| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.69420208A>C | CA359924690 | MARVELD2 | c.823A>C (p.Met275Leu) c.725+98A>C (n.725+98A>C) | |
| 5 | g.69420208A>G | CA359924692 | MARVELD2 | c.823A>G (p.Met275Val) c.725+98A>G (n.725+98A>G) | |
| 5 | g.69420208A>T | CA359924694 | MARVELD2 | c.823A>T (p.Met275Leu) c.725+98A>T (n.725+98A>T) | |
| 5 | g.69420209T>A | CA359924697 | MARVELD2 | c.824T>A (p.Met275Lys) c.725+99T>A (n.725+99T>A) | |
| 5 | g.69420209T>C | CA359924698 | MARVELD2 | c.824T>C (p.Met275Thr) c.725+99T>C (n.725+99T>C) | |
| 5 | g.69420209T>G | CA359924699 | MARVELD2 | c.824T>G (p.Met275Arg) c.725+99T>G (n.725+99T>G) | |
| 5 | g.69420210G>A | CA359924705 | MARVELD2 | c.825G>A (p.Met275Ile) c.725+100G>A (n.725+100G>A) | |
| 5 | g.69420210G>C | CA359924704 | MARVELD2 | c.825G>C (p.Met275Ile) c.725+100G>C (n.725+100G>C) | |
| 5 | g.69420210G>T | CA359924703 | MARVELD2 | c.825G>T (p.Met275Ile) c.725+100G>T (n.725+100G>T) | |
| 5 | g.69420211T>A | CA359924708 | MARVELD2 | c.826T>A (p.Ser276Thr) c.725+101T>A (n.725+101T>A) | |
| 5 | g.69420211T>C | CA359924711 | MARVELD2 | c.826T>C (p.Ser276Pro) c.725+101T>C (n.725+101T>C) | gnomAD v4 |
| 5 | g.69420211T>G | CA359924709 | MARVELD2 | c.826T>G (p.Ser276Ala) c.725+101T>G (n.725+101T>G) | |
| 5 | g.69420212C>A | CA359924714 | MARVELD2 | c.827C>A (p.Ser276Tyr) c.725+102C>A (n.725+102C>A) | |
| 5 | g.69420212C>G | CA359924719 | MARVELD2 | c.827C>G (p.Ser276Cys) c.725+102C>G (n.725+102C>G) | |
| 5 | g.69420212C>T | CA359924716 | MARVELD2 | c.827C>T (p.Ser276Phe) c.725+102C>T (n.725+102C>T) | |
| 5 | g.69420213C>A | CA445083312 | MARVELD2 | c.828C>A (p.Ser276=) c.725+103C>A (n.725+103C>A) | |
| 5 | g.69420213C>G | CA445083311 | MARVELD2 | c.828C>G (p.Ser276=) c.725+103C>G (n.725+103C>G) | gnomAD v4 |
| 5 | g.69420213C>T | CA445083309 | MARVELD2 | c.828C>T (p.Ser276=) c.725+103C>T (n.725+103C>T) | |
| 5 | g.69420214A= | CA1553917049 | MARVELD2 | c.829A= (p.Met277=) c.725+104A= (n.725+104A=) | |
| 5 | g.69420214A>C | CA359924720 | MARVELD2 | c.829A>C (p.Met277Leu) c.725+104A>C (n.725+104A>C) | |
| 5 | g.69420214A>G | CA3294121 | MARVELD2 | c.829A>G (p.Met277Val) c.725+104A>G (n.725+104A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420214A>T | CA359924723 | MARVELD2 | c.829A>T (p.Met277Leu) c.725+104A>T (n.725+104A>T) | |
| 5 | g.69420215T>A | CA359924725 | MARVELD2 | c.830T>A (p.Met277Lys) c.725+105T>A (n.725+105T>A) | |
| 5 | g.69420215T>C | CA3294122 | MARVELD2 | c.830T>C (p.Met277Thr) c.725+105T>C (n.725+105T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420215T>G | CA359924727 | MARVELD2 | c.830T>G (p.Met277Arg) c.725+105T>G (n.725+105T>G) | |
| 5 | g.69420215T= | CA1553917050 | MARVELD2 | c.830T= (p.Met277=) c.725+105T= (n.725+105T=) | |
| 5 | g.69420216G>A | CA359924730 | MARVELD2 | c.831G>A (p.Met277Ile) c.725+106G>A (n.725+106G>A) | dbSNP |
| 5 | g.69420216G>C | CA359924731 | MARVELD2 | c.831G>C (p.Met277Ile) c.725+106G>C (n.725+106G>C) | |
| 5 | g.69420216G= | CA1553917051 | MARVELD2 | c.831G= (p.Met277=) c.725+106G= (n.725+106G=) | |
| 5 | g.69420216G>T | CA359924732 | MARVELD2 | c.831G>T (p.Met277Ile) c.725+106G>T (n.725+106G>T) | COSMIC |
| 5 | g.69420217T>A | CA359924735 | MARVELD2 | c.832T>A (p.Tyr278Asn) c.725+107T>A (n.725+107T>A) | |
| 5 | g.69420217T>C | CA359924737 | MARVELD2 | c.832T>C (p.Tyr278His) c.725+107T>C (n.725+107T>C) | |
| 5 | g.69420217T>G | CA359924739 | MARVELD2 | c.832T>G (p.Tyr278Asp) c.725+107T>G (n.725+107T>G) | |
| 5 | g.69420218A= | CA1553917055 | MARVELD2 | c.833A= (p.Tyr278=) c.725+108A= (n.725+108A=) | |
| 5 | g.69420218A>C | CA359924745 | MARVELD2 | c.833A>C (p.Tyr278Ser) c.725+108A>C (n.725+108A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420218A>G | CA359924741 | MARVELD2 | c.833A>G (p.Tyr278Cys) c.725+108A>G (n.725+108A>G) | dbSNP |
| 5 | g.69420218A>T | CA359924743 | MARVELD2 | c.833A>T (p.Tyr278Phe) c.725+108A>T (n.725+108A>T) | |
| 5 | g.69420219T>A | CA359924747 | MARVELD2 | c.834T>A (p.Tyr278Ter) c.725+109T>A (n.725+109T>A) | |
| 5 | g.69420219T>C | CA3294123 | MARVELD2 | c.834T>C (p.Tyr278=) c.725+109T>C (n.725+109T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420219T>G | CA359924750 | MARVELD2 | c.834T>G (p.Tyr278Ter) c.725+109T>G (n.725+109T>G) | |
| 5 | g.69420219T= | CA1553917059 | MARVELD2 | c.834T= (p.Tyr278=) c.725+109T= (n.725+109T=) | |
| 5 | g.69420220T>A | CA359924752 | MARVELD2 | c.835T>A (p.Tyr279Asn) c.725+110T>A (n.725+110T>A) | |
| 5 | g.69420220T>C | CA359924754 | MARVELD2 | c.835T>C (p.Tyr279His) c.725+110T>C (n.725+110T>C) | |
| 5 | g.69420220T>G | CA359924756 | MARVELD2 | c.835T>G (p.Tyr279Asp) c.725+110T>G (n.725+110T>G) | gnomAD v4 |
| 5 | g.69420221A>C | CA359924759 | MARVELD2 | c.836A>C (p.Tyr279Ser) c.725+111A>C (n.725+111A>C) | |
| 5 | g.69420221A>G | CA359924761 | MARVELD2 | c.836A>G (p.Tyr279Cys) c.725+111A>G (n.725+111A>G) | |
| 5 | g.69420221A>T | CA359924762 | MARVELD2 | c.836A>T (p.Tyr279Phe) c.725+111A>T (n.725+111A>T) | |
| 5 | g.69420222C>A | CA359924765 | MARVELD2 | c.837C>A (p.Tyr279Ter) c.725+112C>A (n.725+112C>A) | dbSNP gnomAD v2 |
| 5 | g.69420222C= | CA1553917063 | MARVELD2 | c.837C= (p.Tyr279=) c.725+112C= (n.725+112C=) | |
| 5 | g.69420222C>G | CA359924768 | MARVELD2 | c.837C>G (p.Tyr279Ter) c.725+112C>G (n.725+112C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420222C>T | CA3294124 | MARVELD2 | c.837C>T (p.Tyr279=) c.725+112C>T (n.725+112C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420223C>A | CA445083332 | MARVELD2 | c.838C>A (p.Arg280=) c.725+113C>A (n.725+113C>A) | |
| 5 | g.69420223C= | CA1553917066 | MARVELD2 | c.838C= (p.Arg280=) c.725+113C= (n.725+113C=) | |
| 5 | g.69420223C>G | CA359924772 | MARVELD2 | c.838C>G (p.Arg280Gly) c.725+113C>G (n.725+113C>G) | |
| 5 | g.69420223C>T | CA3294125 | MARVELD2 | c.838C>T (p.Arg280Trp) c.725+113C>T (n.725+113C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420224G>A | CA3294126 | MARVELD2 | c.839G>A (p.Arg280Gln) c.725+114G>A (n.725+114G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69420224G>C | CA359924778 | MARVELD2 | c.839G>C (p.Arg280Pro) c.725+114G>C (n.725+114G>C) | |
| 5 | g.69420224G= | CA1553917070 | MARVELD2 | c.839G= (p.Arg280=) c.725+114G= (n.725+114G=) | |
| 5 | g.69420224G>T | CA359924775 | MARVELD2 | c.839G>T (p.Arg280Leu) c.725+114G>T (n.725+114G>T) | |
| 5 | g.69420225G>A | CA445083339 | MARVELD2 | c.840G>A (p.Arg280=) c.725+115G>A (n.725+115G>A) | |
| 5 | g.69420225G>C | CA445083340 | MARVELD2 | c.840G>C (p.Arg280=) c.725+115G>C (n.725+115G>C) | |
| 5 | g.69420225G>T | CA445083342 | MARVELD2 | c.840G>T (p.Arg280=) c.725+115G>T (n.725+115G>T) | |
| 5 | g.69420226A= | CA1553917071 | MARVELD2 | c.841A= (p.Thr281=) c.725+116A= (n.725+116A=) | |
| 5 | g.69420226A>C | CA359924781 | MARVELD2 | c.841A>C (p.Thr281Pro) c.725+116A>C (n.725+116A>C) | |
| 5 | g.69420226A>G | CA3294127 | MARVELD2 | c.841A>G (p.Thr281Ala) c.725+116A>G (n.725+116A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420226A>T | CA359924783 | MARVELD2 | c.841A>T (p.Thr281Ser) c.725+116A>T (n.725+116A>T) | |
| 5 | g.69420227C>A | CA359924785 | MARVELD2 | c.842C>A (p.Thr281Asn) c.725+117C>A (n.725+117C>A) | gnomAD v4 |
| 5 | g.69420227C>G | CA359924788 | MARVELD2 | c.842C>G (p.Thr281Ser) c.725+117C>G (n.725+117C>G) | |
| 5 | g.69420227C>T | CA359924789 | MARVELD2 | c.842C>T (p.Thr281Ile) c.725+117C>T (n.725+117C>T) | |
| 5 | g.69420228C>A | CA445083351 | MARVELD2 | c.843C>A (p.Thr281=) c.725+118C>A (n.725+118C>A) | |
| 5 | g.69420228C= | CA1553917073 | MARVELD2 | c.843C= (p.Thr281=) c.725+118C= (n.725+118C=) | |
| 5 | g.69420228C>G | CA445083353 | MARVELD2 | c.843C>G (p.Thr281=) c.725+118C>G (n.725+118C>G) | |
| 5 | g.69420228C>T | CA445083355 | MARVELD2 | c.843C>T (p.Thr281=) c.725+118C>T (n.725+118C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420229A= | CA1553917075 | MARVELD2 | c.844A= (p.Ile282=) c.725+119A= (n.725+119A=) | |
| 5 | g.69420229A>C | CA359924792 | MARVELD2 | c.844A>C (p.Ile282Leu) c.725+119A>C (n.725+119A>C) | |
| 5 | g.69420229A>G | CA359924794 | MARVELD2 | c.844A>G (p.Ile282Val) c.725+119A>G (n.725+119A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420229A>T | CA359924796 | MARVELD2 | c.844A>T (p.Ile282Phe) c.725+119A>T (n.725+119A>T) | |
| 5 | g.69420230T>A | CA359924797 | MARVELD2 | c.845T>A (p.Ile282Asn) c.725+120T>A (n.725+120T>A) | |
| 5 | g.69420230T>C | CA359924799 | MARVELD2 | c.845T>C (p.Ile282Thr) c.725+120T>C (n.725+120T>C) | |
| 5 | g.69420230T>G | CA359924801 | MARVELD2 | c.845T>G (p.Ile282Ser) c.725+120T>G (n.725+120T>G) | |
| 5 | g.69420231T>A | CA445083365 | MARVELD2 | c.846T>A (p.Ile282=) c.725+121T>A (n.725+121T>A) | |
| 5 | g.69420231T>C | CA445083364 | MARVELD2 | c.846T>C (p.Ile282=) c.725+121T>C (n.725+121T>C) | |
| 5 | g.69420231T>G | CA359924803 | MARVELD2 | c.846T>G (p.Ile282Met) c.725+121T>G (n.725+121T>G) | |
| 5 | g.69420232C>A | CA359924806 | MARVELD2 | c.847C>A (p.Leu283Ile) c.725+122C>A (n.725+122C>A) | |
| 5 | g.69420232C>G | CA359924808 | MARVELD2 | c.847C>G (p.Leu283Val) c.725+122C>G (n.725+122C>G) | |
| 5 | g.69420232C>T | CA359924810 | MARVELD2 | c.847C>T (p.Leu283Phe) c.725+122C>T (n.725+122C>T) | |
| 5 | g.69420233T>A | CA359924813 | MARVELD2 | c.848T>A (p.Leu283His) c.725+123T>A (n.725+123T>A) | |
| 5 | g.69420233T>C | CA359924814 | MARVELD2 | c.848T>C (p.Leu283Pro) c.725+123T>C (n.725+123T>C) | |
| 5 | g.69420233T>G | CA359924816 | MARVELD2 | c.848T>G (p.Leu283Arg) c.725+123T>G (n.725+123T>G) | |
| 5 | g.69420233_69420243del | CA2578329380 | MARVELD2 | c.848_858del (p.Leu283GlnfsTer7) c.725+123_725+133del (n.725+123_725+133del) | |
| 5 | g.69420234T>A | CA445083371 | MARVELD2 | c.849T>A (p.Leu283=) c.725+124T>A (n.725+124T>A) | |
| 5 | g.69420234T>C | CA445083374 | MARVELD2 | c.849T>C (p.Leu283=) c.725+124T>C (n.725+124T>C) | |
| 5 | g.69420234T>G | CA445083373 | MARVELD2 | c.849T>G (p.Leu283=) c.725+124T>G (n.725+124T>G) | |
| 5 | g.69420235C>A | CA359924819 | MARVELD2 | c.850C>A (p.Leu284Met) c.725+125C>A (n.725+125C>A) | |
| 5 | g.69420235C>G | CA359924820 | MARVELD2 | c.850C>G (p.Leu284Val) c.725+125C>G (n.725+125C>G) | |
| 5 | g.69420235C>T | CA445083377 | MARVELD2 | c.850C>T (p.Leu284=) c.725+125C>T (n.725+125C>T) | |
| 5 | g.69420236T>A | CA359924821 | MARVELD2 | c.851T>A (p.Leu284Gln) c.725+126T>A (n.725+126T>A) | |
| 5 | g.69420236T>C | CA359924822 | MARVELD2 | c.851T>C (p.Leu284Pro) c.725+126T>C (n.725+126T>C) | |
| 5 | g.69420236T>G | CA359924823 | MARVELD2 | c.851T>G (p.Leu284Arg) c.725+126T>G (n.725+126T>G) | |
| 5 | g.69420237G>A | CA445083380 | MARVELD2 | c.852G>A (p.Leu284=) c.725+127G>A (n.725+127G>A) | |
| 5 | g.69420237G>C | CA445083381 | MARVELD2 | c.852G>C (p.Leu284=) c.725+127G>C (n.725+127G>C) | |
| 5 | g.69420237G>T | CA445083382 | MARVELD2 | c.852G>T (p.Leu284=) c.725+127G>T (n.725+127G>T) | |
| 5 | g.69420238G>A | CA359924824 | MARVELD2 | c.853G>A (p.Asp285Asn) c.725+128G>A (n.725+128G>A) | |
| 5 | g.69420238G>C | CA359924825 | MARVELD2 | c.853G>C (p.Asp285His) c.725+128G>C (n.725+128G>C) | |
| 5 | g.69420238G= | CA1553917078 | MARVELD2 | c.853G= (p.Asp285=) c.725+128G= (n.725+128G=) | |
| 5 | g.69420238G>T | CA119992213 | MARVELD2 | c.853G>T (p.Asp285Tyr) c.725+128G>T (n.725+128G>T) | dbSNP |
| 5 | g.69420239A>C | CA359924828 | MARVELD2 | c.854A>C (p.Asp285Ala) c.725+129A>C (n.725+129A>C) | |
| 5 | g.69420239A>G | CA359924826 | MARVELD2 | c.854A>G (p.Asp285Gly) c.725+129A>G (n.725+129A>G) | |
| 5 | g.69420239A>T | CA359924827 | MARVELD2 | c.854A>T (p.Asp285Val) c.725+129A>T (n.725+129A>T) | |
| 5 | g.69420240C>A | CA359924829 | MARVELD2 | c.855C>A (p.Asp285Glu) c.725+130C>A (n.725+130C>A) | gnomAD v4 |
| 5 | g.69420240C= | CA1553917081 | MARVELD2 | c.855C= (p.Asp285=) c.725+130C= (n.725+130C=) | |
| 5 | g.69420240C>G | CA119992233 | MARVELD2 | c.855C>G (p.Asp285Glu) c.725+130C>G (n.725+130C>G) | dbSNP |
| 5 | g.69420240C>T | CA445083391 | MARVELD2 | c.855C>T (p.Asp285=) c.725+130C>T (n.725+130C>T) | |
| 5 | g.69420240_69420246delinsCTCTAAT | CA1553917082 | MARVELD2 | c.855_861delinsCTCTAAT (p.Asp285=) c.725+130_725+136delinsCTCTAAT (n.725+130_725+136delinsCTCTAAT) | |
| 5 | g.69420241T>A | CA359924830 | MARVELD2 | c.856T>A (p.Ser286Thr) c.725+131T>A (n.725+131T>A) | |
| 5 | g.69420241T>C | CA359924831 | MARVELD2 | c.856T>C (p.Ser286Pro) c.725+131T>C (n.725+131T>C) | |
| 5 | g.69420241T>G | CA359924832 | MARVELD2 | c.856T>G (p.Ser286Ala) c.725+131T>G (n.725+131T>G) | |
| 5 | g.69420242_69420247del | CA1553917083 | MARVELD2 | c.857_862del (p.Ser286_Asn287del) c.725+132_725+137del (n.725+132_725+137del) | dbSNP |
| 5 | g.69420242C>A | CA359924833 | MARVELD2 | c.857C>A (p.Ser286Tyr) c.725+132C>A (n.725+132C>A) | gnomAD v4 |
| 5 | g.69420242C= | CA1553917086 | MARVELD2 | c.857C= (p.Ser286=) c.725+132C= (n.725+132C=) | |
| 5 | g.69420242C>G | CA359924834 | MARVELD2 | c.857C>G (p.Ser286Cys) c.725+132C>G (n.725+132C>G) | gnomAD v4 |
| 5 | g.69420242C>T | CA119992236 | MARVELD2 | c.857C>T (p.Ser286Phe) c.725+132C>T (n.725+132C>T) | dbSNP |
| 5 | g.69420243T>A | CA445083396 | MARVELD2 | c.858T>A (p.Ser286=) c.725+133T>A (n.725+133T>A) | |
| 5 | g.69420243T>C | CA445083398 | MARVELD2 | c.858T>C (p.Ser286=) c.725+133T>C (n.725+133T>C) | |
| 5 | g.69420243T>G | CA445083399 | MARVELD2 | c.858T>G (p.Ser286=) c.725+133T>G (n.725+133T>G) | |
| 5 | g.69420243dup | CA2674131399 | MARVELD2 | c.858dup (p.Asn287Ter) c.725+133dup (n.725+133dup) | gnomAD v4 |
| 5 | g.69420244A>C | CA359924835 | MARVELD2 | c.859A>C (p.Asn287His) c.725+134A>C (n.725+134A>C) | |
| 5 | g.69420244A>G | CA359924836 | MARVELD2 | c.859A>G (p.Asn287Asp) c.725+134A>G (n.725+134A>G) | |
| 5 | g.69420244A>T | CA359924837 | MARVELD2 | c.859A>T (p.Asn287Tyr) c.725+134A>T (n.725+134A>T) | |
| 5 | g.69420245A>C | CA359924838 | MARVELD2 | c.860A>C (p.Asn287Thr) c.725+135A>C (n.725+135A>C) | |
| 5 | g.69420245A>G | CA359924839 | MARVELD2 | c.860A>G (p.Asn287Ser) c.725+135A>G (n.725+135A>G) | |
| 5 | g.69420245A>T | CA359924840 | MARVELD2 | c.860A>T (p.Asn287Ile) c.725+135A>T (n.725+135A>T) | gnomAD v4 |
| 5 | g.69420246T>A | CA359924841 | MARVELD2 | c.861T>A (p.Asn287Lys) c.725+136T>A (n.725+136T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420246T>C | CA445083405 | MARVELD2 | c.861T>C (p.Asn287=) c.725+136T>C (n.725+136T>C) | gnomAD v4 |
| 5 | g.69420246T>G | CA3294128 | MARVELD2 | c.861T>G (p.Asn287Lys) c.725+136T>G (n.725+136T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420246T= | CA1553917089 | MARVELD2 | c.861T= (p.Asn287=) c.725+136T= (n.725+136T=) | |
| 5 | g.69420247T>A | CA359924842 | MARVELD2 | c.862T>A (p.Trp288Arg) c.725+137T>A (n.725+137T>A) | |
| 5 | g.69420247T>C | CA359924843 | MARVELD2 | c.862T>C (p.Trp288Arg) c.725+137T>C (n.725+137T>C) | |
| 5 | g.69420247T>G | CA359924844 | MARVELD2 | c.862T>G (p.Trp288Gly) c.725+137T>G (n.725+137T>G) | |
| 5 | g.69420248G>A | CA359924845 | MARVELD2 | c.863G>A (p.Trp288Ter) c.725+138G>A (n.725+138G>A) | |
| 5 | g.69420248G>C | CA359924846 | MARVELD2 | c.863G>C (p.Trp288Ser) c.725+138G>C (n.725+138G>C) | |
| 5 | g.69420248G= | CA1553917093 | MARVELD2 | c.863G= (p.Trp288=) c.725+138G= (n.725+138G=) | |
| 5 | g.69420248G>T | CA3294129 | MARVELD2 | c.863G>T (p.Trp288Leu) c.725+138G>T (n.725+138G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420249G>A | CA359924847 | MARVELD2 | c.864G>A (p.Trp288Ter) c.725+139G>A (n.725+139G>A) | |
| 5 | g.69420249G>C | CA359924848 | MARVELD2 | c.864G>C (p.Trp288Cys) c.725+139G>C (n.725+139G>C) | |
| 5 | g.69420249G>T | CA359924849 | MARVELD2 | c.864G>T (p.Trp288Cys) c.725+139G>T (n.725+139G>T) | |
| 5 | g.69420250T>A | CA359924850 | MARVELD2 | c.865T>A (p.Trp289Arg) c.725+140T>A (n.725+140T>A) | |
| 5 | g.69420250T>C | CA3294130 | MARVELD2 | c.865T>C (p.Trp289Arg) c.725+140T>C (n.725+140T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420250T>G | CA359924851 | MARVELD2 | c.865T>G (p.Trp289Gly) c.725+140T>G (n.725+140T>G) | |
| 5 | g.69420250T= | CA1553917096 | MARVELD2 | c.865T= (p.Trp289=) c.725+140T= (n.725+140T=) | |
| 5 | g.69420251G>A | CA359924854 | MARVELD2 | c.866G>A (p.Trp289Ter) c.725+141G>A (n.725+141G>A) | ClinVar dbSNP |
| 5 | g.69420251G>C | CA359924853 | MARVELD2 | c.866G>C (p.Trp289Ser) c.725+141G>C (n.725+141G>C) | |
| 5 | g.69420251G= | CA1553917098 | MARVELD2 | c.866G= (p.Trp289=) c.725+141G= (n.725+141G=) | |
| 5 | g.69420251G>T | CA359924852 | MARVELD2 | c.866G>T (p.Trp289Leu) c.725+141G>T (n.725+141G>T) | |
| 5 | g.69420252G>A | CA359924857 | MARVELD2 | c.867G>A (p.Trp289Ter) c.725+142G>A (n.725+142G>A) | gnomAD v4 |
| 5 | g.69420252G>C | CA359924855 | MARVELD2 | c.867G>C (p.Trp289Cys) c.725+142G>C (n.725+142G>C) | |
| 5 | g.69420252G= | CA1553917102 | MARVELD2 | c.867G= (p.Trp289=) c.725+142G= (n.725+142G=) | |
| 5 | g.69420252G>T | CA359924856 | MARVELD2 | c.867G>T (p.Trp289Cys) c.725+142G>T (n.725+142G>T) | dbSNP |
| 5 | g.69420253C>A | CA359924858 | MARVELD2 | c.868C>A (p.Pro290Thr) c.725+143C>A (n.725+143C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420253C= | CA1553917105 | MARVELD2 | c.868C= (p.Pro290=) c.725+143C= (n.725+143C=) | |
| 5 | g.69420253C>G | CA359924859 | MARVELD2 | c.868C>G (p.Pro290Ala) c.725+143C>G (n.725+143C>G) | |
| 5 | g.69420253C>T | CA3294131 | MARVELD2 | c.868C>T (p.Pro290Ser) c.725+143C>T (n.725+143C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420254C>A | CA359924860 | MARVELD2 | c.869C>A (p.Pro290His) c.725+144C>A (n.725+144C>A) | |
| 5 | g.69420254C= | CA1553917109 | MARVELD2 | c.869C= (p.Pro290=) c.725+144C= (n.725+144C=) | |
| 5 | g.69420254C>G | CA359924861 | MARVELD2 | c.869C>G (p.Pro290Arg) c.725+144C>G (n.725+144C>G) | gnomAD v4 |
| 5 | g.69420254C>T | CA359924862 | MARVELD2 | c.869C>T (p.Pro290Leu) c.725+144C>T (n.725+144C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420255C>A | CA445083426 | MARVELD2 | c.870C>A (p.Pro290=) c.725+145C>A (n.725+145C>A) | |
| 5 | g.69420255C= | CA1553917112 | MARVELD2 | c.870C= (p.Pro290=) c.725+145C= (n.725+145C=) | |
| 5 | g.69420255C>G | CA445083429 | MARVELD2 | c.870C>G (p.Pro290=) c.725+145C>G (n.725+145C>G) | dbSNP |
| 5 | g.69420255C>T | CA445083427 | MARVELD2 | c.870C>T (p.Pro290=) c.725+145C>T (n.725+145C>T) | gnomAD v4 |
| 5 | g.69420256C>A | CA359924863 | MARVELD2 | c.871C>A (p.Leu291Ile) c.725+146C>A (n.725+146C>A) | |
| 5 | g.69420256C= | CA1553917114 | MARVELD2 | c.871C= (p.Leu291=) c.725+146C= (n.725+146C=) | |
| 5 | g.69420256C>G | CA359924864 | MARVELD2 | c.871C>G (p.Leu291Val) c.725+146C>G (n.725+146C>G) | dbSNP gnomAD v4 |
| 5 | g.69420256C>T | CA445083431 | MARVELD2 | c.871C>T (p.Leu291=) c.725+146C>T (n.725+146C>T) | |
| 5 | g.69420257T>A | CA359924865 | MARVELD2 | c.872T>A (p.Leu291Gln) c.725+147T>A (n.725+147T>A) | |
| 5 | g.69420257T>C | CA359924866 | MARVELD2 | c.872T>C (p.Leu291Pro) c.725+147T>C (n.725+147T>C) | |
| 5 | g.69420257T>G | CA359924867 | MARVELD2 | c.872T>G (p.Leu291Arg) c.725+147T>G (n.725+147T>G) | |
| 5 | g.69420258A>C | CA445083441 | MARVELD2 | c.873A>C (p.Leu291=) c.725+148A>C (n.725+148A>C) | |
| 5 | g.69420258A>G | CA445083443 | MARVELD2 | c.873A>G (p.Leu291=) c.725+148A>G (n.725+148A>G) | gnomAD v4 |
| 5 | g.69420258A>T | CA445083446 | MARVELD2 | c.873A>T (p.Leu291=) c.725+148A>T (n.725+148A>T) | |
| 5 | g.69420259A>C | CA359924870 | MARVELD2 | c.874A>C (p.Thr292Pro) c.725+149A>C (n.725+149A>C) | |
| 5 | g.69420259A>G | CA359924868 | MARVELD2 | c.874A>G (p.Thr292Ala) c.725+149A>G (n.725+149A>G) | |
| 5 | g.69420259A>T | CA359924869 | MARVELD2 | c.874A>T (p.Thr292Ser) c.725+149A>T (n.725+149A>T) | |
| 5 | g.69420260C>A | CA359924871 | MARVELD2 | c.875C>A (p.Thr292Asn) c.725+150C>A (n.725+150C>A) | |
| 5 | g.69420260C>G | CA359924872 | MARVELD2 | c.875C>G (p.Thr292Ser) c.725+150C>G (n.725+150C>G) | gnomAD v4 |
| 5 | g.69420260C>T | CA359924873 | MARVELD2 | c.875C>T (p.Thr292Ile) c.725+150C>T (n.725+150C>T) | |
| 5 | g.69420261T>A | CA445083451 | MARVELD2 | c.876T>A (p.Thr292=) c.725+151T>A (n.725+151T>A) | |
| 5 | g.69420261T>C | CA445083454 | MARVELD2 | c.876T>C (p.Thr292=) c.725+151T>C (n.725+151T>C) | |
| 5 | g.69420261T>G | CA445083455 | MARVELD2 | c.876T>G (p.Thr292=) c.725+151T>G (n.725+151T>G) | gnomAD v4 |
| 5 | g.69420262G>A | CA359924874 | MARVELD2 | c.877G>A (p.Glu293Lys) c.725+152G>A (n.725+152G>A) | |
| 5 | g.69420262G>C | CA359924875 | MARVELD2 | c.877G>C (p.Glu293Gln) c.725+152G>C (n.725+152G>C) | ClinVar dbSNP |
| 5 | g.69420262G= | CA1553917120 | MARVELD2 | c.877G= (p.Glu293=) c.725+152G= (n.725+152G=) | |
| 5 | g.69420262G>T | CA359924876 | MARVELD2 | c.877G>T (p.Glu293Ter) c.725+152G>T (n.725+152G>T) | |
| 5 | g.69420262_69420273delinsGAATTTGGAATT | CA1553917119 | MARVELD2 | c.877_888delinsGAATTTGGAATT (p.Glu293=) c.725+152_725+163delinsGAATTTGGAATT (n.725+152_725+163delinsGAATTTGGAATT) | |
| 5 | g.69420263A>C | CA359924877 | MARVELD2 | c.878A>C (p.Glu293Ala) c.725+153A>C (n.725+153A>C) | |
| 5 | g.69420263A>G | CA359924878 | MARVELD2 | c.878A>G (p.Glu293Gly) c.725+153A>G (n.725+153A>G) | gnomAD v4 |
| 5 | g.69420263A>T | CA359924879 | MARVELD2 | c.878A>T (p.Glu293Val) c.725+153A>T (n.725+153A>T) | |
| 5 | g.69420265_69420275del | CA3294132 | MARVELD2 | c.880_890del (p.Phe294ArgfsTer17) c.725+155_725+165del (n.725+155_725+165del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420264A>C | CA359924880 | MARVELD2 | c.879A>C (p.Glu293Asp) c.725+154A>C (n.725+154A>C) | |
| 5 | g.69420264A>G | CA445083464 | MARVELD2 | c.879A>G (p.Glu293=) c.725+154A>G (n.725+154A>G) | |
| 5 | g.69420264A>T | CA359924881 | MARVELD2 | c.879A>T (p.Glu293Asp) c.725+154A>T (n.725+154A>T) | |
| 5 | g.69420265T>A | CA359924883 | MARVELD2 | c.880T>A (p.Phe294Ile) c.725+155T>A (n.725+155T>A) | |
| 5 | g.69420265T>C | CA359924884 | MARVELD2 | c.880T>C (p.Phe294Leu) c.725+155T>C (n.725+155T>C) | |
| 5 | g.69420265T>G | CA359924882 | MARVELD2 | c.880T>G (p.Phe294Val) c.725+155T>G (n.725+155T>G) | |
| 5 | g.69420266T>A | CA359924885 | MARVELD2 | c.881T>A (p.Phe294Tyr) c.725+156T>A (n.725+156T>A) | |
| 5 | g.69420266T>C | CA359924887 | MARVELD2 | c.881T>C (p.Phe294Ser) c.725+156T>C (n.725+156T>C) | |
| 5 | g.69420266T>G | CA359924886 | MARVELD2 | c.881T>G (p.Phe294Cys) c.725+156T>G (n.725+156T>G) | |
| 5 | g.69420267T>A | CA359924888 | MARVELD2 | c.882T>A (p.Phe294Leu) c.725+157T>A (n.725+157T>A) | |
| 5 | g.69420267T>C | CA445083467 | MARVELD2 | c.882T>C (p.Phe294=) c.725+157T>C (n.725+157T>C) | |
| 5 | g.69420267T>G | CA359924889 | MARVELD2 | c.882T>G (p.Phe294Leu) c.725+157T>G (n.725+157T>G) | |
| 5 | g.69420268G>A | CA359924890 | MARVELD2 | c.883G>A (p.Gly295Arg) c.725+158G>A (n.725+158G>A) | dbSNP |
| 5 | g.69420268G>C | CA359924891 | MARVELD2 | c.883G>C (p.Gly295Arg) c.725+158G>C (n.725+158G>C) | |
| 5 | g.69420268G= | CA1553917137 | MARVELD2 | c.883G= (p.Gly295=) c.725+158G= (n.725+158G=) | |
| 5 | g.69420268G>T | CA359924892 | MARVELD2 | c.883G>T (p.Gly295Ter) c.725+158G>T (n.725+158G>T) | |
| 5 | g.69420269G>A | CA359924893 | MARVELD2 | c.884G>A (p.Gly295Glu) c.725+159G>A (n.725+159G>A) | |
| 5 | g.69420269G>C | CA359924894 | MARVELD2 | c.884G>C (p.Gly295Ala) c.725+159G>C (n.725+159G>C) | |
| 5 | g.69420269G>T | CA359924895 | MARVELD2 | c.884G>T (p.Gly295Val) c.725+159G>T (n.725+159G>T) | |
| 5 | g.69420270A>C | CA445083484 | MARVELD2 | c.885A>C (p.Gly295=) c.725+160A>C (n.725+160A>C) | |
| 5 | g.69420270A>G | CA445083485 | MARVELD2 | c.885A>G (p.Gly295=) c.725+160A>G (n.725+160A>G) | gnomAD v4 |
| 5 | g.69420270A>T | CA445083486 | MARVELD2 | c.885A>T (p.Gly295=) c.725+160A>T (n.725+160A>T) | |
| 5 | g.69420271A>C | CA359924896 | MARVELD2 | c.886A>C (p.Ile296Leu) c.725+161A>C (n.725+161A>C) | |
| 5 | g.69420271A>G | CA359924897 | MARVELD2 | c.886A>G (p.Ile296Val) c.725+161A>G (n.725+161A>G) | |
| 5 | g.69420271A>T | CA359924898 | MARVELD2 | c.886A>T (p.Ile296Phe) c.725+161A>T (n.725+161A>T) | |
| 5 | g.69420272T>A | CA359924899 | MARVELD2 | c.887T>A (p.Ile296Asn) c.725+162T>A (n.725+162T>A) | |
| 5 | g.69420272T>C | CA359924900 | MARVELD2 | c.887T>C (p.Ile296Thr) c.725+162T>C (n.725+162T>C) | |
| 5 | g.69420272T>G | CA3294133 | MARVELD2 | c.887T>G (p.Ile296Ser) c.725+162T>G (n.725+162T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420272T= | CA1553917140 | MARVELD2 | c.887T= (p.Ile296=) c.725+162T= (n.725+162T=) | |
| 5 | g.69420273T>A | CA445083492 | MARVELD2 | c.888T>A (p.Ile296=) c.725+163T>A (n.725+163T>A) | |
| 5 | g.69420273T>C | CA445083494 | MARVELD2 | c.888T>C (p.Ile296=) c.725+163T>C (n.725+163T>C) | gnomAD v4 |
| 5 | g.69420273T>G | CA359924901 | MARVELD2 | c.888T>G (p.Ile296Met) c.725+163T>G (n.725+163T>G) | dbSNP |
| 5 | g.69420273T= | CA1553917141 | MARVELD2 | c.888T= (p.Ile296=) c.725+163T= (n.725+163T=) | |
| 5 | g.69420274A>C | CA359924902 | MARVELD2 | c.889A>C (p.Asn297His) c.725+164A>C (n.725+164A>C) | |
| 5 | g.69420274A>G | CA359924903 | MARVELD2 | c.889A>G (p.Asn297Asp) c.725+164A>G (n.725+164A>G) | |
| 5 | g.69420274A>T | CA359924904 | MARVELD2 | c.889A>T (p.Asn297Tyr) c.725+164A>T (n.725+164A>T) | |
| 5 | g.69420275A>C | CA359924905 | MARVELD2 | c.890A>C (p.Asn297Thr) c.725+165A>C (n.725+165A>C) | |
| 5 | g.69420275A>G | CA359924906 | MARVELD2 | c.890A>G (p.Asn297Ser) c.725+165A>G (n.725+165A>G) | |
| 5 | g.69420275A>T | CA359924907 | MARVELD2 | c.890A>T (p.Asn297Ile) c.725+165A>T (n.725+165A>T) | |
| 5 | g.69420276C>A | CA359924908 | MARVELD2 | c.891C>A (p.Asn297Lys) c.725+166C>A (n.725+166C>A) | |
| 5 | g.69420276C= | CA1553917144 | MARVELD2 | c.891C= (p.Asn297=) c.725+166C= (n.725+166C=) | |
| 5 | g.69420276C>G | CA359924909 | MARVELD2 | c.891C>G (p.Asn297Lys) c.725+166C>G (n.725+166C>G) | |
| 5 | g.69420276C>T | CA3294134 | MARVELD2 | c.891C>T (p.Asn297=) c.725+166C>T (n.725+166C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420277G>A | CA359924910 | MARVELD2 | c.892G>A (p.Val298Ile) c.725+167G>A (n.725+167G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.69420277G>C | CA359924911 | MARVELD2 | c.892G>C (p.Val298Leu) c.725+167G>C (n.725+167G>C) | |
| 5 | g.69420277G= | CA1553917146 | MARVELD2 | c.892G= (p.Val298=) c.725+167G= (n.725+167G=) | |
| 5 | g.69420277G>T | CA359924912 | MARVELD2 | c.892G>T (p.Val298Phe) c.725+167G>T (n.725+167G>T) | |
| 5 | g.69420278T>A | CA359924914 | MARVELD2 | c.893T>A (p.Val298Asp) c.725+168T>A (n.725+168T>A) | |
| 5 | g.69420278T>C | CA359924915 | MARVELD2 | c.893T>C (p.Val298Ala) c.725+168T>C (n.725+168T>C) | |
| 5 | g.69420278T>G | CA359924913 | MARVELD2 | c.893T>G (p.Val298Gly) c.725+168T>G (n.725+168T>G) | |
| 5 | g.69420279T>A | CA445083507 | MARVELD2 | c.894T>A (p.Val298=) c.725+169T>A (n.725+169T>A) | |
| 5 | g.69420279T>C | CA445083508 | MARVELD2 | c.894T>C (p.Val298=) c.725+169T>C (n.725+169T>C) | |
| 5 | g.69420279T>G | CA445083509 | MARVELD2 | c.894T>G (p.Val298=) c.725+169T>G (n.725+169T>G) | |
| 5 | g.69420280G>A | CA359924916 | MARVELD2 | c.895G>A (p.Ala299Thr) c.725+170G>A (n.725+170G>A) | |
| 5 | g.69420280G>C | CA359924917 | MARVELD2 | c.895G>C (p.Ala299Pro) c.725+170G>C (n.725+170G>C) | gnomAD v4 |
| 5 | g.69420280G= | CA1553917150 | MARVELD2 | c.895G= (p.Ala299=) c.725+170G= (n.725+170G=) | |
| 5 | g.69420280G>T | CA359924918 | MARVELD2 | c.895G>T (p.Ala299Ser) c.725+170G>T (n.725+170G>T) | dbSNP gnomAD v4 |
| 5 | g.69420281C>A | CA359924919 | MARVELD2 | c.896C>A (p.Ala299Asp) c.725+171C>A (n.725+171C>A) | |
| 5 | g.69420281C= | CA1553917153 | MARVELD2 | c.896C= (p.Ala299=) c.725+171C= (n.725+171C=) | |
| 5 | g.69420281C>G | CA359924920 | MARVELD2 | c.896C>G (p.Ala299Gly) c.725+171C>G (n.725+171C>G) | |
| 5 | g.69420281C>T | CA359924921 | MARVELD2 | c.896C>T (p.Ala299Val) c.725+171C>T (n.725+171C>T) | dbSNP COSMIC |
| 5 | g.69420282C>A | CA445083519 | MARVELD2 | c.897C>A (p.Ala299=) c.725+172C>A (n.725+172C>A) | |
| 5 | g.69420282C= | CA1553917156 | MARVELD2 | c.897C= (p.Ala299=) c.725+172C= (n.725+172C=) | |
| 5 | g.69420282C>G | CA445083520 | MARVELD2 | c.897C>G (p.Ala299=) c.725+172C>G (n.725+172C>G) | dbSNP gnomAD v4 |
| 5 | g.69420282C>T | CA445083521 | MARVELD2 | c.897C>T (p.Ala299=) c.725+172C>T (n.725+172C>T) | |
| 5 | g.69420283T>A | CA182270 | MARVELD2 | c.898T>A (p.Leu300Met) c.725+173T>A (n.725+173T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69420283T>C | CA445083522 | MARVELD2 | c.898T>C (p.Leu300=) c.725+173T>C (n.725+173T>C) | gnomAD v4 |
| 5 | g.69420283T>G | CA359924922 | MARVELD2 | c.898T>G (p.Leu300Val) c.725+173T>G (n.725+173T>G) | |
| 5 | g.69420283T= | CA1553917159 | MARVELD2 | c.898T= (p.Leu300=) c.725+173T= (n.725+173T=) | |
| 5 | g.69420284T>A | CA359924923 | MARVELD2 | c.899T>A (p.Leu300Ter) c.726-175T>A (n.726-175T>A) | |
| 5 | g.69420284T>C | CA359924924 | MARVELD2 | c.899T>C (p.Leu300Ser) c.726-175T>C (n.726-175T>C) | |
| 5 | g.69420284T>G | CA359924925 | MARVELD2 | c.899T>G (p.Leu300Trp) c.726-175T>G (n.726-175T>G) | |
| 5 | g.69420285G>A | CA176718 | MARVELD2 | c.900G>A (p.Leu300=) c.726-174G>A (n.726-174G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420285G>C | CA359924927 | MARVELD2 | c.900G>C (p.Leu300Phe) c.726-174G>C (n.726-174G>C) | |
| 5 | g.69420285G= | CA1553917164 | MARVELD2 | c.900G= (p.Leu300=) c.726-174G= (n.726-174G=) | |
| 5 | g.69420285G>T | CA359924926 | MARVELD2 | c.900G>T (p.Leu300Phe) c.726-174G>T (n.726-174G>T) | gnomAD v4 |
| 5 | g.69420286T>A | CA359924928 | MARVELD2 | c.901T>A (p.Phe301Ile) c.726-173T>A (n.726-173T>A) | |
| 5 | g.69420286T>C | CA359924929 | MARVELD2 | c.901T>C (p.Phe301Leu) c.726-173T>C (n.726-173T>C) | gnomAD v4 |
| 5 | g.69420286T>G | CA359924930 | MARVELD2 | c.901T>G (p.Phe301Val) c.726-173T>G (n.726-173T>G) | |
| 5 | g.69420287T>A | CA359924931 | MARVELD2 | c.902T>A (p.Phe301Tyr) c.726-172T>A (n.726-172T>A) | |
| 5 | g.69420287T>C | CA359924932 | MARVELD2 | c.902T>C (p.Phe301Ser) c.726-172T>C (n.726-172T>C) | |
| 5 | g.69420287T>G | CA359924933 | MARVELD2 | c.902T>G (p.Phe301Cys) c.726-172T>G (n.726-172T>G) | gnomAD v4 |
| 5 | g.69420288T>A | CA359924934 | MARVELD2 | c.903T>A (p.Phe301Leu) c.726-171T>A (n.726-171T>A) | |
| 5 | g.69420288T>C | CA445083536 | MARVELD2 | c.903T>C (p.Phe301=) c.726-171T>C (n.726-171T>C) | |
| 5 | g.69420288T>G | CA359924935 | MARVELD2 | c.903T>G (p.Phe301Leu) c.726-171T>G (n.726-171T>G) | |
| 5 | g.69420289A>C | CA359924936 | MARVELD2 | c.904A>C (p.Ile302Leu) c.726-170A>C (n.726-170A>C) | |
| 5 | g.69420289A>G | CA359924937 | MARVELD2 | c.904A>G (p.Ile302Val) c.726-170A>G (n.726-170A>G) | |
| 5 | g.69420289A>T | CA359924938 | MARVELD2 | c.904A>T (p.Ile302Phe) c.726-170A>T (n.726-170A>T) | |
| 5 | g.69420290T>A | CA359924939 | MARVELD2 | c.905T>A (p.Ile302Asn) c.726-169T>A (n.726-169T>A) | |
| 5 | g.69420290T>C | CA359924940 | MARVELD2 | c.905T>C (p.Ile302Thr) c.726-169T>C (n.726-169T>C) | |
| 5 | g.69420290T>G | CA359924941 | MARVELD2 | c.905T>G (p.Ile302Ser) c.726-169T>G (n.726-169T>G) | |
| 5 | g.69420291T>A | CA445083540 | MARVELD2 | c.906T>A (p.Ile302=) c.726-168T>A (n.726-168T>A) | |
| 5 | g.69420291T>C | CA445083541 | MARVELD2 | c.906T>C (p.Ile302=) c.726-168T>C (n.726-168T>C) | |
| 5 | g.69420291T>G | CA359924942 | MARVELD2 | c.906T>G (p.Ile302Met) c.726-168T>G (n.726-168T>G) | gnomAD v4 |
| 5 | g.69420292T>A | CA359924944 | MARVELD2 | c.907T>A (p.Leu303Met) c.726-167T>A (n.726-167T>A) | |
| 5 | g.69420292T>C | CA445083547 | MARVELD2 | c.907T>C (p.Leu303=) c.726-167T>C (n.726-167T>C) | |
| 5 | g.69420292T>G | CA359924943 | MARVELD2 | c.907T>G (p.Leu303Val) c.726-167T>G (n.726-167T>G) | |
| 5 | g.69420293T>A | CA359924947 | MARVELD2 | c.908T>A (p.Leu303Ter) c.726-166T>A (n.726-166T>A) | |
| 5 | g.69420293T>C | CA359924945 | MARVELD2 | c.908T>C (p.Leu303Ser) c.726-166T>C (n.726-166T>C) | |
| 5 | g.69420293T>G | CA359924946 | MARVELD2 | c.908T>G (p.Leu303Trp) c.726-166T>G (n.726-166T>G) | |
| 5 | g.69420294G>A | CA445083553 | MARVELD2 | c.909G>A (p.Leu303=) c.726-165G>A (n.726-165G>A) | |
| 5 | g.69420294G>C | CA359924948 | MARVELD2 | c.909G>C (p.Leu303Phe) c.726-165G>C (n.726-165G>C) | gnomAD v4 |
| 5 | g.69420294G>T | CA359924949 | MARVELD2 | c.909G>T (p.Leu303Phe) c.726-165G>T (n.726-165G>T) | |
| 5 | g.69420295T>A | CA359924950 | MARVELD2 | c.910T>A (p.Tyr304Asn) c.726-164T>A (n.726-164T>A) | |
| 5 | g.69420295T>C | CA359924951 | MARVELD2 | c.910T>C (p.Tyr304His) c.726-164T>C (n.726-164T>C) | |
| 5 | g.69420295T>G | CA359924952 | MARVELD2 | c.910T>G (p.Tyr304Asp) c.726-164T>G (n.726-164T>G) | |
| 5 | g.69420296A= | CA1553917170 | MARVELD2 | c.911A= (p.Tyr304=) c.726-163A= (n.726-163A=) | |
| 5 | g.69420296A>C | CA3294135 | MARVELD2 | c.911A>C (p.Tyr304Ser) c.726-163A>C (n.726-163A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420296A>G | CA359924953 | MARVELD2 | c.911A>G (p.Tyr304Cys) c.726-163A>G (n.726-163A>G) | |
| 5 | g.69420296A>T | CA359924954 | MARVELD2 | c.911A>T (p.Tyr304Phe) c.726-163A>T (n.726-163A>T) | |
| 5 | g.69420297T>A | CA359924955 | MARVELD2 | c.912T>A (p.Tyr304Ter) c.726-162T>A (n.726-162T>A) | |
| 5 | g.69420297T>C | CA445083565 | MARVELD2 | c.912T>C (p.Tyr304=) c.726-162T>C (n.726-162T>C) | |
| 5 | g.69420297T>G | CA359924956 | MARVELD2 | c.912T>G (p.Tyr304Ter) c.726-162T>G (n.726-162T>G) | |
| 5 | g.69420298A= | CA1553917172 | MARVELD2 | c.913A= (p.Met305=) c.726-161A= (n.726-161A=) | |
| 5 | g.69420298A>C | CA359924959 | MARVELD2 | c.913A>C (p.Met305Leu) c.726-161A>C (n.726-161A>C) | |
| 5 | g.69420298A>G | CA359924957 | MARVELD2 | c.913A>G (p.Met305Val) c.726-161A>G (n.726-161A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420298A>T | CA359924958 | MARVELD2 | c.913A>T (p.Met305Leu) c.726-161A>T (n.726-161A>T) | |
| 5 | g.69420299T>A | CA359924960 | MARVELD2 | c.914T>A (p.Met305Lys) c.726-160T>A (n.726-160T>A) | |
| 5 | g.69420299T>C | CA359924961 | MARVELD2 | c.914T>C (p.Met305Thr) c.726-160T>C (n.726-160T>C) | |
| 5 | g.69420299T>G | CA359924962 | MARVELD2 | c.914T>G (p.Met305Arg) c.726-160T>G (n.726-160T>G) | |
| 5 | g.69420300G>A | CA359924963 | MARVELD2 | c.915G>A (p.Met305Ile) c.726-159G>A (n.726-159G>A) | |
| 5 | g.69420300G>C | CA359924964 | MARVELD2 | c.915G>C (p.Met305Ile) c.726-159G>C (n.726-159G>C) | |
| 5 | g.69420300G>T | CA359924965 | MARVELD2 | c.915G>T (p.Met305Ile) c.726-159G>T (n.726-159G>T) | |
| 5 | g.69420301G>A | CA359924966 | MARVELD2 | c.916G>A (p.Ala306Thr) c.726-158G>A (n.726-158G>A) | dbSNP |
| 5 | g.69420301G>C | CA359924967 | MARVELD2 | c.916G>C (p.Ala306Pro) c.726-158G>C (n.726-158G>C) | |
| 5 | g.69420301G= | CA1553917175 | MARVELD2 | c.916G= (p.Ala306=) c.726-158G= (n.726-158G=) | |
| 5 | g.69420301G>T | CA359924968 | MARVELD2 | c.916G>T (p.Ala306Ser) c.726-158G>T (n.726-158G>T) | |
| 5 | g.69420302C>A | CA359924969 | MARVELD2 | c.917C>A (p.Ala306Asp) c.726-157C>A (n.726-157C>A) | |
| 5 | g.69420302C>G | CA359924970 | MARVELD2 | c.917C>G (p.Ala306Gly) c.726-157C>G (n.726-157C>G) | |
| 5 | g.69420302C>T | CA359924971 | MARVELD2 | c.917C>T (p.Ala306Val) c.726-157C>T (n.726-157C>T) | |
| 5 | g.69420303C>A | CA445083579 | MARVELD2 | c.918C>A (p.Ala306=) c.726-156C>A (n.726-156C>A) | |
| 5 | g.69420303C= | CA1553917177 | MARVELD2 | c.918C= (p.Ala306=) c.726-156C= (n.726-156C=) | |
| 5 | g.69420303C>G | CA445083580 | MARVELD2 | c.918C>G (p.Ala306=) c.726-156C>G (n.726-156C>G) | |
| 5 | g.69420303C>T | CA3294136 | MARVELD2 | c.918C>T (p.Ala306=) c.726-156C>T (n.726-156C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69420304G>A | CA3294137 | MARVELD2 | c.919G>A (p.Ala307Thr) c.726-155G>A (n.726-155G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420304G>C | CA359924972 | MARVELD2 | c.919G>C (p.Ala307Pro) c.726-155G>C (n.726-155G>C) | |
| 5 | g.69420304G= | CA1553917183 | MARVELD2 | c.919G= (p.Ala307=) c.726-155G= (n.726-155G=) | |
| 5 | g.69420304G>T | CA3294138 | MARVELD2 | c.919G>T (p.Ala307Ser) c.726-155G>T (n.726-155G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420305C>A | CA359924973 | MARVELD2 | c.920C>A (p.Ala307Glu) c.726-154C>A (n.726-154C>A) | |
| 5 | g.69420305C>G | CA359924974 | MARVELD2 | c.920C>G (p.Ala307Gly) c.726-154C>G (n.726-154C>G) | |
| 5 | g.69420305C>T | CA359924975 | MARVELD2 | c.920C>T (p.Ala307Val) c.726-154C>T (n.726-154C>T) | |
| 5 | g.69420306A>C | CA445083587 | MARVELD2 | c.921A>C (p.Ala307=) c.726-153A>C (n.726-153A>C) | |
| 5 | g.69420306A>G | CA445083592 | MARVELD2 | c.921A>G (p.Ala307=) c.726-153A>G (n.726-153A>G) | |
| 5 | g.69420306A>T | CA445083591 | MARVELD2 | c.921A>T (p.Ala307=) c.726-153A>T (n.726-153A>T) | |
| 5 | g.69420307G>A | CA359924976 | MARVELD2 | c.922G>A (p.Ala308Thr) c.726-152G>A (n.726-152G>A) | |
| 5 | g.69420307G>C | CA3294139 | MARVELD2 | c.922G>C (p.Ala308Pro) c.726-152G>C (n.726-152G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420307G= | CA1553917188 | MARVELD2 | c.922G= (p.Ala308=) c.726-152G= (n.726-152G=) | |
| 5 | g.69420307G>T | CA359924977 | MARVELD2 | c.922G>T (p.Ala308Ser) c.726-152G>T (n.726-152G>T) | |
| 5 | g.69420308C>A | CA359924978 | MARVELD2 | c.923C>A (p.Ala308Asp) c.726-151C>A (n.726-151C>A) | |
| 5 | g.69420308C= | CA1553917191 | MARVELD2 | c.923C= (p.Ala308=) c.726-151C= (n.726-151C=) | |
| 5 | g.69420308C>G | CA3294140 | MARVELD2 | c.923C>G (p.Ala308Gly) c.726-151C>G (n.726-151C>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.69420308C>T | CA359924979 | MARVELD2 | c.923C>T (p.Ala308Val) c.726-151C>T (n.726-151C>T) | dbSNP gnomAD v4 |