| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.69419784C>A | CA359923318 | MARVELD2 | c.399C>A (p.Cys133Ter) | |
| 5 | g.69419784C= | CA1553916189 | MARVELD2 | c.399C= (p.Cys133=) | |
| 5 | g.69419784C>G | CA359923319 | MARVELD2 | c.399C>G (p.Cys133Trp) | gnomAD v4 |
| 5 | g.69419784C>T | CA445083491 | MARVELD2 | c.399C>T (p.Cys133=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419785A= | CA1553916193 | MARVELD2 | c.400A= (p.Lys134=) | |
| 5 | g.69419785A>C | CA359923322 | MARVELD2 | c.400A>C (p.Lys134Gln) | |
| 5 | g.69419785A>G | CA3294036 | MARVELD2 | c.400A>G (p.Lys134Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419785A>T | CA359923325 | MARVELD2 | c.400A>T (p.Lys134Ter) | |
| 5 | g.69419786A>C | CA359923327 | MARVELD2 | c.401A>C (p.Lys134Thr) | |
| 5 | g.69419786A>G | CA359923329 | MARVELD2 | c.401A>G (p.Lys134Arg) | |
| 5 | g.69419786A>T | CA359923330 | MARVELD2 | c.401A>T (p.Lys134Ile) | |
| 5 | g.69419787A>C | CA359923334 | MARVELD2 | c.402A>C (p.Lys134Asn) | |
| 5 | g.69419787A>G | CA445083502 | MARVELD2 | c.402A>G (p.Lys134=) | |
| 5 | g.69419787A>T | CA359923332 | MARVELD2 | c.402A>T (p.Lys134Asn) | |
| 5 | g.69419788G>A | CA359923336 | MARVELD2 | c.403G>A (p.Asp135Asn) | |
| 5 | g.69419788G>C | CA359923338 | MARVELD2 | c.403G>C (p.Asp135His) | gnomAD v4 |
| 5 | g.69419788G>T | CA359923340 | MARVELD2 | c.403G>T (p.Asp135Tyr) | |
| 5 | g.69419789A>C | CA359923342 | MARVELD2 | c.404A>C (p.Asp135Ala) | |
| 5 | g.69419789A>G | CA359923344 | MARVELD2 | c.404A>G (p.Asp135Gly) | |
| 5 | g.69419789A>T | CA359923346 | MARVELD2 | c.404A>T (p.Asp135Val) | |
| 5 | g.69419790T>A | CA359923349 | MARVELD2 | c.405T>A (p.Asp135Glu) | |
| 5 | g.69419790T>C | CA445083514 | MARVELD2 | c.405T>C (p.Asp135=) | |
| 5 | g.69419790T>G | CA359923347 | MARVELD2 | c.405T>G (p.Asp135Glu) | |
| 5 | g.69419790_69419791delinsTC | CA1553916196 | MARVELD2 | c.405_406delinsTC (p.Asp135=) | |
| 5 | g.69419791C>A | CA359923351 | MARVELD2 | c.406C>A (p.Pro136Thr) | |
| 5 | g.69419791C>G | CA359923353 | MARVELD2 | c.406C>G (p.Pro136Ala) | |
| 5 | g.69419791C>T | CA359923355 | MARVELD2 | c.406C>T (p.Pro136Ser) | gnomAD v4 COSMIC |
| 5 | g.69419793del | CA119991407 | MARVELD2 | c.408del (p.Tyr137ThrfsTer26) c.408del (p.Tyr137ThrfsTer?) | dbSNP |
| 5 | g.69419792C>A | CA359923357 | MARVELD2 | c.407C>A (p.Pro136His) | |
| 5 | g.69419792C>G | CA359923358 | MARVELD2 | c.407C>G (p.Pro136Arg) | |
| 5 | g.69419792C>T | CA359923360 | MARVELD2 | c.407C>T (p.Pro136Leu) | gnomAD v4 COSMIC |
| 5 | g.69419793C>A | CA445083526 | MARVELD2 | c.408C>A (p.Pro136=) | COSMIC |
| 5 | g.69419793C= | CA1553916201 | MARVELD2 | c.408C= (p.Pro136=) | |
| 5 | g.69419793C>G | CA445083529 | MARVELD2 | c.408C>G (p.Pro136=) | gnomAD v4 |
| 5 | g.69419793C>T | CA445083530 | MARVELD2 | c.408C>T (p.Pro136=) | dbSNP gnomAD v4 |
| 5 | g.69419794T>A | CA359923365 | MARVELD2 | c.409T>A (p.Tyr137Asn) | |
| 5 | g.69419794T>C | CA359923362 | MARVELD2 | c.409T>C (p.Tyr137His) | |
| 5 | g.69419794T>G | CA359923364 | MARVELD2 | c.409T>G (p.Tyr137Asp) | |
| 5 | g.69419795A= | CA1553916204 | MARVELD2 | c.410A= (p.Tyr137=) | |
| 5 | g.69419795A>C | CA359923368 | MARVELD2 | c.410A>C (p.Tyr137Ser) | |
| 5 | g.69419795A>G | CA359923369 | MARVELD2 | c.410A>G (p.Tyr137Cys) | dbSNP gnomAD v4 |
| 5 | g.69419795A>T | CA359923371 | MARVELD2 | c.410A>T (p.Tyr137Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419796C>A | CA359923373 | MARVELD2 | c.411C>A (p.Tyr137Ter) | |
| 5 | g.69419796C= | CA1553916206 | MARVELD2 | c.411C= (p.Tyr137=) | |
| 5 | g.69419796C>G | CA359923375 | MARVELD2 | c.411C>G (p.Tyr137Ter) | dbSNP |
| 5 | g.69419796C>T | CA3294037 | MARVELD2 | c.411C>T (p.Tyr137=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419797G>A | CA3294038 | MARVELD2 | c.412G>A (p.Gly138Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419797G>C | CA359923378 | MARVELD2 | c.412G>C (p.Gly138Arg) | |
| 5 | g.69419797G= | CA1553916209 | MARVELD2 | c.412G= (p.Gly138=) | |
| 5 | g.69419797G>T | CA359923380 | MARVELD2 | c.412G>T (p.Gly138Ter) | |
| 5 | g.69419798G>A | CA359923382 | MARVELD2 | c.413G>A (p.Gly138Glu) | COSMIC |
| 5 | g.69419798G>C | CA359923383 | MARVELD2 | c.413G>C (p.Gly138Ala) | |
| 5 | g.69419798G>T | CA359923385 | MARVELD2 | c.413G>T (p.Gly138Val) | |
| 5 | g.69419799A= | CA1553916213 | MARVELD2 | c.414A= (p.Gly138=) | |
| 5 | g.69419799A>C | CA3294039 | MARVELD2 | c.414A>C (p.Gly138=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.69419799A>G | CA445083544 | MARVELD2 | c.414A>G (p.Gly138=) | gnomAD v4 |
| 5 | g.69419799A>T | CA445083550 | MARVELD2 | c.414A>T (p.Gly138=) | |
| 5 | g.69419800G>A | CA359923388 | MARVELD2 | c.415G>A (p.Gly139Arg) | gnomAD v4 |
| 5 | g.69419800G>C | CA359923392 | MARVELD2 | c.415G>C (p.Gly139Arg) | |
| 5 | g.69419800G>T | CA359923390 | MARVELD2 | c.415G>T (p.Gly139Trp) | |
| 5 | g.69419801G>A | CA3294040 | MARVELD2 | c.416G>A (p.Gly139Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419801G>C | CA359923397 | MARVELD2 | c.416G>C (p.Gly139Ala) | |
| 5 | g.69419801G= | CA1553916217 | MARVELD2 | c.416G= (p.Gly139=) | |
| 5 | g.69419801G>T | CA359923395 | MARVELD2 | c.416G>T (p.Gly139Val) | |
| 5 | g.69419802G>A | CA445083560 | MARVELD2 | c.417G>A (p.Gly139=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419802G>C | CA445083562 | MARVELD2 | c.417G>C (p.Gly139=) | |
| 5 | g.69419802G= | CA1553916219 | MARVELD2 | c.417G= (p.Gly139=) | |
| 5 | g.69419802G>T | CA445083564 | MARVELD2 | c.417G>T (p.Gly139=) | |
| 5 | g.69419803T>A | CA359923399 | MARVELD2 | c.418T>A (p.Ser140Thr) | |
| 5 | g.69419803T>C | CA359923401 | MARVELD2 | c.418T>C (p.Ser140Pro) | |
| 5 | g.69419803T>G | CA359923403 | MARVELD2 | c.418T>G (p.Ser140Ala) | |
| 5 | g.69419804C>A | CA359923405 | MARVELD2 | c.419C>A (p.Ser140Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419804C= | CA1553916221 | MARVELD2 | c.419C= (p.Ser140=) | |
| 5 | g.69419804C>G | CA359923407 | MARVELD2 | c.419C>G (p.Ser140Ter) | |
| 5 | g.69419804C>T | CA359923408 | MARVELD2 | c.419C>T (p.Ser140Leu) | |
| 5 | g.69419805A>C | CA445083568 | MARVELD2 | c.420A>C (p.Ser140=) | |
| 5 | g.69419805A>G | CA445083569 | MARVELD2 | c.420A>G (p.Ser140=) | gnomAD v4 |
| 5 | g.69419805A>T | CA445083570 | MARVELD2 | c.420A>T (p.Ser140=) | |
| 5 | g.69419805dup | CA1553916223 | MARVELD2 | c.420dup (p.Glu141ArgfsTer5) | dbSNP |
| 5 | g.69419806G>A | CA359923410 | MARVELD2 | c.421G>A (p.Glu141Lys) | |
| 5 | g.69419806G>C | CA359923412 | MARVELD2 | c.421G>C (p.Glu141Gln) | |
| 5 | g.69419806G>T | CA359923414 | MARVELD2 | c.421G>T (p.Glu141Ter) | |
| 5 | g.69419807A>C | CA359923416 | MARVELD2 | c.422A>C (p.Glu141Ala) | |
| 5 | g.69419807A>G | CA359923418 | MARVELD2 | c.422A>G (p.Glu141Gly) | |
| 5 | g.69419807A>T | CA359923420 | MARVELD2 | c.422A>T (p.Glu141Val) | |
| 5 | g.69419808A>C | CA359923423 | MARVELD2 | c.423A>C (p.Glu141Asp) | |
| 5 | g.69419808A>G | CA445083581 | MARVELD2 | c.423A>G (p.Glu141=) | |
| 5 | g.69419808A>T | CA359923421 | MARVELD2 | c.423A>T (p.Glu141Asp) | |
| 5 | g.69419809G>A | CA359923425 | MARVELD2 | c.424G>A (p.Gly142Arg) | gnomAD v4 |
| 5 | g.69419809G>C | CA359923426 | MARVELD2 | c.424G>C (p.Gly142Arg) | |
| 5 | g.69419809G>T | CA359923428 | MARVELD2 | c.424G>T (p.Gly142Ter) | |
| 5 | g.69419810G>A | CA359923431 | MARVELD2 | c.425G>A (p.Gly142Glu) | |
| 5 | g.69419810G>C | CA359923432 | MARVELD2 | c.425G>C (p.Gly142Ala) | |
| 5 | g.69419810G>T | CA359923434 | MARVELD2 | c.425G>T (p.Gly142Val) | |
| 5 | g.69419811A>C | CA445083588 | MARVELD2 | c.426A>C (p.Gly142=) | |
| 5 | g.69419811A>G | CA445083589 | MARVELD2 | c.426A>G (p.Gly142=) | |
| 5 | g.69419811A>T | CA445083590 | MARVELD2 | c.426A>T (p.Gly142=) | |
| 5 | g.69419812A>C | CA359923436 | MARVELD2 | c.427A>C (p.Thr143Pro) | |
| 5 | g.69419812A>G | CA359923437 | MARVELD2 | c.427A>G (p.Thr143Ala) | gnomAD v4 |
| 5 | g.69419812A>T | CA359923438 | MARVELD2 | c.427A>T (p.Thr143Ser) | |
| 5 | g.69419813C>A | CA359923440 | MARVELD2 | c.428C>A (p.Thr143Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419813C= | CA1553916226 | MARVELD2 | c.428C= (p.Thr143=) | |
| 5 | g.69419813C>G | CA3294042 | MARVELD2 | c.428C>G (p.Thr143Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419813C>T | CA3294041 | MARVELD2 | c.428C>T (p.Thr143Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419814C>A | CA445083602 | MARVELD2 | c.429C>A (p.Thr143=) | |
| 5 | g.69419814C>G | CA445083604 | MARVELD2 | c.429C>G (p.Thr143=) | |
| 5 | g.69419814C>T | CA445083605 | MARVELD2 | c.429C>T (p.Thr143=) | gnomAD v4 |
| 5 | g.69419814_69419815delinsCT | CA1553916230 | MARVELD2 | c.429_430delinsCT (p.Thr143=) | |
| 5 | g.69419815T>A | CA359923447 | MARVELD2 | c.430T>A (p.Phe144Ile) | |
| 5 | g.69419815T>C | CA359923445 | MARVELD2 | c.430T>C (p.Phe144Leu) | dbSNP |
| 5 | g.69419815T>G | CA3294043 | MARVELD2 | c.430T>G (p.Phe144Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419815T= | CA1553916235 | MARVELD2 | c.430T= (p.Phe144=) | |
| 5 | g.69419817del | CA813532705 | MARVELD2 | c.432del (p.Phe144LeufsTer19) c.432del (p.Phe144LeufsTer?) | dbSNP gnomAD v4 |
| 5 | g.69419816T>A | CA359923450 | MARVELD2 | c.431T>A (p.Phe144Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419816T>C | CA359923451 | MARVELD2 | c.431T>C (p.Phe144Ser) | |
| 5 | g.69419816T>G | CA359923453 | MARVELD2 | c.431T>G (p.Phe144Cys) | |
| 5 | g.69419816T= | CA1553916238 | MARVELD2 | c.431T= (p.Phe144=) | |
| 5 | g.69419817T>A | CA359923455 | MARVELD2 | c.432T>A (p.Phe144Leu) | |
| 5 | g.69419817T>C | CA445083616 | MARVELD2 | c.432T>C (p.Phe144=) | |
| 5 | g.69419817T>G | CA359923457 | MARVELD2 | c.432T>G (p.Phe144Leu) | |
| 5 | g.69419818A>C | CA359923459 | MARVELD2 | c.433A>C (p.Ser145Arg) | |
| 5 | g.69419818A>G | CA359923460 | MARVELD2 | c.433A>G (p.Ser145Gly) | |
| 5 | g.69419818A>T | CA359923461 | MARVELD2 | c.433A>T (p.Ser145Cys) | |
| 5 | g.69419819G>A | CA359923463 | MARVELD2 | c.434G>A (p.Ser145Asn) | |
| 5 | g.69419819G>C | CA359923464 | MARVELD2 | c.434G>C (p.Ser145Thr) | |
| 5 | g.69419819G>T | CA359923466 | MARVELD2 | c.434G>T (p.Ser145Ile) | ClinVar gnomAD v4 COSMIC |
| 5 | g.69419820T>A | CA359923468 | MARVELD2 | c.435T>A (p.Ser145Arg) | |
| 5 | g.69419820T>C | CA445083628 | MARVELD2 | c.435T>C (p.Ser145=) | |
| 5 | g.69419820T>G | CA359923470 | MARVELD2 | c.435T>G (p.Ser145Arg) | |
| 5 | g.69419821T>A | CA359923475 | MARVELD2 | c.436T>A (p.Ser146Thr) c.436T>A | |
| 5 | g.69419821T>C | CA359923472 | MARVELD2 | c.436T>C (p.Ser146Pro) c.436T>C | |
| 5 | g.69419821T>G | CA3294044 | MARVELD2 | c.436T>G (p.Ser146Ala) c.436T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419821T= | CA1553916241 | MARVELD2 | c.436T= (p.Ser146=) c.436T= | |
| 5 | g.69419822C>A | CA359923476 | MARVELD2 | c.437C>A (p.Ser146Tyr) | |
| 5 | g.69419822C= | CA1553916244 | MARVELD2 | c.437C= (p.Ser146=) | |
| 5 | g.69419822C>G | CA359923477 | MARVELD2 | c.437C>G (p.Ser146Cys) | |
| 5 | g.69419822C>T | CA3294045 | MARVELD2 | c.437C>T (p.Ser146Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419823C>A | CA445083650 | MARVELD2 | c.438C>A (p.Ser146=) | |
| 5 | g.69419823C= | CA1553916248 | MARVELD2 | c.438C= (p.Ser146=) | |
| 5 | g.69419823C>G | CA445083652 | MARVELD2 | c.438C>G (p.Ser146=) | |
| 5 | g.69419823C>T | CA445083651 | MARVELD2 | c.438C>T (p.Ser146=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419824C>A | CA445083653 | MARVELD2 | c.439C>A (p.Arg147=) | |
| 5 | g.69419824C= | CA1553916251 | MARVELD2 | c.439C= (p.Arg147=) | |
| 5 | g.69419824C>G | CA359923479 | MARVELD2 | c.439C>G (p.Arg147Gly) | |
| 5 | g.69419824C>T | CA3294046 | MARVELD2 | c.439C>T (p.Arg147Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419825G>A | CA3294047 | MARVELD2 | c.440G>A (p.Arg147Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69419825G>C | CA359923482 | MARVELD2 | c.440G>C (p.Arg147Pro) | |
| 5 | g.69419825G= | CA1553916257 | MARVELD2 | c.440G= (p.Arg147=) | |
| 5 | g.69419825G>T | CA359923484 | MARVELD2 | c.440G>T (p.Arg147Leu) | |
| 5 | g.69419826G>A | CA445083655 | MARVELD2 | c.441G>A (p.Arg147=) | |
| 5 | g.69419826G>C | CA445083656 | MARVELD2 | c.441G>C (p.Arg147=) | |
| 5 | g.69419826G>T | CA445083657 | MARVELD2 | c.441G>T (p.Arg147=) | |
| 5 | g.69419827A= | CA1553916261 | MARVELD2 | c.442A= (p.Lys148=) | |
| 5 | g.69419827A>C | CA359923486 | MARVELD2 | c.442A>C (p.Lys148Gln) | |
| 5 | g.69419827A>G | CA359923487 | MARVELD2 | c.442A>G (p.Lys148Glu) | dbSNP |
| 5 | g.69419827A>T | CA359923488 | MARVELD2 | c.442A>T (p.Lys148Ter) | |
| 5 | g.69419828A= | CA1553916263 | MARVELD2 | c.443A= (p.Lys148=) | |
| 5 | g.69419828A>C | CA359923491 | MARVELD2 | c.443A>C (p.Lys148Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419828A>G | CA359923495 | MARVELD2 | c.443A>G (p.Lys148Arg) | |
| 5 | g.69419828A>T | CA359923493 | MARVELD2 | c.443A>T (p.Lys148Ile) | |
| 5 | g.69419829A>C | CA359923497 | MARVELD2 | c.444A>C (p.Lys148Asn) | |
| 5 | g.69419829A>G | CA445083661 | MARVELD2 | c.444A>G (p.Lys148=) | |
| 5 | g.69419829A>T | CA359923499 | MARVELD2 | c.444A>T (p.Lys148Asn) | |
| 5 | g.69419830G>A | CA359923500 | MARVELD2 | c.445G>A (p.Glu149Lys) | |
| 5 | g.69419830G>C | CA359923505 | MARVELD2 | c.445G>C (p.Glu149Gln) | |
| 5 | g.69419830G= | CA1553916266 | MARVELD2 | c.445G= (p.Glu149=) | |
| 5 | g.69419830G>T | CA359923502 | MARVELD2 | c.445G>T (p.Glu149Ter) | dbSNP |
| 5 | g.69419831A>C | CA359923507 | MARVELD2 | c.446A>C (p.Glu149Ala) | |
| 5 | g.69419831A>G | CA359923509 | MARVELD2 | c.446A>G (p.Glu149Gly) | |
| 5 | g.69419831A>T | CA359923510 | MARVELD2 | c.446A>T (p.Glu149Val) | gnomAD v4 |
| 5 | g.69419832G>A | CA445083670 | MARVELD2 | c.447G>A (p.Glu149=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419832G>C | CA359923513 | MARVELD2 | c.447G>C (p.Glu149Asp) | |
| 5 | g.69419832G= | CA1553916269 | MARVELD2 | c.447G= (p.Glu149=) | |
| 5 | g.69419832G>T | CA359923515 | MARVELD2 | c.447G>T (p.Glu149Asp) | |
| 5 | g.69419833G>A | CA359923516 | MARVELD2 | c.448G>A (p.Ala150Thr) | |
| 5 | g.69419833G>C | CA359923518 | MARVELD2 | c.448G>C (p.Ala150Pro) | |
| 5 | g.69419833G= | CA1553916272 | MARVELD2 | c.448G= (p.Ala150=) | |
| 5 | g.69419833G>T | CA3294048 | MARVELD2 | c.448G>T (p.Ala150Ser) | dbSNP ExAC gnomAD v2 |
| 5 | g.69419834C>A | CA359923521 | MARVELD2 | c.449C>A (p.Ala150Asp) | COSMIC |
| 5 | g.69419834C>G | CA359923523 | MARVELD2 | c.449C>G (p.Ala150Gly) | |
| 5 | g.69419834C>T | CA359923525 | MARVELD2 | c.449C>T (p.Ala150Val) | |
| 5 | g.69419835T>A | CA445083678 | MARVELD2 | c.450T>A (p.Ala150=) | |
| 5 | g.69419835T>C | CA445083679 | MARVELD2 | c.450T>C (p.Ala150=) | |
| 5 | g.69419835T>G | CA445083680 | MARVELD2 | c.450T>G (p.Ala150=) | |
| 5 | g.69419836G>A | CA359923527 | MARVELD2 | c.451G>A (p.Asp151Asn) | |
| 5 | g.69419836G>C | CA359923531 | MARVELD2 | c.451G>C (p.Asp151His) | |
| 5 | g.69419836G>T | CA359923529 | MARVELD2 | c.451G>T (p.Asp151Tyr) | |
| 5 | g.69419837A= | CA1553916276 | MARVELD2 | c.452A= (p.Asp151=) | |
| 5 | g.69419837A>C | CA359923533 | MARVELD2 | c.452A>C (p.Asp151Ala) | |
| 5 | g.69419837A>G | CA359923535 | MARVELD2 | c.452A>G (p.Asp151Gly) | gnomAD v4 |
| 5 | g.69419837A>T | CA359923537 | MARVELD2 | c.452A>T (p.Asp151Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419838C>A | CA359923539 | MARVELD2 | c.453C>A (p.Asp151Glu) | gnomAD v4 |
| 5 | g.69419838C= | CA1553916280 | MARVELD2 | c.453C= (p.Asp151=) | |
| 5 | g.69419838C>G | CA359923541 | MARVELD2 | c.453C>G (p.Asp151Glu) | |
| 5 | g.69419838C>T | CA3294049 | MARVELD2 | c.453C>T (p.Asp151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419839G>A | CA3294050 | MARVELD2 | c.454G>A (p.Ala152Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419839G>C | CA359923544 | MARVELD2 | c.454G>C (p.Ala152Pro) | gnomAD v4 |
| 5 | g.69419839G= | CA1553916284 | MARVELD2 | c.454G= (p.Ala152=) | |
| 5 | g.69419839G>T | CA359923545 | MARVELD2 | c.454G>T (p.Ala152Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419840C>A | CA359923548 | MARVELD2 | c.455C>A (p.Ala152Glu) | |
| 5 | g.69419840C= | CA1553916290 | MARVELD2 | c.455C= (p.Ala152=) | |
| 5 | g.69419840C>G | CA359923549 | MARVELD2 | c.455C>G (p.Ala152Gly) | |
| 5 | g.69419840C>T | CA3294051 | MARVELD2 | c.455C>T (p.Ala152Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419841A= | CA1553916292 | MARVELD2 | c.456A= (p.Ala152=) | |
| 5 | g.69419841A>C | CA445083703 | MARVELD2 | c.456A>C (p.Ala152=) | dbSNP |
| 5 | g.69419841A>G | CA445083706 | MARVELD2 | c.456A>G (p.Ala152=) | dbSNP gnomAD v4 |
| 5 | g.69419841A>T | CA445083708 | MARVELD2 | c.456A>T (p.Ala152=) | |
| 5 | g.69419842G>A | CA359923550 | MARVELD2 | c.457G>A (p.Val153Met) | gnomAD v4 |
| 5 | g.69419842G>C | CA359923551 | MARVELD2 | c.457G>C (p.Val153Leu) | |
| 5 | g.69419842G>T | CA359923552 | MARVELD2 | c.457G>T (p.Val153Leu) | |
| 5 | g.69419843T>A | CA359923555 | MARVELD2 | c.458T>A (p.Val153Glu) | |
| 5 | g.69419843T>C | CA3294052 | MARVELD2 | c.458T>C (p.Val153Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419843T>G | CA359923557 | MARVELD2 | c.458T>G (p.Val153Gly) | |
| 5 | g.69419843T= | CA1553916295 | MARVELD2 | c.458T= (p.Val153=) | |
| 5 | g.69419844G>A | CA445083723 | MARVELD2 | c.459G>A (p.Val153=) | gnomAD v4 |
| 5 | g.69419844G>C | CA445083721 | MARVELD2 | c.459G>C (p.Val153=) | gnomAD v4 |
| 5 | g.69419844G>T | CA445083720 | MARVELD2 | c.459G>T (p.Val153=) | |
| 5 | g.69419845T>A | CA359923559 | MARVELD2 | c.460T>A (p.Phe154Ile) | |
| 5 | g.69419845T>C | CA359923561 | MARVELD2 | c.460T>C (p.Phe154Leu) | |
| 5 | g.69419845T>G | CA359923562 | MARVELD2 | c.460T>G (p.Phe154Val) | |
| 5 | g.69419846T>A | CA359923564 | MARVELD2 | c.461T>A (p.Phe154Tyr) | |
| 5 | g.69419846T>C | CA359923566 | MARVELD2 | c.461T>C (p.Phe154Ser) | |
| 5 | g.69419846T>G | CA359923567 | MARVELD2 | c.461T>G (p.Phe154Cys) | |
| 5 | g.69419847T>A | CA359923571 | MARVELD2 | c.462T>A (p.Phe154Leu) | |
| 5 | g.69419847T>C | CA445083729 | MARVELD2 | c.462T>C (p.Phe154=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419847T>G | CA359923569 | MARVELD2 | c.462T>G (p.Phe154Leu) | |
| 5 | g.69419847T= | CA1553916298 | MARVELD2 | c.462T= (p.Phe154=) | |
| 5 | g.69419848C>A | CA359923574 | MARVELD2 | c.463C>A (p.Pro155Thr) | |
| 5 | g.69419848C>G | CA359923575 | MARVELD2 | c.463C>G (p.Pro155Ala) | |
| 5 | g.69419848C>T | CA359923577 | MARVELD2 | c.463C>T (p.Pro155Ser) | |
| 5 | g.69419849C>A | CA359923579 | MARVELD2 | c.464C>A (p.Pro155His) | |
| 5 | g.69419849C= | CA1553916300 | MARVELD2 | c.464C= (p.Pro155=) | |
| 5 | g.69419849C>G | CA3294053 | MARVELD2 | c.464C>G (p.Pro155Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419849C>T | CA359923582 | MARVELD2 | c.464C>T (p.Pro155Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419850C>A | CA445083734 | MARVELD2 | c.465C>A (p.Pro155=) | |
| 5 | g.69419850C>G | CA445083736 | MARVELD2 | c.465C>G (p.Pro155=) | |
| 5 | g.69419850C>T | CA445083735 | MARVELD2 | c.465C>T (p.Pro155=) | gnomAD v4 |
| 5 | g.69419851C>A | CA445083738 | MARVELD2 | c.466C>A (p.Arg156=) | |
| 5 | g.69419851C= | CA1553916303 | MARVELD2 | c.466C= (p.Arg156=) | |
| 5 | g.69419851C>G | CA359923584 | MARVELD2 | c.466C>G (p.Arg156Gly) | |
| 5 | g.69419851C>T | CA3294054 | MARVELD2 | c.466C>T (p.Arg156Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419852G>A | CA359923587 | MARVELD2 | c.467G>A (p.Arg156Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419852G>C | CA359923589 | MARVELD2 | c.467G>C (p.Arg156Pro) | |
| 5 | g.69419852G= | CA1553916304 | MARVELD2 | c.467G= (p.Arg156=) | |
| 5 | g.69419852G>T | CA359923590 | MARVELD2 | c.467G>T (p.Arg156Leu) | |
| 5 | g.69419853G>A | CA445083748 | MARVELD2 | c.468G>A (p.Arg156=) | gnomAD v4 COSMIC |
| 5 | g.69419853G>C | CA445083749 | MARVELD2 | c.468G>C (p.Arg156=) | |
| 5 | g.69419853G>T | CA445083750 | MARVELD2 | c.468G>T (p.Arg156=) | |
| 5 | g.69419854G>A | CA359923592 | MARVELD2 | c.469G>A (p.Asp157Asn) | |
| 5 | g.69419854G>C | CA359923594 | MARVELD2 | c.469G>C (p.Asp157His) | |
| 5 | g.69419854G= | CA1553916308 | MARVELD2 | c.469G= (p.Asp157=) | |
| 5 | g.69419854G>T | CA359923596 | MARVELD2 | c.469G>T (p.Asp157Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419855A>C | CA359923599 | MARVELD2 | c.470A>C (p.Asp157Ala) | |
| 5 | g.69419855A>G | CA359923601 | MARVELD2 | c.470A>G (p.Asp157Gly) | |
| 5 | g.69419855A>T | CA359923598 | MARVELD2 | c.470A>T (p.Asp157Val) | |
| 5 | g.69419856T>A | CA359923604 | MARVELD2 | c.471T>A (p.Asp157Glu) | |
| 5 | g.69419856T>C | CA445083756 | MARVELD2 | c.471T>C (p.Asp157=) | |
| 5 | g.69419856T>G | CA359923603 | MARVELD2 | c.471T>G (p.Asp157Glu) | |
| 5 | g.69419857C>A | CA359923606 | MARVELD2 | c.472C>A (p.Pro158Thr) | |
| 5 | g.69419857C= | CA1553916312 | MARVELD2 | c.472C= (p.Pro158=) | |
| 5 | g.69419857C>G | CA359923608 | MARVELD2 | c.472C>G (p.Pro158Ala) | dbSNP |
| 5 | g.69419857C>T | CA3294055 | MARVELD2 | c.472C>T (p.Pro158Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419858C>A | CA359923611 | MARVELD2 | c.473C>A (p.Pro158His) | |
| 5 | g.69419858C= | CA1553916316 | MARVELD2 | c.473C= (p.Pro158=) | |
| 5 | g.69419858C>G | CA359923613 | MARVELD2 | c.473C>G (p.Pro158Arg) | |
| 5 | g.69419858C>T | CA3294056 | MARVELD2 | c.473C>T (p.Pro158Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.69419859C>A | CA445083762 | MARVELD2 | c.474C>A (p.Pro158=) | |
| 5 | g.69419859C= | CA1553916318 | MARVELD2 | c.474C= (p.Pro158=) | |
| 5 | g.69419859C>G | CA445083764 | MARVELD2 | c.474C>G (p.Pro158=) | dbSNP |
| 5 | g.69419859C>T | CA445083769 | MARVELD2 | c.474C>T (p.Pro158=) | |
| 5 | g.69419860T>A | CA359923616 | MARVELD2 | c.475T>A (p.Tyr159Asn) | |
| 5 | g.69419860T>C | CA3294057 | MARVELD2 | c.475T>C (p.Tyr159His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419860T>G | CA359923618 | MARVELD2 | c.475T>G (p.Tyr159Asp) | |
| 5 | g.69419860T= | CA1553916323 | MARVELD2 | c.475T= (p.Tyr159=) | |
| 5 | g.69419861A= | CA1553916330 | MARVELD2 | c.476A= (p.Tyr159=) | |
| 5 | g.69419861A>C | CA359923621 | MARVELD2 | c.476A>C (p.Tyr159Ser) | |
| 5 | g.69419861A>G | CA3294058 | MARVELD2 | c.476A>G (p.Tyr159Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419861A>T | CA359923623 | MARVELD2 | c.476A>T (p.Tyr159Phe) | COSMIC |
| 5 | g.69419862T>A | CA359923624 | MARVELD2 | c.477T>A (p.Tyr159Ter) | |
| 5 | g.69419862T>C | CA445083774 | MARVELD2 | c.477T>C (p.Tyr159=) | dbSNP gnomAD v4 |
| 5 | g.69419862T>G | CA359923626 | MARVELD2 | c.477T>G (p.Tyr159Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419862T= | CA1553916333 | MARVELD2 | c.477T= (p.Tyr159=) | |
| 5 | g.69419863G>A | CA359923629 | MARVELD2 | c.478G>A (p.Gly160Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419863G>C | CA359923631 | MARVELD2 | c.478G>C (p.Gly160Arg) | |
| 5 | g.69419863G= | CA1553916337 | MARVELD2 | c.478G= (p.Gly160=) | |
| 5 | g.69419863G>T | CA359923632 | MARVELD2 | c.478G>T (p.Gly160Ter) | |
| 5 | g.69419863_69419864delinsAA | CA645551528 | MARVELD2 | c.478_479delinsAA (p.Gly160Lys) | COSMIC |
| 5 | g.69419864G>A | CA359923635 | MARVELD2 | c.479G>A (p.Gly160Glu) | |
| 5 | g.69419864G>C | CA359923636 | MARVELD2 | c.479G>C (p.Gly160Ala) | |
| 5 | g.69419864G>T | CA359923638 | MARVELD2 | c.479G>T (p.Gly160Val) | COSMIC |
| 5 | g.69419865A>C | CA445083784 | MARVELD2 | c.480A>C (p.Gly160=) | |
| 5 | g.69419865A>G | CA445083782 | MARVELD2 | c.480A>G (p.Gly160=) | |
| 5 | g.69419865A>T | CA445083783 | MARVELD2 | c.480A>T (p.Gly160=) | |
| 5 | g.69419866T>A | CA359923640 | MARVELD2 | c.481T>A (p.Ser161Thr) | |
| 5 | g.69419866T>C | CA359923641 | MARVELD2 | c.481T>C (p.Ser161Pro) | |
| 5 | g.69419866T>G | CA359923643 | MARVELD2 | c.481T>G (p.Ser161Ala) | |
| 5 | g.69419867C>A | CA359923645 | MARVELD2 | c.482C>A (p.Ser161Tyr) | |
| 5 | g.69419867C= | CA1553916339 | MARVELD2 | c.482C= (p.Ser161=) | |
| 5 | g.69419867C>G | CA359923647 | MARVELD2 | c.482C>G (p.Ser161Cys) | gnomAD v4 |
| 5 | g.69419867C>T | CA359923648 | MARVELD2 | c.482C>T (p.Ser161Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419868T>A | CA445083792 | MARVELD2 | c.483T>A (p.Ser161=) | |
| 5 | g.69419868T>C | CA445083793 | MARVELD2 | c.483T>C (p.Ser161=) | gnomAD v4 |
| 5 | g.69419868T>G | CA445083794 | MARVELD2 | c.483T>G (p.Ser161=) | |
| 5 | g.69419869C>A | CA359923650 | MARVELD2 | c.484C>A (p.Leu162Ile) | |
| 5 | g.69419869C>G | CA359923649 | MARVELD2 | c.484C>G (p.Leu162Val) | gnomAD v4 |
| 5 | g.69419869C>T | CA445083801 | MARVELD2 | c.484C>T (p.Leu162=) | dbSNP |
| 5 | g.69419870T>A | CA359923651 | MARVELD2 | c.485T>A (p.Leu162Gln) | |
| 5 | g.69419870T>C | CA359923653 | MARVELD2 | c.485T>C (p.Leu162Pro) | |
| 5 | g.69419870T>G | CA359923655 | MARVELD2 | c.485T>G (p.Leu162Arg) | |
| 5 | g.69419871A>C | CA445083810 | MARVELD2 | c.486A>C (p.Leu162=) | |
| 5 | g.69419871A>G | CA445083809 | MARVELD2 | c.486A>G (p.Leu162=) | gnomAD v4 |
| 5 | g.69419871A>T | CA445083811 | MARVELD2 | c.486A>T (p.Leu162=) | |
| 5 | g.69419872G>A | CA359923657 | MARVELD2 | c.487G>A (p.Asp163Asn) | |
| 5 | g.69419872G>C | CA359923659 | MARVELD2 | c.487G>C (p.Asp163His) | |
| 5 | g.69419872G>T | CA359923661 | MARVELD2 | c.487G>T (p.Asp163Tyr) | |
| 5 | g.69419873A>C | CA359923662 | MARVELD2 | c.488A>C (p.Asp163Ala) | |
| 5 | g.69419873A>G | CA359923663 | MARVELD2 | c.488A>G (p.Asp163Gly) | gnomAD v4 |
| 5 | g.69419873A>T | CA359923665 | MARVELD2 | c.488A>T (p.Asp163Val) | |
| 5 | g.69419874C>A | CA359923667 | MARVELD2 | c.489C>A (p.Asp163Glu) | |
| 5 | g.69419874C>G | CA359923669 | MARVELD2 | c.489C>G (p.Asp163Glu) | |
| 5 | g.69419874C>T | CA445083819 | MARVELD2 | c.489C>T (p.Asp163=) | gnomAD v4 |
| 5 | g.69419875C>A | CA445083823 | MARVELD2 | c.490C>A (p.Arg164=) | |
| 5 | g.69419875C= | CA1553916343 | MARVELD2 | c.490C= (p.Arg164=) | |
| 5 | g.69419875C>G | CA359923670 | MARVELD2 | c.490C>G (p.Arg164Gly) | |
| 5 | g.69419875C>T | CA3294059 | MARVELD2 | c.490C>T (p.Arg164Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419876G>A | CA3294060 | MARVELD2 | c.491G>A (p.Arg164Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419876G>C | CA3294061 | MARVELD2 | c.491G>C (p.Arg164Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419876G= | CA1553916348 | MARVELD2 | c.491G= (p.Arg164=) | |
| 5 | g.69419876G>T | CA359923671 | MARVELD2 | c.491G>T (p.Arg164Leu) | |
| 5 | g.69419877A>C | CA445083829 | MARVELD2 | c.492A>C (p.Arg164=) | |
| 5 | g.69419877A>G | CA445083845 | MARVELD2 | c.492A>G (p.Arg164=) | |
| 5 | g.69419877A>T | CA445083847 | MARVELD2 | c.492A>T (p.Arg164=) | |
| 5 | g.69419884_69419885del | CA2578329377 | MARVELD2 | c.499_500del (p.Gln167AsnfsTer7) | gnomAD v4 |
| 5 | g.69419878C>A | CA359923672 | MARVELD2 | c.493C>A (p.His165Asn) | |
| 5 | g.69419878C>G | CA359923673 | MARVELD2 | c.493C>G (p.His165Asp) | |
| 5 | g.69419878C>T | CA359923674 | MARVELD2 | c.493C>T (p.His165Tyr) | gnomAD v4 |
| 5 | g.69419879A= | CA1553916354 | MARVELD2 | c.494A= (p.His165=) | |
| 5 | g.69419879A>C | CA359923675 | MARVELD2 | c.494A>C (p.His165Pro) | |
| 5 | g.69419879A>G | CA176714 | MARVELD2 | c.494A>G (p.His165Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419879A>T | CA359923676 | MARVELD2 | c.494A>T (p.His165Leu) | |
| 5 | g.69419880C>A | CA359923677 | MARVELD2 | c.495C>A (p.His165Gln) | |
| 5 | g.69419880C>G | CA359923678 | MARVELD2 | c.495C>G (p.His165Gln) | |
| 5 | g.69419880C>T | CA445083858 | MARVELD2 | c.495C>T (p.His165=) | gnomAD v4 |
| 5 | g.69419881A>C | CA359923679 | MARVELD2 | c.496A>C (p.Thr166Pro) | |
| 5 | g.69419881A>G | CA359923680 | MARVELD2 | c.496A>G (p.Thr166Ala) | |
| 5 | g.69419881A>T | CA359923681 | MARVELD2 | c.496A>T (p.Thr166Ser) | |
| 5 | g.69419882C>A | CA359923682 | MARVELD2 | c.497C>A (p.Thr166Lys) | |
| 5 | g.69419882C= | CA1553916530 | MARVELD2 | c.497C= (p.Thr166=) | |
| 5 | g.69419882C>G | CA359923683 | MARVELD2 | c.497C>G (p.Thr166Arg) | |
| 5 | g.69419882C>T | CA3294062 | MARVELD2 | c.497C>T (p.Thr166Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419883A>C | CA445083865 | MARVELD2 | c.498A>C (p.Thr166=) | |
| 5 | g.69419883A>G | CA445083866 | MARVELD2 | c.498A>G (p.Thr166=) | |
| 5 | g.69419883A>T | CA445083868 | MARVELD2 | c.498A>T (p.Thr166=) | |
| 5 | g.69419884C>A | CA359923686 | MARVELD2 | c.499C>A (p.Gln167Lys) | |
| 5 | g.69419884C>G | CA359923685 | MARVELD2 | c.499C>G (p.Gln167Glu) | |
| 5 | g.69419884C>T | CA359923684 | MARVELD2 | c.499C>T (p.Gln167Ter) | |
| 5 | g.69419884_69419886delinsCAA | CA1553916537 | MARVELD2 | c.499_501delinsCAA (p.Gln167=) |