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.49622128_49622130del | CA2624726688 | MGAT2 | c.860_862del (p.Asp287del) | gnomAD v4 |
| 14 | g.49622128A>C | CA389620784 | MGAT2 | c.860A>C (p.Asp287Ala) | |
| 14 | g.49622128A>G | CA389620786 | MGAT2 | c.860A>G (p.Asp287Gly) | |
| 14 | g.49622128A>T | CA389620788 | MGAT2 | c.860A>T (p.Asp287Val) | |
| 14 | g.49622129T>A | CA389620790 | MGAT2 | c.861T>A (p.Asp287Glu) | |
| 14 | g.49622129T>C | CA486350229 | MGAT2 | c.861T>C (p.Asp287=) | |
| 14 | g.49622129T>G | CA389620792 | MGAT2 | c.861T>G (p.Asp287Glu) | |
| 14 | g.49622130G>A | CA389620796 | MGAT2 | c.862G>A (p.Val288Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622130G>C | CA389620797 | MGAT2 | c.862G>C (p.Val288Leu) | |
| 14 | g.49622130G= | CA2135804819 | MGAT2 | c.862G= (p.Val288=) | |
| 14 | g.49622130G>T | CA389620794 | MGAT2 | c.862G>T (p.Val288Phe) | |
| 14 | g.49622131T>A | CA389620799 | MGAT2 | c.863T>A (p.Val288Asp) | |
| 14 | g.49622131T>C | CA389620800 | MGAT2 | c.863T>C (p.Val288Ala) | |
| 14 | g.49622131T>G | CA389620802 | MGAT2 | c.863T>G (p.Val288Gly) | |
| 14 | g.49622132T>A | CA486350240 | MGAT2 | c.864T>A (p.Val288=) | |
| 14 | g.49622132T>C | CA486350238 | MGAT2 | c.864T>C (p.Val288=) | |
| 14 | g.49622132T>G | CA486350239 | MGAT2 | c.864T>G (p.Val288=) | |
| 14 | g.49622133C>A | CA389620804 | MGAT2 | c.865C>A (p.Leu289Ile) | |
| 14 | g.49622133C>G | CA389620806 | MGAT2 | c.865C>G (p.Leu289Val) | |
| 14 | g.49622133C>T | CA389620808 | MGAT2 | c.865C>T (p.Leu289Phe) | gnomAD v4 |
| 14 | g.49622134T>A | CA389620810 | MGAT2 | c.866T>A (p.Leu289His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622134T>C | CA389620814 | MGAT2 | c.866T>C (p.Leu289Pro) | |
| 14 | g.49622134T>G | CA389620811 | MGAT2 | c.866T>G (p.Leu289Arg) | |
| 14 | g.49622134T= | CA2135804820 | MGAT2 | c.866T= (p.Leu289=) | |
| 14 | g.49622135C>A | CA486350244 | MGAT2 | c.867C>A (p.Leu289=) | |
| 14 | g.49622135C= | CA2135804821 | MGAT2 | c.867C= (p.Leu289=) | |
| 14 | g.49622135C>G | CA486350247 | MGAT2 | c.867C>G (p.Leu289=) | |
| 14 | g.49622135C>T | CA7172608 | MGAT2 | c.867C>T (p.Leu289=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622136T>A | CA389620817 | MGAT2 | c.868T>A (p.Ser290Thr) | |
| 14 | g.49622136T>C | CA389620818 | MGAT2 | c.868T>C (p.Ser290Pro) | |
| 14 | g.49622136T>G | CA389620820 | MGAT2 | c.868T>G (p.Ser290Ala) | |
| 14 | g.49622137C>A | CA389620825 | MGAT2 | c.869C>A (p.Ser290Tyr) | |
| 14 | g.49622137C= | CA2135804822 | MGAT2 | c.869C= (p.Ser290=) | |
| 14 | g.49622137C>G | CA389620822 | MGAT2 | c.869C>G (p.Ser290Cys) | |
| 14 | g.49622137C>T | CA254036 | MGAT2 | c.869C>T (p.Ser290Phe) | ClinVar dbSNP gnomAD v4 |
| 14 | g.49622138C>A | CA486350250 | MGAT2 | c.870C>A (p.Ser290=) | |
| 14 | g.49622138C= | CA2135804823 | MGAT2 | c.870C= (p.Ser290=) | |
| 14 | g.49622138C>G | CA486350251 | MGAT2 | c.870C>G (p.Ser290=) | gnomAD v4 |
| 14 | g.49622138C>T | CA7172609 | MGAT2 | c.870C>T (p.Ser290=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49622139C>A | CA389620828 | MGAT2 | c.871C>A (p.Leu291Met) | |
| 14 | g.49622139C= | CA2135804824 | MGAT2 | c.871C= (p.Leu291=) | |
| 14 | g.49622139C>G | CA389620830 | MGAT2 | c.871C>G (p.Leu291Val) | |
| 14 | g.49622139C>T | CA486350252 | MGAT2 | c.871C>T (p.Leu291=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622140T>A | CA389620832 | MGAT2 | c.872T>A (p.Leu291Gln) | |
| 14 | g.49622140T>C | CA389620834 | MGAT2 | c.872T>C (p.Leu291Pro) | |
| 14 | g.49622140T>G | CA389620836 | MGAT2 | c.872T>G (p.Leu291Arg) | |
| 14 | g.49622141G>A | CA486350259 | MGAT2 | c.873G>A (p.Leu291=) | gnomAD v4 |
| 14 | g.49622141G>C | CA486350261 | MGAT2 | c.873G>C (p.Leu291=) | |
| 14 | g.49622141G>T | CA486350263 | MGAT2 | c.873G>T (p.Leu291=) | |
| 14 | g.49622144del | CA2624726691 | MGAT2 | c.876del (p.Thr293ProfsTer15) | gnomAD v4 |
| 14 | g.49622142G>A | CA7172610 | MGAT2 | c.874G>A (p.Gly292Arg) | dbSNP ExAC |
| 14 | g.49622142G>C | CA389620837 | MGAT2 | c.874G>C (p.Gly292Arg) | |
| 14 | g.49622142G= | CA2135804825 | MGAT2 | c.874G= (p.Gly292=) | |
| 14 | g.49622142G>T | CA389620839 | MGAT2 | c.874G>T (p.Gly292Trp) | gnomAD v4 |
| 14 | g.49622143G>A | CA389620842 | MGAT2 | c.875G>A (p.Gly292Glu) | |
| 14 | g.49622143G>C | CA389620843 | MGAT2 | c.875G>C (p.Gly292Ala) | |
| 14 | g.49622143G>T | CA389620845 | MGAT2 | c.875G>T (p.Gly292Val) | |
| 14 | g.49622144G>A | CA486350267 | MGAT2 | c.876G>A (p.Gly292=) | dbSNP gnomAD v4 |
| 14 | g.49622144G>C | CA486350268 | MGAT2 | c.876G>C (p.Gly292=) | |
| 14 | g.49622144G= | CA2135804826 | MGAT2 | c.876G= (p.Gly292=) | |
| 14 | g.49622144G>T | CA486350271 | MGAT2 | c.876G>T (p.Gly292=) | |
| 14 | g.49622145A>C | CA389620849 | MGAT2 | c.877A>C (p.Thr293Pro) | |
| 14 | g.49622145A>G | CA389620851 | MGAT2 | c.877A>G (p.Thr293Ala) | |
| 14 | g.49622145A>T | CA389620847 | MGAT2 | c.877A>T (p.Thr293Ser) | gnomAD v4 |
| 14 | g.49622146C>A | CA389620854 | MGAT2 | c.878C>A (p.Thr293Asn) | |
| 14 | g.49622146C>G | CA389620855 | MGAT2 | c.878C>G (p.Thr293Ser) | |
| 14 | g.49622146C>T | CA389620857 | MGAT2 | c.878C>T (p.Thr293Ile) | gnomAD v4 |
| 14 | g.49622147C>A | CA486350275 | MGAT2 | c.879C>A (p.Thr293=) | |
| 14 | g.49622147C= | CA2135804827 | MGAT2 | c.879C= (p.Thr293=) | |
| 14 | g.49622147C>G | CA486350276 | MGAT2 | c.879C>G (p.Thr293=) | |
| 14 | g.49622147C>T | CA486350277 | MGAT2 | c.879C>T (p.Thr293=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622148T>A | CA389620859 | MGAT2 | c.880T>A (p.Tyr294Asn) | |
| 14 | g.49622148T>C | CA389620861 | MGAT2 | c.880T>C (p.Tyr294His) | |
| 14 | g.49622148T>G | CA389620863 | MGAT2 | c.880T>G (p.Tyr294Asp) | |
| 14 | g.49622149A= | CA2135804828 | MGAT2 | c.881A= (p.Tyr294=) | |
| 14 | g.49622149A>C | CA389620864 | MGAT2 | c.881A>C (p.Tyr294Ser) | |
| 14 | g.49622149A>G | CA7172611 | MGAT2 | c.881A>G (p.Tyr294Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49622149A>T | CA389620866 | MGAT2 | c.881A>T (p.Tyr294Phe) | |
| 14 | g.49622150T>A | CA389620869 | MGAT2 | c.882T>A (p.Tyr294Ter) | |
| 14 | g.49622150T>C | CA486350281 | MGAT2 | c.882T>C (p.Tyr294=) | |
| 14 | g.49622150T>G | CA389620871 | MGAT2 | c.882T>G (p.Tyr294Ter) | |
| 14 | g.49622151A>C | CA389620873 | MGAT2 | c.883A>C (p.Ser295Arg) | |
| 14 | g.49622151A>G | CA389620874 | MGAT2 | c.883A>G (p.Ser295Gly) | gnomAD v4 |
| 14 | g.49622151A>T | CA389620876 | MGAT2 | c.883A>T (p.Ser295Cys) | |
| 14 | g.49622152G>A | CA389620880 | MGAT2 | c.884G>A (p.Ser295Asn) | |
| 14 | g.49622152G>C | CA389620881 | MGAT2 | c.884G>C (p.Ser295Thr) | |
| 14 | g.49622152G>T | CA389620878 | MGAT2 | c.884G>T (p.Ser295Ile) | |
| 14 | g.49622153T>A | CA389620884 | MGAT2 | c.885T>A (p.Ser295Arg) | |
| 14 | g.49622153T>C | CA486350287 | MGAT2 | c.885T>C (p.Ser295=) | |
| 14 | g.49622153T>G | CA389620883 | MGAT2 | c.885T>G (p.Ser295Arg) | |
| 14 | g.49622154G>A | CA7172612 | MGAT2 | c.886G>A (p.Ala296Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49622154G>C | CA389620886 | MGAT2 | c.886G>C (p.Ala296Pro) | |
| 14 | g.49622154G= | CA2135804829 | MGAT2 | c.886G= (p.Ala296=) | |
| 14 | g.49622154G>T | CA389620888 | MGAT2 | c.886G>T (p.Ala296Ser) | |
| 14 | g.49622155C>A | CA389620891 | MGAT2 | c.887C>A (p.Ala296Asp) | |
| 14 | g.49622155C= | CA2135804830 | MGAT2 | c.887C= (p.Ala296=) | |
| 14 | g.49622155C>G | CA389620892 | MGAT2 | c.887C>G (p.Ala296Gly) | |
| 14 | g.49622155C>T | CA7172613 | MGAT2 | c.887C>T (p.Ala296Val) | dbSNP ExAC gnomAD v2 |
| 14 | g.49622156C>A | CA486350294 | MGAT2 | c.888C>A (p.Ala296=) | |
| 14 | g.49622156C= | CA2135804831 | MGAT2 | c.888C= (p.Ala296=) | |
| 14 | g.49622156C>G | CA486350296 | MGAT2 | c.888C>G (p.Ala296=) | |
| 14 | g.49622156C>T | CA7172614 | MGAT2 | c.888C>T (p.Ala296=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622157A= | CA2135804832 | MGAT2 | c.889A= (p.Ser297=) | |
| 14 | g.49622157A>C | CA389620895 | MGAT2 | c.889A>C (p.Ser297Arg) | |
| 14 | g.49622157A>G | CA260660817 | MGAT2 | c.889A>G (p.Ser297Gly) | dbSNP |
| 14 | g.49622157A>T | CA389620898 | MGAT2 | c.889A>T (p.Ser297Cys) | gnomAD v4 |
| 14 | g.49622158G>A | CA389620900 | MGAT2 | c.890G>A (p.Ser297Asn) | gnomAD v4 |
| 14 | g.49622158G>C | CA389620902 | MGAT2 | c.890G>C (p.Ser297Thr) | |
| 14 | g.49622158G>T | CA389620904 | MGAT2 | c.890G>T (p.Ser297Ile) | |
| 14 | g.49622159T>A | CA389620907 | MGAT2 | c.891T>A (p.Ser297Arg) | COSMIC |
| 14 | g.49622159T>C | CA486350300 | MGAT2 | c.891T>C (p.Ser297=) | |
| 14 | g.49622159T>G | CA389620909 | MGAT2 | c.891T>G (p.Ser297Arg) | |
| 14 | g.49622160C>A | CA389620910 | MGAT2 | c.892C>A (p.Arg298Ser) | gnomAD v4 |
| 14 | g.49622160C>G | CA389620914 | MGAT2 | c.892C>G (p.Arg298Gly) | |
| 14 | g.49622160C>T | CA389620912 | MGAT2 | c.892C>T (p.Arg298Cys) | |
| 14 | g.49622161G>A | CA389620916 | MGAT2 | c.893G>A (p.Arg298His) | gnomAD v4 |
| 14 | g.49622161G>C | CA389620918 | MGAT2 | c.893G>C (p.Arg298Pro) | |
| 14 | g.49622161G>T | CA389620919 | MGAT2 | c.893G>T (p.Arg298Leu) | gnomAD v4 |
| 14 | g.49622162C>A | CA7172615 | MGAT2 | c.894C>A (p.Arg298=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622162C= | CA2135804833 | MGAT2 | c.894C= (p.Arg298=) | |
| 14 | g.49622162C>G | CA486350306 | MGAT2 | c.894C>G (p.Arg298=) | |
| 14 | g.49622162C>T | CA486350307 | MGAT2 | c.894C>T (p.Arg298=) | dbSNP |
| 14 | g.49622163A>C | CA389620923 | MGAT2 | c.895A>C (p.Ser299Arg) | |
| 14 | g.49622163A>G | CA389620924 | MGAT2 | c.895A>G (p.Ser299Gly) | |
| 14 | g.49622163A>T | CA389620926 | MGAT2 | c.895A>T (p.Ser299Cys) | |
| 14 | g.49622164G>A | CA389620928 | MGAT2 | c.896G>A (p.Ser299Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622164G>C | CA389620929 | MGAT2 | c.896G>C (p.Ser299Thr) | |
| 14 | g.49622164G= | CA2135804834 | MGAT2 | c.896G= (p.Ser299=) | |
| 14 | g.49622164G>T | CA389620931 | MGAT2 | c.896G>T (p.Ser299Ile) | |
| 14 | g.49622165T>A | CA389620935 | MGAT2 | c.897T>A (p.Ser299Arg) | |
| 14 | g.49622165T>C | CA486350315 | MGAT2 | c.897T>C (p.Ser299=) | gnomAD v4 |
| 14 | g.49622165T>G | CA389620933 | MGAT2 | c.897T>G (p.Ser299Arg) | |
| 14 | g.49622166T>A | CA389620937 | MGAT2 | c.898T>A (p.Phe300Ile) | |
| 14 | g.49622166T>C | CA389620938 | MGAT2 | c.898T>C (p.Phe300Leu) | |
| 14 | g.49622166T>G | CA389620939 | MGAT2 | c.898T>G (p.Phe300Val) | |
| 14 | g.49622167T>A | CA389620941 | MGAT2 | c.899T>A (p.Phe300Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622167T>C | CA389620942 | MGAT2 | c.899T>C (p.Phe300Ser) | |
| 14 | g.49622167T>G | CA389620944 | MGAT2 | c.899T>G (p.Phe300Cys) | |
| 14 | g.49622167T= | CA2135804835 | MGAT2 | c.899T= (p.Phe300=) | |
| 14 | g.49622168C>A | CA389620946 | MGAT2 | c.900C>A (p.Phe300Leu) | |
| 14 | g.49622168C= | CA2135804836 | MGAT2 | c.900C= (p.Phe300=) | |
| 14 | g.49622168C>G | CA389620948 | MGAT2 | c.900C>G (p.Phe300Leu) | dbSNP gnomAD v4 |
| 14 | g.49622168C>T | CA486350318 | MGAT2 | c.900C>T (p.Phe300=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622169T>A | CA389620950 | MGAT2 | c.901T>A (p.Tyr301Asn) | |
| 14 | g.49622169T>C | CA389620952 | MGAT2 | c.901T>C (p.Tyr301His) | |
| 14 | g.49622169T>G | CA389620954 | MGAT2 | c.901T>G (p.Tyr301Asp) | |
| 14 | g.49622170A= | CA2135804837 | MGAT2 | c.902A= (p.Tyr301=) | |
| 14 | g.49622170A>C | CA389620956 | MGAT2 | c.902A>C (p.Tyr301Ser) | |
| 14 | g.49622170A>G | CA7172616 | MGAT2 | c.902A>G (p.Tyr301Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622170A>T | CA389620958 | MGAT2 | c.902A>T (p.Tyr301Phe) | |
| 14 | g.49622171T>A | CA389620961 | MGAT2 | c.903T>A (p.Tyr301Ter) | |
| 14 | g.49622171T>C | CA486349922 | MGAT2 | c.903T>C (p.Tyr301=) | |
| 14 | g.49622171T>G | CA389620963 | MGAT2 | c.903T>G (p.Tyr301Ter) | |
| 14 | g.49622172G>A | CA389620965 | MGAT2 | c.904G>A (p.Gly302Ser) | |
| 14 | g.49622172G>C | CA389620967 | MGAT2 | c.904G>C (p.Gly302Arg) | |
| 14 | g.49622172G= | CA2135804838 | MGAT2 | c.904G= (p.Gly302=) | |
| 14 | g.49622172G>T | CA389620969 | MGAT2 | c.904G>T (p.Gly302Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49622173G>A | CA389620971 | MGAT2 | c.905G>A (p.Gly302Asp) | |
| 14 | g.49622173G>C | CA7172617 | MGAT2 | c.905G>C (p.Gly302Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49622173G= | CA2135804839 | MGAT2 | c.905G= (p.Gly302=) | |
| 14 | g.49622173G>T | CA389620974 | MGAT2 | c.905G>T (p.Gly302Val) | |
| 14 | g.49622174C>A | CA486349926 | MGAT2 | c.906C>A (p.Gly302=) | |
| 14 | g.49622174C>G | CA486349928 | MGAT2 | c.906C>G (p.Gly302=) | |
| 14 | g.49622174C>T | CA486349930 | MGAT2 | c.906C>T (p.Gly302=) | gnomAD v4 |
| 14 | g.49622175A= | CA2135804840 | MGAT2 | c.907A= (p.Met303=) | |
| 14 | g.49622175A>C | CA389620976 | MGAT2 | c.907A>C (p.Met303Leu) | |
| 14 | g.49622175A>G | CA7172618 | MGAT2 | c.907A>G (p.Met303Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622175A>T | CA389620977 | MGAT2 | c.907A>T (p.Met303Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622176T>A | CA389620979 | MGAT2 | c.908T>A (p.Met303Lys) | dbSNP |
| 14 | g.49622176T>C | CA389620981 | MGAT2 | c.908T>C (p.Met303Thr) | |
| 14 | g.49622176T>G | CA389620983 | MGAT2 | c.908T>G (p.Met303Arg) | |
| 14 | g.49622177G>A | CA389620986 | MGAT2 | c.909G>A (p.Met303Ile) | |
| 14 | g.49622177G>C | CA389620987 | MGAT2 | c.909G>C (p.Met303Ile) | |
| 14 | g.49622177G>T | CA389620985 | MGAT2 | c.909G>T (p.Met303Ile) | |
| 14 | g.49622178G>A | CA389620988 | MGAT2 | c.910G>A (p.Ala304Thr) | gnomAD v4 |
| 14 | g.49622178G>C | CA389620989 | MGAT2 | c.910G>C (p.Ala304Pro) | |
| 14 | g.49622178G>T | CA389620990 | MGAT2 | c.910G>T (p.Ala304Ser) | |
| 14 | g.49622179C>A | CA389620991 | MGAT2 | c.911C>A (p.Ala304Asp) | |
| 14 | g.49622179C= | CA2135804841 | MGAT2 | c.911C= (p.Ala304=) | |
| 14 | g.49622179C>G | CA389620992 | MGAT2 | c.911C>G (p.Ala304Gly) | |
| 14 | g.49622179C>T | CA389620993 | MGAT2 | c.911C>T (p.Ala304Val) | |
| 14 | g.49622180T>A | CA486349938 | MGAT2 | c.912T>A (p.Ala304=) | |
| 14 | g.49622180T>C | CA486349939 | MGAT2 | c.912T>C (p.Ala304=) | |
| 14 | g.49622180T>G | CA486349940 | MGAT2 | c.912T>G (p.Ala304=) | |
| 14 | g.49622180dup | CA260660821 | MGAT2 | c.912dup (p.Asp305Ter) | dbSNP gnomAD v4 |
| 14 | g.49622181G>A | CA389620995 | MGAT2 | c.913G>A (p.Asp305Asn) | |
| 14 | g.49622181G>C | CA389620997 | MGAT2 | c.913G>C (p.Asp305His) | |
| 14 | g.49622181G= | CA2135804842 | MGAT2 | c.913G= (p.Asp305=) | |
| 14 | g.49622181G>T | CA389620996 | MGAT2 | c.913G>T (p.Asp305Tyr) | |
| 14 | g.49622182A= | CA2135804843 | MGAT2 | c.914A= (p.Asp305=) | |
| 14 | g.49622182A>C | CA389620998 | MGAT2 | c.914A>C (p.Asp305Ala) | |
| 14 | g.49622182A>G | CA389620999 | MGAT2 | c.914A>G (p.Asp305Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622182A>T | CA389621000 | MGAT2 | c.914A>T (p.Asp305Val) | |
| 14 | g.49622183_49622184dup | CA614273682 | MGAT2 | c.915_916dup (p.Lys306ThrfsTer3) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622183C>A | CA389621001 | MGAT2 | c.915C>A (p.Asp305Glu) | |
| 14 | g.49622183C>G | CA389621002 | MGAT2 | c.915C>G (p.Asp305Glu) | |
| 14 | g.49622183C>T | CA486349946 | MGAT2 | c.915C>T (p.Asp305=) | |
| 14 | g.49622184A>C | CA389621003 | MGAT2 | c.916A>C (p.Lys306Gln) | |
| 14 | g.49622184A>G | CA389621005 | MGAT2 | c.916A>G (p.Lys306Glu) | |
| 14 | g.49622184A>T | CA389621004 | MGAT2 | c.916A>T (p.Lys306Ter) | |
| 14 | g.49622185A>C | CA389621006 | MGAT2 | c.917A>C (p.Lys306Thr) | |
| 14 | g.49622185A>G | CA389621007 | MGAT2 | c.917A>G (p.Lys306Arg) | |
| 14 | g.49622185A>T | CA389621008 | MGAT2 | c.917A>T (p.Lys306Met) | |
| 14 | g.49622186G>A | CA486349951 | MGAT2 | c.918G>A (p.Lys306=) | |
| 14 | g.49622186G>C | CA389621009 | MGAT2 | c.918G>C (p.Lys306Asn) | gnomAD v4 |
| 14 | g.49622186G>T | CA389621010 | MGAT2 | c.918G>T (p.Lys306Asn) | |
| 14 | g.49622187G>A | CA389621011 | MGAT2 | c.919G>A (p.Val307Ile) | gnomAD v4 |
| 14 | g.49622187G>C | CA389621012 | MGAT2 | c.919G>C (p.Val307Leu) | |
| 14 | g.49622187G>T | CA389621013 | MGAT2 | c.919G>T (p.Val307Leu) | |
| 14 | g.49622188T>A | CA389621014 | MGAT2 | c.920T>A (p.Val307Glu) | |
| 14 | g.49622188T>C | CA389621015 | MGAT2 | c.920T>C (p.Val307Ala) | |
| 14 | g.49622188T>G | CA389621016 | MGAT2 | c.920T>G (p.Val307Gly) | |
| 14 | g.49622189A= | CA2135804844 | MGAT2 | c.921A= (p.Val307=) | |
| 14 | g.49622189A>C | CA260660822 | MGAT2 | c.921A>C (p.Val307=) | dbSNP gnomAD v4 |
| 14 | g.49622189A>G | CA7172619 | MGAT2 | c.921A>G (p.Val307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622189A>T | CA486349962 | MGAT2 | c.921A>T (p.Val307=) | |
| 14 | g.49622190G>A | CA389621017 | MGAT2 | c.922G>A (p.Asp308Asn) | |
| 14 | g.49622190G>C | CA389621019 | MGAT2 | c.922G>C (p.Asp308His) | gnomAD v4 |
| 14 | g.49622190G>T | CA389621018 | MGAT2 | c.922G>T (p.Asp308Tyr) | |
| 14 | g.49622191A>C | CA389621020 | MGAT2 | c.923A>C (p.Asp308Ala) | |
| 14 | g.49622191A>G | CA389621021 | MGAT2 | c.923A>G (p.Asp308Gly) | gnomAD v4 |
| 14 | g.49622191A>T | CA389621022 | MGAT2 | c.923A>T (p.Asp308Val) | |
| 14 | g.49622192T>A | CA389621023 | MGAT2 | c.924T>A (p.Asp308Glu) | |
| 14 | g.49622192T>C | CA486349969 | MGAT2 | c.924T>C (p.Asp308=) | |
| 14 | g.49622192T>G | CA389621024 | MGAT2 | c.924T>G (p.Asp308Glu) | |
| 14 | g.49622193G>A | CA7172620 | MGAT2 | c.925G>A (p.Val309Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49622193G>C | CA389621027 | MGAT2 | c.925G>C (p.Val309Leu) | |
| 14 | g.49622193G= | CA2135804845 | MGAT2 | c.925G= (p.Val309=) | |
| 14 | g.49622193G>T | CA389621025 | MGAT2 | c.925G>T (p.Val309Leu) | |
| 14 | g.49622194T>A | CA389621031 | MGAT2 | c.926T>A (p.Val309Glu) | |
| 14 | g.49622194T>C | CA389621033 | MGAT2 | c.926T>C (p.Val309Ala) | |
| 14 | g.49622194T>G | CA389621035 | MGAT2 | c.926T>G (p.Val309Gly) | gnomAD v4 |
| 14 | g.49622195G>A | CA486349974 | MGAT2 | c.927G>A (p.Val309=) | |
| 14 | g.49622195G>C | CA486349976 | MGAT2 | c.927G>C (p.Val309=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622195G= | CA2135804846 | MGAT2 | c.927G= (p.Val309=) | |
| 14 | g.49622195G>T | CA486349975 | MGAT2 | c.927G>T (p.Val309=) | |
| 14 | g.49622196A>C | CA389621037 | MGAT2 | c.928A>C (p.Lys310Gln) | |
| 14 | g.49622196A>G | CA389621038 | MGAT2 | c.928A>G (p.Lys310Glu) | |
| 14 | g.49622196A>T | CA389621040 | MGAT2 | c.928A>T (p.Lys310Ter) | |
| 14 | g.49622197A>C | CA389621042 | MGAT2 | c.929A>C (p.Lys310Thr) | |
| 14 | g.49622197A>G | CA389621046 | MGAT2 | c.929A>G (p.Lys310Arg) | |
| 14 | g.49622197A>T | CA389621045 | MGAT2 | c.929A>T (p.Lys310Ile) | |
| 14 | g.49622198A>C | CA389621048 | MGAT2 | c.930A>C (p.Lys310Asn) | |
| 14 | g.49622198A>G | CA486349981 | MGAT2 | c.930A>G (p.Lys310=) | |
| 14 | g.49622198A>T | CA389621050 | MGAT2 | c.930A>T (p.Lys310Asn) | |
| 14 | g.49622199A>C | CA389621052 | MGAT2 | c.931A>C (p.Thr311Pro) | |
| 14 | g.49622199A>G | CA389621053 | MGAT2 | c.931A>G (p.Thr311Ala) | |
| 14 | g.49622199A>T | CA389621055 | MGAT2 | c.931A>T (p.Thr311Ser) | |
| 14 | g.49622200C>A | CA389621057 | MGAT2 | c.932C>A (p.Thr311Asn) | |
| 14 | g.49622200C= | CA2135804847 | MGAT2 | c.932C= (p.Thr311=) | |
| 14 | g.49622200C>G | CA389621059 | MGAT2 | c.932C>G (p.Thr311Ser) | |
| 14 | g.49622200C>T | CA260660827 | MGAT2 | c.932C>T (p.Thr311Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49622201T>A | CA486349986 | MGAT2 | c.933T>A (p.Thr311=) | |
| 14 | g.49622201T>C | CA486349988 | MGAT2 | c.933T>C (p.Thr311=) | |
| 14 | g.49622201T>G | CA486349989 | MGAT2 | c.933T>G (p.Thr311=) | |
| 14 | g.49622202T>A | CA389621062 | MGAT2 | c.934T>A (p.Trp312Arg) | |
| 14 | g.49622202T>C | CA389621064 | MGAT2 | c.934T>C (p.Trp312Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622202T>G | CA389621066 | MGAT2 | c.934T>G (p.Trp312Gly) | gnomAD v4 COSMIC |
| 14 | g.49622202T= | CA2135804848 | MGAT2 | c.934T= (p.Trp312=) | |
| 14 | g.49622203G>A | CA389621070 | MGAT2 | c.935G>A (p.Trp312Ter) | |
| 14 | g.49622203G>C | CA389621072 | MGAT2 | c.935G>C (p.Trp312Ser) | gnomAD v4 |
| 14 | g.49622203G>T | CA389621068 | MGAT2 | c.935G>T (p.Trp312Leu) | |
| 14 | g.49622204G>A | CA389621076 | MGAT2 | c.936G>A (p.Trp312Ter) | |
| 14 | g.49622204G>C | CA389621074 | MGAT2 | c.936G>C (p.Trp312Cys) | |
| 14 | g.49622204G>T | CA389621077 | MGAT2 | c.936G>T (p.Trp312Cys) | |
| 14 | g.49622205A>C | CA389621079 | MGAT2 | c.937A>C (p.Lys313Gln) | |
| 14 | g.49622205A>G | CA389621081 | MGAT2 | c.937A>G (p.Lys313Glu) | |
| 14 | g.49622205A>T | CA389621083 | MGAT2 | c.937A>T (p.Lys313Ter) | |
| 14 | g.49622206A>C | CA389621085 | MGAT2 | c.938A>C (p.Lys313Thr) | gnomAD v4 |
| 14 | g.49622206A>G | CA389621086 | MGAT2 | c.938A>G (p.Lys313Arg) | |
| 14 | g.49622206A>T | CA389621088 | MGAT2 | c.938A>T (p.Lys313Ile) | |
| 14 | g.49622207A= | CA2135804849 | MGAT2 | c.939A= (p.Lys313=) | |
| 14 | g.49622207A>C | CA389621089 | MGAT2 | c.939A>C (p.Lys313Asn) | |
| 14 | g.49622207A>G | CA486349996 | MGAT2 | c.939A>G (p.Lys313=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622207A>T | CA389621091 | MGAT2 | c.939A>T (p.Lys313Asn) | |
| 14 | g.49622208T>A | CA389621093 | MGAT2 | c.940T>A (p.Ser314Thr) | |
| 14 | g.49622208T>C | CA389621095 | MGAT2 | c.940T>C (p.Ser314Pro) | |
| 14 | g.49622208T>G | CA389621097 | MGAT2 | c.940T>G (p.Ser314Ala) | |
| 14 | g.49622209C>A | CA389621103 | MGAT2 | c.941C>A (p.Ser314Tyr) | gnomAD v4 |
| 14 | g.49622209C>G | CA389621099 | MGAT2 | c.941C>G (p.Ser314Cys) | |
| 14 | g.49622209C>T | CA389621101 | MGAT2 | c.941C>T (p.Ser314Phe) | |
| 14 | g.49622210C>A | CA486350000 | MGAT2 | c.942C>A (p.Ser314=) | |
| 14 | g.49622210C>G | CA486350004 | MGAT2 | c.942C>G (p.Ser314=) | |
| 14 | g.49622210C>T | CA486350002 | MGAT2 | c.942C>T (p.Ser314=) | |
| 14 | g.49622211A>C | CA389621105 | MGAT2 | c.943A>C (p.Thr315Pro) | |
| 14 | g.49622211A>G | CA389621107 | MGAT2 | c.943A>G (p.Thr315Ala) | gnomAD v4 |
| 14 | g.49622211A>T | CA389621109 | MGAT2 | c.943A>T (p.Thr315Ser) | |
| 14 | g.49622212C>A | CA389621111 | MGAT2 | c.944C>A (p.Thr315Lys) | |
| 14 | g.49622212C>G | CA389621113 | MGAT2 | c.944C>G (p.Thr315Arg) | |
| 14 | g.49622212C>T | CA389621115 | MGAT2 | c.944C>T (p.Thr315Ile) | |
| 14 | g.49622212_49622214delinsCAG | CA2135804851 | MGAT2 | c.944_946delinsCAG (p.Thr315=) | |
| 14 | g.49622213A= | CA2135804852 | MGAT2 | c.945A= (p.Thr315=) | |
| 14 | g.49622213A>C | CA7172622 | MGAT2 | c.945A>C (p.Thr315=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622213A>G | CA486350006 | MGAT2 | c.945A>G (p.Thr315=) | gnomAD v4 |
| 14 | g.49622213A>T | CA486350007 | MGAT2 | c.945A>T (p.Thr315=) | |
| 14 | g.49622215_49622216del | CA7172621 | MGAT2 | c.947_948del (p.Glu316AlafsTer26) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49622214G>A | CA389621119 | MGAT2 | c.946G>A (p.Glu316Lys) | |
| 14 | g.49622214G>C | CA260660831 | MGAT2 | c.946G>C (p.Glu316Gln) | dbSNP gnomAD v4 |
| 14 | g.49622214G= | CA2135804854 | MGAT2 | c.946G= (p.Glu316=) | |
| 14 | g.49622214G>T | CA389621122 | MGAT2 | c.946G>T (p.Glu316Ter) | |
| 14 | g.49622215A>C | CA389621125 | MGAT2 | c.947A>C (p.Glu316Ala) | |
| 14 | g.49622215A>G | CA389621128 | MGAT2 | c.947A>G (p.Glu316Gly) | |
| 14 | g.49622215A>T | CA389621124 | MGAT2 | c.947A>T (p.Glu316Val) | |
| 14 | g.49622216G>A | CA486350008 | MGAT2 | c.948G>A (p.Glu316=) | |
| 14 | g.49622216G>C | CA389621130 | MGAT2 | c.948G>C (p.Glu316Asp) | dbSNP gnomAD v4 |
| 14 | g.49622216G= | CA2135804855 | MGAT2 | c.948G= (p.Glu316=) | |
| 14 | g.49622216G>T | CA389621131 | MGAT2 | c.948G>T (p.Glu316Asp) | |
| 14 | g.49622217C>A | CA389621133 | MGAT2 | c.949C>A (p.His317Asn) | |
| 14 | g.49622217C>G | CA389621135 | MGAT2 | c.949C>G (p.His317Asp) | gnomAD v4 |
| 14 | g.49622217C>T | CA389621137 | MGAT2 | c.949C>T (p.His317Tyr) | |
| 14 | g.49622218A= | CA2135804856 | MGAT2 | c.950A= (p.His317=) | |
| 14 | g.49622218A>C | CA389621139 | MGAT2 | c.950A>C (p.His317Pro) | |
| 14 | g.49622218A>G | CA389621141 | MGAT2 | c.950A>G (p.His317Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622218A>T | CA389621143 | MGAT2 | c.950A>T (p.His317Leu) | |
| 14 | g.49622219C>A | CA389621146 | MGAT2 | c.951C>A (p.His317Gln) | |
| 14 | g.49622219C= | CA2135804857 | MGAT2 | c.951C= (p.His317=) | |
| 14 | g.49622219C>G | CA389621148 | MGAT2 | c.951C>G (p.His317Gln) | |
| 14 | g.49622219C>T | CA486350012 | MGAT2 | c.951C>T (p.His317=) | dbSNP gnomAD v4 |
| 14 | g.49622220A= | CA2135804858 | MGAT2 | c.952A= (p.Asn318=) | |
| 14 | g.49622220A>C | CA389621150 | MGAT2 | c.952A>C (p.Asn318His) | |
| 14 | g.49622220A>G | CA254038 | MGAT2 | c.952A>G (p.Asn318Asp) | ClinVar dbSNP |
| 14 | g.49622220A>T | CA389621153 | MGAT2 | c.952A>T (p.Asn318Tyr) | |
| 14 | g.49622221A= | CA2135804860 | MGAT2 | c.953A= (p.Asn318=) | |
| 14 | g.49622221A>C | CA389621158 | MGAT2 | c.953A>C (p.Asn318Thr) | |
| 14 | g.49622221A>G | CA7172623 | MGAT2 | c.953A>G (p.Asn318Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622221A>T | CA389621156 | MGAT2 | c.953A>T (p.Asn318Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622221_49622222delinsAT | CA2135804859 | MGAT2 | c.953_954delinsAT (p.Asn318=) | |
| 14 | g.49622222del | CA7172624 | MGAT2 | c.954del (p.Asn318LysfsTer4) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49622222T>A | CA389621161 | MGAT2 | c.954T>A (p.Asn318Lys) | |
| 14 | g.49622222T>C | CA7172625 | MGAT2 | c.954T>C (p.Asn318=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622222T>G | CA389621164 | MGAT2 | c.954T>G (p.Asn318Lys) | |
| 14 | g.49622222T= | CA2135804861 | MGAT2 | c.954T= (p.Asn318=) | |
| 14 | g.49622223A>C | CA389621166 | MGAT2 | c.955A>C (p.Met319Leu) | |
| 14 | g.49622223A>G | CA389621168 | MGAT2 | c.955A>G (p.Met319Val) | |
| 14 | g.49622223A>T | CA389621169 | MGAT2 | c.955A>T (p.Met319Leu) | |
| 14 | g.49622224T>A | CA389621172 | MGAT2 | c.956T>A (p.Met319Lys) | |
| 14 | g.49622224T>C | CA389621174 | MGAT2 | c.956T>C (p.Met319Thr) | |
| 14 | g.49622224T>G | CA389621176 | MGAT2 | c.956T>G (p.Met319Arg) | |
| 14 | g.49622225G>A | CA389621179 | MGAT2 | c.957G>A (p.Met319Ile) | |
| 14 | g.49622225G>C | CA389621181 | MGAT2 | c.957G>C (p.Met319Ile) | |
| 14 | g.49622225G>T | CA389621182 | MGAT2 | c.957G>T (p.Met319Ile) | |
| 14 | g.49622226G>A | CA389621185 | MGAT2 | c.958G>A (p.Gly320Ser) | |
| 14 | g.49622226G>C | CA389621187 | MGAT2 | c.958G>C (p.Gly320Arg) | |
| 14 | g.49622226G>T | CA389621184 | MGAT2 | c.958G>T (p.Gly320Cys) | |
| 14 | g.49622227G>A | CA389621192 | MGAT2 | c.959G>A (p.Gly320Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49622227G>C | CA389621189 | MGAT2 | c.959G>C (p.Gly320Ala) | |
| 14 | g.49622227G= | CA2135804862 | MGAT2 | c.959G= (p.Gly320=) | |
| 14 | g.49622227G>T | CA389621191 | MGAT2 | c.959G>T (p.Gly320Val) | |
| 14 | g.49622228T>A | CA486350026 | MGAT2 | c.960T>A (p.Gly320=) | |
| 14 | g.49622228T>C | CA486350028 | MGAT2 | c.960T>C (p.Gly320=) | |
| 14 | g.49622228T>G | CA486350030 | MGAT2 | c.960T>G (p.Gly320=) |