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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.69420499C>A | CA3294170 | MARVELD2 | c.1114C>A (p.Arg372=) c.766C>A (p.Arg256=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420499C= | CA1553917458 | MARVELD2 | c.1114C= (p.Arg372=) c.766C= (p.Arg256=) | |
| 5 | g.69420499C>G | CA3294168 | MARVELD2 | c.1114C>G (p.Arg372Gly) c.766C>G (p.Arg256Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420499C>T | CA3294169 | MARVELD2 | c.1114C>T (p.Arg372Trp) c.766C>T (p.Arg256Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69420500G>A | CA3294171 | MARVELD2 | c.1115G>A (p.Arg372Gln) c.767G>A (p.Arg256Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420500G>C | CA359925693 | MARVELD2 | c.1115G>C (p.Arg372Pro) c.767G>C (p.Arg256Pro) | |
| 5 | g.69420500G= | CA1553917464 | MARVELD2 | c.1115G= (p.Arg372=) c.767G= (p.Arg256=) | |
| 5 | g.69420500G>T | CA359925694 | MARVELD2 | c.1115G>T (p.Arg372Leu) c.767G>T (p.Arg256Leu) | |
| 5 | g.69420501G>A | CA444790640 | MARVELD2 | c.1116G>A (p.Arg372=) c.768G>A (p.Arg256=) | |
| 5 | g.69420501G>C | CA444790641 | MARVELD2 | c.1116G>C (p.Arg372=) c.768G>C (p.Arg256=) | |
| 5 | g.69420501G>T | CA444790642 | MARVELD2 | c.1116G>T (p.Arg372=) c.768G>T (p.Arg256=) | |
| 5 | g.69420502A= | CA1553917468 | MARVELD2 | c.1117A= (p.Arg373=) c.769A= (p.Arg257=) | |
| 5 | g.69420502A>C | CA444790643 | MARVELD2 | c.1117A>C (p.Arg373=) c.769A>C (p.Arg257=) | |
| 5 | g.69420502A>G | CA359925696 | MARVELD2 | c.1117A>G (p.Arg373Gly) c.769A>G (p.Arg257Gly) | |
| 5 | g.69420502A>T | CA359925697 | MARVELD2 | c.1117A>T (p.Arg373Ter) c.769A>T (p.Arg257Ter) | dbSNP |
| 5 | g.69420503G>A | CA359925703 | MARVELD2 | c.1118G>A (p.Arg373Lys) c.770G>A (p.Arg257Lys) | |
| 5 | g.69420503G>C | CA359925702 | MARVELD2 | c.1118G>C (p.Arg373Thr) c.770G>C (p.Arg257Thr) | |
| 5 | g.69420503G>T | CA359925700 | MARVELD2 | c.1118G>T (p.Arg373Ile) c.770G>T (p.Arg257Ile) | gnomAD v4 |
| 5 | g.69420504A>C | CA359925705 | MARVELD2 | c.1119A>C (p.Arg373Ser) c.771A>C (p.Arg257Ser) | |
| 5 | g.69420504A>G | CA444790645 | MARVELD2 | c.1119A>G (p.Arg373=) c.771A>G (p.Arg257=) | |
| 5 | g.69420504A>T | CA359925707 | MARVELD2 | c.1119A>T (p.Arg373Ser) c.771A>T (p.Arg257Ser) | |
| 5 | g.69420505C>A | CA359925709 | MARVELD2 | c.1120C>A (p.His374Asn) c.772C>A (p.His258Asn) | |
| 5 | g.69420505C>G | CA359925711 | MARVELD2 | c.1120C>G (p.His374Asp) c.772C>G (p.His258Asp) | |
| 5 | g.69420505C>T | CA359925713 | MARVELD2 | c.1120C>T (p.His374Tyr) c.772C>T (p.His258Tyr) | |
| 5 | g.69420506A= | CA1553917470 | MARVELD2 | c.1121A= (p.His374=) c.773A= (p.His258=) | |
| 5 | g.69420506A>C | CA359925715 | MARVELD2 | c.1121A>C (p.His374Pro) c.773A>C (p.His258Pro) | |
| 5 | g.69420506A>G | CA359925717 | MARVELD2 | c.1121A>G (p.His374Arg) c.773A>G (p.His258Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420506A>T | CA359925719 | MARVELD2 | c.1121A>T (p.His374Leu) c.773A>T (p.His258Leu) | gnomAD v4 |
| 5 | g.69420507_69420508del | CA2580073391 | MARVELD2 | c.1122_1123del (p.His374GlnfsTer11) c.774_775del (p.His258GlnfsTer11) c.1122_1123del (p.His374GlnfsTer10) | ClinVar |
| 5 | g.69420507T>A | CA359925721 | MARVELD2 | c.1122T>A (p.His374Gln) c.774T>A (p.His258Gln) | |
| 5 | g.69420507T>C | CA3294172 | MARVELD2 | c.1122T>C (p.His374=) c.774T>C (p.His258=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420507T>G | CA359925724 | MARVELD2 | c.1122T>G (p.His374Gln) c.774T>G (p.His258Gln) | gnomAD v4 |
| 5 | g.69420507T= | CA1553917472 | MARVELD2 | c.1122T= (p.His374=) c.774T= (p.His258=) | |
| 5 | g.69420507dup | CA2573052524 | MARVELD2 | c.1122dup (p.Arg375Ter) c.774dup (p.Arg259Ter) | ClinVar dbSNP |
| 5 | g.69420508A= | CA1553917476 | MARVELD2 | c.1123A= (p.Arg375=) c.775A= (p.Arg259=) | |
| 5 | g.69420508A>C | CA444790648 | MARVELD2 | c.1123A>C (p.Arg375=) c.775A>C (p.Arg259=) | |
| 5 | g.69420508A>G | CA359925726 | MARVELD2 | c.1123A>G (p.Arg375Gly) c.775A>G (p.Arg259Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420508A>T | CA359925727 | MARVELD2 | c.1123A>T (p.Arg375Ter) c.775A>T (p.Arg259Ter) | |
| 5 | g.69420509G>A | CA359925730 | MARVELD2 | c.1124G>A (p.Arg375Lys) c.776G>A (p.Arg259Lys) | |
| 5 | g.69420509G>C | CA359925732 | MARVELD2 | c.1124G>C (p.Arg375Thr) c.776G>C (p.Arg259Thr) | gnomAD v4 |
| 5 | g.69420509G>T | CA359925728 | MARVELD2 | c.1124G>T (p.Arg375Ile) c.776G>T (p.Arg259Ile) | gnomAD v4 |
| 5 | g.69420510A= | CA1553917478 | MARVELD2 | c.1125A= (p.Arg375=) c.777A= (p.Arg259=) | |
| 5 | g.69420510A>C | CA3294173 | MARVELD2 | c.1125A>C (p.Arg375Ser) c.777A>C (p.Arg259Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420510A>G | CA444790650 | MARVELD2 | c.1125A>G (p.Arg375=) c.777A>G (p.Arg259=) | |
| 5 | g.69420510A>T | CA359925734 | MARVELD2 | c.1125A>T (p.Arg375Ser) c.777A>T (p.Arg259Ser) | |
| 5 | g.69420511G>A | CA359925736 | MARVELD2 | c.1126G>A (p.Glu376Lys) c.778G>A (p.Glu260Lys) | |
| 5 | g.69420511G>C | CA359925738 | MARVELD2 | c.1126G>C (p.Glu376Gln) c.778G>C (p.Glu260Gln) | |
| 5 | g.69420511G>T | CA359925740 | MARVELD2 | c.1126G>T (p.Glu376Ter) c.778G>T (p.Glu260Ter) | gnomAD v4 |
| 5 | g.69420512A>C | CA359925742 | MARVELD2 | c.1127A>C (p.Glu376Ala) c.779A>C (p.Glu260Ala) | |
| 5 | g.69420512A>G | CA359925744 | MARVELD2 | c.1127A>G (p.Glu376Gly) c.779A>G (p.Glu260Gly) | |
| 5 | g.69420512A>T | CA359925745 | MARVELD2 | c.1127A>T (p.Glu376Val) c.779A>T (p.Glu260Val) | |
| 5 | g.69420513A= | CA1553917481 | MARVELD2 | c.1128A= (p.Glu376=) c.780A= (p.Glu260=) | |
| 5 | g.69420513A>C | CA359925747 | MARVELD2 | c.1128A>C (p.Glu376Asp) c.780A>C (p.Glu260Asp) | |
| 5 | g.69420513A>G | CA119992601 | MARVELD2 | c.1128A>G (p.Glu376=) c.780A>G (p.Glu260=) | dbSNP gnomAD v4 |
| 5 | g.69420513A>T | CA359925749 | MARVELD2 | c.1128A>T (p.Glu376Asp) c.780A>T (p.Glu260Asp) | |
| 5 | g.69420514T>A | CA359925751 | MARVELD2 | c.1129T>A (p.Tyr377Asn) c.781T>A (p.Tyr261Asn) | |
| 5 | g.69420514T>C | CA359925752 | MARVELD2 | c.1129T>C (p.Tyr377His) c.781T>C (p.Tyr261His) | |
| 5 | g.69420514T>G | CA359925754 | MARVELD2 | c.1129T>G (p.Tyr377Asp) c.781T>G (p.Tyr261Asp) | |
| 5 | g.69420515A= | CA1553917484 | MARVELD2 | c.1130A= (p.Tyr377=) c.782A= (p.Tyr261=) | |
| 5 | g.69420515A>C | CA359925759 | MARVELD2 | c.1130A>C (p.Tyr377Ser) c.782A>C (p.Tyr261Ser) | |
| 5 | g.69420515A>G | CA119992624 | MARVELD2 | c.1130A>G (p.Tyr377Cys) c.782A>G (p.Tyr261Cys) | dbSNP |
| 5 | g.69420515A>T | CA359925757 | MARVELD2 | c.1130A>T (p.Tyr377Phe) c.782A>T (p.Tyr261Phe) | |
| 5 | g.69420516T>A | CA359925761 | MARVELD2 | c.1131T>A (p.Tyr377Ter) c.783T>A (p.Tyr261Ter) | |
| 5 | g.69420516T>C | CA444790654 | MARVELD2 | c.1131T>C (p.Tyr377=) c.783T>C (p.Tyr261=) | |
| 5 | g.69420516T>G | CA359925762 | MARVELD2 | c.1131T>G (p.Tyr377Ter) c.783T>G (p.Tyr261Ter) | |
| 5 | g.69420517A>C | CA359925764 | MARVELD2 | c.1132A>C (p.Met378Leu) c.784A>C (p.Met262Leu) | |
| 5 | g.69420517A>G | CA359925766 | MARVELD2 | c.1132A>G (p.Met378Val) c.784A>G (p.Met262Val) | gnomAD v4 |
| 5 | g.69420517A>T | CA359925768 | MARVELD2 | c.1132A>T (p.Met378Leu) c.784A>T (p.Met262Leu) | |
| 5 | g.69420518T>A | CA359925769 | MARVELD2 | c.1133T>A (p.Met378Lys) c.785T>A (p.Met262Lys) | |
| 5 | g.69420518T>C | CA3294174 | MARVELD2 | c.1133T>C (p.Met378Thr) c.785T>C (p.Met262Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420518T>G | CA359925770 | MARVELD2 | c.1133T>G (p.Met378Arg) c.785T>G (p.Met262Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420518T= | CA1553917488 | MARVELD2 | c.1133T= (p.Met378=) c.785T= (p.Met262=) | |
| 5 | g.69420518_69420519delinsTG | CA1553917490 | MARVELD2 | c.1133_1134delinsTG (p.Met378=) c.785_786delinsTG (p.Met262=) | |
| 5 | g.69420519G>A | CA3294175 | MARVELD2 | c.1134G>A (p.Met378Ile) c.786G>A (p.Met262Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420519G>C | CA359925774 | MARVELD2 | c.1134G>C (p.Met378Ile) c.786G>C (p.Met262Ile) | |
| 5 | g.69420519G= | CA1553917494 | MARVELD2 | c.1134G= (p.Met378=) c.786G= (p.Met262=) | |
| 5 | g.69420519G>T | CA359925776 | MARVELD2 | c.1134G>T (p.Met378Ile) c.786G>T (p.Met262Ile) | gnomAD v4 |
| 5 | g.69420520del | CA1553917492 | MARVELD2 | c.1135del (p.Glu379AsnfsTer5) c.787del (p.Glu263AsnfsTer5) c.1135del (p.Glu379AsnfsTer24) | dbSNP |
| 5 | g.69420520G>A | CA359925781 | MARVELD2 | c.1135G>A (p.Glu379Lys) c.787G>A (p.Glu263Lys) | |
| 5 | g.69420520G>C | CA359925780 | MARVELD2 | c.1135G>C (p.Glu379Gln) c.787G>C (p.Glu263Gln) | |
| 5 | g.69420520G>T | CA359925778 | MARVELD2 | c.1135G>T (p.Glu379Ter) c.787G>T (p.Glu263Ter) | gnomAD v4 |
| 5 | g.69420520_69420523delinsGAAC | CA1553917496 | MARVELD2 | c.1135_1138delinsGAAC (p.Glu379=) c.787_790delinsGAAC (p.Glu263=) | |
| 5 | g.69420521A>C | CA359925783 | MARVELD2 | c.1136A>C (p.Glu379Ala) c.788A>C (p.Glu263Ala) | |
| 5 | g.69420521A>G | CA359925784 | MARVELD2 | c.1136A>G (p.Glu379Gly) c.788A>G (p.Glu263Gly) | |
| 5 | g.69420521A>T | CA359925786 | MARVELD2 | c.1136A>T (p.Glu379Val) c.788A>T (p.Glu263Val) | |
| 5 | g.69420525_69420527del | CA1553917498 | MARVELD2 | c.1140_1142del (p.Gln381del) c.792_794del (p.Gln265del) | dbSNP |
| 5 | g.69420522A>C | CA359925788 | MARVELD2 | c.1137A>C (p.Glu379Asp) c.789A>C (p.Glu263Asp) | |
| 5 | g.69420522A>G | CA444790658 | MARVELD2 | c.1137A>G (p.Glu379=) c.789A>G (p.Glu263=) | |
| 5 | g.69420522A>T | CA359925790 | MARVELD2 | c.1137A>T (p.Glu379Asp) c.789A>T (p.Glu263Asp) | |
| 5 | g.69420523C>A | CA359925792 | MARVELD2 | c.1138C>A (p.Gln380Lys) c.790C>A (p.Gln264Lys) | |
| 5 | g.69420523C= | CA1553917502 | MARVELD2 | c.1138C= (p.Gln380=) c.790C= (p.Gln264=) | |
| 5 | g.69420523C>G | CA359925794 | MARVELD2 | c.1138C>G (p.Gln380Glu) c.790C>G (p.Gln264Glu) | |
| 5 | g.69420523C>T | CA359925795 | MARVELD2 | c.1138C>T (p.Gln380Ter) c.790C>T (p.Gln264Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.69420524A>C | CA359925798 | MARVELD2 | c.1139A>C (p.Gln380Pro) c.791A>C (p.Gln264Pro) | |
| 5 | g.69420524A>G | CA359925799 | MARVELD2 | c.1139A>G (p.Gln380Arg) c.791A>G (p.Gln264Arg) | gnomAD v4 |
| 5 | g.69420524A>T | CA359925800 | MARVELD2 | c.1139A>T (p.Gln380Leu) c.791A>T (p.Gln264Leu) | |
| 5 | g.69420525A>C | CA359925802 | MARVELD2 | c.1140A>C (p.Gln380His) c.792A>C (p.Gln264His) | |
| 5 | g.69420525A>G | CA444790662 | MARVELD2 | c.1140A>G (p.Gln380=) c.792A>G (p.Gln264=) | |
| 5 | g.69420525A>T | CA359925804 | MARVELD2 | c.1140A>T (p.Gln380His) c.792A>T (p.Gln264His) | |
| 5 | g.69420526C>A | CA359925809 | MARVELD2 | c.1141C>A (p.Gln381Lys) c.793C>A (p.Gln265Lys) | gnomAD v4 |
| 5 | g.69420526C= | CA1553917506 | MARVELD2 | c.1141C= (p.Gln381=) c.793C= (p.Gln265=) | |
| 5 | g.69420526C>G | CA359925806 | MARVELD2 | c.1141C>G (p.Gln381Glu) c.793C>G (p.Gln265Glu) | gnomAD v4 |
| 5 | g.69420526C>T | CA359925808 | MARVELD2 | c.1141C>T (p.Gln381Ter) c.793C>T (p.Gln265Ter) | dbSNP |
| 5 | g.69420527A= | CA1553917510 | MARVELD2 | c.1142A= (p.Gln381=) c.794A= (p.Gln265=) | |
| 5 | g.69420527A>C | CA359925810 | MARVELD2 | c.1142A>C (p.Gln381Pro) c.794A>C (p.Gln265Pro) | dbSNP |
| 5 | g.69420527A>G | CA3294176 | MARVELD2 | c.1142A>G (p.Gln381Arg) c.794A>G (p.Gln265Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420527A>T | CA359925811 | MARVELD2 | c.1142A>T (p.Gln381Leu) c.794A>T (p.Gln265Leu) | |
| 5 | g.69420528G>A | CA444790663 | MARVELD2 | c.1143G>A (p.Gln381=) c.795G>A (p.Gln265=) | |
| 5 | g.69420528G>C | CA359925812 | MARVELD2 | c.1143G>C (p.Gln381His) c.795G>C (p.Gln265His) | |
| 5 | g.69420528G>T | CA359925813 | MARVELD2 | c.1143G>T (p.Gln381His) c.795G>T (p.Gln265His) | gnomAD v4 |
| 5 | g.69420529G>A | CA359925814 | MARVELD2 | c.1144G>A (p.Glu382Lys) c.796G>A (p.Glu266Lys) | |
| 5 | g.69420529G>C | CA359925815 | MARVELD2 | c.1144G>C (p.Glu382Gln) c.796G>C (p.Glu266Gln) | |
| 5 | g.69420529G>T | CA359925816 | MARVELD2 | c.1144G>T (p.Glu382Ter) c.796G>T (p.Glu266Ter) | gnomAD v4 |
| 5 | g.69420530A>C | CA359925817 | MARVELD2 | c.1145A>C (p.Glu382Ala) c.797A>C (p.Glu266Ala) | |
| 5 | g.69420530A>G | CA359925818 | MARVELD2 | c.1145A>G (p.Glu382Gly) c.797A>G (p.Glu266Gly) | |
| 5 | g.69420530A>T | CA359925819 | MARVELD2 | c.1145A>T (p.Glu382Val) c.797A>T (p.Glu266Val) | gnomAD v4 |
| 5 | g.69420531G>A | CA444790668 | MARVELD2 | c.1146G>A (p.Glu382=) c.798G>A (p.Glu266=) | |
| 5 | g.69420531G>C | CA359925820 | MARVELD2 | c.1146G>C (p.Glu382Asp) c.798G>C (p.Glu266Asp) | |
| 5 | g.69420531G= | CA1553917513 | MARVELD2 | c.1146G= (p.Glu382=) c.798G= (p.Glu266=) | |
| 5 | g.69420531G>T | CA3294177 | MARVELD2 | c.1146G>T (p.Glu382Asp) c.798G>T (p.Glu266Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420532G>A | CA359925822 | MARVELD2 | c.1146+1G>A (n.1146+1G>A) c.798+1G>A (n.798+1G>A) | dbSNP gnomAD v2 |
| 5 | g.69420532G>C | CA359925823 | MARVELD2 | c.1146+1G>C (n.1146+1G>C) c.798+1G>C (n.798+1G>C) | |
| 5 | g.69420532G= | CA1553917515 | MARVELD2 | c.1146+1G= (n.1146+1G=) c.798+1G= (n.798+1G=) | |
| 5 | g.69420532G>T | CA359925821 | MARVELD2 | c.1146+1G>T (n.1146+1G>T) c.798+1G>T (n.798+1G>T) | gnomAD v4 |
| 5 | g.69420533T>A | CA359925825 | MARVELD2 | c.1146+2T>A (n.1146+2T>A) c.798+2T>A (n.798+2T>A) | |
| 5 | g.69420533T>C | CA359925824 | MARVELD2 | c.1146+2T>C (n.1146+2T>C) c.798+2T>C (n.798+2T>C) | |
| 5 | g.69420533T>G | CA359925826 | MARVELD2 | c.1146+2T>G (n.1146+2T>G) c.798+2T>G (n.798+2T>G) | |
| 5 | g.69420535A= | CA1553917518 | MARVELD2 | c.1146+4A= (n.1146+4A=) c.798+4A= (n.798+4A=) | |
| 5 | g.69420535A>C | CA2674131837 | MARVELD2 | c.1146+4A>C (n.1146+4A>C) c.798+4A>C (n.798+4A>C) | gnomAD v4 |
| 5 | g.69420535A>G | CA3294178 | MARVELD2 | c.1146+4A>G (n.1146+4A>G) c.798+4A>G (n.798+4A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420536G>A | CA2578329381 | MARVELD2 | c.1146+5G>A (n.1146+5G>A) c.798+5G>A (n.798+5G>A) | |
| 5 | g.69420536G>T | CA2674131840 | MARVELD2 | c.1146+5G>T (n.1146+5G>T) c.798+5G>T (n.798+5G>T) | gnomAD v4 |
| 5 | g.69420537T>G | CA813534357 | MARVELD2 | c.1146+6T>G (n.1146+6T>G) c.798+6T>G (n.798+6T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420537T= | CA1553917520 | MARVELD2 | c.1146+6T= (n.1146+6T=) c.798+6T= (n.798+6T=) | |
| 5 | g.69420538G>A | CA119992650 | MARVELD2 | c.1146+7G>A (n.1146+7G>A) c.798+7G>A (n.798+7G>A) | dbSNP |
| 5 | g.69420538G= | CA1553917521 | MARVELD2 | c.1146+7G= (n.1146+7G=) c.798+7G= (n.798+7G=) | |
| 5 | g.69420538G>T | CA2674131844 | MARVELD2 | c.1146+7G>T (n.1146+7G>T) c.798+7G>T (n.798+7G>T) | gnomAD v4 |
| 5 | g.69420539A= | CA1553917523 | MARVELD2 | c.1146+8A= (n.1146+8A=) c.798+8A= (n.798+8A=) | |
| 5 | g.69420539A>G | CA3294179 | MARVELD2 | c.1146+8A>G (n.1146+8A>G) c.798+8A>G (n.798+8A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420543C>A | CA2674131852 | MARVELD2 | c.1146+12C>A (n.1146+12C>A) c.798+12C>A (n.798+12C>A) | gnomAD v4 |
| 5 | g.69420544A>C | CA2674131853 | MARVELD2 | c.1146+13A>C (n.1146+13A>C) c.798+13A>C (n.798+13A>C) | gnomAD v4 |
| 5 | g.69420544A>G | CA2674131857 | MARVELD2 | c.1146+13A>G (n.1146+13A>G) c.798+13A>G (n.798+13A>G) | gnomAD v4 |
| 5 | g.69420545del | CA2578329382 | MARVELD2 | c.1146+14del (n.1146+14del) c.798+14del (n.798+14del) | |
| 5 | g.69420546A= | CA1553917525 | MARVELD2 | c.1146+15A= (n.1146+15A=) c.798+15A= (n.798+15A=) | |
| 5 | g.69420546A>G | CA559884859 | MARVELD2 | c.1146+15A>G (n.1146+15A>G) c.798+15A>G (n.798+15A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420547del | CA2578329383 | MARVELD2 | c.1146+16del (n.1146+16del) c.798+16del (n.798+16del) | |
| 5 | g.69420549C>G | CA2674131861 | MARVELD2 | c.1146+18C>G (n.1146+18C>G) c.798+18C>G (n.798+18C>G) | gnomAD v4 |
| 5 | g.69420549C>T | CA2674131864 | MARVELD2 | c.1146+18C>T (n.1146+18C>T) c.798+18C>T (n.798+18C>T) | gnomAD v4 |
| 5 | g.69420550C= | CA1553917528 | MARVELD2 | c.1146+19C= (n.1146+19C=) c.798+19C= (n.798+19C=) | |
| 5 | g.69420550C>G | CA559884862 | MARVELD2 | c.1146+19C>G (n.1146+19C>G) c.798+19C>G (n.798+19C>G) | dbSNP gnomAD v2 |
| 5 | g.69420550C>T | CA2578329384 | MARVELD2 | c.1146+19C>T (n.1146+19C>T) c.798+19C>T (n.798+19C>T) | |
| 5 | g.69420552T>A | CA2674131865 | MARVELD2 | c.1146+21T>A (n.1146+21T>A) c.798+21T>A (n.798+21T>A) | gnomAD v4 |
| 5 | g.69420553C= | CA1553917530 | MARVELD2 | c.1146+22C= (n.1146+22C=) c.798+22C= (n.798+22C=) | |
| 5 | g.69420553C>T | CA3294180 | MARVELD2 | c.1146+22C>T (n.1146+22C>T) c.798+22C>T (n.798+22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420554A= | CA1553917531 | MARVELD2 | c.1146+23A= (n.1146+23A=) c.798+23A= (n.798+23A=) | |
| 5 | g.69420554A>G | CA3294181 | MARVELD2 | c.1146+23A>G (n.1146+23A>G) c.798+23A>G (n.798+23A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420556T>G | CA2578329385 | MARVELD2 | c.1146+25T>G (n.1146+25T>G) c.798+25T>G (n.798+25T>G) | |
| 5 | g.69420564_69420565del | CA2578329386 | MARVELD2 | c.1146+33_1146+34del (n.1146+33_1146+34del) c.798+33_798+34del (n.798+33_798+34del) | |
| 5 | g.69420558G>T | CA2674131873 | MARVELD2 | c.1146+27G>T (n.1146+27G>T) c.798+27G>T (n.798+27G>T) | gnomAD v4 |
| 5 | g.69420560G>A | CA2740648397 | MARVELD2 | c.1146+29G>A (n.1146+29G>A) c.798+29G>A (n.798+29G>A) | |
| 5 | g.69420560G>T | CA2674131879 | MARVELD2 | c.1146+29G>T (n.1146+29G>T) c.798+29G>T (n.798+29G>T) | gnomAD v4 |
| 5 | g.69420562G>A | CA559884866 | MARVELD2 | c.1146+31G>A (n.1146+31G>A) c.798+31G>A (n.798+31G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420562G>C | CA2674131884 | MARVELD2 | c.1146+31G>C (n.1146+31G>C) c.798+31G>C (n.798+31G>C) | gnomAD v4 |
| 5 | g.69420562G= | CA1553917533 | MARVELD2 | c.1146+31G= (n.1146+31G=) c.798+31G= (n.798+31G=) | |
| 5 | g.69420562G>T | CA2674131887 | MARVELD2 | c.1146+31G>T (n.1146+31G>T) c.798+31G>T (n.798+31G>T) | gnomAD v4 |
| 5 | g.69420563T>A | CA2578329387 | MARVELD2 | c.1146+32T>A (n.1146+32T>A) c.798+32T>A (n.798+32T>A) | |
| 5 | g.69420563T>G | CA119992676 | MARVELD2 | c.1146+32T>G (n.1146+32T>G) c.798+32T>G (n.798+32T>G) | dbSNP gnomAD v4 |
| 5 | g.69420563T= | CA1553917535 | MARVELD2 | c.1146+32T= (n.1146+32T=) c.798+32T= (n.798+32T=) | |
| 5 | g.69420564G= | CA1553917539 | MARVELD2 | c.1146+33G= (n.1146+33G=) c.798+33G= (n.798+33G=) | |
| 5 | g.69420564G>T | CA1077192700 | MARVELD2 | c.1146+33G>T (n.1146+33G>T) c.798+33G>T (n.798+33G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420564_69420566delinsGTA | CA1553917537 | MARVELD2 | c.1146+33_1146+35delinsGTA (n.1146+33_1146+35delinsGTA) c.798+33_798+35delinsGTA (n.798+33_798+35delinsGTA) | |
| 5 | g.69420565T>C | CA559884868 | MARVELD2 | c.1146+34T>C (n.1146+34T>C) c.798+34T>C (n.798+34T>C) | dbSNP gnomAD v2 |
| 5 | g.69420565T= | CA1553917540 | MARVELD2 | c.1146+34T= (n.1146+34T=) c.798+34T= (n.798+34T=) | |
| 5 | g.69420566_69420567del | CA559884867 | MARVELD2 | c.1146+35_1146+36del (n.1146+35_1146+36del) c.798+35_798+36del (n.798+35_798+36del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420566A= | CA1553917543 | MARVELD2 | c.1146+35A= (n.1146+35A=) c.798+35A= (n.798+35A=) | |
| 5 | g.69420566A>C | CA559884869 | MARVELD2 | c.1146+35A>C (n.1146+35A>C) c.798+35A>C (n.798+35A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420566A>G | CA559884870 | MARVELD2 | c.1146+35A>G (n.1146+35A>G) c.798+35A>G (n.798+35A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420566_69420570delinsATGTT | CA1553917542 | MARVELD2 | c.1146+35_1146+39delinsATGTT (n.1146+35_1146+39delinsATGTT) c.798+35_798+39delinsATGTT (n.798+35_798+39delinsATGTT) | |
| 5 | g.69420572_69420575del | CA3294182 | MARVELD2 | c.1146+41_1146+44del (n.1146+41_1146+44del) c.798+41_798+44del (n.798+41_798+44del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420568G>T | CA2674131899 | MARVELD2 | c.1146+37G>T (n.1146+37G>T) c.798+37G>T (n.798+37G>T) | gnomAD v4 |
| 5 | g.69420569T>C | CA2674131900 | MARVELD2 | c.1146+38T>C (n.1146+38T>C) c.798+38T>C (n.798+38T>C) | gnomAD v4 |
| 5 | g.69420572G>A | CA2674131902 | MARVELD2 | c.1146+41G>A (n.1146+41G>A) c.798+41G>A (n.798+41G>A) | gnomAD v4 |
| 5 | g.69420572G>C | CA3294183 | MARVELD2 | c.1146+41G>C (n.1146+41G>C) c.798+41G>C (n.798+41G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420572G= | CA1553917546 | MARVELD2 | c.1146+41G= (n.1146+41G=) c.798+41G= (n.798+41G=) | |
| 5 | g.69420572G>T | CA2674131905 | MARVELD2 | c.1146+41G>T (n.1146+41G>T) c.798+41G>T (n.798+41G>T) | gnomAD v4 |
| 5 | g.69420573T>C | CA1553917548 | MARVELD2 | c.1146+42T>C (n.1146+42T>C) c.798+42T>C (n.798+42T>C) | dbSNP gnomAD v4 |
| 5 | g.69420573T= | CA1553917547 | MARVELD2 | c.1146+42T= (n.1146+42T=) c.798+42T= (n.798+42T=) | |
| 5 | g.69420578dup | CA559884875 | MARVELD2 | c.1146+47dup (n.1146+47dup) c.798+47dup (n.798+47dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420578del | CA2578329388 | MARVELD2 | c.1146+47del (n.1146+47del) c.798+47del (n.798+47del) | gnomAD v4 |
| 5 | g.69420574T>C | CA2578329389 | MARVELD2 | c.1146+43T>C (n.1146+43T>C) c.798+43T>C (n.798+43T>C) | |
| 5 | g.69420577T>A | CA559884877 | MARVELD2 | c.1146+46T>A (n.1146+46T>A) c.798+46T>A (n.798+46T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420577T>C | CA2578329390 | MARVELD2 | c.1146+46T>C (n.1146+46T>C) c.798+46T>C (n.798+46T>C) | gnomAD v4 |
| 5 | g.69420577T= | CA1553917549 | MARVELD2 | c.1146+46T= (n.1146+46T=) c.798+46T= (n.798+46T=) | |
| 5 | g.69420579C>T | CA2674131916 | MARVELD2 | c.1146+48C>T (n.1146+48C>T) c.798+48C>T (n.798+48C>T) | gnomAD v4 |
| 5 | g.69420580T>A | CA2674131920 | MARVELD2 | c.1146+49T>A (n.1146+49T>A) c.798+49T>A (n.798+49T>A) | gnomAD v4 |
| 5 | g.69420580T>C | CA3294184 | MARVELD2 | c.1146+49T>C (n.1146+49T>C) c.798+49T>C (n.798+49T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420580T= | CA1553917550 | MARVELD2 | c.1146+49T= (n.1146+49T=) c.798+49T= (n.798+49T=) | |
| 5 | g.69420581G>A | CA1553917552 | MARVELD2 | c.1146+50G>A (n.1146+50G>A) c.798+50G>A (n.798+50G>A) | dbSNP |
| 5 | g.69420581G= | CA1553917551 | MARVELD2 | c.1146+50G= (n.1146+50G=) c.798+50G= (n.798+50G=) | |
| 5 | g.69420582T>C | CA2674131923 | MARVELD2 | c.1146+51T>C (n.1146+51T>C) c.798+51T>C (n.798+51T>C) | gnomAD v4 |
| 5 | g.69420582T>G | CA2674131926 | MARVELD2 | c.1146+51T>G (n.1146+51T>G) c.798+51T>G (n.798+51T>G) | gnomAD v4 |
| 5 | g.69420583T>A | CA559884881 | MARVELD2 | c.1146+52T>A (n.1146+52T>A) c.798+52T>A (n.798+52T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420583T= | CA1553917553 | MARVELD2 | c.1146+52T= (n.1146+52T=) c.798+52T= (n.798+52T=) | |
| 5 | g.69420584A>G | CA2674131931 | MARVELD2 | c.1146+53A>G (n.1146+53A>G) c.798+53A>G (n.798+53A>G) | dbSNP gnomAD v4 |
| 5 | g.69420585T>C | CA2674131933 | MARVELD2 | c.1146+54T>C (n.1146+54T>C) c.798+54T>C (n.798+54T>C) | gnomAD v4 |
| 5 | g.69420586T>G | CA1553917556 | MARVELD2 | c.1146+55T>G (n.1146+55T>G) c.798+55T>G (n.798+55T>G) | dbSNP gnomAD v4 |
| 5 | g.69420586T= | CA1553917555 | MARVELD2 | c.1146+55T= (n.1146+55T=) c.798+55T= (n.798+55T=) | |
| 5 | g.69420588G>A | CA2578329391 | MARVELD2 | c.1146+57G>A (n.1146+57G>A) c.798+57G>A (n.798+57G>A) | gnomAD v4 |
| 5 | g.69420588G= | CA1553917558 | MARVELD2 | c.1146+57G= (n.1146+57G=) c.798+57G= (n.798+57G=) | |
| 5 | g.69420588G>T | CA1553917559 | MARVELD2 | c.1146+57G>T (n.1146+57G>T) c.798+57G>T (n.798+57G>T) | dbSNP gnomAD v4 |
| 5 | g.69420589C>A | CA2674131938 | MARVELD2 | c.1146+58C>A (n.1146+58C>A) c.798+58C>A (n.798+58C>A) | gnomAD v4 |
| 5 | g.69420589C= | CA1553917561 | MARVELD2 | c.1146+58C= (n.1146+58C=) c.798+58C= (n.798+58C=) | |
| 5 | g.69420589C>T | CA813534408 | MARVELD2 | c.1146+58C>T (n.1146+58C>T) c.798+58C>T (n.798+58C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420590T>C | CA559884882 | MARVELD2 | c.1146+59T>C (n.1146+59T>C) c.798+59T>C (n.798+59T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420590T= | CA1553917562 | MARVELD2 | c.1146+59T= (n.1146+59T=) c.798+59T= (n.798+59T=) | |
| 5 | g.69420592C= | CA1553917563 | MARVELD2 | c.1146+61C= (n.1146+61C=) c.798+61C= (n.798+61C=) | |
| 5 | g.69420592C>T | CA813534412 | MARVELD2 | c.1146+61C>T (n.1146+61C>T) c.798+61C>T (n.798+61C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420593C>A | CA2578329392 | MARVELD2 | c.1146+62C>A (n.1146+62C>A) c.798+62C>A (n.798+62C>A) | gnomAD v4 |
| 5 | g.69420594T>C | CA2674131945 | MARVELD2 | c.1146+63T>C (n.1146+63T>C) c.798+63T>C (n.798+63T>C) | gnomAD v4 |
| 5 | g.69420595del | CA2674131944 | MARVELD2 | c.1146+64del (n.1146+64del) c.798+64del (n.798+64del) | gnomAD v4 |
| 5 | g.69420597T>G | CA2674131946 | MARVELD2 | c.1146+66T>G (n.1146+66T>G) c.798+66T>G (n.798+66T>G) | gnomAD v4 |
| 5 | g.69420598T= | CA1553917564 | MARVELD2 | c.1146+67T= (n.1146+67T=) c.798+67T= (n.798+67T=) | |
| 5 | g.69420604dup | CA1553917565 | MARVELD2 | c.1146+73dup (n.1146+73dup) c.798+73dup (n.798+73dup) | dbSNP gnomAD v4 |
| 5 | g.69420604del | CA2766863469 | MARVELD2 | c.1146+73del (n.1146+73del) c.798+73del (n.798+73del) |