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 |
|---|---|---|---|---|---|
| 14 | g.49621675_49621700delinsACTCACTTCGAAAAGCCCAGGGAATT | CA2135804490 | MGAT2 | c.407_432delinsACTCACTTCGAAAAGCCCAGGGAATT (p.Asp136=) | |
| 14 | g.49621676_49621700del | CA7172542 | MGAT2 | c.408_432del (p.Asp136GlufsTer20) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621696del | CA2624726674 | MGAT2 | c.428del (p.Gly143GlufsTer21) | gnomAD v4 |
| 14 | g.49621695G>A | CA389618949 | MGAT2 | c.427G>A (p.Gly143Arg) | |
| 14 | g.49621695G>C | CA389618951 | MGAT2 | c.427G>C (p.Gly143Arg) | |
| 14 | g.49621695G>T | CA389618952 | MGAT2 | c.427G>T (p.Gly143Ter) | |
| 14 | g.49621696G>A | CA389618955 | MGAT2 | c.428G>A (p.Gly143Glu) | gnomAD v4 |
| 14 | g.49621696G>C | CA389618956 | MGAT2 | c.428G>C (p.Gly143Ala) | |
| 14 | g.49621696G= | CA2135804526 | MGAT2 | c.428G= (p.Gly143=) | |
| 14 | g.49621696G>T | CA389618958 | MGAT2 | c.428G>T (p.Gly143Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621697A= | CA2135804529 | MGAT2 | c.429A= (p.Gly143=) | |
| 14 | g.49621697A>C | CA486349927 | MGAT2 | c.429A>C (p.Gly143=) | |
| 14 | g.49621697A>G | CA486349929 | MGAT2 | c.429A>G (p.Gly143=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621697A>T | CA486349931 | MGAT2 | c.429A>T (p.Gly143=) | |
| 14 | g.49621698A>C | CA389618963 | MGAT2 | c.430A>C (p.Ile144Leu) | |
| 14 | g.49621698A>G | CA389618962 | MGAT2 | c.430A>G (p.Ile144Val) | gnomAD v4 |
| 14 | g.49621698A>T | CA389618960 | MGAT2 | c.430A>T (p.Ile144Phe) | |
| 14 | g.49621699T>A | CA389618965 | MGAT2 | c.431T>A (p.Ile144Asn) | gnomAD v4 |
| 14 | g.49621699T>C | CA389618967 | MGAT2 | c.431T>C (p.Ile144Thr) | |
| 14 | g.49621699T>G | CA389618969 | MGAT2 | c.431T>G (p.Ile144Ser) | |
| 14 | g.49621700T>A | CA486349936 | MGAT2 | c.432T>A (p.Ile144=) | |
| 14 | g.49621700T>C | CA486349935 | MGAT2 | c.432T>C (p.Ile144=) | |
| 14 | g.49621700T>G | CA389618971 | MGAT2 | c.432T>G (p.Ile144Met) | |
| 14 | g.49621701G>A | CA389618973 | MGAT2 | c.433G>A (p.Asp145Asn) | gnomAD v4 |
| 14 | g.49621701G>C | CA389618975 | MGAT2 | c.433G>C (p.Asp145His) | |
| 14 | g.49621701G>T | CA389618977 | MGAT2 | c.433G>T (p.Asp145Tyr) | |
| 14 | g.49621702A>C | CA389618979 | MGAT2 | c.434A>C (p.Asp145Ala) | |
| 14 | g.49621702A>G | CA389618981 | MGAT2 | c.434A>G (p.Asp145Gly) | |
| 14 | g.49621702A>T | CA389618983 | MGAT2 | c.434A>T (p.Asp145Val) | |
| 14 | g.49621703C>A | CA389618985 | MGAT2 | c.435C>A (p.Asp145Glu) | |
| 14 | g.49621703C>G | CA389618987 | MGAT2 | c.435C>G (p.Asp145Glu) | |
| 14 | g.49621703C>T | CA486349941 | MGAT2 | c.435C>T (p.Asp145=) | gnomAD v4 |
| 14 | g.49621704A= | CA2135804533 | MGAT2 | c.436A= (p.Asn146=) | |
| 14 | g.49621704A>C | CA389618991 | MGAT2 | c.436A>C (p.Asn146His) | |
| 14 | g.49621704A>G | CA7172546 | MGAT2 | c.436A>G (p.Asn146Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621704A>T | CA389618989 | MGAT2 | c.436A>T (p.Asn146Tyr) | |
| 14 | g.49621705A= | CA2135804535 | MGAT2 | c.437A= (p.Asn146=) | |
| 14 | g.49621705A>C | CA389618994 | MGAT2 | c.437A>C (p.Asn146Thr) | dbSNP gnomAD v4 |
| 14 | g.49621705A>G | CA7172547 | MGAT2 | c.437A>G (p.Asn146Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621705A>T | CA389618997 | MGAT2 | c.437A>T (p.Asn146Ile) | |
| 14 | g.49621706C>A | CA389618999 | MGAT2 | c.438C>A (p.Asn146Lys) | |
| 14 | g.49621706C= | CA2135804539 | MGAT2 | c.438C= (p.Asn146=) | |
| 14 | g.49621706C>G | CA389619001 | MGAT2 | c.438C>G (p.Asn146Lys) | |
| 14 | g.49621706C>T | CA7172548 | MGAT2 | c.438C>T (p.Asn146=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621707G>A | CA389619003 | MGAT2 | c.439G>A (p.Val147Ile) | dbSNP gnomAD v4 |
| 14 | g.49621707G>C | CA389619006 | MGAT2 | c.439G>C (p.Val147Leu) | dbSNP gnomAD v4 |
| 14 | g.49621707G= | CA2135804544 | MGAT2 | c.439G= (p.Val147=) | |
| 14 | g.49621707G>T | CA389619007 | MGAT2 | c.439G>T (p.Val147Phe) | |
| 14 | g.49621708T>A | CA389619010 | MGAT2 | c.440T>A (p.Val147Asp) | |
| 14 | g.49621708T>C | CA389619012 | MGAT2 | c.440T>C (p.Val147Ala) | |
| 14 | g.49621708T>G | CA389619013 | MGAT2 | c.440T>G (p.Val147Gly) | |
| 14 | g.49621709C>A | CA486349953 | MGAT2 | c.441C>A (p.Val147=) | gnomAD v4 |
| 14 | g.49621709C>G | CA486349954 | MGAT2 | c.441C>G (p.Val147=) | |
| 14 | g.49621709C>T | CA486349955 | MGAT2 | c.441C>T (p.Val147=) | |
| 14 | g.49621710C>A | CA389619018 | MGAT2 | c.442C>A (p.Leu148Ile) | gnomAD v4 |
| 14 | g.49621710C= | CA2135804546 | MGAT2 | c.442C= (p.Leu148=) | |
| 14 | g.49621710C>G | CA389619016 | MGAT2 | c.442C>G (p.Leu148Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621710C>T | CA260660659 | MGAT2 | c.442C>T (p.Leu148Phe) | dbSNP |
| 14 | g.49621711T>A | CA389619019 | MGAT2 | c.443T>A (p.Leu148His) | |
| 14 | g.49621711T>C | CA389619023 | MGAT2 | c.443T>C (p.Leu148Pro) | |
| 14 | g.49621711T>G | CA389619022 | MGAT2 | c.443T>G (p.Leu148Arg) | |
| 14 | g.49621712C>A | CA486349958 | MGAT2 | c.444C>A (p.Leu148=) | |
| 14 | g.49621712C>G | CA486349959 | MGAT2 | c.444C>G (p.Leu148=) | gnomAD v4 |
| 14 | g.49621712C>T | CA486349960 | MGAT2 | c.444C>T (p.Leu148=) | gnomAD v4 |
| 14 | g.49621713G>A | CA7172549 | MGAT2 | c.445G>A (p.Val149Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621713G>C | CA389619026 | MGAT2 | c.445G>C (p.Val149Leu) | |
| 14 | g.49621713G= | CA2135804550 | MGAT2 | c.445G= (p.Val149=) | |
| 14 | g.49621713G>T | CA389619028 | MGAT2 | c.445G>T (p.Val149Phe) | |
| 14 | g.49621714T>A | CA389619030 | MGAT2 | c.446T>A (p.Val149Asp) | |
| 14 | g.49621714T>C | CA389619032 | MGAT2 | c.446T>C (p.Val149Ala) | |
| 14 | g.49621714T>G | CA389619034 | MGAT2 | c.446T>G (p.Val149Gly) | |
| 14 | g.49621715C>A | CA486349967 | MGAT2 | c.447C>A (p.Val149=) | |
| 14 | g.49621715C>G | CA486349966 | MGAT2 | c.447C>G (p.Val149=) | |
| 14 | g.49621715C>T | CA486349965 | MGAT2 | c.447C>T (p.Val149=) | |
| 14 | g.49621716A>C | CA389619036 | MGAT2 | c.448A>C (p.Ile150Leu) | |
| 14 | g.49621716A>G | CA389619038 | MGAT2 | c.448A>G (p.Ile150Val) | gnomAD v4 |
| 14 | g.49621716A>T | CA389619039 | MGAT2 | c.448A>T (p.Ile150Phe) | |
| 14 | g.49621717T>A | CA389619042 | MGAT2 | c.449T>A (p.Ile150Asn) | |
| 14 | g.49621717T>C | CA389619044 | MGAT2 | c.449T>C (p.Ile150Thr) | |
| 14 | g.49621717T>G | CA389619045 | MGAT2 | c.449T>G (p.Ile150Ser) | |
| 14 | g.49621718C>A | CA486349971 | MGAT2 | c.450C>A (p.Ile150=) | |
| 14 | g.49621718C>G | CA389619047 | MGAT2 | c.450C>G (p.Ile150Met) | |
| 14 | g.49621718C>T | CA486349973 | MGAT2 | c.450C>T (p.Ile150=) | |
| 14 | g.49621719T>A | CA389619049 | MGAT2 | c.451T>A (p.Phe151Ile) | |
| 14 | g.49621719T>C | CA389619051 | MGAT2 | c.451T>C (p.Phe151Leu) | |
| 14 | g.49621719T>G | CA389619053 | MGAT2 | c.451T>G (p.Phe151Val) | gnomAD v4 |
| 14 | g.49621720T>A | CA389619056 | MGAT2 | c.452T>A (p.Phe151Tyr) | |
| 14 | g.49621720T>C | CA389619058 | MGAT2 | c.452T>C (p.Phe151Ser) | |
| 14 | g.49621720T>G | CA389619059 | MGAT2 | c.452T>G (p.Phe151Cys) | |
| 14 | g.49621721T>A | CA389619061 | MGAT2 | c.453T>A (p.Phe151Leu) | |
| 14 | g.49621721T>C | CA486349978 | MGAT2 | c.453T>C (p.Phe151=) | gnomAD v4 |
| 14 | g.49621721T>G | CA389619063 | MGAT2 | c.453T>G (p.Phe151Leu) | |
| 14 | g.49621722A>C | CA389619065 | MGAT2 | c.454A>C (p.Ser152Arg) | |
| 14 | g.49621722A>G | CA389619066 | MGAT2 | c.454A>G (p.Ser152Gly) | |
| 14 | g.49621722A>T | CA389619068 | MGAT2 | c.454A>T (p.Ser152Cys) | |
| 14 | g.49621723G>A | CA389619071 | MGAT2 | c.455G>A (p.Ser152Asn) | |
| 14 | g.49621723G>C | CA389619072 | MGAT2 | c.455G>C (p.Ser152Thr) | |
| 14 | g.49621723G>T | CA389619074 | MGAT2 | c.455G>T (p.Ser152Ile) | gnomAD v4 |
| 14 | g.49621724C>A | CA389619077 | MGAT2 | c.456C>A (p.Ser152Arg) | |
| 14 | g.49621724C= | CA2135804553 | MGAT2 | c.456C= (p.Ser152=) | |
| 14 | g.49621724C>G | CA389619079 | MGAT2 | c.456C>G (p.Ser152Arg) | |
| 14 | g.49621724C>T | CA7172550 | MGAT2 | c.456C>T (p.Ser152=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621725C>A | CA389619081 | MGAT2 | c.457C>A (p.His153Asn) | |
| 14 | g.49621725C= | CA2135804557 | MGAT2 | c.457C= (p.His153=) | |
| 14 | g.49621725C>G | CA389619082 | MGAT2 | c.457C>G (p.His153Asp) | |
| 14 | g.49621725C>T | CA260660664 | MGAT2 | c.457C>T (p.His153Tyr) | dbSNP |
| 14 | g.49621726A= | CA2135804560 | MGAT2 | c.458A= (p.His153=) | |
| 14 | g.49621726A>C | CA389619085 | MGAT2 | c.458A>C (p.His153Pro) | |
| 14 | g.49621726A>G | CA7172551 | MGAT2 | c.458A>G (p.His153Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.49621726A>T | CA7172552 | MGAT2 | c.458A>T (p.His153Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621727T>A | CA389619089 | MGAT2 | c.459T>A (p.His153Gln) | |
| 14 | g.49621727T>C | CA486349991 | MGAT2 | c.459T>C (p.His153=) | |
| 14 | g.49621727T>G | CA389619090 | MGAT2 | c.459T>G (p.His153Gln) | |
| 14 | g.49621728G>A | CA389619092 | MGAT2 | c.460G>A (p.Asp154Asn) | |
| 14 | g.49621728G>C | CA389619093 | MGAT2 | c.460G>C (p.Asp154His) | |
| 14 | g.49621728G>T | CA389619094 | MGAT2 | c.460G>T (p.Asp154Tyr) | |
| 14 | g.49621729A= | CA2135804565 | MGAT2 | c.461A= (p.Asp154=) | |
| 14 | g.49621729A>C | CA389619096 | MGAT2 | c.461A>C (p.Asp154Ala) | |
| 14 | g.49621729A>G | CA389619097 | MGAT2 | c.461A>G (p.Asp154Gly) | dbSNP |
| 14 | g.49621729A>T | CA7172553 | MGAT2 | c.461A>T (p.Asp154Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621730C>A | CA389619100 | MGAT2 | c.462C>A (p.Asp154Glu) | |
| 14 | g.49621730C= | CA2135804567 | MGAT2 | c.462C= (p.Asp154=) | |
| 14 | g.49621730C>G | CA389619102 | MGAT2 | c.462C>G (p.Asp154Glu) | dbSNP |
| 14 | g.49621730C>T | CA486349997 | MGAT2 | c.462C>T (p.Asp154=) | |
| 14 | g.49621731T>A | CA7172554 | MGAT2 | c.463T>A (p.Phe155Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621731T>C | CA260660671 | MGAT2 | c.463T>C (p.Phe155Leu) | dbSNP |
| 14 | g.49621731T>G | CA389619106 | MGAT2 | c.463T>G (p.Phe155Val) | |
| 14 | g.49621731T= | CA2135804569 | MGAT2 | c.463T= (p.Phe155=) | |
| 14 | g.49621732T>A | CA389619108 | MGAT2 | c.464T>A (p.Phe155Tyr) | |
| 14 | g.49621732T>C | CA389619110 | MGAT2 | c.464T>C (p.Phe155Ser) | |
| 14 | g.49621732T>G | CA389619111 | MGAT2 | c.464T>G (p.Phe155Cys) | |
| 14 | g.49621733C>A | CA389619113 | MGAT2 | c.465C>A (p.Phe155Leu) | |
| 14 | g.49621733C>G | CA389619115 | MGAT2 | c.465C>G (p.Phe155Leu) | gnomAD v4 COSMIC |
| 14 | g.49621733C>T | CA486350003 | MGAT2 | c.465C>T (p.Phe155=) | |
| 14 | g.49621734T>A | CA389619117 | MGAT2 | c.466T>A (p.Trp156Arg) | |
| 14 | g.49621734T>C | CA389619119 | MGAT2 | c.466T>C (p.Trp156Arg) | gnomAD v4 |
| 14 | g.49621734T>G | CA389619121 | MGAT2 | c.466T>G (p.Trp156Gly) | |
| 14 | g.49621735G>A | CA389619123 | MGAT2 | c.467G>A (p.Trp156Ter) | |
| 14 | g.49621735G>C | CA389619126 | MGAT2 | c.467G>C (p.Trp156Ser) | |
| 14 | g.49621735G= | CA2135804572 | MGAT2 | c.467G= (p.Trp156=) | |
| 14 | g.49621735G>T | CA260660676 | MGAT2 | c.467G>T (p.Trp156Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621736G>A | CA389619127 | MGAT2 | c.468G>A (p.Trp156Ter) | |
| 14 | g.49621736G>C | CA389619131 | MGAT2 | c.468G>C (p.Trp156Cys) | |
| 14 | g.49621736G>T | CA389619129 | MGAT2 | c.468G>T (p.Trp156Cys) | |
| 14 | g.49621737T>A | CA389619132 | MGAT2 | c.469T>A (p.Ser157Thr) | |
| 14 | g.49621737T>C | CA389619134 | MGAT2 | c.469T>C (p.Ser157Pro) | |
| 14 | g.49621737T>G | CA389619136 | MGAT2 | c.469T>G (p.Ser157Ala) | |
| 14 | g.49621738C>A | CA389619138 | MGAT2 | c.470C>A (p.Ser157Ter) | |
| 14 | g.49621738C= | CA2135804576 | MGAT2 | c.470C= (p.Ser157=) | |
| 14 | g.49621738C>G | CA389619140 | MGAT2 | c.470C>G (p.Ser157Trp) | |
| 14 | g.49621738C>T | CA389619141 | MGAT2 | c.470C>T (p.Ser157Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49621739G>A | CA486350009 | MGAT2 | c.471G>A (p.Ser157=) | |
| 14 | g.49621739G>C | CA486350010 | MGAT2 | c.471G>C (p.Ser157=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621739G= | CA2135804577 | MGAT2 | c.471G= (p.Ser157=) | |
| 14 | g.49621739G>T | CA486350011 | MGAT2 | c.471G>T (p.Ser157=) | gnomAD v4 |
| 14 | g.49621740A>C | CA389619143 | MGAT2 | c.472A>C (p.Thr158Pro) | |
| 14 | g.49621740A>G | CA389619145 | MGAT2 | c.472A>G (p.Thr158Ala) | |
| 14 | g.49621740A>T | CA389619146 | MGAT2 | c.472A>T (p.Thr158Ser) | |
| 14 | g.49621741C>A | CA389619149 | MGAT2 | c.473C>A (p.Thr158Asn) | |
| 14 | g.49621741C>G | CA389619150 | MGAT2 | c.473C>G (p.Thr158Ser) | |
| 14 | g.49621741C>T | CA389619152 | MGAT2 | c.473C>T (p.Thr158Ile) | gnomAD v4 |
| 14 | g.49621742C>A | CA486350014 | MGAT2 | c.474C>A (p.Thr158=) | |
| 14 | g.49621742C= | CA2135804579 | MGAT2 | c.474C= (p.Thr158=) | |
| 14 | g.49621742C>G | CA7172555 | MGAT2 | c.474C>G (p.Thr158=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621742C>T | CA486350016 | MGAT2 | c.474C>T (p.Thr158=) | |
| 14 | g.49621743G>A | CA389619159 | MGAT2 | c.475G>A (p.Glu159Lys) | dbSNP |
| 14 | g.49621743G>C | CA389619157 | MGAT2 | c.475G>C (p.Glu159Gln) | |
| 14 | g.49621743G= | CA2135804581 | MGAT2 | c.475G= (p.Glu159=) | |
| 14 | g.49621743G>T | CA389619155 | MGAT2 | c.475G>T (p.Glu159Ter) | |
| 14 | g.49621744A= | CA2135804585 | MGAT2 | c.476A= (p.Glu159=) | |
| 14 | g.49621744A>C | CA389619161 | MGAT2 | c.476A>C (p.Glu159Ala) | |
| 14 | g.49621744A>G | CA389619163 | MGAT2 | c.476A>G (p.Glu159Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621744A>T | CA389619165 | MGAT2 | c.476A>T (p.Glu159Val) | |
| 14 | g.49621745G>A | CA7172556 | MGAT2 | c.477G>A (p.Glu159=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621745G>C | CA389619167 | MGAT2 | c.477G>C (p.Glu159Asp) | |
| 14 | g.49621745G= | CA2135804587 | MGAT2 | c.477G= (p.Glu159=) | |
| 14 | g.49621745G>T | CA389619169 | MGAT2 | c.477G>T (p.Glu159Asp) | |
| 14 | g.49621745_49621749delinsGATCA | CA2135804590 | MGAT2 | c.477_481delinsGATCA (p.Glu159=) | |
| 14 | g.49621746A>C | CA389619171 | MGAT2 | c.478A>C (p.Ile160Leu) | |
| 14 | g.49621746A>G | CA389619173 | MGAT2 | c.478A>G (p.Ile160Val) | |
| 14 | g.49621746A>T | CA389619175 | MGAT2 | c.478A>T (p.Ile160Phe) | |
| 14 | g.49621750_49621753del | CA2135804594 | MGAT2 | c.482_485del (p.Asn161SerfsTer2) | dbSNP |
| 14 | g.49621747T>A | CA389619177 | MGAT2 | c.479T>A (p.Ile160Asn) | |
| 14 | g.49621747T>C | CA389619179 | MGAT2 | c.479T>C (p.Ile160Thr) | |
| 14 | g.49621747T>G | CA389619181 | MGAT2 | c.479T>G (p.Ile160Ser) | gnomAD v4 |
| 14 | g.49621748C>A | CA486350021 | MGAT2 | c.480C>A (p.Ile160=) | |
| 14 | g.49621748C>G | CA389619182 | MGAT2 | c.480C>G (p.Ile160Met) | |
| 14 | g.49621748C>T | CA486350023 | MGAT2 | c.480C>T (p.Ile160=) | |
| 14 | g.49621749A>C | CA389619188 | MGAT2 | c.481A>C (p.Asn161His) | dbSNP |
| 14 | g.49621749A>G | CA389619186 | MGAT2 | c.481A>G (p.Asn161Asp) | |
| 14 | g.49621749A>T | CA389619184 | MGAT2 | c.481A>T (p.Asn161Tyr) | |
| 14 | g.49621750A= | CA2135804595 | MGAT2 | c.482A= (p.Asn161=) | |
| 14 | g.49621750A>C | CA389619190 | MGAT2 | c.482A>C (p.Asn161Thr) | |
| 14 | g.49621750A>G | CA389619192 | MGAT2 | c.482A>G (p.Asn161Ser) | dbSNP gnomAD v4 |
| 14 | g.49621750A>T | CA389619194 | MGAT2 | c.482A>T (p.Asn161Ile) | |
| 14 | g.49621751T>A | CA389619196 | MGAT2 | c.483T>A (p.Asn161Lys) | |
| 14 | g.49621751T>C | CA486350029 | MGAT2 | c.483T>C (p.Asn161=) | dbSNP |
| 14 | g.49621751T>G | CA7172557 | MGAT2 | c.483T>G (p.Asn161Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621751T= | CA2135804597 | MGAT2 | c.483T= (p.Asn161=) | |
| 14 | g.49621752C>A | CA389619199 | MGAT2 | c.484C>A (p.Gln162Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49621752C= | CA2135804599 | MGAT2 | c.484C= (p.Gln162=) | |
| 14 | g.49621752C>G | CA389619201 | MGAT2 | c.484C>G (p.Gln162Glu) | |
| 14 | g.49621752C>T | CA389619202 | MGAT2 | c.484C>T (p.Gln162Ter) | |
| 14 | g.49621753A>C | CA389619204 | MGAT2 | c.485A>C (p.Gln162Pro) | |
| 14 | g.49621753A>G | CA389619206 | MGAT2 | c.485A>G (p.Gln162Arg) | COSMIC |
| 14 | g.49621753A>T | CA389619208 | MGAT2 | c.485A>T (p.Gln162Leu) | |
| 14 | g.49621754G>A | CA486350037 | MGAT2 | c.486G>A (p.Gln162=) | |
| 14 | g.49621754G>C | CA389619210 | MGAT2 | c.486G>C (p.Gln162His) | gnomAD v4 |
| 14 | g.49621754G>T | CA389619212 | MGAT2 | c.486G>T (p.Gln162His) | |
| 14 | g.49621755C>A | CA389619215 | MGAT2 | c.487C>A (p.Leu163Met) | |
| 14 | g.49621755C>G | CA389619213 | MGAT2 | c.487C>G (p.Leu163Val) | |
| 14 | g.49621755C>T | CA486350040 | MGAT2 | c.487C>T (p.Leu163=) | |
| 14 | g.49621756T>A | CA7172558 | MGAT2 | c.488T>A (p.Leu163Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621756T>C | CA389619218 | MGAT2 | c.488T>C (p.Leu163Pro) | |
| 14 | g.49621756T>G | CA389619219 | MGAT2 | c.488T>G (p.Leu163Arg) | |
| 14 | g.49621756T= | CA2135804602 | MGAT2 | c.488T= (p.Leu163=) | |
| 14 | g.49621757G>A | CA486350043 | MGAT2 | c.489G>A (p.Leu163=) | |
| 14 | g.49621757G>C | CA486350046 | MGAT2 | c.489G>C (p.Leu163=) | |
| 14 | g.49621757G>T | CA486350045 | MGAT2 | c.489G>T (p.Leu163=) | |
| 14 | g.49621758_49621764dup | CA2530660219 | MGAT2 | c.490_496dup (p.Gly166AspfsTer23) | |
| 14 | g.49621758A= | CA2135804605 | MGAT2 | c.490A= (p.Ile164=) | |
| 14 | g.49621758A>C | CA389619222 | MGAT2 | c.490A>C (p.Ile164Leu) | |
| 14 | g.49621758A>G | CA389619224 | MGAT2 | c.490A>G (p.Ile164Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621758A>T | CA389619225 | MGAT2 | c.490A>T (p.Ile164Phe) | |
| 14 | g.49621759T>A | CA389619227 | MGAT2 | c.491T>A (p.Ile164Asn) | |
| 14 | g.49621759T>C | CA389619228 | MGAT2 | c.491T>C (p.Ile164Thr) | |
| 14 | g.49621759T>G | CA389619230 | MGAT2 | c.491T>G (p.Ile164Ser) | |
| 14 | g.49621760C>A | CA486350051 | MGAT2 | c.492C>A (p.Ile164=) | |
| 14 | g.49621760C>G | CA389619232 | MGAT2 | c.492C>G (p.Ile164Met) | |
| 14 | g.49621760C>T | CA486350055 | MGAT2 | c.492C>T (p.Ile164=) | COSMIC |
| 14 | g.49621761G>A | CA389619234 | MGAT2 | c.493G>A (p.Ala165Thr) | |
| 14 | g.49621761G>C | CA389619235 | MGAT2 | c.493G>C (p.Ala165Pro) | gnomAD v4 |
| 14 | g.49621761G= | CA2135804607 | MGAT2 | c.493G= (p.Ala165=) | |
| 14 | g.49621761G>T | CA389619236 | MGAT2 | c.493G>T (p.Ala165Ser) | dbSNP |
| 14 | g.49621762C>A | CA389619238 | MGAT2 | c.494C>A (p.Ala165Asp) | |
| 14 | g.49621762C>G | CA389619242 | MGAT2 | c.494C>G (p.Ala165Gly) | gnomAD v4 |
| 14 | g.49621762C>T | CA389619240 | MGAT2 | c.494C>T (p.Ala165Val) | |
| 14 | g.49621763C>A | CA486350064 | MGAT2 | c.495C>A (p.Ala165=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621763C= | CA2135804609 | MGAT2 | c.495C= (p.Ala165=) | |
| 14 | g.49621763C>G | CA486350067 | MGAT2 | c.495C>G (p.Ala165=) | gnomAD v3 gnomAD v4 |
| 14 | g.49621763C>T | CA7172559 | MGAT2 | c.495C>T (p.Ala165=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621764G>A | CA7172561 | MGAT2 | c.496G>A (p.Gly166Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621764G>C | CA389619245 | MGAT2 | c.496G>C (p.Gly166Arg) | |
| 14 | g.49621764G= | CA2135804612 | MGAT2 | c.496G= (p.Gly166=) | |
| 14 | g.49621764G>T | CA7172560 | MGAT2 | c.496G>T (p.Gly166Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621767dup | CA2135804613 | MGAT2 | c.499dup (p.Val167GlyfsTer20) | dbSNP |
| 14 | g.49621767del | CA2553065471 | MGAT2 | c.499del (p.Val167Ter) | gnomAD v4 |
| 14 | g.49621765G>A | CA389619255 | MGAT2 | c.497G>A (p.Gly166Glu) | |
| 14 | g.49621765G>C | CA389619257 | MGAT2 | c.497G>C (p.Gly166Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49621765G= | CA2135804617 | MGAT2 | c.497G= (p.Gly166=) | |
| 14 | g.49621765G>T | CA389619259 | MGAT2 | c.497G>T (p.Gly166Val) | dbSNP |
| 14 | g.49621766G>A | CA486350076 | MGAT2 | c.498G>A (p.Gly166=) | dbSNP |
| 14 | g.49621766G>C | CA486350078 | MGAT2 | c.498G>C (p.Gly166=) | |
| 14 | g.49621766G>T | CA486350079 | MGAT2 | c.498G>T (p.Gly166=) | gnomAD v4 COSMIC |
| 14 | g.49621767G>A | CA389619261 | MGAT2 | c.499G>A (p.Val167Met) | |
| 14 | g.49621767G>C | CA389619263 | MGAT2 | c.499G>C (p.Val167Leu) | |
| 14 | g.49621767G= | CA2135804620 | MGAT2 | c.499G= (p.Val167=) | |
| 14 | g.49621767G>T | CA389619264 | MGAT2 | c.499G>T (p.Val167Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621768T>A | CA389619266 | MGAT2 | c.500T>A (p.Val167Glu) | |
| 14 | g.49621768T>C | CA389619267 | MGAT2 | c.500T>C (p.Val167Ala) | |
| 14 | g.49621768T>G | CA389619269 | MGAT2 | c.500T>G (p.Val167Gly) | dbSNP |
| 14 | g.49621768T= | CA2135804624 | MGAT2 | c.500T= (p.Val167=) | |
| 14 | g.49621769G>A | CA486350082 | MGAT2 | c.501G>A (p.Val167=) | |
| 14 | g.49621769G>C | CA486350083 | MGAT2 | c.501G>C (p.Val167=) | |
| 14 | g.49621769G>T | CA486350085 | MGAT2 | c.501G>T (p.Val167=) | |
| 14 | g.49621770A>C | CA389619274 | MGAT2 | c.502A>C (p.Asn168His) | |
| 14 | g.49621770A>G | CA389619271 | MGAT2 | c.502A>G (p.Asn168Asp) | |
| 14 | g.49621770A>T | CA389619272 | MGAT2 | c.502A>T (p.Asn168Tyr) | |
| 14 | g.49621771A>C | CA389619276 | MGAT2 | c.503A>C (p.Asn168Thr) | |
| 14 | g.49621771A>G | CA389619278 | MGAT2 | c.503A>G (p.Asn168Ser) | |
| 14 | g.49621771A>T | CA389619280 | MGAT2 | c.503A>T (p.Asn168Ile) | |
| 14 | g.49621772T>A | CA389619282 | MGAT2 | c.504T>A (p.Asn168Lys) | |
| 14 | g.49621772T>C | CA486350088 | MGAT2 | c.504T>C (p.Asn168=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49621772T>G | CA389619284 | MGAT2 | c.504T>G (p.Asn168Lys) | |
| 14 | g.49621772T= | CA2135804625 | MGAT2 | c.504T= (p.Asn168=) | |
| 14 | g.49621773T>A | CA389619286 | MGAT2 | c.505T>A (p.Phe169Ile) | |
| 14 | g.49621773T>C | CA389619288 | MGAT2 | c.505T>C (p.Phe169Leu) | |
| 14 | g.49621773T>G | CA389619289 | MGAT2 | c.505T>G (p.Phe169Val) | |
| 14 | g.49621774T>A | CA389619290 | MGAT2 | c.506T>A (p.Phe169Tyr) | |
| 14 | g.49621774T>C | CA389619292 | MGAT2 | c.506T>C (p.Phe169Ser) | |
| 14 | g.49621774T>G | CA389619294 | MGAT2 | c.506T>G (p.Phe169Cys) | |
| 14 | g.49621776_49621779del | CA2624726675 | MGAT2 | c.508_511del (p.Cys170ArgfsTer?) | gnomAD v4 |
| 14 | g.49621775C>A | CA389619298 | MGAT2 | c.507C>A (p.Phe169Leu) | |
| 14 | g.49621775C>G | CA389619296 | MGAT2 | c.507C>G (p.Phe169Leu) | |
| 14 | g.49621775C>T | CA486350093 | MGAT2 | c.507C>T (p.Phe169=) | COSMIC |
| 14 | g.49621776T>A | CA389619301 | MGAT2 | c.508T>A (p.Cys170Ser) | |
| 14 | g.49621776T>C | CA389619302 | MGAT2 | c.508T>C (p.Cys170Arg) | |
| 14 | g.49621776T>G | CA389619305 | MGAT2 | c.508T>G (p.Cys170Gly) | |
| 14 | g.49621777G>A | CA7172562 | MGAT2 | c.509G>A (p.Cys170Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621777G>C | CA389619307 | MGAT2 | c.509G>C (p.Cys170Ser) | dbSNP gnomAD v4 |
| 14 | g.49621777G= | CA2135804627 | MGAT2 | c.509G= (p.Cys170=) | |
| 14 | g.49621777G>T | CA389619308 | MGAT2 | c.509G>T (p.Cys170Phe) | |
| 14 | g.49621778T>A | CA389619311 | MGAT2 | c.510T>A (p.Cys170Ter) | COSMIC |
| 14 | g.49621778T>C | CA486350103 | MGAT2 | c.510T>C (p.Cys170=) | |
| 14 | g.49621778T>G | CA389619310 | MGAT2 | c.510T>G (p.Cys170Trp) | |
| 14 | g.49621779C>A | CA389619314 | MGAT2 | c.511C>A (p.Pro171Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621779C= | CA2135804630 | MGAT2 | c.511C= (p.Pro171=) | |
| 14 | g.49621779C>G | CA389619315 | MGAT2 | c.511C>G (p.Pro171Ala) | |
| 14 | g.49621779C>T | CA389619316 | MGAT2 | c.511C>T (p.Pro171Ser) | |
| 14 | g.49621780C>A | CA389619319 | MGAT2 | c.512C>A (p.Pro171Gln) | |
| 14 | g.49621780C= | CA2135804633 | MGAT2 | c.512C= (p.Pro171=) | |
| 14 | g.49621780C>G | CA260660696 | MGAT2 | c.512C>G (p.Pro171Arg) | dbSNP |
| 14 | g.49621780C>T | CA389619321 | MGAT2 | c.512C>T (p.Pro171Leu) | gnomAD v4 |
| 14 | g.49621781G>A | CA486350120 | MGAT2 | c.513G>A (p.Pro171=) | |
| 14 | g.49621781G>C | CA486350119 | MGAT2 | c.513G>C (p.Pro171=) | gnomAD v4 |
| 14 | g.49621781G>T | CA486350118 | MGAT2 | c.513G>T (p.Pro171=) | gnomAD v4 COSMIC |
| 14 | g.49621782del | CA2801518199 | MGAT2 | c.514del (p.Val172PhefsTer?) | |
| 14 | g.49621782G>A | CA7172563 | MGAT2 | c.514G>A (p.Val172Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621782G>C | CA389619326 | MGAT2 | c.514G>C (p.Val172Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49621782G= | CA2135804636 | MGAT2 | c.514G= (p.Val172=) | |
| 14 | g.49621782G>T | CA389619324 | MGAT2 | c.514G>T (p.Val172Phe) | COSMIC |
| 14 | g.49621783T>A | CA389619327 | MGAT2 | c.515T>A (p.Val172Asp) | |
| 14 | g.49621783T>C | CA7172564 | MGAT2 | c.515T>C (p.Val172Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621783T>G | CA389619328 | MGAT2 | c.515T>G (p.Val172Gly) | |
| 14 | g.49621783T= | CA2135804640 | MGAT2 | c.515T= (p.Val172=) | |
| 14 | g.49621784T>A | CA486350124 | MGAT2 | c.516T>A (p.Val172=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621784T>C | CA486350128 | MGAT2 | c.516T>C (p.Val172=) | |
| 14 | g.49621784T>G | CA486350127 | MGAT2 | c.516T>G (p.Val172=) | |
| 14 | g.49621784T= | CA2135804641 | MGAT2 | c.516T= (p.Val172=) | |
| 14 | g.49621785C>A | CA7172565 | MGAT2 | c.517C>A (p.Leu173Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621785C= | CA2135804643 | MGAT2 | c.517C= (p.Leu173=) | |
| 14 | g.49621785C>G | CA389619329 | MGAT2 | c.517C>G (p.Leu173Val) | |
| 14 | g.49621785C>T | CA486350130 | MGAT2 | c.517C>T (p.Leu173=) | gnomAD v4 |
| 14 | g.49621786T>A | CA389619330 | MGAT2 | c.518T>A (p.Leu173Gln) | |
| 14 | g.49621786T>C | CA389619331 | MGAT2 | c.518T>C (p.Leu173Pro) | |
| 14 | g.49621786T>G | CA389619332 | MGAT2 | c.518T>G (p.Leu173Arg) | |
| 14 | g.49621787G>A | CA486350131 | MGAT2 | c.519G>A (p.Leu173=) | gnomAD v4 |
| 14 | g.49621787G>C | CA486350132 | MGAT2 | c.519G>C (p.Leu173=) | |
| 14 | g.49621787G>T | CA486350134 | MGAT2 | c.519G>T (p.Leu173=) | |
| 14 | g.49621788C>A | CA389619333 | MGAT2 | c.520C>A (p.Gln174Lys) | |
| 14 | g.49621788C>G | CA389619334 | MGAT2 | c.520C>G (p.Gln174Glu) | |
| 14 | g.49621788C>T | CA389619335 | MGAT2 | c.520C>T (p.Gln174Ter) | |
| 14 | g.49621789A>C | CA389619337 | MGAT2 | c.521A>C (p.Gln174Pro) | |
| 14 | g.49621789A>G | CA389619338 | MGAT2 | c.521A>G (p.Gln174Arg) | |
| 14 | g.49621789A>T | CA389619336 | MGAT2 | c.521A>T (p.Gln174Leu) | |
| 14 | g.49621790G>A | CA486350139 | MGAT2 | c.522G>A (p.Gln174=) | |
| 14 | g.49621790G>C | CA389619340 | MGAT2 | c.522G>C (p.Gln174His) | |
| 14 | g.49621790G>T | CA389619339 | MGAT2 | c.522G>T (p.Gln174His) | |
| 14 | g.49621790_49621791del | CA2624726676 | MGAT2 | c.522_523del (p.Gln174HisfsTer12) | gnomAD v4 |
| 14 | g.49621791G>A | CA389619341 | MGAT2 | c.523G>A (p.Val175Met) | |
| 14 | g.49621791G>C | CA389619342 | MGAT2 | c.523G>C (p.Val175Leu) | gnomAD v4 |
| 14 | g.49621791G>T | CA389619343 | MGAT2 | c.523G>T (p.Val175Leu) | |
| 14 | g.49621792T>A | CA389619344 | MGAT2 | c.524T>A (p.Val175Glu) | |
| 14 | g.49621792T>C | CA389619345 | MGAT2 | c.524T>C (p.Val175Ala) | |
| 14 | g.49621792T>G | CA389619346 | MGAT2 | c.524T>G (p.Val175Gly) | |
| 14 | g.49621793G>A | CA486350145 | MGAT2 | c.525G>A (p.Val175=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621793G>C | CA486350148 | MGAT2 | c.525G>C (p.Val175=) | |
| 14 | g.49621793G= | CA2135804644 | MGAT2 | c.525G= (p.Val175=) | |
| 14 | g.49621793G>T | CA486350151 | MGAT2 | c.525G>T (p.Val175=) | |
| 14 | g.49621794T>A | CA389619348 | MGAT2 | c.526T>A (p.Phe176Ile) | |
| 14 | g.49621794T>C | CA389619347 | MGAT2 | c.526T>C (p.Phe176Leu) | |
| 14 | g.49621794T>G | CA260660703 | MGAT2 | c.526T>G (p.Phe176Val) | dbSNP |
| 14 | g.49621794T= | CA2135804646 | MGAT2 | c.526T= (p.Phe176=) | |
| 14 | g.49621794_49621796delinsTTC | CA2135804650 | MGAT2 | c.526_528delinsTTC (p.Phe176=) | |
| 14 | g.49621795T>A | CA389619349 | MGAT2 | c.527T>A (p.Phe176Tyr) | gnomAD v4 |
| 14 | g.49621795T>C | CA389619350 | MGAT2 | c.527T>C (p.Phe176Ser) | gnomAD v4 |
| 14 | g.49621795T>G | CA389619351 | MGAT2 | c.527T>G (p.Phe176Cys) | |
| 14 | g.49621796_49621797del | CA2135804654 | MGAT2 | c.528_529del (p.Phe177SerfsTer9) | dbSNP |