| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.69420410T>A | CA359925188 | MARVELD2 | c.1025T>A (p.Ile342Lys) c.726-49T>A (n.726-49T>A) | |
| 5 | g.69420410T>C | CA359925189 | MARVELD2 | c.1025T>C (p.Ile342Thr) c.726-49T>C (n.726-49T>C) | |
| 5 | g.69420410T>G | CA359925190 | MARVELD2 | c.1025T>G (p.Ile342Arg) c.726-49T>G (n.726-49T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420410T= | CA1553917341 | MARVELD2 | c.1025T= (p.Ile342=) c.726-49T= (n.726-49T=) | |
| 5 | g.69420411A>C | CA445083879 | MARVELD2 | c.1026A>C (p.Ile342=) c.726-48A>C (n.726-48A>C) | |
| 5 | g.69420411A>G | CA359925191 | MARVELD2 | c.1026A>G (p.Ile342Met) c.726-48A>G (n.726-48A>G) | gnomAD v4 |
| 5 | g.69420411A>T | CA445083880 | MARVELD2 | c.1026A>T (p.Ile342=) c.726-48A>T (n.726-48A>T) | |
| 5 | g.69420412G>A | CA359925192 | MARVELD2 | c.1027G>A (p.Ala343Thr) c.726-47G>A (n.726-47G>A) | |
| 5 | g.69420412G>C | CA359925193 | MARVELD2 | c.1027G>C (p.Ala343Pro) c.726-47G>C (n.726-47G>C) | gnomAD v4 |
| 5 | g.69420412G>T | CA359925194 | MARVELD2 | c.1027G>T (p.Ala343Ser) c.726-47G>T (n.726-47G>T) | |
| 5 | g.69420413C>A | CA359925195 | MARVELD2 | c.1028C>A (p.Ala343Asp) c.726-46C>A (n.726-46C>A) | |
| 5 | g.69420413C= | CA1553917344 | MARVELD2 | c.1028C= (p.Ala343=) c.726-46C= (n.726-46C=) | |
| 5 | g.69420413C>G | CA359925196 | MARVELD2 | c.1028C>G (p.Ala343Gly) c.726-46C>G (n.726-46C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420413C>T | CA359925197 | MARVELD2 | c.1028C>T (p.Ala343Val) c.726-46C>T (n.726-46C>T) | |
| 5 | g.69420414T>A | CA445083885 | MARVELD2 | c.1029T>A (p.Ala343=) c.726-45T>A (n.726-45T>A) | dbSNP |
| 5 | g.69420414T>C | CA445083886 | MARVELD2 | c.1029T>C (p.Ala343=) c.726-45T>C (n.726-45T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420414T>G | CA445083887 | MARVELD2 | c.1029T>G (p.Ala343=) c.726-45T>G (n.726-45T>G) | |
| 5 | g.69420414T= | CA1553917346 | MARVELD2 | c.1029T= (p.Ala343=) c.726-45T= (n.726-45T=) | |
| 5 | g.69420415G>A | CA3294160 | MARVELD2 | c.1030G>A (p.Ala344Thr) c.726-44G>A (n.726-44G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420415G>C | CA359925199 | MARVELD2 | c.1030G>C (p.Ala344Pro) c.726-44G>C (n.726-44G>C) | |
| 5 | g.69420415G= | CA1553917349 | MARVELD2 | c.1030G= (p.Ala344=) c.726-44G= (n.726-44G=) | |
| 5 | g.69420415G>T | CA359925198 | MARVELD2 | c.1030G>T (p.Ala344Ser) c.726-44G>T (n.726-44G>T) | |
| 5 | g.69420416C>A | CA359925200 | MARVELD2 | c.1031C>A (p.Ala344Glu) c.726-43C>A (n.726-43C>A) | |
| 5 | g.69420416C>G | CA359925201 | MARVELD2 | c.1031C>G (p.Ala344Gly) c.726-43C>G (n.726-43C>G) | |
| 5 | g.69420416C>T | CA359925202 | MARVELD2 | c.1031C>T (p.Ala344Val) c.726-43C>T (n.726-43C>T) | |
| 5 | g.69420417A>C | CA445083891 | MARVELD2 | c.1032A>C (p.Ala344=) c.726-42A>C (n.726-42A>C) | |
| 5 | g.69420417A>G | CA445083893 | MARVELD2 | c.1032A>G (p.Ala344=) c.726-42A>G (n.726-42A>G) | |
| 5 | g.69420417A>T | CA445083894 | MARVELD2 | c.1032A>T (p.Ala344=) c.726-42A>T (n.726-42A>T) | |
| 5 | g.69420418A= | CA1553917353 | MARVELD2 | c.1033A= (p.Met345=) c.726-41A= (n.726-41A=) | |
| 5 | g.69420418A>C | CA359925203 | MARVELD2 | c.1033A>C (p.Met345Leu) c.726-41A>C (n.726-41A>C) | |
| 5 | g.69420418A>G | CA3294161 | MARVELD2 | c.1033A>G (p.Met345Val) c.726-41A>G (n.726-41A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420418A>T | CA359925204 | MARVELD2 | c.1033A>T (p.Met345Leu) c.726-41A>T (n.726-41A>T) | |
| 5 | g.69420419T>A | CA359925205 | MARVELD2 | c.1034T>A (p.Met345Lys) c.726-40T>A (n.726-40T>A) | |
| 5 | g.69420419T>C | CA359925206 | MARVELD2 | c.1034T>C (p.Met345Thr) c.726-40T>C (n.726-40T>C) | |
| 5 | g.69420419T>G | CA359925207 | MARVELD2 | c.1034T>G (p.Met345Arg) c.726-40T>G (n.726-40T>G) | |
| 5 | g.69420420G>A | CA359925208 | MARVELD2 | c.1035G>A (p.Met345Ile) c.726-39G>A (n.726-39G>A) | gnomAD v4 |
| 5 | g.69420420G>C | CA359925209 | MARVELD2 | c.1035G>C (p.Met345Ile) c.726-39G>C (n.726-39G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420420G= | CA1553917357 | MARVELD2 | c.1035G= (p.Met345=) c.726-39G= (n.726-39G=) | |
| 5 | g.69420420G>T | CA359925210 | MARVELD2 | c.1035G>T (p.Met345Ile) c.726-39G>T (n.726-39G>T) | |
| 5 | g.69420421A>C | CA359925212 | MARVELD2 | c.1036A>C (p.Ile346Leu) c.726-38A>C (n.726-38A>C) | |
| 5 | g.69420421A>G | CA359925213 | MARVELD2 | c.1036A>G (p.Ile346Val) c.726-38A>G (n.726-38A>G) | |
| 5 | g.69420421A>T | CA359925211 | MARVELD2 | c.1036A>T (p.Ile346Phe) c.726-38A>T (n.726-38A>T) | |
| 5 | g.69420422del | CA2506229905 | MARVELD2 | c.1037del (p.Ile346ThrfsTer7) c.726-37del (n.726-37del) | |
| 5 | g.69420422T>A | CA359925214 | MARVELD2 | c.1037T>A (p.Ile346Asn) c.726-37T>A (n.726-37T>A) | |
| 5 | g.69420422T>C | CA359925215 | MARVELD2 | c.1037T>C (p.Ile346Thr) c.726-37T>C (n.726-37T>C) | |
| 5 | g.69420422T>G | CA359925216 | MARVELD2 | c.1037T>G (p.Ile346Ser) c.726-37T>G (n.726-37T>G) | |
| 5 | g.69420423C>A | CA445083904 | MARVELD2 | c.1038C>A (p.Ile346=) c.726-36C>A (n.726-36C>A) | |
| 5 | g.69420423C>G | CA359925217 | MARVELD2 | c.1038C>G (p.Ile346Met) c.726-36C>G (n.726-36C>G) | |
| 5 | g.69420423C>T | CA445083907 | MARVELD2 | c.1038C>T (p.Ile346=) c.726-36C>T (n.726-36C>T) | |
| 5 | g.69420424T>A | CA359925220 | MARVELD2 | c.1039T>A (p.Phe347Ile) c.726-35T>A (n.726-35T>A) | |
| 5 | g.69420424T>C | CA359925219 | MARVELD2 | c.1039T>C (p.Phe347Leu) c.726-35T>C (n.726-35T>C) | |
| 5 | g.69420424T>G | CA359925218 | MARVELD2 | c.1039T>G (p.Phe347Val) c.726-35T>G (n.726-35T>G) | |
| 5 | g.69420425T>A | CA359925221 | MARVELD2 | c.1040T>A (p.Phe347Tyr) c.726-34T>A (n.726-34T>A) | |
| 5 | g.69420425T>C | CA359925223 | MARVELD2 | c.1040T>C (p.Phe347Ser) c.726-34T>C (n.726-34T>C) | COSMIC |
| 5 | g.69420425T>G | CA359925224 | MARVELD2 | c.1040T>G (p.Phe347Cys) c.726-34T>G (n.726-34T>G) | |
| 5 | g.69420426C>A | CA359925226 | MARVELD2 | c.1041C>A (p.Phe347Leu) c.726-33C>A (n.726-33C>A) | |
| 5 | g.69420426C>G | CA359925227 | MARVELD2 | c.1041C>G (p.Phe347Leu) c.726-33C>G (n.726-33C>G) | |
| 5 | g.69420426C>T | CA445083915 | MARVELD2 | c.1041C>T (p.Phe347=) c.726-33C>T (n.726-33C>T) | |
| 5 | g.69420427C>A | CA359925231 | MARVELD2 | c.1042C>A (p.Leu348Met) c.726-32C>A (n.726-32C>A) | |
| 5 | g.69420427C>G | CA359925232 | MARVELD2 | c.1042C>G (p.Leu348Val) c.726-32C>G (n.726-32C>G) | |
| 5 | g.69420427C>T | CA445083916 | MARVELD2 | c.1042C>T (p.Leu348=) c.726-32C>T (n.726-32C>T) | |
| 5 | g.69420428T>A | CA359925235 | MARVELD2 | c.1043T>A (p.Leu348Gln) c.726-31T>A (n.726-31T>A) | |
| 5 | g.69420428T>C | CA359925237 | MARVELD2 | c.1043T>C (p.Leu348Pro) c.726-31T>C (n.726-31T>C) | |
| 5 | g.69420428T>G | CA359925233 | MARVELD2 | c.1043T>G (p.Leu348Arg) c.726-31T>G (n.726-31T>G) | |
| 5 | g.69420429G>A | CA445083918 | MARVELD2 | c.1044G>A (p.Leu348=) c.726-30G>A (n.726-30G>A) | gnomAD v4 |
| 5 | g.69420429G>C | CA3294162 | MARVELD2 | c.1044G>C (p.Leu348=) c.726-30G>C (n.726-30G>C) | dbSNP ExAC gnomAD v2 |
| 5 | g.69420429G= | CA1553917360 | MARVELD2 | c.1044G= (p.Leu348=) c.726-30G= (n.726-30G=) | |
| 5 | g.69420429G>T | CA445083919 | MARVELD2 | c.1044G>T (p.Leu348=) c.726-30G>T (n.726-30G>T) | |
| 5 | g.69420430T>A | CA359925242 | MARVELD2 | c.1045T>A (p.Phe349Ile) c.726-29T>A (n.726-29T>A) | |
| 5 | g.69420430T>C | CA359925239 | MARVELD2 | c.1045T>C (p.Phe349Leu) c.726-29T>C (n.726-29T>C) | |
| 5 | g.69420430T>G | CA359925240 | MARVELD2 | c.1045T>G (p.Phe349Val) c.726-29T>G (n.726-29T>G) | |
| 5 | g.69420431T>A | CA359925243 | MARVELD2 | c.1046T>A (p.Phe349Tyr) c.726-28T>A (n.726-28T>A) | |
| 5 | g.69420431T>C | CA359925244 | MARVELD2 | c.1046T>C (p.Phe349Ser) c.726-28T>C (n.726-28T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420431T>G | CA359925246 | MARVELD2 | c.1046T>G (p.Phe349Cys) c.726-28T>G (n.726-28T>G) | |
| 5 | g.69420431T= | CA1553917363 | MARVELD2 | c.1046T= (p.Phe349=) c.726-28T= (n.726-28T=) | |
| 5 | g.69420432T>A | CA359925247 | MARVELD2 | c.1047T>A (p.Phe349Leu) c.726-27T>A (n.726-27T>A) | |
| 5 | g.69420432T>C | CA445083927 | MARVELD2 | c.1047T>C (p.Phe349=) c.726-27T>C (n.726-27T>C) | |
| 5 | g.69420432T>G | CA359925249 | MARVELD2 | c.1047T>G (p.Phe349Leu) c.726-27T>G (n.726-27T>G) | |
| 5 | g.69420433G>A | CA359925254 | MARVELD2 | c.1048G>A (p.Val350Ile) c.726-26G>A (n.726-26G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420433G>C | CA359925251 | MARVELD2 | c.1048G>C (p.Val350Leu) c.726-26G>C (n.726-26G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420433G= | CA1553917365 | MARVELD2 | c.1048G= (p.Val350=) c.726-26G= (n.726-26G=) | |
| 5 | g.69420433G>T | CA359925253 | MARVELD2 | c.1048G>T (p.Val350Phe) c.726-26G>T (n.726-26G>T) | |
| 5 | g.69420434T>A | CA359925256 | MARVELD2 | c.1049T>A (p.Val350Asp) c.726-25T>A (n.726-25T>A) | |
| 5 | g.69420434T>C | CA10622116 | MARVELD2 | c.1049T>C (p.Val350Ala) c.726-25T>C (n.726-25T>C) | ClinVar dbSNP |
| 5 | g.69420434T>G | CA359925259 | MARVELD2 | c.1049T>G (p.Val350Gly) c.726-25T>G (n.726-25T>G) | |
| 5 | g.69420434T= | CA1553917370 | MARVELD2 | c.1049T= (p.Val350=) c.726-25T= (n.726-25T=) | |
| 5 | g.69420435C>A | CA445083928 | MARVELD2 | c.1050C>A (p.Val350=) c.726-24C>A (n.726-24C>A) | |
| 5 | g.69420435C= | CA1553917376 | MARVELD2 | c.1050C= (p.Val350=) c.726-24C= (n.726-24C=) | |
| 5 | g.69420435C>G | CA445083929 | MARVELD2 | c.1050C>G (p.Val350=) c.726-24C>G (n.726-24C>G) | dbSNP |
| 5 | g.69420435C>T | CA445083930 | MARVELD2 | c.1050C>T (p.Val350=) c.726-24C>T (n.726-24C>T) | gnomAD v4 |
| 5 | g.69420436A>C | CA359925261 | MARVELD2 | c.1051A>C (p.Thr351Pro) c.726-23A>C (n.726-23A>C) | |
| 5 | g.69420436A>G | CA359925263 | MARVELD2 | c.1051A>G (p.Thr351Ala) c.726-23A>G (n.726-23A>G) | |
| 5 | g.69420436A>T | CA359925264 | MARVELD2 | c.1051A>T (p.Thr351Ser) c.726-23A>T (n.726-23A>T) | |
| 5 | g.69420437C>A | CA359925265 | MARVELD2 | c.1052C>A (p.Thr351Asn) c.726-22C>A (n.726-22C>A) | |
| 5 | g.69420437C>G | CA359925268 | MARVELD2 | c.1052C>G (p.Thr351Ser) c.726-22C>G (n.726-22C>G) | |
| 5 | g.69420437C>T | CA359925266 | MARVELD2 | c.1052C>T (p.Thr351Ile) c.726-22C>T (n.726-22C>T) | |
| 5 | g.69420438C>A | CA445083938 | MARVELD2 | c.1053C>A (p.Thr351=) c.726-21C>A (n.726-21C>A) | |
| 5 | g.69420438C>G | CA445083939 | MARVELD2 | c.1053C>G (p.Thr351=) c.726-21C>G (n.726-21C>G) | |
| 5 | g.69420438C>T | CA445083940 | MARVELD2 | c.1053C>T (p.Thr351=) c.726-21C>T (n.726-21C>T) | |
| 5 | g.69420439A>C | CA359925269 | MARVELD2 | c.1054A>C (p.Met352Leu) c.726-20A>C (n.726-20A>C) | |
| 5 | g.69420439A>G | CA359925271 | MARVELD2 | c.1054A>G (p.Met352Val) c.726-20A>G (n.726-20A>G) | gnomAD v4 |
| 5 | g.69420439A>T | CA359925272 | MARVELD2 | c.1054A>T (p.Met352Leu) c.726-20A>T (n.726-20A>T) | |
| 5 | g.69420440T>A | CA359925273 | MARVELD2 | c.1055T>A (p.Met352Lys) c.726-19T>A (n.726-19T>A) | |
| 5 | g.69420440T>C | CA359925275 | MARVELD2 | c.1055T>C (p.Met352Thr) c.726-19T>C (n.726-19T>C) | COSMIC |
| 5 | g.69420440T>G | CA359925277 | MARVELD2 | c.1055T>G (p.Met352Arg) c.726-19T>G (n.726-19T>G) | |
| 5 | g.69420441G>A | CA359925279 | MARVELD2 | c.1056G>A (p.Met352Ile) c.726-18G>A (n.726-18G>A) | gnomAD v4 |
| 5 | g.69420441G>C | CA359925281 | MARVELD2 | c.1056G>C (p.Met352Ile) c.726-18G>C (n.726-18G>C) | |
| 5 | g.69420441G>T | CA359925283 | MARVELD2 | c.1056G>T (p.Met352Ile) c.726-18G>T (n.726-18G>T) | |
| 5 | g.69420442A= | CA1553917378 | MARVELD2 | c.1057A= (p.Ile353=) c.726-17A= (n.726-17A=) | |
| 5 | g.69420442A>C | CA359925285 | MARVELD2 | c.1057A>C (p.Ile353Leu) c.726-17A>C (n.726-17A>C) | |
| 5 | g.69420442A>G | CA359925286 | MARVELD2 | c.1057A>G (p.Ile353Val) c.726-17A>G (n.726-17A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420442A>T | CA359925288 | MARVELD2 | c.1057A>T (p.Ile353Leu) c.726-17A>T (n.726-17A>T) | |
| 5 | g.69420443T>A | CA359925291 | MARVELD2 | c.1058T>A (p.Ile353Lys) c.726-16T>A (n.726-16T>A) | |
| 5 | g.69420443T>C | CA359925295 | MARVELD2 | c.1058T>C (p.Ile353Thr) c.726-16T>C (n.726-16T>C) | |
| 5 | g.69420443T>G | CA359925293 | MARVELD2 | c.1058T>G (p.Ile353Arg) c.726-16T>G (n.726-16T>G) | dbSNP |
| 5 | g.69420443T= | CA1553917380 | MARVELD2 | c.1058T= (p.Ile353=) c.726-16T= (n.726-16T=) | |
| 5 | g.69420443dup | CA2674131670 | MARVELD2 | c.1058dup (p.Val354SerfsTer5) c.726-16dup (n.726-16dup) | dbSNP gnomAD v4 |
| 5 | g.69420444A= | CA1553917385 | MARVELD2 | c.1059A= (p.Ile353=) c.726-15A= (n.726-15A=) | |
| 5 | g.69420444A>C | CA445083949 | MARVELD2 | c.1059A>C (p.Ile353=) c.726-15A>C (n.726-15A>C) | |
| 5 | g.69420444A>G | CA176720 | MARVELD2 | c.1059A>G (p.Ile353Met) c.726-15A>G (n.726-15A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420444A>T | CA445083953 | MARVELD2 | c.1059A>T (p.Ile353=) c.726-15A>T (n.726-15A>T) | |
| 5 | g.69420445G>A | CA359925297 | MARVELD2 | c.1060G>A (p.Val354Ile) c.726-14G>A (n.726-14G>A) | |
| 5 | g.69420445G>C | CA359925299 | MARVELD2 | c.1060G>C (p.Val354Leu) c.726-14G>C (n.726-14G>C) | |
| 5 | g.69420445G>T | CA359925300 | MARVELD2 | c.1060G>T (p.Val354Phe) c.726-14G>T (n.726-14G>T) | |
| 5 | g.69420446T>A | CA359925302 | MARVELD2 | c.1061T>A (p.Val354Asp) c.726-13T>A (n.726-13T>A) | gnomAD v4 |
| 5 | g.69420446T>C | CA359925304 | MARVELD2 | c.1061T>C (p.Val354Ala) c.726-13T>C (n.726-13T>C) | dbSNP |
| 5 | g.69420446T>G | CA359925305 | MARVELD2 | c.1061T>G (p.Val354Gly) c.726-13T>G (n.726-13T>G) | |
| 5 | g.69420446T= | CA1553917391 | MARVELD2 | c.1061T= (p.Val354=) c.726-13T= (n.726-13T=) | |
| 5 | g.69420447T>A | CA445083960 | MARVELD2 | c.1062T>A (p.Val354=) c.726-12T>A (n.726-12T>A) | |
| 5 | g.69420447T>C | CA445083959 | MARVELD2 | c.1062T>C (p.Val354=) c.726-12T>C (n.726-12T>C) | |
| 5 | g.69420447T>G | CA445083961 | MARVELD2 | c.1062T>G (p.Val354=) c.726-12T>G (n.726-12T>G) | dbSNP |
| 5 | g.69420448T>A | CA359925307 | MARVELD2 | c.1063T>A (p.Tyr355Asn) c.726-11T>A (n.726-11T>A) | |
| 5 | g.69420448T>C | CA359925309 | MARVELD2 | c.1063T>C (p.Tyr355His) c.726-11T>C (n.726-11T>C) | |
| 5 | g.69420448T>G | CA359925310 | MARVELD2 | c.1063T>G (p.Tyr355Asp) c.726-11T>G (n.726-11T>G) | gnomAD v4 |
| 5 | g.69420449A>C | CA359925311 | MARVELD2 | c.1064A>C (p.Tyr355Ser) c.726-10A>C (n.726-10A>C) | |
| 5 | g.69420449A>G | CA359925312 | MARVELD2 | c.1064A>G (p.Tyr355Cys) c.726-10A>G (n.726-10A>G) | |
| 5 | g.69420449A>T | CA359925313 | MARVELD2 | c.1064A>T (p.Tyr355Phe) c.726-10A>T (n.726-10A>T) | gnomAD v4 |
| 5 | g.69420450T>A | CA359925316 | MARVELD2 | c.1065T>A (p.Tyr355Ter) c.726-9T>A (n.726-9T>A) | |
| 5 | g.69420450T>C | CA445083968 | MARVELD2 | c.1065T>C (p.Tyr355=) c.726-9T>C (n.726-9T>C) | |
| 5 | g.69420450T>G | CA359925315 | MARVELD2 | c.1065T>G (p.Tyr355Ter) c.726-9T>G (n.726-9T>G) | |
| 5 | g.69420451C>A | CA359925319 | MARVELD2 | c.1066C>A (p.Leu356Ile) c.726-8C>A (n.726-8C>A) | |
| 5 | g.69420451C>G | CA359925320 | MARVELD2 | c.1066C>G (p.Leu356Val) c.726-8C>G (n.726-8C>G) | |
| 5 | g.69420451C>T | CA359925322 | MARVELD2 | c.1066C>T (p.Leu356Phe) c.726-8C>T (n.726-8C>T) | COSMIC |
| 5 | g.69420452T>A | CA359925323 | MARVELD2 | c.1067T>A (p.Leu356His) c.726-7T>A (n.726-7T>A) | |
| 5 | g.69420452T>C | CA359925324 | MARVELD2 | c.1067T>C (p.Leu356Pro) c.726-7T>C (n.726-7T>C) | |
| 5 | g.69420452T>G | CA359925325 | MARVELD2 | c.1067T>G (p.Leu356Arg) c.726-7T>G (n.726-7T>G) | |
| 5 | g.69420453C>A | CA445083972 | MARVELD2 | c.1068C>A (p.Leu356=) c.726-6C>A (n.726-6C>A) | |
| 5 | g.69420453C>G | CA445083973 | MARVELD2 | c.1068C>G (p.Leu356=) c.726-6C>G (n.726-6C>G) | |
| 5 | g.69420453C>T | CA445083974 | MARVELD2 | c.1068C>T (p.Leu356=) c.726-6C>T (n.726-6C>T) | gnomAD v4 |
| 5 | g.69420454A>C | CA359925327 | MARVELD2 | c.1069A>C (p.Ile357Leu) c.726-5A>C (n.726-5A>C) | gnomAD v4 |
| 5 | g.69420454A>G | CA359925329 | MARVELD2 | c.1069A>G (p.Ile357Val) c.726-5A>G (n.726-5A>G) | gnomAD v4 |
| 5 | g.69420454A>T | CA359925330 | MARVELD2 | c.1069A>T (p.Ile357Phe) c.726-5A>T (n.726-5A>T) | |
| 5 | g.69420455T>A | CA359925332 | MARVELD2 | c.1070T>A (p.Ile357Asn) c.726-4T>A (n.726-4T>A) | |
| 5 | g.69420455T>C | CA359925334 | MARVELD2 | c.1070T>C (p.Ile357Thr) c.726-4T>C (n.726-4T>C) | dbSNP gnomAD v4 |
| 5 | g.69420455T>G | CA359925336 | MARVELD2 | c.1070T>G (p.Ile357Ser) c.726-4T>G (n.726-4T>G) | |
| 5 | g.69420455T= | CA1553917394 | MARVELD2 | c.1070T= (p.Ile357=) c.726-4T= (n.726-4T=) | |
| 5 | g.69420456T>A | CA445083975 | MARVELD2 | c.1071T>A (p.Ile357=) c.726-3T>A (n.726-3T>A) | |
| 5 | g.69420456T>C | CA445083976 | MARVELD2 | c.1071T>C (p.Ile357=) c.726-3T>C (n.726-3T>C) | COSMIC |
| 5 | g.69420456T>G | CA359925338 | MARVELD2 | c.1071T>G (p.Ile357Met) c.726-3T>G (n.726-3T>G) | |
| 5 | g.69420457A>C | CA359925340 | MARVELD2 | c.1072A>C (p.Ser358Arg) c.726-2A>C (n.726-2A>C) | |
| 5 | g.69420457A>G | CA359925342 | MARVELD2 | c.1072A>G (p.Ser358Gly) c.726-2A>G (n.726-2A>G) | |
| 5 | g.69420457A>T | CA359925341 | MARVELD2 | c.1072A>T (p.Ser358Cys) c.726-2A>T (n.726-2A>T) | |
| 5 | g.69420458G>A | CA359925344 | MARVELD2 | c.1073G>A (p.Ser358Asn) c.726-1G>A (n.726-1G>A) | gnomAD v4 |
| 5 | g.69420458G>C | CA359925346 | MARVELD2 | c.1073G>C (p.Ser358Thr) c.726-1G>C (n.726-1G>C) | |
| 5 | g.69420458G>T | CA359925345 | MARVELD2 | c.1073G>T (p.Ser358Ile) c.726-1G>T (n.726-1G>T) | |
| 5 | g.69420459T>A | CA359925348 | MARVELD2 | c.1074T>A (p.Ser358Arg) c.726T>A (p.Ile242=) | |
| 5 | g.69420459T>C | CA445083981 | MARVELD2 | c.1074T>C (p.Ser358=) c.726T>C (p.Ile242=) | |
| 5 | g.69420459T>G | CA359925350 | MARVELD2 | c.1074T>G (p.Ser358Arg) c.726T>G (p.Ile242Met) | |
| 5 | g.69420460G>A | CA359925352 | MARVELD2 | c.1075G>A (p.Ala359Thr) c.727G>A (p.Ala243Thr) | |
| 5 | g.69420460G>C | CA359925353 | MARVELD2 | c.1075G>C (p.Ala359Pro) c.727G>C (p.Ala243Pro) | |
| 5 | g.69420460G>T | CA359925355 | MARVELD2 | c.1075G>T (p.Ala359Ser) c.727G>T (p.Ala243Ser) | |
| 5 | g.69420461C>A | CA359925363 | MARVELD2 | c.1076C>A (p.Ala359Asp) c.728C>A (p.Ala243Asp) | |
| 5 | g.69420461C= | CA1553917397 | MARVELD2 | c.1076C= (p.Ala359=) c.728C= (p.Ala243=) | |
| 5 | g.69420461C>G | CA359925364 | MARVELD2 | c.1076C>G (p.Ala359Gly) c.728C>G (p.Ala243Gly) | |
| 5 | g.69420461C>T | CA359925365 | MARVELD2 | c.1076C>T (p.Ala359Val) c.728C>T (p.Ala243Val) | dbSNP |
| 5 | g.69420462T>A | CA445083985 | MARVELD2 | c.1077T>A (p.Ala359=) c.729T>A (p.Ala243=) | |
| 5 | g.69420462T>C | CA445083984 | MARVELD2 | c.1077T>C (p.Ala359=) c.729T>C (p.Ala243=) | |
| 5 | g.69420462T>G | CA445083983 | MARVELD2 | c.1077T>G (p.Ala359=) c.729T>G (p.Ala243=) | |
| 5 | g.69420463T>A | CA359925366 | MARVELD2 | c.1078T>A (p.Leu360Met) c.730T>A (p.Leu244Met) | |
| 5 | g.69420463T>C | CA445083986 | MARVELD2 | c.1078T>C (p.Leu360=) c.730T>C (p.Leu244=) | |
| 5 | g.69420463T>G | CA359925367 | MARVELD2 | c.1078T>G (p.Leu360Val) c.730T>G (p.Leu244Val) | |
| 5 | g.69420464T>A | CA359925576 | MARVELD2 | c.1079T>A (p.Leu360Ter) c.731T>A (p.Leu244Ter) | |
| 5 | g.69420464T>C | CA3294163 | MARVELD2 | c.1079T>C (p.Leu360Ser) c.731T>C (p.Leu244Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420464T>G | CA359925577 | MARVELD2 | c.1079T>G (p.Leu360Trp) c.731T>G (p.Leu244Trp) | |
| 5 | g.69420464T= | CA1553917402 | MARVELD2 | c.1079T= (p.Leu360=) c.731T= (p.Leu244=) | |
| 5 | g.69420465G>A | CA444790603 | MARVELD2 | c.1080G>A (p.Leu360=) c.732G>A (p.Leu244=) | |
| 5 | g.69420465G>C | CA359925578 | MARVELD2 | c.1080G>C (p.Leu360Phe) c.732G>C (p.Leu244Phe) | |
| 5 | g.69420465G>T | CA359925579 | MARVELD2 | c.1080G>T (p.Leu360Phe) c.732G>T (p.Leu244Phe) | |
| 5 | g.69420466G>A | CA359925580 | MARVELD2 | c.1081G>A (p.Val361Ile) c.733G>A (p.Val245Ile) | dbSNP COSMIC |
| 5 | g.69420466G>C | CA359925581 | MARVELD2 | c.1081G>C (p.Val361Leu) c.733G>C (p.Val245Leu) | |
| 5 | g.69420466G= | CA1553917404 | MARVELD2 | c.1081G= (p.Val361=) c.733G= (p.Val245=) | |
| 5 | g.69420466G>T | CA359925582 | MARVELD2 | c.1081G>T (p.Val361Phe) c.733G>T (p.Val245Phe) | |
| 5 | g.69420467T>A | CA359925583 | MARVELD2 | c.1082T>A (p.Val361Asp) c.734T>A (p.Val245Asp) | gnomAD v4 |
| 5 | g.69420467T>C | CA359925584 | MARVELD2 | c.1082T>C (p.Val361Ala) c.734T>C (p.Val245Ala) | |
| 5 | g.69420467T>G | CA359925585 | MARVELD2 | c.1082T>G (p.Val361Gly) c.734T>G (p.Val245Gly) | gnomAD v4 |
| 5 | g.69420468T>A | CA444790605 | MARVELD2 | c.1083T>A (p.Val361=) c.735T>A (p.Val245=) | |
| 5 | g.69420468T>C | CA444790606 | MARVELD2 | c.1083T>C (p.Val361=) c.735T>C (p.Val245=) | |
| 5 | g.69420468T>G | CA444790607 | MARVELD2 | c.1083T>G (p.Val361=) c.735T>G (p.Val245=) | |
| 5 | g.69420469T>A | CA359925586 | MARVELD2 | c.1084T>A (p.Cys362Ser) c.736T>A (p.Cys246Ser) | |
| 5 | g.69420469T>C | CA359925587 | MARVELD2 | c.1084T>C (p.Cys362Arg) c.736T>C (p.Cys246Arg) | |
| 5 | g.69420469T>G | CA359925588 | MARVELD2 | c.1084T>G (p.Cys362Gly) c.736T>G (p.Cys246Gly) | |
| 5 | g.69420470G>A | CA359925589 | MARVELD2 | c.1085G>A (p.Cys362Tyr) c.737G>A (p.Cys246Tyr) | |
| 5 | g.69420470G>C | CA359925590 | MARVELD2 | c.1085G>C (p.Cys362Ser) c.737G>C (p.Cys246Ser) | gnomAD v4 |
| 5 | g.69420470G>T | CA359925591 | MARVELD2 | c.1085G>T (p.Cys362Phe) c.737G>T (p.Cys246Phe) | |
| 5 | g.69420471C>A | CA359925592 | MARVELD2 | c.1086C>A (p.Cys362Ter) c.738C>A (p.Cys246Ter) | |
| 5 | g.69420471C>G | CA359925593 | MARVELD2 | c.1086C>G (p.Cys362Trp) c.738C>G (p.Cys246Trp) | |
| 5 | g.69420471C>T | CA444790609 | MARVELD2 | c.1086C>T (p.Cys362=) c.738C>T (p.Cys246=) | |
| 5 | g.69420472C>A | CA359925594 | MARVELD2 | c.1087C>A (p.Leu363Ile) c.739C>A (p.Leu247Ile) | |
| 5 | g.69420472C>G | CA359925595 | MARVELD2 | c.1087C>G (p.Leu363Val) c.739C>G (p.Leu247Val) | |
| 5 | g.69420472C>T | CA444790610 | MARVELD2 | c.1087C>T (p.Leu363=) c.739C>T (p.Leu247=) | |
| 5 | g.69420473T>A | CA359925596 | MARVELD2 | c.1088T>A (p.Leu363Gln) c.740T>A (p.Leu247Gln) | |
| 5 | g.69420473T>C | CA359925597 | MARVELD2 | c.1088T>C (p.Leu363Pro) c.740T>C (p.Leu247Pro) | |
| 5 | g.69420473T>G | CA359925598 | MARVELD2 | c.1088T>G (p.Leu363Arg) c.740T>G (p.Leu247Arg) | |
| 5 | g.69420474A>C | CA444790611 | MARVELD2 | c.1089A>C (p.Leu363=) c.741A>C (p.Leu247=) | |
| 5 | g.69420474A>G | CA444790612 | MARVELD2 | c.1089A>G (p.Leu363=) c.741A>G (p.Leu247=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.69420474A>T | CA444790613 | MARVELD2 | c.1089A>T (p.Leu363=) c.741A>T (p.Leu247=) | |
| 5 | g.69420475A>C | CA359925599 | MARVELD2 | c.1090A>C (p.Lys364Gln) c.742A>C (p.Lys248Gln) | |
| 5 | g.69420475A>G | CA359925600 | MARVELD2 | c.1090A>G (p.Lys364Glu) c.742A>G (p.Lys248Glu) | |
| 5 | g.69420475A>T | CA359925601 | MARVELD2 | c.1090A>T (p.Lys364Ter) c.742A>T (p.Lys248Ter) | |
| 5 | g.69420476A= | CA1553917409 | MARVELD2 | c.1091A= (p.Lys364=) c.743A= (p.Lys248=) | |
| 5 | g.69420476A>C | CA119992527 | MARVELD2 | c.1091A>C (p.Lys364Thr) c.743A>C (p.Lys248Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420476A>G | CA3294164 | MARVELD2 | c.1091A>G (p.Lys364Arg) c.743A>G (p.Lys248Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420476A>T | CA359925602 | MARVELD2 | c.1091A>T (p.Lys364Met) c.743A>T (p.Lys248Met) | |
| 5 | g.69420477G>A | CA444790614 | MARVELD2 | c.1092G>A (p.Lys364=) c.744G>A (p.Lys248=) | |
| 5 | g.69420477G>C | CA359925603 | MARVELD2 | c.1092G>C (p.Lys364Asn) c.744G>C (p.Lys248Asn) | gnomAD v4 |
| 5 | g.69420477G>T | CA359925604 | MARVELD2 | c.1092G>T (p.Lys364Asn) c.744G>T (p.Lys248Asn) | |
| 5 | g.69420478T>A | CA359925606 | MARVELD2 | c.1093T>A (p.Leu365Ile) c.745T>A (p.Leu249Ile) | |
| 5 | g.69420478T>C | CA444790615 | MARVELD2 | c.1093T>C (p.Leu365=) c.745T>C (p.Leu249=) | |
| 5 | g.69420478T>G | CA359925605 | MARVELD2 | c.1093T>G (p.Leu365Val) c.745T>G (p.Leu249Val) | |
| 5 | g.69420479T>A | CA359925607 | MARVELD2 | c.1094T>A (p.Leu365Ter) c.746T>A (p.Leu249Ter) | |
| 5 | g.69420479T>C | CA359925608 | MARVELD2 | c.1094T>C (p.Leu365Ser) c.746T>C (p.Leu249Ser) | |
| 5 | g.69420479T>G | CA359925609 | MARVELD2 | c.1094T>G (p.Leu365Ter) c.746T>G (p.Leu249Ter) | |
| 5 | g.69420480A= | CA1553917413 | MARVELD2 | c.1095A= (p.Leu365=) c.747A= (p.Leu249=) | |
| 5 | g.69420480A>C | CA359925610 | MARVELD2 | c.1095A>C (p.Leu365Phe) c.747A>C (p.Leu249Phe) | |
| 5 | g.69420480A>G | CA176722 | MARVELD2 | c.1095A>G (p.Leu365=) c.747A>G (p.Leu249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420480A>T | CA359925611 | MARVELD2 | c.1095A>T (p.Leu365Phe) c.747A>T (p.Leu249Phe) | |
| 5 | g.69420481T>A | CA359925612 | MARVELD2 | c.1096T>A (p.Trp366Arg) c.748T>A (p.Trp250Arg) | |
| 5 | g.69420481T>C | CA359925613 | MARVELD2 | c.1096T>C (p.Trp366Arg) c.748T>C (p.Trp250Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420481T>G | CA359925614 | MARVELD2 | c.1096T>G (p.Trp366Gly) c.748T>G (p.Trp250Gly) | |
| 5 | g.69420481T= | CA1553917421 | MARVELD2 | c.1096T= (p.Trp366=) c.748T= (p.Trp250=) | |
| 5 | g.69420482G>A | CA359925616 | MARVELD2 | c.1097G>A (p.Trp366Ter) c.749G>A (p.Trp250Ter) | |
| 5 | g.69420482G>C | CA359925618 | MARVELD2 | c.1097G>C (p.Trp366Ser) c.749G>C (p.Trp250Ser) | |
| 5 | g.69420482G>T | CA359925620 | MARVELD2 | c.1097G>T (p.Trp366Leu) c.749G>T (p.Trp250Leu) | |
| 5 | g.69420483G>A | CA3294165 | MARVELD2 | c.1098G>A (p.Trp366Ter) c.750G>A (p.Trp250Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420483G>C | CA359925624 | MARVELD2 | c.1098G>C (p.Trp366Cys) c.750G>C (p.Trp250Cys) | |
| 5 | g.69420483G= | CA1553917425 | MARVELD2 | c.1098G= (p.Trp366=) c.750G= (p.Trp250=) | |
| 5 | g.69420483G>T | CA359925622 | MARVELD2 | c.1098G>T (p.Trp366Cys) c.750G>T (p.Trp250Cys) | |
| 5 | g.69420484A>C | CA444790620 | MARVELD2 | c.1099A>C (p.Arg367=) c.751A>C (p.Arg251=) | gnomAD v4 |
| 5 | g.69420484A>G | CA359925626 | MARVELD2 | c.1099A>G (p.Arg367Gly) c.751A>G (p.Arg251Gly) | COSMIC |
| 5 | g.69420484A>T | CA359925628 | MARVELD2 | c.1099A>T (p.Arg367Trp) c.751A>T (p.Arg251Trp) | |
| 5 | g.69420485G>A | CA359925630 | MARVELD2 | c.1100G>A (p.Arg367Lys) c.752G>A (p.Arg251Lys) | |
| 5 | g.69420485G>C | CA359925632 | MARVELD2 | c.1100G>C (p.Arg367Thr) c.752G>C (p.Arg251Thr) | |
| 5 | g.69420485G= | CA1553917429 | MARVELD2 | c.1100G= (p.Arg367=) c.752G= (p.Arg251=) | |
| 5 | g.69420485G>T | CA3294166 | MARVELD2 | c.1100G>T (p.Arg367Met) c.752G>T (p.Arg251Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420486G>A | CA444790621 | MARVELD2 | c.1101G>A (p.Arg367=) c.753G>A (p.Arg251=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420486G>C | CA359925634 | MARVELD2 | c.1101G>C (p.Arg367Ser) c.753G>C (p.Arg251Ser) | |
| 5 | g.69420486G= | CA1553917434 | MARVELD2 | c.1101G= (p.Arg367=) c.753G= (p.Arg251=) | |
| 5 | g.69420486G>T | CA359925636 | MARVELD2 | c.1101G>T (p.Arg367Ser) c.753G>T (p.Arg251Ser) | |
| 5 | g.69420487C>A | CA359925638 | MARVELD2 | c.1102C>A (p.His368Asn) c.754C>A (p.His252Asn) | |
| 5 | g.69420487C= | CA1553917440 | MARVELD2 | c.1102C= (p.His368=) c.754C= (p.His252=) | |
| 5 | g.69420487C>G | CA359925640 | MARVELD2 | c.1102C>G (p.His368Asp) c.754C>G (p.His252Asp) | |
| 5 | g.69420487C>T | CA359925642 | MARVELD2 | c.1102C>T (p.His368Tyr) c.754C>T (p.His252Tyr) | dbSNP gnomAD v4 |
| 5 | g.69420488A= | CA1553917442 | MARVELD2 | c.1103A= (p.His368=) c.755A= (p.His252=) | |
| 5 | g.69420488A>C | CA359925644 | MARVELD2 | c.1103A>C (p.His368Pro) c.755A>C (p.His252Pro) | dbSNP |
| 5 | g.69420488A>G | CA359925645 | MARVELD2 | c.1103A>G (p.His368Arg) c.755A>G (p.His252Arg) | |
| 5 | g.69420488A>T | CA359925647 | MARVELD2 | c.1103A>T (p.His368Leu) c.755A>T (p.His252Leu) | |
| 5 | g.69420489T>A | CA359925649 | MARVELD2 | c.1104T>A (p.His368Gln) c.756T>A (p.His252Gln) | |
| 5 | g.69420489T>C | CA444790623 | MARVELD2 | c.1104T>C (p.His368=) c.756T>C (p.His252=) | |
| 5 | g.69420489T>G | CA359925650 | MARVELD2 | c.1104T>G (p.His368Gln) c.756T>G (p.His252Gln) | |
| 5 | g.69420490G>A | CA359925656 | MARVELD2 | c.1105G>A (p.Glu369Lys) c.757G>A (p.Glu253Lys) | |
| 5 | g.69420490G>C | CA359925654 | MARVELD2 | c.1105G>C (p.Glu369Gln) c.757G>C (p.Glu253Gln) | |
| 5 | g.69420490G>T | CA359925652 | MARVELD2 | c.1105G>T (p.Glu369Ter) c.757G>T (p.Glu253Ter) | |
| 5 | g.69420491A>C | CA359925658 | MARVELD2 | c.1106A>C (p.Glu369Ala) c.758A>C (p.Glu253Ala) | |
| 5 | g.69420491A>G | CA359925660 | MARVELD2 | c.1106A>G (p.Glu369Gly) c.758A>G (p.Glu253Gly) | |
| 5 | g.69420491A>T | CA359925661 | MARVELD2 | c.1106A>T (p.Glu369Val) c.758A>T (p.Glu253Val) | |
| 5 | g.69420492G>A | CA444790627 | MARVELD2 | c.1107G>A (p.Glu369=) c.759G>A (p.Glu253=) | |
| 5 | g.69420492G>C | CA359925662 | MARVELD2 | c.1107G>C (p.Glu369Asp) c.759G>C (p.Glu253Asp) | dbSNP |
| 5 | g.69420492G= | CA1553917445 | MARVELD2 | c.1107G= (p.Glu369=) c.759G= (p.Glu253=) | |
| 5 | g.69420492G>T | CA359925664 | MARVELD2 | c.1107G>T (p.Glu369Asp) c.759G>T (p.Glu253Asp) | |
| 5 | g.69420493G>A | CA359925666 | MARVELD2 | c.1108G>A (p.Ala370Thr) c.760G>A (p.Ala254Thr) | |
| 5 | g.69420493G>C | CA359925668 | MARVELD2 | c.1108G>C (p.Ala370Pro) c.760G>C (p.Ala254Pro) | |
| 5 | g.69420493G>T | CA359925670 | MARVELD2 | c.1108G>T (p.Ala370Ser) c.760G>T (p.Ala254Ser) | gnomAD v4 |
| 5 | g.69420494C>A | CA359925672 | MARVELD2 | c.1109C>A (p.Ala370Glu) c.761C>A (p.Ala254Glu) | |
| 5 | g.69420494C= | CA1553917450 | MARVELD2 | c.1109C= (p.Ala370=) c.761C= (p.Ala254=) | |
| 5 | g.69420494C>G | CA359925674 | MARVELD2 | c.1109C>G (p.Ala370Gly) c.761C>G (p.Ala254Gly) | |
| 5 | g.69420494C>T | CA3294167 | MARVELD2 | c.1109C>T (p.Ala370Val) c.761C>T (p.Ala254Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420495A= | CA1553917453 | MARVELD2 | c.1110A= (p.Ala370=) c.762A= (p.Ala254=) | |
| 5 | g.69420495A>C | CA444790628 | MARVELD2 | c.1110A>C (p.Ala370=) c.762A>C (p.Ala254=) | |
| 5 | g.69420495A>G | CA444790632 | MARVELD2 | c.1110A>G (p.Ala370=) c.762A>G (p.Ala254=) | dbSNP |
| 5 | g.69420495A>T | CA444790630 | MARVELD2 | c.1110A>T (p.Ala370=) c.762A>T (p.Ala254=) | |
| 5 | g.69420496G>A | CA359925681 | MARVELD2 | c.1111G>A (p.Ala371Thr) c.763G>A (p.Ala255Thr) | gnomAD v4 |
| 5 | g.69420496G>C | CA359925679 | MARVELD2 | c.1111G>C (p.Ala371Pro) c.763G>C (p.Ala255Pro) | |
| 5 | g.69420496G>T | CA359925677 | MARVELD2 | c.1111G>T (p.Ala371Ser) c.763G>T (p.Ala255Ser) | gnomAD v4 |
| 5 | g.69420497C>A | CA359925683 | MARVELD2 | c.1112C>A (p.Ala371Asp) c.764C>A (p.Ala255Asp) | |
| 5 | g.69420497C>G | CA359925685 | MARVELD2 | c.1112C>G (p.Ala371Gly) c.764C>G (p.Ala255Gly) | |
| 5 | g.69420497C>T | CA359925687 | MARVELD2 | c.1112C>T (p.Ala371Val) c.764C>T (p.Ala255Val) | |
| 5 | g.69420498T>A | CA444790634 | MARVELD2 | c.1113T>A (p.Ala371=) c.765T>A (p.Ala255=) | |
| 5 | g.69420498T>C | CA444790635 | MARVELD2 | c.1113T>C (p.Ala371=) c.765T>C (p.Ala255=) | |
| 5 | g.69420498T>G | CA444790636 | MARVELD2 | c.1113T>G (p.Ala371=) c.765T>G (p.Ala255=) | |
| 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) |