UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44260409T>A | CA399794432 | SLC4A1 | c.480A>T (p.Lys160Asn) n.414A>T n.619A>T c.285A>T (p.Lys95Asn) | |
| 17 | g.44260409T>C | CA500288548 | SLC4A1 | c.480A>G (p.Lys160=) n.414A>G n.619A>G c.285A>G (p.Lys95=) | |
| 17 | g.44260409T>G | CA399794433 | SLC4A1 | c.480A>C (p.Lys160Asn) n.414A>C n.619A>C c.285A>C (p.Lys95Asn) | |
| 17 | g.44260410T>A | CA399794434 | SLC4A1 | c.479A>T (p.Lys160Ile) n.413A>T n.618A>T c.284A>T (p.Lys95Ile) | |
| 17 | g.44260410T>C | CA399794436 | SLC4A1 | c.479A>G (p.Lys160Arg) n.413A>G n.618A>G c.284A>G (p.Lys95Arg) | |
| 17 | g.44260410T>G | CA399794440 | SLC4A1 | c.479A>C (p.Lys160Thr) n.413A>C n.618A>C c.284A>C (p.Lys95Thr) | |
| 17 | g.44260411T>A | CA399794443 | SLC4A1 | c.478A>T (p.Lys160Ter) n.412A>T n.617A>T c.283A>T (p.Lys95Ter) | |
| 17 | g.44260411T>C | CA399794446 | SLC4A1 | c.478A>G (p.Lys160Glu) n.412A>G n.617A>G c.283A>G (p.Lys95Glu) | |
| 17 | g.44260411T>G | CA399794457 | SLC4A1 | c.478A>C (p.Lys160Gln) n.412A>C n.617A>C c.283A>C (p.Lys95Gln) | |
| 17 | g.44260412A>C | CA500288549 | SLC4A1 | c.477T>G (p.Leu159=) n.411T>G n.616T>G c.282T>G (p.Leu94=) | |
| 17 | g.44260412A>G | CA500288550 | SLC4A1 | c.477T>C (p.Leu159=) n.411T>C n.616T>C c.282T>C (p.Leu94=) | dbSNP |
| 17 | g.44260412A>T | CA500288551 | SLC4A1 | c.477T>A (p.Leu159=) n.411T>A n.616T>A c.282T>A (p.Leu94=) | |
| 17 | g.44260413A>C | CA399794465 | SLC4A1 | c.476T>G (p.Leu159Arg) n.410T>G n.615T>G c.281T>G (p.Leu94Arg) | |
| 17 | g.44260413A>G | CA399794478 | SLC4A1 | c.476T>C (p.Leu159Pro) n.410T>C n.615T>C c.281T>C (p.Leu94Pro) | |
| 17 | g.44260413A>T | CA399794479 | SLC4A1 | c.476T>A (p.Leu159His) n.410T>A n.615T>A c.281T>A (p.Leu94His) | |
| 17 | g.44260414G>A | CA399794481 | SLC4A1 | c.475C>T (p.Leu159Phe) n.409C>T n.614C>T c.280C>T (p.Leu94Phe) | |
| 17 | g.44260414G>C | CA399794484 | SLC4A1 | c.475C>G (p.Leu159Val) n.409C>G n.614C>G c.280C>G (p.Leu94Val) | |
| 17 | g.44260414G>T | CA399794488 | SLC4A1 | c.475C>A (p.Leu159Ile) n.409C>A n.614C>A c.280C>A (p.Leu94Ile) | |
| 17 | g.44260415C>A | CA500288552 | SLC4A1 | c.474G>T (p.Leu158=) n.408G>T n.613G>T c.279G>T (p.Leu93=) | |
| 17 | g.44260415C>G | CA500288553 | SLC4A1 | c.474G>C (p.Leu158=) n.408G>C n.613G>C c.279G>C (p.Leu93=) | |
| 17 | g.44260415C>T | CA500288554 | SLC4A1 | c.474G>A (p.Leu158=) n.408G>A n.613G>A c.279G>A (p.Leu93=) | |
| 17 | g.44260416A>C | CA399794495 | SLC4A1 | c.473T>G (p.Leu158Arg) n.407T>G n.612T>G c.278T>G (p.Leu93Arg) | |
| 17 | g.44260416A>G | CA399794493 | SLC4A1 | c.473T>C (p.Leu158Pro) n.407T>C n.612T>C c.278T>C (p.Leu93Pro) | |
| 17 | g.44260416A>T | CA399794491 | SLC4A1 | c.473T>A (p.Leu158Gln) n.407T>A n.612T>A c.278T>A (p.Leu93Gln) | |
| 17 | g.44260417G>A | CA500288555 | SLC4A1 | c.472C>T (p.Leu158=) n.406C>T n.611C>T c.277C>T (p.Leu93=) | |
| 17 | g.44260417G>C | CA399794498 | SLC4A1 | c.472C>G (p.Leu158Val) n.406C>G n.611C>G c.277C>G (p.Leu93Val) | |
| 17 | g.44260417G>T | CA399794501 | SLC4A1 | c.472C>A (p.Leu158Met) n.406C>A n.611C>A c.277C>A (p.Leu93Met) | |
| 17 | g.44260418C>A | CA500288556 | SLC4A1 | c.471G>T (p.Leu157=) n.405G>T n.610G>T c.276G>T (p.Leu92=) | |
| 17 | g.44260418C>G | CA500288557 | SLC4A1 | c.471G>C (p.Leu157=) n.405G>C n.610G>C c.276G>C (p.Leu92=) | |
| 17 | g.44260418C>T | CA500288558 | SLC4A1 | c.471G>A (p.Leu157=) n.405G>A n.610G>A c.276G>A (p.Leu92=) | |
| 17 | g.44260419A>C | CA399794520 | SLC4A1 | c.470T>G (p.Leu157Arg) n.404T>G n.609T>G c.275T>G (p.Leu92Arg) | |
| 17 | g.44260419A>G | CA399794522 | SLC4A1 | c.470T>C (p.Leu157Pro) n.404T>C n.609T>C c.275T>C (p.Leu92Pro) | gnomAD v4 |
| 17 | g.44260419A>T | CA399794526 | SLC4A1 | c.470T>A (p.Leu157Gln) n.404T>A n.609T>A c.275T>A (p.Leu92Gln) | |
| 17 | g.44260420G>A | CA500288559 | SLC4A1 | c.469C>T (p.Leu157=) n.403C>T n.608C>T c.274C>T (p.Leu92=) | gnomAD v4 |
| 17 | g.44260420G>C | CA399794529 | SLC4A1 | c.469C>G (p.Leu157Val) n.403C>G n.608C>G c.274C>G (p.Leu92Val) | gnomAD v4 |
| 17 | g.44260420G>T | CA399794533 | SLC4A1 | c.469C>A (p.Leu157Met) n.403C>A n.608C>A c.274C>A (p.Leu92Met) | |
| 17 | g.44260421G>A | CA500288560 | SLC4A1 | c.468C>T (p.Ala156=) n.402C>T n.607C>T c.273C>T (p.Ala91=) | dbSNP |
| 17 | g.44260421G>C | CA500288561 | SLC4A1 | c.468C>G (p.Ala156=) n.402C>G n.607C>G c.273C>G (p.Ala91=) | |
| 17 | g.44260421G= | CA2261310890 | SLC4A1 | c.468C= (p.Ala156=) n.402C= n.607C= c.273C= (p.Ala91=) | |
| 17 | g.44260421G>T | CA500288562 | SLC4A1 | c.468C>A (p.Ala156=) n.402C>A n.607C>A c.273C>A (p.Ala91=) | |
| 17 | g.44260422G>A | CA399794537 | SLC4A1 | c.467C>T (p.Ala156Val) n.401C>T n.606C>T c.272C>T (p.Ala91Val) | |
| 17 | g.44260422G>C | CA399794539 | SLC4A1 | c.467C>G (p.Ala156Gly) n.401C>G n.606C>G c.272C>G (p.Ala91Gly) | |
| 17 | g.44260422G>T | CA399794543 | SLC4A1 | c.467C>A (p.Ala156Asp) n.401C>A n.606C>A c.272C>A (p.Ala91Asp) | |
| 17 | g.44260423C>A | CA399794547 | SLC4A1 | c.466G>T (p.Ala156Ser) n.400G>T n.605G>T c.271G>T (p.Ala91Ser) | |
| 17 | g.44260423C= | CA2261310891 | SLC4A1 | c.466G= (p.Ala156=) n.400G= n.605G= c.271G= (p.Ala91=) | |
| 17 | g.44260423C>G | CA399794550 | SLC4A1 | c.466G>C (p.Ala156Pro) n.400G>C n.605G>C c.271G>C (p.Ala91Pro) | |
| 17 | g.44260423C>T | CA399794554 | SLC4A1 | c.466G>A (p.Ala156Thr) n.400G>A n.605G>A c.271G>A (p.Ala91Thr) | dbSNP gnomAD v4 |
| 17 | g.44260424C>A | CA500288563 | SLC4A1 | c.465G>T (p.Arg155=) n.399G>T n.604G>T c.270G>T (p.Arg90=) | |
| 17 | g.44260424C= | CA2261310892 | SLC4A1 | c.465G= (p.Arg155=) n.399G= n.604G= c.270G= (p.Arg90=) | |
| 17 | g.44260424C>G | CA500288564 | SLC4A1 | c.465G>C (p.Arg155=) n.399G>C n.604G>C c.270G>C (p.Arg90=) | |
| 17 | g.44260424C>T | CA8600593 | SLC4A1 | c.465G>A (p.Arg155=) n.399G>A n.604G>A c.270G>A (p.Arg90=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44260425C>A | CA399794557 | SLC4A1 | c.464G>T (p.Arg155Leu) n.398G>T n.603G>T c.269G>T (p.Arg90Leu) | |
| 17 | g.44260425C= | CA2261310893 | SLC4A1 | c.464G= (p.Arg155=) n.398G= n.603G= c.269G= (p.Arg90=) | |
| 17 | g.44260425C>G | CA399794556 | SLC4A1 | c.464G>C (p.Arg155Pro) n.398G>C n.603G>C c.269G>C (p.Arg90Pro) | |
| 17 | g.44260425C>T | CA8600594 | SLC4A1 | c.464G>A (p.Arg155Gln) n.398G>A n.603G>A c.269G>A (p.Arg90Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44260426G>A | CA8600595 | SLC4A1 | c.463C>T (p.Arg155Trp) n.397C>T n.602C>T c.268C>T (p.Arg90Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44260426G>C | CA399794566 | SLC4A1 | c.463C>G (p.Arg155Gly) n.397C>G n.602C>G c.268C>G (p.Arg90Gly) | |
| 17 | g.44260426G= | CA2261310894 | SLC4A1 | c.463C= (p.Arg155=) n.397C= n.602C= c.268C= (p.Arg90=) | |
| 17 | g.44260426G>T | CA500288565 | SLC4A1 | c.463C>A (p.Arg155=) n.397C>A n.602C>A c.268C>A (p.Arg90=) | |
| 17 | g.44260427G>A | CA500288566 | SLC4A1 | c.462C>T (p.Leu154=) n.396C>T n.601C>T c.267C>T (p.Leu89=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44260427G>C | CA500288567 | SLC4A1 | c.462C>G (p.Leu154=) n.396C>G n.601C>G c.267C>G (p.Leu89=) | |
| 17 | g.44260427G= | CA2261310896 | SLC4A1 | c.462C= (p.Leu154=) n.396C= n.601C= c.267C= (p.Leu89=) | |
| 17 | g.44260427G>T | CA500288568 | SLC4A1 | c.462C>A (p.Leu154=) n.396C>A n.601C>A c.267C>A (p.Leu89=) | |
| 17 | g.44260427_44260430delinsGAGC | CA2261310895 | SLC4A1 | c.459_462delinsGCTC (p.Leu153=) n.393_396delinsGCTC n.598_601delinsGCTC c.264_267delinsGCTC (p.Leu88=) | |
| 17 | g.44260428A>C | CA399794571 | SLC4A1 | c.461T>G (p.Leu154Arg) n.395T>G n.600T>G c.266T>G (p.Leu89Arg) | |
| 17 | g.44260428A>G | CA399794575 | SLC4A1 | c.461T>C (p.Leu154Pro) n.395T>C n.600T>C c.266T>C (p.Leu89Pro) | |
| 17 | g.44260428A>T | CA399794581 | SLC4A1 | c.461T>A (p.Leu154His) n.395T>A n.600T>A c.266T>A (p.Leu89His) | |
| 17 | g.44260431_44260433del | CA8600596 | SLC4A1 | c.459_461del (p.Leu154del) n.393_395del n.598_600del c.264_266del (p.Leu89del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44260429G>A | CA399794588 | SLC4A1 | c.460C>T (p.Leu154Phe) n.394C>T n.599C>T c.265C>T (p.Leu89Phe) | |
| 17 | g.44260429G>C | CA399794591 | SLC4A1 | c.460C>G (p.Leu154Val) n.394C>G n.599C>G c.265C>G (p.Leu89Val) | |
| 17 | g.44260429G>T | CA399794594 | SLC4A1 | c.460C>A (p.Leu154Ile) n.394C>A n.599C>A c.265C>A (p.Leu89Ile) | |
| 17 | g.44260430C>A | CA500288571 | SLC4A1 | c.459G>T (p.Leu153=) n.393G>T n.598G>T c.264G>T (p.Leu88=) | |
| 17 | g.44260430C>G | CA500288569 | SLC4A1 | c.459G>C (p.Leu153=) n.393G>C n.598G>C c.264G>C (p.Leu88=) | |
| 17 | g.44260430C>T | CA500288570 | SLC4A1 | c.459G>A (p.Leu153=) n.393G>A n.598G>A c.264G>A (p.Leu88=) | |
| 17 | g.44260431A>C | CA399794599 | SLC4A1 | c.458T>G (p.Leu153Arg) n.392T>G n.597T>G c.263T>G (p.Leu88Arg) | |
| 17 | g.44260431A>G | CA399794602 | SLC4A1 | c.458T>C (p.Leu153Pro) n.392T>C n.597T>C c.263T>C (p.Leu88Pro) | |
| 17 | g.44260431A>T | CA399794616 | SLC4A1 | c.458T>A (p.Leu153Gln) n.392T>A n.597T>A c.263T>A (p.Leu88Gln) | |
| 17 | g.44260432G>A | CA500288572 | SLC4A1 | c.457C>T (p.Leu153=) n.391C>T n.596C>T c.262C>T (p.Leu88=) | gnomAD v4 |
| 17 | g.44260432G>C | CA290935130 | SLC4A1 | c.457C>G (p.Leu153Val) n.391C>G n.596C>G c.262C>G (p.Leu88Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44260432G= | CA2261310897 | SLC4A1 | c.457C= (p.Leu153=) n.391C= n.596C= c.262C= (p.Leu88=) | |
| 17 | g.44260432G>T | CA8600597 | SLC4A1 | c.457C>A (p.Leu153Met) n.391C>A n.596C>A c.262C>A (p.Leu88Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44260433C>A | CA399794624 | SLC4A1 | c.456G>T (p.Glu152Asp) n.390G>T n.595G>T c.261G>T (p.Glu87Asp) | |
| 17 | g.44260433C>G | CA399794625 | SLC4A1 | c.456G>C (p.Glu152Asp) n.390G>C n.595G>C c.261G>C (p.Glu87Asp) | gnomAD v4 |
| 17 | g.44260433C>T | CA500288573 | SLC4A1 | c.456G>A (p.Glu152=) n.390G>A n.595G>A c.261G>A (p.Glu87=) | |
| 17 | g.44260434T>A | CA399794626 | SLC4A1 | c.455A>T (p.Glu152Val) n.389A>T n.594A>T c.260A>T (p.Glu87Val) | |
| 17 | g.44260434T>C | CA399794628 | SLC4A1 | c.455A>G (p.Glu152Gly) n.389A>G n.594A>G c.260A>G (p.Glu87Gly) | |
| 17 | g.44260434T>G | CA399794631 | SLC4A1 | c.455A>C (p.Glu152Ala) n.389A>C n.594A>C c.260A>C (p.Glu87Ala) | |
| 17 | g.44260435C>A | CA399794633 | SLC4A1 | c.454G>T (p.Glu152Ter) n.388G>T n.593G>T c.259G>T (p.Glu87Ter) | |
| 17 | g.44260435C= | CA2261310898 | SLC4A1 | c.454G= (p.Glu152=) n.388G= n.593G= c.259G= (p.Glu87=) | |
| 17 | g.44260435C>G | CA399794634 | SLC4A1 | c.454G>C (p.Glu152Gln) n.388G>C n.593G>C c.259G>C (p.Glu87Gln) | |
| 17 | g.44260435C>T | CA8600598 | SLC4A1 | c.454G>A (p.Glu152Lys) n.388G>A n.593G>A c.259G>A (p.Glu87Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44260436C>A | CA399794637 | SLC4A1 | c.453G>T (p.Glu151Asp) n.387G>T n.592G>T c.258G>T (p.Glu86Asp) | |
| 17 | g.44260436C>G | CA399794639 | SLC4A1 | c.453G>C (p.Glu151Asp) n.387G>C n.592G>C c.258G>C (p.Glu86Asp) | |
| 17 | g.44260436C>T | CA500288574 | SLC4A1 | c.453G>A (p.Glu151=) n.387G>A n.592G>A c.258G>A (p.Glu86=) | |
| 17 | g.44260437T>A | CA399794643 | SLC4A1 | c.452A>T (p.Glu151Val) n.386A>T n.591A>T c.257A>T (p.Glu86Val) | |
| 17 | g.44260437T>C | CA399794658 | SLC4A1 | c.452A>G (p.Glu151Gly) n.386A>G n.591A>G c.257A>G (p.Glu86Gly) | |
| 17 | g.44260437T>G | CA399794660 | SLC4A1 | c.452A>C (p.Glu151Ala) n.386A>C n.591A>C c.257A>C (p.Glu86Ala) | |
| 17 | g.44260438C>A | CA399794671 | SLC4A1 | c.451G>T (p.Glu151Ter) n.385G>T n.590G>T c.256G>T (p.Glu86Ter) | COSMIC |
| 17 | g.44260438C>G | CA399794668 | SLC4A1 | c.451G>C (p.Glu151Gln) n.385G>C n.590G>C c.256G>C (p.Glu86Gln) | |
| 17 | g.44260438C>T | CA399794665 | SLC4A1 | c.451G>A (p.Glu151Lys) n.385G>A n.590G>A c.256G>A (p.Glu86Lys) | COSMIC |
| 17 | g.44260439T>A | CA500288575 | SLC4A1 | c.450A>T (p.Arg150=) n.384A>T n.589A>T c.255A>T (p.Arg85=) | |
| 17 | g.44260439T>C | CA500288576 | SLC4A1 | c.450A>G (p.Arg150=) n.384A>G n.589A>G c.255A>G (p.Arg85=) | |
| 17 | g.44260439T>G | CA500288577 | SLC4A1 | c.450A>C (p.Arg150=) n.384A>C n.589A>C c.255A>C (p.Arg85=) | |
| 17 | g.44260440C>A | CA8600600 | SLC4A1 | c.449G>T (p.Arg150Leu) n.383G>T n.588G>T c.254G>T (p.Arg85Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44260440C= | CA2261310899 | SLC4A1 | c.449G= (p.Arg150=) n.383G= n.588G= c.254G= (p.Arg85=) | |
| 17 | g.44260440C>G | CA399794672 | SLC4A1 | c.449G>C (p.Arg150Pro) n.383G>C n.588G>C c.254G>C (p.Arg85Pro) | |
| 17 | g.44260440C>T | CA8600599 | SLC4A1 | c.449G>A (p.Arg150Gln) n.383G>A n.588G>A c.254G>A (p.Arg85Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.44260441G>A | CA127385 | SLC4A1 | c.448C>T (p.Arg150Ter) n.382C>T n.587C>T c.253C>T (p.Arg85Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.44260441G>C | CA8600601 | SLC4A1 | c.448C>G (p.Arg150Gly) n.382C>G n.587C>G c.253C>G (p.Arg85Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44260441G= | CA2261310900 | SLC4A1 | c.448C= (p.Arg150=) n.382C= n.587C= c.253C= (p.Arg85=) | |
| 17 | g.44260441G>T | CA8600602 | SLC4A1 | c.448C>A (p.Arg150=) n.382C>A n.587C>A c.253C>A (p.Arg85=) | dbSNP ExAC gnomAD v2 |
| 17 | g.44260442G>A | CA500288578 | SLC4A1 | c.447C>T (p.Asp149=) n.381C>T n.586C>T c.252C>T (p.Asp84=) | |
| 17 | g.44260442G>C | CA399794683 | SLC4A1 | c.447C>G (p.Asp149Glu) n.381C>G n.586C>G c.252C>G (p.Asp84Glu) | |
| 17 | g.44260442G>T | CA399794686 | SLC4A1 | c.447C>A (p.Asp149Glu) n.381C>A n.586C>A c.252C>A (p.Asp84Glu) | |
| 17 | g.44260443T>A | CA399794692 | SLC4A1 | c.446A>T (p.Asp149Val) n.380A>T n.585A>T c.251A>T (p.Asp84Val) | |
| 17 | g.44260443T>C | CA399794695 | SLC4A1 | c.446A>G (p.Asp149Gly) n.380A>G n.585A>G c.251A>G (p.Asp84Gly) | |
| 17 | g.44260443T>G | CA399794697 | SLC4A1 | c.446A>C (p.Asp149Ala) n.380A>C n.585A>C c.251A>C (p.Asp84Ala) | |
| 17 | g.44260444C>A | CA399794700 | SLC4A1 | c.445G>T (p.Asp149Tyr) n.379G>T n.584G>T c.250G>T (p.Asp84Tyr) | |
| 17 | g.44260444C>G | CA399794702 | SLC4A1 | c.445G>C (p.Asp149His) n.379G>C n.584G>C c.250G>C (p.Asp84His) | |
| 17 | g.44260444C>T | CA399794703 | SLC4A1 | c.445G>A (p.Asp149Asn) n.379G>A n.584G>A c.250G>A (p.Asp84Asn) | |
| 17 | g.44260445C>A | CA399794707 | SLC4A1 | c.444G>T (p.Gln148His) n.378G>T n.583G>T c.249G>T (p.Gln83His) | |
| 17 | g.44260445C>G | CA399794709 | SLC4A1 | c.444G>C (p.Gln148His) n.378G>C n.583G>C c.249G>C (p.Gln83His) | |
| 17 | g.44260445C>T | CA500288579 | SLC4A1 | c.444G>A (p.Gln148=) n.378G>A n.583G>A c.249G>A (p.Gln83=) | |
| 17 | g.44260446T>A | CA399794713 | SLC4A1 | c.443A>T (p.Gln148Leu) n.377A>T n.582A>T c.248A>T (p.Gln83Leu) | |
| 17 | g.44260446T>C | CA399794714 | SLC4A1 | c.443A>G (p.Gln148Arg) n.377A>G n.582A>G c.248A>G (p.Gln83Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44260446T>G | CA399794716 | SLC4A1 | c.443A>C (p.Gln148Pro) n.377A>C n.582A>C c.248A>C (p.Gln83Pro) | |
| 17 | g.44260446T= | CA2261310901 | SLC4A1 | c.443A= (p.Gln148=) n.377A= n.582A= c.248A= (p.Gln83=) | |
| 17 | g.44260447G>A | CA399794719 | SLC4A1 | c.442C>T (p.Gln148Ter) n.376C>T n.581C>T c.247C>T (p.Gln83Ter) | |
| 17 | g.44260447G>C | CA399794720 | SLC4A1 | c.442C>G (p.Gln148Glu) n.376C>G n.581C>G c.247C>G (p.Gln83Glu) | |
| 17 | g.44260447G>T | CA399794721 | SLC4A1 | c.442C>A (p.Gln148Lys) n.376C>A n.581C>A c.247C>A (p.Gln83Lys) | |
| 17 | g.44260448A= | CA2261310902 | SLC4A1 | c.441T= (p.Pro147=) n.375T= n.580T= c.246T= (p.Pro82=) | |
| 17 | g.44260448A>C | CA500288580 | SLC4A1 | c.441T>G (p.Pro147=) n.375T>G n.580T>G c.246T>G (p.Pro82=) | |
| 17 | g.44260448A>G | CA500288581 | SLC4A1 | c.441T>C (p.Pro147=) n.375T>C n.580T>C c.246T>C (p.Pro82=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44260448A>T | CA500288582 | SLC4A1 | c.441T>A (p.Pro147=) n.375T>A n.580T>A c.246T>A (p.Pro82=) | |
| 17 | g.44260449G>A | CA399794724 | SLC4A1 | c.440C>T (p.Pro147Leu) n.374C>T n.579C>T c.245C>T (p.Pro82Leu) | |
| 17 | g.44260449G>C | CA399794728 | SLC4A1 | c.440C>G (p.Pro147Arg) n.374C>G n.579C>G c.245C>G (p.Pro82Arg) | |
| 17 | g.44260449G>T | CA399794729 | SLC4A1 | c.440C>A (p.Pro147His) n.374C>A n.579C>A c.245C>A (p.Pro82His) | |
| 17 | g.44260450G>A | CA399794731 | SLC4A1 | c.439C>T (p.Pro147Ser) n.373C>T n.578C>T c.244C>T (p.Pro82Ser) | dbSNP |
| 17 | g.44260450G>C | CA399794735 | SLC4A1 | c.439C>G (p.Pro147Ala) n.373C>G n.578C>G c.244C>G (p.Pro82Ala) | |
| 17 | g.44260450G= | CA2261310903 | SLC4A1 | c.439C= (p.Pro147=) n.373C= n.578C= c.244C= (p.Pro82=) | |
| 17 | g.44260450G>T | CA399794739 | SLC4A1 | c.439C>A (p.Pro147Thr) n.373C>A n.578C>A c.244C>A (p.Pro82Thr) | |
| 17 | g.44260451C>A | CA500288585 | SLC4A1 | c.438G>T (p.Arg146=) n.372G>T n.577G>T c.243G>T (p.Arg81=) | |
| 17 | g.44260451C>G | CA500288584 | SLC4A1 | c.438G>C (p.Arg146=) n.372G>C n.577G>C c.243G>C (p.Arg81=) | |
| 17 | g.44260451C>T | CA500288583 | SLC4A1 | c.438G>A (p.Arg146=) n.372G>A n.577G>A c.243G>A (p.Arg81=) | |
| 17 | g.44260452C>A | CA399794744 | SLC4A1 | c.437G>T (p.Arg146Leu) n.371G>T n.576G>T c.242G>T (p.Arg81Leu) | |
| 17 | g.44260452C= | CA2261310904 | SLC4A1 | c.437G= (p.Arg146=) n.371G= n.576G= c.242G= (p.Arg81=) | |
| 17 | g.44260452C>G | CA399794751 | SLC4A1 | c.437G>C (p.Arg146Pro) n.371G>C n.576G>C c.242G>C (p.Arg81Pro) | |
| 17 | g.44260452C>T | CA8600603 | SLC4A1 | c.437G>A (p.Arg146Gln) n.371G>A n.576G>A c.242G>A (p.Arg81Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44260453G>A | CA8600604 | SLC4A1 | c.436C>T (p.Arg146Trp) n.370C>T n.575C>T c.241C>T (p.Arg81Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44260453G>C | CA399794753 | SLC4A1 | c.436C>G (p.Arg146Gly) n.370C>G n.575C>G c.241C>G (p.Arg81Gly) | gnomAD v4 |
| 17 | g.44260453G= | CA2261310905 | SLC4A1 | c.436C= (p.Arg146=) n.370C= n.575C= c.241C= (p.Arg81=) | |
| 17 | g.44260453G>T | CA500288586 | SLC4A1 | c.436C>A (p.Arg146=) n.370C>A n.575C>A c.241C>A (p.Arg81=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44260454G>A | CA500288587 | SLC4A1 | c.435C>T (p.Ile145=) n.369C>T n.574C>T c.240C>T (p.Ile80=) | |
| 17 | g.44260454G>C | CA399794756 | SLC4A1 | c.435C>G (p.Ile145Met) n.369C>G n.574C>G c.240C>G (p.Ile80Met) | |
| 17 | g.44260454G>T | CA500288588 | SLC4A1 | c.435C>A (p.Ile145=) n.369C>A n.574C>A c.240C>A (p.Ile80=) | gnomAD v4 |
| 17 | g.44260455A= | CA2261310906 | SLC4A1 | c.434T= (p.Ile145=) n.368T= n.573T= c.239T= (p.Ile80=) | |
| 17 | g.44260455A>C | CA399794763 | SLC4A1 | c.434T>G (p.Ile145Ser) n.368T>G n.573T>G c.239T>G (p.Ile80Ser) | gnomAD v4 |
| 17 | g.44260455A>G | CA8600605 | SLC4A1 | c.434T>C (p.Ile145Thr) n.368T>C n.573T>C c.239T>C (p.Ile80Thr) | dbSNP ExAC gnomAD v2 |
| 17 | g.44260455A>T | CA399794769 | SLC4A1 | c.434T>A (p.Ile145Asn) n.368T>A n.573T>A c.239T>A (p.Ile80Asn) | |
| 17 | g.44260456T>A | CA399794778 | SLC4A1 | c.433A>T (p.Ile145Phe) n.367A>T n.572A>T c.238A>T (p.Ile80Phe) | |
| 17 | g.44260456T>C | CA399794780 | SLC4A1 | c.433A>G (p.Ile145Val) n.367A>G n.572A>G c.238A>G (p.Ile80Val) | |
| 17 | g.44260456T>G | CA399794782 | SLC4A1 | c.433A>C (p.Ile145Leu) n.367A>C n.572A>C c.238A>C (p.Ile80Leu) | |
| 17 | g.44260457C>A | CA399794783 | SLC4A1 | c.432G>T (p.Gln144His) n.366G>T n.571G>T c.237G>T (p.Gln79His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44260457C= | CA2261310907 | SLC4A1 | c.432G= (p.Gln144=) n.366G= n.571G= c.237G= (p.Gln79=) | |
| 17 | g.44260457C>G | CA399794784 | SLC4A1 | c.432G>C (p.Gln144His) n.366G>C n.571G>C c.237G>C (p.Gln79His) | |
| 17 | g.44260457C>T | CA500288589 | SLC4A1 | c.432G>A (p.Gln144=) n.366G>A n.571G>A c.237G>A (p.Gln79=) | gnomAD v4 COSMIC |
| 17 | g.44260458T>A | CA399794785 | SLC4A1 | c.431A>T (p.Gln144Leu) n.365A>T n.570A>T c.236A>T (p.Gln79Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44260458T>C | CA8600606 | SLC4A1 | c.431A>G (p.Gln144Arg) n.365A>G n.570A>G c.236A>G (p.Gln79Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44260458T>G | CA399794788 | SLC4A1 | c.431A>C (p.Gln144Pro) n.365A>C n.570A>C c.236A>C (p.Gln79Pro) | |
| 17 | g.44260458T= | CA2261310908 | SLC4A1 | c.431A= (p.Gln144=) n.365A= n.570A= c.236A= (p.Gln79=) | |
| 17 | g.44260459G>A | CA399794791 | SLC4A1 | c.430C>T (p.Gln144Ter) n.364C>T n.569C>T c.235C>T (p.Gln79Ter) | |
| 17 | g.44260459G>C | CA399794794 | SLC4A1 | c.430C>G (p.Gln144Glu) n.364C>G n.569C>G c.235C>G (p.Gln79Glu) | |
| 17 | g.44260459G>T | CA399794797 | SLC4A1 | c.430C>A (p.Gln144Lys) n.364C>A n.569C>A c.235C>A (p.Gln79Lys) | |
| 17 | g.44260459_44260460delinsTT | CA645589831 | SLC4A1 | c.429_430delinsAA (p.Asp143_Gln144delinsGluLys) n.363_364delinsAA n.568_569delinsAA c.234_235delinsAA (p.Asp78_Gln79delinsGluLys) | COSMIC |
| 17 | g.44260460G>A | CA500288590 | SLC4A1 | c.429C>T (p.Asp143=) n.363C>T n.568C>T c.234C>T (p.Asp78=) | |
| 17 | g.44260460G>C | CA399794805 | SLC4A1 | c.429C>G (p.Asp143Glu) n.363C>G n.568C>G c.234C>G (p.Asp78Glu) | |
| 17 | g.44260460G>T | CA399794801 | SLC4A1 | c.429C>A (p.Asp143Glu) n.363C>A n.568C>A c.234C>A (p.Asp78Glu) | |
| 17 | g.44260461T>A | CA399794810 | SLC4A1 | c.428A>T (p.Asp143Val) n.362A>T n.567A>T c.233A>T (p.Asp78Val) | |
| 17 | g.44260461T>C | CA399794813 | SLC4A1 | c.428A>G (p.Asp143Gly) n.362A>G n.567A>G c.233A>G (p.Asp78Gly) | |
| 17 | g.44260461T>G | CA8600607 | SLC4A1 | c.428A>C (p.Asp143Ala) n.362A>C n.567A>C c.233A>C (p.Asp78Ala) | dbSNP ExAC gnomAD v2 |
| 17 | g.44260461T= | CA2261310909 | SLC4A1 | c.428A= (p.Asp143=) n.362A= n.567A= c.233A= (p.Asp78=) | |
| 17 | g.44260462C>A | CA399794820 | SLC4A1 | c.427G>T (p.Asp143Tyr) n.361G>T n.566G>T c.232G>T (p.Asp78Tyr) | dbSNP gnomAD v4 |
| 17 | g.44260462C= | CA2261310910 | SLC4A1 | c.427G= (p.Asp143=) n.361G= n.566G= c.232G= (p.Asp78=) | |
| 17 | g.44260462C>G | CA8600608 | SLC4A1 | c.427G>C (p.Asp143His) n.361G>C n.566G>C c.232G>C (p.Asp78His) | dbSNP ExAC gnomAD v2 |
| 17 | g.44260462C>T | CA399794832 | SLC4A1 | c.427G>A (p.Asp143Asn) n.361G>A n.566G>A c.232G>A (p.Asp78Asn) | gnomAD v4 |
| 17 | g.44260463T>A | CA399794846 | SLC4A1 | c.426A>T (p.Glu142Asp) n.360A>T n.565A>T c.231A>T (p.Glu77Asp) | |
| 17 | g.44260463T>C | CA500288591 | SLC4A1 | c.426A>G (p.Glu142=) n.360A>G n.565A>G c.231A>G (p.Glu77=) | dbSNP gnomAD v4 |
| 17 | g.44260463T>G | CA399794851 | SLC4A1 | c.426A>C (p.Glu142Asp) n.360A>C n.565A>C c.231A>C (p.Glu77Asp) | |
| 17 | g.44260463T= | CA2261310911 | SLC4A1 | c.426A= (p.Glu142=) n.360A= n.565A= c.231A= (p.Glu77=) | |
| 17 | g.44260464T>A | CA399794853 | SLC4A1 | c.425A>T (p.Glu142Val) n.359A>T n.564A>T c.230A>T (p.Glu77Val) | |
| 17 | g.44260464T>C | CA399794856 | SLC4A1 | c.425A>G (p.Glu142Gly) n.359A>G n.564A>G c.230A>G (p.Glu77Gly) | |
| 17 | g.44260464T>G | CA399794859 | SLC4A1 | c.425A>C (p.Glu142Ala) n.359A>C n.564A>C c.230A>C (p.Glu77Ala) | |
| 17 | g.44260465C>A | CA399794861 | SLC4A1 | c.424G>T (p.Glu142Ter) n.358G>T n.563G>T c.229G>T (p.Glu77Ter) | |
| 17 | g.44260465C>G | CA399794863 | SLC4A1 | c.424G>C (p.Glu142Gln) n.358G>C n.563G>C c.229G>C (p.Glu77Gln) | |
| 17 | g.44260465C>T | CA399794860 | SLC4A1 | c.424G>A (p.Glu142Lys) n.358G>A n.563G>A c.229G>A (p.Glu77Lys) | |
| 17 | g.44260466A>C | CA399794865 | SLC4A1 | c.423T>G (p.Phe141Leu) n.357T>G n.562T>G c.228T>G (p.Phe76Leu) | |
| 17 | g.44260466A>G | CA500288592 | SLC4A1 | c.423T>C (p.Phe141=) n.357T>C n.562T>C c.228T>C (p.Phe76=) | |
| 17 | g.44260466A>T | CA399794868 | SLC4A1 | c.423T>A (p.Phe141Leu) n.357T>A n.562T>A c.228T>A (p.Phe76Leu) | |
| 17 | g.44260467A>C | CA399794872 | SLC4A1 | c.422T>G (p.Phe141Cys) n.356T>G n.561T>G c.227T>G (p.Phe76Cys) | |
| 17 | g.44260467A>G | CA399794875 | SLC4A1 | c.422T>C (p.Phe141Ser) n.356T>C n.561T>C c.227T>C (p.Phe76Ser) | gnomAD v4 |
| 17 | g.44260467A>T | CA399794878 | SLC4A1 | c.422T>A (p.Phe141Tyr) n.356T>A n.561T>A c.227T>A (p.Phe76Tyr) | |
| 17 | g.44260468A= | CA2261310912 | SLC4A1 | c.421T= (p.Phe141=) n.355T= n.560T= c.226T= (p.Phe76=) | |
| 17 | g.44260468A>C | CA399794886 | SLC4A1 | c.421T>G (p.Phe141Val) n.355T>G n.560T>G c.226T>G (p.Phe76Val) | |
| 17 | g.44260468A>G | CA399794889 | SLC4A1 | c.421T>C (p.Phe141Leu) n.355T>C n.560T>C c.226T>C (p.Phe76Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44260468A>T | CA399794893 | SLC4A1 | c.421T>A (p.Phe141Ile) n.355T>A n.560T>A c.226T>A (p.Phe76Ile) | |
| 17 | g.44260469G>A | CA500288593 | SLC4A1 | c.420C>T (p.Ile140=) n.354C>T n.559C>T c.225C>T (p.Ile75=) | gnomAD v4 COSMIC |
| 17 | g.44260469G>C | CA399794895 | SLC4A1 | c.420C>G (p.Ile140Met) n.354C>G n.559C>G c.225C>G (p.Ile75Met) | |
| 17 | g.44260469G>T | CA500288594 | SLC4A1 | c.420C>A (p.Ile140=) n.354C>A n.559C>A c.225C>A (p.Ile75=) | |
| 17 | g.44260470A= | CA2261310913 | SLC4A1 | c.419T= (p.Ile140=) n.353T= n.558T= c.224T= (p.Ile75=) | |
| 17 | g.44260470A>C | CA399794898 | SLC4A1 | c.419T>G (p.Ile140Ser) n.353T>G n.558T>G c.224T>G (p.Ile75Ser) | |
| 17 | g.44260470A>G | CA399794901 | SLC4A1 | c.419T>C (p.Ile140Thr) n.353T>C n.558T>C c.224T>C (p.Ile75Thr) | dbSNP |
| 17 | g.44260470A>T | CA399794905 | SLC4A1 | c.419T>A (p.Ile140Asn) n.353T>A n.558T>A c.224T>A (p.Ile75Asn) | |
| 17 | g.44260471T>A | CA399794913 | SLC4A1 | c.418A>T (p.Ile140Phe) n.352A>T n.557A>T c.223A>T (p.Ile75Phe) | |
| 17 | g.44260471T>C | CA399794910 | SLC4A1 | c.418A>G (p.Ile140Val) n.352A>G n.557A>G c.223A>G (p.Ile75Val) | gnomAD v4 |
| 17 | g.44260471T>G | CA399794912 | SLC4A1 | c.418A>C (p.Ile140Leu) n.352A>C n.557A>C c.223A>C (p.Ile75Leu) | |
| 17 | g.44260472A>C | CA399794917 | SLC4A1 | c.417T>G (p.Phe139Leu) n.351T>G n.556T>G c.222T>G (p.Phe74Leu) | ClinVar |
| 17 | g.44260472A>G | CA500288595 | SLC4A1 | c.417T>C (p.Phe139=) n.351T>C n.556T>C c.222T>C (p.Phe74=) | gnomAD v4 |
| 17 | g.44260472A>T | CA399794921 | SLC4A1 | c.417T>A (p.Phe139Leu) n.351T>A n.556T>A c.222T>A (p.Phe74Leu) | |
| 17 | g.44260473A>C | CA399794925 | SLC4A1 | c.416T>G (p.Phe139Cys) n.350T>G n.555T>G c.221T>G (p.Phe74Cys) | |
| 17 | g.44260473A>G | CA399794927 | SLC4A1 | c.416T>C (p.Phe139Ser) n.350T>C n.555T>C c.221T>C (p.Phe74Ser) | |
| 17 | g.44260473A>T | CA399794933 | SLC4A1 | c.416T>A (p.Phe139Tyr) n.350T>A n.555T>A c.221T>A (p.Phe74Tyr) | gnomAD v4 |
| 17 | g.44260474A>C | CA399794939 | SLC4A1 | c.415T>G (p.Phe139Val) n.349T>G n.554T>G c.220T>G (p.Phe74Val) | |
| 17 | g.44260474A>G | CA399794951 | SLC4A1 | c.415T>C (p.Phe139Leu) n.349T>C n.554T>C c.220T>C (p.Phe74Leu) | |
| 17 | g.44260474A>T | CA399794954 | SLC4A1 | c.415T>A (p.Phe139Ile) n.349T>A n.554T>A c.220T>A (p.Phe74Ile) | |
| 17 | g.44260475C>A | CA399794959 | SLC4A1 | c.414G>T (p.Arg138Ser) n.348G>T n.553G>T c.219G>T (p.Arg73Ser) | |
| 17 | g.44260475C>G | CA399794965 | SLC4A1 | c.414G>C (p.Arg138Ser) n.348G>C n.553G>C c.219G>C (p.Arg73Ser) | |
| 17 | g.44260475C>T | CA500288596 | SLC4A1 | c.414G>A (p.Arg138=) n.348G>A n.553G>A c.219G>A (p.Arg73=) | gnomAD v4 |
| 17 | g.44260476C>A | CA399794968 | SLC4A1 | c.413G>T (p.Arg138Met) n.347G>T n.552G>T c.218G>T (p.Arg73Met) | |
| 17 | g.44260476C>G | CA399794970 | SLC4A1 | c.413G>C (p.Arg138Thr) n.347G>C n.552G>C c.218G>C (p.Arg73Thr) | |
| 17 | g.44260476C>T | CA399794973 | SLC4A1 | c.413G>A (p.Arg138Lys) n.347G>A n.552G>A c.218G>A (p.Arg73Lys) | |
| 17 | g.44260477T>A | CA399794993 | SLC4A1 | c.412A>T (p.Arg138Trp) n.346A>T n.551A>T c.217A>T (p.Arg73Trp) | |
| 17 | g.44260477T>C | CA290935174 | SLC4A1 | c.412A>G (p.Arg138Gly) n.346A>G n.551A>G c.217A>G (p.Arg73Gly) | dbSNP gnomAD v4 |
| 17 | g.44260477T>G | CA500288597 | SLC4A1 | c.412A>C (p.Arg138=) n.346A>C n.551A>C c.217A>C (p.Arg73=) | |
| 17 | g.44260477T= | CA2261310914 | SLC4A1 | c.412A= (p.Arg138=) n.346A= n.551A= c.217A= (p.Arg73=) | |
| 17 | g.44260478G>A | CA500288598 | SLC4A1 | c.411C>T (p.Asp137=) n.345C>T n.550C>T c.216C>T (p.Asp72=) | gnomAD v4 |
| 17 | g.44260478G>C | CA399794997 | SLC4A1 | c.411C>G (p.Asp137Glu) n.345C>G n.550C>G c.216C>G (p.Asp72Glu) | dbSNP gnomAD v4 |
| 17 | g.44260478G= | CA2261310915 | SLC4A1 | c.411C= (p.Asp137=) n.345C= n.550C= c.216C= (p.Asp72=) | |
| 17 | g.44260478G>T | CA399794998 | SLC4A1 | c.411C>A (p.Asp137Glu) n.345C>A n.550C>A c.216C>A (p.Asp72Glu) | |
| 17 | g.44260479T>A | CA399795000 | SLC4A1 | c.410A>T (p.Asp137Val) n.344A>T n.549A>T c.215A>T (p.Asp72Val) | |
| 17 | g.44260479T>C | CA8600609 | SLC4A1 | c.410A>G (p.Asp137Gly) n.344A>G n.549A>G c.215A>G (p.Asp72Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44260479T>G | CA399795006 | SLC4A1 | c.410A>C (p.Asp137Ala) n.344A>C n.549A>C c.215A>C (p.Asp72Ala) | |
| 17 | g.44260479T= | CA2261310916 | SLC4A1 | c.410A= (p.Asp137=) n.344A= n.549A= c.215A= (p.Asp72=) | |
| 17 | g.44260480C>A | CA399795009 | SLC4A1 | c.409G>T (p.Asp137Tyr) n.343G>T n.548G>T c.214G>T (p.Asp72Tyr) | |
| 17 | g.44260480C= | CA2261310917 | SLC4A1 | c.409G= (p.Asp137=) n.343G= n.548G= c.214G= (p.Asp72=) | |
| 17 | g.44260480C>G | CA399795011 | SLC4A1 | c.409G>C (p.Asp137His) n.343G>C n.548G>C c.214G>C (p.Asp72His) | |
| 17 | g.44260480C>T | CA399795014 | SLC4A1 | c.409G>A (p.Asp137Asn) n.343G>A n.548G>A c.214G>A (p.Asp72Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44260481T>A | CA500288599 | SLC4A1 | c.408A>T (p.Leu136=) n.342A>T n.547A>T c.213A>T (p.Leu71=) | |
| 17 | g.44260481T>C | CA500288600 | SLC4A1 | c.408A>G (p.Leu136=) n.342A>G n.547A>G c.213A>G (p.Leu71=) | |
| 17 | g.44260481T>G | CA500288601 | SLC4A1 | c.408A>C (p.Leu136=) n.342A>C n.547A>C c.213A>C (p.Leu71=) | |
| 17 | g.44260481_44260482del | CA2739267575 | SLC4A1 | c.407_408del (p.Leu136ArgfsTer6) n.341_342del n.546_547del c.212_213del (p.Leu71ArgfsTer6) | ClinVar |
| 17 | g.44260482A>C | CA399795018 | SLC4A1 | c.407T>G (p.Leu136Arg) n.341T>G n.546T>G c.212T>G (p.Leu71Arg) | |
| 17 | g.44260482A>G | CA399795021 | SLC4A1 | c.407T>C (p.Leu136Pro) n.341T>C n.546T>C c.212T>C (p.Leu71Pro) | |
| 17 | g.44260482A>T | CA399795024 | SLC4A1 | c.407T>A (p.Leu136Gln) n.341T>A n.546T>A c.212T>A (p.Leu71Gln) | |
| 17 | g.44260483G>A | CA500288602 | SLC4A1 | c.406C>T (p.Leu136=) n.340C>T n.545C>T c.211C>T (p.Leu71=) | |
| 17 | g.44260483G>C | CA399795030 | SLC4A1 | c.406C>G (p.Leu136Val) n.340C>G n.545C>G c.211C>G (p.Leu71Val) | |
| 17 | g.44260483G>T | CA399795033 | SLC4A1 | c.406C>A (p.Leu136Ile) n.340C>A n.545C>A c.211C>A (p.Leu71Ile) | |
| 17 | g.44260484C>A | CA500288603 | SLC4A1 | c.405G>T (p.Leu135=) n.339G>T n.544G>T c.210G>T (p.Leu70=) | |
| 17 | g.44260484C>G | CA500288605 | SLC4A1 | c.405G>C (p.Leu135=) n.339G>C n.544G>C c.210G>C (p.Leu70=) | |
| 17 | g.44260484C>T | CA500288604 | SLC4A1 | c.405G>A (p.Leu135=) n.339G>A n.544G>A c.210G>A (p.Leu70=) | |
| 17 | g.44260485A>C | CA399795044 | SLC4A1 | c.404T>G (p.Leu135Arg) n.338T>G n.543T>G c.209T>G (p.Leu70Arg) | |
| 17 | g.44260485A>G | CA399795041 | SLC4A1 | c.404T>C (p.Leu135Pro) n.338T>C n.543T>C c.209T>C (p.Leu70Pro) | |
| 17 | g.44260485A>T | CA399795037 | SLC4A1 | c.404T>A (p.Leu135Gln) n.338T>A n.543T>A c.209T>A (p.Leu70Gln) | |
| 17 | g.44260486G>A | CA500288606 | SLC4A1 | c.403C>T (p.Leu135=) n.337C>T n.542C>T c.208C>T (p.Leu70=) | ClinVar |
| 17 | g.44260486G>C | CA8600610 | SLC4A1 | c.403C>G (p.Leu135Val) n.337C>G n.542C>G c.208C>G (p.Leu70Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44260486G= | CA2261310918 | SLC4A1 | c.403C= (p.Leu135=) n.337C= n.542C= c.208C= (p.Leu70=) | |
| 17 | g.44260486G>T | CA399795048 | SLC4A1 | c.403C>A (p.Leu135Met) n.337C>A n.542C>A c.208C>A (p.Leu70Met) | |
| 17 | g.44260487T>A | CA399795058 | SLC4A1 | c.402A>T (p.Gln134His) n.336A>T n.541A>T c.207A>T (p.Gln69His) | |
| 17 | g.44260487T>C | CA500288607 | SLC4A1 | c.402A>G (p.Gln134=) n.336A>G n.541A>G c.207A>G (p.Gln69=) | gnomAD v4 |
| 17 | g.44260487T>G | CA399795061 | SLC4A1 | c.402A>C (p.Gln134His) n.336A>C n.541A>C c.207A>C (p.Gln69His) | |
| 17 | g.44260488T>A | CA399795062 | SLC4A1 | c.401A>T (p.Gln134Leu) n.335A>T n.540A>T c.206A>T (p.Gln69Leu) | |
| 17 | g.44260488T>C | CA399795064 | SLC4A1 | c.401A>G (p.Gln134Arg) n.335A>G n.540A>G c.206A>G (p.Gln69Arg) | |
| 17 | g.44260488T>G | CA399795066 | SLC4A1 | c.401A>C (p.Gln134Pro) n.335A>C n.540A>C c.206A>C (p.Gln69Pro) | |
| 17 | g.44260489G>A | CA399795070 | SLC4A1 | c.400C>T (p.Gln134Ter) n.334C>T n.539C>T c.205C>T (p.Gln69Ter) | |
| 17 | g.44260489G>C | CA399795072 | SLC4A1 | c.400C>G (p.Gln134Glu) n.334C>G n.539C>G c.205C>G (p.Gln69Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44260489G= | CA2261310919 | SLC4A1 | c.400C= (p.Gln134=) n.334C= n.539C= c.205C= (p.Gln69=) | |
| 17 | g.44260489G>T | CA8600611 | SLC4A1 | c.400C>A (p.Gln134Lys) n.334C>A n.539C>A c.205C>A (p.Gln69Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44260490G>A | CA500288608 | SLC4A1 | c.399C>T (p.Asn133=) n.333C>T n.538C>T c.204C>T (p.Asn68=) | |
| 17 | g.44260490G>C | CA399795077 | SLC4A1 | c.399C>G (p.Asn133Lys) n.333C>G n.538C>G c.204C>G (p.Asn68Lys) | gnomAD v4 |
| 17 | g.44260490G>T | CA399795080 | SLC4A1 | c.399C>A (p.Asn133Lys) n.333C>A n.538C>A c.204C>A (p.Asn68Lys) | gnomAD v4 |
| 17 | g.44260491T>A | CA399795082 | SLC4A1 | c.398A>T (p.Asn133Ile) n.332A>T n.537A>T c.203A>T (p.Asn68Ile) | |
| 17 | g.44260491T>C | CA399795083 | SLC4A1 | c.398A>G (p.Asn133Ser) n.332A>G n.537A>G c.203A>G (p.Asn68Ser) | |
| 17 | g.44260491T>G | CA399795081 | SLC4A1 | c.398A>C (p.Asn133Thr) n.332A>C n.537A>C c.203A>C (p.Asn68Thr) | |
| 17 | g.44260492T>A | CA399795086 | SLC4A1 | c.397A>T (p.Asn133Tyr) n.331A>T n.536A>T c.202A>T (p.Asn68Tyr) | |
| 17 | g.44260492T>C | CA399795089 | SLC4A1 | c.397A>G (p.Asn133Asp) n.331A>G n.536A>G c.202A>G (p.Asn68Asp) | dbSNP |
| 17 | g.44260492T>G | CA399795093 | SLC4A1 | c.397A>C (p.Asn133His) n.331A>C n.536A>C c.202A>C (p.Asn68His) | gnomAD v4 |
| 17 | g.44260492T= | CA2261310920 | SLC4A1 | c.397A= (p.Asn133=) n.331A= n.536A= c.202A= (p.Asn68=) | |
| 17 | g.44260493G>A | CA500288610 | SLC4A1 | c.396C>T (p.Ala132=) n.330C>T n.535C>T c.201C>T (p.Ala67=) | |
| 17 | g.44260493G>C | CA8600612 | SLC4A1 | c.396C>G (p.Ala132=) n.330C>G n.535C>G c.201C>G (p.Ala67=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44260493G= | CA2261310921 | SLC4A1 | c.396C= (p.Ala132=) n.330C= n.535C= c.201C= (p.Ala67=) | |
| 17 | g.44260493G>T | CA500288609 | SLC4A1 | c.396C>A (p.Ala132=) n.330C>A n.535C>A c.201C>A (p.Ala67=) | |
| 17 | g.44260494G>A | CA399795114 | SLC4A1 | c.395C>T (p.Ala132Val) n.329C>T n.534C>T c.200C>T (p.Ala67Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44260494G>C | CA399795118 | SLC4A1 | c.395C>G (p.Ala132Gly) n.329C>G n.534C>G c.200C>G (p.Ala67Gly) | |
| 17 | g.44260494G= | CA2261310922 | SLC4A1 | c.395C= (p.Ala132=) n.329C= n.534C= c.200C= (p.Ala67=) | |
| 17 | g.44260494G>T | CA399795120 | SLC4A1 | c.395C>A (p.Ala132Asp) n.329C>A n.534C>A c.200C>A (p.Ala67Asp) | |
| 17 | g.44260495C>A | CA399795126 | SLC4A1 | c.394G>T (p.Ala132Ser) n.328G>T n.533G>T c.199G>T (p.Ala67Ser) | |
| 17 | g.44260495C= | CA2261310923 | SLC4A1 | c.394G= (p.Ala132=) n.328G= n.533G= c.199G= (p.Ala67=) | |
| 17 | g.44260495C>G | CA399795134 | SLC4A1 | c.394G>C (p.Ala132Pro) n.328G>C n.533G>C c.199G>C (p.Ala67Pro) | |
| 17 | g.44260495C>T | CA399795129 | SLC4A1 | c.394G>A (p.Ala132Thr) n.328G>A n.533G>A c.199G>A (p.Ala67Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44260496C>A | CA8600613 | SLC4A1 | c.393G>T (p.Val131=) n.327G>T n.532G>T c.198G>T (p.Val66=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44260496C= | CA2261310924 | SLC4A1 | c.393G= (p.Val131=) n.327G= n.532G= c.198G= (p.Val66=) | |
| 17 | g.44260496C>G | CA500288612 | SLC4A1 | c.393G>C (p.Val131=) n.327G>C n.532G>C c.198G>C (p.Val66=) | |
| 17 | g.44260496C>T | CA500288613 | SLC4A1 | c.393G>A (p.Val131=) n.327G>A n.532G>A c.198G>A (p.Val66=) | |
| 17 | g.44260497A>C | CA399795140 | SLC4A1 | c.392T>G (p.Val131Gly) n.326T>G n.531T>G c.197T>G (p.Val66Gly) | |
| 17 | g.44260497A>G | CA399795145 | SLC4A1 | c.392T>C (p.Val131Ala) n.326T>C n.531T>C c.197T>C (p.Val66Ala) | |
| 17 | g.44260497A>T | CA399795149 | SLC4A1 | c.392T>A (p.Val131Glu) n.326T>A n.531T>A c.197T>A (p.Val66Glu) | |
| 17 | g.44260498C>A | CA399795154 | SLC4A1 | c.391G>T (p.Val131Leu) n.325G>T n.530G>T c.196G>T (p.Val66Leu) | |
| 17 | g.44260498C= | CA2261310925 | SLC4A1 | c.391G= (p.Val131=) n.325G= n.530G= c.196G= (p.Val66=) | |
| 17 | g.44260498C>G | CA8600614 | SLC4A1 | c.391G>C (p.Val131Leu) n.325G>C n.530G>C c.196G>C (p.Val66Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44260498C>T | CA399795159 | SLC4A1 | c.391G>A (p.Val131Met) n.325G>A n.530G>A c.196G>A (p.Val66Met) | |
| 17 | g.44260499T>A | CA500288614 | SLC4A1 | c.390A>T (p.Gly130=) n.324A>T n.529A>T c.195A>T (p.Gly65=) | |
| 17 | g.44260499T>C | CA500288616 | SLC4A1 | c.390A>G (p.Gly130=) n.324A>G n.529A>G c.195A>G (p.Gly65=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44260499T>G | CA500288615 | SLC4A1 | c.390A>C (p.Gly130=) n.324A>C n.529A>C c.195A>C (p.Gly65=) | |
| 17 | g.44260499T= | CA2261310926 | SLC4A1 | c.390A= (p.Gly130=) n.324A= n.529A= c.195A= (p.Gly65=) | |
| 17 | g.44260500C>A | CA399795166 | SLC4A1 | c.389G>T (p.Gly130Val) n.323G>T n.528G>T c.194G>T (p.Gly65Val) | |
| 17 | g.44260500C= | CA2261310927 | SLC4A1 | c.389G= (p.Gly130=) n.323G= n.528G= c.194G= (p.Gly65=) | |
| 17 | g.44260500C>G | CA399795169 | SLC4A1 | c.389G>C (p.Gly130Ala) n.323G>C n.528G>C c.194G>C (p.Gly65Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44260500C>T | CA399795174 | SLC4A1 | c.389G>A (p.Gly130Glu) n.323G>A n.528G>A c.194G>A (p.Gly65Glu) | |
| 17 | g.44260501C>A | CA399795178 | SLC4A1 | c.388G>T (p.Gly130Ter) n.322G>T n.527G>T c.193G>T (p.Gly65Ter) | |
| 17 | g.44260501C= | CA2261310928 | SLC4A1 | c.388G= (p.Gly130=) n.322G= n.527G= c.193G= (p.Gly65=) | |
| 17 | g.44260501C>G | CA399795182 | SLC4A1 | c.388G>C (p.Gly130Arg) n.322G>C n.527G>C c.193G>C (p.Gly65Arg) | |
| 17 | g.44260501C>T | CA127394 | SLC4A1 | c.388G>A (p.Gly130Arg) n.322G>A n.527G>A c.193G>A (p.Gly65Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44260502A>C | CA500288617 | SLC4A1 | c.387T>G (p.Ala129=) n.321T>G n.526T>G c.192T>G (p.Ala64=) | |
| 17 | g.44260502A>G | CA500288618 | SLC4A1 | c.387T>C (p.Ala129=) n.321T>C n.526T>C c.192T>C (p.Ala64=) | |
| 17 | g.44260502A>T | CA500288619 | SLC4A1 | c.387T>A (p.Ala129=) n.321T>A n.526T>A c.192T>A (p.Ala64=) | |
| 17 | g.44260503G>A | CA399795194 | SLC4A1 | c.386C>T (p.Ala129Val) n.320C>T n.525C>T c.191C>T (p.Ala64Val) | |
| 17 | g.44260503G>C | CA399795198 | SLC4A1 | c.386C>G (p.Ala129Gly) n.320C>G n.525C>G c.191C>G (p.Ala64Gly) | |
| 17 | g.44260503G>T | CA399795201 | SLC4A1 | c.386C>A (p.Ala129Asp) n.320C>A n.525C>A c.191C>A (p.Ala64Asp) | |
| 17 | g.44260504C>A | CA399795206 | SLC4A1 | c.385G>T (p.Ala129Ser) n.319G>T n.524G>T c.190G>T (p.Ala64Ser) | |
| 17 | g.44260504C>G | CA399795212 | SLC4A1 | c.385G>C (p.Ala129Pro) n.319G>C n.524G>C c.190G>C (p.Ala64Pro) | |
| 17 | g.44260504C>T | CA399795213 | SLC4A1 | c.385G>A (p.Ala129Thr) n.319G>A n.524G>A c.190G>A (p.Ala64Thr) | |
| 17 | g.44260505C>A | CA500288620 | SLC4A1 | c.384G>T (p.Leu128=) n.318G>T n.523G>T c.189G>T (p.Leu63=) | COSMIC |
| 17 | g.44260505C= | CA2261310929 | SLC4A1 | c.384G= (p.Leu128=) n.318G= n.523G= c.189G= (p.Leu63=) | |
| 17 | g.44260505C>G | CA500288622 | SLC4A1 | c.384G>C (p.Leu128=) n.318G>C n.523G>C c.189G>C (p.Leu63=) | |
| 17 | g.44260505C>T | CA500288621 | SLC4A1 | c.384G>A (p.Leu128=) n.318G>A n.523G>A c.189G>A (p.Leu63=) | dbSNP |
| 17 | g.44260506A>C | CA399795220 | SLC4A1 | c.383T>G (p.Leu128Arg) n.317T>G n.522T>G c.188T>G (p.Leu63Arg) | gnomAD v4 |
| 17 | g.44260506A>G | CA399795235 | SLC4A1 | c.383T>C (p.Leu128Pro) n.317T>C n.522T>C c.188T>C (p.Leu63Pro) | gnomAD v4 |
| 17 | g.44260506A>T | CA399795217 | SLC4A1 | c.383T>A (p.Leu128Gln) n.317T>A n.522T>A c.188T>A (p.Leu63Gln) | |
| 17 | g.44260507G>A | CA500288623 | SLC4A1 | c.382C>T (p.Leu128=) n.316C>T n.521C>T c.187C>T (p.Leu63=) | |
| 17 | g.44260507G>C | CA399795241 | SLC4A1 | c.382C>G (p.Leu128Val) n.316C>G n.521C>G c.187C>G (p.Leu63Val) | |
| 17 | g.44260507G>T | CA399795249 | SLC4A1 | c.382C>A (p.Leu128Met) n.316C>A n.521C>A c.187C>A (p.Leu63Met) | |
| 17 | g.44260508G>A | CA8600615 | SLC4A1 | c.381C>T (p.Ser127=) n.315C>T n.520C>T c.186C>T (p.Ser62=) | dbSNP ExAC gnomAD v2 |
| 17 | g.44260508G>C | CA500288624 | SLC4A1 | c.381C>G (p.Ser127=) n.315C>G n.520C>G c.186C>G (p.Ser62=) | |
| 17 | g.44260508G= | CA2261310930 | SLC4A1 | c.381C= (p.Ser127=) n.315C= n.520C= c.186C= (p.Ser62=) | |
| 17 | g.44260508G>T | CA500288625 | SLC4A1 | c.381C>A (p.Ser127=) n.315C>A n.520C>A c.186C>A (p.Ser62=) | |
| 17 | g.44260509G>A | CA399795256 | SLC4A1 | c.380C>T (p.Ser127Phe) n.314C>T n.519C>T c.185C>T (p.Ser62Phe) | |
| 17 | g.44260509G>C | CA399795266 | SLC4A1 | c.380C>G (p.Ser127Cys) n.314C>G n.519C>G c.185C>G (p.Ser62Cys) | gnomAD v4 |
| 17 | g.44260509G>T | CA399795269 | SLC4A1 | c.380C>A (p.Ser127Tyr) n.314C>A n.519C>A c.185C>A (p.Ser62Tyr) |