| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 5 | g.69420309C>A | CA445083595 | MARVELD2 | c.924C>A (p.Ala308=) c.726-150C>A (n.726-150C>A) | |
| 5 | g.69420309C= | CA1553917195 | MARVELD2 | c.924C= (p.Ala308=) c.726-150C= (n.726-150C=) | |
| 5 | g.69420309C>G | CA3294141 | MARVELD2 | c.924C>G (p.Ala308=) c.726-150C>G (n.726-150C>G) | dbSNP ExAC |
| 5 | g.69420309C>T | CA445083601 | MARVELD2 | c.924C>T (p.Ala308=) c.726-150C>T (n.726-150C>T) | |
| 5 | g.69420310A= | CA1553917197 | MARVELD2 | c.925A= (p.Ile309=) c.726-149A= (n.726-149A=) | |
| 5 | g.69420310A>C | CA359924982 | MARVELD2 | c.925A>C (p.Ile309Leu) c.726-149A>C (n.726-149A>C) | |
| 5 | g.69420310A>G | CA359924981 | MARVELD2 | c.925A>G (p.Ile309Val) c.726-149A>G (n.726-149A>G) | dbSNP gnomAD v4 |
| 5 | g.69420310A>T | CA359924980 | MARVELD2 | c.925A>T (p.Ile309Leu) c.726-149A>T (n.726-149A>T) | |
| 5 | g.69420311T>A | CA359924983 | MARVELD2 | c.926T>A (p.Ile309Lys) c.726-148T>A (n.726-148T>A) | |
| 5 | g.69420311T>C | CA359924984 | MARVELD2 | c.926T>C (p.Ile309Thr) c.726-148T>C (n.726-148T>C) | |
| 5 | g.69420311T>G | CA359924985 | MARVELD2 | c.926T>G (p.Ile309Arg) c.726-148T>G (n.726-148T>G) | |
| 5 | g.69420312A= | CA1553917199 | MARVELD2 | c.927A= (p.Ile309=) c.726-147A= (n.726-147A=) | |
| 5 | g.69420312A>C | CA445083607 | MARVELD2 | c.927A>C (p.Ile309=) c.726-147A>C (n.726-147A>C) | dbSNP |
| 5 | g.69420312A>G | CA359924986 | MARVELD2 | c.927A>G (p.Ile309Met) c.726-147A>G (n.726-147A>G) | |
| 5 | g.69420312A>T | CA445083611 | MARVELD2 | c.927A>T (p.Ile309=) c.726-147A>T (n.726-147A>T) | |
| 5 | g.69420313G>A | CA359924987 | MARVELD2 | c.928G>A (p.Val310Ile) c.726-146G>A (n.726-146G>A) | |
| 5 | g.69420313G>C | CA359924988 | MARVELD2 | c.928G>C (p.Val310Leu) c.726-146G>C (n.726-146G>C) | |
| 5 | g.69420313G>T | CA359924989 | MARVELD2 | c.928G>T (p.Val310Phe) c.726-146G>T (n.726-146G>T) | |
| 5 | g.69420314T>A | CA359924990 | MARVELD2 | c.929T>A (p.Val310Asp) c.726-145T>A (n.726-145T>A) | |
| 5 | g.69420314T>C | CA359924991 | MARVELD2 | c.929T>C (p.Val310Ala) c.726-145T>C (n.726-145T>C) | gnomAD v4 |
| 5 | g.69420314T>G | CA359924992 | MARVELD2 | c.929T>G (p.Val310Gly) c.726-145T>G (n.726-145T>G) | |
| 5 | g.69420315C>A | CA445083619 | MARVELD2 | c.930C>A (p.Val310=) c.726-144C>A (n.726-144C>A) | |
| 5 | g.69420315C>G | CA445083620 | MARVELD2 | c.930C>G (p.Val310=) c.726-144C>G (n.726-144C>G) | gnomAD v4 |
| 5 | g.69420315C>T | CA445083623 | MARVELD2 | c.930C>T (p.Val310=) c.726-144C>T (n.726-144C>T) | gnomAD v4 |
| 5 | g.69420316T>A | CA359924993 | MARVELD2 | c.931T>A (p.Tyr311Asn) c.726-143T>A (n.726-143T>A) | |
| 5 | g.69420316T>C | CA359924994 | MARVELD2 | c.931T>C (p.Tyr311His) c.726-143T>C (n.726-143T>C) | |
| 5 | g.69420316T>G | CA359924995 | MARVELD2 | c.931T>G (p.Tyr311Asp) c.726-143T>G (n.726-143T>G) | |
| 5 | g.69420317A= | CA1553917202 | MARVELD2 | c.932A= (p.Tyr311=) c.726-142A= (n.726-142A=) | |
| 5 | g.69420317A>C | CA359924997 | MARVELD2 | c.932A>C (p.Tyr311Ser) c.726-142A>C (n.726-142A>C) | |
| 5 | g.69420317A>G | CA119992341 | MARVELD2 | c.932A>G (p.Tyr311Cys) c.726-142A>G (n.726-142A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420317A>T | CA359924996 | MARVELD2 | c.932A>T (p.Tyr311Phe) c.726-142A>T (n.726-142A>T) | |
| 5 | g.69420318T>A | CA359924999 | MARVELD2 | c.933T>A (p.Tyr311Ter) c.726-141T>A (n.726-141T>A) | |
| 5 | g.69420318T>C | CA445083624 | MARVELD2 | c.933T>C (p.Tyr311=) c.726-141T>C (n.726-141T>C) | ClinVar dbSNP |
| 5 | g.69420318T>G | CA359924998 | MARVELD2 | c.933T>G (p.Tyr311Ter) c.726-141T>G (n.726-141T>G) | |
| 5 | g.69420318T= | CA1553917205 | MARVELD2 | c.933T= (p.Tyr311=) c.726-141T= (n.726-141T=) | |
| 5 | g.69420320_69420321del | CA645551529 | MARVELD2 | c.935_936del (p.Val312GlufsTer2) c.726-139_726-138del (n.726-139_726-138del) | COSMIC |
| 5 | g.69420319G>A | CA359925001 | MARVELD2 | c.934G>A (p.Val312Met) c.726-140G>A (n.726-140G>A) | |
| 5 | g.69420319G>C | CA359925000 | MARVELD2 | c.934G>C (p.Val312Leu) c.726-140G>C (n.726-140G>C) | |
| 5 | g.69420319G>T | CA359925002 | MARVELD2 | c.934G>T (p.Val312Leu) c.726-140G>T (n.726-140G>T) | |
| 5 | g.69420320T>A | CA359925003 | MARVELD2 | c.935T>A (p.Val312Glu) c.726-139T>A (n.726-139T>A) | |
| 5 | g.69420320T>C | CA359925004 | MARVELD2 | c.935T>C (p.Val312Ala) c.726-139T>C (n.726-139T>C) | |
| 5 | g.69420320T>G | CA359925005 | MARVELD2 | c.935T>G (p.Val312Gly) c.726-139T>G (n.726-139T>G) | |
| 5 | g.69420321G>A | CA445083635 | MARVELD2 | c.936G>A (p.Val312=) c.726-138G>A (n.726-138G>A) | |
| 5 | g.69420321G>C | CA445083637 | MARVELD2 | c.936G>C (p.Val312=) c.726-138G>C (n.726-138G>C) | |
| 5 | g.69420321G= | CA1553917209 | MARVELD2 | c.936G= (p.Val312=) c.726-138G= (n.726-138G=) | |
| 5 | g.69420321G>T | CA445083638 | MARVELD2 | c.936G>T (p.Val312=) c.726-138G>T (n.726-138G>T) | dbSNP gnomAD v4 |
| 5 | g.69420322A= | CA1553917211 | MARVELD2 | c.937A= (p.Asn313=) c.726-137A= (n.726-137A=) | |
| 5 | g.69420322A>C | CA359925006 | MARVELD2 | c.937A>C (p.Asn313His) c.726-137A>C (n.726-137A>C) | |
| 5 | g.69420322A>G | CA3294142 | MARVELD2 | c.937A>G (p.Asn313Asp) c.726-137A>G (n.726-137A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.69420322A>T | CA359925007 | MARVELD2 | c.937A>T (p.Asn313Tyr) c.726-137A>T (n.726-137A>T) | |
| 5 | g.69420323A= | CA1553917212 | MARVELD2 | c.938A= (p.Asn313=) c.726-136A= (n.726-136A=) | |
| 5 | g.69420323A>C | CA359925008 | MARVELD2 | c.938A>C (p.Asn313Thr) c.726-136A>C (n.726-136A>C) | |
| 5 | g.69420323A>G | CA119992353 | MARVELD2 | c.938A>G (p.Asn313Ser) c.726-136A>G (n.726-136A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420323A>T | CA359925009 | MARVELD2 | c.938A>T (p.Asn313Ile) c.726-136A>T (n.726-136A>T) |