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.49621894_49621895del | CA706480752 | MGAT2 | c.626_627del (p.Gly209ValfsTer5) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49621894G>A | CA389619597 | MGAT2 | c.626G>A (p.Gly209Glu) | |
| 14 | g.49621894G>C | CA389619596 | MGAT2 | c.626G>C (p.Gly209Ala) | |
| 14 | g.49621894G>T | CA389619594 | MGAT2 | c.626G>T (p.Gly209Val) | gnomAD v4 |
| 14 | g.49621895G>A | CA486350354 | MGAT2 | c.627G>A (p.Gly209=) | gnomAD v4 |
| 14 | g.49621895G>C | CA486350355 | MGAT2 | c.627G>C (p.Gly209=) | |
| 14 | g.49621895G>T | CA486350353 | MGAT2 | c.627G>T (p.Gly209=) | |
| 14 | g.49621896T>A | CA389619599 | MGAT2 | c.628T>A (p.Cys210Ser) | |
| 14 | g.49621896T>C | CA389619600 | MGAT2 | c.628T>C (p.Cys210Arg) | |
| 14 | g.49621896T>G | CA389619601 | MGAT2 | c.628T>G (p.Cys210Gly) | |
| 14 | g.49621897G>A | CA389619603 | MGAT2 | c.629G>A (p.Cys210Tyr) | |
| 14 | g.49621897G>C | CA389619605 | MGAT2 | c.629G>C (p.Cys210Ser) | gnomAD v4 |
| 14 | g.49621897G>T | CA389619606 | MGAT2 | c.629G>T (p.Cys210Phe) | |
| 14 | g.49621898C>A | CA389619609 | MGAT2 | c.630C>A (p.Cys210Ter) | |
| 14 | g.49621898C= | CA2135804731 | MGAT2 | c.630C= (p.Cys210=) | |
| 14 | g.49621898C>G | CA389619612 | MGAT2 | c.630C>G (p.Cys210Trp) | |
| 14 | g.49621898C>T | CA486350358 | MGAT2 | c.630C>T (p.Cys210=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621899A= | CA2135804732 | MGAT2 | c.631A= (p.Ile211=) | |
| 14 | g.49621899A>C | CA389619613 | MGAT2 | c.631A>C (p.Ile211Leu) | |
| 14 | g.49621899A>G | CA389619617 | MGAT2 | c.631A>G (p.Ile211Val) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49621899A>T | CA389619616 | MGAT2 | c.631A>T (p.Ile211Phe) | |
| 14 | g.49621900T>A | CA389619619 | MGAT2 | c.632T>A (p.Ile211Asn) | |
| 14 | g.49621900T>C | CA389619620 | MGAT2 | c.632T>C (p.Ile211Thr) | |
| 14 | g.49621900T>G | CA389619622 | MGAT2 | c.632T>G (p.Ile211Ser) | |
| 14 | g.49621901C>A | CA486350361 | MGAT2 | c.633C>A (p.Ile211=) | |
| 14 | g.49621901C>G | CA389619625 | MGAT2 | c.633C>G (p.Ile211Met) | gnomAD v4 |
| 14 | g.49621901C>T | CA486350360 | MGAT2 | c.633C>T (p.Ile211=) | gnomAD v4 COSMIC |
| 14 | g.49621902A>C | CA389619626 | MGAT2 | c.634A>C (p.Asn212His) | |
| 14 | g.49621902A>G | CA389619632 | MGAT2 | c.634A>G (p.Asn212Asp) | |
| 14 | g.49621902A>T | CA389619629 | MGAT2 | c.634A>T (p.Asn212Tyr) | |
| 14 | g.49621902_49621903insC | CA2570222421 | MGAT2 | c.634_635insC (p.Asn212ThrfsTer3) | |
| 14 | g.49621903A= | CA2135804733 | MGAT2 | c.635A= (p.Asn212=) | |
| 14 | g.49621903A>C | CA389619634 | MGAT2 | c.635A>C (p.Asn212Thr) | |
| 14 | g.49621903A>G | CA7172584 | MGAT2 | c.635A>G (p.Asn212Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.49621903A>T | CA389619636 | MGAT2 | c.635A>T (p.Asn212Ile) | gnomAD v4 |
| 14 | g.49621903_49621904insATGAAATGCCTGAACTGGCAGTAGTTTCTGATGATACCTTGATTGAAAAAGTAGTCAAAGCCCAAGATGACCGTCTCTTCTACGTATCAGAAGCTATTCGCCGTGGCTACACACCAGAAGAAAT | CA2563482155 | MGAT2 | c.635_636insATGAAATGCCTGAACTGGCAGTAGTTTCTGATGATACCTTGATTGAAAAAGTAGTCAAAGCCCAAGATGACCGTCTCTTCTACGTATCAGAAGCTATTCGCCGTGGCTACACACCAGAAGAAAT (p.Asn212LysfsTer2) | |
| 14 | g.49621904T>A | CA389619639 | MGAT2 | c.636T>A (p.Asn212Lys) | gnomAD v4 |
| 14 | g.49621904T>C | CA7172585 | MGAT2 | c.636T>C (p.Asn212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621904T>G | CA389619643 | MGAT2 | c.636T>G (p.Asn212Lys) | |
| 14 | g.49621904T= | CA2135804734 | MGAT2 | c.636T= (p.Asn212=) | |
| 14 | g.49621905G>A | CA389619645 | MGAT2 | c.637G>A (p.Ala213Thr) | |
| 14 | g.49621905G>C | CA389619648 | MGAT2 | c.637G>C (p.Ala213Pro) | |
| 14 | g.49621905G>T | CA389619651 | MGAT2 | c.637G>T (p.Ala213Ser) | |
| 14 | g.49621906C>A | CA389619652 | MGAT2 | c.638C>A (p.Ala213Asp) | |
| 14 | g.49621906C= | CA2135804735 | MGAT2 | c.638C= (p.Ala213=) | |
| 14 | g.49621906C>G | CA389619653 | MGAT2 | c.638C>G (p.Ala213Gly) | dbSNP |
| 14 | g.49621906C>T | CA389619656 | MGAT2 | c.638C>T (p.Ala213Val) | |
| 14 | g.49621907T>A | CA486350364 | MGAT2 | c.639T>A (p.Ala213=) | gnomAD v4 |
| 14 | g.49621907T>C | CA486350366 | MGAT2 | c.639T>C (p.Ala213=) | |
| 14 | g.49621907T>G | CA486350368 | MGAT2 | c.639T>G (p.Ala213=) | |
| 14 | g.49621908G>A | CA389619662 | MGAT2 | c.640G>A (p.Glu214Lys) | |
| 14 | g.49621908G>C | CA389619658 | MGAT2 | c.640G>C (p.Glu214Gln) | |
| 14 | g.49621908G>T | CA389619661 | MGAT2 | c.640G>T (p.Glu214Ter) | COSMIC |
| 14 | g.49621909A>C | CA389619664 | MGAT2 | c.641A>C (p.Glu214Ala) | |
| 14 | g.49621909A>G | CA389619667 | MGAT2 | c.641A>G (p.Glu214Gly) | |
| 14 | g.49621909A>T | CA389619670 | MGAT2 | c.641A>T (p.Glu214Val) | |
| 14 | g.49621910G>A | CA486350370 | MGAT2 | c.642G>A (p.Glu214=) | |
| 14 | g.49621910G>C | CA389619672 | MGAT2 | c.642G>C (p.Glu214Asp) | |
| 14 | g.49621910G>T | CA389619673 | MGAT2 | c.642G>T (p.Glu214Asp) | |
| 14 | g.49621911T>A | CA389619675 | MGAT2 | c.643T>A (p.Tyr215Asn) | |
| 14 | g.49621911T>C | CA389619677 | MGAT2 | c.643T>C (p.Tyr215His) | |
| 14 | g.49621911T>G | CA389619678 | MGAT2 | c.643T>G (p.Tyr215Asp) | |
| 14 | g.49621912A>C | CA389619680 | MGAT2 | c.644A>C (p.Tyr215Ser) | |
| 14 | g.49621912A>G | CA389619682 | MGAT2 | c.644A>G (p.Tyr215Cys) | |
| 14 | g.49621912A>T | CA389619685 | MGAT2 | c.644A>T (p.Tyr215Phe) | |
| 14 | g.49621913T>A | CA389619688 | MGAT2 | c.645T>A (p.Tyr215Ter) | |
| 14 | g.49621913T>C | CA486350373 | MGAT2 | c.645T>C (p.Tyr215=) | |
| 14 | g.49621913T>G | CA389619690 | MGAT2 | c.645T>G (p.Tyr215Ter) | |
| 14 | g.49621914C>A | CA389619697 | MGAT2 | c.646C>A (p.Pro216Thr) | |
| 14 | g.49621914C>G | CA389619694 | MGAT2 | c.646C>G (p.Pro216Ala) | |
| 14 | g.49621914C>T | CA389619692 | MGAT2 | c.646C>T (p.Pro216Ser) | |
| 14 | g.49621915C>A | CA389619700 | MGAT2 | c.647C>A (p.Pro216His) | |
| 14 | g.49621915C= | CA2135804736 | MGAT2 | c.647C= (p.Pro216=) | |
| 14 | g.49621915C>G | CA389619702 | MGAT2 | c.647C>G (p.Pro216Arg) | |
| 14 | g.49621915C>T | CA389619704 | MGAT2 | c.647C>T (p.Pro216Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621916C>A | CA486349710 | MGAT2 | c.648C>A (p.Pro216=) | gnomAD v4 |
| 14 | g.49621916C= | CA2135804737 | MGAT2 | c.648C= (p.Pro216=) | |
| 14 | g.49621916C>G | CA486349709 | MGAT2 | c.648C>G (p.Pro216=) | |
| 14 | g.49621916C>T | CA7172586 | MGAT2 | c.648C>T (p.Pro216=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621917G>A | CA389619707 | MGAT2 | c.649G>A (p.Asp217Asn) | |
| 14 | g.49621917G>C | CA389619710 | MGAT2 | c.649G>C (p.Asp217His) | |
| 14 | g.49621917G>T | CA389619712 | MGAT2 | c.649G>T (p.Asp217Tyr) | gnomAD v4 |
| 14 | g.49621918A= | CA2135804738 | MGAT2 | c.650A= (p.Asp217=) | |
| 14 | g.49621918A>C | CA389619713 | MGAT2 | c.650A>C (p.Asp217Ala) | |
| 14 | g.49621918A>G | CA389619714 | MGAT2 | c.650A>G (p.Asp217Gly) | |
| 14 | g.49621918A>T | CA389619716 | MGAT2 | c.650A>T (p.Asp217Val) | dbSNP |
| 14 | g.49621919C>A | CA389619718 | MGAT2 | c.651C>A (p.Asp217Glu) | |
| 14 | g.49621919C= | CA2135804739 | MGAT2 | c.651C= (p.Asp217=) | |
| 14 | g.49621919C>G | CA389619719 | MGAT2 | c.651C>G (p.Asp217Glu) | |
| 14 | g.49621919C>T | CA7172587 | MGAT2 | c.651C>T (p.Asp217=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621920T>A | CA389619727 | MGAT2 | c.652T>A (p.Ser218Thr) | |
| 14 | g.49621920T>C | CA389619725 | MGAT2 | c.652T>C (p.Ser218Pro) | |
| 14 | g.49621920T>G | CA389619722 | MGAT2 | c.652T>G (p.Ser218Ala) | |
| 14 | g.49621921C>A | CA389619728 | MGAT2 | c.653C>A (p.Ser218Tyr) | |
| 14 | g.49621921C>G | CA389619731 | MGAT2 | c.653C>G (p.Ser218Cys) | |
| 14 | g.49621921C>T | CA389619734 | MGAT2 | c.653C>T (p.Ser218Phe) | |
| 14 | g.49621922C>A | CA486349716 | MGAT2 | c.654C>A (p.Ser218=) | |
| 14 | g.49621922C>G | CA486349718 | MGAT2 | c.654C>G (p.Ser218=) | |
| 14 | g.49621922C>T | CA486349717 | MGAT2 | c.654C>T (p.Ser218=) | dbSNP |
| 14 | g.49621923T>A | CA389619735 | MGAT2 | c.655T>A (p.Phe219Ile) | |
| 14 | g.49621923T>C | CA7172588 | MGAT2 | c.655T>C (p.Phe219Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621923T>G | CA389619737 | MGAT2 | c.655T>G (p.Phe219Val) | |
| 14 | g.49621923T= | CA2135804740 | MGAT2 | c.655T= (p.Phe219=) | |
| 14 | g.49621924T>A | CA389619744 | MGAT2 | c.656T>A (p.Phe219Tyr) | |
| 14 | g.49621924T>C | CA389619739 | MGAT2 | c.656T>C (p.Phe219Ser) | |
| 14 | g.49621924T>G | CA389619742 | MGAT2 | c.656T>G (p.Phe219Cys) | |
| 14 | g.49621925C>A | CA389619747 | MGAT2 | c.657C>A (p.Phe219Leu) | |
| 14 | g.49621925C= | CA2135804741 | MGAT2 | c.657C= (p.Phe219=) | |
| 14 | g.49621925C>G | CA389619750 | MGAT2 | c.657C>G (p.Phe219Leu) | |
| 14 | g.49621925C>T | CA486349723 | MGAT2 | c.657C>T (p.Phe219=) | dbSNP gnomAD v4 |
| 14 | g.49621926G>A | CA389619752 | MGAT2 | c.658G>A (p.Gly220Ser) | dbSNP |
| 14 | g.49621926G>C | CA389619754 | MGAT2 | c.658G>C (p.Gly220Arg) | |
| 14 | g.49621926G= | CA2135804742 | MGAT2 | c.658G= (p.Gly220=) | |
| 14 | g.49621926G>T | CA389619755 | MGAT2 | c.658G>T (p.Gly220Cys) | gnomAD v4 |
| 14 | g.49621927G>A | CA389619758 | MGAT2 | c.659G>A (p.Gly220Asp) | gnomAD v4 |
| 14 | g.49621927G>C | CA389619761 | MGAT2 | c.659G>C (p.Gly220Ala) | |
| 14 | g.49621927G>T | CA389619759 | MGAT2 | c.659G>T (p.Gly220Val) | |
| 14 | g.49621927_49621928dup | CA7172589 | MGAT2 | c.659_660dup (p.His221AlafsTer26) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621928C>A | CA486349725 | MGAT2 | c.660C>A (p.Gly220=) | |
| 14 | g.49621928C= | CA2135804743 | MGAT2 | c.660C= (p.Gly220=) | |
| 14 | g.49621928C>G | CA486349726 | MGAT2 | c.660C>G (p.Gly220=) | |
| 14 | g.49621928C>T | CA7172590 | MGAT2 | c.660C>T (p.Gly220=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621929C>A | CA389619766 | MGAT2 | c.661C>A (p.His221Asn) | |
| 14 | g.49621929C>G | CA389619767 | MGAT2 | c.661C>G (p.His221Asp) | |
| 14 | g.49621929C>T | CA389619769 | MGAT2 | c.661C>T (p.His221Tyr) | |
| 14 | g.49621930A= | CA2135804744 | MGAT2 | c.662A= (p.His221=) | |
| 14 | g.49621930A>C | CA389619772 | MGAT2 | c.662A>C (p.His221Pro) | |
| 14 | g.49621930A>G | CA7172591 | MGAT2 | c.662A>G (p.His221Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621930A>T | CA389619775 | MGAT2 | c.662A>T (p.His221Leu) | gnomAD v4 |
| 14 | g.49621931T>A | CA389619778 | MGAT2 | c.663T>A (p.His221Gln) | |
| 14 | g.49621931T>C | CA486349731 | MGAT2 | c.663T>C (p.His221=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621931T>G | CA389619781 | MGAT2 | c.663T>G (p.His221Gln) | |
| 14 | g.49621931T= | CA2135804745 | MGAT2 | c.663T= (p.His221=) | |
| 14 | g.49621932T>A | CA389619782 | MGAT2 | c.664T>A (p.Tyr222Asn) | |
| 14 | g.49621932T>C | CA389619784 | MGAT2 | c.664T>C (p.Tyr222His) | |
| 14 | g.49621932T>G | CA389619787 | MGAT2 | c.664T>G (p.Tyr222Asp) | |
| 14 | g.49621933A>C | CA389619790 | MGAT2 | c.665A>C (p.Tyr222Ser) | |
| 14 | g.49621933A>G | CA389619793 | MGAT2 | c.665A>G (p.Tyr222Cys) | gnomAD v4 |
| 14 | g.49621933A>T | CA389619791 | MGAT2 | c.665A>T (p.Tyr222Phe) | |
| 14 | g.49621934T>A | CA389619795 | MGAT2 | c.666T>A (p.Tyr222Ter) | |
| 14 | g.49621934T>C | CA260660756 | MGAT2 | c.666T>C (p.Tyr222=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621934T>G | CA389619798 | MGAT2 | c.666T>G (p.Tyr222Ter) | |
| 14 | g.49621934T= | CA2135804746 | MGAT2 | c.666T= (p.Tyr222=) | |
| 14 | g.49621935A>C | CA486349737 | MGAT2 | c.667A>C (p.Arg223=) | |
| 14 | g.49621935A>G | CA389619801 | MGAT2 | c.667A>G (p.Arg223Gly) | |
| 14 | g.49621935A>T | CA389619802 | MGAT2 | c.667A>T (p.Arg223Ter) | |
| 14 | g.49621939_49621940del | CA2624726677 | MGAT2 | c.671_672del (p.Glu224GlyfsTer?) | gnomAD v4 |
| 14 | g.49621936G>A | CA389619804 | MGAT2 | c.668G>A (p.Arg223Lys) | |
| 14 | g.49621936G>C | CA389619807 | MGAT2 | c.668G>C (p.Arg223Thr) | |
| 14 | g.49621936G>T | CA389619809 | MGAT2 | c.668G>T (p.Arg223Ile) | |
| 14 | g.49621937A>C | CA389619812 | MGAT2 | c.669A>C (p.Arg223Ser) | |
| 14 | g.49621937A>G | CA486349738 | MGAT2 | c.669A>G (p.Arg223=) | |
| 14 | g.49621937A>T | CA389619813 | MGAT2 | c.669A>T (p.Arg223Ser) | |
| 14 | g.49621938G>A | CA389619816 | MGAT2 | c.670G>A (p.Glu224Lys) | |
| 14 | g.49621938G>C | CA389619818 | MGAT2 | c.670G>C (p.Glu224Gln) | |
| 14 | g.49621938G>T | CA389619820 | MGAT2 | c.670G>T (p.Glu224Ter) | |
| 14 | g.49621939A= | CA2135804747 | MGAT2 | c.671A= (p.Glu224=) | |
| 14 | g.49621939A>C | CA389619828 | MGAT2 | c.671A>C (p.Glu224Ala) | |
| 14 | g.49621939A>G | CA389619822 | MGAT2 | c.671A>G (p.Glu224Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49621939A>T | CA389619824 | MGAT2 | c.671A>T (p.Glu224Val) | |
| 14 | g.49621940G>A | CA486349742 | MGAT2 | c.672G>A (p.Glu224=) | dbSNP gnomAD v4 |
| 14 | g.49621940G>C | CA389619830 | MGAT2 | c.672G>C (p.Glu224Asp) | |
| 14 | g.49621940G= | CA2135804748 | MGAT2 | c.672G= (p.Glu224=) | |
| 14 | g.49621940G>T | CA389619832 | MGAT2 | c.672G>T (p.Glu224Asp) | |
| 14 | g.49621941G>A | CA389619834 | MGAT2 | c.673G>A (p.Ala225Thr) | dbSNP gnomAD v4 |
| 14 | g.49621941G>C | CA389619836 | MGAT2 | c.673G>C (p.Ala225Pro) | |
| 14 | g.49621941G= | CA2135804749 | MGAT2 | c.673G= (p.Ala225=) | |
| 14 | g.49621941G>T | CA389619837 | MGAT2 | c.673G>T (p.Ala225Ser) | |
| 14 | g.49621942C>A | CA389619839 | MGAT2 | c.674C>A (p.Ala225Asp) | |
| 14 | g.49621942C>G | CA389619841 | MGAT2 | c.674C>G (p.Ala225Gly) | |
| 14 | g.49621942C>T | CA389619843 | MGAT2 | c.674C>T (p.Ala225Val) | |
| 14 | g.49621943C>A | CA486349745 | MGAT2 | c.675C>A (p.Ala225=) | gnomAD v4 |
| 14 | g.49621943C>G | CA486349747 | MGAT2 | c.675C>G (p.Ala225=) | |
| 14 | g.49621943C>T | CA486349749 | MGAT2 | c.675C>T (p.Ala225=) | |
| 14 | g.49621944A>C | CA389619845 | MGAT2 | c.676A>C (p.Lys226Gln) | |
| 14 | g.49621944A>G | CA389619846 | MGAT2 | c.676A>G (p.Lys226Glu) | gnomAD v4 |
| 14 | g.49621944A>T | CA389619848 | MGAT2 | c.676A>T (p.Lys226Ter) | |
| 14 | g.49621945A= | CA2135804750 | MGAT2 | c.677A= (p.Lys226=) | |
| 14 | g.49621945A>C | CA389619852 | MGAT2 | c.677A>C (p.Lys226Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621945A>G | CA389619855 | MGAT2 | c.677A>G (p.Lys226Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49621945A>T | CA389619853 | MGAT2 | c.677A>T (p.Lys226Ile) | gnomAD v4 |
| 14 | g.49621946A>C | CA389619858 | MGAT2 | c.678A>C (p.Lys226Asn) | |
| 14 | g.49621946A>G | CA486349750 | MGAT2 | c.678A>G (p.Lys226=) | |
| 14 | g.49621946A>T | CA389619860 | MGAT2 | c.678A>T (p.Lys226Asn) | COSMIC |
| 14 | g.49621947T>A | CA389619862 | MGAT2 | c.679T>A (p.Phe227Ile) | |
| 14 | g.49621947T>C | CA389619867 | MGAT2 | c.679T>C (p.Phe227Leu) | |
| 14 | g.49621947T>G | CA389619864 | MGAT2 | c.679T>G (p.Phe227Val) | |
| 14 | g.49621948T>A | CA389619870 | MGAT2 | c.680T>A (p.Phe227Tyr) | |
| 14 | g.49621948T>C | CA389619875 | MGAT2 | c.680T>C (p.Phe227Ser) | |
| 14 | g.49621948T>G | CA389619873 | MGAT2 | c.680T>G (p.Phe227Cys) | |
| 14 | g.49621949C>A | CA389619877 | MGAT2 | c.681C>A (p.Phe227Leu) | |
| 14 | g.49621949C>G | CA389619879 | MGAT2 | c.681C>G (p.Phe227Leu) | |
| 14 | g.49621949C>T | CA486349754 | MGAT2 | c.681C>T (p.Phe227=) | |
| 14 | g.49621950T>A | CA389619882 | MGAT2 | c.682T>A (p.Ser228Thr) | |
| 14 | g.49621950T>C | CA389619885 | MGAT2 | c.682T>C (p.Ser228Pro) | |
| 14 | g.49621950T>G | CA389619887 | MGAT2 | c.682T>G (p.Ser228Ala) | |
| 14 | g.49621951C>A | CA389619890 | MGAT2 | c.683C>A (p.Ser228Tyr) | |
| 14 | g.49621951C= | CA2135804751 | MGAT2 | c.683C= (p.Ser228=) | |
| 14 | g.49621951C>G | CA389619892 | MGAT2 | c.683C>G (p.Ser228Cys) | |
| 14 | g.49621951C>T | CA260660759 | MGAT2 | c.683C>T (p.Ser228Phe) | dbSNP |
| 14 | g.49621952C>A | CA486349757 | MGAT2 | c.684C>A (p.Ser228=) | |
| 14 | g.49621952C= | CA2135804752 | MGAT2 | c.684C= (p.Ser228=) | |
| 14 | g.49621952C>G | CA486349758 | MGAT2 | c.684C>G (p.Ser228=) | |
| 14 | g.49621952C>T | CA486349761 | MGAT2 | c.684C>T (p.Ser228=) | dbSNP gnomAD v2 |
| 14 | g.49621952_49621956delinsCCAGA | CA2135804753 | MGAT2 | c.684_688delinsCCAGA (p.Ser228=) | |
| 14 | g.49621953C>A | CA389619894 | MGAT2 | c.685C>A (p.Gln229Lys) | |
| 14 | g.49621953C>G | CA389619897 | MGAT2 | c.685C>G (p.Gln229Glu) | |
| 14 | g.49621953C>T | CA389619898 | MGAT2 | c.685C>T (p.Gln229Ter) | |
| 14 | g.49621954_49621957del | CA2135804754 | MGAT2 | c.686_689del (p.Gln229ProfsTer16) | dbSNP |
| 14 | g.49621954A= | CA2135804755 | MGAT2 | c.686A= (p.Gln229=) | |
| 14 | g.49621954A>C | CA389619901 | MGAT2 | c.686A>C (p.Gln229Pro) | |
| 14 | g.49621954A>G | CA389619905 | MGAT2 | c.686A>G (p.Gln229Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621954A>T | CA389619903 | MGAT2 | c.686A>T (p.Gln229Leu) | |
| 14 | g.49621955G>A | CA486349762 | MGAT2 | c.687G>A (p.Gln229=) | |
| 14 | g.49621955G>C | CA389619907 | MGAT2 | c.687G>C (p.Gln229His) | gnomAD v4 |
| 14 | g.49621955G= | CA2135804756 | MGAT2 | c.687G= (p.Gln229=) | |
| 14 | g.49621955G>T | CA389619910 | MGAT2 | c.687G>T (p.Gln229His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621956A= | CA2135804757 | MGAT2 | c.688A= (p.Thr230=) | |
| 14 | g.49621956A>C | CA389619912 | MGAT2 | c.688A>C (p.Thr230Pro) | ClinVar dbSNP gnomAD v4 |
| 14 | g.49621956A>G | CA389619914 | MGAT2 | c.688A>G (p.Thr230Ala) | |
| 14 | g.49621956A>T | CA389619917 | MGAT2 | c.688A>T (p.Thr230Ser) | |
| 14 | g.49621957C>A | CA389619920 | MGAT2 | c.689C>A (p.Thr230Asn) | |
| 14 | g.49621957C>G | CA389619922 | MGAT2 | c.689C>G (p.Thr230Ser) | |
| 14 | g.49621957C>T | CA389619924 | MGAT2 | c.689C>T (p.Thr230Ile) | |
| 14 | g.49621958C>A | CA486349770 | MGAT2 | c.690C>A (p.Thr230=) | |
| 14 | g.49621958C>G | CA486349771 | MGAT2 | c.690C>G (p.Thr230=) | |
| 14 | g.49621958C>T | CA486349769 | MGAT2 | c.690C>T (p.Thr230=) | |
| 14 | g.49621959A>C | CA389619929 | MGAT2 | c.691A>C (p.Lys231Gln) | |
| 14 | g.49621959A>G | CA389619931 | MGAT2 | c.691A>G (p.Lys231Glu) | |
| 14 | g.49621959A>T | CA389619927 | MGAT2 | c.691A>T (p.Lys231Ter) | |
| 14 | g.49621961dup | CA486349772 | MGAT2 | c.693dup (p.His232ThrfsTer?) | COSMIC |
| 14 | g.49621960A>C | CA389619934 | MGAT2 | c.692A>C (p.Lys231Thr) | |
| 14 | g.49621960A>G | CA389619936 | MGAT2 | c.692A>G (p.Lys231Arg) | |
| 14 | g.49621960A>T | CA389619939 | MGAT2 | c.692A>T (p.Lys231Ile) | |
| 14 | g.49621961A>C | CA389619941 | MGAT2 | c.693A>C (p.Lys231Asn) | |
| 14 | g.49621961A>G | CA486349775 | MGAT2 | c.693A>G (p.Lys231=) | |
| 14 | g.49621961A>T | CA389619942 | MGAT2 | c.693A>T (p.Lys231Asn) | |
| 14 | g.49621962C>A | CA389619948 | MGAT2 | c.694C>A (p.His232Asn) | |
| 14 | g.49621962C>G | CA389619944 | MGAT2 | c.694C>G (p.His232Asp) | |
| 14 | g.49621962C>T | CA389619945 | MGAT2 | c.694C>T (p.His232Tyr) | gnomAD v3 gnomAD v4 |
| 14 | g.49621963A= | CA2135804758 | MGAT2 | c.695A= (p.His232=) | |
| 14 | g.49621963A>C | CA389619950 | MGAT2 | c.695A>C (p.His232Pro) | COSMIC |
| 14 | g.49621963A>G | CA389619952 | MGAT2 | c.695A>G (p.His232Arg) | dbSNP gnomAD v2 |
| 14 | g.49621963A>T | CA389619953 | MGAT2 | c.695A>T (p.His232Leu) | |
| 14 | g.49621964T>A | CA389619954 | MGAT2 | c.696T>A (p.His232Gln) | |
| 14 | g.49621964T>C | CA486349779 | MGAT2 | c.696T>C (p.His232=) | |
| 14 | g.49621964T>G | CA389619956 | MGAT2 | c.696T>G (p.His232Gln) | |
| 14 | g.49621965C>A | CA389619958 | MGAT2 | c.697C>A (p.His233Asn) | |
| 14 | g.49621965C>G | CA389619963 | MGAT2 | c.697C>G (p.His233Asp) | |
| 14 | g.49621965C>T | CA389619960 | MGAT2 | c.697C>T (p.His233Tyr) | |
| 14 | g.49621966A= | CA2135804759 | MGAT2 | c.698A= (p.His233=) | |
| 14 | g.49621966A>C | CA389619965 | MGAT2 | c.698A>C (p.His233Pro) | |
| 14 | g.49621966A>G | CA260660763 | MGAT2 | c.698A>G (p.His233Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49621966A>T | CA389619969 | MGAT2 | c.698A>T (p.His233Leu) | |
| 14 | g.49621967C>A | CA389619972 | MGAT2 | c.699C>A (p.His233Gln) | |
| 14 | g.49621967C>G | CA389619973 | MGAT2 | c.699C>G (p.His233Gln) | |
| 14 | g.49621967C>T | CA486349783 | MGAT2 | c.699C>T (p.His233=) | gnomAD v4 |
| 14 | g.49621968T>A | CA389619976 | MGAT2 | c.700T>A (p.Trp234Arg) | |
| 14 | g.49621968T>C | CA389619979 | MGAT2 | c.700T>C (p.Trp234Arg) | |
| 14 | g.49621968T>G | CA389619980 | MGAT2 | c.700T>G (p.Trp234Gly) | |
| 14 | g.49621969G>A | CA389619982 | MGAT2 | c.701G>A (p.Trp234Ter) | gnomAD v4 |
| 14 | g.49621969G>C | CA389619984 | MGAT2 | c.701G>C (p.Trp234Ser) | |
| 14 | g.49621969G>T | CA389619986 | MGAT2 | c.701G>T (p.Trp234Leu) | |
| 14 | g.49621970G>A | CA389619990 | MGAT2 | c.702G>A (p.Trp234Ter) | |
| 14 | g.49621970G>C | CA389619991 | MGAT2 | c.702G>C (p.Trp234Cys) | |
| 14 | g.49621970G>T | CA389619988 | MGAT2 | c.702G>T (p.Trp234Cys) | |
| 14 | g.49621971T>A | CA389619996 | MGAT2 | c.703T>A (p.Trp235Arg) | |
| 14 | g.49621971T>C | CA389619993 | MGAT2 | c.703T>C (p.Trp235Arg) | |
| 14 | g.49621971T>G | CA389619995 | MGAT2 | c.703T>G (p.Trp235Gly) | |
| 14 | g.49621972G>A | CA389619998 | MGAT2 | c.704G>A (p.Trp235Ter) | COSMIC |
| 14 | g.49621972G>C | CA389620000 | MGAT2 | c.704G>C (p.Trp235Ser) | |
| 14 | g.49621972G>T | CA389620003 | MGAT2 | c.704G>T (p.Trp235Leu) | |
| 14 | g.49621973G>A | CA389620013 | MGAT2 | c.705G>A (p.Trp235Ter) | |
| 14 | g.49621973G>C | CA389620010 | MGAT2 | c.705G>C (p.Trp235Cys) | |
| 14 | g.49621973G>T | CA389620008 | MGAT2 | c.705G>T (p.Trp235Cys) | |
| 14 | g.49621974T>A | CA389620015 | MGAT2 | c.706T>A (p.Trp236Arg) | |
| 14 | g.49621974T>C | CA389620017 | MGAT2 | c.706T>C (p.Trp236Arg) | |
| 14 | g.49621974T>G | CA389620018 | MGAT2 | c.706T>G (p.Trp236Gly) | |
| 14 | g.49621975G>A | CA389620020 | MGAT2 | c.707G>A (p.Trp236Ter) | |
| 14 | g.49621975G>C | CA389620022 | MGAT2 | c.707G>C (p.Trp236Ser) | |
| 14 | g.49621975G>T | CA389620024 | MGAT2 | c.707G>T (p.Trp236Leu) | |
| 14 | g.49621976G>A | CA389620026 | MGAT2 | c.708G>A (p.Trp236Ter) | |
| 14 | g.49621976G>C | CA389620035 | MGAT2 | c.708G>C (p.Trp236Cys) | |
| 14 | g.49621976G>T | CA389620027 | MGAT2 | c.708G>T (p.Trp236Cys) | |
| 14 | g.49621977A= | CA2135804760 | MGAT2 | c.709A= (p.Lys237=) | |
| 14 | g.49621977A>C | CA389620038 | MGAT2 | c.709A>C (p.Lys237Gln) | |
| 14 | g.49621977A>G | CA389620040 | MGAT2 | c.709A>G (p.Lys237Glu) | gnomAD v4 |
| 14 | g.49621977A>T | CA389620043 | MGAT2 | c.709A>T (p.Lys237Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621978A>C | CA389620047 | MGAT2 | c.710A>C (p.Lys237Thr) | |
| 14 | g.49621978A>G | CA389620049 | MGAT2 | c.710A>G (p.Lys237Arg) | |
| 14 | g.49621978A>T | CA389620050 | MGAT2 | c.710A>T (p.Lys237Met) | |
| 14 | g.49621979G>A | CA486349797 | MGAT2 | c.711G>A (p.Lys237=) | dbSNP gnomAD v4 |
| 14 | g.49621979G>C | CA249931 | MGAT2 | c.711G>C (p.Lys237Asn) | ClinVar dbSNP |
| 14 | g.49621979G= | CA2135804761 | MGAT2 | c.711G= (p.Lys237=) | |
| 14 | g.49621979G>T | CA389620059 | MGAT2 | c.711G>T (p.Lys237Asn) | |
| 14 | g.49621980C>A | CA7172592 | MGAT2 | c.712C>A (p.Leu238Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621980C= | CA2135804762 | MGAT2 | c.712C= (p.Leu238=) | |
| 14 | g.49621980C>G | CA389620062 | MGAT2 | c.712C>G (p.Leu238Val) | |
| 14 | g.49621980C>T | CA486349800 | MGAT2 | c.712C>T (p.Leu238=) | |
| 14 | g.49621981T>A | CA389620073 | MGAT2 | c.713T>A (p.Leu238Gln) | |
| 14 | g.49621981T>C | CA389620071 | MGAT2 | c.713T>C (p.Leu238Pro) | gnomAD v4 |
| 14 | g.49621981T>G | CA389620068 | MGAT2 | c.713T>G (p.Leu238Arg) | |
| 14 | g.49621982G>A | CA7172593 | MGAT2 | c.714G>A (p.Leu238=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621982G>C | CA486349804 | MGAT2 | c.714G>C (p.Leu238=) | |
| 14 | g.49621982G= | CA2135804763 | MGAT2 | c.714G= (p.Leu238=) | |
| 14 | g.49621982G>T | CA486349803 | MGAT2 | c.714G>T (p.Leu238=) | |
| 14 | g.49621983C>A | CA389620079 | MGAT2 | c.715C>A (p.His239Asn) | |
| 14 | g.49621983C= | CA2135804764 | MGAT2 | c.715C= (p.His239=) | |
| 14 | g.49621983C>G | CA389620088 | MGAT2 | c.715C>G (p.His239Asp) | |
| 14 | g.49621983C>T | CA389620090 | MGAT2 | c.715C>T (p.His239Tyr) | dbSNP |
| 14 | g.49621984A>C | CA389620093 | MGAT2 | c.716A>C (p.His239Pro) | |
| 14 | g.49621984A>G | CA389620094 | MGAT2 | c.716A>G (p.His239Arg) | |
| 14 | g.49621984A>T | CA389620096 | MGAT2 | c.716A>T (p.His239Leu) | |
| 14 | g.49621985T>A | CA389620097 | MGAT2 | c.717T>A (p.His239Gln) | |
| 14 | g.49621985T>C | CA486349807 | MGAT2 | c.717T>C (p.His239=) | |
| 14 | g.49621985T>G | CA389620099 | MGAT2 | c.717T>G (p.His239Gln) | |
| 14 | g.49621986T>A | CA389620102 | MGAT2 | c.718T>A (p.Phe240Ile) | |
| 14 | g.49621986T>C | CA389620105 | MGAT2 | c.718T>C (p.Phe240Leu) | |
| 14 | g.49621986T>G | CA389620108 | MGAT2 | c.718T>G (p.Phe240Val) | gnomAD v4 |
| 14 | g.49621987T>A | CA389620110 | MGAT2 | c.719T>A (p.Phe240Tyr) | |
| 14 | g.49621987T>C | CA389620116 | MGAT2 | c.719T>C (p.Phe240Ser) | |
| 14 | g.49621987T>G | CA389620109 | MGAT2 | c.719T>G (p.Phe240Cys) | |
| 14 | g.49621988T>A | CA389620119 | MGAT2 | c.720T>A (p.Phe240Leu) | |
| 14 | g.49621988T>C | CA486349811 | MGAT2 | c.720T>C (p.Phe240=) | |
| 14 | g.49621988T>G | CA389620124 | MGAT2 | c.720T>G (p.Phe240Leu) | |
| 14 | g.49621989G>A | CA389620126 | MGAT2 | c.721G>A (p.Val241Met) | |
| 14 | g.49621989G>C | CA389620127 | MGAT2 | c.721G>C (p.Val241Leu) | |
| 14 | g.49621989G= | CA2135804765 | MGAT2 | c.721G= (p.Val241=) | |
| 14 | g.49621989G>T | CA389620129 | MGAT2 | c.721G>T (p.Val241Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49621990T>A | CA389620135 | MGAT2 | c.722T>A (p.Val241Glu) | |
| 14 | g.49621990T>C | CA260660767 | MGAT2 | c.722T>C (p.Val241Ala) | dbSNP |
| 14 | g.49621990T>G | CA389620133 | MGAT2 | c.722T>G (p.Val241Gly) | |
| 14 | g.49621990T= | CA2135804766 | MGAT2 | c.722T= (p.Val241=) | |
| 14 | g.49621991G>A | CA486349814 | MGAT2 | c.723G>A (p.Val241=) | dbSNP |
| 14 | g.49621991G>C | CA486349815 | MGAT2 | c.723G>C (p.Val241=) | |
| 14 | g.49621991G= | CA2135804767 | MGAT2 | c.723G= (p.Val241=) | |
| 14 | g.49621991G>T | CA486349816 | MGAT2 | c.723G>T (p.Val241=) | gnomAD v4 |
| 14 | g.49621992T>A | CA389620137 | MGAT2 | c.724T>A (p.Trp242Arg) | |
| 14 | g.49621992T>C | CA389620140 | MGAT2 | c.724T>C (p.Trp242Arg) | |
| 14 | g.49621992T>G | CA389620144 | MGAT2 | c.724T>G (p.Trp242Gly) | dbSNP |
| 14 | g.49621992T= | CA2135804768 | MGAT2 | c.724T= (p.Trp242=) | |
| 14 | g.49621993G>A | CA389620148 | MGAT2 | c.725G>A (p.Trp242Ter) | |
| 14 | g.49621993G>C | CA389620149 | MGAT2 | c.725G>C (p.Trp242Ser) | |
| 14 | g.49621993G>T | CA389620151 | MGAT2 | c.725G>T (p.Trp242Leu) | |
| 14 | g.49621994G>A | CA389620156 | MGAT2 | c.726G>A (p.Trp242Ter) | |
| 14 | g.49621994G>C | CA389620158 | MGAT2 | c.726G>C (p.Trp242Cys) | |
| 14 | g.49621994G>T | CA389620153 | MGAT2 | c.726G>T (p.Trp242Cys) |