UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.49622020A= | CA2135804776 | MGAT2 | c.752A= (p.Tyr251=) | |
| 14 | g.49622020A>C | CA389620290 | MGAT2 | c.752A>C (p.Tyr251Ser) | gnomAD v4 |
| 14 | g.49622020A>G | CA389620291 | MGAT2 | c.752A>G (p.Tyr251Cys) | |
| 14 | g.49622020A>T | CA389620293 | MGAT2 | c.752A>T (p.Tyr251Phe) | |
| 14 | g.49622021T>A | CA389620297 | MGAT2 | c.753T>A (p.Tyr251Ter) | |
| 14 | g.49622021T>C | CA486349869 | MGAT2 | c.753T>C (p.Tyr251=) | gnomAD v4 |
| 14 | g.49622021T>G | CA389620295 | MGAT2 | c.753T>G (p.Tyr251Ter) | |
| 14 | g.49622021dup | CA913190931 | MGAT2 | c.753dup (p.Ala252CysfsTer?) | ClinVar dbSNP |
| 14 | g.49622022G>A | CA389620300 | MGAT2 | c.754G>A (p.Ala252Thr) | |
| 14 | g.49622022G>C | CA389620308 | MGAT2 | c.754G>C (p.Ala252Pro) | |
| 14 | g.49622022G>T | CA389620302 | MGAT2 | c.754G>T (p.Ala252Ser) | |
| 14 | g.49622023C>A | CA7172596 | MGAT2 | c.755C>A (p.Ala252Asp) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 14 | g.49622023C= | CA2135804777 | MGAT2 | c.755C= (p.Ala252=) | |
| 14 | g.49622023C>G | CA389620312 | MGAT2 | c.755C>G (p.Ala252Gly) | |
| 14 | g.49622023C>T | CA389620315 | MGAT2 | c.755C>T (p.Ala252Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622024T>A | CA486349875 | MGAT2 | c.756T>A (p.Ala252=) | |
| 14 | g.49622024T>C | CA486349877 | MGAT2 | c.756T>C (p.Ala252=) | |
| 14 | g.49622024T>G | CA486349876 | MGAT2 | c.756T>G (p.Ala252=) | |
| 14 | g.49622025G>A | CA389620319 | MGAT2 | c.757G>A (p.Gly253Ser) | |
| 14 | g.49622025G>C | CA389620321 | MGAT2 | c.757G>C (p.Gly253Arg) | |
| 14 | g.49622025G>T | CA389620323 | MGAT2 | c.757G>T (p.Gly253Cys) | |
| 14 | g.49622026G>A | CA389620327 | MGAT2 | c.758G>A (p.Gly253Asp) | |
| 14 | g.49622026G>C | CA389620328 | MGAT2 | c.758G>C (p.Gly253Ala) | gnomAD v4 |
| 14 | g.49622026G>T | CA389620329 | MGAT2 | c.758G>T (p.Gly253Val) | |
| 14 | g.49622027C>A | CA486349882 | MGAT2 | c.759C>A (p.Gly253=) | |
| 14 | g.49622027C>G | CA486349881 | MGAT2 | c.759C>G (p.Gly253=) | |
| 14 | g.49622027C>T | CA486349880 | MGAT2 | c.759C>T (p.Gly253=) | |
| 14 | g.49622028C>A | CA389620332 | MGAT2 | c.760C>A (p.Leu254Ile) | |
| 14 | g.49622028C= | CA2135804778 | MGAT2 | c.760C= (p.Leu254=) | |
| 14 | g.49622028C>G | CA389620335 | MGAT2 | c.760C>G (p.Leu254Val) | |
| 14 | g.49622028C>T | CA389620338 | MGAT2 | c.760C>T (p.Leu254Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49622029T>A | CA389620343 | MGAT2 | c.761T>A (p.Leu254His) | |
| 14 | g.49622029T>C | CA389620342 | MGAT2 | c.761T>C (p.Leu254Pro) | |
| 14 | g.49622029T>G | CA389620340 | MGAT2 | c.761T>G (p.Leu254Arg) | |
| 14 | g.49622030T>A | CA486349886 | MGAT2 | c.762T>A (p.Leu254=) | |
| 14 | g.49622030T>C | CA486349890 | MGAT2 | c.762T>C (p.Leu254=) | |
| 14 | g.49622030T>G | CA486349888 | MGAT2 | c.762T>G (p.Leu254=) | |
| 14 | g.49622031A>C | CA389620346 | MGAT2 | c.763A>C (p.Ile255Leu) | |
| 14 | g.49622031A>G | CA389620348 | MGAT2 | c.763A>G (p.Ile255Val) | dbSNP |
| 14 | g.49622031A>T | CA389620349 | MGAT2 | c.763A>T (p.Ile255Leu) | gnomAD v4 |
| 14 | g.49622032T>A | CA389620352 | MGAT2 | c.764T>A (p.Ile255Lys) | |
| 14 | g.49622032T>C | CA7172597 | MGAT2 | c.764T>C (p.Ile255Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622032T>G | CA389620354 | MGAT2 | c.764T>G (p.Ile255Arg) | |
| 14 | g.49622032T= | CA2135804779 | MGAT2 | c.764T= (p.Ile255=) | |
| 14 | g.49622033A= | CA2135804780 | MGAT2 | c.765A= (p.Ile255=) | |
| 14 | g.49622033A>C | CA486349897 | MGAT2 | c.765A>C (p.Ile255=) | |
| 14 | g.49622033A>G | CA7172598 | MGAT2 | c.765A>G (p.Ile255Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622033A>T | CA486349899 | MGAT2 | c.765A>T (p.Ile255=) | |
| 14 | g.49622034_49622044del | CA2624726680 | MGAT2 | c.766_776del (p.Leu256ArgfsTer26) | gnomAD v4 |
| 14 | g.49622034C>A | CA389620358 | MGAT2 | c.766C>A (p.Leu256Ile) | |
| 14 | g.49622034C= | CA2135804781 | MGAT2 | c.766C= (p.Leu256=) | |
| 14 | g.49622034C>G | CA7172599 | MGAT2 | c.766C>G (p.Leu256Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49622034C>T | CA389620360 | MGAT2 | c.766C>T (p.Leu256Phe) | gnomAD v4 |
| 14 | g.49622035T>A | CA389620362 | MGAT2 | c.767T>A (p.Leu256His) | |
| 14 | g.49622035T>C | CA389620363 | MGAT2 | c.767T>C (p.Leu256Pro) | |
| 14 | g.49622035T>G | CA389620365 | MGAT2 | c.767T>G (p.Leu256Arg) | |
| 14 | g.49622038dup | CA2135804782 | MGAT2 | c.770dup (p.Leu258ProfsTer28) | dbSNP |
| 14 | g.49622036T>A | CA486349904 | MGAT2 | c.768T>A (p.Leu256=) | |
| 14 | g.49622036T>C | CA486349906 | MGAT2 | c.768T>C (p.Leu256=) | |
| 14 | g.49622036T>G | CA7172600 | MGAT2 | c.768T>G (p.Leu256=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622036T= | CA2135804783 | MGAT2 | c.768T= (p.Leu256=) | |
| 14 | g.49622037T>A | CA389620372 | MGAT2 | c.769T>A (p.Phe257Ile) | |
| 14 | g.49622037T>C | CA389620368 | MGAT2 | c.769T>C (p.Phe257Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49622037T>G | CA389620370 | MGAT2 | c.769T>G (p.Phe257Val) | |
| 14 | g.49622037T= | CA2135804784 | MGAT2 | c.769T= (p.Phe257=) | |
| 14 | g.49622038T>A | CA389620373 | MGAT2 | c.770T>A (p.Phe257Tyr) | |
| 14 | g.49622038T>C | CA389620374 | MGAT2 | c.770T>C (p.Phe257Ser) | |
| 14 | g.49622038T>G | CA389620377 | MGAT2 | c.770T>G (p.Phe257Cys) | |
| 14 | g.49622039C>A | CA389620379 | MGAT2 | c.771C>A (p.Phe257Leu) | |
| 14 | g.49622039C>G | CA389620381 | MGAT2 | c.771C>G (p.Phe257Leu) | |
| 14 | g.49622039C>T | CA486349912 | MGAT2 | c.771C>T (p.Phe257=) | COSMIC |
| 14 | g.49622040C>A | CA389620383 | MGAT2 | c.772C>A (p.Leu258Ile) | |
| 14 | g.49622040C= | CA2135804785 | MGAT2 | c.772C= (p.Leu258=) | |
| 14 | g.49622040C>G | CA389620385 | MGAT2 | c.772C>G (p.Leu258Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622040C>T | CA486349913 | MGAT2 | c.772C>T (p.Leu258=) | gnomAD v4 |
| 14 | g.49622041T>A | CA389620387 | MGAT2 | c.773T>A (p.Leu258Gln) | |
| 14 | g.49622041T>C | CA389620389 | MGAT2 | c.773T>C (p.Leu258Pro) | gnomAD v4 |
| 14 | g.49622041T>G | CA389620391 | MGAT2 | c.773T>G (p.Leu258Arg) | dbSNP gnomAD v2 |
| 14 | g.49622041T= | CA2135804786 | MGAT2 | c.773T= (p.Leu258=) | |
| 14 | g.49622042A>C | CA486349918 | MGAT2 | c.774A>C (p.Leu258=) | |
| 14 | g.49622042A>G | CA486349921 | MGAT2 | c.774A>G (p.Leu258=) | |
| 14 | g.49622042A>T | CA486349923 | MGAT2 | c.774A>T (p.Leu258=) | |
| 14 | g.49622043G>A | CA389620395 | MGAT2 | c.775G>A (p.Glu259Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622043G>C | CA389620396 | MGAT2 | c.775G>C (p.Glu259Gln) | |
| 14 | g.49622043G= | CA2135804787 | MGAT2 | c.775G= (p.Glu259=) | |
| 14 | g.49622043G>T | CA389620393 | MGAT2 | c.775G>T (p.Glu259Ter) | |
| 14 | g.49622044A>C | CA389620399 | MGAT2 | c.776A>C (p.Glu259Ala) | |
| 14 | g.49622044A>G | CA389620401 | MGAT2 | c.776A>G (p.Glu259Gly) | |
| 14 | g.49622044A>T | CA389620403 | MGAT2 | c.776A>T (p.Glu259Val) | |
| 14 | g.49622045A= | CA2135804788 | MGAT2 | c.777A= (p.Glu259=) | |
| 14 | g.49622045A>C | CA389620404 | MGAT2 | c.777A>C (p.Glu259Asp) | |
| 14 | g.49622045A>G | CA7172601 | MGAT2 | c.777A>G (p.Glu259=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622045A>T | CA389620406 | MGAT2 | c.777A>T (p.Glu259Asp) | |
| 14 | g.49622047_49622048del | CA2624726681 | MGAT2 | c.779_780del (p.Glu260GlyfsTer25) | gnomAD v4 |
| 14 | g.49622046G>A | CA389620409 | MGAT2 | c.778G>A (p.Glu260Lys) | |
| 14 | g.49622046G>C | CA389620412 | MGAT2 | c.778G>C (p.Glu260Gln) | |
| 14 | g.49622046G>T | CA389620411 | MGAT2 | c.778G>T (p.Glu260Ter) | |
| 14 | g.49622047A= | CA2135804789 | MGAT2 | c.779A= (p.Glu260=) | |
| 14 | g.49622047A>C | CA389620415 | MGAT2 | c.779A>C (p.Glu260Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49622047A>G | CA389620417 | MGAT2 | c.779A>G (p.Glu260Gly) | |
| 14 | g.49622047A>T | CA389620419 | MGAT2 | c.779A>T (p.Glu260Val) | |
| 14 | g.49622048G>A | CA486350074 | MGAT2 | c.780G>A (p.Glu260=) | gnomAD v4 |
| 14 | g.49622048G>C | CA389620421 | MGAT2 | c.780G>C (p.Glu260Asp) | |
| 14 | g.49622048G>T | CA389620422 | MGAT2 | c.780G>T (p.Glu260Asp) | |
| 14 | g.49622049G>A | CA389620427 | MGAT2 | c.781G>A (p.Asp261Asn) | |
| 14 | g.49622049G>C | CA389620428 | MGAT2 | c.781G>C (p.Asp261His) | |
| 14 | g.49622049G>T | CA389620425 | MGAT2 | c.781G>T (p.Asp261Tyr) | ClinVar gnomAD v4 |
| 14 | g.49622050A= | CA2135804790 | MGAT2 | c.782A= (p.Asp261=) | |
| 14 | g.49622050A>C | CA389620433 | MGAT2 | c.782A>C (p.Asp261Ala) | gnomAD v4 |
| 14 | g.49622050A>G | CA389620431 | MGAT2 | c.782A>G (p.Asp261Gly) | |
| 14 | g.49622050A>T | CA389620435 | MGAT2 | c.782A>T (p.Asp261Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622051T>A | CA389620437 | MGAT2 | c.783T>A (p.Asp261Glu) | |
| 14 | g.49622051T>C | CA486350084 | MGAT2 | c.783T>C (p.Asp261=) | |
| 14 | g.49622051T>G | CA389620439 | MGAT2 | c.783T>G (p.Asp261Glu) | |
| 14 | g.49622052C>A | CA389620441 | MGAT2 | c.784C>A (p.His262Asn) | |
| 14 | g.49622052C>G | CA389620445 | MGAT2 | c.784C>G (p.His262Asp) | |
| 14 | g.49622052C>T | CA389620443 | MGAT2 | c.784C>T (p.His262Tyr) | |
| 14 | g.49622053A= | CA2135804791 | MGAT2 | c.785A= (p.His262=) | |
| 14 | g.49622053A>C | CA389620447 | MGAT2 | c.785A>C (p.His262Pro) | gnomAD v4 |
| 14 | g.49622053A>G | CA254037 | MGAT2 | c.785A>G (p.His262Arg) | ClinVar dbSNP |
| 14 | g.49622053A>T | CA389620449 | MGAT2 | c.785A>T (p.His262Leu) | |
| 14 | g.49622054C>A | CA389620451 | MGAT2 | c.786C>A (p.His262Gln) | |
| 14 | g.49622054C= | CA2135804792 | MGAT2 | c.786C= (p.His262=) | |
| 14 | g.49622054C>G | CA389620453 | MGAT2 | c.786C>G (p.His262Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49622054C>T | CA486350089 | MGAT2 | c.786C>T (p.His262=) | gnomAD v4 |
| 14 | g.49622055T>A | CA389620455 | MGAT2 | c.787T>A (p.Tyr263Asn) | |
| 14 | g.49622055T>C | CA389620457 | MGAT2 | c.787T>C (p.Tyr263His) | |
| 14 | g.49622055T>G | CA389620459 | MGAT2 | c.787T>G (p.Tyr263Asp) | |
| 14 | g.49622056A= | CA2135804793 | MGAT2 | c.788A= (p.Tyr263=) | |
| 14 | g.49622056A>C | CA389620460 | MGAT2 | c.788A>C (p.Tyr263Ser) | |
| 14 | g.49622056A>G | CA389620463 | MGAT2 | c.788A>G (p.Tyr263Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622056A>T | CA389620461 | MGAT2 | c.788A>T (p.Tyr263Phe) | |
| 14 | g.49622057C>A | CA389620466 | MGAT2 | c.789C>A (p.Tyr263Ter) | |
| 14 | g.49622057C>G | CA389620467 | MGAT2 | c.789C>G (p.Tyr263Ter) | |
| 14 | g.49622057C>T | CA486350094 | MGAT2 | c.789C>T (p.Tyr263=) | |
| 14 | g.49622058T>A | CA389620470 | MGAT2 | c.790T>A (p.Leu264Ile) | |
| 14 | g.49622058T>C | CA486350095 | MGAT2 | c.790T>C (p.Leu264=) | |
| 14 | g.49622058T>G | CA389620471 | MGAT2 | c.790T>G (p.Leu264Val) | gnomAD v4 |
| 14 | g.49622059T>A | CA389620474 | MGAT2 | c.791T>A (p.Leu264Ter) | gnomAD v4 |
| 14 | g.49622059T>C | CA389620478 | MGAT2 | c.791T>C (p.Leu264Ser) | |
| 14 | g.49622059T>G | CA389620476 | MGAT2 | c.791T>G (p.Leu264Ter) | |
| 14 | g.49622060A>C | CA389620480 | MGAT2 | c.792A>C (p.Leu264Phe) | |
| 14 | g.49622060A>G | CA486350096 | MGAT2 | c.792A>G (p.Leu264=) | |
| 14 | g.49622060A>T | CA389620482 | MGAT2 | c.792A>T (p.Leu264Phe) | |
| 14 | g.49622061G>A | CA389620484 | MGAT2 | c.793G>A (p.Ala265Thr) | |
| 14 | g.49622061G>C | CA389620486 | MGAT2 | c.793G>C (p.Ala265Pro) | |
| 14 | g.49622061G= | CA2135804794 | MGAT2 | c.793G= (p.Ala265=) | |
| 14 | g.49622061G>T | CA260660788 | MGAT2 | c.793G>T (p.Ala265Ser) | dbSNP |
| 14 | g.49622062C>A | CA389620488 | MGAT2 | c.794C>A (p.Ala265Asp) | |
| 14 | g.49622062C= | CA2135804795 | MGAT2 | c.794C= (p.Ala265=) | |
| 14 | g.49622062C>G | CA389620490 | MGAT2 | c.794C>G (p.Ala265Gly) | |
| 14 | g.49622062C>T | CA389620492 | MGAT2 | c.794C>T (p.Ala265Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622063C>A | CA486350102 | MGAT2 | c.795C>A (p.Ala265=) | |
| 14 | g.49622063C>G | CA486350104 | MGAT2 | c.795C>G (p.Ala265=) | |
| 14 | g.49622063C>T | CA486350105 | MGAT2 | c.795C>T (p.Ala265=) | |
| 14 | g.49622064C>A | CA389620494 | MGAT2 | c.796C>A (p.Pro266Thr) | |
| 14 | g.49622064C>G | CA389620495 | MGAT2 | c.796C>G (p.Pro266Ala) | gnomAD v4 |
| 14 | g.49622064C>T | CA389620497 | MGAT2 | c.796C>T (p.Pro266Ser) | |
| 14 | g.49622065C>A | CA389620499 | MGAT2 | c.797C>A (p.Pro266Gln) | |
| 14 | g.49622065C= | CA2135804797 | MGAT2 | c.797C= (p.Pro266=) | |
| 14 | g.49622065C>G | CA389620503 | MGAT2 | c.797C>G (p.Pro266Arg) | |
| 14 | g.49622065C>T | CA389620501 | MGAT2 | c.797C>T (p.Pro266Leu) | ClinVar dbSNP |
| 14 | g.49622065_49622067delinsCAG | CA2135804796 | MGAT2 | c.797_799delinsCAG (p.Pro266=) | |
| 14 | g.49622066A>C | CA486350114 | MGAT2 | c.798A>C (p.Pro266=) | |
| 14 | g.49622066A>G | CA486350111 | MGAT2 | c.798A>G (p.Pro266=) | |
| 14 | g.49622066A>T | CA486350112 | MGAT2 | c.798A>T (p.Pro266=) | |
| 14 | g.49622067_49622068del | CA7172602 | MGAT2 | c.799_800del (p.Asp267LeufsTer18) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49622067G>A | CA389620506 | MGAT2 | c.799G>A (p.Asp267Asn) | |
| 14 | g.49622067G>C | CA389620508 | MGAT2 | c.799G>C (p.Asp267His) | ClinVar dbSNP |
| 14 | g.49622067G= | CA2135804798 | MGAT2 | c.799G= (p.Asp267=) | |
| 14 | g.49622067G>T | CA389620510 | MGAT2 | c.799G>T (p.Asp267Tyr) | |
| 14 | g.49622068A>C | CA389620512 | MGAT2 | c.800A>C (p.Asp267Ala) | |
| 14 | g.49622068A>G | CA389620514 | MGAT2 | c.800A>G (p.Asp267Gly) | |
| 14 | g.49622068A>T | CA389620516 | MGAT2 | c.800A>T (p.Asp267Val) | |
| 14 | g.49622069C>A | CA389620518 | MGAT2 | c.801C>A (p.Asp267Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622069C= | CA2135804799 | MGAT2 | c.801C= (p.Asp267=) | |
| 14 | g.49622069C>G | CA389620520 | MGAT2 | c.801C>G (p.Asp267Glu) | |
| 14 | g.49622069C>T | CA486350123 | MGAT2 | c.801C>T (p.Asp267=) | |
| 14 | g.49622070T>A | CA389620522 | MGAT2 | c.802T>A (p.Phe268Ile) | |
| 14 | g.49622070T>C | CA389620524 | MGAT2 | c.802T>C (p.Phe268Leu) | |
| 14 | g.49622070T>G | CA389620526 | MGAT2 | c.802T>G (p.Phe268Val) | |
| 14 | g.49622071T>A | CA389620531 | MGAT2 | c.803T>A (p.Phe268Tyr) | |
| 14 | g.49622071T>C | CA389620528 | MGAT2 | c.803T>C (p.Phe268Ser) | |
| 14 | g.49622071T>G | CA389620529 | MGAT2 | c.803T>G (p.Phe268Cys) | |
| 14 | g.49622072T>A | CA389620533 | MGAT2 | c.804T>A (p.Phe268Leu) | |
| 14 | g.49622072T>C | CA486350129 | MGAT2 | c.804T>C (p.Phe268=) | gnomAD v4 |
| 14 | g.49622072T>G | CA389620535 | MGAT2 | c.804T>G (p.Phe268Leu) | |
| 14 | g.49622073T>A | CA389620537 | MGAT2 | c.805T>A (p.Tyr269Asn) | gnomAD v4 |
| 14 | g.49622073T>C | CA7172603 | MGAT2 | c.805T>C (p.Tyr269His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622073T>G | CA389620540 | MGAT2 | c.805T>G (p.Tyr269Asp) | |
| 14 | g.49622073T= | CA2135804800 | MGAT2 | c.805T= (p.Tyr269=) | |
| 14 | g.49622074A>C | CA389620543 | MGAT2 | c.806A>C (p.Tyr269Ser) | |
| 14 | g.49622074A>G | CA389620544 | MGAT2 | c.806A>G (p.Tyr269Cys) | |
| 14 | g.49622074A>T | CA389620546 | MGAT2 | c.806A>T (p.Tyr269Phe) | |
| 14 | g.49622075C>A | CA389620547 | MGAT2 | c.807C>A (p.Tyr269Ter) | |
| 14 | g.49622075C>G | CA389620549 | MGAT2 | c.807C>G (p.Tyr269Ter) | |
| 14 | g.49622075C>T | CA486350133 | MGAT2 | c.807C>T (p.Tyr269=) | |
| 14 | g.49622076C>A | CA389620556 | MGAT2 | c.808C>A (p.His270Asn) | |
| 14 | g.49622076C>G | CA389620554 | MGAT2 | c.808C>G (p.His270Asp) | |
| 14 | g.49622076C>T | CA389620552 | MGAT2 | c.808C>T (p.His270Tyr) | |
| 14 | g.49622077A>C | CA389620558 | MGAT2 | c.809A>C (p.His270Pro) | |
| 14 | g.49622077A>G | CA389620562 | MGAT2 | c.809A>G (p.His270Arg) | |
| 14 | g.49622077A>T | CA389620560 | MGAT2 | c.809A>T (p.His270Leu) | ClinVar |
| 14 | g.49622078T>A | CA389620565 | MGAT2 | c.810T>A (p.His270Gln) | |
| 14 | g.49622078T>C | CA486350140 | MGAT2 | c.810T>C (p.His270=) | |
| 14 | g.49622078T>G | CA389620566 | MGAT2 | c.810T>G (p.His270Gln) | |
| 14 | g.49622079G>A | CA389620568 | MGAT2 | c.811G>A (p.Val271Ile) | gnomAD v4 |
| 14 | g.49622079G>C | CA389620570 | MGAT2 | c.811G>C (p.Val271Leu) | |
| 14 | g.49622079G>T | CA389620572 | MGAT2 | c.811G>T (p.Val271Phe) | |
| 14 | g.49622080T>A | CA389620574 | MGAT2 | c.812T>A (p.Val271Asp) | |
| 14 | g.49622080T>C | CA389620576 | MGAT2 | c.812T>C (p.Val271Ala) | |
| 14 | g.49622080T>G | CA389620578 | MGAT2 | c.812T>G (p.Val271Gly) | |
| 14 | g.49622081C>A | CA486350144 | MGAT2 | c.813C>A (p.Val271=) | gnomAD v4 |
| 14 | g.49622081C= | CA2135804801 | MGAT2 | c.813C= (p.Val271=) | |
| 14 | g.49622081C>G | CA486350149 | MGAT2 | c.813C>G (p.Val271=) | |
| 14 | g.49622081C>T | CA486350147 | MGAT2 | c.813C>T (p.Val271=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622082T>A | CA389620580 | MGAT2 | c.814T>A (p.Phe272Ile) | |
| 14 | g.49622082T>C | CA389620582 | MGAT2 | c.814T>C (p.Phe272Leu) | ClinVar |
| 14 | g.49622082T>G | CA389620584 | MGAT2 | c.814T>G (p.Phe272Val) | |
| 14 | g.49622083T>A | CA389620590 | MGAT2 | c.815T>A (p.Phe272Tyr) | |
| 14 | g.49622083T>C | CA389620586 | MGAT2 | c.815T>C (p.Phe272Ser) | |
| 14 | g.49622083T>G | CA389620588 | MGAT2 | c.815T>G (p.Phe272Cys) | |
| 14 | g.49622084C>A | CA389620592 | MGAT2 | c.816C>A (p.Phe272Leu) | |
| 14 | g.49622084C>G | CA389620593 | MGAT2 | c.816C>G (p.Phe272Leu) | |
| 14 | g.49622084C>T | CA486350154 | MGAT2 | c.816C>T (p.Phe272=) | |
| 14 | g.49622085A>C | CA389620596 | MGAT2 | c.817A>C (p.Lys273Gln) | |
| 14 | g.49622085A>G | CA389620598 | MGAT2 | c.817A>G (p.Lys273Glu) | |
| 14 | g.49622085A>T | CA389620600 | MGAT2 | c.817A>T (p.Lys273Ter) | |
| 14 | g.49622086A= | CA2135804802 | MGAT2 | c.818A= (p.Lys273=) | |
| 14 | g.49622086A>C | CA389620602 | MGAT2 | c.818A>C (p.Lys273Thr) | |
| 14 | g.49622086A>G | CA389620604 | MGAT2 | c.818A>G (p.Lys273Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49622086A>T | CA389620606 | MGAT2 | c.818A>T (p.Lys273Ile) | |
| 14 | g.49622087A>C | CA389620608 | MGAT2 | c.819A>C (p.Lys273Asn) | |
| 14 | g.49622087A>G | CA486350161 | MGAT2 | c.819A>G (p.Lys273=) | |
| 14 | g.49622087A>T | CA389620610 | MGAT2 | c.819A>T (p.Lys273Asn) | |
| 14 | g.49622088A>C | CA389620614 | MGAT2 | c.820A>C (p.Lys274Gln) | gnomAD v4 |
| 14 | g.49622088A>G | CA389620616 | MGAT2 | c.820A>G (p.Lys274Glu) | gnomAD v4 |
| 14 | g.49622088A>T | CA389620612 | MGAT2 | c.820A>T (p.Lys274Ter) | |
| 14 | g.49622089A= | CA2135804803 | MGAT2 | c.821A= (p.Lys274=) | |
| 14 | g.49622089A>C | CA389620618 | MGAT2 | c.821A>C (p.Lys274Thr) | |
| 14 | g.49622089A>G | CA389620620 | MGAT2 | c.821A>G (p.Lys274Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49622089A>T | CA389620622 | MGAT2 | c.821A>T (p.Lys274Met) | |
| 14 | g.49622090G>A | CA486350164 | MGAT2 | c.822G>A (p.Lys274=) | |
| 14 | g.49622090G>C | CA389620624 | MGAT2 | c.822G>C (p.Lys274Asn) | |
| 14 | g.49622090G>T | CA389620626 | MGAT2 | c.822G>T (p.Lys274Asn) | |
| 14 | g.49622091_49622093dup | CA2624726683 | MGAT2 | c.823_825dup (p.Met275_Trp276insMet) | gnomAD v4 |
| 14 | g.49622091A= | CA2135804804 | MGAT2 | c.823A= (p.Met275=) | |
| 14 | g.49622091A>C | CA389620631 | MGAT2 | c.823A>C (p.Met275Leu) | |
| 14 | g.49622091A>G | CA389620629 | MGAT2 | c.823A>G (p.Met275Val) | |
| 14 | g.49622091A>T | CA7172604 | MGAT2 | c.823A>T (p.Met275Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622092T>A | CA389620633 | MGAT2 | c.824T>A (p.Met275Lys) | |
| 14 | g.49622092T>C | CA389620634 | MGAT2 | c.824T>C (p.Met275Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49622092T>G | CA389620637 | MGAT2 | c.824T>G (p.Met275Arg) | |
| 14 | g.49622092T= | CA2135804805 | MGAT2 | c.824T= (p.Met275=) | |
| 14 | g.49622093G>A | CA389620639 | MGAT2 | c.825G>A (p.Met275Ile) | |
| 14 | g.49622093G>C | CA389620641 | MGAT2 | c.825G>C (p.Met275Ile) | |
| 14 | g.49622093G>T | CA389620643 | MGAT2 | c.825G>T (p.Met275Ile) | gnomAD v4 |
| 14 | g.49622094T>A | CA389620645 | MGAT2 | c.826T>A (p.Trp276Arg) | |
| 14 | g.49622094T>C | CA389620648 | MGAT2 | c.826T>C (p.Trp276Arg) | dbSNP |
| 14 | g.49622094T>G | CA260660795 | MGAT2 | c.826T>G (p.Trp276Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49622094T= | CA2135804806 | MGAT2 | c.826T= (p.Trp276=) | |
| 14 | g.49622095G>A | CA389620650 | MGAT2 | c.827G>A (p.Trp276Ter) | |
| 14 | g.49622095G>C | CA389620652 | MGAT2 | c.827G>C (p.Trp276Ser) | |
| 14 | g.49622095G>T | CA389620653 | MGAT2 | c.827G>T (p.Trp276Leu) | |
| 14 | g.49622096del | CA2624726684 | MGAT2 | c.828del (p.Trp276Ter) | gnomAD v4 |
| 14 | g.49622096G>A | CA389620655 | MGAT2 | c.828G>A (p.Trp276Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622096G>C | CA389620657 | MGAT2 | c.828G>C (p.Trp276Cys) | |
| 14 | g.49622096G= | CA2135804807 | MGAT2 | c.828G= (p.Trp276=) | |
| 14 | g.49622096G>T | CA389620659 | MGAT2 | c.828G>T (p.Trp276Cys) | |
| 14 | g.49622097A>C | CA389620660 | MGAT2 | c.829A>C (p.Lys277Gln) | gnomAD v4 |
| 14 | g.49622097A>G | CA389620662 | MGAT2 | c.829A>G (p.Lys277Glu) | |
| 14 | g.49622097A>T | CA389620663 | MGAT2 | c.829A>T (p.Lys277Ter) | |
| 14 | g.49622099del | CA2624726685 | MGAT2 | c.831del (p.Lys277AsnfsTer2) | gnomAD v4 |
| 14 | g.49622098A>C | CA389620664 | MGAT2 | c.830A>C (p.Lys277Thr) | |
| 14 | g.49622098A>G | CA389620666 | MGAT2 | c.830A>G (p.Lys277Arg) | |
| 14 | g.49622098A>T | CA389620668 | MGAT2 | c.830A>T (p.Lys277Ile) | |
| 14 | g.49622099A>C | CA389620670 | MGAT2 | c.831A>C (p.Lys277Asn) | |
| 14 | g.49622099A>G | CA486350176 | MGAT2 | c.831A>G (p.Lys277=) | |
| 14 | g.49622099A>T | CA389620672 | MGAT2 | c.831A>T (p.Lys277Asn) | |
| 14 | g.49622100C>A | CA389620674 | MGAT2 | c.832C>A (p.Leu278Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622100C= | CA2135804808 | MGAT2 | c.832C= (p.Leu278=) | |
| 14 | g.49622100C>G | CA389620676 | MGAT2 | c.832C>G (p.Leu278Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622100C>T | CA486350177 | MGAT2 | c.832C>T (p.Leu278=) | |
| 14 | g.49622101T>A | CA389620677 | MGAT2 | c.833T>A (p.Leu278Gln) | |
| 14 | g.49622101T>C | CA389620679 | MGAT2 | c.833T>C (p.Leu278Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622101T>G | CA389620678 | MGAT2 | c.833T>G (p.Leu278Arg) | |
| 14 | g.49622101T= | CA2135804809 | MGAT2 | c.833T= (p.Leu278=) | |
| 14 | g.49622102G>A | CA486350185 | MGAT2 | c.834G>A (p.Leu278=) | ClinVar |
| 14 | g.49622102G>C | CA486350180 | MGAT2 | c.834G>C (p.Leu278=) | |
| 14 | g.49622102G>T | CA486350182 | MGAT2 | c.834G>T (p.Leu278=) | gnomAD v4 |
| 14 | g.49622103A>C | CA389620680 | MGAT2 | c.835A>C (p.Lys279Gln) | |
| 14 | g.49622103A>G | CA389620681 | MGAT2 | c.835A>G (p.Lys279Glu) | |
| 14 | g.49622103A>T | CA389620682 | MGAT2 | c.835A>T (p.Lys279Ter) | |
| 14 | g.49622104A>C | CA389620683 | MGAT2 | c.836A>C (p.Lys279Thr) | |
| 14 | g.49622104A>G | CA389620684 | MGAT2 | c.836A>G (p.Lys279Arg) | gnomAD v4 |
| 14 | g.49622104A>T | CA389620685 | MGAT2 | c.836A>T (p.Lys279Met) | |
| 14 | g.49622105G>A | CA486350189 | MGAT2 | c.837G>A (p.Lys279=) | |
| 14 | g.49622105G>C | CA389620686 | MGAT2 | c.837G>C (p.Lys279Asn) | |
| 14 | g.49622105G>T | CA389620687 | MGAT2 | c.837G>T (p.Lys279Asn) | |
| 14 | g.49622106C>A | CA389620688 | MGAT2 | c.838C>A (p.Gln280Lys) | |
| 14 | g.49622106C>G | CA389620689 | MGAT2 | c.838C>G (p.Gln280Glu) | gnomAD v4 |
| 14 | g.49622106C>T | CA389620690 | MGAT2 | c.838C>T (p.Gln280Ter) | |
| 14 | g.49622107A>C | CA389620693 | MGAT2 | c.839A>C (p.Gln280Pro) | |
| 14 | g.49622107A>G | CA389620691 | MGAT2 | c.839A>G (p.Gln280Arg) | gnomAD v4 |
| 14 | g.49622107A>T | CA389620692 | MGAT2 | c.839A>T (p.Gln280Leu) | |
| 14 | g.49622108G>A | CA486350192 | MGAT2 | c.840G>A (p.Gln280=) | |
| 14 | g.49622108G>C | CA7172605 | MGAT2 | c.840G>C (p.Gln280His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622108G= | CA2135804810 | MGAT2 | c.840G= (p.Gln280=) | |
| 14 | g.49622108G>T | CA389620694 | MGAT2 | c.840G>T (p.Gln280His) | |
| 14 | g.49622109C>A | CA389620695 | MGAT2 | c.841C>A (p.Gln281Lys) | |
| 14 | g.49622109C>G | CA389620696 | MGAT2 | c.841C>G (p.Gln281Glu) | |
| 14 | g.49622109C>T | CA389620698 | MGAT2 | c.841C>T (p.Gln281Ter) | dbSNP |
| 14 | g.49622110A= | CA2135804811 | MGAT2 | c.842A= (p.Gln281=) | |
| 14 | g.49622110A>C | CA389620700 | MGAT2 | c.842A>C (p.Gln281Pro) | ClinVar |
| 14 | g.49622110A>G | CA260660801 | MGAT2 | c.842A>G (p.Gln281Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622110A>T | CA389620703 | MGAT2 | c.842A>T (p.Gln281Leu) | |
| 14 | g.49622111A= | CA2135804812 | MGAT2 | c.843A= (p.Gln281=) | |
| 14 | g.49622111A>C | CA389620705 | MGAT2 | c.843A>C (p.Gln281His) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622111A>G | CA486350198 | MGAT2 | c.843A>G (p.Gln281=) | |
| 14 | g.49622111A>T | CA389620706 | MGAT2 | c.843A>T (p.Gln281His) | |
| 14 | g.49622112G>A | CA389620712 | MGAT2 | c.844G>A (p.Glu282Lys) | gnomAD v4 |
| 14 | g.49622112G>C | CA389620710 | MGAT2 | c.844G>C (p.Glu282Gln) | |
| 14 | g.49622112G>T | CA389620709 | MGAT2 | c.844G>T (p.Glu282Ter) | |
| 14 | g.49622113A>C | CA389620714 | MGAT2 | c.845A>C (p.Glu282Ala) | |
| 14 | g.49622113A>G | CA389620716 | MGAT2 | c.845A>G (p.Glu282Gly) | |
| 14 | g.49622113A>T | CA389620717 | MGAT2 | c.845A>T (p.Glu282Val) | gnomAD v4 |
| 14 | g.49622114G>A | CA486350202 | MGAT2 | c.846G>A (p.Glu282=) | |
| 14 | g.49622114G>C | CA389620720 | MGAT2 | c.846G>C (p.Glu282Asp) | |
| 14 | g.49622114G>T | CA389620722 | MGAT2 | c.846G>T (p.Glu282Asp) | |
| 14 | g.49622115T>A | CA389620724 | MGAT2 | c.847T>A (p.Cys283Ser) | |
| 14 | g.49622115T>C | CA389620726 | MGAT2 | c.847T>C (p.Cys283Arg) | |
| 14 | g.49622115T>G | CA389620728 | MGAT2 | c.847T>G (p.Cys283Gly) | |
| 14 | g.49622116G>A | CA260660804 | MGAT2 | c.848G>A (p.Cys283Tyr) | ClinVar dbSNP |
| 14 | g.49622116G>C | CA389620731 | MGAT2 | c.848G>C (p.Cys283Ser) | COSMIC |
| 14 | g.49622116G= | CA2135804813 | MGAT2 | c.848G= (p.Cys283=) | |
| 14 | g.49622116G>T | CA389620733 | MGAT2 | c.848G>T (p.Cys283Phe) | gnomAD v4 |
| 14 | g.49622117C>A | CA389620735 | MGAT2 | c.849C>A (p.Cys283Ter) | |
| 14 | g.49622117C= | CA2135804814 | MGAT2 | c.849C= (p.Cys283=) | |
| 14 | g.49622117C>G | CA389620737 | MGAT2 | c.849C>G (p.Cys283Trp) | |
| 14 | g.49622117C>T | CA486350203 | MGAT2 | c.849C>T (p.Cys283=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49622118C>A | CA389620739 | MGAT2 | c.850C>A (p.Pro284Thr) | |
| 14 | g.49622118C= | CA2135804815 | MGAT2 | c.850C= (p.Pro284=) | |
| 14 | g.49622118C>G | CA7172607 | MGAT2 | c.850C>G (p.Pro284Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622118C>T | CA7172606 | MGAT2 | c.850C>T (p.Pro284Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49622119C>A | CA389620743 | MGAT2 | c.851C>A (p.Pro284His) | |
| 14 | g.49622119C>G | CA389620745 | MGAT2 | c.851C>G (p.Pro284Arg) | |
| 14 | g.49622119C>T | CA389620747 | MGAT2 | c.851C>T (p.Pro284Leu) | |
| 14 | g.49622120T>A | CA486350210 | MGAT2 | c.852T>A (p.Pro284=) | |
| 14 | g.49622120T>C | CA486350211 | MGAT2 | c.852T>C (p.Pro284=) | |
| 14 | g.49622120T>G | CA486350212 | MGAT2 | c.852T>G (p.Pro284=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49622120T= | CA2135804816 | MGAT2 | c.852T= (p.Pro284=) |