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.49621800C>A | CA389619362 | MGAT2 | c.532C>A (p.Pro178Thr) | |
| 14 | g.49621800C>G | CA389619363 | MGAT2 | c.532C>G (p.Pro178Ala) | |
| 14 | g.49621800C>T | CA389619364 | MGAT2 | c.532C>T (p.Pro178Ser) | |
| 14 | g.49621801C>A | CA389619365 | MGAT2 | c.533C>A (p.Pro178His) | |
| 14 | g.49621801C>G | CA389619366 | MGAT2 | c.533C>G (p.Pro178Arg) | |
| 14 | g.49621801C>T | CA389619367 | MGAT2 | c.533C>T (p.Pro178Leu) | |
| 14 | g.49621802T>A | CA486350163 | MGAT2 | c.534T>A (p.Pro178=) | |
| 14 | g.49621802T>C | CA486350165 | MGAT2 | c.534T>C (p.Pro178=) | |
| 14 | g.49621802T>G | CA486350166 | MGAT2 | c.534T>G (p.Pro178=) | |
| 14 | g.49621803T>A | CA389619368 | MGAT2 | c.535T>A (p.Phe179Ile) | |
| 14 | g.49621803T>C | CA389619370 | MGAT2 | c.535T>C (p.Phe179Leu) | |
| 14 | g.49621803T>G | CA389619369 | MGAT2 | c.535T>G (p.Phe179Val) | |
| 14 | g.49621804T>A | CA389619371 | MGAT2 | c.536T>A (p.Phe179Tyr) | |
| 14 | g.49621804T>C | CA389619372 | MGAT2 | c.536T>C (p.Phe179Ser) | |
| 14 | g.49621804T>G | CA389619373 | MGAT2 | c.536T>G (p.Phe179Cys) | |
| 14 | g.49621805C>A | CA389619374 | MGAT2 | c.537C>A (p.Phe179Leu) | |
| 14 | g.49621805C= | CA2135804659 | MGAT2 | c.537C= (p.Phe179=) | |
| 14 | g.49621805C>G | CA389619375 | MGAT2 | c.537C>G (p.Phe179Leu) | |
| 14 | g.49621805C>T | CA486350168 | MGAT2 | c.537C>T (p.Phe179=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49621806A= | CA2135804660 | MGAT2 | c.538A= (p.Ser180=) | |
| 14 | g.49621806A>C | CA389619376 | MGAT2 | c.538A>C (p.Ser180Arg) | |
| 14 | g.49621806A>G | CA7172567 | MGAT2 | c.538A>G (p.Ser180Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621806A>T | CA389619377 | MGAT2 | c.538A>T (p.Ser180Cys) | |
| 14 | g.49621807G>A | CA389619378 | MGAT2 | c.539G>A (p.Ser180Asn) | |
| 14 | g.49621807G>C | CA389619379 | MGAT2 | c.539G>C (p.Ser180Thr) | |
| 14 | g.49621807G>T | CA389619380 | MGAT2 | c.539G>T (p.Ser180Ile) | |
| 14 | g.49621808C>A | CA389619381 | MGAT2 | c.540C>A (p.Ser180Arg) | |
| 14 | g.49621808C>G | CA389619382 | MGAT2 | c.540C>G (p.Ser180Arg) | |
| 14 | g.49621808C>T | CA486350174 | MGAT2 | c.540C>T (p.Ser180=) | gnomAD v4 |
| 14 | g.49621809A= | CA2135804661 | MGAT2 | c.541A= (p.Ile181=) | |
| 14 | g.49621809A>C | CA389619385 | MGAT2 | c.541A>C (p.Ile181Leu) | |
| 14 | g.49621809A>G | CA389619383 | MGAT2 | c.541A>G (p.Ile181Val) | dbSNP gnomAD v4 |
| 14 | g.49621809A>T | CA389619384 | MGAT2 | c.541A>T (p.Ile181Phe) | |
| 14 | g.49621810T>A | CA389619386 | MGAT2 | c.542T>A (p.Ile181Asn) | |
| 14 | g.49621810T>C | CA389619387 | MGAT2 | c.542T>C (p.Ile181Thr) | |
| 14 | g.49621810T>G | CA389619388 | MGAT2 | c.542T>G (p.Ile181Ser) | |
| 14 | g.49621811T>A | CA486350178 | MGAT2 | c.543T>A (p.Ile181=) | |
| 14 | g.49621811T>C | CA486350179 | MGAT2 | c.543T>C (p.Ile181=) | |
| 14 | g.49621811T>G | CA389619389 | MGAT2 | c.543T>G (p.Ile181Met) | |
| 14 | g.49621812C>A | CA389619390 | MGAT2 | c.544C>A (p.Gln182Lys) | |
| 14 | g.49621812C= | CA2135804665 | MGAT2 | c.544C= (p.Gln182=) | |
| 14 | g.49621812C>G | CA7172568 | MGAT2 | c.544C>G (p.Gln182Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621812C>T | CA389619391 | MGAT2 | c.544C>T (p.Gln182Ter) | |
| 14 | g.49621813A= | CA2135804671 | MGAT2 | c.545A= (p.Gln182=) | |
| 14 | g.49621813A>C | CA389619392 | MGAT2 | c.545A>C (p.Gln182Pro) | |
| 14 | g.49621813A>G | CA7172569 | MGAT2 | c.545A>G (p.Gln182Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621813A>T | CA389619393 | MGAT2 | c.545A>T (p.Gln182Leu) | |
| 14 | g.49621814G>A | CA486350190 | MGAT2 | c.546G>A (p.Gln182=) | dbSNP |
| 14 | g.49621814G>C | CA389619394 | MGAT2 | c.546G>C (p.Gln182His) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49621814G= | CA2135804672 | MGAT2 | c.546G= (p.Gln182=) | |
| 14 | g.49621814G>T | CA7172570 | MGAT2 | c.546G>T (p.Gln182His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621815T>A | CA389619395 | MGAT2 | c.547T>A (p.Leu183Met) | |
| 14 | g.49621815T>C | CA486350191 | MGAT2 | c.547T>C (p.Leu183=) | |
| 14 | g.49621815T>G | CA389619396 | MGAT2 | c.547T>G (p.Leu183Val) | |
| 14 | g.49621816T>A | CA389619397 | MGAT2 | c.548T>A (p.Leu183Ter) | |
| 14 | g.49621816T>C | CA389619398 | MGAT2 | c.548T>C (p.Leu183Ser) | gnomAD v4 |
| 14 | g.49621816T>G | CA389619399 | MGAT2 | c.548T>G (p.Leu183Trp) | |
| 14 | g.49621817G>A | CA486350194 | MGAT2 | c.549G>A (p.Leu183=) | |
| 14 | g.49621817G>C | CA389619400 | MGAT2 | c.549G>C (p.Leu183Phe) | |
| 14 | g.49621817G= | CA2135804675 | MGAT2 | c.549G= (p.Leu183=) | |
| 14 | g.49621817G>T | CA389619401 | MGAT2 | c.549G>T (p.Leu183Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621818T>A | CA389619402 | MGAT2 | c.550T>A (p.Tyr184Asn) | |
| 14 | g.49621818T>C | CA389619403 | MGAT2 | c.550T>C (p.Tyr184His) | dbSNP gnomAD v4 |
| 14 | g.49621818T>G | CA389619404 | MGAT2 | c.550T>G (p.Tyr184Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621818T= | CA2135804676 | MGAT2 | c.550T= (p.Tyr184=) | |
| 14 | g.49621819A>C | CA389619405 | MGAT2 | c.551A>C (p.Tyr184Ser) | |
| 14 | g.49621819A>G | CA389619406 | MGAT2 | c.551A>G (p.Tyr184Cys) | |
| 14 | g.49621819A>T | CA389619407 | MGAT2 | c.551A>T (p.Tyr184Phe) | |
| 14 | g.49621820C>A | CA389619408 | MGAT2 | c.552C>A (p.Tyr184Ter) | |
| 14 | g.49621820C>G | CA389619409 | MGAT2 | c.552C>G (p.Tyr184Ter) | |
| 14 | g.49621820C>T | CA486350201 | MGAT2 | c.552C>T (p.Tyr184=) | gnomAD v4 COSMIC |
| 14 | g.49621821C>A | CA389619412 | MGAT2 | c.553C>A (p.Pro185Thr) | |
| 14 | g.49621821C= | CA2135804677 | MGAT2 | c.553C= (p.Pro185=) | |
| 14 | g.49621821C>G | CA389619411 | MGAT2 | c.553C>G (p.Pro185Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49621821C>T | CA389619410 | MGAT2 | c.553C>T (p.Pro185Ser) | |
| 14 | g.49621822C>A | CA389619413 | MGAT2 | c.554C>A (p.Pro185His) | |
| 14 | g.49621822C= | CA2135804678 | MGAT2 | c.554C= (p.Pro185=) | |
| 14 | g.49621822C>G | CA389619414 | MGAT2 | c.554C>G (p.Pro185Arg) | |
| 14 | g.49621822C>T | CA7172571 | MGAT2 | c.554C>T (p.Pro185Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621823T>A | CA486350204 | MGAT2 | c.555T>A (p.Pro185=) | |
| 14 | g.49621823T>C | CA486350205 | MGAT2 | c.555T>C (p.Pro185=) | |
| 14 | g.49621823T>G | CA486350206 | MGAT2 | c.555T>G (p.Pro185=) | |
| 14 | g.49621824A>C | CA389619415 | MGAT2 | c.556A>C (p.Asn186His) | |
| 14 | g.49621824A>G | CA389619416 | MGAT2 | c.556A>G (p.Asn186Asp) | gnomAD v4 |
| 14 | g.49621824A>T | CA389619417 | MGAT2 | c.556A>T (p.Asn186Tyr) | |
| 14 | g.49621825A>C | CA389619418 | MGAT2 | c.557A>C (p.Asn186Thr) | |
| 14 | g.49621825A>G | CA389619419 | MGAT2 | c.557A>G (p.Asn186Ser) | |
| 14 | g.49621825A>T | CA389619420 | MGAT2 | c.557A>T (p.Asn186Ile) | |
| 14 | g.49621826C>A | CA389619421 | MGAT2 | c.558C>A (p.Asn186Lys) | |
| 14 | g.49621826C= | CA2135804679 | MGAT2 | c.558C= (p.Asn186=) | |
| 14 | g.49621826C>G | CA7172572 | MGAT2 | c.558C>G (p.Asn186Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621826C>T | CA486350209 | MGAT2 | c.558C>T (p.Asn186=) | |
| 14 | g.49621827G>A | CA389619422 | MGAT2 | c.559G>A (p.Glu187Lys) | |
| 14 | g.49621827G>C | CA389619423 | MGAT2 | c.559G>C (p.Glu187Gln) | dbSNP gnomAD v4 COSMIC |
| 14 | g.49621827G= | CA2135804683 | MGAT2 | c.559G= (p.Glu187=) | |
| 14 | g.49621827G>T | CA389619424 | MGAT2 | c.559G>T (p.Glu187Ter) | |
| 14 | g.49621828A>C | CA389619426 | MGAT2 | c.560A>C (p.Glu187Ala) | |
| 14 | g.49621828A>G | CA389619427 | MGAT2 | c.560A>G (p.Glu187Gly) | gnomAD v4 |
| 14 | g.49621828A>T | CA389619425 | MGAT2 | c.560A>T (p.Glu187Val) | |
| 14 | g.49621829G>A | CA486350215 | MGAT2 | c.561G>A (p.Glu187=) | gnomAD v4 |
| 14 | g.49621829G>C | CA389619428 | MGAT2 | c.561G>C (p.Glu187Asp) | gnomAD v4 |
| 14 | g.49621829G>T | CA389619429 | MGAT2 | c.561G>T (p.Glu187Asp) | gnomAD v4 COSMIC |
| 14 | g.49621830T>A | CA389619430 | MGAT2 | c.562T>A (p.Phe188Ile) | |
| 14 | g.49621830T>C | CA389619431 | MGAT2 | c.562T>C (p.Phe188Leu) | |
| 14 | g.49621830T>G | CA389619432 | MGAT2 | c.562T>G (p.Phe188Val) | |
| 14 | g.49621831T>A | CA389619433 | MGAT2 | c.563T>A (p.Phe188Tyr) | |
| 14 | g.49621831T>C | CA389619434 | MGAT2 | c.563T>C (p.Phe188Ser) | |
| 14 | g.49621831T>G | CA389619435 | MGAT2 | c.563T>G (p.Phe188Cys) | |
| 14 | g.49621832T>A | CA389619436 | MGAT2 | c.564T>A (p.Phe188Leu) | |
| 14 | g.49621832T>C | CA486350223 | MGAT2 | c.564T>C (p.Phe188=) | |
| 14 | g.49621832T>G | CA389619437 | MGAT2 | c.564T>G (p.Phe188Leu) | |
| 14 | g.49621833C>A | CA389619438 | MGAT2 | c.565C>A (p.Pro189Thr) | gnomAD v4 |
| 14 | g.49621833C>G | CA389619439 | MGAT2 | c.565C>G (p.Pro189Ala) | |
| 14 | g.49621833C>T | CA389619440 | MGAT2 | c.565C>T (p.Pro189Ser) | |
| 14 | g.49621834C>A | CA389619443 | MGAT2 | c.566C>A (p.Pro189Gln) | |
| 14 | g.49621834C>G | CA389619441 | MGAT2 | c.566C>G (p.Pro189Arg) | gnomAD v4 |
| 14 | g.49621834C>T | CA389619442 | MGAT2 | c.566C>T (p.Pro189Leu) | |
| 14 | g.49621835A>C | CA486350228 | MGAT2 | c.567A>C (p.Pro189=) | |
| 14 | g.49621835A>G | CA486350231 | MGAT2 | c.567A>G (p.Pro189=) | gnomAD v4 COSMIC |
| 14 | g.49621835A>T | CA486350233 | MGAT2 | c.567A>T (p.Pro189=) | |
| 14 | g.49621836G>A | CA389619444 | MGAT2 | c.568G>A (p.Gly190Ser) | |
| 14 | g.49621836G>C | CA389619445 | MGAT2 | c.568G>C (p.Gly190Arg) | gnomAD v4 |
| 14 | g.49621836G>T | CA389619446 | MGAT2 | c.568G>T (p.Gly190Cys) | |
| 14 | g.49621837G>A | CA389619447 | MGAT2 | c.569G>A (p.Gly190Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621837G>C | CA389619448 | MGAT2 | c.569G>C (p.Gly190Ala) | |
| 14 | g.49621837G= | CA2135804689 | MGAT2 | c.569G= (p.Gly190=) | |
| 14 | g.49621837G>T | CA389619449 | MGAT2 | c.569G>T (p.Gly190Val) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49621838T>A | CA486350235 | MGAT2 | c.570T>A (p.Gly190=) | |
| 14 | g.49621838T>C | CA486350236 | MGAT2 | c.570T>C (p.Gly190=) | gnomAD v4 |
| 14 | g.49621838T>G | CA486350237 | MGAT2 | c.570T>G (p.Gly190=) | |
| 14 | g.49621839A= | CA2135804695 | MGAT2 | c.571A= (p.Ser191=) | |
| 14 | g.49621839A>C | CA389619450 | MGAT2 | c.571A>C (p.Ser191Arg) | |
| 14 | g.49621839A>G | CA7172573 | MGAT2 | c.571A>G (p.Ser191Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.49621839A>T | CA389619451 | MGAT2 | c.571A>T (p.Ser191Cys) | |
| 14 | g.49621840G>A | CA7172574 | MGAT2 | c.572G>A (p.Ser191Asn) | dbSNP ExAC gnomAD v2 |
| 14 | g.49621840G>C | CA389619452 | MGAT2 | c.572G>C (p.Ser191Thr) | dbSNP |
| 14 | g.49621840G= | CA2135804698 | MGAT2 | c.572G= (p.Ser191=) | |
| 14 | g.49621840G>T | CA389619453 | MGAT2 | c.572G>T (p.Ser191Ile) | |
| 14 | g.49621841T>A | CA389619454 | MGAT2 | c.573T>A (p.Ser191Arg) | |
| 14 | g.49621841T>C | CA486350246 | MGAT2 | c.573T>C (p.Ser191=) | |
| 14 | g.49621841T>G | CA389619455 | MGAT2 | c.573T>G (p.Ser191Arg) | |
| 14 | g.49621842G>A | CA389619456 | MGAT2 | c.574G>A (p.Asp192Asn) | COSMIC |
| 14 | g.49621842G>C | CA389619458 | MGAT2 | c.574G>C (p.Asp192His) | |
| 14 | g.49621842G>T | CA389619457 | MGAT2 | c.574G>T (p.Asp192Tyr) | |
| 14 | g.49621843A>C | CA389619459 | MGAT2 | c.575A>C (p.Asp192Ala) | |
| 14 | g.49621843A>G | CA389619461 | MGAT2 | c.575A>G (p.Asp192Gly) | |
| 14 | g.49621843A>T | CA389619460 | MGAT2 | c.575A>T (p.Asp192Val) | gnomAD v4 |
| 14 | g.49621844C>A | CA389619462 | MGAT2 | c.576C>A (p.Asp192Glu) | |
| 14 | g.49621844C= | CA2135804701 | MGAT2 | c.576C= (p.Asp192=) | |
| 14 | g.49621844C>G | CA389619463 | MGAT2 | c.576C>G (p.Asp192Glu) | |
| 14 | g.49621844C>T | CA7172575 | MGAT2 | c.576C>T (p.Asp192=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621845C>A | CA389619464 | MGAT2 | c.577C>A (p.Pro193Thr) | |
| 14 | g.49621845C= | CA2135804702 | MGAT2 | c.577C= (p.Pro193=) | |
| 14 | g.49621845C>G | CA389619465 | MGAT2 | c.577C>G (p.Pro193Ala) | dbSNP |
| 14 | g.49621845C>T | CA389619466 | MGAT2 | c.577C>T (p.Pro193Ser) | |
| 14 | g.49621846C>A | CA389619467 | MGAT2 | c.578C>A (p.Pro193His) | |
| 14 | g.49621846C= | CA2135804703 | MGAT2 | c.578C= (p.Pro193=) | |
| 14 | g.49621846C>G | CA389619468 | MGAT2 | c.578C>G (p.Pro193Arg) | dbSNP |
| 14 | g.49621846C>T | CA7172576 | MGAT2 | c.578C>T (p.Pro193Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621847T>A | CA486350264 | MGAT2 | c.579T>A (p.Pro193=) | |
| 14 | g.49621847T>C | CA486350260 | MGAT2 | c.579T>C (p.Pro193=) | dbSNP gnomAD v4 |
| 14 | g.49621847T>G | CA486350262 | MGAT2 | c.579T>G (p.Pro193=) | |
| 14 | g.49621847T= | CA2135804704 | MGAT2 | c.579T= (p.Pro193=) | |
| 14 | g.49621848A>C | CA486350265 | MGAT2 | c.580A>C (p.Arg194=) | |
| 14 | g.49621848A>G | CA389619469 | MGAT2 | c.580A>G (p.Arg194Gly) | gnomAD v4 |
| 14 | g.49621848A>T | CA389619470 | MGAT2 | c.580A>T (p.Arg194Ter) | |
| 14 | g.49621849G>A | CA389619473 | MGAT2 | c.581G>A (p.Arg194Lys) | |
| 14 | g.49621849G>C | CA389619471 | MGAT2 | c.581G>C (p.Arg194Thr) | gnomAD v4 COSMIC |
| 14 | g.49621849G>T | CA389619472 | MGAT2 | c.581G>T (p.Arg194Ile) | |
| 14 | g.49621850A= | CA2135804705 | MGAT2 | c.582A= (p.Arg194=) | |
| 14 | g.49621850A>C | CA389619474 | MGAT2 | c.582A>C (p.Arg194Ser) | gnomAD v4 |
| 14 | g.49621850A>G | CA486350273 | MGAT2 | c.582A>G (p.Arg194=) | dbSNP |
| 14 | g.49621850A>T | CA389619475 | MGAT2 | c.582A>T (p.Arg194Ser) | |
| 14 | g.49621851G>A | CA389619476 | MGAT2 | c.583G>A (p.Asp195Asn) | |
| 14 | g.49621851G>C | CA389619477 | MGAT2 | c.583G>C (p.Asp195His) | |
| 14 | g.49621851G>T | CA389619478 | MGAT2 | c.583G>T (p.Asp195Tyr) | gnomAD v4 |
| 14 | g.49621852A>C | CA389619479 | MGAT2 | c.584A>C (p.Asp195Ala) | |
| 14 | g.49621852A>G | CA389619480 | MGAT2 | c.584A>G (p.Asp195Gly) | |
| 14 | g.49621852A>T | CA389619481 | MGAT2 | c.584A>T (p.Asp195Val) | |
| 14 | g.49621853T>A | CA389619482 | MGAT2 | c.585T>A (p.Asp195Glu) | |
| 14 | g.49621853T>C | CA486350274 | MGAT2 | c.585T>C (p.Asp195=) | gnomAD v4 |
| 14 | g.49621853T>G | CA389619483 | MGAT2 | c.585T>G (p.Asp195Glu) | |
| 14 | g.49621853_49621854del | CA912979636 | MGAT2 | c.585_586del (p.Asp195GlufsTer19) | |
| 14 | g.49621854T>A | CA389619485 | MGAT2 | c.586T>A (p.Cys196Ser) | |
| 14 | g.49621854T>C | CA389619486 | MGAT2 | c.586T>C (p.Cys196Arg) | |
| 14 | g.49621854T>G | CA389619484 | MGAT2 | c.586T>G (p.Cys196Gly) | |
| 14 | g.49621855G>A | CA389619487 | MGAT2 | c.587G>A (p.Cys196Tyr) | |
| 14 | g.49621855G>C | CA389619488 | MGAT2 | c.587G>C (p.Cys196Ser) | |
| 14 | g.49621855G>T | CA389619489 | MGAT2 | c.587G>T (p.Cys196Phe) | |
| 14 | g.49621856T>A | CA389619490 | MGAT2 | c.588T>A (p.Cys196Ter) | |
| 14 | g.49621856T>C | CA486350285 | MGAT2 | c.588T>C (p.Cys196=) | |
| 14 | g.49621856T>G | CA389619491 | MGAT2 | c.588T>G (p.Cys196Trp) | |
| 14 | g.49621857C>A | CA389619493 | MGAT2 | c.589C>A (p.Pro197Thr) | |
| 14 | g.49621857C= | CA2135804706 | MGAT2 | c.589C= (p.Pro197=) | |
| 14 | g.49621857C>G | CA7172577 | MGAT2 | c.589C>G (p.Pro197Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621857C>T | CA389619492 | MGAT2 | c.589C>T (p.Pro197Ser) | |
| 14 | g.49621858C>A | CA389619494 | MGAT2 | c.590C>A (p.Pro197His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621858C= | CA2135804707 | MGAT2 | c.590C= (p.Pro197=) | |
| 14 | g.49621858C>G | CA389619495 | MGAT2 | c.590C>G (p.Pro197Arg) | dbSNP gnomAD v4 |
| 14 | g.49621858C>T | CA389619496 | MGAT2 | c.590C>T (p.Pro197Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621859C>A | CA486350288 | MGAT2 | c.591C>A (p.Pro197=) | |
| 14 | g.49621859C= | CA2135804708 | MGAT2 | c.591C= (p.Pro197=) | |
| 14 | g.49621859C>G | CA486350289 | MGAT2 | c.591C>G (p.Pro197=) | |
| 14 | g.49621859C>T | CA486350291 | MGAT2 | c.591C>T (p.Pro197=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.49621860A= | CA2135804710 | MGAT2 | c.592A= (p.Arg198=) | |
| 14 | g.49621860A>C | CA486350295 | MGAT2 | c.592A>C (p.Arg198=) | |
| 14 | g.49621860A>G | CA389619497 | MGAT2 | c.592A>G (p.Arg198Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621860A>T | CA389619498 | MGAT2 | c.592A>T (p.Arg198Ter) | |
| 14 | g.49621863_49621864del | CA2575517489 | MGAT2 | c.595_596del (p.Asp199ProfsTer15) | gnomAD v4 |
| 14 | g.49621861G>A | CA389619499 | MGAT2 | c.593G>A (p.Arg198Lys) | |
| 14 | g.49621861G>C | CA389619501 | MGAT2 | c.593G>C (p.Arg198Thr) | |
| 14 | g.49621861G>T | CA389619500 | MGAT2 | c.593G>T (p.Arg198Ile) | |
| 14 | g.49621862A>C | CA389619502 | MGAT2 | c.594A>C (p.Arg198Ser) | |
| 14 | g.49621862A>G | CA486350298 | MGAT2 | c.594A>G (p.Arg198=) | |
| 14 | g.49621862A>T | CA389619503 | MGAT2 | c.594A>T (p.Arg198Ser) | |
| 14 | g.49621863G>A | CA389619504 | MGAT2 | c.595G>A (p.Asp199Asn) | |
| 14 | g.49621863G>C | CA389619505 | MGAT2 | c.595G>C (p.Asp199His) | |
| 14 | g.49621863G>T | CA389619506 | MGAT2 | c.595G>T (p.Asp199Tyr) | gnomAD v4 |
| 14 | g.49621864A= | CA2135804713 | MGAT2 | c.596A= (p.Asp199=) | |
| 14 | g.49621864A>C | CA389619507 | MGAT2 | c.596A>C (p.Asp199Ala) | dbSNP |
| 14 | g.49621864A>G | CA389619508 | MGAT2 | c.596A>G (p.Asp199Gly) | gnomAD v4 |
| 14 | g.49621864A>T | CA389619509 | MGAT2 | c.596A>T (p.Asp199Val) | |
| 14 | g.49621865C>A | CA7172578 | MGAT2 | c.597C>A (p.Asp199Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621865C= | CA2135804715 | MGAT2 | c.597C= (p.Asp199=) | |
| 14 | g.49621865C>G | CA389619510 | MGAT2 | c.597C>G (p.Asp199Glu) | |
| 14 | g.49621865C>T | CA486350304 | MGAT2 | c.597C>T (p.Asp199=) | dbSNP |
| 14 | g.49621866C>A | CA389619511 | MGAT2 | c.598C>A (p.Leu200Met) | |
| 14 | g.49621866C= | CA2135804717 | MGAT2 | c.598C= (p.Leu200=) | |
| 14 | g.49621866C>G | CA389619512 | MGAT2 | c.598C>G (p.Leu200Val) | |
| 14 | g.49621866C>T | CA486350308 | MGAT2 | c.598C>T (p.Leu200=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621867T>A | CA389619515 | MGAT2 | c.599T>A (p.Leu200Gln) | |
| 14 | g.49621867T>C | CA389619514 | MGAT2 | c.599T>C (p.Leu200Pro) | gnomAD v4 |
| 14 | g.49621867T>G | CA389619513 | MGAT2 | c.599T>G (p.Leu200Arg) | |
| 14 | g.49621868G>A | CA7172579 | MGAT2 | c.600G>A (p.Leu200=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621868G>C | CA486350311 | MGAT2 | c.600G>C (p.Leu200=) | |
| 14 | g.49621868G= | CA2135804719 | MGAT2 | c.600G= (p.Leu200=) | |
| 14 | g.49621868G>T | CA486350313 | MGAT2 | c.600G>T (p.Leu200=) | |
| 14 | g.49621869C>A | CA389619516 | MGAT2 | c.601C>A (p.Pro201Thr) | |
| 14 | g.49621869C>G | CA389619518 | MGAT2 | c.601C>G (p.Pro201Ala) | |
| 14 | g.49621869C>T | CA389619517 | MGAT2 | c.601C>T (p.Pro201Ser) | |
| 14 | g.49621870C>A | CA389619519 | MGAT2 | c.602C>A (p.Pro201Gln) | |
| 14 | g.49621870C= | CA2135804721 | MGAT2 | c.602C= (p.Pro201=) | |
| 14 | g.49621870C>G | CA389619520 | MGAT2 | c.602C>G (p.Pro201Arg) | gnomAD v4 |
| 14 | g.49621870C>T | CA7172580 | MGAT2 | c.602C>T (p.Pro201Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621871G>A | CA486350317 | MGAT2 | c.603G>A (p.Pro201=) | gnomAD v4 |
| 14 | g.49621871G>C | CA486350319 | MGAT2 | c.603G>C (p.Pro201=) | |
| 14 | g.49621871G>T | CA486350320 | MGAT2 | c.603G>T (p.Pro201=) | |
| 14 | g.49621872A= | CA2135804722 | MGAT2 | c.604A= (p.Lys202=) | |
| 14 | g.49621872A>C | CA389619521 | MGAT2 | c.604A>C (p.Lys202Gln) | |
| 14 | g.49621872A>G | CA7172581 | MGAT2 | c.604A>G (p.Lys202Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621872A>T | CA389619522 | MGAT2 | c.604A>T (p.Lys202Ter) | |
| 14 | g.49621873A>C | CA389619523 | MGAT2 | c.605A>C (p.Lys202Thr) | |
| 14 | g.49621873A>G | CA389619524 | MGAT2 | c.605A>G (p.Lys202Arg) | |
| 14 | g.49621873A>T | CA389619525 | MGAT2 | c.605A>T (p.Lys202Met) | |
| 14 | g.49621874G>A | CA486350325 | MGAT2 | c.606G>A (p.Lys202=) | gnomAD v4 |
| 14 | g.49621874G>C | CA389619526 | MGAT2 | c.606G>C (p.Lys202Asn) | |
| 14 | g.49621874G>T | CA389619527 | MGAT2 | c.606G>T (p.Lys202Asn) | gnomAD v4 |
| 14 | g.49621875A>C | CA389619530 | MGAT2 | c.607A>C (p.Asn203His) | |
| 14 | g.49621875A>G | CA389619529 | MGAT2 | c.607A>G (p.Asn203Asp) | |
| 14 | g.49621875A>T | CA389619528 | MGAT2 | c.607A>T (p.Asn203Tyr) | |
| 14 | g.49621876A>C | CA389619531 | MGAT2 | c.608A>C (p.Asn203Thr) | |
| 14 | g.49621876A>G | CA389619532 | MGAT2 | c.608A>G (p.Asn203Ser) | |
| 14 | g.49621876A>T | CA389619533 | MGAT2 | c.608A>T (p.Asn203Ile) | |
| 14 | g.49621877T>A | CA389619535 | MGAT2 | c.609T>A (p.Asn203Lys) | |
| 14 | g.49621877T>C | CA7172582 | MGAT2 | c.609T>C (p.Asn203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.49621877T>G | CA389619537 | MGAT2 | c.609T>G (p.Asn203Lys) | |
| 14 | g.49621877T= | CA2135804723 | MGAT2 | c.609T= (p.Asn203=) | |
| 14 | g.49621878G>A | CA389619539 | MGAT2 | c.610G>A (p.Ala204Thr) | |
| 14 | g.49621878G>C | CA389619540 | MGAT2 | c.610G>C (p.Ala204Pro) | |
| 14 | g.49621878G>T | CA389619542 | MGAT2 | c.610G>T (p.Ala204Ser) | |
| 14 | g.49621879C>A | CA389619543 | MGAT2 | c.611C>A (p.Ala204Asp) | |
| 14 | g.49621879C= | CA2135804724 | MGAT2 | c.611C= (p.Ala204=) | |
| 14 | g.49621879C>G | CA389619545 | MGAT2 | c.611C>G (p.Ala204Gly) | gnomAD v4 |
| 14 | g.49621879C>T | CA389619547 | MGAT2 | c.611C>T (p.Ala204Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.49621880C>A | CA486350331 | MGAT2 | c.612C>A (p.Ala204=) | COSMIC |
| 14 | g.49621880C= | CA2135804725 | MGAT2 | c.612C= (p.Ala204=) | |
| 14 | g.49621880C>G | CA486350332 | MGAT2 | c.612C>G (p.Ala204=) | |
| 14 | g.49621880C>T | CA260660733 | MGAT2 | c.612C>T (p.Ala204=) | dbSNP gnomAD v4 |
| 14 | g.49621881G>A | CA389619552 | MGAT2 | c.613G>A (p.Ala205Thr) | gnomAD v4 |
| 14 | g.49621881G>C | CA389619550 | MGAT2 | c.613G>C (p.Ala205Pro) | gnomAD v4 |
| 14 | g.49621881G>T | CA389619548 | MGAT2 | c.613G>T (p.Ala205Ser) | |
| 14 | g.49621882C>A | CA389619554 | MGAT2 | c.614C>A (p.Ala205Asp) | |
| 14 | g.49621882C>G | CA389619556 | MGAT2 | c.614C>G (p.Ala205Gly) | |
| 14 | g.49621882C>T | CA389619557 | MGAT2 | c.614C>T (p.Ala205Val) | |
| 14 | g.49621883T>A | CA486350336 | MGAT2 | c.615T>A (p.Ala205=) | |
| 14 | g.49621883T>C | CA486350338 | MGAT2 | c.615T>C (p.Ala205=) | gnomAD v4 |
| 14 | g.49621883T>G | CA486350339 | MGAT2 | c.615T>G (p.Ala205=) | |
| 14 | g.49621884T>A | CA389619559 | MGAT2 | c.616T>A (p.Leu206Met) | |
| 14 | g.49621884T>C | CA486350340 | MGAT2 | c.616T>C (p.Leu206=) | dbSNP |
| 14 | g.49621884T>G | CA260660736 | MGAT2 | c.616T>G (p.Leu206Val) | dbSNP gnomAD v4 |
| 14 | g.49621884T= | CA2135804726 | MGAT2 | c.616T= (p.Leu206=) | |
| 14 | g.49621885T>A | CA389619561 | MGAT2 | c.617T>A (p.Leu206Ter) | |
| 14 | g.49621885T>C | CA389619562 | MGAT2 | c.617T>C (p.Leu206Ser) | |
| 14 | g.49621885T>G | CA389619564 | MGAT2 | c.617T>G (p.Leu206Trp) | |
| 14 | g.49621886G>A | CA486350344 | MGAT2 | c.618G>A (p.Leu206=) | COSMIC |
| 14 | g.49621886G>C | CA389619565 | MGAT2 | c.618G>C (p.Leu206Phe) | |
| 14 | g.49621886G>T | CA389619567 | MGAT2 | c.618G>T (p.Leu206Phe) | |
| 14 | g.49621887A>C | CA389619568 | MGAT2 | c.619A>C (p.Lys207Gln) | |
| 14 | g.49621887A>G | CA389619569 | MGAT2 | c.619A>G (p.Lys207Glu) | |
| 14 | g.49621887A>T | CA389619570 | MGAT2 | c.619A>T (p.Lys207Ter) | |
| 14 | g.49621888A>C | CA389619574 | MGAT2 | c.620A>C (p.Lys207Thr) | |
| 14 | g.49621888A>G | CA389619571 | MGAT2 | c.620A>G (p.Lys207Arg) | |
| 14 | g.49621888A>T | CA389619572 | MGAT2 | c.620A>T (p.Lys207Ile) | |
| 14 | g.49621889A= | CA2135804727 | MGAT2 | c.621A= (p.Lys207=) | |
| 14 | g.49621889A>C | CA389619575 | MGAT2 | c.621A>C (p.Lys207Asn) | |
| 14 | g.49621889A>G | CA486350345 | MGAT2 | c.621A>G (p.Lys207=) | dbSNP |
| 14 | g.49621889A>T | CA389619577 | MGAT2 | c.621A>T (p.Lys207Asn) | |
| 14 | g.49621890T>A | CA389619578 | MGAT2 | c.622T>A (p.Leu208Met) | |
| 14 | g.49621890T>C | CA7172583 | MGAT2 | c.622T>C (p.Leu208=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.49621890T>G | CA389619581 | MGAT2 | c.622T>G (p.Leu208Val) | |
| 14 | g.49621890T= | CA2135804728 | MGAT2 | c.622T= (p.Leu208=) | |
| 14 | g.49621891T>A | CA389619582 | MGAT2 | c.623T>A (p.Leu208Ter) | |
| 14 | g.49621891T>C | CA389619584 | MGAT2 | c.623T>C (p.Leu208Ser) | |
| 14 | g.49621891T>G | CA389619585 | MGAT2 | c.623T>G (p.Leu208Trp) | |
| 14 | g.49621891_49621893delinsTGG | CA2135804729 | MGAT2 | c.623_625delinsTGG (p.Leu208=) | |
| 14 | g.49621892G>A | CA486350348 | MGAT2 | c.624G>A (p.Leu208=) | |
| 14 | g.49621892G>C | CA389619586 | MGAT2 | c.624G>C (p.Leu208Phe) | |
| 14 | g.49621892G>T | CA389619588 | MGAT2 | c.624G>T (p.Leu208Phe) | |
| 14 | g.49621894_49621895del | CA706480752 | MGAT2 | c.626_627del (p.Gly209ValfsTer5) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.49621893G>A | CA389619589 | MGAT2 | c.625G>A (p.Gly209Arg) | gnomAD v4 |
| 14 | g.49621893G>C | CA389619591 | MGAT2 | c.625G>C (p.Gly209Arg) | |
| 14 | g.49621893G= | CA2135804730 | MGAT2 | c.625G= (p.Gly209=) | |
| 14 | g.49621893G>T | CA389619593 | MGAT2 | c.625G>T (p.Gly209Trp) | dbSNP gnomAD v2 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) |