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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows 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.69419523_69419553delinsGCCACCACCCCCTCTCCCATTACAGCCACCA | CA1553915781 | MARVELD2 | c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA (p.Leu46=) | |
| 5 | g.69419524_69419553del | CA3293981 | MARVELD2 | c.139_168del (p.Pro47_Pro56del) | dbSNP ExAC |
| 5 | g.69419550A= | CA1553915819 | MARVELD2 | c.165A= (p.Pro55=) | |
| 5 | g.69419550A>C | CA445083106 | MARVELD2 | c.165A>C (p.Pro55=) | |
| 5 | g.69419550A>G | CA3293987 | MARVELD2 | c.165A>G (p.Pro55=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419550A>T | CA445083107 | MARVELD2 | c.165A>T (p.Pro55=) | |
| 5 | g.69419551C>A | CA359922160 | MARVELD2 | c.166C>A (p.Pro56Thr) | |
| 5 | g.69419551C= | CA1553915821 | MARVELD2 | c.166C= (p.Pro56=) | |
| 5 | g.69419551C>G | CA359922161 | MARVELD2 | c.166C>G (p.Pro56Ala) | |
| 5 | g.69419551C>T | CA359922163 | MARVELD2 | c.166C>T (p.Pro56Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419552del | CA2766864310 | MARVELD2 | c.167del (p.Pro56HisfsTer16) | |
| 5 | g.69419552C>A | CA359922169 | MARVELD2 | c.167C>A (p.Pro56Gln) | gnomAD v4 |
| 5 | g.69419552C= | CA1553915824 | MARVELD2 | c.167C= (p.Pro56=) | |
| 5 | g.69419552C>G | CA359922165 | MARVELD2 | c.167C>G (p.Pro56Arg) | dbSNP gnomAD v4 |
| 5 | g.69419552C>T | CA359922166 | MARVELD2 | c.167C>T (p.Pro56Leu) | |
| 5 | g.69419553A>C | CA445083111 | MARVELD2 | c.168A>C (p.Pro56=) | |
| 5 | g.69419553A>G | CA445083112 | MARVELD2 | c.168A>G (p.Pro56=) | |
| 5 | g.69419553A>T | CA445083113 | MARVELD2 | c.168A>T (p.Pro56=) | |
| 5 | g.69419554T>A | CA359922170 | MARVELD2 | c.169T>A (p.Phe57Ile) | |
| 5 | g.69419554T>C | CA359922172 | MARVELD2 | c.169T>C (p.Phe57Leu) | |
| 5 | g.69419554T>G | CA359922174 | MARVELD2 | c.169T>G (p.Phe57Val) | |
| 5 | g.69419555T>A | CA359922176 | MARVELD2 | c.170T>A (p.Phe57Tyr) | |
| 5 | g.69419555T>C | CA359922178 | MARVELD2 | c.170T>C (p.Phe57Ser) | |
| 5 | g.69419555T>G | CA359922179 | MARVELD2 | c.170T>G (p.Phe57Cys) | |
| 5 | g.69419556C>A | CA359922182 | MARVELD2 | c.171C>A (p.Phe57Leu) | |
| 5 | g.69419556C= | CA1553915828 | MARVELD2 | c.171C= (p.Phe57=) | |
| 5 | g.69419556C>G | CA359922184 | MARVELD2 | c.171C>G (p.Phe57Leu) | |
| 5 | g.69419556C>T | CA3293988 | MARVELD2 | c.171C>T (p.Phe57=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69419557G>A | CA3293989 | MARVELD2 | c.172G>A (p.Gly58Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69419557G>C | CA359922187 | MARVELD2 | c.172G>C (p.Gly58Arg) | |
| 5 | g.69419557G= | CA1553915833 | MARVELD2 | c.172G= (p.Gly58=) | |
| 5 | g.69419557G>T | CA359922189 | MARVELD2 | c.172G>T (p.Gly58Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419558G>A | CA359922194 | MARVELD2 | c.173G>A (p.Gly58Asp) | |
| 5 | g.69419558G>C | CA359922195 | MARVELD2 | c.173G>C (p.Gly58Ala) | |
| 5 | g.69419558G>T | CA359922192 | MARVELD2 | c.173G>T (p.Gly58Val) | |
| 5 | g.69419558_69419561delinsGCCC | CA1553915836 | MARVELD2 | c.173_176delinsGCCC (p.Gly58=) | |
| 5 | g.69419559C>A | CA445083114 | MARVELD2 | c.174C>A (p.Gly58=) | |
| 5 | g.69419559C>G | CA445083115 | MARVELD2 | c.174C>G (p.Gly58=) | |
| 5 | g.69419559C>T | CA445083116 | MARVELD2 | c.174C>T (p.Gly58=) | |
| 5 | g.69419559_69419561del | CA3293990 | MARVELD2 | c.174_176del (p.Pro59del) | dbSNP ExAC |
| 5 | g.69419560C>A | CA359922198 | MARVELD2 | c.175C>A (p.Pro59Thr) | |
| 5 | g.69419560C>G | CA359922202 | MARVELD2 | c.175C>G (p.Pro59Ala) | |
| 5 | g.69419560C>T | CA359922200 | MARVELD2 | c.175C>T (p.Pro59Ser) | |
| 5 | g.69419561C>A | CA359922204 | MARVELD2 | c.176C>A (p.Pro59Gln) | |
| 5 | g.69419561C= | CA1553915846 | MARVELD2 | c.176C= (p.Pro59=) | |
| 5 | g.69419561C>G | CA359922206 | MARVELD2 | c.176C>G (p.Pro59Arg) | gnomAD v4 |
| 5 | g.69419561C>T | CA3293991 | MARVELD2 | c.176C>T (p.Pro59Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419562A>C | CA445083119 | MARVELD2 | c.177A>C (p.Pro59=) | |
| 5 | g.69419562A>G | CA445083117 | MARVELD2 | c.177A>G (p.Pro59=) | |
| 5 | g.69419562A>T | CA445083118 | MARVELD2 | c.177A>T (p.Pro59=) | |
| 5 | g.69419563G>A | CA359922208 | MARVELD2 | c.178G>A (p.Asp60Asn) | |
| 5 | g.69419563G>C | CA359922210 | MARVELD2 | c.178G>C (p.Asp60His) | |
| 5 | g.69419563G= | CA1553915850 | MARVELD2 | c.178G= (p.Asp60=) | |
| 5 | g.69419563G>T | CA3293992 | MARVELD2 | c.178G>T (p.Asp60Tyr) | dbSNP ExAC |
| 5 | g.69419564A>C | CA359922213 | MARVELD2 | c.179A>C (p.Asp60Ala) | |
| 5 | g.69419564A>G | CA359922215 | MARVELD2 | c.179A>G (p.Asp60Gly) | |
| 5 | g.69419564A>T | CA359922216 | MARVELD2 | c.179A>T (p.Asp60Val) | |
| 5 | g.69419564_69419565delinsAC | CA1553915854 | MARVELD2 | c.179_180delinsAC (p.Asp60=) | |
| 5 | g.69419565del | CA3293993 | MARVELD2 | c.180del (p.Phe61SerfsTer11) | dbSNP ExAC |
| 5 | g.69419565C>A | CA359922219 | MARVELD2 | c.180C>A (p.Asp60Glu) | |
| 5 | g.69419565C>G | CA359922221 | MARVELD2 | c.180C>G (p.Asp60Glu) | |
| 5 | g.69419565C>T | CA445083120 | MARVELD2 | c.180C>T (p.Asp60=) | |
| 5 | g.69419566T>A | CA359922223 | MARVELD2 | c.181T>A (p.Phe61Ile) | |
| 5 | g.69419566T>C | CA359922225 | MARVELD2 | c.181T>C (p.Phe61Leu) | |
| 5 | g.69419566T>G | CA359922227 | MARVELD2 | c.181T>G (p.Phe61Val) | |
| 5 | g.69419566T= | CA1553915859 | MARVELD2 | c.181T= (p.Phe61=) | |
| 5 | g.69419567T>A | CA359922232 | MARVELD2 | c.182T>A (p.Phe61Tyr) | |
| 5 | g.69419567T>C | CA359922230 | MARVELD2 | c.182T>C (p.Phe61Ser) | |
| 5 | g.69419567T>G | CA359922229 | MARVELD2 | c.182T>G (p.Phe61Cys) | |
| 5 | g.69419568_69419569dup | CA813532219 | MARVELD2 | c.183_184dup (p.Tyr62SerfsTer11) | dbSNP |
| 5 | g.69419568C>A | CA359922234 | MARVELD2 | c.183C>A (p.Phe61Leu) | |
| 5 | g.69419568C= | CA1553915868 | MARVELD2 | c.183C= (p.Phe61=) | |
| 5 | g.69419568C>G | CA359922236 | MARVELD2 | c.183C>G (p.Phe61Leu) | |
| 5 | g.69419568C>T | CA119991008 | MARVELD2 | c.183C>T (p.Phe61=) | dbSNP gnomAD v4 |
| 5 | g.69419570_69419572del | CA2674131172 | MARVELD2 | c.185_187del (p.Tyr62del) | gnomAD v4 |
| 5 | g.69419568_69419578delinsCTACTCAAGTG | CA1553915866 | MARVELD2 | c.183_193delinsCTACTCAAGTG (p.Phe61=) | |
| 5 | g.69419569T>A | CA359922239 | MARVELD2 | c.184T>A (p.Tyr62Asn) | |
| 5 | g.69419569T>C | CA359922241 | MARVELD2 | c.184T>C (p.Tyr62His) | |
| 5 | g.69419569T>G | CA359922243 | MARVELD2 | c.184T>G (p.Tyr62Asp) | |
| 5 | g.69419569_69419578del | CA3293994 | MARVELD2 | c.184_193del (p.Tyr62ThrfsTer7) | dbSNP ExAC |
| 5 | g.69419570A>C | CA359922246 | MARVELD2 | c.185A>C (p.Tyr62Ser) | |
| 5 | g.69419570A>G | CA359922248 | MARVELD2 | c.185A>G (p.Tyr62Cys) | |
| 5 | g.69419570A>T | CA359922250 | MARVELD2 | c.185A>T (p.Tyr62Phe) | |
| 5 | g.69419571C>A | CA359922252 | MARVELD2 | c.186C>A (p.Tyr62Ter) | |
| 5 | g.69419571C= | CA1553915873 | MARVELD2 | c.186C= (p.Tyr62=) | |
| 5 | g.69419571C>G | CA359922254 | MARVELD2 | c.186C>G (p.Tyr62Ter) | |
| 5 | g.69419571C>T | CA119991011 | MARVELD2 | c.186C>T (p.Tyr62=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.69419572T>A | CA359922259 | MARVELD2 | c.187T>A (p.Ser63Thr) | |
| 5 | g.69419572T>C | CA359922261 | MARVELD2 | c.187T>C (p.Ser63Pro) | |
| 5 | g.69419572T>G | CA359922256 | MARVELD2 | c.187T>G (p.Ser63Ala) | |
| 5 | g.69419573C>A | CA3293996 | MARVELD2 | c.188C>A (p.Ser63Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419573C= | CA1553915876 | MARVELD2 | c.188C= (p.Ser63=) | |
| 5 | g.69419573C>G | CA359922264 | MARVELD2 | c.188C>G (p.Ser63Ter) | |
| 5 | g.69419573C>T | CA3293995 | MARVELD2 | c.188C>T (p.Ser63Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419574A= | CA1553915878 | MARVELD2 | c.189A= (p.Ser63=) | |
| 5 | g.69419574A>C | CA445083181 | MARVELD2 | c.189A>C (p.Ser63=) | |
| 5 | g.69419574A>G | CA445083183 | MARVELD2 | c.189A>G (p.Ser63=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419574A>T | CA445083184 | MARVELD2 | c.189A>T (p.Ser63=) | |
| 5 | g.69419575A>C | CA359922267 | MARVELD2 | c.190A>C (p.Ser64Arg) | |
| 5 | g.69419575A>G | CA359922269 | MARVELD2 | c.190A>G (p.Ser64Gly) | gnomAD v4 |
| 5 | g.69419575A>T | CA359922270 | MARVELD2 | c.190A>T (p.Ser64Cys) | |
| 5 | g.69419576G>A | CA359922272 | MARVELD2 | c.191G>A (p.Ser64Asn) | gnomAD v4 |
| 5 | g.69419576G>C | CA359922273 | MARVELD2 | c.191G>C (p.Ser64Thr) | |
| 5 | g.69419576G>T | CA359922274 | MARVELD2 | c.191G>T (p.Ser64Ile) | |
| 5 | g.69419577T>A | CA359922277 | MARVELD2 | c.192T>A (p.Ser64Arg) | |
| 5 | g.69419577T>C | CA445083188 | MARVELD2 | c.192T>C (p.Ser64=) | |
| 5 | g.69419577T>G | CA359922278 | MARVELD2 | c.192T>G (p.Ser64Arg) | |
| 5 | g.69419578G>A | CA359922284 | MARVELD2 | c.193G>A (p.Asp65Asn) | |
| 5 | g.69419578G>C | CA359922280 | MARVELD2 | c.193G>C (p.Asp65His) | |
| 5 | g.69419578G>T | CA359922282 | MARVELD2 | c.193G>T (p.Asp65Tyr) | |
| 5 | g.69419579A>C | CA359922286 | MARVELD2 | c.194A>C (p.Asp65Ala) | |
| 5 | g.69419579A>G | CA359922287 | MARVELD2 | c.194A>G (p.Asp65Gly) | |
| 5 | g.69419579A>T | CA359922288 | MARVELD2 | c.194A>T (p.Asp65Val) | |
| 5 | g.69419580C>A | CA359922289 | MARVELD2 | c.195C>A (p.Asp65Glu) | |
| 5 | g.69419580C>G | CA359922292 | MARVELD2 | c.195C>G (p.Asp65Glu) | |
| 5 | g.69419580C>T | CA445083196 | MARVELD2 | c.195C>T (p.Asp65=) | |
| 5 | g.69419581A>C | CA359922295 | MARVELD2 | c.196A>C (p.Thr66Pro) | |
| 5 | g.69419581A>G | CA359922297 | MARVELD2 | c.196A>G (p.Thr66Ala) | |
| 5 | g.69419581A>T | CA359922299 | MARVELD2 | c.196A>T (p.Thr66Ser) | |
| 5 | g.69419582C>A | CA359922301 | MARVELD2 | c.197C>A (p.Thr66Lys) | |
| 5 | g.69419582C>G | CA359922303 | MARVELD2 | c.197C>G (p.Thr66Arg) | ClinVar |
| 5 | g.69419582C>T | CA359922305 | MARVELD2 | c.197C>T (p.Thr66Ile) | gnomAD v4 |
| 5 | g.69419582_69419585delinsCAGA | CA1553915880 | MARVELD2 | c.197_200delinsCAGA (p.Thr66=) | |
| 5 | g.69419583A>C | CA445083201 | MARVELD2 | c.198A>C (p.Thr66=) | |
| 5 | g.69419583A>G | CA445083203 | MARVELD2 | c.198A>G (p.Thr66=) | |
| 5 | g.69419583A>T | CA445083202 | MARVELD2 | c.198A>T (p.Thr66=) | |
| 5 | g.69419587_69419589del | CA1077191978 | MARVELD2 | c.202_204del (p.Glu68del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419584G>A | CA359922309 | MARVELD2 | c.199G>A (p.Glu67Lys) | |
| 5 | g.69419584G>C | CA359922311 | MARVELD2 | c.199G>C (p.Glu67Gln) | |
| 5 | g.69419584G= | CA1553915883 | MARVELD2 | c.199G= (p.Glu67=) | |
| 5 | g.69419584G>T | CA359922307 | MARVELD2 | c.199G>T (p.Glu67Ter) | |
| 5 | g.69419584_69419585delinsGA | CA1553915885 | MARVELD2 | c.199_200delinsGA (p.Glu67=) | |
| 5 | g.69419584_69419585insC | CA560299379 | MARVELD2 | c.199_200insC (p.Glu67AlafsTer18) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419585A>C | CA359922315 | MARVELD2 | c.200A>C (p.Glu67Ala) | |
| 5 | g.69419585A>G | CA359922313 | MARVELD2 | c.200A>G (p.Glu67Gly) | |
| 5 | g.69419585A>T | CA359922314 | MARVELD2 | c.200A>T (p.Glu67Val) | |
| 5 | g.69419586del | CA560299378 | MARVELD2 | c.201del (p.Glu68AsnfsTer4) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419586A>C | CA359922317 | MARVELD2 | c.201A>C (p.Glu67Asp) | gnomAD v4 |
| 5 | g.69419586A>G | CA445083210 | MARVELD2 | c.201A>G (p.Glu67=) | |
| 5 | g.69419586A>T | CA359922318 | MARVELD2 | c.201A>T (p.Glu67Asp) | |
| 5 | g.69419587G>A | CA359922320 | MARVELD2 | c.202G>A (p.Glu68Lys) | |
| 5 | g.69419587G>C | CA359922322 | MARVELD2 | c.202G>C (p.Glu68Gln) | |
| 5 | g.69419587G>T | CA359922323 | MARVELD2 | c.202G>T (p.Glu68Ter) | |
| 5 | g.69419588A= | CA1553915894 | MARVELD2 | c.203A= (p.Glu68=) | |
| 5 | g.69419588A>C | CA359922325 | MARVELD2 | c.203A>C (p.Glu68Ala) | |
| 5 | g.69419588A>G | CA3293997 | MARVELD2 | c.203A>G (p.Glu68Gly) | dbSNP ExAC gnomAD v2 |
| 5 | g.69419588A>T | CA359922328 | MARVELD2 | c.203A>T (p.Glu68Val) | |
| 5 | g.69419589A= | CA1553915896 | MARVELD2 | c.204A= (p.Glu68=) | |
| 5 | g.69419589A>C | CA359922330 | MARVELD2 | c.204A>C (p.Glu68Asp) | |
| 5 | g.69419589A>G | CA445083211 | MARVELD2 | c.204A>G (p.Glu68=) | |
| 5 | g.69419589A>T | CA359922331 | MARVELD2 | c.204A>T (p.Glu68Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419590C>A | CA359922336 | MARVELD2 | c.205C>A (p.Pro69Thr) | |
| 5 | g.69419590C>G | CA359922333 | MARVELD2 | c.205C>G (p.Pro69Ala) | |
| 5 | g.69419590C>T | CA359922334 | MARVELD2 | c.205C>T (p.Pro69Ser) | |
| 5 | g.69419591del | CA2674131173 | MARVELD2 | c.206del (p.Pro69GlnfsTer3) | gnomAD v4 |
| 5 | g.69419591C>A | CA3293998 | MARVELD2 | c.206C>A (p.Pro69Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419591C= | CA1553915898 | MARVELD2 | c.206C= (p.Pro69=) | |
| 5 | g.69419591C>G | CA359922338 | MARVELD2 | c.206C>G (p.Pro69Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419591C>T | CA359922340 | MARVELD2 | c.206C>T (p.Pro69Leu) | |
| 5 | g.69419592A>C | CA445083216 | MARVELD2 | c.207A>C (p.Pro69=) | |
| 5 | g.69419592A>G | CA445083217 | MARVELD2 | c.207A>G (p.Pro69=) | |
| 5 | g.69419592A>T | CA445083218 | MARVELD2 | c.207A>T (p.Pro69=) | |
| 5 | g.69419593G>A | CA359922342 | MARVELD2 | c.208G>A (p.Ala70Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419593G>C | CA359922344 | MARVELD2 | c.208G>C (p.Ala70Pro) | |
| 5 | g.69419593G= | CA1553915901 | MARVELD2 | c.208G= (p.Ala70=) | |
| 5 | g.69419593G>T | CA359922346 | MARVELD2 | c.208G>T (p.Ala70Ser) | |
| 5 | g.69419594C>A | CA359922348 | MARVELD2 | c.209C>A (p.Ala70Asp) | |
| 5 | g.69419594C>G | CA359922350 | MARVELD2 | c.209C>G (p.Ala70Gly) | |
| 5 | g.69419594C>T | CA359922351 | MARVELD2 | c.209C>T (p.Ala70Val) | gnomAD v4 |
| 5 | g.69419595T>A | CA445083219 | MARVELD2 | c.210T>A (p.Ala70=) | |
| 5 | g.69419595T>C | CA445083221 | MARVELD2 | c.210T>C (p.Ala70=) | gnomAD v3 gnomAD v4 |
| 5 | g.69419595T>G | CA445083220 | MARVELD2 | c.210T>G (p.Ala70=) | |
| 5 | g.69419596A= | CA1553915907 | MARVELD2 | c.211A= (p.Ile71=) | |
| 5 | g.69419596A>C | CA359922353 | MARVELD2 | c.211A>C (p.Ile71Leu) | |
| 5 | g.69419596A>G | CA185514 | MARVELD2 | c.211A>G (p.Ile71Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69419596A>T | CA359922354 | MARVELD2 | c.211A>T (p.Ile71Leu) | |
| 5 | g.69419597T>A | CA359922356 | MARVELD2 | c.212T>A (p.Ile71Lys) | |
| 5 | g.69419597T>C | CA359922357 | MARVELD2 | c.212T>C (p.Ile71Thr) | |
| 5 | g.69419597T>G | CA359922355 | MARVELD2 | c.212T>G (p.Ile71Arg) | |
| 5 | g.69419598A>C | CA445083224 | MARVELD2 | c.213A>C (p.Ile71=) | |
| 5 | g.69419598A>G | CA359922358 | MARVELD2 | c.213A>G (p.Ile71Met) | gnomAD v4 |
| 5 | g.69419598A>T | CA445083225 | MARVELD2 | c.213A>T (p.Ile71=) | |
| 5 | g.69419599G>A | CA359922359 | MARVELD2 | c.214G>A (p.Ala72Thr) | |
| 5 | g.69419599G>C | CA359922361 | MARVELD2 | c.214G>C (p.Ala72Pro) | |
| 5 | g.69419599G>T | CA359922362 | MARVELD2 | c.214G>T (p.Ala72Ser) | |
| 5 | g.69419600C>A | CA359922365 | MARVELD2 | c.215C>A (p.Ala72Glu) | |
| 5 | g.69419600C= | CA1553915912 | MARVELD2 | c.215C= (p.Ala72=) | |
| 5 | g.69419600C>G | CA3293999 | MARVELD2 | c.215C>G (p.Ala72Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419600C>T | CA3294000 | MARVELD2 | c.215C>T (p.Ala72Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419601G>A | CA3294001 | MARVELD2 | c.216G>A (p.Ala72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419601G>C | CA445083230 | MARVELD2 | c.216G>C (p.Ala72=) | |
| 5 | g.69419601G= | CA1553915915 | MARVELD2 | c.216G= (p.Ala72=) | |
| 5 | g.69419601G>T | CA3294002 | MARVELD2 | c.216G>T (p.Ala72=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419602C>A | CA359922371 | MARVELD2 | c.217C>A (p.Pro73Thr) | |
| 5 | g.69419602C>G | CA359922372 | MARVELD2 | c.217C>G (p.Pro73Ala) | |
| 5 | g.69419602C>T | CA359922374 | MARVELD2 | c.217C>T (p.Pro73Ser) | |
| 5 | g.69419603C>A | CA359922378 | MARVELD2 | c.218C>A (p.Pro73Gln) | |
| 5 | g.69419603C>G | CA359922379 | MARVELD2 | c.218C>G (p.Pro73Arg) | |
| 5 | g.69419603C>T | CA359922376 | MARVELD2 | c.218C>T (p.Pro73Leu) | |
| 5 | g.69419604A>C | CA445083236 | MARVELD2 | c.219A>C (p.Pro73=) | |
| 5 | g.69419604A>G | CA445083237 | MARVELD2 | c.219A>G (p.Pro73=) | |
| 5 | g.69419604A>T | CA445083235 | MARVELD2 | c.219A>T (p.Pro73=) | |
| 5 | g.69419605G>A | CA359922381 | MARVELD2 | c.220G>A (p.Asp74Asn) | |
| 5 | g.69419605G>C | CA359922383 | MARVELD2 | c.220G>C (p.Asp74His) | |
| 5 | g.69419605G>T | CA359922385 | MARVELD2 | c.220G>T (p.Asp74Tyr) | |
| 5 | g.69419606A= | CA1553915918 | MARVELD2 | c.221A= (p.Asp74=) | |
| 5 | g.69419606A>C | CA359922386 | MARVELD2 | c.221A>C (p.Asp74Ala) | |
| 5 | g.69419606A>G | CA3294003 | MARVELD2 | c.221A>G (p.Asp74Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419606A>T | CA359922389 | MARVELD2 | c.221A>T (p.Asp74Val) | |
| 5 | g.69419607T>A | CA359922393 | MARVELD2 | c.222T>A (p.Asp74Glu) | |
| 5 | g.69419607T>C | CA445083241 | MARVELD2 | c.222T>C (p.Asp74=) | |
| 5 | g.69419607T>G | CA359922391 | MARVELD2 | c.222T>G (p.Asp74Glu) | |
| 5 | g.69419608C>A | CA359922394 | MARVELD2 | c.223C>A (p.Leu75Ile) | |
| 5 | g.69419608C>G | CA359922396 | MARVELD2 | c.223C>G (p.Leu75Val) | |
| 5 | g.69419608C>T | CA359922398 | MARVELD2 | c.223C>T (p.Leu75Phe) | |
| 5 | g.69419609T>A | CA359922401 | MARVELD2 | c.224T>A (p.Leu75His) | |
| 5 | g.69419609T>C | CA359922402 | MARVELD2 | c.224T>C (p.Leu75Pro) | |
| 5 | g.69419609T>G | CA359922404 | MARVELD2 | c.224T>G (p.Leu75Arg) | |
| 5 | g.69419610C>A | CA445083248 | MARVELD2 | c.225C>A (p.Leu75=) | |
| 5 | g.69419610C= | CA1553915923 | MARVELD2 | c.225C= (p.Leu75=) | |
| 5 | g.69419610C>G | CA445083249 | MARVELD2 | c.225C>G (p.Leu75=) | dbSNP |
| 5 | g.69419610C>T | CA445083250 | MARVELD2 | c.225C>T (p.Leu75=) | |
| 5 | g.69419611A= | CA1553915925 | MARVELD2 | c.226A= (p.Lys76=) | |
| 5 | g.69419611A>C | CA359922410 | MARVELD2 | c.226A>C (p.Lys76Gln) | gnomAD v4 |
| 5 | g.69419611A>G | CA359922408 | MARVELD2 | c.226A>G (p.Lys76Glu) | dbSNP gnomAD v4 |
| 5 | g.69419611A>T | CA359922406 | MARVELD2 | c.226A>T (p.Lys76Ter) | |
| 5 | g.69419612A= | CA1553915927 | MARVELD2 | c.227A= (p.Lys76=) | |
| 5 | g.69419612A>C | CA359922412 | MARVELD2 | c.227A>C (p.Lys76Thr) | dbSNP gnomAD v4 |
| 5 | g.69419612A>G | CA359922416 | MARVELD2 | c.227A>G (p.Lys76Arg) | gnomAD v4 |
| 5 | g.69419612A>T | CA359922414 | MARVELD2 | c.227A>T (p.Lys76Ile) | |
| 5 | g.69419613A= | CA1553915930 | MARVELD2 | c.228A= (p.Lys76=) | |
| 5 | g.69419613A>C | CA359922417 | MARVELD2 | c.228A>C (p.Lys76Asn) | dbSNP gnomAD v4 |
| 5 | g.69419613A>G | CA445083255 | MARVELD2 | c.228A>G (p.Lys76=) | |
| 5 | g.69419613A>T | CA359922419 | MARVELD2 | c.228A>T (p.Lys76Asn) | |
| 5 | g.69419614C>A | CA359922421 | MARVELD2 | c.229C>A (p.Pro77Thr) | |
| 5 | g.69419614C>G | CA359922423 | MARVELD2 | c.229C>G (p.Pro77Ala) | |
| 5 | g.69419614C>T | CA359922424 | MARVELD2 | c.229C>T (p.Pro77Ser) | |
| 5 | g.69419615C>A | CA359922427 | MARVELD2 | c.230C>A (p.Pro77Gln) | |
| 5 | g.69419615C>G | CA359922429 | MARVELD2 | c.230C>G (p.Pro77Arg) | |
| 5 | g.69419615C>T | CA359922431 | MARVELD2 | c.230C>T (p.Pro77Leu) | |
| 5 | g.69419616A>C | CA445083257 | MARVELD2 | c.231A>C (p.Pro77=) | |
| 5 | g.69419616A>G | CA445083259 | MARVELD2 | c.231A>G (p.Pro77=) | |
| 5 | g.69419616A>T | CA445083262 | MARVELD2 | c.231A>T (p.Pro77=) | |
| 5 | g.69419617G>A | CA359922434 | MARVELD2 | c.232G>A (p.Val78Ile) | gnomAD v4 |
| 5 | g.69419617G>C | CA359922435 | MARVELD2 | c.232G>C (p.Val78Leu) | |
| 5 | g.69419617G>T | CA359922437 | MARVELD2 | c.232G>T (p.Val78Leu) | |
| 5 | g.69419618T>A | CA359922440 | MARVELD2 | c.233T>A (p.Val78Glu) | |
| 5 | g.69419618T>C | CA359922442 | MARVELD2 | c.233T>C (p.Val78Ala) | |
| 5 | g.69419618T>G | CA359922444 | MARVELD2 | c.233T>G (p.Val78Gly) | |
| 5 | g.69419619A= | CA1553915934 | MARVELD2 | c.234A= (p.Val78=) | |
| 5 | g.69419619A>C | CA445083267 | MARVELD2 | c.234A>C (p.Val78=) | |
| 5 | g.69419619A>G | CA445083268 | MARVELD2 | c.234A>G (p.Val78=) | dbSNP gnomAD v4 |
| 5 | g.69419619A>T | CA445083269 | MARVELD2 | c.234A>T (p.Val78=) | |
| 5 | g.69419620A>C | CA445083270 | MARVELD2 | c.235A>C (p.Arg79=) | |
| 5 | g.69419620A>G | CA359922446 | MARVELD2 | c.235A>G (p.Arg79Gly) | |
| 5 | g.69419620A>T | CA359922447 | MARVELD2 | c.235A>T (p.Arg79Trp) | dbSNP |
| 5 | g.69419621G>A | CA359922449 | MARVELD2 | c.236G>A (p.Arg79Lys) | gnomAD v4 |
| 5 | g.69419621G>C | CA359922451 | MARVELD2 | c.236G>C (p.Arg79Thr) | |
| 5 | g.69419621G>T | CA359922453 | MARVELD2 | c.236G>T (p.Arg79Met) | |
| 5 | g.69419622G>A | CA445083275 | MARVELD2 | c.237G>A (p.Arg79=) | |
| 5 | g.69419622G>C | CA359922455 | MARVELD2 | c.237G>C (p.Arg79Ser) | |
| 5 | g.69419622G= | CA1553915937 | MARVELD2 | c.237G= (p.Arg79=) | |
| 5 | g.69419622G>T | CA359922457 | MARVELD2 | c.237G>T (p.Arg79Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419623C>A | CA359922459 | MARVELD2 | c.238C>A (p.Arg80Ser) | gnomAD v4 |
| 5 | g.69419623C= | CA1553915942 | MARVELD2 | c.238C= (p.Arg80=) | |
| 5 | g.69419623C>G | CA3294004 | MARVELD2 | c.238C>G (p.Arg80Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419623C>T | CA119991111 | MARVELD2 | c.238C>T (p.Arg80Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.69419624G>A | CA119991122 | MARVELD2 | c.239G>A (p.Arg80His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419624G>C | CA359922463 | MARVELD2 | c.239G>C (p.Arg80Pro) | |
| 5 | g.69419624G= | CA1553915945 | MARVELD2 | c.239G= (p.Arg80=) | |
| 5 | g.69419624G>T | CA359922465 | MARVELD2 | c.239G>T (p.Arg80Leu) | |
| 5 | g.69419625C>A | CA445083279 | MARVELD2 | c.240C>A (p.Arg80=) | |
| 5 | g.69419625C>G | CA445083282 | MARVELD2 | c.240C>G (p.Arg80=) | |
| 5 | g.69419625C>T | CA445083281 | MARVELD2 | c.240C>T (p.Arg80=) | |
| 5 | g.69419626T>A | CA359922468 | MARVELD2 | c.241T>A (p.Phe81Ile) | |
| 5 | g.69419626T>C | CA359922471 | MARVELD2 | c.241T>C (p.Phe81Leu) | |
| 5 | g.69419626T>G | CA359922466 | MARVELD2 | c.241T>G (p.Phe81Val) | |
| 5 | g.69419627T>A | CA359922473 | MARVELD2 | c.242T>A (p.Phe81Tyr) | |
| 5 | g.69419627T>C | CA359922475 | MARVELD2 | c.242T>C (p.Phe81Ser) | |
| 5 | g.69419627T>G | CA359922477 | MARVELD2 | c.242T>G (p.Phe81Cys) | |
| 5 | g.69419628T>A | CA359922479 | MARVELD2 | c.243T>A (p.Phe81Leu) | |
| 5 | g.69419628T>C | CA445083286 | MARVELD2 | c.243T>C (p.Phe81=) | |
| 5 | g.69419628T>G | CA359922480 | MARVELD2 | c.243T>G (p.Phe81Leu) | |
| 5 | g.69419629G>A | CA359922486 | MARVELD2 | c.244G>A (p.Val82Ile) | |
| 5 | g.69419629G>C | CA359922484 | MARVELD2 | c.244G>C (p.Val82Leu) | |
| 5 | g.69419629G>T | CA359922482 | MARVELD2 | c.244G>T (p.Val82Phe) | |
| 5 | g.69419630T>A | CA359922488 | MARVELD2 | c.245T>A (p.Val82Asp) | |
| 5 | g.69419630T>C | CA359922491 | MARVELD2 | c.245T>C (p.Val82Ala) | |
| 5 | g.69419630T>G | CA359922493 | MARVELD2 | c.245T>G (p.Val82Gly) | |
| 5 | g.69419631C>A | CA445083291 | MARVELD2 | c.246C>A (p.Val82=) | |
| 5 | g.69419631C>G | CA445083292 | MARVELD2 | c.246C>G (p.Val82=) | |
| 5 | g.69419631C>T | CA445083295 | MARVELD2 | c.246C>T (p.Val82=) | |
| 5 | g.69419632C>A | CA119991123 | MARVELD2 | c.247C>A (p.Pro83Thr) | dbSNP |
| 5 | g.69419632C= | CA1553915951 | MARVELD2 | c.247C= (p.Pro83=) | |
| 5 | g.69419632C>G | CA359922497 | MARVELD2 | c.247C>G (p.Pro83Ala) | |
| 5 | g.69419632C>T | CA359922499 | MARVELD2 | c.247C>T (p.Pro83Ser) | |
| 5 | g.69419633C>A | CA359922502 | MARVELD2 | c.248C>A (p.Pro83His) | |
| 5 | g.69419633C>G | CA359922508 | MARVELD2 | c.248C>G (p.Pro83Arg) | |
| 5 | g.69419633C>T | CA359922505 | MARVELD2 | c.248C>T (p.Pro83Leu) | |
| 5 | g.69419634T>A | CA445083296 | MARVELD2 | c.249T>A (p.Pro83=) | |
| 5 | g.69419634T>C | CA445083297 | MARVELD2 | c.249T>C (p.Pro83=) | |
| 5 | g.69419634T>G | CA445083298 | MARVELD2 | c.249T>G (p.Pro83=) | |
| 5 | g.69419635G>A | CA359922512 | MARVELD2 | c.250G>A (p.Asp84Asn) | |
| 5 | g.69419635G>C | CA359922514 | MARVELD2 | c.250G>C (p.Asp84His) | gnomAD v4 |
| 5 | g.69419635G>T | CA359922516 | MARVELD2 | c.250G>T (p.Asp84Tyr) | |
| 5 | g.69419636A>C | CA359922519 | MARVELD2 | c.251A>C (p.Asp84Ala) | |
| 5 | g.69419636A>G | CA359922522 | MARVELD2 | c.251A>G (p.Asp84Gly) | |
| 5 | g.69419636A>T | CA359922525 | MARVELD2 | c.251A>T (p.Asp84Val) | |
| 5 | g.69419637C>A | CA359922533 | MARVELD2 | c.252C>A (p.Asp84Glu) | |
| 5 | g.69419637C>G | CA359922536 | MARVELD2 | c.252C>G (p.Asp84Glu) | |
| 5 | g.69419637C>T | CA445083305 | MARVELD2 | c.252C>T (p.Asp84=) | |
| 5 | g.69419638T>A | CA359922539 | MARVELD2 | c.253T>A (p.Ser85Thr) | |
| 5 | g.69419638T>C | CA359922542 | MARVELD2 | c.253T>C (p.Ser85Pro) | |
| 5 | g.69419638T>G | CA359922544 | MARVELD2 | c.253T>G (p.Ser85Ala) | |
| 5 | g.69419639C>A | CA359922554 | MARVELD2 | c.254C>A (p.Ser85Tyr) | |
| 5 | g.69419639C>G | CA359922552 | MARVELD2 | c.254C>G (p.Ser85Cys) | |
| 5 | g.69419639C>T | CA359922549 | MARVELD2 | c.254C>T (p.Ser85Phe) | gnomAD v4 |
| 5 | g.69419640C>A | CA445083307 | MARVELD2 | c.255C>A (p.Ser85=) | |
| 5 | g.69419640C>G | CA445083308 | MARVELD2 | c.255C>G (p.Ser85=) | gnomAD v4 |
| 5 | g.69419640C>T | CA445083310 | MARVELD2 | c.255C>T (p.Ser85=) | gnomAD v4 |
| 5 | g.69419641T>A | CA359922556 | MARVELD2 | c.256T>A (p.Trp86Arg) | |
| 5 | g.69419641T>C | CA359922560 | MARVELD2 | c.256T>C (p.Trp86Arg) | gnomAD v4 |
| 5 | g.69419641T>G | CA359922558 | MARVELD2 | c.256T>G (p.Trp86Gly) | |
| 5 | g.69419642G>A | CA359922566 | MARVELD2 | c.257G>A (p.Trp86Ter) | |
| 5 | g.69419642G>C | CA359922568 | MARVELD2 | c.257G>C (p.Trp86Ser) | dbSNP |
| 5 | g.69419642G= | CA1553915954 | MARVELD2 | c.257G= (p.Trp86=) | |
| 5 | g.69419642G>T | CA359922571 | MARVELD2 | c.257G>T (p.Trp86Leu) | |
| 5 | g.69419643G>A | CA359922575 | MARVELD2 | c.258G>A (p.Trp86Ter) | |
| 5 | g.69419643G>C | CA359922576 | MARVELD2 | c.258G>C (p.Trp86Cys) | |
| 5 | g.69419643G>T | CA359922579 | MARVELD2 | c.258G>T (p.Trp86Cys) | |
| 5 | g.69419644A= | CA1553915958 | MARVELD2 | c.259A= (p.Lys87=) | |
| 5 | g.69419644A>C | CA359922581 | MARVELD2 | c.259A>C (p.Lys87Gln) | |
| 5 | g.69419644A>G | CA359922584 | MARVELD2 | c.259A>G (p.Lys87Glu) | dbSNP gnomAD v4 |
| 5 | g.69419644A>T | CA3294005 | MARVELD2 | c.259A>T (p.Lys87Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419645A>C | CA359922588 | MARVELD2 | c.260A>C (p.Lys87Thr) | |
| 5 | g.69419645A>G | CA359922591 | MARVELD2 | c.260A>G (p.Lys87Arg) | |
| 5 | g.69419645A>T | CA359922593 | MARVELD2 | c.260A>T (p.Lys87Met) | |
| 5 | g.69419646G>A | CA445083325 | MARVELD2 | c.261G>A (p.Lys87=) | dbSNP |
| 5 | g.69419646G>C | CA3294006 | MARVELD2 | c.261G>C (p.Lys87Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419646G= | CA1553915961 | MARVELD2 | c.261G= (p.Lys87=) | |
| 5 | g.69419646G>T | CA359922599 | MARVELD2 | c.261G>T (p.Lys87Asn) | COSMIC |
| 5 | g.69419647A>C | CA359922602 | MARVELD2 | c.262A>C (p.Asn88His) | |
| 5 | g.69419647A>G | CA359922604 | MARVELD2 | c.262A>G (p.Asn88Asp) | |
| 5 | g.69419647A>T | CA359922607 | MARVELD2 | c.262A>T (p.Asn88Tyr) | |
| 5 | g.69419648A= | CA1553915967 | MARVELD2 | c.263A= (p.Asn88=) | |
| 5 | g.69419648A>C | CA359922609 | MARVELD2 | c.263A>C (p.Asn88Thr) | |
| 5 | g.69419648A>G | CA3294007 | MARVELD2 | c.263A>G (p.Asn88Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419648A>T | CA359922612 | MARVELD2 | c.263A>T (p.Asn88Ile) | |
| 5 | g.69419649C>A | CA359922615 | MARVELD2 | c.264C>A (p.Asn88Lys) | dbSNP |
| 5 | g.69419649C= | CA1553915970 | MARVELD2 | c.264C= (p.Asn88=) | |
| 5 | g.69419649C>G | CA359922618 | MARVELD2 | c.264C>G (p.Asn88Lys) | |
| 5 | g.69419649C>T | CA445083333 | MARVELD2 | c.264C>T (p.Asn88=) | |
| 5 | g.69419650T>A | CA359922624 | MARVELD2 | c.265T>A (p.Phe89Ile) | gnomAD v4 |
| 5 | g.69419650T>C | CA359922627 | MARVELD2 | c.265T>C (p.Phe89Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419650T>G | CA359922630 | MARVELD2 | c.265T>G (p.Phe89Val) | |
| 5 | g.69419650T= | CA1553915974 | MARVELD2 | c.265T= (p.Phe89=) |