| 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=)
| |
| 5 | g.69419885A= | CA1553916544 | MARVELD2 | c.500A= (p.Gln167=)
| |
| 5 | g.69419885A>C | CA359923687 | MARVELD2 | c.500A>C (p.Gln167Pro)
| |
| 5 | g.69419885A>G | CA182266 | MARVELD2 | c.500A>G (p.Gln167Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419885A>T | CA359923688 | MARVELD2 | c.500A>T (p.Gln167Leu)
| |
| 5 | g.69419886_69419887del | CA560299377 | MARVELD2 | c.501_502del (p.Gln167HisfsTer7)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419886A>C | CA359923689 | MARVELD2 | c.501A>C (p.Gln167His)
| |
| 5 | g.69419886A>G | CA445083877 | MARVELD2 | c.501A>G (p.Gln167=)
| |
| 5 | g.69419886A>T | CA359923690 | MARVELD2 | c.501A>T (p.Gln167His)
| |
| 5 | g.69419887A>C | CA359923691 | MARVELD2 | c.502A>C (p.Thr168Pro)
| |
| 5 | g.69419887A>G | CA359923692 | MARVELD2 | c.502A>G (p.Thr168Ala)
| gnomAD v4 |
| 5 | g.69419887A>T | CA359923693 | MARVELD2 | c.502A>T (p.Thr168Ser)
| |
| 5 | g.69419888C>A | CA359923694 | MARVELD2 | c.503C>A (p.Thr168Lys)
| |
| 5 | g.69419888C>G | CA359923695 | MARVELD2 | c.503C>G (p.Thr168Arg)
| |
| 5 | g.69419888C>T | CA359923696 | MARVELD2 | c.503C>T (p.Thr168Ile)
| |
| 5 | g.69419888_69419889delinsCA | CA1553916550 | MARVELD2 | c.503_504delinsCA (p.Thr168=)
| |
| 5 | g.69419889del | CA3294063 | MARVELD2 | c.504del (p.Val169PhefsTer13)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419889A= | CA1553916560 | MARVELD2 | c.504A= (p.Thr168=)
| |
| 5 | g.69419889A>C | CA445083888 | MARVELD2 | c.504A>C (p.Thr168=)
| |
| 5 | g.69419889A>G | CA3294064 | MARVELD2 | c.504A>G (p.Thr168=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419889A>T | CA445083889 | MARVELD2 | c.504A>T (p.Thr168=)
| |
| 5 | g.69419890G>A | CA359923697 | MARVELD2 | c.505G>A (p.Val169Ile)
| |
| 5 | g.69419890G>C | CA359923698 | MARVELD2 | c.505G>C (p.Val169Leu)
| |
| 5 | g.69419890G>T | CA359923699 | MARVELD2 | c.505G>T (p.Val169Phe)
| |
| 5 | g.69419891T>A | CA359923700 | MARVELD2 | c.506T>A (p.Val169Asp)
| |
| 5 | g.69419891T>C | CA359923701 | MARVELD2 | c.506T>C (p.Val169Ala)
| gnomAD v4 |
| 5 | g.69419891T>G | CA359923702 | MARVELD2 | c.506T>G (p.Val169Gly)
| gnomAD v4 |
| 5 | g.69419892T>A | CA445083895 | MARVELD2 | c.507T>A (p.Val169=)
| |
| 5 | g.69419892T>C | CA445083897 | MARVELD2 | c.507T>C (p.Val169=)
| |
| 5 | g.69419892T>G | CA445083896 | MARVELD2 | c.507T>G (p.Val169=)
| |
| 5 | g.69419893C>A | CA445083898 | MARVELD2 | c.508C>A (p.Arg170=)
| dbSNP |
| 5 | g.69419893C= | CA1553916563 | MARVELD2 | c.508C= (p.Arg170=)
| |
| 5 | g.69419893C>G | CA359923703 | MARVELD2 | c.508C>G (p.Arg170Gly)
| gnomAD v4 |
| 5 | g.69419893C>T | CA3294065 | MARVELD2 | c.508C>T (p.Arg170Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69419894G>A | CA3294066 | MARVELD2 | c.509G>A (p.Arg170Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419894G>C | CA359923704 | MARVELD2 | c.509G>C (p.Arg170Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419894G= | CA1553916569 | MARVELD2 | c.509G= (p.Arg170=)
| |
| 5 | g.69419894G>T | CA359923705 | MARVELD2 | c.509G>T (p.Arg170Leu)
| gnomAD v4 |
| 5 | g.69419895A>C | CA445083900 | MARVELD2 | c.510A>C (p.Arg170=)
| |
| 5 | g.69419895A>G | CA445083901 | MARVELD2 | c.510A>G (p.Arg170=)
| |
| 5 | g.69419895A>T | CA445083903 | MARVELD2 | c.510A>T (p.Arg170=)
| |
| 5 | g.69419896A>C | CA359923706 | MARVELD2 | c.511A>C (p.Thr171Pro)
| |
| 5 | g.69419896A>G | CA359923707 | MARVELD2 | c.511A>G (p.Thr171Ala)
| gnomAD v4 |
| 5 | g.69419896A>T | CA359923708 | MARVELD2 | c.511A>T (p.Thr171Ser)
| |
| 5 | g.69419897C>A | CA359923709 | MARVELD2 | c.512C>A (p.Thr171Lys)
| |
| 5 | g.69419897C>G | CA359923710 | MARVELD2 | c.512C>G (p.Thr171Arg)
| |
| 5 | g.69419897C>T | CA359923711 | MARVELD2 | c.512C>T (p.Thr171Ile)
| |
| 5 | g.69419897_69419899del | CA2674131199 | MARVELD2 | c.512_514del (p.Thr171_Tyr172delinsAsn)
| gnomAD v4 |
| 5 | g.69419898A>C | CA445083908 | MARVELD2 | c.513A>C (p.Thr171=)
| |
| 5 | g.69419898A>G | CA445083910 | MARVELD2 | c.513A>G (p.Thr171=)
| |
| 5 | g.69419898A>T | CA445083912 | MARVELD2 | c.513A>T (p.Thr171=)
| gnomAD v4 |
| 5 | g.69419899T>A | CA359923712 | MARVELD2 | c.514T>A (p.Tyr172Asn)
| |
| 5 | g.69419899T>C | CA3294067 | MARVELD2 | c.514T>C (p.Tyr172His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419899T>G | CA359923713 | MARVELD2 | c.514T>G (p.Tyr172Asp)
| gnomAD v4 |
| 5 | g.69419899T= | CA1553916575 | MARVELD2 | c.514T= (p.Tyr172=)
| |
| 5 | g.69419900A= | CA1553916583 | MARVELD2 | c.515A= (p.Tyr172=)
| |
| 5 | g.69419900A>C | CA359923714 | MARVELD2 | c.515A>C (p.Tyr172Ser)
| |
| 5 | g.69419900A>G | CA359923716 | MARVELD2 | c.515A>G (p.Tyr172Cys)
| gnomAD v4 |
| 5 | g.69419900A>T | CA359923715 | MARVELD2 | c.515A>T (p.Tyr172Phe)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419900dup | CA1553916585 | MARVELD2 | c.515dup (p.Tyr172Ter)
| dbSNP gnomAD v4 |
| 5 | g.69419901C>A | CA359923717 | MARVELD2 | c.516C>A (p.Tyr172Ter)
| |
| 5 | g.69419901C>G | CA359923718 | MARVELD2 | c.516C>G (p.Tyr172Ter)
| |
| 5 | g.69419901C>T | CA445083922 | MARVELD2 | c.516C>T (p.Tyr172=)
| gnomAD v4 |
| 5 | g.69419902A= | CA1553916589 | MARVELD2 | c.517A= (p.Ser173=)
| |
| 5 | g.69419902A>C | CA359923719 | MARVELD2 | c.517A>C (p.Ser173Arg)
| |
| 5 | g.69419902A>G | CA359923720 | MARVELD2 | c.517A>G (p.Ser173Gly)
| dbSNP |
| 5 | g.69419902A>T | CA359923721 | MARVELD2 | c.517A>T (p.Ser173Cys)
| |
| 5 | g.69419903G>A | CA119991579 | MARVELD2 | c.518G>A (p.Ser173Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419903G>C | CA359923722 | MARVELD2 | c.518G>C (p.Ser173Thr)
| gnomAD v4 |
| 5 | g.69419903G= | CA1553916591 | MARVELD2 | c.518G= (p.Ser173=)
| |
| 5 | g.69419903G>T | CA359923723 | MARVELD2 | c.518G>T (p.Ser173Ile)
| gnomAD v4 |
| 5 | g.69419904T>A | CA359923724 | MARVELD2 | c.519T>A (p.Ser173Arg)
| |
| 5 | g.69419904T>C | CA445083937 | MARVELD2 | c.519T>C (p.Ser173=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419904T>G | CA359923725 | MARVELD2 | c.519T>G (p.Ser173Arg)
| |
| 5 | g.69419904T= | CA1553916595 | MARVELD2 | c.519T= (p.Ser173=)
| |
| 5 | g.69419905G>A | CA359923726 | MARVELD2 | c.520G>A (p.Glu174Lys)
| |
| 5 | g.69419905G>C | CA359923727 | MARVELD2 | c.520G>C (p.Glu174Gln)
| |
| 5 | g.69419905G>T | CA359923728 | MARVELD2 | c.520G>T (p.Glu174Ter)
| |
| 5 | g.69419906A= | CA1553916598 | MARVELD2 | c.521A= (p.Glu174=)
| |
| 5 | g.69419906A>C | CA3294068 | MARVELD2 | c.521A>C (p.Glu174Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419906A>G | CA359923730 | MARVELD2 | c.521A>G (p.Glu174Gly)
| |
| 5 | g.69419906A>T | CA359923729 | MARVELD2 | c.521A>T (p.Glu174Val)
| |
| 5 | g.69419907G>A | CA445083942 | MARVELD2 | c.522G>A (p.Glu174=)
| |
| 5 | g.69419907G>C | CA359923731 | MARVELD2 | c.522G>C (p.Glu174Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419907G= | CA1553916602 | MARVELD2 | c.522G= (p.Glu174=)
| |
| 5 | g.69419907G>T | CA359923732 | MARVELD2 | c.522G>T (p.Glu174Asp)
| |
| 5 | g.69419908A>C | CA359923733 | MARVELD2 | c.523A>C (p.Lys175Gln)
| |
| 5 | g.69419908A>G | CA359923734 | MARVELD2 | c.523A>G (p.Lys175Glu)
| |
| 5 | g.69419908A>T | CA359923735 | MARVELD2 | c.523A>T (p.Lys175Ter)
| |
| 5 | g.69419909A>C | CA359923736 | MARVELD2 | c.524A>C (p.Lys175Thr)
| |
| 5 | g.69419909A>G | CA359923737 | MARVELD2 | c.524A>G (p.Lys175Arg)
| gnomAD v4 |
| 5 | g.69419909A>T | CA359923738 | MARVELD2 | c.524A>T (p.Lys175Met)
| |
| 5 | g.69419910G>A | CA445083954 | MARVELD2 | c.525G>A (p.Lys175=)
| |
| 5 | g.69419910G>C | CA359923739 | MARVELD2 | c.525G>C (p.Lys175Asn)
| |
| 5 | g.69419910G>T | CA359923740 | MARVELD2 | c.525G>T (p.Lys175Asn)
| |
| 5 | g.69419911G>A | CA359923742 | MARVELD2 | c.526G>A (p.Val176Met)
| gnomAD v4 |
| 5 | g.69419911G>C | CA359923743 | MARVELD2 | c.526G>C (p.Val176Leu)
| |
| 5 | g.69419911G>T | CA359923741 | MARVELD2 | c.526G>T (p.Val176Leu)
| |
| 5 | g.69419912T>A | CA359923744 | MARVELD2 | c.527T>A (p.Val176Glu)
| |
| 5 | g.69419912T>C | CA359923745 | MARVELD2 | c.527T>C (p.Val176Ala)
| dbSNP |
| 5 | g.69419912T>G | CA359923746 | MARVELD2 | c.527T>G (p.Val176Gly)
| |
| 5 | g.69419912T= | CA1553916604 | MARVELD2 | c.527T= (p.Val176=)
| |
| 5 | g.69419913G>A | CA445083965 | MARVELD2 | c.528G>A (p.Val176=)
| gnomAD v4 |
| 5 | g.69419913G>C | CA445083967 | MARVELD2 | c.528G>C (p.Val176=)
| |
| 5 | g.69419913G>T | CA445083969 | MARVELD2 | c.528G>T (p.Val176=)
| |
| 5 | g.69419917_69419919del | CA2674131222 | MARVELD2 | c.532_534del (p.Glu178del)
| gnomAD v4 |
| 5 | g.69419914G>A | CA359923747 | MARVELD2 | c.529G>A (p.Glu177Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419914G>C | CA359923748 | MARVELD2 | c.529G>C (p.Glu177Gln)
| gnomAD v4 |
| 5 | g.69419914G= | CA1553916607 | MARVELD2 | c.529G= (p.Glu177=)
| |
| 5 | g.69419914G>T | CA359923749 | MARVELD2 | c.529G>T (p.Glu177Ter)
| |
| 5 | g.69419915A= | CA1553916610 | MARVELD2 | c.530A= (p.Glu177=)
| |
| 5 | g.69419915A>C | CA359923750 | MARVELD2 | c.530A>C (p.Glu177Ala)
| |
| 5 | g.69419915A>G | CA3294069 | MARVELD2 | c.530A>G (p.Glu177Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419915A>T | CA359923751 | MARVELD2 | c.530A>T (p.Glu177Val)
| |
| 5 | g.69419916G>A | CA3294070 | MARVELD2 | c.531G>A (p.Glu177=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419916G>C | CA359923752 | MARVELD2 | c.531G>C (p.Glu177Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419916G= | CA1553916612 | MARVELD2 | c.531G= (p.Glu177=)
| |
| 5 | g.69419916G>T | CA359923753 | MARVELD2 | c.531G>T (p.Glu177Asp)
| |
| 5 | g.69419917G>A | CA359923756 | MARVELD2 | c.532G>A (p.Glu178Lys)
| |
| 5 | g.69419917G>C | CA359923755 | MARVELD2 | c.532G>C (p.Glu178Gln)
| |
| 5 | g.69419917G>T | CA359923754 | MARVELD2 | c.532G>T (p.Glu178Ter)
| |
| 5 | g.69419918A= | CA1553916618 | MARVELD2 | c.533A= (p.Glu178=)
| |
| 5 | g.69419918A>C | CA359923757 | MARVELD2 | c.533A>C (p.Glu178Ala)
| |
| 5 | g.69419918A>G | CA3294071 | MARVELD2 | c.533A>G (p.Glu178Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419918A>T | CA359923758 | MARVELD2 | c.533A>T (p.Glu178Val)
| |
| 5 | g.69419919G>A | CA3294072 | MARVELD2 | c.534G>A (p.Glu178=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419919G>C | CA359923759 | MARVELD2 | c.534G>C (p.Glu178Asp)
| |
| 5 | g.69419919G= | CA1553916620 | MARVELD2 | c.534G= (p.Glu178=)
| |
| 5 | g.69419919G>T | CA359923760 | MARVELD2 | c.534G>T (p.Glu178Asp)
| |
| 5 | g.69419920T>A | CA359923761 | MARVELD2 | c.535T>A (p.Tyr179Asn)
| |
| 5 | g.69419920T>C | CA359923762 | MARVELD2 | c.535T>C (p.Tyr179His)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419920T>G | CA359923763 | MARVELD2 | c.535T>G (p.Tyr179Asp)
| |
| 5 | g.69419920T= | CA1553916623 | MARVELD2 | c.535T= (p.Tyr179=)
| |
| 5 | g.69419921A>C | CA359923764 | MARVELD2 | c.536A>C (p.Tyr179Ser)
| |
| 5 | g.69419921A>G | CA359923765 | MARVELD2 | c.536A>G (p.Tyr179Cys)
| |
| 5 | g.69419921A>T | CA359923766 | MARVELD2 | c.536A>T (p.Tyr179Phe)
| |
| 5 | g.69419922T>A | CA359923767 | MARVELD2 | c.537T>A (p.Tyr179Ter)
| |
| 5 | g.69419922T>C | CA445083989 | MARVELD2 | c.537T>C (p.Tyr179=)
| |
| 5 | g.69419922T>G | CA359923768 | MARVELD2 | c.537T>G (p.Tyr179Ter)
| |
| 5 | g.69419923A= | CA1553916625 | MARVELD2 | c.538A= (p.Asn180=)
| |
| 5 | g.69419923A>C | CA359923770 | MARVELD2 | c.538A>C (p.Asn180His)
| |
| 5 | g.69419923A>G | CA359923771 | MARVELD2 | c.538A>G (p.Asn180Asp)
| |
| 5 | g.69419923A>T | CA359923769 | MARVELD2 | c.538A>T (p.Asn180Tyr)
| |
| 5 | g.69419924A>C | CA359923772 | MARVELD2 | c.539A>C (p.Asn180Thr)
| |
| 5 | g.69419924A>G | CA359923773 | MARVELD2 | c.539A>G (p.Asn180Ser)
| |
| 5 | g.69419924A>T | CA359923774 | MARVELD2 | c.539A>T (p.Asn180Ile)
| |
| 5 | g.69419926_69419934dup | CA813532978 | MARVELD2 | c.541_549dup (p.Tyr183_Ser184insLeuArgTyr)
| dbSNP |
| 5 | g.69419925C>A | CA359923775 | MARVELD2 | c.540C>A (p.Asn180Lys)
| |
| 5 | g.69419925C>G | CA359923776 | MARVELD2 | c.540C>G (p.Asn180Lys)
| |
| 5 | g.69419925C>T | CA445083994 | MARVELD2 | c.540C>T (p.Asn180=)
| |
| 5 | g.69419926C>A | CA359923777 | MARVELD2 | c.541C>A (p.Leu181Met)
| |
| 5 | g.69419926C= | CA1553916629 | MARVELD2 | c.541C= (p.Leu181=)
| |
| 5 | g.69419926C>G | CA3294073 | MARVELD2 | c.541C>G (p.Leu181Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419926C>T | CA445083996 | MARVELD2 | c.541C>T (p.Leu181=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419927T>A | CA359923778 | MARVELD2 | c.542T>A (p.Leu181Gln)
| |
| 5 | g.69419927T>C | CA359923779 | MARVELD2 | c.542T>C (p.Leu181Pro)
| |
| 5 | g.69419927T>G | CA359923780 | MARVELD2 | c.542T>G (p.Leu181Arg)
| |
| 5 | g.69419928G>A | CA445084003 | MARVELD2 | c.543G>A (p.Leu181=)
| |
| 5 | g.69419928G>C | CA445084004 | MARVELD2 | c.543G>C (p.Leu181=)
| |
| 5 | g.69419928G>T | CA445084005 | MARVELD2 | c.543G>T (p.Leu181=)
| |
