OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.80273747_80273758delinsTCCAGGGTGAGA | CA1922577088 | MAT1A | c.*23_*34delinsTCTCACCCTGGA (n.*23_*34delinsTCTCACCCTGGA) n.443_454delinsTCTCACCCTGGA n.723_734delinsTCTCACCCTGGA | |
| 10 | g.80273753_80273763del | CA1922577091 | MAT1A | c.*23_*33del (n.*23_*33del) n.443_453del n.723_733del | dbSNP |
| 10 | g.80273754T>C | CA594459628 | MAT1A | c.*27A>G (n.*27A>G) n.447A>G n.727A>G | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80273754T>G | CA5576576 | MAT1A | c.*27A>C (n.*27A>C) n.447A>C n.727A>C | dbSNP ExAC |
| 10 | g.80273754T= | CA1922577099 | MAT1A | c.*27A= (n.*27A=) n.447A= n.727A= | |
| 10 | g.80273755G>T | CA2503371281 | MAT1A | c.*26C>A (n.*26C>A) n.446C>A n.726C>A | |
| 10 | g.80273756A= | CA1922577104 | MAT1A | c.*25T= (n.*25T=) n.445T= n.725T= | |
| 10 | g.80273756A>C | CA594459629 | MAT1A | c.*25T>G (n.*25T>G) n.445T>G n.725T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80273756A>G | CA594459631 | MAT1A | c.*25T>C (n.*25T>C) n.445T>C n.725T>C | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80273757G>T | CA2574454859 | MAT1A | c.*24C>A (n.*24C>A) n.444C>A n.724C>A | gnomAD v4 |
| 10 | g.80273758del | CA2609912716 | MAT1A | c.*23del (n.*23del) n.443del n.723del | gnomAD v4 |
| 10 | g.80273759_80273761del | CA2543728926 | MAT1A | c.*21_*23del (n.*21_*23del) n.441_443del n.721_723del | |
| 10 | g.80273759C>A | CA1922577108 | MAT1A | c.*22G>T (n.*22G>T) n.442G>T n.722G>T | dbSNP gnomAD v4 |
| 10 | g.80273759C= | CA1922577106 | MAT1A | c.*22G= (n.*22G=) n.442G= n.722G= | |
| 10 | g.80273759C>T | CA2609912717 | MAT1A | c.*22G>A (n.*22G>A) n.442G>A n.722G>A | gnomAD v4 |
| 10 | g.80273760C>A | CA2551586371 | MAT1A | c.*21G>T (n.*21G>T) n.441G>T n.721G>T | |
| 10 | g.80273761A>G | CA2571229919 | MAT1A | c.*20T>C (n.*20T>C) n.440T>C n.720T>C | gnomAD v4 |
| 10 | g.80273761A>T | CA2609912718 | MAT1A | c.*20T>A (n.*20T>A) n.440T>A n.720T>A | gnomAD v4 |
| 10 | g.80273762G>A | CA2609912719 | MAT1A | c.*19C>T (n.*19C>T) n.439C>T n.719C>T | gnomAD v4 |
| 10 | g.80273762G= | CA1922577111 | MAT1A | c.*19C= (n.*19C=) n.439C= n.719C= | |
| 10 | g.80273762G>T | CA5576577 | MAT1A | c.*19C>A (n.*19C>A) n.439C>A n.719C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80273763G>A | CA5576578 | MAT1A | c.*18C>T (n.*18C>T) n.438C>T n.718C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80273763G= | CA1922577114 | MAT1A | c.*18C= (n.*18C=) n.438C= n.718C= | |
| 10 | g.80273763G>T | CA2609912720 | MAT1A | c.*18C>A (n.*18C>A) n.438C>A n.718C>A | gnomAD v4 |
| 10 | g.80273764C>T | CA2574454866 | MAT1A | c.*17G>A (n.*17G>A) n.437G>A n.717G>A | gnomAD v4 |
| 10 | g.80273766del | CA2574454880 | MAT1A | c.*17del (n.*17del) n.437del n.717del | |
| 10 | g.80273765C= | CA1922577116 | MAT1A | c.*16G= (n.*16G=) n.436G= n.716G= | |
| 10 | g.80273765C>T | CA5576579 | MAT1A | c.*16G>A (n.*16G>A) n.436G>A n.716G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80273766C>T | CA2609912721 | MAT1A | c.*15G>A (n.*15G>A) n.435G>A n.715G>A | gnomAD v4 |
| 10 | g.80273768G>A | CA594459639 | MAT1A | c.*13C>T (n.*13C>T) n.433C>T n.713C>T | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80273768G>C | CA2609912722 | MAT1A | c.*13C>G (n.*13C>G) n.433C>G n.713C>G | gnomAD v4 |
| 10 | g.80273768G= | CA1922577118 | MAT1A | c.*13C= (n.*13C=) n.433C= n.713C= | |
| 10 | g.80273768G>T | CA2609912723 | MAT1A | c.*13C>A (n.*13C>A) n.433C>A n.713C>A | gnomAD v4 |
| 10 | g.80273769C= | CA1922577119 | MAT1A | c.*12G= (n.*12G=) n.432G= n.712G= | |
| 10 | g.80273769C>G | CA2609912724 | MAT1A | c.*12G>C (n.*12G>C) n.432G>C n.712G>C | gnomAD v4 |
| 10 | g.80273769C>T | CA5576580 | MAT1A | c.*12G>A (n.*12G>A) n.432G>A n.712G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80273770T>C | CA2574454885 | MAT1A | c.*11A>G (n.*11A>G) n.431A>G n.711A>G | gnomAD v4 |
| 10 | g.80273771C= | CA1922577120 | MAT1A | c.*10G= (n.*10G=) n.430G= n.710G= | |
| 10 | g.80273771C>T | CA594459644 | MAT1A | c.*10G>A (n.*10G>A) n.430G>A n.710G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 10 | g.80273775del | CA2609912725 | MAT1A | c.*10del (n.*10del) n.430del n.710del | gnomAD v4 |
| 10 | g.80273773C>A | CA653620293 | MAT1A | c.*8G>T (n.*8G>T) n.428G>T n.708G>T | COSMIC |
| 10 | g.80273773C>T | CA2609912726 | MAT1A | c.*8G>A (n.*8G>A) n.428G>A n.708G>A | dbSNP gnomAD v4 |
| 10 | g.80273774C>A | CA2574454888 | MAT1A | c.*7G>T (n.*7G>T) n.427G>T n.707G>T | gnomAD v4 |
| 10 | g.80273775C>A | CA2609912727 | MAT1A | c.*6G>T (n.*6G>T) n.426G>T n.706G>T | gnomAD v4 |
| 10 | g.80273775C= | CA1922577124 | MAT1A | c.*6G= (n.*6G=) n.426G= n.706G= | |
| 10 | g.80273775C>T | CA594459646 | MAT1A | c.*6G>A (n.*6G>A) n.426G>A n.706G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80273775_80273776delinsCT | CA1922577122 | MAT1A | c.*5_*6delinsAG (n.*5_*6delinsAG) n.425_426delinsAG n.705_706delinsAG | |
| 10 | g.80273776del | CA5576581 | MAT1A | c.*5del (n.*5del) n.425del n.705del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80273776T>A | CA2574454893 | MAT1A | c.*5A>T (n.*5A>T) n.425A>T n.705A>T | gnomAD v4 |
| 10 | g.80273776T>C | CA2609912728 | MAT1A | c.*5A>G (n.*5A>G) n.425A>G n.705A>G | gnomAD v4 |
| 10 | g.80273777G>A | CA594459649 | MAT1A | c.*4C>T (n.*4C>T) n.424C>T n.704C>T | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80273777G>C | CA930356834 | MAT1A | c.*4C>G (n.*4C>G) n.424C>G n.704C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80273777G= | CA1922577127 | MAT1A | c.*4C= (n.*4C=) n.424C= n.704C= | |
| 10 | g.80273778G= | CA1922577136 | MAT1A | c.*3C= (n.*3C=) n.423C= n.703C= | |
| 10 | g.80273778G>T | CA930356837 | MAT1A | c.*3C>A (n.*3C>A) n.423C>A n.703C>A | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80273779C>A | CA1922577139 | MAT1A | c.*2G>T (n.*2G>T) n.422G>T n.702G>T | dbSNP gnomAD v4 |
| 10 | g.80273779C= | CA1922577138 | MAT1A | c.*2G= (n.*2G=) n.422G= n.702G= | |
| 10 | g.80273779C>G | CA5576582 | MAT1A | c.*2G>C (n.*2G>C) n.422G>C n.702G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80273779C>T | CA2609912729 | MAT1A | c.*2G>A (n.*2G>A) n.422G>A n.702G>A | gnomAD v4 |
| 10 | g.80273781C>A | CA377360001 | MAT1A | c.1188G>T (p.Ter396Tyr) n.420G>T n.700G>T c.1065G>T (p.Ter355Tyr) | |
| 10 | g.80273781C= | CA1922577141 | MAT1A | c.1188G= (p.Ter396=) n.420G= n.700G= c.1065G= (p.Ter355=) | |
| 10 | g.80273781C>G | CA377360002 | MAT1A | c.1188G>C (p.Ter396Tyr) n.420G>C n.700G>C c.1065G>C (p.Ter355Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80273781C>T | CA5576583 | MAT1A | c.1188G>A (p.Ter396=) n.420G>A n.700G>A c.1065G>A (p.Ter355=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80273782T>A | CA377360003 | MAT1A | c.1187A>T (p.Ter396Leu) n.419A>T n.699A>T c.1064A>T (p.Ter355Leu) | |
| 10 | g.80273782T>C | CA377360004 | MAT1A | c.1187A>G (p.Ter396Trp) n.419A>G n.699A>G c.1064A>G (p.Ter355Trp) | |
| 10 | g.80273782T>G | CA377360005 | MAT1A | c.1187A>C (p.Ter396Ser) n.419A>C n.699A>C c.1064A>C (p.Ter355Ser) | |
| 10 | g.80273783A>C | CA377360008 | MAT1A | c.1186T>G (p.Ter396Glu) n.418T>G n.698T>G c.1063T>G (p.Ter355Glu) | |
| 10 | g.80273783A>G | CA377360006 | MAT1A | c.1186T>C (p.Ter396Gln) n.418T>C n.698T>C c.1063T>C (p.Ter355Gln) | |
| 10 | g.80273783A>T | CA377360007 | MAT1A | c.1186T>A (p.Ter396Lys) n.418T>A n.698T>A c.1063T>A (p.Ter355Lys) | |
| 10 | g.80273784A>C | CA377360009 | MAT1A | c.1185T>G (p.Phe395Leu) n.417T>G n.697T>G c.1062T>G (p.Phe354Leu) | |
| 10 | g.80273784A>G | CA470467159 | MAT1A | c.1185T>C (p.Phe395=) n.417T>C n.697T>C c.1062T>C (p.Phe354=) | |
| 10 | g.80273784A>T | CA377360010 | MAT1A | c.1185T>A (p.Phe395Leu) n.417T>A n.697T>A c.1062T>A (p.Phe354Leu) | |
| 10 | g.80273785A>C | CA377360011 | MAT1A | c.1184T>G (p.Phe395Cys) n.416T>G n.696T>G c.1061T>G (p.Phe354Cys) | |
| 10 | g.80273785A>G | CA377360012 | MAT1A | c.1184T>C (p.Phe395Ser) n.416T>C n.696T>C c.1061T>C (p.Phe354Ser) | |
| 10 | g.80273785A>T | CA377360013 | MAT1A | c.1184T>A (p.Phe395Tyr) n.416T>A n.696T>A c.1061T>A (p.Phe354Tyr) | |
| 10 | g.80273786A>C | CA377360014 | MAT1A | c.1183T>G (p.Phe395Val) n.415T>G n.695T>G c.1060T>G (p.Phe354Val) | |
| 10 | g.80273786A>G | CA377360015 | MAT1A | c.1183T>C (p.Phe395Leu) n.415T>C n.695T>C c.1060T>C (p.Phe354Leu) | |
| 10 | g.80273786A>T | CA377360016 | MAT1A | c.1183T>A (p.Phe395Ile) n.415T>A n.695T>A c.1060T>A (p.Phe354Ile) | gnomAD v4 |
| 10 | g.80273787T>A | CA470467160 | MAT1A | c.1182A>T (p.Val394=) n.414A>T n.694A>T c.1059A>T (p.Val353=) | |
| 10 | g.80273787T>C | CA210320825 | MAT1A | c.1182A>G (p.Val394=) n.414A>G n.694A>G c.1059A>G (p.Val353=) | dbSNP gnomAD v4 |
| 10 | g.80273787T>G | CA470467161 | MAT1A | c.1182A>C (p.Val394=) n.414A>C n.694A>C c.1059A>C (p.Val353=) | |
| 10 | g.80273787T= | CA1922577145 | MAT1A | c.1182A= (p.Val394=) n.414A= n.694A= c.1059A= (p.Val353=) | |
| 10 | g.80273788A= | CA1922577150 | MAT1A | c.1181T= (p.Val394=) n.413T= n.693T= c.1058T= (p.Val353=) | |
| 10 | g.80273788A>C | CA377360017 | MAT1A | c.1181T>G (p.Val394Gly) n.413T>G n.693T>G c.1058T>G (p.Val353Gly) | |
| 10 | g.80273788A>G | CA377360018 | MAT1A | c.1181T>C (p.Val394Ala) n.413T>C n.693T>C c.1058T>C (p.Val353Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80273788A>T | CA377360019 | MAT1A | c.1181T>A (p.Val394Glu) n.413T>A n.693T>A c.1058T>A (p.Val353Glu) | |
| 10 | g.80273789C>A | CA377360022 | MAT1A | c.1180G>T (p.Val394Leu) n.412G>T n.692G>T c.1057G>T (p.Val353Leu) | |
| 10 | g.80273789C>G | CA377360021 | MAT1A | c.1180G>C (p.Val394Leu) n.412G>C n.692G>C c.1057G>C (p.Val353Leu) | |
| 10 | g.80273789C>T | CA377360020 | MAT1A | c.1180G>A (p.Val394Ile) n.412G>A n.692G>A c.1057G>A (p.Val353Ile) | gnomAD v4 |
| 10 | g.80273790A>C | CA470467162 | MAT1A | c.1179T>G (p.Leu393=) n.411T>G n.691T>G c.1056T>G (p.Leu352=) | |
| 10 | g.80273790A>G | CA470467164 | MAT1A | c.1179T>C (p.Leu393=) n.411T>C n.691T>C c.1056T>C (p.Leu352=) | |
| 10 | g.80273790A>T | CA470467163 | MAT1A | c.1179T>A (p.Leu393=) n.411T>A n.691T>A c.1056T>A (p.Leu352=) | |
| 10 | g.80273791A= | CA1922577153 | MAT1A | c.1178T= (p.Leu393=) n.410T= n.690T= c.1055T= (p.Leu352=) | |
| 10 | g.80273791A>C | CA377360025 | MAT1A | c.1178T>G (p.Leu393Arg) n.410T>G n.690T>G c.1055T>G (p.Leu352Arg) | |
| 10 | g.80273791A>G | CA377360023 | MAT1A | c.1178T>C (p.Leu393Pro) n.410T>C n.690T>C c.1055T>C (p.Leu352Pro) | dbSNP gnomAD v4 |
| 10 | g.80273791A>T | CA377360024 | MAT1A | c.1178T>A (p.Leu393His) n.410T>A n.690T>A c.1055T>A (p.Leu352His) | |
| 10 | g.80273792G>A | CA377360026 | MAT1A | c.1177C>T (p.Leu393Phe) n.409C>T n.689C>T c.1054C>T (p.Leu352Phe) | |
| 10 | g.80273792G>C | CA377360027 | MAT1A | c.1177C>G (p.Leu393Val) n.409C>G n.689C>G c.1054C>G (p.Leu352Val) | |
| 10 | g.80273792G>T | CA377360028 | MAT1A | c.1177C>A (p.Leu393Ile) n.409C>A n.689C>A c.1054C>A (p.Leu352Ile) | |
| 10 | g.80273793C>A | CA377360029 | MAT1A | c.1176G>T (p.Lys392Asn) n.408G>T n.688G>T c.1053G>T (p.Lys351Asn) | gnomAD v4 |
| 10 | g.80273793C= | CA1922577157 | MAT1A | c.1176G= (p.Lys392=) n.408G= n.688G= c.1053G= (p.Lys351=) | |
| 10 | g.80273793C>G | CA377360030 | MAT1A | c.1176G>C (p.Lys392Asn) n.408G>C n.688G>C c.1053G>C (p.Lys351Asn) | |
| 10 | g.80273793C>T | CA470467165 | MAT1A | c.1176G>A (p.Lys392=) n.408G>A n.688G>A c.1053G>A (p.Lys351=) | dbSNP gnomAD v4 |
| 10 | g.80273794T>A | CA377360031 | MAT1A | c.1175A>T (p.Lys392Met) n.407A>T n.687A>T c.1052A>T (p.Lys351Met) | |
| 10 | g.80273794T>C | CA377360032 | MAT1A | c.1175A>G (p.Lys392Arg) n.407A>G n.687A>G c.1052A>G (p.Lys351Arg) | |
| 10 | g.80273794T>G | CA377360033 | MAT1A | c.1175A>C (p.Lys392Thr) n.407A>C n.687A>C c.1052A>C (p.Lys351Thr) | gnomAD v4 |
| 10 | g.80273795T>A | CA377360034 | MAT1A | c.1174A>T (p.Lys392Ter) n.406A>T n.686A>T c.1051A>T (p.Lys351Ter) | |
| 10 | g.80273795T>C | CA377360035 | MAT1A | c.1174A>G (p.Lys392Glu) n.406A>G n.686A>G c.1051A>G (p.Lys351Glu) | |
| 10 | g.80273795T>G | CA377360036 | MAT1A | c.1174A>C (p.Lys392Gln) n.406A>C n.686A>C c.1051A>C (p.Lys351Gln) | |
| 10 | g.80273796C>A | CA377360038 | MAT1A | c.1173G>T (p.Arg391Ser) n.405G>T n.685G>T c.1050G>T (p.Arg350Ser) | |
| 10 | g.80273796C>G | CA377360037 | MAT1A | c.1173G>C (p.Arg391Ser) n.405G>C n.685G>C c.1050G>C (p.Arg350Ser) | |
| 10 | g.80273796C>T | CA470467166 | MAT1A | c.1173G>A (p.Arg391=) n.405G>A n.685G>A c.1050G>A (p.Arg350=) | |
| 10 | g.80273797C>A | CA377360039 | MAT1A | c.1172G>T (p.Arg391Met) n.404G>T n.684G>T c.1049G>T (p.Arg350Met) | |
| 10 | g.80273797C= | CA1922577161 | MAT1A | c.1172G= (p.Arg391=) n.404G= n.684G= c.1049G= (p.Arg350=) | |
| 10 | g.80273797C>G | CA377360040 | MAT1A | c.1172G>C (p.Arg391Thr) n.404G>C n.684G>C c.1049G>C (p.Arg350Thr) | |
| 10 | g.80273797C>T | CA210320826 | MAT1A | c.1172G>A (p.Arg391Lys) n.404G>A n.684G>A c.1049G>A (p.Arg350Lys) | dbSNP |
| 10 | g.80273798T>A | CA377360041 | MAT1A | c.1171A>T (p.Arg391Trp) n.403A>T n.683A>T c.1048A>T (p.Arg350Trp) | |
| 10 | g.80273798T>C | CA377360042 | MAT1A | c.1171A>G (p.Arg391Gly) n.403A>G n.683A>G c.1048A>G (p.Arg350Gly) | dbSNP |
| 10 | g.80273798T>G | CA470467167 | MAT1A | c.1171A>C (p.Arg391=) n.403A>C n.683A>C c.1048A>C (p.Arg350=) | |
| 10 | g.80273798T= | CA1922577163 | MAT1A | c.1171A= (p.Arg391=) n.403A= n.683A= c.1048A= (p.Arg350=) | |
| 10 | g.80273799G>A | CA470467170 | MAT1A | c.1170C>T (p.Pro390=) n.402C>T n.682C>T c.1047C>T (p.Pro349=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80273799G>C | CA470467168 | MAT1A | c.1170C>G (p.Pro390=) n.402C>G n.682C>G c.1047C>G (p.Pro349=) | |
| 10 | g.80273799G= | CA1922577166 | MAT1A | c.1170C= (p.Pro390=) n.402C= n.682C= c.1047C= (p.Pro349=) | |
| 10 | g.80273799G>T | CA470467169 | MAT1A | c.1170C>A (p.Pro390=) n.402C>A n.682C>A c.1047C>A (p.Pro349=) | |
| 10 | g.80273800G>A | CA377360043 | MAT1A | c.1169C>T (p.Pro390Leu) n.401C>T n.681C>T c.1046C>T (p.Pro349Leu) | |
| 10 | g.80273800G>C | CA377360044 | MAT1A | c.1169C>G (p.Pro390Arg) n.401C>G n.681C>G c.1046C>G (p.Pro349Arg) | |
| 10 | g.80273800G>T | CA377360045 | MAT1A | c.1169C>A (p.Pro390His) n.401C>A n.681C>A c.1046C>A (p.Pro349His) | ClinVar |
| 10 | g.80273801G>A | CA377360046 | MAT1A | c.1168C>T (p.Pro390Ser) n.400C>T n.680C>T c.1045C>T (p.Pro349Ser) | |
| 10 | g.80273801G>C | CA377360047 | MAT1A | c.1168C>G (p.Pro390Ala) n.400C>G n.680C>G c.1045C>G (p.Pro349Ala) | |
| 10 | g.80273801G>T | CA377360048 | MAT1A | c.1168C>A (p.Pro390Thr) n.400C>A n.680C>A c.1045C>A (p.Pro349Thr) | |
| 10 | g.80273802A>C | CA470467171 | MAT1A | c.1167T>G (p.Val389=) n.399T>G n.679T>G c.1044T>G (p.Val348=) | |
| 10 | g.80273802A>G | CA470467172 | MAT1A | c.1167T>C (p.Val389=) n.399T>C n.679T>C c.1044T>C (p.Val348=) | |
| 10 | g.80273802A>T | CA470467173 | MAT1A | c.1167T>A (p.Val389=) n.399T>A n.679T>A c.1044T>A (p.Val348=) | |
| 10 | g.80273803A= | CA1922577169 | MAT1A | c.1166T= (p.Val389=) n.398T= n.678T= c.1043T= (p.Val348=) | |
| 10 | g.80273803A>C | CA377360049 | MAT1A | c.1166T>G (p.Val389Gly) n.398T>G n.678T>G c.1043T>G (p.Val348Gly) | |
| 10 | g.80273803A>G | CA5576584 | MAT1A | c.1166T>C (p.Val389Ala) n.398T>C n.678T>C c.1043T>C (p.Val348Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80273803A>T | CA377360050 | MAT1A | c.1166T>A (p.Val389Asp) n.398T>A n.678T>A c.1043T>A (p.Val348Asp) | |
| 10 | g.80273804C>A | CA377360052 | MAT1A | c.1165G>T (p.Val389Phe) n.397G>T n.677G>T c.1042G>T (p.Val348Phe) | gnomAD v4 |
| 10 | g.80273804C>G | CA377360053 | MAT1A | c.1165G>C (p.Val389Leu) n.397G>C n.677G>C c.1042G>C (p.Val348Leu) | COSMIC |
| 10 | g.80273804C>T | CA377360051 | MAT1A | c.1165G>A (p.Val389Ile) n.397G>A n.677G>A c.1042G>A (p.Val348Ile) | |
| 10 | g.80273805C>A | CA377360054 | MAT1A | c.1164G>T (p.Glu388Asp) n.396G>T n.676G>T c.1041G>T (p.Glu347Asp) | |
| 10 | g.80273805C= | CA1922577172 | MAT1A | c.1164G= (p.Glu388=) n.396G= n.676G= c.1041G= (p.Glu347=) | |
| 10 | g.80273805C>G | CA377360055 | MAT1A | c.1164G>C (p.Glu388Asp) n.396G>C n.676G>C c.1041G>C (p.Glu347Asp) | |
| 10 | g.80273805C>T | CA5576585 | MAT1A | c.1164G>A (p.Glu388=) n.396G>A n.676G>A c.1041G>A (p.Glu347=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80273806T>A | CA377360056 | MAT1A | c.1163A>T (p.Glu388Val) n.395A>T n.675A>T c.1040A>T (p.Glu347Val) | gnomAD v4 |
| 10 | g.80273806T>C | CA377360057 | MAT1A | c.1163A>G (p.Glu388Gly) n.395A>G n.675A>G c.1040A>G (p.Glu347Gly) | |
| 10 | g.80273806T>G | CA377360058 | MAT1A | c.1163A>C (p.Glu388Ala) n.395A>C n.675A>C c.1040A>C (p.Glu347Ala) | |
| 10 | g.80273807C>A | CA377360059 | MAT1A | c.1162G>T (p.Glu388Ter) n.394G>T n.674G>T c.1039G>T (p.Glu347Ter) | |
| 10 | g.80273807C>G | CA377360060 | MAT1A | c.1162G>C (p.Glu388Gln) n.394G>C n.674G>C c.1039G>C (p.Glu347Gln) | |
| 10 | g.80273807C>T | CA377360061 | MAT1A | c.1162G>A (p.Glu388Lys) n.394G>A n.674G>A c.1039G>A (p.Glu347Lys) | |
| 10 | g.80273808C>A | CA5576586 | MAT1A | c.1161G>T (p.Trp387Cys) n.393G>T n.673G>T c.1038G>T (p.Trp346Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80273808C= | CA1922577176 | MAT1A | c.1161G= (p.Trp387=) n.393G= n.673G= c.1038G= (p.Trp346=) | |
| 10 | g.80273808C>G | CA377360062 | MAT1A | c.1161G>C (p.Trp387Cys) n.393G>C n.673G>C c.1038G>C (p.Trp346Cys) | |
| 10 | g.80273808C>T | CA377360063 | MAT1A | c.1161G>A (p.Trp387Ter) n.393G>A n.673G>A c.1038G>A (p.Trp346Ter) | |
| 10 | g.80273809C>A | CA377360064 | MAT1A | c.1160G>T (p.Trp387Leu) n.392G>T n.672G>T c.1037G>T (p.Trp346Leu) | |
| 10 | g.80273809C= | CA1922577178 | MAT1A | c.1160G= (p.Trp387=) n.392G= n.672G= c.1037G= (p.Trp346=) | |
| 10 | g.80273809C>G | CA377360065 | MAT1A | c.1160G>C (p.Trp387Ser) n.392G>C n.672G>C c.1037G>C (p.Trp346Ser) | COSMIC |
| 10 | g.80273809C>T | CA377360066 | MAT1A | c.1160G>A (p.Trp387Ter) n.392G>A n.672G>A c.1037G>A (p.Trp346Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80273810A>C | CA377360069 | MAT1A | c.1159T>G (p.Trp387Gly) n.391T>G n.671T>G c.1036T>G (p.Trp346Gly) | |
| 10 | g.80273810A>G | CA377360067 | MAT1A | c.1159T>C (p.Trp387Arg) n.391T>C n.671T>C c.1036T>C (p.Trp346Arg) | gnomAD v4 |
| 10 | g.80273810A>T | CA377360068 | MAT1A | c.1159T>A (p.Trp387Arg) n.391T>A n.671T>A c.1036T>A (p.Trp346Arg) | |
| 10 | g.80273811T>A | CA470467174 | MAT1A | c.1158A>T (p.Pro386=) n.390A>T n.670A>T c.1035A>T (p.Pro345=) | |
| 10 | g.80273811T>C | CA470467175 | MAT1A | c.1158A>G (p.Pro386=) n.390A>G n.670A>G c.1035A>G (p.Pro345=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80273811T>G | CA470467176 | MAT1A | c.1158A>C (p.Pro386=) n.390A>C n.670A>C c.1035A>C (p.Pro345=) | |
| 10 | g.80273811T= | CA1922577183 | MAT1A | c.1158A= (p.Pro386=) n.390A= n.670A= c.1035A= (p.Pro345=) | |
| 10 | g.80273812G>A | CA377360070 | MAT1A | c.1157C>T (p.Pro386Leu) n.389C>T n.669C>T c.1034C>T (p.Pro345Leu) | |
| 10 | g.80273812G>C | CA377360071 | MAT1A | c.1157C>G (p.Pro386Arg) n.389C>G n.669C>G c.1034C>G (p.Pro345Arg) | |
| 10 | g.80273812G>T | CA377360072 | MAT1A | c.1157C>A (p.Pro386Gln) n.389C>A n.669C>A c.1034C>A (p.Pro345Gln) | |
| 10 | g.80273813G>A | CA377360073 | MAT1A | c.1156C>T (p.Pro386Ser) n.388C>T n.668C>T c.1033C>T (p.Pro345Ser) | gnomAD v4 |
| 10 | g.80273813G>C | CA377360074 | MAT1A | c.1156C>G (p.Pro386Ala) n.388C>G n.668C>G c.1033C>G (p.Pro345Ala) | |
| 10 | g.80273813G>T | CA377360075 | MAT1A | c.1156C>A (p.Pro386Thr) n.388C>A n.668C>A c.1033C>A (p.Pro345Thr) | gnomAD v4 |
| 10 | g.80273814G>A | CA470467177 | MAT1A | c.1155C>T (p.Phe385=) n.387C>T n.667C>T c.1032C>T (p.Phe344=) | |
| 10 | g.80273814G>C | CA377360076 | MAT1A | c.1155C>G (p.Phe385Leu) n.387C>G n.667C>G c.1032C>G (p.Phe344Leu) | |
| 10 | g.80273814G>T | CA377360077 | MAT1A | c.1155C>A (p.Phe385Leu) n.387C>A n.667C>A c.1032C>A (p.Phe344Leu) | |
| 10 | g.80273815A= | CA1922577187 | MAT1A | c.1154T= (p.Phe385=) n.386T= n.666T= c.1031T= (p.Phe344=) | |
| 10 | g.80273815A>C | CA377360078 | MAT1A | c.1154T>G (p.Phe385Cys) n.386T>G n.666T>G c.1031T>G (p.Phe344Cys) | |
| 10 | g.80273815A>G | CA5576587 | MAT1A | c.1154T>C (p.Phe385Ser) n.386T>C n.666T>C c.1031T>C (p.Phe344Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80273815A>T | CA377360079 | MAT1A | c.1154T>A (p.Phe385Tyr) n.386T>A n.666T>A c.1031T>A (p.Phe344Tyr) | |
| 10 | g.80273816A>C | CA377360082 | MAT1A | c.1153T>G (p.Phe385Val) n.385T>G n.665T>G c.1030T>G (p.Phe344Val) | |
| 10 | g.80273816A>G | CA377360081 | MAT1A | c.1153T>C (p.Phe385Leu) n.385T>C n.665T>C c.1030T>C (p.Phe344Leu) | |
| 10 | g.80273816A>T | CA377360080 | MAT1A | c.1153T>A (p.Phe385Ile) n.385T>A n.665T>A c.1030T>A (p.Phe344Ile) | |
| 10 | g.80273817C>A | CA377360083 | MAT1A | c.1152G>T (p.Glu384Asp) n.384G>T n.664G>T c.1029G>T (p.Glu343Asp) | |
| 10 | g.80273817C= | CA1922577189 | MAT1A | c.1152G= (p.Glu384=) n.384G= n.664G= c.1029G= (p.Glu343=) | |
| 10 | g.80273817C>G | CA377360084 | MAT1A | c.1152G>C (p.Glu384Asp) n.384G>C n.664G>C c.1029G>C (p.Glu343Asp) | |
| 10 | g.80273817C>T | CA5576588 | MAT1A | c.1152G>A (p.Glu384=) n.384G>A n.664G>A c.1029G>A (p.Glu343=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80273818T>A | CA377360085 | MAT1A | c.1151A>T (p.Glu384Val) n.383A>T n.663A>T c.1028A>T (p.Glu343Val) | gnomAD v4 |
| 10 | g.80273818T>C | CA377360086 | MAT1A | c.1151A>G (p.Glu384Gly) n.383A>G n.663A>G c.1028A>G (p.Glu343Gly) | |
| 10 | g.80273818T>G | CA377360087 | MAT1A | c.1151A>C (p.Glu384Ala) n.383A>C n.663A>C c.1028A>C (p.Glu343Ala) | |
| 10 | g.80273819C>A | CA377360088 | MAT1A | c.1150G>T (p.Glu384Ter) n.382G>T n.662G>T c.1027G>T (p.Glu343Ter) | dbSNP |
| 10 | g.80273819C= | CA1922577192 | MAT1A | c.1150G= (p.Glu384=) n.382G= n.662G= c.1027G= (p.Glu343=) | |
| 10 | g.80273819C>G | CA5576589 | MAT1A | c.1150G>C (p.Glu384Gln) n.382G>C n.662G>C c.1027G>C (p.Glu343Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80273819C>T | CA377360089 | MAT1A | c.1150G>A (p.Glu384Lys) n.382G>A n.662G>A c.1027G>A (p.Glu343Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80273820G>A | CA210320905 | MAT1A | c.1149C>T (p.Ser383=) n.381C>T n.661C>T c.1026C>T (p.Ser342=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.80273820G>C | CA377360090 | MAT1A | c.1149C>G (p.Ser383Arg) n.381C>G n.661C>G c.1026C>G (p.Ser342Arg) | gnomAD v4 |
| 10 | g.80273820G= | CA1922577193 | MAT1A | c.1149C= (p.Ser383=) n.381C= n.661C= c.1026C= (p.Ser342=) | |
| 10 | g.80273820G>T | CA377360091 | MAT1A | c.1149C>A (p.Ser383Arg) n.381C>A n.661C>A c.1026C>A (p.Ser342Arg) | gnomAD v4 |
| 10 | g.80273821C>A | CA377360092 | MAT1A | c.1148G>T (p.Ser383Ile) n.380G>T n.660G>T c.1025G>T (p.Ser342Ile) | |
| 10 | g.80273821C= | CA1922577195 | MAT1A | c.1148G= (p.Ser383=) n.380G= n.660G= c.1025G= (p.Ser342=) | |
| 10 | g.80273821C>G | CA377360093 | MAT1A | c.1148G>C (p.Ser383Thr) n.380G>C n.660G>C c.1025G>C (p.Ser342Thr) | |
| 10 | g.80273821C>T | CA5576590 | MAT1A | c.1148G>A (p.Ser383Asn) n.380G>A n.660G>A c.1025G>A (p.Ser342Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80273822T>A | CA377360094 | MAT1A | c.1147A>T (p.Ser383Cys) n.379A>T n.659A>T c.1024A>T (p.Ser342Cys) | |
| 10 | g.80273822T>C | CA377360095 | MAT1A | c.1147A>G (p.Ser383Gly) n.379A>G n.659A>G c.1024A>G (p.Ser342Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80273822T>G | CA377360096 | MAT1A | c.1147A>C (p.Ser383Arg) n.379A>C n.659A>C c.1024A>C (p.Ser342Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80273822T= | CA1922577198 | MAT1A | c.1147A= (p.Ser383=) n.379A= n.659A= c.1024A= (p.Ser342=) | |
| 10 | g.80273823T>A | CA377360097 | MAT1A | c.1146A>T (p.Arg382Ser) n.378A>T n.658A>T c.1023A>T (p.Arg341Ser) | |
| 10 | g.80273823T>C | CA470467178 | MAT1A | c.1146A>G (p.Arg382=) n.378A>G n.658A>G c.1023A>G (p.Arg341=) | |
| 10 | g.80273823T>G | CA377360098 | MAT1A | c.1146A>C (p.Arg382Ser) n.378A>C n.658A>C c.1023A>C (p.Arg341Ser) | |
| 10 | g.80273824C>A | CA377360101 | MAT1A | c.1145G>T (p.Arg382Ile) n.377G>T n.657G>T c.1022G>T (p.Arg341Ile) | dbSNP gnomAD v4 |
| 10 | g.80273824C= | CA1922577202 | MAT1A | c.1145G= (p.Arg382=) n.377G= n.657G= c.1022G= (p.Arg341=) | |
| 10 | g.80273824C>G | CA377360099 | MAT1A | c.1145G>C (p.Arg382Thr) n.377G>C n.657G>C c.1022G>C (p.Arg341Thr) | |
| 10 | g.80273824C>T | CA377360100 | MAT1A | c.1145G>A (p.Arg382Lys) n.377G>A n.657G>A c.1022G>A (p.Arg341Lys) | |
| 10 | g.80273825T>A | CA377360102 | MAT1A | c.1144A>T (p.Arg382Ter) n.376A>T n.656A>T c.1021A>T (p.Arg341Ter) | |
| 10 | g.80273825T>C | CA377360103 | MAT1A | c.1144A>G (p.Arg382Gly) n.376A>G n.656A>G c.1021A>G (p.Arg341Gly) | |
| 10 | g.80273825T>G | CA470467179 | MAT1A | c.1144A>C (p.Arg382=) n.376A>C n.656A>C c.1021A>C (p.Arg341=) | |
| 10 | g.80273826T>A | CA470467180 | MAT1A | c.1143A>T (p.Gly381=) n.375A>T n.655A>T c.1020A>T (p.Gly340=) | |
| 10 | g.80273826T>C | CA470467182 | MAT1A | c.1143A>G (p.Gly381=) n.375A>G n.655A>G c.1020A>G (p.Gly340=) | |
| 10 | g.80273826T>G | CA470467181 | MAT1A | c.1143A>C (p.Gly381=) n.375A>C n.655A>C c.1020A>C (p.Gly340=) | |
| 10 | g.80273827C>A | CA377360104 | MAT1A | c.1142G>T (p.Gly381Val) n.374G>T n.654G>T c.1019G>T (p.Gly340Val) | dbSNP |
| 10 | g.80273827C= | CA1922577206 | MAT1A | c.1142G= (p.Gly381=) n.374G= n.654G= c.1019G= (p.Gly340=) | |
| 10 | g.80273827C>G | CA377360105 | MAT1A | c.1142G>C (p.Gly381Ala) n.374G>C n.654G>C c.1019G>C (p.Gly340Ala) | |
| 10 | g.80273827C>T | CA377360106 | MAT1A | c.1142G>A (p.Gly381Glu) n.374G>A n.654G>A c.1019G>A (p.Gly340Glu) | gnomAD v4 |
| 10 | g.80273828C>A | CA377360107 | MAT1A | c.1141G>T (p.Gly381Ter) n.373G>T n.653G>T c.1018G>T (p.Gly340Ter) | |
| 10 | g.80273828C= | CA1922577208 | MAT1A | c.1141G= (p.Gly381=) n.373G= n.653G= c.1018G= (p.Gly340=) | |
| 10 | g.80273828C>G | CA377360109 | MAT1A | c.1141G>C (p.Gly381Arg) n.373G>C n.653G>C c.1018G>C (p.Gly340Arg) | |
| 10 | g.80273828C>T | CA377360108 | MAT1A | c.1141G>A (p.Gly381Arg) n.373G>A n.653G>A c.1018G>A (p.Gly340Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.80273829G>A | CA5576591 | MAT1A | c.1140C>T (p.Phe380=) n.372C>T n.652C>T c.1017C>T (p.Phe339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.80273829G>C | CA377360111 | MAT1A | c.1140C>G (p.Phe380Leu) n.372C>G n.652C>G c.1017C>G (p.Phe339Leu) | |
| 10 | g.80273829G= | CA1922577214 | MAT1A | c.1140C= (p.Phe380=) n.372C= n.652C= c.1017C= (p.Phe339=) | |
| 10 | g.80273829G>T | CA377360110 | MAT1A | c.1140C>A (p.Phe380Leu) n.372C>A n.652C>A c.1017C>A (p.Phe339Leu) | |
| 10 | g.80273830A>C | CA377360112 | MAT1A | c.1139T>G (p.Phe380Cys) n.371T>G n.651T>G c.1016T>G (p.Phe339Cys) | |
| 10 | g.80273830A>G | CA377360113 | MAT1A | c.1139T>C (p.Phe380Ser) n.371T>C n.651T>C c.1016T>C (p.Phe339Ser) | |
| 10 | g.80273830A>T | CA377360114 | MAT1A | c.1139T>A (p.Phe380Tyr) n.371T>A n.651T>A c.1016T>A (p.Phe339Tyr) | |
| 10 | g.80273831A>C | CA377360115 | MAT1A | c.1138T>G (p.Phe380Val) n.370T>G n.650T>G c.1015T>G (p.Phe339Val) | |
| 10 | g.80273831A>G | CA377360116 | MAT1A | c.1138T>C (p.Phe380Leu) n.370T>C n.650T>C c.1015T>C (p.Phe339Leu) | |
| 10 | g.80273831A>T | CA377360117 | MAT1A | c.1138T>A (p.Phe380Ile) n.370T>A n.650T>A c.1015T>A (p.Phe339Ile) | |
| 10 | g.80273832A>C | CA377360119 | MAT1A | c.1137T>G (p.His379Gln) n.369T>G n.649T>G c.1014T>G (p.His338Gln) | |
| 10 | g.80273832A>G | CA470467183 | MAT1A | c.1137T>C (p.His379=) n.369T>C n.649T>C c.1014T>C (p.His338=) | |
| 10 | g.80273832A>T | CA377360118 | MAT1A | c.1137T>A (p.His379Gln) n.369T>A n.649T>A c.1014T>A (p.His338Gln) | |
| 10 | g.80273833T>A | CA377360120 | MAT1A | c.1136A>T (p.His379Leu) n.368A>T n.648A>T c.1013A>T (p.His338Leu) | |
| 10 | g.80273833T>C | CA377360121 | MAT1A | c.1136A>G (p.His379Arg) n.368A>G n.648A>G c.1013A>G (p.His338Arg) | |
| 10 | g.80273833T>G | CA377360122 | MAT1A | c.1136A>C (p.His379Pro) n.368A>C n.648A>C c.1013A>C (p.His338Pro) | |
| 10 | g.80273834G>A | CA377360123 | MAT1A | c.1135C>T (p.His379Tyr) n.367C>T n.647C>T c.1012C>T (p.His338Tyr) | gnomAD v4 |
| 10 | g.80273834G>C | CA377360124 | MAT1A | c.1135C>G (p.His379Asp) n.367C>G n.647C>G c.1012C>G (p.His338Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80273834G= | CA1922577219 | MAT1A | c.1135C= (p.His379=) n.367C= n.647C= c.1012C= (p.His338=) | |
| 10 | g.80273834G>T | CA377360125 | MAT1A | c.1135C>A (p.His379Asn) n.367C>A n.647C>A c.1012C>A (p.His338Asn) | |
| 10 | g.80273835G>A | CA470467186 | MAT1A | c.1134C>T (p.Gly378=) n.366C>T n.646C>T c.1011C>T (p.Gly337=) | gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.80273835G>C | CA470467184 | MAT1A | c.1134C>G (p.Gly378=) n.366C>G n.646C>G c.1011C>G (p.Gly337=) | |
| 10 | g.80273835G>T | CA470467185 | MAT1A | c.1134C>A (p.Gly378=) n.366C>A n.646C>A c.1011C>A (p.Gly337=) | |
| 10 | g.80273836C>A | CA377360128 | MAT1A | c.1133G>T (p.Gly378Val) n.365G>T n.645G>T c.1010G>T (p.Gly337Val) | |
| 10 | g.80273836C>G | CA377360126 | MAT1A | c.1133G>C (p.Gly378Ala) n.365G>C n.645G>C c.1010G>C (p.Gly337Ala) | |
| 10 | g.80273836C>T | CA377360127 | MAT1A | c.1133G>A (p.Gly378Asp) n.365G>A n.645G>A c.1010G>A (p.Gly337Asp) | gnomAD v4 |
| 10 | g.80273837C>A | CA377360129 | MAT1A | c.1132G>T (p.Gly378Cys) n.364G>T n.644G>T c.1009G>T (p.Gly337Cys) | |
| 10 | g.80273837C= | CA1922577224 | MAT1A | c.1132G= (p.Gly378=) n.364G= n.644G= c.1009G= (p.Gly337=) | |
| 10 | g.80273837C>G | CA377360130 | MAT1A | c.1132G>C (p.Gly378Arg) n.364G>C n.644G>C c.1009G>C (p.Gly337Arg) | |
| 10 | g.80273837C>T | CA377360131 | MAT1A | c.1132G>A (p.Gly378Ser) n.364G>A n.644G>A c.1009G>A (p.Gly337Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80273838G>A | CA5576592 | MAT1A | c.1131C>T (p.Tyr377=) n.363C>T n.643C>T c.1008C>T (p.Tyr336=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80273838G>C | CA377360132 | MAT1A | c.1131C>G (p.Tyr377Ter) n.363C>G n.643C>G c.1008C>G (p.Tyr336Ter) | |
| 10 | g.80273838G= | CA1630848385 | MAT1A | c.1131C= (p.Tyr377=) n.363C= n.643C= c.1008C= (p.Tyr336=) | |
| 10 | g.80273838G>T | CA377360133 | MAT1A | c.1131C>A (p.Tyr377Ter) n.363C>A n.643C>A c.1008C>A (p.Tyr336Ter) | |
| 10 | g.80273839T>A | CA377360134 | MAT1A | c.1130A>T (p.Tyr377Phe) n.362A>T n.642A>T c.1007A>T (p.Tyr336Phe) | |
| 10 | g.80273839T>C | CA377360135 | MAT1A | c.1130A>G (p.Tyr377Cys) n.362A>G n.642A>G c.1007A>G (p.Tyr336Cys) | gnomAD v4 |
| 10 | g.80273839T>G | CA377360136 | MAT1A | c.1130A>C (p.Tyr377Ser) n.362A>C n.642A>C c.1007A>C (p.Tyr336Ser) | gnomAD v4 |
| 10 | g.80273840A= | CA1922577234 | MAT1A | c.1129T= (p.Tyr377=) n.361T= n.641T= c.1006T= (p.Tyr336=) | |
| 10 | g.80273840A>C | CA210320944 | MAT1A | c.1129T>G (p.Tyr377Asp) n.361T>G n.641T>G c.1006T>G (p.Tyr336Asp) | dbSNP gnomAD v4 |
| 10 | g.80273840A>G | CA377360137 | MAT1A | c.1129T>C (p.Tyr377His) n.361T>C n.641T>C c.1006T>C (p.Tyr336His) | |
| 10 | g.80273840A>T | CA377360138 | MAT1A | c.1129T>A (p.Tyr377Asn) n.361T>A n.641T>A c.1006T>A (p.Tyr336Asn) | gnomAD v4 |
| 10 | g.80273841G>A | CA5576593 | MAT1A | c.1128C>T (p.Cys376=) n.360C>T n.640C>T c.1005C>T (p.Cys335=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80273841G>C | CA377360140 | MAT1A | c.1128C>G (p.Cys376Trp) n.360C>G n.640C>G c.1005C>G (p.Cys335Trp) | |
| 10 | g.80273841G= | CA1922577238 | MAT1A | c.1128C= (p.Cys376=) n.360C= n.640C= c.1005C= (p.Cys335=) | |
| 10 | g.80273841G>T | CA377360139 | MAT1A | c.1128C>A (p.Cys376Ter) n.360C>A n.640C>A c.1005C>A (p.Cys335Ter) | |
| 10 | g.80273842C>A | CA377360141 | MAT1A | c.1127G>T (p.Cys376Phe) n.359G>T n.639G>T c.1004G>T (p.Cys335Phe) | |
| 10 | g.80273842C>G | CA377360142 | MAT1A | c.1127G>C (p.Cys376Ser) n.359G>C n.639G>C c.1004G>C (p.Cys335Ser) | |
| 10 | g.80273842C>T | CA377360143 | MAT1A | c.1127G>A (p.Cys376Tyr) n.359G>A n.639G>A c.1004G>A (p.Cys335Tyr) | |
| 10 | g.80273843A>C | CA377360144 | MAT1A | c.1126T>G (p.Cys376Gly) n.358T>G n.638T>G c.1003T>G (p.Cys335Gly) | |
| 10 | g.80273843A>G | CA377360145 | MAT1A | c.1126T>C (p.Cys376Arg) n.358T>C n.638T>C c.1003T>C (p.Cys335Arg) | |
| 10 | g.80273843A>T | CA377360146 | MAT1A | c.1126T>A (p.Cys376Ser) n.358T>A n.638T>A c.1003T>A (p.Cys335Ser) | |
| 10 | g.80273844T>A | CA470467187 | MAT1A | c.1125A>T (p.Ala375=) n.357A>T n.637A>T c.1002A>T (p.Ala334=) | |
| 10 | g.80273844T>C | CA470467188 | MAT1A | c.1125A>G (p.Ala375=) n.357A>G n.637A>G c.1002A>G (p.Ala334=) | |
| 10 | g.80273844T>G | CA470467189 | MAT1A | c.1125A>C (p.Ala375=) n.357A>C n.637A>C c.1002A>C (p.Ala334=) | |
| 10 | g.80273845G>A | CA377360147 | MAT1A | c.1124C>T (p.Ala375Val) n.356C>T n.636C>T c.1001C>T (p.Ala334Val) | |
| 10 | g.80273845G>C | CA377360148 | MAT1A | c.1124C>G (p.Ala375Gly) n.356C>G n.636C>G c.1001C>G (p.Ala334Gly) | |
| 10 | g.80273845G>T | CA377360149 | MAT1A | c.1124C>A (p.Ala375Glu) n.356C>A n.636C>A c.1001C>A (p.Ala334Glu) | |
| 10 | g.80273846C>A | CA377360150 | MAT1A | c.1123G>T (p.Ala375Ser) n.355G>T n.635G>T c.1000G>T (p.Ala334Ser) | |
| 10 | g.80273846C= | CA1922577243 | MAT1A | c.1123G= (p.Ala375=) n.355G= n.635G= c.1000G= (p.Ala334=) | |
| 10 | g.80273846C>G | CA377360151 | MAT1A | c.1123G>C (p.Ala375Pro) n.355G>C n.635G>C c.1000G>C (p.Ala334Pro) | |
| 10 | g.80273846C>T | CA377360152 | MAT1A | c.1123G>A (p.Ala375Thr) n.355G>A n.635G>A c.1000G>A (p.Ala334Thr) | dbSNP gnomAD v4 |
| 10 | g.80273846_80273847del | CA2574454926 | MAT1A | c.1122_1123del (p.Ala375MetfsTer?) n.354_355del n.634_635del c.999_1000del (p.Ala334MetfsTer?) | gnomAD v4 |
| 10 | g.80273847T>A | CA470467190 | MAT1A | c.1122A>T (p.Thr374=) n.354A>T n.634A>T c.999A>T (p.Thr333=) | |
| 10 | g.80273847T>C | CA470467191 | MAT1A | c.1122A>G (p.Thr374=) n.354A>G n.634A>G c.999A>G (p.Thr333=) | |
| 10 | g.80273847T>G | CA470467192 | MAT1A | c.1122A>C (p.Thr374=) n.354A>C n.634A>C c.999A>C (p.Thr333=) | gnomAD v4 |
| 10 | g.80273848G>A | CA377360155 | MAT1A | c.1121C>T (p.Thr374Ile) n.353C>T n.633C>T c.998C>T (p.Thr333Ile) | |
| 10 | g.80273848G>C | CA377360153 | MAT1A | c.1121C>G (p.Thr374Arg) n.353C>G n.633C>G c.998C>G (p.Thr333Arg) | |
| 10 | g.80273848G>T | CA377360154 | MAT1A | c.1121C>A (p.Thr374Lys) n.353C>A n.633C>A c.998C>A (p.Thr333Lys) | |
| 10 | g.80273849T>A | CA377360156 | MAT1A | c.1120A>T (p.Thr374Ser) n.352A>T n.632A>T c.997A>T (p.Thr333Ser) | |
| 10 | g.80273849T>C | CA377360157 | MAT1A | c.1120A>G (p.Thr374Ala) n.352A>G n.632A>G c.997A>G (p.Thr333Ala) | |
| 10 | g.80273849T>G | CA377360158 | MAT1A | c.1120A>C (p.Thr374Pro) n.352A>C n.632A>C c.997A>C (p.Thr333Pro) | |
| 10 | g.80273850C>A | CA377360159 | MAT1A | c.1119G>T (p.Lys373Asn) n.351G>T n.631G>T c.996G>T (p.Lys332Asn) | gnomAD v4 |
| 10 | g.80273850C>G | CA377360160 | MAT1A | c.1119G>C (p.Lys373Asn) n.351G>C n.631G>C c.996G>C (p.Lys332Asn) | gnomAD v4 |
| 10 | g.80273850C>T | CA470467193 | MAT1A | c.1119G>A (p.Lys373=) n.351G>A n.631G>A c.996G>A (p.Lys332=) | COSMIC |
| 10 | g.80273851T>A | CA377360161 | MAT1A | c.1118A>T (p.Lys373Met) n.350A>T n.630A>T c.995A>T (p.Lys332Met) | |
| 10 | g.80273851T>C | CA377360162 | MAT1A | c.1118A>G (p.Lys373Arg) n.350A>G n.630A>G c.995A>G (p.Lys332Arg) | |
| 10 | g.80273851T>G | CA377360163 | MAT1A | c.1118A>C (p.Lys373Thr) n.350A>C n.630A>C c.995A>C (p.Lys332Thr) | |
| 10 | g.80273852T>A | CA377360164 | MAT1A | c.1117A>T (p.Lys373Ter) n.349A>T n.629A>T c.994A>T (p.Lys332Ter) | |
| 10 | g.80273852T>C | CA377360165 | MAT1A | c.1117A>G (p.Lys373Glu) n.349A>G n.629A>G c.994A>G (p.Lys332Glu) | |
| 10 | g.80273852T>G | CA377360166 | MAT1A | c.1117A>C (p.Lys373Gln) n.349A>C n.629A>C c.994A>C (p.Lys332Gln) | gnomAD v4 |
| 10 | g.80273853C>A | CA377360167 | MAT1A | c.1116G>T (p.Gln372His) n.348G>T n.628G>T c.993G>T (p.Gln331His) | |
| 10 | g.80273853C>G | CA377360168 | MAT1A | c.1116G>C (p.Gln372His) n.348G>C n.628G>C c.993G>C (p.Gln331His) | |
| 10 | g.80273853C>T | CA470467194 | MAT1A | c.1116G>A (p.Gln372=) n.348G>A n.628G>A c.993G>A (p.Gln331=) | gnomAD v4 |
| 10 | g.80273854T>A | CA377360169 | MAT1A | c.1115A>T (p.Gln372Leu) n.347A>T n.627A>T c.992A>T (p.Gln331Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80273854T>C | CA377360171 | MAT1A | c.1115A>G (p.Gln372Arg) n.347A>G n.627A>G c.992A>G (p.Gln331Arg) | |
| 10 | g.80273854T>G | CA377360170 | MAT1A | c.1115A>C (p.Gln372Pro) n.347A>C n.627A>C c.992A>C (p.Gln331Pro) | |
| 10 | g.80273854T= | CA1922577245 | MAT1A | c.1115A= (p.Gln372=) n.347A= n.627A= c.992A= (p.Gln331=) |