365A= | CA2200883290 | HBA1 | c.383A= (p.Lys128=) c.287A= (p.Lys96=) n.519A= | |
| 16 | g.177365A>C | CA125891 | HBA1 | c.383A>C (p.Lys128Thr) c.287A>C (p.Lys96Thr) n.519A>C | ClinVar dbSNP |
| 16 | g.177365A>G | CA393995984 | HBA1 | c.383A>G (p.Lys128Arg) c.287A>G (p.Lys96Arg) n.519A>G | |
| 16 | g.177365A>T | CA393995983 | HBA1 | c.383A>T (p.Lys128Met) c.287A>T (p.Lys96Met) n.519A>T | |
| 16 | g.177366G>A | CA492994459 | HBA1 | c.384G>A (p.Lys128=) c.288G>A (p.Lys96=) n.520G>A | |
| 16 | g.177366G>C | CA125795 | HBA1 | c.384G>C (p.Lys128Asn) c.288G>C (p.Lys96Asn) n.520G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177366G= | CA2200883292 | HBA1 | c.384G= (p.Lys128=) c.288G= (p.Lys96=) n.520G= | |
| 16 | g.177366G>T | CA276417219 | HBA1 | c.384G>T (p.Lys128Asn) c.288G>T (p.Lys96Asn) n.520G>T | dbSNP |
| 16 | g.177366_177367delinsGT | CA2200883291 | HBA1 | c.384_385delinsGT (p.Lys128=) c.288_289delinsGT (p.Lys96=) n.520_521delinsGT | |
| 16 | g.177367T>A | CA393995985 | HBA1 | c.385T>A (p.Phe129Ile) c.289T>A (p.Phe97Ile) n.521T>A | |
| 16 | g.177367T>C | CA393995986 | HBA1 | c.385T>C (p.Phe129Leu) c.289T>C (p.Phe97Leu) n.521T>C | |
| 16 | g.177367T>G | CA393995987 | HBA1 | c.385T>G (p.Phe129Val) c.289T>G (p.Phe97Val) n.521T>G | dbSNP gnomAD v4 |
| 16 | g.177367T= | CA2200883293 | HBA1 | c.385T= (p.Phe129=) c.289T= (p.Phe97=) n.521T= | |
| 16 | g.177368del | CA7770287 | HBA1 | c.386del (p.Phe129SerfsTer5) c.290del (p.Phe97SerfsTer5) n.522del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.177368T>A | CA393995988 | HBA1 | c.386T>A (p.Phe129Tyr) c.290T>A (p.Phe97Tyr) n.522T>A | |
| 16 | g.177368T>C | CA393995990 | HBA1 | c.386T>C (p.Phe129Ser) c.290T>C (p.Phe97Ser) n.522T>C | |
| 16 | g.177368T>G | CA393995989 | HBA1 | c.386T>G (p.Phe129Cys) c.290T>G (p.Phe97Cys) n.522T>G | |
| 16 | g.177369C>A | CA393995991 | HBA1 | c.387C>A (p.Phe129Leu) c.291C>A (p.Phe97Leu) n.523C>A | gnomAD v4 |
| 16 | g.177369C>G | CA393995992 | HBA1 | c.387C>G (p.Phe129Leu) c.291C>G (p.Phe97Leu) n.523C>G | |
| 16 | g.177369C>T | CA492994461 | HBA1 | c.387C>T (p.Phe129=) c.291C>T (p.Phe97=) n.523C>T | dbSNP gnomAD v4 |
| 16 | g.177370C>A | CA393995993 | HBA1 | c.388C>A (p.Leu130Met) c.292C>A (p.Leu98Met) n.524C>A | |
| 16 | g.177370C>G | CA393995994 | HBA1 | c.388C>G (p.Leu130Val) c.292C>G (p.Leu98Val) n.524C>G | |
| 16 | g.177370C>T | CA492994462 | HBA1 | c.388C>T (p.Leu130=) c.292C>T (p.Leu98=) n.524C>T | gnomAD v4 |
| 16 | g.177371T>A | CA393995995 | HBA1 | c.389T>A (p.Leu130Gln) c.293T>A (p.Leu98Gln) n.525T>A | |
| 16 | g.177371T>C | CA125979 | HBA1 | c.389T>C (p.Leu130Pro) c.293T>C (p.Leu98Pro) n.525T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177371T>G | CA393995996 | HBA1 | c.389T>G (p.Leu130Arg) c.293T>G (p.Leu98Arg) n.525T>G | |
| 16 | g.177371T= | CA2200883294 | HBA1 | c.389T= (p.Leu130=) c.293T= (p.Leu98=) n.525T= | |
| 16 | g.177372G>A | CA492994464 | HBA1 | c.390G>A (p.Leu130=) c.294G>A (p.Leu98=) n.526G>A | |
| 16 | g.177372G>C | CA492994465 | HBA1 | c.390G>C (p.Leu130=) c.294G>C (p.Leu98=) n.526G>C | |
| 16 | g.177372G>T | CA492994466 | HBA1 | c.390G>T (p.Leu130=) c.294G>T (p.Leu98=) n.526G>T | |
| 16 | g.177373G>A | CA393995997 | HBA1 | c.391G>A (p.Ala131Thr) c.295G>A (p.Ala99Thr) n.527G>A | dbSNP |
| 16 | g.177373G>C | CA393995998 | HBA1 | c.391G>C (p.Ala131Pro) c.295G>C (p.Ala99Pro) n.527G>C | |
| 16 | g.177373G= | CA2200883295 | HBA1 | c.391G= (p.Ala131=) c.295G= (p.Ala99=) n.527G= | |
| 16 | g.177373G>T | CA393995999 | HBA1 | c.391G>T (p.Ala131Ser) c.295G>T (p.Ala99Ser) n.527G>T | |
| 16 | g.177374C>A | CA125957 | HBA1 | c.392C>A (p.Ala131Asp) c.296C>A (p.Ala99Asp) n.528C>A | ClinVar dbSNP |
| 16 | g.177374C= | CA2200883296 | HBA1 | c.392C= (p.Ala131=) c.296C= (p.Ala99=) n.528C= | |
| 16 | g.177374C>G | CA393996000 | HBA1 | c.392C>G (p.Ala131Gly) c.296C>G (p.Ala99Gly) n.528C>G | |
| 16 | g.177374C>T | CA7770288 | HBA1 | c.392C>T (p.Ala131Val) c.296C>T (p.Ala99Val) n.528C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.177375T>A | CA492994471 | HBA1 | c.393T>A (p.Ala131=) c.297T>A (p.Ala99=) n.529T>A | |
| 16 | g.177375T>C | CA7770289 | HBA1 | c.393T>C (p.Ala131=) c.297T>C (p.Ala99=) n.529T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.177375T>G | CA492994469 | HBA1 | c.393T>G (p.Ala131=) c.297T>G (p.Ala99=) n.529T>G | |
| 16 | g.177375T= | CA2200883297 | HBA1 | c.393T= (p.Ala131=) c.297T= (p.Ala99=) n.529T= | |
| 16 | g.177376dup | CA2695221237 | HBA1 | c.394dup (p.Ser132PhefsTer?) c.298dup (p.Ser100PhefsTer?) n.530dup | |
| 16 | g.177376T>A | CA393996001 | HBA1 | c.394T>A (p.Ser132Thr) c.298T>A (p.Ser100Thr) n.530T>A | |
| 16 | g.177376T>C | CA125939 | HBA1 | c.394T>C (p.Ser132Pro) c.298T>C (p.Ser100Pro) n.530T>C | ClinVar dbSNP |
| 16 | g.177376T>G | CA393996002 | HBA1 | c.394T>G (p.Ser132Ala) c.298T>G (p.Ser100Ala) n.530T>G | dbSNP gnomAD v4 |
| 16 | g.177376T= | CA2200883298 | HBA1 | c.394T= (p.Ser132=) c.298T= (p.Ser100=) n.530T= | |
| 16 | g.177377C>A | CA393996003 | HBA1 | c.395C>A (p.Ser132Tyr) c.299C>A (p.Ser100Tyr) n.531C>A | |
| 16 | g.177377C= | CA2200883299 | HBA1 | c.395C= (p.Ser132=) c.299C= (p.Ser100=) n.531C= | |
| 16 | g.177377C>G | CA393996004 | HBA1 | c.395C>G (p.Ser132Cys) c.299C>G (p.Ser100Cys) n.531C>G | |
| 16 | g.177377C>T | CA276417233 | HBA1 | c.395C>T (p.Ser132Phe) c.299C>T (p.Ser100Phe) n.531C>T | dbSNP |
| 16 | g.177377_177378delinsCT | CA2200883300 | HBA1 | c.395_396delinsCT (p.Ser132=) c.299_300delinsCT (p.Ser100=) n.531_532delinsCT | |
| 16 | g.177378del | CA276417241 | HBA1 | c.396del (p.Val133Ter) c.300del (p.Val101Ter) n.532del | dbSNP |
| 16 | g.177378T>A | CA492994472 | HBA1 | c.396T>A (p.Ser132=) c.300T>A (p.Ser100=) n.532T>A | |
| 16 | g.177378T>C | CA7770290 | HBA1 | c.396T>C (p.Ser132=) c.300T>C (p.Ser100=) n.532T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177378T>G | CA492994474 | HBA1 | c.396T>G (p.Ser132=) c.300T>G (p.Ser100=) n.532T>G | |
| 16 | g.177378T= | CA2200883301 | HBA1 | c.396T= (p.Ser132=) c.300T= (p.Ser100=) n.532T= | |
| 16 | g.177378dup | CA276417238 | HBA1 | c.396dup (p.Val133CysfsTer?) c.300dup (p.Val101CysfsTer?) n.532dup | ClinVar dbSNP |
| 16 | g.177379G>A | CA276417245 | HBA1 | c.397G>A (p.Val133Met) c.301G>A (p.Val101Met) n.533G>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.177379G>C | CA393996006 | HBA1 | c.397G>C (p.Val133Leu) c.301G>C (p.Val101Leu) n.533G>C | |
| 16 | g.177379G= | CA2200883302 | HBA1 | c.397G= (p.Val133=) c.301G= (p.Val101=) n.533G= | |
| 16 | g.177379G>T | CA393996005 | HBA1 | c.397G>T (p.Val133Leu) c.301G>T (p.Val101Leu) n.533G>T | |
| 16 | g.177380_177383dup | CA2575852724 | HBA1 | c.398_401dup (p.Thr135GlufsTer?) c.302_305dup (p.Thr103GlufsTer?) n.534_537dup | |
| 16 | g.177380T>A | CA393996007 | HBA1 | c.398T>A (p.Val133Glu) c.302T>A (p.Val101Glu) n.534T>A | |
| 16 | g.177380T>C | CA393996008 | HBA1 | c.398T>C (p.Val133Ala) c.302T>C (p.Val101Ala) n.534T>C | |
| 16 | g.177380T>G | CA125955 | HBA1 | c.398T>G (p.Val133Gly) c.302T>G (p.Val101Gly) n.534T>G | ClinVar dbSNP |
| 16 | g.177380T= | CA2200883303 | HBA1 | c.398T= (p.Val133=) c.302T= (p.Val101=) n.534T= | |
| 16 | g.177381G>A | CA492994478 | HBA1 | c.399G>A (p.Val133=) c.303G>A (p.Val101=) n.535G>A | |
| 16 | g.177381G>C | CA492994476 | HBA1 | c.399G>C (p.Val133=) c.303G>C (p.Val101=) n.535G>C | |
| 16 | g.177381G>T | CA492994477 | HBA1 | c.399G>T (p.Val133=) c.303G>T (p.Val101=) n.535G>T | |
| 16 | g.177382A= | CA2200883304 | HBA1 | c.400A= (p.Ser134=) c.304A= (p.Ser102=) n.536A= | |
| 16 | g.177382A>C | CA276417248 | HBA1 | c.400A>C (p.Ser134Arg) c.304A>C (p.Ser102Arg) n.536A>C | dbSNP |
| 16 | g.177382A>G | CA393996009 | HBA1 | c.400A>G (p.Ser134Gly) c.304A>G (p.Ser102Gly) n.536A>G | |
| 16 | g.177382A>T | CA393996010 | HBA1 | c.400A>T (p.Ser134Cys) c.304A>T (p.Ser102Cys) n.536A>T | |
| 16 | g.177383G>A | CA276417252 | HBA1 | c.401G>A (p.Ser134Asn) c.305G>A (p.Ser102Asn) n.537G>A | dbSNP gnomAD v4 |
| 16 | g.177383G>C | CA393996011 | HBA1 | c.401G>C (p.Ser134Thr) c.305G>C (p.Ser102Thr) n.537G>C | |
| 16 | g.177383G= | CA2200883305 | HBA1 | c.401G= (p.Ser134=) c.305G= (p.Ser102=) n.537G= | |
| 16 | g.177383G>T | CA393996012 | HBA1 | c.401G>T (p.Ser134Ile) c.305G>T (p.Ser102Ile) n.537G>T | |
| 16 | g.177383_177385delinsGCA | CA2200883306 | HBA1 | c.401_403delinsGCA (p.Ser134=) c.305_307delinsGCA (p.Ser102=) n.537_539delinsGCA | |
| 16 | g.177385_177391del | CA2739290704 | HBA1 | c.403_409del (p.Thr135Ter) c.307_313del (p.Thr103Ter) n.539_545del | |
| 16 | g.177384C>A | CA276417256 | HBA1 | c.402C>A (p.Ser134Arg) c.306C>A (p.Ser102Arg) n.538C>A | dbSNP |
| 16 | g.177384C= | CA2200883307 | HBA1 | c.402C= (p.Ser134=) c.306C= (p.Ser102=) n.538C= | |
| 16 | g.177384C>G | CA276417259 | HBA1 | c.402C>G (p.Ser134Arg) c.306C>G (p.Ser102Arg) n.538C>G | dbSNP |
| 16 | g.177384C>T | CA492994480 | HBA1 | c.402C>T (p.Ser134=) c.306C>T (p.Ser102=) n.538C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177385_177386del | CA718607494 | HBA1 | c.403_404del (p.Thr135ArgfsTer?) c.307_308del (p.Thr103ArgfsTer?) n.539_540del | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177385A= | CA2200883309 | HBA1 | c.403A= (p.Thr135=) c.307A= (p.Thr103=) n.539A= | |
| 16 | g.177385A>C | CA393996013 | HBA1 | c.403A>C (p.Thr135Pro) c.307A>C (p.Thr103Pro) n.539A>C | |
| 16 | g.177385A>G | CA393996014 | HBA1 | c.403A>G (p.Thr135Ala) c.307A>G (p.Thr103Ala) n.539A>G | |
| 16 | g.177385A>T | CA276417266 | HBA1 | c.403A>T (p.Thr135Ser) c.307A>T (p.Thr103Ser) n.539A>T | dbSNP |
| 16 | g.177385_177386delinsAC | CA2200883308 | HBA1 | c.403_404delinsAC (p.Thr135=) c.307_308delinsAC (p.Thr103=) n.539_540delinsAC | |
| 16 | g.177386C>A | CA393996015 | HBA1 | c.404C>A (p.Thr135Asn) c.308C>A (p.Thr103Asn) n.540C>A | |
| 16 | g.177386C= | CA2200883310 | HBA1 | c.404C= (p.Thr135=) c.308C= (p.Thr103=) n.540C= | |
| 16 | g.177386C>G | CA276417272 | HBA1 | c.404C>G (p.Thr135Ser) c.308C>G (p.Thr103Ser) n.540C>G | dbSNP gnomAD v4 |
| 16 | g.177386C>T | CA7770291 | HBA1 | c.404C>T (p.Thr135Ile) c.308C>T (p.Thr103Ile) n.540C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.177387del | CA276417269 | HBA1 | c.405del (p.Val136CysfsTer2) c.309del (p.Val104CysfsTer2) n.541del | dbSNP |
| 16 | g.177387C>A | CA492994485 | HBA1 | c.405C>A (p.Thr135=) c.309C>A (p.Thr103=) n.541C>A | |
| 16 | g.177387C= | CA2200883311 | HBA1 | c.405C= (p.Thr135=) c.309C= (p.Thr103=) n.541C= | |
| 16 | g.177387C>G | CA492994486 | HBA1 | c.405C>G (p.Thr135=) c.309C>G (p.Thr103=) n.541C>G | gnomAD v4 |
| 16 | g.177387C>T | CA492994487 | HBA1 | c.405C>T (p.Thr135=) c.309C>T (p.Thr103=) n.541C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.177388G>A | CA276417276 | HBA1 | c.406G>A (p.Val136Met) c.310G>A (p.Val104Met) n.542G>A | dbSNP |
| 16 | g.177388G>C | CA393996016 | HBA1 | c.406G>C (p.Val136Leu) c.310G>C (p.Val104Leu) n.542G>C | |
| 16 | g.177388G= | CA2200883312 | HBA1 | c.406G= (p.Val136=) c.310G= (p.Val104=) n.542G= | |
| 16 | g.177388G>T | CA393996017 | HBA1 | c.406G>T (p.Val136Leu) c.310G>T (p.Val104Leu) n.542G>T | |
| 16 | g.177389T>A | CA125937 | HBA1 | c.407T>A (p.Val136Glu) c.311T>A (p.Val104Glu) n.543T>A | ClinVar dbSNP |
| 16 | g.177389T>C | CA393996018 | HBA1 | c.407T>C (p.Val136Ala) c.311T>C (p.Val104Ala) n.543T>C | gnomAD v4 |
| 16 | g.177389T>G | CA393996019 | HBA1 | c.407T>G (p.Val136Gly) c.311T>G (p.Val104Gly) n.543T>G | |
| 16 | g.177389T= | CA2200883313 | HBA1 | c.407T= (p.Val136=) c.311T= (p.Val104=) n.543T= | |
| 16 | g.177390_177397del | CA2575852733 | HBA1 | c.408_415del (p.Leu137GlnfsTer?) c.312_319del (p.Leu105GlnfsTer?) n.544_551del | |
| 16 | g.177390G>A | CA492994489 | HBA1 | c.408G>A (p.Val136=) c.312G>A (p.Val104=) n.544G>A | dbSNP gnomAD v4 |
| 16 | g.177390G>C | CA276417281 | HBA1 | c.408G>C (p.Val136=) c.312G>C (p.Val104=) n.544G>C | dbSNP |
| 16 | g.177390G= | CA2200883314 | HBA1 | c.408G= (p.Val136=) c.312G= (p.Val104=) n.544G= | |
| 16 | g.177390G>T | CA492994490 | HBA1 | c.408G>T (p.Val136=) c.312G>T (p.Val104=) n.544G>T | |
| 16 | g.177391C>A | CA125701 | HBA1 | c.409C>A (p.Leu137Met) c.313C>A (p.Leu105Met) n.545C>A | ClinVar dbSNP |
| 16 | g.177391C= | CA2200883315 | HBA1 | c.409C= (p.Leu137=) c.313C= (p.Leu105=) n.545C= | |
| 16 | g.177391C>G | CA393996020 | HBA1 | c.409C>G (p.Leu137Val) c.313C>G (p.Leu105Val) n.545C>G | |
| 16 | g.177391C>T | CA492994491 | HBA1 | c.409C>T (p.Leu137=) c.313C>T (p.Leu105=) n.545C>T | |
| 16 | g.177392T>A | CA393996021 | HBA1 | c.410T>A (p.Leu137Gln) c.314T>A (p.Leu105Gln) n.546T>A | |
| 16 | g.177392T>C | CA276417285 | HBA1 | c.410T>C (p.Leu137Pro) c.314T>C (p.Leu105Pro) n.546T>C | dbSNP |
| 16 | g.177392T>G | CA215116 | HBA1 | c.410T>G (p.Leu137Arg) c.314T>G (p.Leu105Arg) n.546T>G | ClinVar dbSNP |
| 16 | g.177392T= | CA2200883316 | HBA1 | c.410T= (p.Leu137=) c.314T= (p.Leu105=) n.546T= | |
| 16 | g.177393G>A | CA492994493 | HBA1 | c.411G>A (p.Leu137=) c.315G>A (p.Leu105=) n.547G>A | gnomAD v4 COSMIC |
| 16 | g.177393G>C | CA492994494 | HBA1 | c.411G>C (p.Leu137=) c.315G>C (p.Leu105=) n.547G>C | |
| 16 | g.177393G>T | CA492994495 | HBA1 | c.411G>T (p.Leu137=) c.315G>T (p.Leu105=) n.547G>T | gnomAD v4 |
| 16 | g.177394A= | CA2200883317 | HBA1 | c.412A= (p.Thr138=) c.316A= (p.Thr106=) n.548A= | |
| 16 | g.177394A>C | CA276417288 | HBA1 | c.412A>C (p.Thr138Pro) c.316A>C (p.Thr106Pro) n.548A>C | dbSNP |
| 16 | g.177394A>G | CA393996022 | HBA1 | c.412A>G (p.Thr138Ala) c.316A>G (p.Thr106Ala) n.548A>G | |
| 16 | g.177394A>T | CA393996023 | HBA1 | c.412A>T (p.Thr138Ser) c.316A>T (p.Thr106Ser) n.548A>T | |
| 16 | g.177395C>A | CA393996024 | HBA1 | c.413C>A (p.Thr138Asn) c.317C>A (p.Thr106Asn) n.549C>A | |
| 16 | g.177395C= | CA2200883318 | HBA1 | c.413C= (p.Thr138=) c.317C= (p.Thr106=) n.549C= | |
| 16 | g.177395C>G | CA393996025 | HBA1 | c.413C>G (p.Thr138Ser) c.317C>G (p.Thr106Ser) n.549C>G | |
| 16 | g.177395C>T | CA393996026 | HBA1 | c.413C>T (p.Thr138Ile) c.317C>T (p.Thr106Ile) n.549C>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.177396C>A | CA492994499 | HBA1 | c.414C>A (p.Thr138=) c.318C>A (p.Thr106=) n.550C>A | |
| 16 | g.177396C= | CA2200883319 | HBA1 | c.414C= (p.Thr138=) c.318C= (p.Thr106=) n.550C= | |
| 16 | g.177396C>G | CA492994497 | HBA1 | c.414C>G (p.Thr138=) c.318C>G (p.Thr106=) n.550C>G | |
| 16 | g.177396C>T | CA492994496 | HBA1 | c.414C>T (p.Thr138=) c.318C>T (p.Thr106=) n.550C>T | dbSNP gnomAD v4 |
| 16 | g.177397T>A | CA393996027 | HBA1 | c.415T>A (p.Ser139Thr) c.319T>A (p.Ser107Thr) n.551T>A | |
| 16 | g.177397T>C | CA125678 | HBA1 | c.415T>C (p.Ser139Pro) c.319T>C (p.Ser107Pro) n.551T>C | ClinVar dbSNP |
| 16 | g.177397T>G | CA393996028 | HBA1 | c.415T>G (p.Ser139Ala) c.319T>G (p.Ser107Ala) n.551T>G | dbSNP |
| 16 | g.177397T= | CA2200883320 | HBA1 | c.415T= (p.Ser139=) c.319T= (p.Ser107=) n.551T= | |
| 16 | g.177398C>A | CA393996029 | HBA1 | c.416C>A (p.Ser139Tyr) c.320C>A (p.Ser107Tyr) n.552C>A | |
| 16 | g.177398C= | CA2200883321 | HBA1 | c.416C= (p.Ser139=) c.320C= (p.Ser107=) n.552C= | |
| 16 | g.177398C>G | CA276417290 | HBA1 | c.416C>G (p.Ser139Cys) c.320C>G (p.Ser107Cys) n.552C>G | ClinVar dbSNP |
| 16 | g.177398C>T | CA393996030 | HBA1 | c.416C>T (p.Ser139Phe) c.320C>T (p.Ser107Phe) n.552C>T | |
| 16 | g.177399C>A | CA492994502 | HBA1 | c.417C>A (p.Ser139=) c.321C>A (p.Ser107=) n.553C>A | dbSNP gnomAD v2 |
| 16 | g.177399C= | CA2200883323 | HBA1 | c.417C= (p.Ser139=) c.321C= (p.Ser107=) n.553C= | |
| 16 | g.177399C>G | CA276417292 | HBA1 | c.417C>G (p.Ser139=) c.321C>G (p.Ser107=) n.553C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177399C>T | CA492994506 | HBA1 | c.417C>T (p.Ser139=) c.321C>T (p.Ser107=) n.553C>T | gnomAD v4 |
| 16 | g.177399_177400delinsCA | CA2200883322 | HBA1 | c.417_418delinsCA (p.Ser139=) c.321_322delinsCA (p.Ser107=) n.553_554delinsCA | |
| 16 | g.177400A= | CA2200883324 | HBA1 | c.418A= (p.Lys140=) c.322A= (p.Lys108=) n.554A= | |
| 16 | g.177400A>C | CA393996031 | HBA1 | c.418A>C (p.Lys140Gln) c.322A>C (p.Lys108Gln) n.554A>C | gnomAD v4 |
| 16 | g.177400A>G | CA276417300 | HBA1 | c.418A>G (p.Lys140Glu) c.322A>G (p.Lys108Glu) n.554A>G | dbSNP |
| 16 | g.177400A>T | CA393996032 | HBA1 | c.418A>T (p.Lys140Ter) c.322A>T (p.Lys108Ter) n.554A>T | |
| 16 | g.177402del | CA276417297 | HBA1 | c.420del (p.Lys140AsnfsTer?) c.324del (p.Lys108AsnfsTer?) n.556del | dbSNP |
| 16 | g.177401A= | CA2200883325 | HBA1 | c.419A= (p.Lys140=) c.323A= (p.Lys108=) n.555A= | |
| 16 | g.177401A>C | CA125909 | HBA1 | c.419A>C (p.Lys140Thr) c.323A>C (p.Lys108Thr) n.555A>C | ClinVar dbSNP gnomAD v4 |
| 16 | g.177401A>G | CA393996033 | HBA1 | c.419A>G (p.Lys140Arg) c.323A>G (p.Lys108Arg) n.555A>G | |
| 16 | g.177401A>T | CA393996034 | HBA1 | c.419A>T (p.Lys140Ile) c.323A>T (p.Lys108Ile) n.555A>T | |
| 16 | g.177402A>C | CA393996035 | HBA1 | c.420A>C (p.Lys140Asn) c.324A>C (p.Lys108Asn) n.556A>C | gnomAD v4 |
| 16 | g.177402A>G | CA492994510 | HBA1 | c.420A>G (p.Lys140=) c.324A>G (p.Lys108=) n.556A>G | |
| 16 | g.177402A>T | CA393996036 | HBA1 | c.420A>T (p.Lys140Asn) c.324A>T (p.Lys108Asn) n.556A>T | |
| 16 | g.177403T>A | CA393996037 | HBA1 | c.421T>A (p.Tyr141Asn) c.325T>A (p.Tyr109Asn) n.557T>A | |
| 16 | g.177403T>C | CA125961 | HBA1 | c.421T>C (p.Tyr141His) c.325T>C (p.Tyr109His) n.557T>C | ClinVar dbSNP |
| 16 | g.177403T>G | CA393996038 | HBA1 | c.421T>G (p.Tyr141Asp) c.325T>G (p.Tyr109Asp) n.557T>G | |
| 16 | g.177403T= | CA2200883326 | HBA1 | c.421T= (p.Tyr141=) c.325T= (p.Tyr109=) n.557T= | |
| 16 | g.177404A>C | CA393996176 | HBA1 | c.422A>C (p.Tyr141Ser) c.326A>C (p.Tyr109Ser) n.558A>C | |
| 16 | g.177404A>G | CA393996181 | HBA1 | c.422A>G (p.Tyr141Cys) c.326A>G (p.Tyr109Cys) n.558A>G | |
| 16 | g.177404A>T | CA393996183 | HBA1 | c.422A>T (p.Tyr141Phe) c.326A>T (p.Tyr109Phe) n.558A>T | |
| 16 | g.177405C>A | CA393996185 | HBA1 | c.423C>A (p.Tyr141Ter) c.327C>A (p.Tyr109Ter) n.559C>A | |
| 16 | g.177405C>G | CA393996188 | HBA1 | c.423C>G (p.Tyr141Ter) c.327C>G (p.Tyr109Ter) n.559C>G | |
| 16 | g.177405C>T | CA492787333 | HBA1 | c.423C>T (p.Tyr141=) c.327C>T (p.Tyr109=) n.559C>T | gnomAD v4 |
| 16 | g.177405_177408delinsCCGT | CA2200883327 | HBA1 | c.423_426delinsCCGT (p.Tyr141=) c.327_330delinsCCGT (p.Tyr109=) n.559_562delinsCCGT | |
| 16 | g.177406C>A | CA125773 | HBA1 | c.424C>A (p.Arg142Ser) c.328C>A (p.Arg110Ser) n.560C>A | ClinVar dbSNP |
| 16 | g.177406C= | CA2200883328 | HBA1 | c.424C= (p.Arg142=) c.328C= (p.Arg110=) n.560C= | |
| 16 | g.177406C>G | CA125769 | HBA1 | c.424C>G (p.Arg142Gly) c.328C>G (p.Arg110Gly) n.560C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177406C>T | CA125845 | HBA1 | c.424C>T (p.Arg142Cys) c.328C>T (p.Arg110Cys) n.560C>T | ClinVar dbSNP |
| 16 | g.177406_177408del | CA125803 | HBA1 | c.424_426del (p.Arg142del) c.328_330del (p.Arg110del) n.560_562del | ClinVar dbSNP |
| 16 | g.177407G>A | CA125901 | HBA1 | c.425G>A (p.Arg142His) c.329G>A (p.Arg110His) n.561G>A | ClinVar dbSNP |
| 16 | g.177407G>C | CA125889 | HBA1 | c.425G>C (p.Arg142Pro) c.329G>C (p.Arg110Pro) n.561G>C | ClinVar dbSNP gnomAD v4 |
| 16 | g.177407G= | CA2200883329 | HBA1 | c.425G= (p.Arg142=) c.329G= (p.Arg110=) n.561G= | |
| 16 | g.177407G>T | CA125809 | HBA1 | c.425G>T (p.Arg142Leu) c.329G>T (p.Arg110Leu) n.561G>T | ClinVar dbSNP |
| 16 | g.177408T>A | CA492787335 | HBA1 | c.426T>A (p.Arg142=) c.330T>A (p.Arg110=) n.562T>A | |
| 16 | g.177408T>C | CA492787337 | HBA1 | c.426T>C (p.Arg142=) c.330T>C (p.Arg110=) n.562T>C | |
| 16 | g.177408T>G | CA492787336 | HBA1 | c.426T>G (p.Arg142=) c.330T>G (p.Arg110=) n.562T>G | |
| 16 | g.177409T>A | CA393996194 | HBA1 | c.427T>A (p.Ter143Lys) c.331T>A (p.Ter111Lys) n.563T>A | |
| 16 | g.177409T>C | CA393996195 | HBA1 | c.427T>C (p.Ter143Gln) c.331T>C (p.Ter111Gln) n.563T>C | |
| 16 | g.177409T>G | CA393996196 | HBA1 | c.427T>G (p.Ter143Glu) c.331T>G (p.Ter111Glu) n.563T>G | |
| 16 | g.177410A>C | CA393996198 | HBA1 | c.428A>C (p.Ter143Ser) c.332A>C (p.Ter111Ser) n.564A>C | |
| 16 | g.177410A>G | CA492787338 | HBA1 | c.428A>G (p.Ter143=) c.332A>G (p.Ter111=) n.564A>G | |
| 16 | g.177410A>T | CA393996199 | HBA1 | c.428A>T (p.Ter143Leu) c.332A>T (p.Ter111Leu) n.564A>T | |
| 16 | g.177411A= | CA2200883330 | HBA1 | c.429A= (p.Ter143=) c.333A= (p.Ter111=) n.565A= | |
| 16 | g.177411A>C | CA393996201 | HBA1 | c.429A>C (p.Ter143Tyr) c.333A>C (p.Ter111Tyr) n.565A>C | gnomAD v4 |
| 16 | g.177411A>G | CA492787339 | HBA1 | c.429A>G (p.Ter143=) c.333A>G (p.Ter111=) n.565A>G | dbSNP |
| 16 | g.177411A>T | CA393996202 | HBA1 | c.429A>T (p.Ter143Tyr) c.333A>T (p.Ter111Tyr) n.565A>T | |
| 16 | g.177412G>A | CA2740096800 | HBA1 | c.*1G>A (n.*1G>A) n.566G>A | ClinVar |
| 16 | g.177413C>A | CA973584962 | HBA1 | c.*2C>A (n.*2C>A) n.567C>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177413C= | CA2200883331 | HBA1 | c.*2C= (n.*2C=) n.567C= | |
| 16 | g.177413C>T | CA2630736365 | HBA1 | c.*2C>T (n.*2C>T) n.567C>T | gnomAD v4 |
| 16 | g.177416G>C | CA2805501956 | HBA1 | c.*5G>C (n.*5G>C) n.570G>C | |
| 16 | g.177417A= | CA2200883332 | HBA1 | c.*6A= (n.*6A=) n.571A= | |
| 16 | g.177417A>G | CA620161667 | HBA1 | c.*6A>G (n.*6A>G) n.571A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177419C= | CA2200883333 | HBA1 | c.*8C= (n.*8C=) n.573C= | |
| 16 | g.177419C>G | CA2630736371 | HBA1 | c.*8C>G (n.*8C>G) n.573C>G | gnomAD v4 |
| 16 | g.177419C>T | CA973584964 | HBA1 | c.*8C>T (n.*8C>T) n.573C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177420C>A | CA2731576131 | HBA1 | c.*9C>A (n.*9C>A) n.574C>A | dbSNP |
| 16 | g.177420C= | CA2200883334 | HBA1 | c.*9C= (n.*9C=) n.574C= | |
| 16 | g.177420C>G | CA2575852743 | HBA1 | c.*9C>G (n.*9C>G) n.574C>G | gnomAD v4 |
| 16 | g.177420C>T | CA7770292 | HBA1 | c.*9C>T (n.*9C>T) n.574C>T | dbSNP ExAC gnomAD v2 |
| 16 | g.177422C= | CA2200883335 | HBA1 | c.*11C= (n.*11C=) n.576C= | |
| 16 | g.177422C>G | CA718607583 | HBA1 | c.*11C>G (n.*11C>G) n.576C>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177422C>T | CA7770293 | HBA1 | c.*11C>T (n.*11C>T) n.576C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177423G>A | CA7770294 | HBA1 | c.*12G>A (n.*12G>A) n.577G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.177423G>C | CA7770295 | HBA1 | c.*12G>C (n.*12G>C) n.577G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177423G= | CA2200883336 | HBA1 | c.*12G= (n.*12G=) n.577G= |