| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.91002123C>A | CA492204347 | VPS33B | c.1332G>T (p.Thr444=) c.1251G>T (p.Thr417=) c.*1027G>T (n.*1027G>T) c.1059G>T (p.Thr353=) c.1254G>T (p.Thr418=) c.1008G>T (p.Thr336=) c.987G>T (p.Thr329=) n.1830G>T | gnomAD v4 |
| 15 | g.91002123C= | CA2195398993 | VPS33B | c.1332G= (p.Thr444=) c.1251G= (p.Thr417=) c.*1027G= (n.*1027G=) c.1059G= (p.Thr353=) c.1254G= (p.Thr418=) c.1008G= (p.Thr336=) c.987G= (p.Thr329=) n.1830G= | |
| 15 | g.91002123C>G | CA492204349 | VPS33B | c.1332G>C (p.Thr444=) c.1251G>C (p.Thr417=) c.*1027G>C (n.*1027G>C) c.1059G>C (p.Thr353=) c.1254G>C (p.Thr418=) c.1008G>C (p.Thr336=) c.987G>C (p.Thr329=) n.1830G>C | gnomAD v4 |
| 15 | g.91002123C>T | CA7744682 | VPS33B | c.1332G>A (p.Thr444=) c.1251G>A (p.Thr417=) c.*1027G>A (n.*1027G>A) c.1059G>A (p.Thr353=) c.1254G>A (p.Thr418=) c.1008G>A (p.Thr336=) c.987G>A (p.Thr329=) n.1830G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002124G>A | CA7744683 | VPS33B | c.1331C>T (p.Thr444Met) c.1250C>T (p.Thr417Met) c.*1026C>T (n.*1026C>T) c.1058C>T (p.Thr353Met) c.1253C>T (p.Thr418Met) c.1007C>T (p.Thr336Met) c.986C>T (p.Thr329Met) n.1829C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002124G>C | CA393886561 | VPS33B | c.1331C>G (p.Thr444Arg) c.1250C>G (p.Thr417Arg) c.*1026C>G (n.*1026C>G) c.1058C>G (p.Thr353Arg) c.1253C>G (p.Thr418Arg) c.1007C>G (p.Thr336Arg) c.986C>G (p.Thr329Arg) n.1829C>G | gnomAD v4 |
| 15 | g.91002124G= | CA2195398994 | VPS33B | c.1331C= (p.Thr444=) c.1250C= (p.Thr417=) c.*1026C= (n.*1026C=) c.1058C= (p.Thr353=) c.1253C= (p.Thr418=) c.1007C= (p.Thr336=) c.986C= (p.Thr329=) n.1829C= | |
| 15 | g.91002124G>T | CA393886562 | VPS33B | c.1331C>A (p.Thr444Lys) c.1250C>A (p.Thr417Lys) c.*1026C>A (n.*1026C>A) c.1058C>A (p.Thr353Lys) c.1253C>A (p.Thr418Lys) c.1007C>A (p.Thr336Lys) c.986C>A (p.Thr329Lys) n.1829C>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.91002125T>A | CA393886566 | VPS33B | c.1330A>T (p.Thr444Ser) c.1249A>T (p.Thr417Ser) c.*1025A>T (n.*1025A>T) c.1057A>T (p.Thr353Ser) c.1252A>T (p.Thr418Ser) c.1006A>T (p.Thr336Ser) c.985A>T (p.Thr329Ser) n.1828A>T | |
| 15 | g.91002125T>C | CA393886568 | VPS33B | c.1330A>G (p.Thr444Ala) c.1249A>G (p.Thr417Ala) c.*1025A>G (n.*1025A>G) c.1057A>G (p.Thr353Ala) c.1252A>G (p.Thr418Ala) c.1006A>G (p.Thr336Ala) c.985A>G (p.Thr329Ala) n.1828A>G | |
| 15 | g.91002125T>G | CA393886564 | VPS33B | c.1330A>C (p.Thr444Pro) c.1249A>C (p.Thr417Pro) c.*1025A>C (n.*1025A>C) c.1057A>C (p.Thr353Pro) c.1252A>C (p.Thr418Pro) c.1006A>C (p.Thr336Pro) c.985A>C (p.Thr329Pro) n.1828A>C | |
| 15 | g.91002126T>A | CA492204358 | VPS33B | c.1329A>T (p.Leu443=) c.1248A>T (p.Leu416=) c.*1024A>T (n.*1024A>T) c.1056A>T (p.Leu352=) c.1251A>T (p.Leu417=) c.1005A>T (p.Leu335=) c.984A>T (p.Leu328=) n.1827A>T | |
| 15 | g.91002126T>C | CA492204359 | VPS33B | c.1329A>G (p.Leu443=) c.1248A>G (p.Leu416=) c.*1024A>G (n.*1024A>G) c.1056A>G (p.Leu352=) c.1251A>G (p.Leu417=) c.1005A>G (p.Leu335=) c.984A>G (p.Leu328=) n.1827A>G | |
| 15 | g.91002126T>G | CA492204361 | VPS33B | c.1329A>C (p.Leu443=) c.1248A>C (p.Leu416=) c.*1024A>C (n.*1024A>C) c.1056A>C (p.Leu352=) c.1251A>C (p.Leu417=) c.1005A>C (p.Leu335=) c.984A>C (p.Leu328=) n.1827A>C | |
| 15 | g.91002127A>C | CA393886571 | VPS33B | c.1328T>G (p.Leu443Arg) c.1247T>G (p.Leu416Arg) c.*1023T>G (n.*1023T>G) c.1055T>G (p.Leu352Arg) c.1250T>G (p.Leu417Arg) c.1004T>G (p.Leu335Arg) c.983T>G (p.Leu328Arg) n.1826T>G | |
| 15 | g.91002127A>G | CA393886573 | VPS33B | c.1328T>C (p.Leu443Pro) c.1247T>C (p.Leu416Pro) c.*1023T>C (n.*1023T>C) c.1055T>C (p.Leu352Pro) c.1250T>C (p.Leu417Pro) c.1004T>C (p.Leu335Pro) c.983T>C (p.Leu328Pro) n.1826T>C | gnomAD v4 |
| 15 | g.91002127A>T | CA393886574 | VPS33B | c.1328T>A (p.Leu443Gln) c.1247T>A (p.Leu416Gln) c.*1023T>A (n.*1023T>A) c.1055T>A (p.Leu352Gln) c.1250T>A (p.Leu417Gln) c.1004T>A (p.Leu335Gln) c.983T>A (p.Leu328Gln) n.1826T>A | |
| 15 | g.91002128G>A | CA492204366 | VPS33B | c.1327C>T (p.Leu443=) c.1246C>T (p.Leu416=) c.*1022C>T (n.*1022C>T) c.1054C>T (p.Leu352=) c.1249C>T (p.Leu417=) c.1003C>T (p.Leu335=) c.982C>T (p.Leu328=) n.1825C>T | |
| 15 | g.91002128G>C | CA393886576 | VPS33B | c.1327C>G (p.Leu443Val) c.1246C>G (p.Leu416Val) c.*1022C>G (n.*1022C>G) c.1054C>G (p.Leu352Val) c.1249C>G (p.Leu417Val) c.1003C>G (p.Leu335Val) c.982C>G (p.Leu328Val) n.1825C>G | |
| 15 | g.91002128G>T | CA393886578 | VPS33B | c.1327C>A (p.Leu443Ile) c.1246C>A (p.Leu416Ile) c.*1022C>A (n.*1022C>A) c.1054C>A (p.Leu352Ile) c.1249C>A (p.Leu417Ile) c.1003C>A (p.Leu335Ile) c.982C>A (p.Leu328Ile) n.1825C>A | |
| 15 | g.91002129G>A | CA7744684 | VPS33B | c.1326C>T (p.Leu442=) c.1245C>T (p.Leu415=) c.*1021C>T (n.*1021C>T) c.1053C>T (p.Leu351=) c.1248C>T (p.Leu416=) c.1002C>T (p.Leu334=) c.981C>T (p.Leu327=) n.1824C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002129G>C | CA492204373 | VPS33B | c.1326C>G (p.Leu442=) c.1245C>G (p.Leu415=) c.*1021C>G (n.*1021C>G) c.1053C>G (p.Leu351=) c.1248C>G (p.Leu416=) c.1002C>G (p.Leu334=) c.981C>G (p.Leu327=) n.1824C>G | |
| 15 | g.91002129G= | CA2195398995 | VPS33B | c.1326C= (p.Leu442=) c.1245C= (p.Leu415=) c.*1021C= (n.*1021C=) c.1053C= (p.Leu351=) c.1248C= (p.Leu416=) c.1002C= (p.Leu334=) c.981C= (p.Leu327=) n.1824C= | |
| 15 | g.91002129G>T | CA492204370 | VPS33B | c.1326C>A (p.Leu442=) c.1245C>A (p.Leu415=) c.*1021C>A (n.*1021C>A) c.1053C>A (p.Leu351=) c.1248C>A (p.Leu416=) c.1002C>A (p.Leu334=) c.981C>A (p.Leu327=) n.1824C>A | |
| 15 | g.91002130A>C | CA393886587 | VPS33B | c.1325T>G (p.Leu442Arg) c.1244T>G (p.Leu415Arg) c.*1020T>G (n.*1020T>G) c.1052T>G (p.Leu351Arg) c.1247T>G (p.Leu416Arg) c.1001T>G (p.Leu334Arg) c.980T>G (p.Leu327Arg) n.1823T>G | |
| 15 | g.91002130A>G | CA393886589 | VPS33B | c.1325T>C (p.Leu442Pro) c.1244T>C (p.Leu415Pro) c.*1020T>C (n.*1020T>C) c.1052T>C (p.Leu351Pro) c.1247T>C (p.Leu416Pro) c.1001T>C (p.Leu334Pro) c.980T>C (p.Leu327Pro) n.1823T>C | |
| 15 | g.91002130A>T | CA393886590 | VPS33B | c.1325T>A (p.Leu442His) c.1244T>A (p.Leu415His) c.*1020T>A (n.*1020T>A) c.1052T>A (p.Leu351His) c.1247T>A (p.Leu416His) c.1001T>A (p.Leu334His) c.980T>A (p.Leu327His) n.1823T>A | |
| 15 | g.91002131G>A | CA393886592 | VPS33B | c.1324C>T (p.Leu442Phe) c.1243C>T (p.Leu415Phe) c.*1019C>T (n.*1019C>T) c.1051C>T (p.Leu351Phe) c.1246C>T (p.Leu416Phe) c.1000C>T (p.Leu334Phe) c.979C>T (p.Leu327Phe) n.1822C>T | |
| 15 | g.91002131G>C | CA393886594 | VPS33B | c.1324C>G (p.Leu442Val) c.1243C>G (p.Leu415Val) c.*1019C>G (n.*1019C>G) c.1051C>G (p.Leu351Val) c.1246C>G (p.Leu416Val) c.1000C>G (p.Leu334Val) c.979C>G (p.Leu327Val) n.1822C>G | |
| 15 | g.91002131G= | CA2195398996 | VPS33B | c.1324C= (p.Leu442=) c.1243C= (p.Leu415=) c.*1019C= (n.*1019C=) c.1051C= (p.Leu351=) c.1246C= (p.Leu416=) c.1000C= (p.Leu334=) c.979C= (p.Leu327=) n.1822C= | |
| 15 | g.91002131G>T | CA393886596 | VPS33B | c.1324C>A (p.Leu442Ile) c.1243C>A (p.Leu415Ile) c.*1019C>A (n.*1019C>A) c.1051C>A (p.Leu351Ile) c.1246C>A (p.Leu416Ile) c.1000C>A (p.Leu334Ile) c.979C>A (p.Leu327Ile) n.1822C>A | dbSNP |
| 15 | g.91002132C>A | CA492204381 | VPS33B | c.1323G>T (p.Gly441=) c.1242G>T (p.Gly414=) c.*1018G>T (n.*1018G>T) c.1050G>T (p.Gly350=) c.1245G>T (p.Gly415=) c.999G>T (p.Gly333=) c.978G>T (p.Gly326=) n.1821G>T | |
| 15 | g.91002132C>G | CA492204383 | VPS33B | c.1323G>C (p.Gly441=) c.1242G>C (p.Gly414=) c.*1018G>C (n.*1018G>C) c.1050G>C (p.Gly350=) c.1245G>C (p.Gly415=) c.999G>C (p.Gly333=) c.978G>C (p.Gly326=) n.1821G>C | |
| 15 | g.91002132C>T | CA492204384 | VPS33B | c.1323G>A (p.Gly441=) c.1242G>A (p.Gly414=) c.*1018G>A (n.*1018G>A) c.1050G>A (p.Gly350=) c.1245G>A (p.Gly415=) c.999G>A (p.Gly333=) c.978G>A (p.Gly326=) n.1821G>A | gnomAD v4 |
| 15 | g.91002133C>A | CA393886600 | VPS33B | c.1322G>T (p.Gly441Val) c.1241G>T (p.Gly414Val) c.*1017G>T (n.*1017G>T) c.1049G>T (p.Gly350Val) c.1244G>T (p.Gly415Val) c.998G>T (p.Gly333Val) c.977G>T (p.Gly326Val) n.1820G>T | |
| 15 | g.91002133C= | CA2195398997 | VPS33B | c.1322G= (p.Gly441=) c.1241G= (p.Gly414=) c.*1017G= (n.*1017G=) c.1049G= (p.Gly350=) c.1244G= (p.Gly415=) c.998G= (p.Gly333=) c.977G= (p.Gly326=) n.1820G= | |
| 15 | g.91002133C>G | CA393886602 | VPS33B | c.1322G>C (p.Gly441Ala) c.1241G>C (p.Gly414Ala) c.*1017G>C (n.*1017G>C) c.1049G>C (p.Gly350Ala) c.1244G>C (p.Gly415Ala) c.998G>C (p.Gly333Ala) c.977G>C (p.Gly326Ala) n.1820G>C | |
| 15 | g.91002133C>T | CA393886598 | VPS33B | c.1322G>A (p.Gly441Glu) c.1241G>A (p.Gly414Glu) c.*1017G>A (n.*1017G>A) c.1049G>A (p.Gly350Glu) c.1244G>A (p.Gly415Glu) c.998G>A (p.Gly333Glu) c.977G>A (p.Gly326Glu) n.1820G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.91002134C>A | CA393886604 | VPS33B | c.1321G>T (p.Gly441Trp) c.1240G>T (p.Gly414Trp) c.*1016G>T (n.*1016G>T) c.1048G>T (p.Gly350Trp) c.1243G>T (p.Gly415Trp) c.997G>T (p.Gly333Trp) c.976G>T (p.Gly326Trp) n.1819G>T | |
| 15 | g.91002134C>G | CA393886606 | VPS33B | c.1321G>C (p.Gly441Arg) c.1240G>C (p.Gly414Arg) c.*1016G>C (n.*1016G>C) c.1048G>C (p.Gly350Arg) c.1243G>C (p.Gly415Arg) c.997G>C (p.Gly333Arg) c.976G>C (p.Gly326Arg) n.1819G>C | |
| 15 | g.91002134C>T | CA393886608 | VPS33B | c.1321G>A (p.Gly441Arg) c.1240G>A (p.Gly414Arg) c.*1016G>A (n.*1016G>A) c.1048G>A (p.Gly350Arg) c.1243G>A (p.Gly415Arg) c.997G>A (p.Gly333Arg) c.976G>A (p.Gly326Arg) n.1819G>A | |
| 15 | g.91002135A= | CA2195398998 | VPS33B | c.1320T= (p.Ala440=) c.1239T= (p.Ala413=) c.*1015T= (n.*1015T=) c.1047T= (p.Ala349=) c.1242T= (p.Ala414=) c.996T= (p.Ala332=) c.975T= (p.Ala325=) n.1818T= | |
| 15 | g.91002135A>C | CA492204391 | VPS33B | c.1320T>G (p.Ala440=) c.1239T>G (p.Ala413=) c.*1015T>G (n.*1015T>G) c.1047T>G (p.Ala349=) c.1242T>G (p.Ala414=) c.996T>G (p.Ala332=) c.975T>G (p.Ala325=) n.1818T>G | |
| 15 | g.91002135A>G | CA492204393 | VPS33B | c.1320T>C (p.Ala440=) c.1239T>C (p.Ala413=) c.*1015T>C (n.*1015T>C) c.1047T>C (p.Ala349=) c.1242T>C (p.Ala414=) c.996T>C (p.Ala332=) c.975T>C (p.Ala325=) n.1818T>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.91002135A>T | CA274811355 | VPS33B | c.1320T>A (p.Ala440=) c.1239T>A (p.Ala413=) c.*1015T>A (n.*1015T>A) c.1047T>A (p.Ala349=) c.1242T>A (p.Ala414=) c.996T>A (p.Ala332=) c.975T>A (p.Ala325=) n.1818T>A | dbSNP gnomAD v4 |
| 15 | g.91002136del | CA2518118603 | VPS33B | c.1319del (p.Ala440ValfsTer4) c.1238del (p.Ala413ValfsTer4) c.*1014del (n.*1014del) c.1046del (p.Ala349ValfsTer4) c.1241del (p.Ala414ValfsTer4) c.995del (p.Ala332ValfsTer4) c.974del (p.Ala325ValfsTer4) n.1817del | |
| 15 | g.91002136G>A | CA393886610 | VPS33B | c.1319C>T (p.Ala440Val) c.1238C>T (p.Ala413Val) c.*1014C>T (n.*1014C>T) c.1046C>T (p.Ala349Val) c.1241C>T (p.Ala414Val) c.995C>T (p.Ala332Val) c.974C>T (p.Ala325Val) n.1817C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002136G>C | CA393886612 | VPS33B | c.1319C>G (p.Ala440Gly) c.1238C>G (p.Ala413Gly) c.*1014C>G (n.*1014C>G) c.1046C>G (p.Ala349Gly) c.1241C>G (p.Ala414Gly) c.995C>G (p.Ala332Gly) c.974C>G (p.Ala325Gly) n.1817C>G | |
| 15 | g.91002136G= | CA2195398999 | VPS33B | c.1319C= (p.Ala440=) c.1238C= (p.Ala413=) c.*1014C= (n.*1014C=) c.1046C= (p.Ala349=) c.1241C= (p.Ala414=) c.995C= (p.Ala332=) c.974C= (p.Ala325=) n.1817C= | |
| 15 | g.91002136G>T | CA393886614 | VPS33B | c.1319C>A (p.Ala440Asp) c.1238C>A (p.Ala413Asp) c.*1014C>A (n.*1014C>A) c.1046C>A (p.Ala349Asp) c.1241C>A (p.Ala414Asp) c.995C>A (p.Ala332Asp) c.974C>A (p.Ala325Asp) n.1817C>A |