SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.
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 |
|---|---|---|---|---|---|
| 15 | g.91002060G>A | CA492204142 | VPS33B | c.1395C>T (p.Asp465=) c.1314C>T (p.Asp438=) c.*1090C>T (n.*1090C>T) c.1122C>T (p.Asp374=) c.1317C>T (p.Asp439=) c.1071C>T (p.Asp357=) c.1050C>T (p.Asp350=) n.1893C>T | |
| 15 | g.91002060G>C | CA393886426 | VPS33B | c.1395C>G (p.Asp465Glu) c.1314C>G (p.Asp438Glu) c.*1090C>G (n.*1090C>G) c.1122C>G (p.Asp374Glu) c.1317C>G (p.Asp439Glu) c.1071C>G (p.Asp357Glu) c.1050C>G (p.Asp350Glu) n.1893C>G | |
| 15 | g.91002060G>T | CA393886427 | VPS33B | c.1395C>A (p.Asp465Glu) c.1314C>A (p.Asp438Glu) c.*1090C>A (n.*1090C>A) c.1122C>A (p.Asp374Glu) c.1317C>A (p.Asp439Glu) c.1071C>A (p.Asp357Glu) c.1050C>A (p.Asp350Glu) n.1893C>A | |
| 15 | g.91002061T>A | CA393886428 | VPS33B | c.1394A>T (p.Asp465Val) c.1313A>T (p.Asp438Val) c.*1089A>T (n.*1089A>T) c.1121A>T (p.Asp374Val) c.1316A>T (p.Asp439Val) c.1070A>T (p.Asp357Val) c.1049A>T (p.Asp350Val) n.1892A>T | |
| 15 | g.91002061T>C | CA393886429 | VPS33B | c.1394A>G (p.Asp465Gly) c.1313A>G (p.Asp438Gly) c.*1089A>G (n.*1089A>G) c.1121A>G (p.Asp374Gly) c.1316A>G (p.Asp439Gly) c.1070A>G (p.Asp357Gly) c.1049A>G (p.Asp350Gly) n.1892A>G | |
| 15 | g.91002061T>G | CA393886430 | VPS33B | c.1394A>C (p.Asp465Ala) c.1313A>C (p.Asp438Ala) c.*1089A>C (n.*1089A>C) c.1121A>C (p.Asp374Ala) c.1316A>C (p.Asp439Ala) c.1070A>C (p.Asp357Ala) c.1049A>C (p.Asp350Ala) n.1892A>C | |
| 15 | g.91002062C>A | CA393886431 | VPS33B | c.1393G>T (p.Asp465Tyr) c.1312G>T (p.Asp438Tyr) c.*1088G>T (n.*1088G>T) c.1120G>T (p.Asp374Tyr) c.1315G>T (p.Asp439Tyr) c.1069G>T (p.Asp357Tyr) c.1048G>T (p.Asp350Tyr) n.1891G>T | gnomAD v4 |
| 15 | g.91002062C= | CA2195398965 | VPS33B | c.1393G= (p.Asp465=) c.1312G= (p.Asp438=) c.*1088G= (n.*1088G=) c.1120G= (p.Asp374=) c.1315G= (p.Asp439=) c.1069G= (p.Asp357=) c.1048G= (p.Asp350=) n.1891G= | |
| 15 | g.91002062C>G | CA393886432 | VPS33B | c.1393G>C (p.Asp465His) c.1312G>C (p.Asp438His) c.*1088G>C (n.*1088G>C) c.1120G>C (p.Asp374His) c.1315G>C (p.Asp439His) c.1069G>C (p.Asp357His) c.1048G>C (p.Asp350His) n.1891G>C | |
| 15 | g.91002062C>T | CA7744666 | VPS33B | c.1393G>A (p.Asp465Asn) c.1312G>A (p.Asp438Asn) c.*1088G>A (n.*1088G>A) c.1120G>A (p.Asp374Asn) c.1315G>A (p.Asp439Asn) c.1069G>A (p.Asp357Asn) c.1048G>A (p.Asp350Asn) n.1891G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002063G>A | CA7744667 | VPS33B | c.1392C>T (p.Thr464=) c.1311C>T (p.Thr437=) c.*1087C>T (n.*1087C>T) c.1119C>T (p.Thr373=) c.1314C>T (p.Thr438=) c.1068C>T (p.Thr356=) c.1047C>T (p.Thr349=) n.1890C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002063G>C | CA492204152 | VPS33B | c.1392C>G (p.Thr464=) c.1311C>G (p.Thr437=) c.*1087C>G (n.*1087C>G) c.1119C>G (p.Thr373=) c.1314C>G (p.Thr438=) c.1068C>G (p.Thr356=) c.1047C>G (p.Thr349=) n.1890C>G | |
| 15 | g.91002063G= | CA2195398966 | VPS33B | c.1392C= (p.Thr464=) c.1311C= (p.Thr437=) c.*1087C= (n.*1087C=) c.1119C= (p.Thr373=) c.1314C= (p.Thr438=) c.1068C= (p.Thr356=) c.1047C= (p.Thr349=) n.1890C= | |
| 15 | g.91002063G>T | CA492204153 | VPS33B | c.1392C>A (p.Thr464=) c.1311C>A (p.Thr437=) c.*1087C>A (n.*1087C>A) c.1119C>A (p.Thr373=) c.1314C>A (p.Thr438=) c.1068C>A (p.Thr356=) c.1047C>A (p.Thr349=) n.1890C>A | |
| 15 | g.91002064G>A | CA393886433 | VPS33B | c.1391C>T (p.Thr464Ile) c.1310C>T (p.Thr437Ile) c.*1086C>T (n.*1086C>T) c.1118C>T (p.Thr373Ile) c.1313C>T (p.Thr438Ile) c.1067C>T (p.Thr356Ile) c.1046C>T (p.Thr349Ile) n.1889C>T | |
| 15 | g.91002064G>C | CA393886434 | VPS33B | c.1391C>G (p.Thr464Ser) c.1310C>G (p.Thr437Ser) c.*1086C>G (n.*1086C>G) c.1118C>G (p.Thr373Ser) c.1313C>G (p.Thr438Ser) c.1067C>G (p.Thr356Ser) c.1046C>G (p.Thr349Ser) n.1889C>G | |
| 15 | g.91002064G>T | CA393886435 | VPS33B | c.1391C>A (p.Thr464Asn) c.1310C>A (p.Thr437Asn) c.*1086C>A (n.*1086C>A) c.1118C>A (p.Thr373Asn) c.1313C>A (p.Thr438Asn) c.1067C>A (p.Thr356Asn) c.1046C>A (p.Thr349Asn) n.1889C>A | |
| 15 | g.91002065T>A | CA393886436 | VPS33B | c.1390A>T (p.Thr464Ser) c.1309A>T (p.Thr437Ser) c.*1085A>T (n.*1085A>T) c.1117A>T (p.Thr373Ser) c.1312A>T (p.Thr438Ser) c.1066A>T (p.Thr356Ser) c.1045A>T (p.Thr349Ser) n.1888A>T | |
| 15 | g.91002065T>C | CA393886437 | VPS33B | c.1390A>G (p.Thr464Ala) c.1309A>G (p.Thr437Ala) c.*1085A>G (n.*1085A>G) c.1117A>G (p.Thr373Ala) c.1312A>G (p.Thr438Ala) c.1066A>G (p.Thr356Ala) c.1045A>G (p.Thr349Ala) n.1888A>G | |
| 15 | g.91002065T>G | CA393886438 | VPS33B | c.1390A>C (p.Thr464Pro) c.1309A>C (p.Thr437Pro) c.*1085A>C (n.*1085A>C) c.1117A>C (p.Thr373Pro) c.1312A>C (p.Thr438Pro) c.1066A>C (p.Thr356Pro) c.1045A>C (p.Thr349Pro) n.1888A>C | |
| 15 | g.91002066C>A | CA492204160 | VPS33B | c.1389G>T (p.Val463=) c.1308G>T (p.Val436=) c.*1084G>T (n.*1084G>T) c.1116G>T (p.Val372=) c.1311G>T (p.Val437=) c.1065G>T (p.Val355=) c.1044G>T (p.Val348=) n.1887G>T | gnomAD v4 |
| 15 | g.91002066C>G | CA492204162 | VPS33B | c.1389G>C (p.Val463=) c.1308G>C (p.Val436=) c.*1084G>C (n.*1084G>C) c.1116G>C (p.Val372=) c.1311G>C (p.Val437=) c.1065G>C (p.Val355=) c.1044G>C (p.Val348=) n.1887G>C | |
| 15 | g.91002066C>T | CA492204163 | VPS33B | c.1389G>A (p.Val463=) c.1308G>A (p.Val436=) c.*1084G>A (n.*1084G>A) c.1116G>A (p.Val372=) c.1311G>A (p.Val437=) c.1065G>A (p.Val355=) c.1044G>A (p.Val348=) n.1887G>A | |
| 15 | g.91002067A>C | CA393886441 | VPS33B | c.1388T>G (p.Val463Gly) c.1307T>G (p.Val436Gly) c.*1083T>G (n.*1083T>G) c.1115T>G (p.Val372Gly) c.1310T>G (p.Val437Gly) c.1064T>G (p.Val355Gly) c.1043T>G (p.Val348Gly) n.1886T>G | |
| 15 | g.91002067A>G | CA393886440 | VPS33B | c.1388T>C (p.Val463Ala) c.1307T>C (p.Val436Ala) c.*1083T>C (n.*1083T>C) c.1115T>C (p.Val372Ala) c.1310T>C (p.Val437Ala) c.1064T>C (p.Val355Ala) c.1043T>C (p.Val348Ala) n.1886T>C | |
| 15 | g.91002067A>T | CA393886439 | VPS33B | c.1388T>A (p.Val463Glu) c.1307T>A (p.Val436Glu) c.*1083T>A (n.*1083T>A) c.1115T>A (p.Val372Glu) c.1310T>A (p.Val437Glu) c.1064T>A (p.Val355Glu) c.1043T>A (p.Val348Glu) n.1886T>A | |
| 15 | g.91002067_91002091dup | CA2630425357 | VPS33B | c.1364_1388dup (p.Thr464GlyfsTer3) c.1283_1307dup (p.Thr437GlyfsTer3) c.*1059_*1083dup (n.*1059_*1083dup) c.1091_1115dup (p.Thr373GlyfsTer3) c.1286_1310dup (p.Thr438GlyfsTer3) c.1040_1064dup (p.Thr356GlyfsTer3) c.1019_1043dup (p.Thr349GlyfsTer3) n.1862_1886dup | gnomAD v4 |
| 15 | g.91002068C>A | CA393886442 | VPS33B | c.1387G>T (p.Val463Leu) c.1306G>T (p.Val436Leu) c.*1082G>T (n.*1082G>T) c.1114G>T (p.Val372Leu) c.1309G>T (p.Val437Leu) c.1063G>T (p.Val355Leu) c.1042G>T (p.Val348Leu) n.1885G>T | |
| 15 | g.91002068C= | CA2195398967 | VPS33B | c.1387G= (p.Val463=) c.1306G= (p.Val436=) c.*1082G= (n.*1082G=) c.1114G= (p.Val372=) c.1309G= (p.Val437=) c.1063G= (p.Val355=) c.1042G= (p.Val348=) n.1885G= | |
| 15 | g.91002068C>G | CA393886443 | VPS33B | c.1387G>C (p.Val463Leu) c.1306G>C (p.Val436Leu) c.*1082G>C (n.*1082G>C) c.1114G>C (p.Val372Leu) c.1309G>C (p.Val437Leu) c.1063G>C (p.Val355Leu) c.1042G>C (p.Val348Leu) n.1885G>C | gnomAD v4 |
| 15 | g.91002068C>T | CA393886444 | VPS33B | c.1387G>A (p.Val463Met) c.1306G>A (p.Val436Met) c.*1082G>A (n.*1082G>A) c.1114G>A (p.Val372Met) c.1309G>A (p.Val437Met) c.1063G>A (p.Val355Met) c.1042G>A (p.Val348Met) n.1885G>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.91002069dup | CA2841426086 | VPS33B | c.1387dup (p.Val463GlyfsTer11) c.1306dup (p.Val436GlyfsTer11) c.*1082dup (n.*1082dup) c.1114dup (p.Val372GlyfsTer11) c.1309dup (p.Val437GlyfsTer11) c.1063dup (p.Val355GlyfsTer11) c.1042dup (p.Val348GlyfsTer11) n.1885dup | |
| 15 | g.91002069C>A | CA492204170 | VPS33B | c.1386G>T (p.Leu462=) c.1305G>T (p.Leu435=) c.*1081G>T (n.*1081G>T) c.1113G>T (p.Leu371=) c.1308G>T (p.Leu436=) c.1062G>T (p.Leu354=) c.1041G>T (p.Leu347=) n.1884G>T | |
| 15 | g.91002069C>G | CA492204173 | VPS33B | c.1386G>C (p.Leu462=) c.1305G>C (p.Leu435=) c.*1081G>C (n.*1081G>C) c.1113G>C (p.Leu371=) c.1308G>C (p.Leu436=) c.1062G>C (p.Leu354=) c.1041G>C (p.Leu347=) n.1884G>C | |
| 15 | g.91002069C>T | CA492204172 | VPS33B | c.1386G>A (p.Leu462=) c.1305G>A (p.Leu435=) c.*1081G>A (n.*1081G>A) c.1113G>A (p.Leu371=) c.1308G>A (p.Leu436=) c.1062G>A (p.Leu354=) c.1041G>A (p.Leu347=) n.1884G>A | gnomAD v4 |
| 15 | g.91002070A>C | CA393886445 | VPS33B | c.1385T>G (p.Leu462Arg) c.1304T>G (p.Leu435Arg) c.*1080T>G (n.*1080T>G) c.1112T>G (p.Leu371Arg) c.1307T>G (p.Leu436Arg) c.1061T>G (p.Leu354Arg) c.1040T>G (p.Leu347Arg) n.1883T>G | |
| 15 | g.91002070A>G | CA393886446 | VPS33B | c.1385T>C (p.Leu462Pro) c.1304T>C (p.Leu435Pro) c.*1080T>C (n.*1080T>C) c.1112T>C (p.Leu371Pro) c.1307T>C (p.Leu436Pro) c.1061T>C (p.Leu354Pro) c.1040T>C (p.Leu347Pro) n.1883T>C | |
| 15 | g.91002070A>T | CA393886447 | VPS33B | c.1385T>A (p.Leu462Gln) c.1304T>A (p.Leu435Gln) c.*1080T>A (n.*1080T>A) c.1112T>A (p.Leu371Gln) c.1307T>A (p.Leu436Gln) c.1061T>A (p.Leu354Gln) c.1040T>A (p.Leu347Gln) n.1883T>A | |
| 15 | g.91002071G>A | CA7744668 | VPS33B | c.1384C>T (p.Leu462=) c.1303C>T (p.Leu435=) c.*1079C>T (n.*1079C>T) c.1111C>T (p.Leu371=) c.1306C>T (p.Leu436=) c.1060C>T (p.Leu354=) c.1039C>T (p.Leu347=) n.1882C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002071G>C | CA393886448 | VPS33B | c.1384C>G (p.Leu462Val) c.1303C>G (p.Leu435Val) c.*1079C>G (n.*1079C>G) c.1111C>G (p.Leu371Val) c.1306C>G (p.Leu436Val) c.1060C>G (p.Leu354Val) c.1039C>G (p.Leu347Val) n.1882C>G | |
| 15 | g.91002071G= | CA2195398968 | VPS33B | c.1384C= (p.Leu462=) c.1303C= (p.Leu435=) c.*1079C= (n.*1079C=) c.1111C= (p.Leu371=) c.1306C= (p.Leu436=) c.1060C= (p.Leu354=) c.1039C= (p.Leu347=) n.1882C= | |
| 15 | g.91002071G>T | CA393886449 | VPS33B | c.1384C>A (p.Leu462Met) c.1303C>A (p.Leu435Met) c.*1079C>A (n.*1079C>A) c.1111C>A (p.Leu371Met) c.1306C>A (p.Leu436Met) c.1060C>A (p.Leu354Met) c.1039C>A (p.Leu347Met) n.1882C>A | |
| 15 | g.91002072C>A | CA393886450 | VPS33B | c.1383G>T (p.Lys461Asn) c.1302G>T (p.Lys434Asn) c.*1078G>T (n.*1078G>T) c.1110G>T (p.Lys370Asn) c.1305G>T (p.Lys435Asn) c.1059G>T (p.Lys353Asn) c.1038G>T (p.Lys346Asn) n.1881G>T | |
| 15 | g.91002072C>G | CA393886451 | VPS33B | c.1383G>C (p.Lys461Asn) c.1302G>C (p.Lys434Asn) c.*1078G>C (n.*1078G>C) c.1110G>C (p.Lys370Asn) c.1305G>C (p.Lys435Asn) c.1059G>C (p.Lys353Asn) c.1038G>C (p.Lys346Asn) n.1881G>C | |
| 15 | g.91002072C>T | CA492204183 | VPS33B | c.1383G>A (p.Lys461=) c.1302G>A (p.Lys434=) c.*1078G>A (n.*1078G>A) c.1110G>A (p.Lys370=) c.1305G>A (p.Lys435=) c.1059G>A (p.Lys353=) c.1038G>A (p.Lys346=) n.1881G>A | |
| 15 | g.91002073T>A | CA393886452 | VPS33B | c.1382A>T (p.Lys461Met) c.1301A>T (p.Lys434Met) c.*1077A>T (n.*1077A>T) c.1109A>T (p.Lys370Met) c.1304A>T (p.Lys435Met) c.1058A>T (p.Lys353Met) c.1037A>T (p.Lys346Met) n.1880A>T | |
| 15 | g.91002073T>C | CA393886453 | VPS33B | c.1382A>G (p.Lys461Arg) c.1301A>G (p.Lys434Arg) c.*1077A>G (n.*1077A>G) c.1109A>G (p.Lys370Arg) c.1304A>G (p.Lys435Arg) c.1058A>G (p.Lys353Arg) c.1037A>G (p.Lys346Arg) n.1880A>G | |
| 15 | g.91002073T>G | CA393886454 | VPS33B | c.1382A>C (p.Lys461Thr) c.1301A>C (p.Lys434Thr) c.*1077A>C (n.*1077A>C) c.1109A>C (p.Lys370Thr) c.1304A>C (p.Lys435Thr) c.1058A>C (p.Lys353Thr) c.1037A>C (p.Lys346Thr) n.1880A>C | |
| 15 | g.91002074T>A | CA393886457 | VPS33B | c.1381A>T (p.Lys461Ter) c.1300A>T (p.Lys434Ter) c.*1076A>T (n.*1076A>T) c.1108A>T (p.Lys370Ter) c.1303A>T (p.Lys435Ter) c.1057A>T (p.Lys353Ter) c.1036A>T (p.Lys346Ter) n.1879A>T | |
| 15 | g.91002074T>C | CA393886456 | VPS33B | c.1381A>G (p.Lys461Glu) c.1300A>G (p.Lys434Glu) c.*1076A>G (n.*1076A>G) c.1108A>G (p.Lys370Glu) c.1303A>G (p.Lys435Glu) c.1057A>G (p.Lys353Glu) c.1036A>G (p.Lys346Glu) n.1879A>G | |
| 15 | g.91002074T>G | CA393886455 | VPS33B | c.1381A>C (p.Lys461Gln) c.1300A>C (p.Lys434Gln) c.*1076A>C (n.*1076A>C) c.1108A>C (p.Lys370Gln) c.1303A>C (p.Lys435Gln) c.1057A>C (p.Lys353Gln) c.1036A>C (p.Lys346Gln) n.1879A>C | |
| 15 | g.91002075G>A | CA492204190 | VPS33B | c.1380C>T (p.Ser460=) c.1299C>T (p.Ser433=) c.*1075C>T (n.*1075C>T) c.1107C>T (p.Ser369=) c.1302C>T (p.Ser434=) c.1056C>T (p.Ser352=) c.1035C>T (p.Ser345=) n.1878C>T | gnomAD v4 |
| 15 | g.91002075G>C | CA393886458 | VPS33B | c.1380C>G (p.Ser460Arg) c.1299C>G (p.Ser433Arg) c.*1075C>G (n.*1075C>G) c.1107C>G (p.Ser369Arg) c.1302C>G (p.Ser434Arg) c.1056C>G (p.Ser352Arg) c.1035C>G (p.Ser345Arg) n.1878C>G | |
| 15 | g.91002075G>T | CA393886459 | VPS33B | c.1380C>A (p.Ser460Arg) c.1299C>A (p.Ser433Arg) c.*1075C>A (n.*1075C>A) c.1107C>A (p.Ser369Arg) c.1302C>A (p.Ser434Arg) c.1056C>A (p.Ser352Arg) c.1035C>A (p.Ser345Arg) n.1878C>A | |
| 15 | g.91002076C>A | CA393886460 | VPS33B | c.1379G>T (p.Ser460Ile) c.1298G>T (p.Ser433Ile) c.*1074G>T (n.*1074G>T) c.1106G>T (p.Ser369Ile) c.1301G>T (p.Ser434Ile) c.1055G>T (p.Ser352Ile) c.1034G>T (p.Ser345Ile) n.1877G>T | |
| 15 | g.91002076C>G | CA393886461 | VPS33B | c.1379G>C (p.Ser460Thr) c.1298G>C (p.Ser433Thr) c.*1074G>C (n.*1074G>C) c.1106G>C (p.Ser369Thr) c.1301G>C (p.Ser434Thr) c.1055G>C (p.Ser352Thr) c.1034G>C (p.Ser345Thr) n.1877G>C | |
| 15 | g.91002076C>T | CA393886462 | VPS33B | c.1379G>A (p.Ser460Asn) c.1298G>A (p.Ser433Asn) c.*1074G>A (n.*1074G>A) c.1106G>A (p.Ser369Asn) c.1301G>A (p.Ser434Asn) c.1055G>A (p.Ser352Asn) c.1034G>A (p.Ser345Asn) n.1877G>A | |
| 15 | g.91002077T>A | CA393886463 | VPS33B | c.1378A>T (p.Ser460Cys) c.1297A>T (p.Ser433Cys) c.*1073A>T (n.*1073A>T) c.1105A>T (p.Ser369Cys) c.1300A>T (p.Ser434Cys) c.1054A>T (p.Ser352Cys) c.1033A>T (p.Ser345Cys) n.1876A>T | |
| 15 | g.91002077T>C | CA7744669 | VPS33B | c.1378A>G (p.Ser460Gly) c.1297A>G (p.Ser433Gly) c.*1073A>G (n.*1073A>G) c.1105A>G (p.Ser369Gly) c.1300A>G (p.Ser434Gly) c.1054A>G (p.Ser352Gly) c.1033A>G (p.Ser345Gly) n.1876A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.91002077T>G | CA393886464 | VPS33B | c.1378A>C (p.Ser460Arg) c.1297A>C (p.Ser433Arg) c.*1073A>C (n.*1073A>C) c.1105A>C (p.Ser369Arg) c.1300A>C (p.Ser434Arg) c.1054A>C (p.Ser352Arg) c.1033A>C (p.Ser345Arg) n.1876A>C | |
| 15 | g.91002077T= | CA2195398969 | VPS33B | c.1378A= (p.Ser460=) c.1297A= (p.Ser433=) c.*1073A= (n.*1073A=) c.1105A= (p.Ser369=) c.1300A= (p.Ser434=) c.1054A= (p.Ser352=) c.1033A= (p.Ser345=) n.1876A= | |
| 15 | g.91002078C>A | CA492204198 | VPS33B | c.1377G>T (p.Val459=) c.1296G>T (p.Val432=) c.*1072G>T (n.*1072G>T) c.1104G>T (p.Val368=) c.1299G>T (p.Val433=) c.1053G>T (p.Val351=) c.1032G>T (p.Val344=) n.1875G>T | |
| 15 | g.91002078C= | CA2195398970 | VPS33B | c.1377G= (p.Val459=) c.1296G= (p.Val432=) c.*1072G= (n.*1072G=) c.1104G= (p.Val368=) c.1299G= (p.Val433=) c.1053G= (p.Val351=) c.1032G= (p.Val344=) n.1875G= | |
| 15 | g.91002078C>G | CA7744670 | VPS33B | c.1377G>C (p.Val459=) c.1296G>C (p.Val432=) c.*1072G>C (n.*1072G>C) c.1104G>C (p.Val368=) c.1299G>C (p.Val433=) c.1053G>C (p.Val351=) c.1032G>C (p.Val344=) n.1875G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.91002078C>T | CA492204201 | VPS33B | c.1377G>A (p.Val459=) c.1296G>A (p.Val432=) c.*1072G>A (n.*1072G>A) c.1104G>A (p.Val368=) c.1299G>A (p.Val433=) c.1053G>A (p.Val351=) c.1032G>A (p.Val344=) n.1875G>A | |
| 15 | g.91002079A>C | CA393886465 | VPS33B | c.1376T>G (p.Val459Gly) c.1295T>G (p.Val432Gly) c.*1071T>G (n.*1071T>G) c.1103T>G (p.Val368Gly) c.1298T>G (p.Val433Gly) c.1052T>G (p.Val351Gly) c.1031T>G (p.Val344Gly) n.1874T>G | |
| 15 | g.91002079A>G | CA393886466 | VPS33B | c.1376T>C (p.Val459Ala) c.1295T>C (p.Val432Ala) c.*1071T>C (n.*1071T>C) c.1103T>C (p.Val368Ala) c.1298T>C (p.Val433Ala) c.1052T>C (p.Val351Ala) c.1031T>C (p.Val344Ala) n.1874T>C | |
| 15 | g.91002079A>T | CA393886467 | VPS33B | c.1376T>A (p.Val459Glu) c.1295T>A (p.Val432Glu) c.*1071T>A (n.*1071T>A) c.1103T>A (p.Val368Glu) c.1298T>A (p.Val433Glu) c.1052T>A (p.Val351Glu) c.1031T>A (p.Val344Glu) n.1874T>A | |
| 15 | g.91002080C>A | CA393886470 | VPS33B | c.1375G>T (p.Val459Leu) c.1294G>T (p.Val432Leu) c.*1070G>T (n.*1070G>T) c.1102G>T (p.Val368Leu) c.1297G>T (p.Val433Leu) c.1051G>T (p.Val351Leu) c.1030G>T (p.Val344Leu) n.1873G>T | |
| 15 | g.91002080C>G | CA393886469 | VPS33B | c.1375G>C (p.Val459Leu) c.1294G>C (p.Val432Leu) c.*1070G>C (n.*1070G>C) c.1102G>C (p.Val368Leu) c.1297G>C (p.Val433Leu) c.1051G>C (p.Val351Leu) c.1030G>C (p.Val344Leu) n.1873G>C | |
| 15 | g.91002080C>T | CA393886468 | VPS33B | c.1375G>A (p.Val459Met) c.1294G>A (p.Val432Met) c.*1070G>A (n.*1070G>A) c.1102G>A (p.Val368Met) c.1297G>A (p.Val433Met) c.1051G>A (p.Val351Met) c.1030G>A (p.Val344Met) n.1873G>A | |
| 15 | g.91002081T>A | CA393886471 | VPS33B | c.1374A>T (p.Lys458Asn) c.1293A>T (p.Lys431Asn) c.*1069A>T (n.*1069A>T) c.1101A>T (p.Lys367Asn) c.1296A>T (p.Lys432Asn) c.1050A>T (p.Lys350Asn) c.1029A>T (p.Lys343Asn) n.1872A>T | |
| 15 | g.91002081T>C | CA492204210 | VPS33B | c.1374A>G (p.Lys458=) c.1293A>G (p.Lys431=) c.*1069A>G (n.*1069A>G) c.1101A>G (p.Lys367=) c.1296A>G (p.Lys432=) c.1050A>G (p.Lys350=) c.1029A>G (p.Lys343=) n.1872A>G | |
| 15 | g.91002081T>G | CA393886472 | VPS33B | c.1374A>C (p.Lys458Asn) c.1293A>C (p.Lys431Asn) c.*1069A>C (n.*1069A>C) c.1101A>C (p.Lys367Asn) c.1296A>C (p.Lys432Asn) c.1050A>C (p.Lys350Asn) c.1029A>C (p.Lys343Asn) n.1872A>C | |
| 15 | g.91002082T>A | CA393886473 | VPS33B | c.1373A>T (p.Lys458Ile) c.1292A>T (p.Lys431Ile) c.*1068A>T (n.*1068A>T) c.1100A>T (p.Lys367Ile) c.1295A>T (p.Lys432Ile) c.1049A>T (p.Lys350Ile) c.1028A>T (p.Lys343Ile) n.1871A>T | |
| 15 | g.91002082T>C | CA393886474 | VPS33B | c.1373A>G (p.Lys458Arg) c.1292A>G (p.Lys431Arg) c.*1068A>G (n.*1068A>G) c.1100A>G (p.Lys367Arg) c.1295A>G (p.Lys432Arg) c.1049A>G (p.Lys350Arg) c.1028A>G (p.Lys343Arg) n.1871A>G | |
| 15 | g.91002082T>G | CA393886475 | VPS33B | c.1373A>C (p.Lys458Thr) c.1292A>C (p.Lys431Thr) c.*1068A>C (n.*1068A>C) c.1100A>C (p.Lys367Thr) c.1295A>C (p.Lys432Thr) c.1049A>C (p.Lys350Thr) c.1028A>C (p.Lys343Thr) n.1871A>C | |
| 15 | g.91002083T>A | CA393886476 | VPS33B | c.1372A>T (p.Lys458Ter) c.1291A>T (p.Lys431Ter) c.*1067A>T (n.*1067A>T) c.1099A>T (p.Lys367Ter) c.1294A>T (p.Lys432Ter) c.1048A>T (p.Lys350Ter) c.1027A>T (p.Lys343Ter) n.1870A>T | |
| 15 | g.91002083T>C | CA393886477 | VPS33B | c.1372A>G (p.Lys458Glu) c.1291A>G (p.Lys431Glu) c.*1067A>G (n.*1067A>G) c.1099A>G (p.Lys367Glu) c.1294A>G (p.Lys432Glu) c.1048A>G (p.Lys350Glu) c.1027A>G (p.Lys343Glu) n.1870A>G | |
| 15 | g.91002083T>G | CA393886478 | VPS33B | c.1372A>C (p.Lys458Gln) c.1291A>C (p.Lys431Gln) c.*1067A>C (n.*1067A>C) c.1099A>C (p.Lys367Gln) c.1294A>C (p.Lys432Gln) c.1048A>C (p.Lys350Gln) c.1027A>C (p.Lys343Gln) n.1870A>C | |
| 15 | g.91002084A>C | CA393886479 | VPS33B | c.1371T>G (p.Ser457Arg) c.1290T>G (p.Ser430Arg) c.*1066T>G (n.*1066T>G) c.1098T>G (p.Ser366Arg) c.1293T>G (p.Ser431Arg) c.1047T>G (p.Ser349Arg) c.1026T>G (p.Ser342Arg) n.1869T>G | gnomAD v3 gnomAD v4 |
| 15 | g.91002084A>G | CA492204219 | VPS33B | c.1371T>C (p.Ser457=) c.1290T>C (p.Ser430=) c.*1066T>C (n.*1066T>C) c.1098T>C (p.Ser366=) c.1293T>C (p.Ser431=) c.1047T>C (p.Ser349=) c.1026T>C (p.Ser342=) n.1869T>C | |
| 15 | g.91002084A>T | CA393886480 | VPS33B | c.1371T>A (p.Ser457Arg) c.1290T>A (p.Ser430Arg) c.*1066T>A (n.*1066T>A) c.1098T>A (p.Ser366Arg) c.1293T>A (p.Ser431Arg) c.1047T>A (p.Ser349Arg) c.1026T>A (p.Ser342Arg) n.1869T>A | |
| 15 | g.91002084dup | CA2839421313 | VPS33B | c.1371dup (p.Lys458Ter) c.1290dup (p.Lys431Ter) c.*1066dup (n.*1066dup) c.1098dup (p.Lys367Ter) c.1293dup (p.Lys432Ter) c.1047dup (p.Lys350Ter) c.1026dup (p.Lys343Ter) n.1869dup | |
| 15 | g.91002084_91002086delinsACT | CA2195398971 | VPS33B | c.1369_1371delinsAGT (p.Ser457=) c.1288_1290delinsAGT (p.Ser430=) c.*1064_*1066delinsAGT (n.*1064_*1066delinsAGT) c.1096_1098delinsAGT (p.Ser366=) c.1291_1293delinsAGT (p.Ser431=) c.1045_1047delinsAGT (p.Ser349=) c.1024_1026delinsAGT (p.Ser342=) n.1867_1869delinsAGT | |
| 15 | g.91002085C>A | CA393886481 | VPS33B | c.1370G>T (p.Ser457Ile) c.1289G>T (p.Ser430Ile) c.*1065G>T (n.*1065G>T) c.1097G>T (p.Ser366Ile) c.1292G>T (p.Ser431Ile) c.1046G>T (p.Ser349Ile) c.1025G>T (p.Ser342Ile) n.1868G>T | |
| 15 | g.91002085C= | CA2195398972 | VPS33B | c.1370G= (p.Ser457=) c.1289G= (p.Ser430=) c.*1065G= (n.*1065G=) c.1097G= (p.Ser366=) c.1292G= (p.Ser431=) c.1046G= (p.Ser349=) c.1025G= (p.Ser342=) n.1868G= | |
| 15 | g.91002085C>G | CA393886482 | VPS33B | c.1370G>C (p.Ser457Thr) c.1289G>C (p.Ser430Thr) c.*1065G>C (n.*1065G>C) c.1097G>C (p.Ser366Thr) c.1292G>C (p.Ser431Thr) c.1046G>C (p.Ser349Thr) c.1025G>C (p.Ser342Thr) n.1868G>C | |
| 15 | g.91002085C>T | CA7744671 | VPS33B | c.1370G>A (p.Ser457Asn) c.1289G>A (p.Ser430Asn) c.*1065G>A (n.*1065G>A) c.1097G>A (p.Ser366Asn) c.1292G>A (p.Ser431Asn) c.1046G>A (p.Ser349Asn) c.1025G>A (p.Ser342Asn) n.1868G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002088_91002089del | CA972738235 | VPS33B | c.1369_1370del (p.Ser457Ter) c.1288_1289del (p.Ser430Ter) c.*1064_*1065del (n.*1064_*1065del) c.1096_1097del (p.Ser366Ter) c.1291_1292del (p.Ser431Ter) c.1045_1046del (p.Ser349Ter) c.1024_1025del (p.Ser342Ter) n.1867_1868del | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.91002086T>A | CA393886484 | VPS33B | c.1369A>T (p.Ser457Cys) c.1288A>T (p.Ser430Cys) c.*1064A>T (n.*1064A>T) c.1096A>T (p.Ser366Cys) c.1291A>T (p.Ser431Cys) c.1045A>T (p.Ser349Cys) c.1024A>T (p.Ser342Cys) n.1867A>T | |
| 15 | g.91002086T>C | CA393886485 | VPS33B | c.1369A>G (p.Ser457Gly) c.1288A>G (p.Ser430Gly) c.*1064A>G (n.*1064A>G) c.1096A>G (p.Ser366Gly) c.1291A>G (p.Ser431Gly) c.1045A>G (p.Ser349Gly) c.1024A>G (p.Ser342Gly) n.1867A>G | |
| 15 | g.91002086T>G | CA393886483 | VPS33B | c.1369A>C (p.Ser457Arg) c.1288A>C (p.Ser430Arg) c.*1064A>C (n.*1064A>C) c.1096A>C (p.Ser366Arg) c.1291A>C (p.Ser431Arg) c.1045A>C (p.Ser349Arg) c.1024A>C (p.Ser342Arg) n.1867A>C | gnomAD v4 |
| 15 | g.91002087C>A | CA393886486 | VPS33B | c.1368G>T (p.Glu456Asp) c.1287G>T (p.Glu429Asp) c.*1063G>T (n.*1063G>T) c.1095G>T (p.Glu365Asp) c.1290G>T (p.Glu430Asp) c.1044G>T (p.Glu348Asp) c.1023G>T (p.Glu341Asp) n.1866G>T | |
| 15 | g.91002087C>G | CA393886487 | VPS33B | c.1368G>C (p.Glu456Asp) c.1287G>C (p.Glu429Asp) c.*1063G>C (n.*1063G>C) c.1095G>C (p.Glu365Asp) c.1290G>C (p.Glu430Asp) c.1044G>C (p.Glu348Asp) c.1023G>C (p.Glu341Asp) n.1866G>C | ClinVar |
| 15 | g.91002087C>T | CA492204230 | VPS33B | c.1368G>A (p.Glu456=) c.1287G>A (p.Glu429=) c.*1063G>A (n.*1063G>A) c.1095G>A (p.Glu365=) c.1290G>A (p.Glu430=) c.1044G>A (p.Glu348=) c.1023G>A (p.Glu341=) n.1866G>A | |
| 15 | g.91002088T>A | CA393886488 | VPS33B | c.1367A>T (p.Glu456Val) c.1286A>T (p.Glu429Val) c.*1062A>T (n.*1062A>T) c.1094A>T (p.Glu365Val) c.1289A>T (p.Glu430Val) c.1043A>T (p.Glu348Val) c.1022A>T (p.Glu341Val) n.1865A>T | |
| 15 | g.91002088T>C | CA393886489 | VPS33B | c.1367A>G (p.Glu456Gly) c.1286A>G (p.Glu429Gly) c.*1062A>G (n.*1062A>G) c.1094A>G (p.Glu365Gly) c.1289A>G (p.Glu430Gly) c.1043A>G (p.Glu348Gly) c.1022A>G (p.Glu341Gly) n.1865A>G | ClinVar gnomAD v4 |
| 15 | g.91002088T>G | CA393886490 | VPS33B | c.1367A>C (p.Glu456Ala) c.1286A>C (p.Glu429Ala) c.*1062A>C (n.*1062A>C) c.1094A>C (p.Glu365Ala) c.1289A>C (p.Glu430Ala) c.1043A>C (p.Glu348Ala) c.1022A>C (p.Glu341Ala) n.1865A>C | |
| 15 | g.91002089C>A | CA393886491 | VPS33B | c.1366G>T (p.Glu456Ter) c.1285G>T (p.Glu429Ter) c.*1061G>T (n.*1061G>T) c.1093G>T (p.Glu365Ter) c.1288G>T (p.Glu430Ter) c.1042G>T (p.Glu348Ter) c.1021G>T (p.Glu341Ter) n.1864G>T | |
| 15 | g.91002089C>G | CA393886492 | VPS33B | c.1366G>C (p.Glu456Gln) c.1285G>C (p.Glu429Gln) c.*1061G>C (n.*1061G>C) c.1093G>C (p.Glu365Gln) c.1288G>C (p.Glu430Gln) c.1042G>C (p.Glu348Gln) c.1021G>C (p.Glu341Gln) n.1864G>C | |
| 15 | g.91002089C>T | CA393886493 | VPS33B | c.1366G>A (p.Glu456Lys) c.1285G>A (p.Glu429Lys) c.*1061G>A (n.*1061G>A) c.1093G>A (p.Glu365Lys) c.1288G>A (p.Glu430Lys) c.1042G>A (p.Glu348Lys) c.1021G>A (p.Glu341Lys) n.1864G>A | COSMIC |
| 15 | g.91002090C>A | CA492204237 | VPS33B | c.1365G>T (p.Val455=) c.1284G>T (p.Val428=) c.*1060G>T (n.*1060G>T) c.1092G>T (p.Val364=) c.1287G>T (p.Val429=) c.1041G>T (p.Val347=) c.1020G>T (p.Val340=) n.1863G>T | |
| 15 | g.91002090C= | CA2195398973 | VPS33B | c.1365G= (p.Val455=) c.1284G= (p.Val428=) c.*1060G= (n.*1060G=) c.1092G= (p.Val364=) c.1287G= (p.Val429=) c.1041G= (p.Val347=) c.1020G= (p.Val340=) n.1863G= | |
| 15 | g.91002090C>G | CA492204240 | VPS33B | c.1365G>C (p.Val455=) c.1284G>C (p.Val428=) c.*1060G>C (n.*1060G>C) c.1092G>C (p.Val364=) c.1287G>C (p.Val429=) c.1041G>C (p.Val347=) c.1020G>C (p.Val340=) n.1863G>C | dbSNP gnomAD v4 |
| 15 | g.91002090C>T | CA492204238 | VPS33B | c.1365G>A (p.Val455=) c.1284G>A (p.Val428=) c.*1060G>A (n.*1060G>A) c.1092G>A (p.Val364=) c.1287G>A (p.Val429=) c.1041G>A (p.Val347=) c.1020G>A (p.Val340=) n.1863G>A | dbSNP |
| 15 | g.91002091A>C | CA393886494 | VPS33B | c.1364T>G (p.Val455Gly) c.1283T>G (p.Val428Gly) c.*1059T>G (n.*1059T>G) c.1091T>G (p.Val364Gly) c.1286T>G (p.Val429Gly) c.1040T>G (p.Val347Gly) c.1019T>G (p.Val340Gly) n.1862T>G | |
| 15 | g.91002091A>G | CA393886496 | VPS33B | c.1364T>C (p.Val455Ala) c.1283T>C (p.Val428Ala) c.*1059T>C (n.*1059T>C) c.1091T>C (p.Val364Ala) c.1286T>C (p.Val429Ala) c.1040T>C (p.Val347Ala) c.1019T>C (p.Val340Ala) n.1862T>C | |
| 15 | g.91002091A>T | CA393886495 | VPS33B | c.1364T>A (p.Val455Glu) c.1283T>A (p.Val428Glu) c.*1059T>A (n.*1059T>A) c.1091T>A (p.Val364Glu) c.1286T>A (p.Val429Glu) c.1040T>A (p.Val347Glu) c.1019T>A (p.Val340Glu) n.1862T>A | |
| 15 | g.91002092C>A | CA393886497 | VPS33B | c.1363G>T (p.Val455Leu) c.1282G>T (p.Val428Leu) c.*1058G>T (n.*1058G>T) c.1090G>T (p.Val364Leu) c.1285G>T (p.Val429Leu) c.1039G>T (p.Val347Leu) c.1018G>T (p.Val340Leu) n.1861G>T | |
| 15 | g.91002092C= | CA2195398974 | VPS33B | c.1363G= (p.Val455=) c.1282G= (p.Val428=) c.*1058G= (n.*1058G=) c.1090G= (p.Val364=) c.1285G= (p.Val429=) c.1039G= (p.Val347=) c.1018G= (p.Val340=) n.1861G= | |
| 15 | g.91002092C>G | CA393886498 | VPS33B | c.1363G>C (p.Val455Leu) c.1282G>C (p.Val428Leu) c.*1058G>C (n.*1058G>C) c.1090G>C (p.Val364Leu) c.1285G>C (p.Val429Leu) c.1039G>C (p.Val347Leu) c.1018G>C (p.Val340Leu) n.1861G>C | |
| 15 | g.91002092C>T | CA7744672 | VPS33B | c.1363G>A (p.Val455Met) c.1282G>A (p.Val428Met) c.*1058G>A (n.*1058G>A) c.1090G>A (p.Val364Met) c.1285G>A (p.Val429Met) c.1039G>A (p.Val347Met) c.1018G>A (p.Val340Met) n.1861G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002093G>A | CA7744673 | VPS33B | c.1362C>T (p.Ala454=) c.1281C>T (p.Ala427=) c.*1057C>T (n.*1057C>T) c.1089C>T (p.Ala363=) c.1284C>T (p.Ala428=) c.1038C>T (p.Ala346=) c.1017C>T (p.Ala339=) n.1860C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002093G>C | CA492204249 | VPS33B | c.1362C>G (p.Ala454=) c.1281C>G (p.Ala427=) c.*1057C>G (n.*1057C>G) c.1089C>G (p.Ala363=) c.1284C>G (p.Ala428=) c.1038C>G (p.Ala346=) c.1017C>G (p.Ala339=) n.1860C>G | gnomAD v4 |
| 15 | g.91002093G= | CA2195398975 | VPS33B | c.1362C= (p.Ala454=) c.1281C= (p.Ala427=) c.*1057C= (n.*1057C=) c.1089C= (p.Ala363=) c.1284C= (p.Ala428=) c.1038C= (p.Ala346=) c.1017C= (p.Ala339=) n.1860C= | |
| 15 | g.91002093G>T | CA492204251 | VPS33B | c.1362C>A (p.Ala454=) c.1281C>A (p.Ala427=) c.*1057C>A (n.*1057C>A) c.1089C>A (p.Ala363=) c.1284C>A (p.Ala428=) c.1038C>A (p.Ala346=) c.1017C>A (p.Ala339=) n.1860C>A | gnomAD v4 |
| 15 | g.91002094dup | CA2805217630 | VPS33B | c.1362dup (p.Val455ArgfsTer4) c.1281dup (p.Val428ArgfsTer4) c.*1057dup (n.*1057dup) c.1089dup (p.Val364ArgfsTer4) c.1284dup (p.Val429ArgfsTer4) c.1038dup (p.Val347ArgfsTer4) c.1017dup (p.Val340ArgfsTer4) n.1860dup | |
| 15 | g.91002094G>A | CA393886499 | VPS33B | c.1361C>T (p.Ala454Val) c.1280C>T (p.Ala427Val) c.*1056C>T (n.*1056C>T) c.1088C>T (p.Ala363Val) c.1283C>T (p.Ala428Val) c.1037C>T (p.Ala346Val) c.1016C>T (p.Ala339Val) n.1859C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.91002094G>C | CA393886501 | VPS33B | c.1361C>G (p.Ala454Gly) c.1280C>G (p.Ala427Gly) c.*1056C>G (n.*1056C>G) c.1088C>G (p.Ala363Gly) c.1283C>G (p.Ala428Gly) c.1037C>G (p.Ala346Gly) c.1016C>G (p.Ala339Gly) n.1859C>G | |
| 15 | g.91002094G= | CA2195398976 | VPS33B | c.1361C= (p.Ala454=) c.1280C= (p.Ala427=) c.*1056C= (n.*1056C=) c.1088C= (p.Ala363=) c.1283C= (p.Ala428=) c.1037C= (p.Ala346=) c.1016C= (p.Ala339=) n.1859C= | |
| 15 | g.91002094G>T | CA393886500 | VPS33B | c.1361C>A (p.Ala454Asp) c.1280C>A (p.Ala427Asp) c.*1056C>A (n.*1056C>A) c.1088C>A (p.Ala363Asp) c.1283C>A (p.Ala428Asp) c.1037C>A (p.Ala346Asp) c.1016C>A (p.Ala339Asp) n.1859C>A | |
| 15 | g.91002095C>A | CA393886502 | VPS33B | c.1360G>T (p.Ala454Ser) c.1279G>T (p.Ala427Ser) c.*1055G>T (n.*1055G>T) c.1087G>T (p.Ala363Ser) c.1282G>T (p.Ala428Ser) c.1036G>T (p.Ala346Ser) c.1015G>T (p.Ala339Ser) n.1858G>T | |
| 15 | g.91002095C>G | CA393886503 | VPS33B | c.1360G>C (p.Ala454Pro) c.1279G>C (p.Ala427Pro) c.*1055G>C (n.*1055G>C) c.1087G>C (p.Ala363Pro) c.1282G>C (p.Ala428Pro) c.1036G>C (p.Ala346Pro) c.1015G>C (p.Ala339Pro) n.1858G>C | |
| 15 | g.91002095C>T | CA393886504 | VPS33B | c.1360G>A (p.Ala454Thr) c.1279G>A (p.Ala427Thr) c.*1055G>A (n.*1055G>A) c.1087G>A (p.Ala363Thr) c.1282G>A (p.Ala428Thr) c.1036G>A (p.Ala346Thr) c.1015G>A (p.Ala339Thr) n.1858G>A | |
| 15 | g.91002096T>A | CA492204258 | VPS33B | c.1359A>T (p.Thr453=) c.1278A>T (p.Thr426=) c.*1054A>T (n.*1054A>T) c.1086A>T (p.Thr362=) c.1281A>T (p.Thr427=) c.1035A>T (p.Thr345=) c.1014A>T (p.Thr338=) n.1857A>T | |
| 15 | g.91002096T>C | CA7744674 | VPS33B | c.1359A>G (p.Thr453=) c.1278A>G (p.Thr426=) c.*1054A>G (n.*1054A>G) c.1086A>G (p.Thr362=) c.1281A>G (p.Thr427=) c.1035A>G (p.Thr345=) c.1014A>G (p.Thr338=) n.1857A>G | dbSNP ExAC |
| 15 | g.91002096T>G | CA492204261 | VPS33B | c.1359A>C (p.Thr453=) c.1278A>C (p.Thr426=) c.*1054A>C (n.*1054A>C) c.1086A>C (p.Thr362=) c.1281A>C (p.Thr427=) c.1035A>C (p.Thr345=) c.1014A>C (p.Thr338=) n.1857A>C | |
| 15 | g.91002096T= | CA2195398977 | VPS33B | c.1359A= (p.Thr453=) c.1278A= (p.Thr426=) c.*1054A= (n.*1054A=) c.1086A= (p.Thr362=) c.1281A= (p.Thr427=) c.1035A= (p.Thr345=) c.1014A= (p.Thr338=) n.1857A= | |
| 15 | g.91002097G>A | CA393886505 | VPS33B | c.1358C>T (p.Thr453Ile) c.1277C>T (p.Thr426Ile) c.*1053C>T (n.*1053C>T) c.1085C>T (p.Thr362Ile) c.1280C>T (p.Thr427Ile) c.1034C>T (p.Thr345Ile) c.1013C>T (p.Thr338Ile) n.1856C>T | gnomAD v4 |
| 15 | g.91002097G>C | CA393886506 | VPS33B | c.1358C>G (p.Thr453Arg) c.1277C>G (p.Thr426Arg) c.*1053C>G (n.*1053C>G) c.1085C>G (p.Thr362Arg) c.1280C>G (p.Thr427Arg) c.1034C>G (p.Thr345Arg) c.1013C>G (p.Thr338Arg) n.1856C>G | |
| 15 | g.91002097G>T | CA393886507 | VPS33B | c.1358C>A (p.Thr453Lys) c.1277C>A (p.Thr426Lys) c.*1053C>A (n.*1053C>A) c.1085C>A (p.Thr362Lys) c.1280C>A (p.Thr427Lys) c.1034C>A (p.Thr345Lys) c.1013C>A (p.Thr338Lys) n.1856C>A | |
| 15 | g.91002098T>A | CA393886508 | VPS33B | c.1357A>T (p.Thr453Ser) c.1276A>T (p.Thr426Ser) c.*1052A>T (n.*1052A>T) c.1084A>T (p.Thr362Ser) c.1279A>T (p.Thr427Ser) c.1033A>T (p.Thr345Ser) c.1012A>T (p.Thr338Ser) n.1855A>T | |
| 15 | g.91002098T>C | CA393886509 | VPS33B | c.1357A>G (p.Thr453Ala) c.1276A>G (p.Thr426Ala) c.*1052A>G (n.*1052A>G) c.1084A>G (p.Thr362Ala) c.1279A>G (p.Thr427Ala) c.1033A>G (p.Thr345Ala) c.1012A>G (p.Thr338Ala) n.1855A>G | |
| 15 | g.91002098T>G | CA393886510 | VPS33B | c.1357A>C (p.Thr453Pro) c.1276A>C (p.Thr426Pro) c.*1052A>C (n.*1052A>C) c.1084A>C (p.Thr362Pro) c.1279A>C (p.Thr427Pro) c.1033A>C (p.Thr345Pro) c.1012A>C (p.Thr338Pro) n.1855A>C | |
| 15 | g.91002098_91002100delinsTGA | CA2195398978 | VPS33B | c.1355_1357delinsTCA (p.Leu452=) c.1274_1276delinsTCA (p.Leu425=) c.*1050_*1052delinsTCA (n.*1050_*1052delinsTCA) c.1082_1084delinsTCA (p.Leu361=) c.1277_1279delinsTCA (p.Leu426=) c.1031_1033delinsTCA (p.Leu344=) c.1010_1012delinsTCA (p.Leu337=) n.1853_1855delinsTCA | |
| 15 | g.91002099G>A | CA492204268 | VPS33B | c.1356C>T (p.Leu452=) c.1275C>T (p.Leu425=) c.*1051C>T (n.*1051C>T) c.1083C>T (p.Leu361=) c.1278C>T (p.Leu426=) c.1032C>T (p.Leu344=) c.1011C>T (p.Leu337=) n.1854C>T | |
| 15 | g.91002099G>C | CA492204270 | VPS33B | c.1356C>G (p.Leu452=) c.1275C>G (p.Leu425=) c.*1051C>G (n.*1051C>G) c.1083C>G (p.Leu361=) c.1278C>G (p.Leu426=) c.1032C>G (p.Leu344=) c.1011C>G (p.Leu337=) n.1854C>G | dbSNP gnomAD v4 |
| 15 | g.91002099G= | CA2195398980 | VPS33B | c.1356C= (p.Leu452=) c.1275C= (p.Leu425=) c.*1051C= (n.*1051C=) c.1083C= (p.Leu361=) c.1278C= (p.Leu426=) c.1032C= (p.Leu344=) c.1011C= (p.Leu337=) n.1854C= | |
| 15 | g.91002099G>T | CA274811312 | VPS33B | c.1356C>A (p.Leu452=) c.1275C>A (p.Leu425=) c.*1051C>A (n.*1051C>A) c.1083C>A (p.Leu361=) c.1278C>A (p.Leu426=) c.1032C>A (p.Leu344=) c.1011C>A (p.Leu337=) n.1854C>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.91002100_91002101del | CA2195398979 | VPS33B | c.1355_1356del (p.Leu452HisfsTer6) c.1274_1275del (p.Leu425HisfsTer6) c.*1050_*1051del (n.*1050_*1051del) c.1082_1083del (p.Leu361HisfsTer6) c.1277_1278del (p.Leu426HisfsTer6) c.1031_1032del (p.Leu344HisfsTer6) c.1010_1011del (p.Leu337HisfsTer6) n.1853_1854del | dbSNP |
| 15 | g.91002100A>C | CA393886511 | VPS33B | c.1355T>G (p.Leu452Arg) c.1274T>G (p.Leu425Arg) c.*1050T>G (n.*1050T>G) c.1082T>G (p.Leu361Arg) c.1277T>G (p.Leu426Arg) c.1031T>G (p.Leu344Arg) c.1010T>G (p.Leu337Arg) n.1853T>G | |
| 15 | g.91002100A>G | CA393886513 | VPS33B | c.1355T>C (p.Leu452Pro) c.1274T>C (p.Leu425Pro) c.*1050T>C (n.*1050T>C) c.1082T>C (p.Leu361Pro) c.1277T>C (p.Leu426Pro) c.1031T>C (p.Leu344Pro) c.1010T>C (p.Leu337Pro) n.1853T>C | |
| 15 | g.91002100A>T | CA393886512 | VPS33B | c.1355T>A (p.Leu452His) c.1274T>A (p.Leu425His) c.*1050T>A (n.*1050T>A) c.1082T>A (p.Leu361His) c.1277T>A (p.Leu426His) c.1031T>A (p.Leu344His) c.1010T>A (p.Leu337His) n.1853T>A | |
| 15 | g.91002101G>A | CA393886514 | VPS33B | c.1354C>T (p.Leu452Phe) c.1273C>T (p.Leu425Phe) c.*1049C>T (n.*1049C>T) c.1081C>T (p.Leu361Phe) c.1276C>T (p.Leu426Phe) c.1030C>T (p.Leu344Phe) c.1009C>T (p.Leu337Phe) n.1852C>T | |
| 15 | g.91002101G>C | CA393886515 | VPS33B | c.1354C>G (p.Leu452Val) c.1273C>G (p.Leu425Val) c.*1049C>G (n.*1049C>G) c.1081C>G (p.Leu361Val) c.1276C>G (p.Leu426Val) c.1030C>G (p.Leu344Val) c.1009C>G (p.Leu337Val) n.1852C>G | |
| 15 | g.91002101G>T | CA393886516 | VPS33B | c.1354C>A (p.Leu452Ile) c.1273C>A (p.Leu425Ile) c.*1049C>A (n.*1049C>A) c.1081C>A (p.Leu361Ile) c.1276C>A (p.Leu426Ile) c.1030C>A (p.Leu344Ile) c.1009C>A (p.Leu337Ile) n.1852C>A | |
| 15 | g.91002102G>A | CA492204279 | VPS33B | c.1353C>T (p.Thr451=) c.1272C>T (p.Thr424=) c.*1048C>T (n.*1048C>T) c.1080C>T (p.Thr360=) c.1275C>T (p.Thr425=) c.1029C>T (p.Thr343=) c.1008C>T (p.Thr336=) n.1851C>T | |
| 15 | g.91002102G>C | CA492204280 | VPS33B | c.1353C>G (p.Thr451=) c.1272C>G (p.Thr424=) c.*1048C>G (n.*1048C>G) c.1080C>G (p.Thr360=) c.1275C>G (p.Thr425=) c.1029C>G (p.Thr343=) c.1008C>G (p.Thr336=) n.1851C>G | |
| 15 | g.91002102G= | CA2195398981 | VPS33B | c.1353C= (p.Thr451=) c.1272C= (p.Thr424=) c.*1048C= (n.*1048C=) c.1080C= (p.Thr360=) c.1275C= (p.Thr425=) c.1029C= (p.Thr343=) c.1008C= (p.Thr336=) n.1851C= | |
| 15 | g.91002102G>T | CA7744675 | VPS33B | c.1353C>A (p.Thr451=) c.1272C>A (p.Thr424=) c.*1048C>A (n.*1048C>A) c.1080C>A (p.Thr360=) c.1275C>A (p.Thr425=) c.1029C>A (p.Thr343=) c.1008C>A (p.Thr336=) n.1851C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.91002103G>A | CA393886517 | VPS33B | c.1352C>T (p.Thr451Ile) c.1271C>T (p.Thr424Ile) c.*1047C>T (n.*1047C>T) c.1079C>T (p.Thr360Ile) c.1274C>T (p.Thr425Ile) c.1028C>T (p.Thr343Ile) c.1007C>T (p.Thr336Ile) n.1850C>T | |
| 15 | g.91002103G>C | CA393886518 | VPS33B | c.1352C>G (p.Thr451Ser) c.1271C>G (p.Thr424Ser) c.*1047C>G (n.*1047C>G) c.1079C>G (p.Thr360Ser) c.1274C>G (p.Thr425Ser) c.1028C>G (p.Thr343Ser) c.1007C>G (p.Thr336Ser) n.1850C>G | |
| 15 | g.91002103G= | CA2195398982 | VPS33B | c.1352C= (p.Thr451=) c.1271C= (p.Thr424=) c.*1047C= (n.*1047C=) c.1079C= (p.Thr360=) c.1274C= (p.Thr425=) c.1028C= (p.Thr343=) c.1007C= (p.Thr336=) n.1850C= | |
| 15 | g.91002103G>T | CA393886519 | VPS33B | c.1352C>A (p.Thr451Asn) c.1271C>A (p.Thr424Asn) c.*1047C>A (n.*1047C>A) c.1079C>A (p.Thr360Asn) c.1274C>A (p.Thr425Asn) c.1028C>A (p.Thr343Asn) c.1007C>A (p.Thr336Asn) n.1850C>A | dbSNP gnomAD v4 |
| 15 | g.91002104T>A | CA393886520 | VPS33B | c.1351A>T (p.Thr451Ser) c.1270A>T (p.Thr424Ser) c.*1046A>T (n.*1046A>T) c.1078A>T (p.Thr360Ser) c.1273A>T (p.Thr425Ser) c.1027A>T (p.Thr343Ser) c.1006A>T (p.Thr336Ser) n.1849A>T | |
| 15 | g.91002104T>C | CA7744676 | VPS33B | c.1351A>G (p.Thr451Ala) c.1270A>G (p.Thr424Ala) c.*1046A>G (n.*1046A>G) c.1078A>G (p.Thr360Ala) c.1273A>G (p.Thr425Ala) c.1027A>G (p.Thr343Ala) c.1006A>G (p.Thr336Ala) n.1849A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002104T>G | CA393886521 | VPS33B | c.1351A>C (p.Thr451Pro) c.1270A>C (p.Thr424Pro) c.*1046A>C (n.*1046A>C) c.1078A>C (p.Thr360Pro) c.1273A>C (p.Thr425Pro) c.1027A>C (p.Thr343Pro) c.1006A>C (p.Thr336Pro) n.1849A>C | |
| 15 | g.91002104T= | CA2195398983 | VPS33B | c.1351A= (p.Thr451=) c.1270A= (p.Thr424=) c.*1046A= (n.*1046A=) c.1078A= (p.Thr360=) c.1273A= (p.Thr425=) c.1027A= (p.Thr343=) c.1006A= (p.Thr336=) n.1849A= | |
| 15 | g.91002105G>A | CA7744677 | VPS33B | c.1350C>T (p.Asp450=) c.1269C>T (p.Asp423=) c.*1045C>T (n.*1045C>T) c.1077C>T (p.Asp359=) c.1272C>T (p.Asp424=) c.1026C>T (p.Asp342=) c.1005C>T (p.Asp335=) n.1848C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.91002105G>C | CA393886522 | VPS33B | c.1350C>G (p.Asp450Glu) c.1269C>G (p.Asp423Glu) c.*1045C>G (n.*1045C>G) c.1077C>G (p.Asp359Glu) c.1272C>G (p.Asp424Glu) c.1026C>G (p.Asp342Glu) c.1005C>G (p.Asp335Glu) n.1848C>G | |
| 15 | g.91002105G= | CA2195398984 | VPS33B | c.1350C= (p.Asp450=) c.1269C= (p.Asp423=) c.*1045C= (n.*1045C=) c.1077C= (p.Asp359=) c.1272C= (p.Asp424=) c.1026C= (p.Asp342=) c.1005C= (p.Asp335=) n.1848C= | |
| 15 | g.91002105G>T | CA274811332 | VPS33B | c.1350C>A (p.Asp450Glu) c.1269C>A (p.Asp423Glu) c.*1045C>A (n.*1045C>A) c.1077C>A (p.Asp359Glu) c.1272C>A (p.Asp424Glu) c.1026C>A (p.Asp342Glu) c.1005C>A (p.Asp335Glu) n.1848C>A | dbSNP gnomAD v4 |
| 15 | g.91002106T>A | CA393886523 | VPS33B | c.1349A>T (p.Asp450Val) c.1268A>T (p.Asp423Val) c.*1044A>T (n.*1044A>T) c.1076A>T (p.Asp359Val) c.1271A>T (p.Asp424Val) c.1025A>T (p.Asp342Val) c.1004A>T (p.Asp335Val) n.1847A>T | |
| 15 | g.91002106T>C | CA393886525 | VPS33B | c.1349A>G (p.Asp450Gly) c.1268A>G (p.Asp423Gly) c.*1044A>G (n.*1044A>G) c.1076A>G (p.Asp359Gly) c.1271A>G (p.Asp424Gly) c.1025A>G (p.Asp342Gly) c.1004A>G (p.Asp335Gly) n.1847A>G | |
| 15 | g.91002106T>G | CA393886524 | VPS33B | c.1349A>C (p.Asp450Ala) c.1268A>C (p.Asp423Ala) c.*1044A>C (n.*1044A>C) c.1076A>C (p.Asp359Ala) c.1271A>C (p.Asp424Ala) c.1025A>C (p.Asp342Ala) c.1004A>C (p.Asp335Ala) n.1847A>C | |
| 15 | g.91002107C>A | CA393886526 | VPS33B | c.1348G>T (p.Asp450Tyr) c.1267G>T (p.Asp423Tyr) c.*1043G>T (n.*1043G>T) c.1075G>T (p.Asp359Tyr) c.1270G>T (p.Asp424Tyr) c.1024G>T (p.Asp342Tyr) c.1003G>T (p.Asp335Tyr) n.1846G>T | |
| 15 | g.91002107C>G | CA393886527 | VPS33B | c.1348G>C (p.Asp450His) c.1267G>C (p.Asp423His) c.*1043G>C (n.*1043G>C) c.1075G>C (p.Asp359His) c.1270G>C (p.Asp424His) c.1024G>C (p.Asp342His) c.1003G>C (p.Asp335His) n.1846G>C | |
| 15 | g.91002107C>T | CA393886528 | VPS33B | c.1348G>A (p.Asp450Asn) c.1267G>A (p.Asp423Asn) c.*1043G>A (n.*1043G>A) c.1075G>A (p.Asp359Asn) c.1270G>A (p.Asp424Asn) c.1024G>A (p.Asp342Asn) c.1003G>A (p.Asp335Asn) n.1846G>A | gnomAD v4 |
| 15 | g.91002110del | CA2805217631 | VPS33B | c.1348del (p.Asp450ThrfsTer10) c.1267del (p.Asp423ThrfsTer10) c.*1043del (n.*1043del) c.1075del (p.Asp359ThrfsTer10) c.1270del (p.Asp424ThrfsTer10) c.1024del (p.Asp342ThrfsTer10) c.1003del (p.Asp335ThrfsTer10) n.1846del | |
| 15 | g.91002108C>A | CA492204297 | VPS33B | c.1347G>T (p.Gly449=) c.1266G>T (p.Gly422=) c.*1042G>T (n.*1042G>T) c.1074G>T (p.Gly358=) c.1269G>T (p.Gly423=) c.1023G>T (p.Gly341=) c.1002G>T (p.Gly334=) n.1845G>T | |
| 15 | g.91002108C>G | CA492204299 | VPS33B | c.1347G>C (p.Gly449=) c.1266G>C (p.Gly422=) c.*1042G>C (n.*1042G>C) c.1074G>C (p.Gly358=) c.1269G>C (p.Gly423=) c.1023G>C (p.Gly341=) c.1002G>C (p.Gly334=) n.1845G>C | |
| 15 | g.91002108C>T | CA492204301 | VPS33B | c.1347G>A (p.Gly449=) c.1266G>A (p.Gly422=) c.*1042G>A (n.*1042G>A) c.1074G>A (p.Gly358=) c.1269G>A (p.Gly423=) c.1023G>A (p.Gly341=) c.1002G>A (p.Gly334=) n.1845G>A | |
| 15 | g.91002109C>A | CA393886529 | VPS33B | c.1346G>T (p.Gly449Val) c.1265G>T (p.Gly422Val) c.*1041G>T (n.*1041G>T) c.1073G>T (p.Gly358Val) c.1268G>T (p.Gly423Val) c.1022G>T (p.Gly341Val) c.1001G>T (p.Gly334Val) n.1844G>T | |
| 15 | g.91002109C>G | CA393886530 | VPS33B | c.1346G>C (p.Gly449Ala) c.1265G>C (p.Gly422Ala) c.*1041G>C (n.*1041G>C) c.1073G>C (p.Gly358Ala) c.1268G>C (p.Gly423Ala) c.1022G>C (p.Gly341Ala) c.1001G>C (p.Gly334Ala) n.1844G>C | |
| 15 | g.91002109C>T | CA393886531 | VPS33B | c.1346G>A (p.Gly449Glu) c.1265G>A (p.Gly422Glu) c.*1041G>A (n.*1041G>A) c.1073G>A (p.Gly358Glu) c.1268G>A (p.Gly423Glu) c.1022G>A (p.Gly341Glu) c.1001G>A (p.Gly334Glu) n.1844G>A | |
| 15 | g.91002110C>A | CA393886532 | VPS33B | c.1345G>T (p.Gly449Trp) c.1264G>T (p.Gly422Trp) c.*1040G>T (n.*1040G>T) c.1072G>T (p.Gly358Trp) c.1267G>T (p.Gly423Trp) c.1021G>T (p.Gly341Trp) c.1000G>T (p.Gly334Trp) n.1843G>T | |
| 15 | g.91002110C= | CA2195398985 | VPS33B | c.1345G= (p.Gly449=) c.1264G= (p.Gly422=) c.*1040G= (n.*1040G=) c.1072G= (p.Gly358=) c.1267G= (p.Gly423=) c.1021G= (p.Gly341=) c.1000G= (p.Gly334=) n.1843G= | |
| 15 | g.91002110C>G | CA393886533 | VPS33B | c.1345G>C (p.Gly449Arg) c.1264G>C (p.Gly422Arg) c.*1040G>C (n.*1040G>C) c.1072G>C (p.Gly358Arg) c.1267G>C (p.Gly423Arg) c.1021G>C (p.Gly341Arg) c.1000G>C (p.Gly334Arg) n.1843G>C | dbSNP |
| 15 | g.91002110C>T | CA7744678 | VPS33B | c.1345G>A (p.Gly449Arg) c.1264G>A (p.Gly422Arg) c.*1040G>A (n.*1040G>A) c.1072G>A (p.Gly358Arg) c.1267G>A (p.Gly423Arg) c.1021G>A (p.Gly341Arg) c.1000G>A (p.Gly334Arg) n.1843G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002111G>A | CA492204308 | VPS33B | c.1344C>T (p.Pro448=) c.1263C>T (p.Pro421=) c.*1039C>T (n.*1039C>T) c.1071C>T (p.Pro357=) c.1266C>T (p.Pro422=) c.1020C>T (p.Pro340=) c.999C>T (p.Pro333=) n.1842C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002111G>C | CA492204310 | VPS33B | c.1344C>G (p.Pro448=) c.1263C>G (p.Pro421=) c.*1039C>G (n.*1039C>G) c.1071C>G (p.Pro357=) c.1266C>G (p.Pro422=) c.1020C>G (p.Pro340=) c.999C>G (p.Pro333=) n.1842C>G | gnomAD v4 |
| 15 | g.91002111G= | CA2195398986 | VPS33B | c.1344C= (p.Pro448=) c.1263C= (p.Pro421=) c.*1039C= (n.*1039C=) c.1071C= (p.Pro357=) c.1266C= (p.Pro422=) c.1020C= (p.Pro340=) c.999C= (p.Pro333=) n.1842C= | |
| 15 | g.91002111G>T | CA492204312 | VPS33B | c.1344C>A (p.Pro448=) c.1263C>A (p.Pro421=) c.*1039C>A (n.*1039C>A) c.1071C>A (p.Pro357=) c.1266C>A (p.Pro422=) c.1020C>A (p.Pro340=) c.999C>A (p.Pro333=) n.1842C>A | gnomAD v4 |
| 15 | g.91002111_91002115del | CA2565784623 | VPS33B | c.1340_1344del (p.Ala447GlyfsTer10) c.1259_1263del (p.Ala420GlyfsTer10) c.*1035_*1039del (n.*1035_*1039del) c.1067_1071del (p.Ala356GlyfsTer10) c.1262_1266del (p.Ala421GlyfsTer10) c.1016_1020del (p.Ala339GlyfsTer10) c.995_999del (p.Ala332GlyfsTer10) n.1838_1842del | |
| 15 | g.91002115dup | CA2195398987 | VPS33B | c.1344dup (p.Gly449ArgfsTer10) c.1263dup (p.Gly422ArgfsTer10) c.*1039dup (n.*1039dup) c.1071dup (p.Gly358ArgfsTer10) c.1266dup (p.Gly423ArgfsTer10) c.1020dup (p.Gly341ArgfsTer10) c.999dup (p.Gly334ArgfsTer10) n.1842dup | dbSNP |
| 15 | g.91002112G>A | CA393886536 | VPS33B | c.1343C>T (p.Pro448Leu) c.1262C>T (p.Pro421Leu) c.*1038C>T (n.*1038C>T) c.1070C>T (p.Pro357Leu) c.1265C>T (p.Pro422Leu) c.1019C>T (p.Pro340Leu) c.998C>T (p.Pro333Leu) n.1841C>T | |
| 15 | g.91002112G>C | CA393886535 | VPS33B | c.1343C>G (p.Pro448Arg) c.1262C>G (p.Pro421Arg) c.*1038C>G (n.*1038C>G) c.1070C>G (p.Pro357Arg) c.1265C>G (p.Pro422Arg) c.1019C>G (p.Pro340Arg) c.998C>G (p.Pro333Arg) n.1841C>G | |
| 15 | g.91002112G>T | CA393886534 | VPS33B | c.1343C>A (p.Pro448His) c.1262C>A (p.Pro421His) c.*1038C>A (n.*1038C>A) c.1070C>A (p.Pro357His) c.1265C>A (p.Pro422His) c.1019C>A (p.Pro340His) c.998C>A (p.Pro333His) n.1841C>A | |
| 15 | g.91002113G>A | CA393886537 | VPS33B | c.1342C>T (p.Pro448Ser) c.1261C>T (p.Pro421Ser) c.*1037C>T (n.*1037C>T) c.1069C>T (p.Pro357Ser) c.1264C>T (p.Pro422Ser) c.1018C>T (p.Pro340Ser) c.997C>T (p.Pro333Ser) n.1840C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.91002113G>C | CA393886539 | VPS33B | c.1342C>G (p.Pro448Ala) c.1261C>G (p.Pro421Ala) c.*1037C>G (n.*1037C>G) c.1069C>G (p.Pro357Ala) c.1264C>G (p.Pro422Ala) c.1018C>G (p.Pro340Ala) c.997C>G (p.Pro333Ala) n.1840C>G | gnomAD v4 |
| 15 | g.91002113G= | CA2195398988 | VPS33B | c.1342C= (p.Pro448=) c.1261C= (p.Pro421=) c.*1037C= (n.*1037C=) c.1069C= (p.Pro357=) c.1264C= (p.Pro422=) c.1018C= (p.Pro340=) c.997C= (p.Pro333=) n.1840C= | |
| 15 | g.91002113G>T | CA393886538 | VPS33B | c.1342C>A (p.Pro448Thr) c.1261C>A (p.Pro421Thr) c.*1037C>A (n.*1037C>A) c.1069C>A (p.Pro357Thr) c.1264C>A (p.Pro422Thr) c.1018C>A (p.Pro340Thr) c.997C>A (p.Pro333Thr) n.1840C>A | |
| 15 | g.91002114G>A | CA7744679 | VPS33B | c.1341C>T (p.Ala447=) c.1260C>T (p.Ala420=) c.*1036C>T (n.*1036C>T) c.1068C>T (p.Ala356=) c.1263C>T (p.Ala421=) c.1017C>T (p.Ala339=) c.996C>T (p.Ala332=) n.1839C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.91002114G>C | CA492204320 | VPS33B | c.1341C>G (p.Ala447=) c.1260C>G (p.Ala420=) c.*1036C>G (n.*1036C>G) c.1068C>G (p.Ala356=) c.1263C>G (p.Ala421=) c.1017C>G (p.Ala339=) c.996C>G (p.Ala332=) n.1839C>G | |
| 15 | g.91002114G= | CA2195398989 | VPS33B | c.1341C= (p.Ala447=) c.1260C= (p.Ala420=) c.*1036C= (n.*1036C=) c.1068C= (p.Ala356=) c.1263C= (p.Ala421=) c.1017C= (p.Ala339=) c.996C= (p.Ala332=) n.1839C= | |
| 15 | g.91002114G>T | CA492204322 | VPS33B | c.1341C>A (p.Ala447=) c.1260C>A (p.Ala420=) c.*1036C>A (n.*1036C>A) c.1068C>A (p.Ala356=) c.1263C>A (p.Ala421=) c.1017C>A (p.Ala339=) c.996C>A (p.Ala332=) n.1839C>A | |
| 15 | g.91002115G>A | CA393886542 | VPS33B | c.1340C>T (p.Ala447Val) c.1259C>T (p.Ala420Val) c.*1035C>T (n.*1035C>T) c.1067C>T (p.Ala356Val) c.1262C>T (p.Ala421Val) c.1016C>T (p.Ala339Val) c.995C>T (p.Ala332Val) n.1838C>T | dbSNP gnomAD v4 |
| 15 | g.91002115G>C | CA393886540 | VPS33B | c.1340C>G (p.Ala447Gly) c.1259C>G (p.Ala420Gly) c.*1035C>G (n.*1035C>G) c.1067C>G (p.Ala356Gly) c.1262C>G (p.Ala421Gly) c.1016C>G (p.Ala339Gly) c.995C>G (p.Ala332Gly) n.1838C>G | gnomAD v4 |
| 15 | g.91002115G= | CA2195398990 | VPS33B | c.1340C= (p.Ala447=) c.1259C= (p.Ala420=) c.*1035C= (n.*1035C=) c.1067C= (p.Ala356=) c.1262C= (p.Ala421=) c.1016C= (p.Ala339=) c.995C= (p.Ala332=) n.1838C= | |
| 15 | g.91002115G>T | CA393886541 | VPS33B | c.1340C>A (p.Ala447Asp) c.1259C>A (p.Ala420Asp) c.*1035C>A (n.*1035C>A) c.1067C>A (p.Ala356Asp) c.1262C>A (p.Ala421Asp) c.1016C>A (p.Ala339Asp) c.995C>A (p.Ala332Asp) n.1838C>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.91002116C>A | CA393886543 | VPS33B | c.1339G>T (p.Ala447Ser) c.1258G>T (p.Ala420Ser) c.*1034G>T (n.*1034G>T) c.1066G>T (p.Ala356Ser) c.1261G>T (p.Ala421Ser) c.1015G>T (p.Ala339Ser) c.994G>T (p.Ala332Ser) n.1837G>T | |
| 15 | g.91002116C>G | CA393886544 | VPS33B | c.1339G>C (p.Ala447Pro) c.1258G>C (p.Ala420Pro) c.*1034G>C (n.*1034G>C) c.1066G>C (p.Ala356Pro) c.1261G>C (p.Ala421Pro) c.1015G>C (p.Ala339Pro) c.994G>C (p.Ala332Pro) n.1837G>C | |
| 15 | g.91002116C>T | CA393886545 | VPS33B | c.1339G>A (p.Ala447Thr) c.1258G>A (p.Ala420Thr) c.*1034G>A (n.*1034G>A) c.1066G>A (p.Ala356Thr) c.1261G>A (p.Ala421Thr) c.1015G>A (p.Ala339Thr) c.994G>A (p.Ala332Thr) n.1837G>A | |
| 15 | g.91002116_91002117insTCAC | CA2539669432 | VPS33B | c.1339_1340insTGAG (p.Ala447ValfsTer13) c.1258_1259insTGAG (p.Ala420ValfsTer13) c.*1034_*1035insTGAG (n.*1034_*1035insTGAG) c.1066_1067insTGAG (p.Ala356ValfsTer13) c.1261_1262insTGAG (p.Ala421ValfsTer13) c.1015_1016insTGAG (p.Ala339ValfsTer13) c.994_995insTGAG (p.Ala332ValfsTer13) n.1837_1838insTGAG | |
| 15 | g.91002117C>A | CA393886546 | VPS33B | c.1338G>T (p.Gln446His) c.1257G>T (p.Gln419His) c.*1033G>T (n.*1033G>T) c.1065G>T (p.Gln355His) c.1260G>T (p.Gln420His) c.1014G>T (p.Gln338His) c.993G>T (p.Gln331His) n.1836G>T | |
| 15 | g.91002117C>G | CA393886547 | VPS33B | c.1338G>C (p.Gln446His) c.1257G>C (p.Gln419His) c.*1033G>C (n.*1033G>C) c.1065G>C (p.Gln355His) c.1260G>C (p.Gln420His) c.1014G>C (p.Gln338His) c.993G>C (p.Gln331His) n.1836G>C | |
| 15 | g.91002117C>T | CA492204331 | VPS33B | c.1338G>A (p.Gln446=) c.1257G>A (p.Gln419=) c.*1033G>A (n.*1033G>A) c.1065G>A (p.Gln355=) c.1260G>A (p.Gln420=) c.1014G>A (p.Gln338=) c.993G>A (p.Gln331=) n.1836G>A | COSMIC |
| 15 | g.91002118T>A | CA393886548 | VPS33B | c.1337A>T (p.Gln446Leu) c.1256A>T (p.Gln419Leu) c.*1032A>T (n.*1032A>T) c.1064A>T (p.Gln355Leu) c.1259A>T (p.Gln420Leu) c.1013A>T (p.Gln338Leu) c.992A>T (p.Gln331Leu) n.1835A>T | |
| 15 | g.91002118T>C | CA393886549 | VPS33B | c.1337A>G (p.Gln446Arg) c.1256A>G (p.Gln419Arg) c.*1032A>G (n.*1032A>G) c.1064A>G (p.Gln355Arg) c.1259A>G (p.Gln420Arg) c.1013A>G (p.Gln338Arg) c.992A>G (p.Gln331Arg) n.1835A>G | |
| 15 | g.91002118T>G | CA393886550 | VPS33B | c.1337A>C (p.Gln446Pro) c.1256A>C (p.Gln419Pro) c.*1032A>C (n.*1032A>C) c.1064A>C (p.Gln355Pro) c.1259A>C (p.Gln420Pro) c.1013A>C (p.Gln338Pro) c.992A>C (p.Gln331Pro) n.1835A>C | |
| 15 | g.91002119G>A | CA393886551 | VPS33B | c.1336C>T (p.Gln446Ter) c.1255C>T (p.Gln419Ter) c.*1031C>T (n.*1031C>T) c.1063C>T (p.Gln355Ter) c.1258C>T (p.Gln420Ter) c.1012C>T (p.Gln338Ter) c.991C>T (p.Gln331Ter) n.1834C>T | gnomAD v4 |
| 15 | g.91002119G>C | CA393886552 | VPS33B | c.1336C>G (p.Gln446Glu) c.1255C>G (p.Gln419Glu) c.*1031C>G (n.*1031C>G) c.1063C>G (p.Gln355Glu) c.1258C>G (p.Gln420Glu) c.1012C>G (p.Gln338Glu) c.991C>G (p.Gln331Glu) n.1834C>G | |
| 15 | g.91002119G>T | CA393886553 | VPS33B | c.1336C>A (p.Gln446Lys) c.1255C>A (p.Gln419Lys) c.*1031C>A (n.*1031C>A) c.1063C>A (p.Gln355Lys) c.1258C>A (p.Gln420Lys) c.1012C>A (p.Gln338Lys) c.991C>A (p.Gln331Lys) n.1834C>A | gnomAD v4 |
| 15 | g.91002120C>A | CA393886554 | VPS33B | c.1335G>T (p.Glu445Asp) c.1254G>T (p.Glu418Asp) c.*1030G>T (n.*1030G>T) c.1062G>T (p.Glu354Asp) c.1257G>T (p.Glu419Asp) c.1011G>T (p.Glu337Asp) c.990G>T (p.Glu330Asp) n.1833G>T | |
| 15 | g.91002120C= | CA2195398991 | VPS33B | c.1335G= (p.Glu445=) c.1254G= (p.Glu418=) c.*1030G= (n.*1030G=) c.1062G= (p.Glu354=) c.1257G= (p.Glu419=) c.1011G= (p.Glu337=) c.990G= (p.Glu330=) n.1833G= | |
| 15 | g.91002120C>G | CA393886555 | VPS33B | c.1335G>C (p.Glu445Asp) c.1254G>C (p.Glu418Asp) c.*1030G>C (n.*1030G>C) c.1062G>C (p.Glu354Asp) c.1257G>C (p.Glu419Asp) c.1011G>C (p.Glu337Asp) c.990G>C (p.Glu330Asp) n.1833G>C | |
| 15 | g.91002120C>T | CA7744680 | VPS33B | c.1335G>A (p.Glu445=) c.1254G>A (p.Glu418=) c.*1030G>A (n.*1030G>A) c.1062G>A (p.Glu354=) c.1257G>A (p.Glu419=) c.1011G>A (p.Glu337=) c.990G>A (p.Glu330=) n.1833G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002121T>A | CA7744681 | VPS33B | c.1334A>T (p.Glu445Val) c.1253A>T (p.Glu418Val) c.*1029A>T (n.*1029A>T) c.1061A>T (p.Glu354Val) c.1256A>T (p.Glu419Val) c.1010A>T (p.Glu337Val) c.989A>T (p.Glu330Val) n.1832A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.91002121T>C | CA393886556 | VPS33B | c.1334A>G (p.Glu445Gly) c.1253A>G (p.Glu418Gly) c.*1029A>G (n.*1029A>G) c.1061A>G (p.Glu354Gly) c.1256A>G (p.Glu419Gly) c.1010A>G (p.Glu337Gly) c.989A>G (p.Glu330Gly) n.1832A>G | |
| 15 | g.91002121T>G | CA393886557 | VPS33B | c.1334A>C (p.Glu445Ala) c.1253A>C (p.Glu418Ala) c.*1029A>C (n.*1029A>C) c.1061A>C (p.Glu354Ala) c.1256A>C (p.Glu419Ala) c.1010A>C (p.Glu337Ala) c.989A>C (p.Glu330Ala) n.1832A>C | |
| 15 | g.91002121T= | CA2195398992 | VPS33B | c.1334A= (p.Glu445=) c.1253A= (p.Glu418=) c.*1029A= (n.*1029A=) c.1061A= (p.Glu354=) c.1256A= (p.Glu419=) c.1010A= (p.Glu337=) c.989A= (p.Glu330=) n.1832A= | |
| 15 | g.91002122C>A | CA393886558 | VPS33B | c.1333G>T (p.Glu445Ter) c.1252G>T (p.Glu418Ter) c.*1028G>T (n.*1028G>T) c.1060G>T (p.Glu354Ter) c.1255G>T (p.Glu419Ter) c.1009G>T (p.Glu337Ter) c.988G>T (p.Glu330Ter) n.1831G>T | |
| 15 | g.91002122C>G | CA393886559 | VPS33B | c.1333G>C (p.Glu445Gln) c.1252G>C (p.Glu418Gln) c.*1028G>C (n.*1028G>C) c.1060G>C (p.Glu354Gln) c.1255G>C (p.Glu419Gln) c.1009G>C (p.Glu337Gln) c.988G>C (p.Glu330Gln) n.1831G>C | |
| 15 | g.91002122C>T | CA393886560 | VPS33B | c.1333G>A (p.Glu445Lys) c.1252G>A (p.Glu418Lys) c.*1028G>A (n.*1028G>A) c.1060G>A (p.Glu354Lys) c.1255G>A (p.Glu419Lys) c.1009G>A (p.Glu337Lys) c.988G>A (p.Glu330Lys) n.1831G>A | |
| 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 | ClinVar 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 | |
| 15 | g.91002137C>A | CA393886616 | VPS33B | c.1318G>T (p.Ala440Ser) c.1237G>T (p.Ala413Ser) c.*1013G>T (n.*1013G>T) c.1045G>T (p.Ala349Ser) c.1240G>T (p.Ala414Ser) c.994G>T (p.Ala332Ser) c.973G>T (p.Ala325Ser) n.1816G>T | |
| 15 | g.91002137C= | CA2195399000 | VPS33B | c.1318G= (p.Ala440=) c.1237G= (p.Ala413=) c.*1013G= (n.*1013G=) c.1045G= (p.Ala349=) c.1240G= (p.Ala414=) c.994G= (p.Ala332=) c.973G= (p.Ala325=) n.1816G= | |
| 15 | g.91002137C>G | CA393886627 | VPS33B | c.1318G>C (p.Ala440Pro) c.1237G>C (p.Ala413Pro) c.*1013G>C (n.*1013G>C) c.1045G>C (p.Ala349Pro) c.1240G>C (p.Ala414Pro) c.994G>C (p.Ala332Pro) c.973G>C (p.Ala325Pro) n.1816G>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.91002137C>T | CA393886618 | VPS33B | c.1318G>A (p.Ala440Thr) c.1237G>A (p.Ala413Thr) c.*1013G>A (n.*1013G>A) c.1045G>A (p.Ala349Thr) c.1240G>A (p.Ala414Thr) c.994G>A (p.Ala332Thr) c.973G>A (p.Ala325Thr) n.1816G>A | |
| 15 | g.91002138T>A | CA393886629 | VPS33B | c.1317A>T (p.Arg439Ser) c.1236A>T (p.Arg412Ser) c.*1012A>T (n.*1012A>T) c.1044A>T (p.Arg348Ser) c.1239A>T (p.Arg413Ser) c.993A>T (p.Arg331Ser) c.972A>T (p.Arg324Ser) n.1815A>T | |
| 15 | g.91002138T>C | CA492204403 | VPS33B | c.1317A>G (p.Arg439=) c.1236A>G (p.Arg412=) c.*1012A>G (n.*1012A>G) c.1044A>G (p.Arg348=) c.1239A>G (p.Arg413=) c.993A>G (p.Arg331=) c.972A>G (p.Arg324=) n.1815A>G | gnomAD v4 |
| 15 | g.91002138T>G | CA393886631 | VPS33B | c.1317A>C (p.Arg439Ser) c.1236A>C (p.Arg412Ser) c.*1012A>C (n.*1012A>C) c.1044A>C (p.Arg348Ser) c.1239A>C (p.Arg413Ser) c.993A>C (p.Arg331Ser) c.972A>C (p.Arg324Ser) n.1815A>C | |
| 15 | g.91002139C>A | CA393886633 | VPS33B | c.1316G>T (p.Arg439Ile) c.1235G>T (p.Arg412Ile) c.*1011G>T (n.*1011G>T) c.1043G>T (p.Arg348Ile) c.1238G>T (p.Arg413Ile) c.992G>T (p.Arg331Ile) c.971G>T (p.Arg324Ile) n.1814G>T | |
| 15 | g.91002139C>G | CA393886635 | VPS33B | c.1316G>C (p.Arg439Thr) c.1235G>C (p.Arg412Thr) c.*1011G>C (n.*1011G>C) c.1043G>C (p.Arg348Thr) c.1238G>C (p.Arg413Thr) c.992G>C (p.Arg331Thr) c.971G>C (p.Arg324Thr) n.1814G>C | |
| 15 | g.91002139C>T | CA393886637 | VPS33B | c.1316G>A (p.Arg439Lys) c.1235G>A (p.Arg412Lys) c.*1011G>A (n.*1011G>A) c.1043G>A (p.Arg348Lys) c.1238G>A (p.Arg413Lys) c.992G>A (p.Arg331Lys) c.971G>A (p.Arg324Lys) n.1814G>A | |
| 15 | g.91002140T>A | CA393886638 | VPS33B | c.1315A>T (p.Arg439Ter) c.1234A>T (p.Arg412Ter) c.*1010A>T (n.*1010A>T) c.1042A>T (p.Arg348Ter) c.1237A>T (p.Arg413Ter) c.991A>T (p.Arg331Ter) c.970A>T (p.Arg324Ter) n.1813A>T | |
| 15 | g.91002140T>C | CA393886640 | VPS33B | c.1315A>G (p.Arg439Gly) c.1234A>G (p.Arg412Gly) c.*1010A>G (n.*1010A>G) c.1042A>G (p.Arg348Gly) c.1237A>G (p.Arg413Gly) c.991A>G (p.Arg331Gly) c.970A>G (p.Arg324Gly) n.1813A>G | |
| 15 | g.91002140T>G | CA492204409 | VPS33B | c.1315A>C (p.Arg439=) c.1234A>C (p.Arg412=) c.*1010A>C (n.*1010A>C) c.1042A>C (p.Arg348=) c.1237A>C (p.Arg413=) c.991A>C (p.Arg331=) c.970A>C (p.Arg324=) n.1813A>C | |
| 15 | g.91002141T>A | CA492204413 | VPS33B | c.1314A>T (p.Arg438=) c.1233A>T (p.Arg411=) c.*1009A>T (n.*1009A>T) c.1041A>T (p.Arg347=) c.1236A>T (p.Arg412=) c.990A>T (p.Arg330=) c.969A>T (p.Arg323=) n.1812A>T | |
| 15 | g.91002141T>C | CA492204414 | VPS33B | c.1314A>G (p.Arg438=) c.1233A>G (p.Arg411=) c.*1009A>G (n.*1009A>G) c.1041A>G (p.Arg347=) c.1236A>G (p.Arg412=) c.990A>G (p.Arg330=) c.969A>G (p.Arg323=) n.1812A>G | |
| 15 | g.91002141T>G | CA492204415 | VPS33B | c.1314A>C (p.Arg438=) c.1233A>C (p.Arg411=) c.*1009A>C (n.*1009A>C) c.1041A>C (p.Arg347=) c.1236A>C (p.Arg412=) c.990A>C (p.Arg330=) c.969A>C (p.Arg323=) n.1812A>C | |
| 15 | g.91002142C>A | CA393886642 | VPS33B | c.1313G>T (p.Arg438Leu) c.1232G>T (p.Arg411Leu) c.*1008G>T (n.*1008G>T) c.1040G>T (p.Arg347Leu) c.1235G>T (p.Arg412Leu) c.989G>T (p.Arg330Leu) c.968G>T (p.Arg323Leu) n.1811G>T | gnomAD v4 |
| 15 | g.91002142C= | CA2195399001 | VPS33B | c.1313G= (p.Arg438=) c.1232G= (p.Arg411=) c.*1008G= (n.*1008G=) c.1040G= (p.Arg347=) c.1235G= (p.Arg412=) c.989G= (p.Arg330=) c.968G= (p.Arg323=) n.1811G= | |
| 15 | g.91002142C>G | CA393886644 | VPS33B | c.1313G>C (p.Arg438Pro) c.1232G>C (p.Arg411Pro) c.*1008G>C (n.*1008G>C) c.1040G>C (p.Arg347Pro) c.1235G>C (p.Arg412Pro) c.989G>C (p.Arg330Pro) c.968G>C (p.Arg323Pro) n.1811G>C | gnomAD v4 |
| 15 | g.91002142C>T | CA7744685 | VPS33B | c.1313G>A (p.Arg438Gln) c.1232G>A (p.Arg411Gln) c.*1008G>A (n.*1008G>A) c.1040G>A (p.Arg347Gln) c.1235G>A (p.Arg412Gln) c.989G>A (p.Arg330Gln) c.968G>A (p.Arg323Gln) n.1811G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002143G>A | CA115404 | VPS33B | c.1312C>T (p.Arg438Ter) c.1231C>T (p.Arg411Ter) c.*1007C>T (n.*1007C>T) c.1039C>T (p.Arg347Ter) c.1234C>T (p.Arg412Ter) c.988C>T (p.Arg330Ter) c.967C>T (p.Arg323Ter) n.1810C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.91002143G>C | CA393886649 | VPS33B | c.1312C>G (p.Arg438Gly) c.1231C>G (p.Arg411Gly) c.*1007C>G (n.*1007C>G) c.1039C>G (p.Arg347Gly) c.1234C>G (p.Arg412Gly) c.988C>G (p.Arg330Gly) c.967C>G (p.Arg323Gly) n.1810C>G | |
| 15 | g.91002143G= | CA2195399002 | VPS33B | c.1312C= (p.Arg438=) c.1231C= (p.Arg411=) c.*1007C= (n.*1007C=) c.1039C= (p.Arg347=) c.1234C= (p.Arg412=) c.988C= (p.Arg330=) c.967C= (p.Arg323=) n.1810C= | |
| 15 | g.91002143G>T | CA7744686 | VPS33B | c.1312C>A (p.Arg438=) c.1231C>A (p.Arg411=) c.*1007C>A (n.*1007C>A) c.1039C>A (p.Arg347=) c.1234C>A (p.Arg412=) c.988C>A (p.Arg330=) c.967C>A (p.Arg323=) n.1810C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002144C>A | CA492204423 | VPS33B | c.1311G>T (p.Leu437=) c.1230G>T (p.Leu410=) c.*1006G>T (n.*1006G>T) c.1038G>T (p.Leu346=) c.1233G>T (p.Leu411=) c.987G>T (p.Leu329=) c.966G>T (p.Leu322=) n.1809G>T | |
| 15 | g.91002144C= | CA2195399003 | VPS33B | c.1311G= (p.Leu437=) c.1230G= (p.Leu410=) c.*1006G= (n.*1006G=) c.1038G= (p.Leu346=) c.1233G= (p.Leu411=) c.987G= (p.Leu329=) c.966G= (p.Leu322=) n.1809G= | |
| 15 | g.91002144C>G | CA492204425 | VPS33B | c.1311G>C (p.Leu437=) c.1230G>C (p.Leu410=) c.*1006G>C (n.*1006G>C) c.1038G>C (p.Leu346=) c.1233G>C (p.Leu411=) c.987G>C (p.Leu329=) c.966G>C (p.Leu322=) n.1809G>C | gnomAD v4 |
| 15 | g.91002144C>T | CA274811386 | VPS33B | c.1311G>A (p.Leu437=) c.1230G>A (p.Leu410=) c.*1006G>A (n.*1006G>A) c.1038G>A (p.Leu346=) c.1233G>A (p.Leu411=) c.987G>A (p.Leu329=) c.966G>A (p.Leu322=) n.1809G>A | ClinVar dbSNP |
| 15 | g.91002145A>C | CA393886652 | VPS33B | c.1310T>G (p.Leu437Arg) c.1229T>G (p.Leu410Arg) c.*1005T>G (n.*1005T>G) c.1037T>G (p.Leu346Arg) c.1232T>G (p.Leu411Arg) c.986T>G (p.Leu329Arg) c.965T>G (p.Leu322Arg) n.1808T>G | |
| 15 | g.91002145A>G | CA393886654 | VPS33B | c.1310T>C (p.Leu437Pro) c.1229T>C (p.Leu410Pro) c.*1005T>C (n.*1005T>C) c.1037T>C (p.Leu346Pro) c.1232T>C (p.Leu411Pro) c.986T>C (p.Leu329Pro) c.965T>C (p.Leu322Pro) n.1808T>C | |
| 15 | g.91002145A>T | CA393886656 | VPS33B | c.1310T>A (p.Leu437Gln) c.1229T>A (p.Leu410Gln) c.*1005T>A (n.*1005T>A) c.1037T>A (p.Leu346Gln) c.1232T>A (p.Leu411Gln) c.986T>A (p.Leu329Gln) c.965T>A (p.Leu322Gln) n.1808T>A | |
| 15 | g.91002146G>A | CA492204431 | VPS33B | c.1309C>T (p.Leu437=) c.1228C>T (p.Leu410=) c.*1004C>T (n.*1004C>T) c.1036C>T (p.Leu346=) c.1231C>T (p.Leu411=) c.985C>T (p.Leu329=) c.964C>T (p.Leu322=) n.1807C>T | |
| 15 | g.91002146G>C | CA393886658 | VPS33B | c.1309C>G (p.Leu437Val) c.1228C>G (p.Leu410Val) c.*1004C>G (n.*1004C>G) c.1036C>G (p.Leu346Val) c.1231C>G (p.Leu411Val) c.985C>G (p.Leu329Val) c.964C>G (p.Leu322Val) n.1807C>G | |
| 15 | g.91002146G>T | CA393886660 | VPS33B | c.1309C>A (p.Leu437Met) c.1228C>A (p.Leu410Met) c.*1004C>A (n.*1004C>A) c.1036C>A (p.Leu346Met) c.1231C>A (p.Leu411Met) c.985C>A (p.Leu329Met) c.964C>A (p.Leu322Met) n.1807C>A | |
| 15 | g.91002147A>C | CA393886662 | VPS33B | c.1308T>G (p.Asn436Lys) c.1227T>G (p.Asn409Lys) c.*1003T>G (n.*1003T>G) c.1035T>G (p.Asn345Lys) c.1230T>G (p.Asn410Lys) c.984T>G (p.Asn328Lys) c.963T>G (p.Asn321Lys) n.1806T>G | |
| 15 | g.91002147A>G | CA492204434 | VPS33B | c.1308T>C (p.Asn436=) c.1227T>C (p.Asn409=) c.*1003T>C (n.*1003T>C) c.1035T>C (p.Asn345=) c.1230T>C (p.Asn410=) c.984T>C (p.Asn328=) c.963T>C (p.Asn321=) n.1806T>C | |
| 15 | g.91002147A>T | CA393886663 | VPS33B | c.1308T>A (p.Asn436Lys) c.1227T>A (p.Asn409Lys) c.*1003T>A (n.*1003T>A) c.1035T>A (p.Asn345Lys) c.1230T>A (p.Asn410Lys) c.984T>A (p.Asn328Lys) c.963T>A (p.Asn321Lys) n.1806T>A | |
| 15 | g.91002148T>A | CA393886669 | VPS33B | c.1307A>T (p.Asn436Ile) c.1226A>T (p.Asn409Ile) c.*1002A>T (n.*1002A>T) c.1034A>T (p.Asn345Ile) c.1229A>T (p.Asn410Ile) c.983A>T (p.Asn328Ile) c.962A>T (p.Asn321Ile) n.1805A>T | |
| 15 | g.91002148T>C | CA7744687 | VPS33B | c.1307A>G (p.Asn436Ser) c.1226A>G (p.Asn409Ser) c.*1002A>G (n.*1002A>G) c.1034A>G (p.Asn345Ser) c.1229A>G (p.Asn410Ser) c.983A>G (p.Asn328Ser) c.962A>G (p.Asn321Ser) n.1805A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002148T>G | CA393886665 | VPS33B | c.1307A>C (p.Asn436Thr) c.1226A>C (p.Asn409Thr) c.*1002A>C (n.*1002A>C) c.1034A>C (p.Asn345Thr) c.1229A>C (p.Asn410Thr) c.983A>C (p.Asn328Thr) c.962A>C (p.Asn321Thr) n.1805A>C | |
| 15 | g.91002148T= | CA2195399004 | VPS33B | c.1307A= (p.Asn436=) c.1226A= (p.Asn409=) c.*1002A= (n.*1002A=) c.1034A= (p.Asn345=) c.1229A= (p.Asn410=) c.983A= (p.Asn328=) c.962A= (p.Asn321=) n.1805A= | |
| 15 | g.91002149T>A | CA393886670 | VPS33B | c.1306A>T (p.Asn436Tyr) c.1225A>T (p.Asn409Tyr) c.*1001A>T (n.*1001A>T) c.1033A>T (p.Asn345Tyr) c.1228A>T (p.Asn410Tyr) c.982A>T (p.Asn328Tyr) c.961A>T (p.Asn321Tyr) n.1804A>T | |
| 15 | g.91002149T>C | CA393886672 | VPS33B | c.1306A>G (p.Asn436Asp) c.1225A>G (p.Asn409Asp) c.*1001A>G (n.*1001A>G) c.1033A>G (p.Asn345Asp) c.1228A>G (p.Asn410Asp) c.982A>G (p.Asn328Asp) c.961A>G (p.Asn321Asp) n.1804A>G | gnomAD v4 |
| 15 | g.91002149T>G | CA393886676 | VPS33B | c.1306A>C (p.Asn436His) c.1225A>C (p.Asn409His) c.*1001A>C (n.*1001A>C) c.1033A>C (p.Asn345His) c.1228A>C (p.Asn410His) c.982A>C (p.Asn328His) c.961A>C (p.Asn321His) n.1804A>C | |
| 15 | g.91002149_91002150delinsTG | CA2195399005 | VPS33B | c.1305_1306delinsCA (p.Ser435=) c.1224_1225delinsCA (p.Ser408=) c.*1000_*1001delinsCA (n.*1000_*1001delinsCA) c.1032_1033delinsCA (p.Ser344=) c.1227_1228delinsCA (p.Ser409=) c.981_982delinsCA (p.Ser327=) c.960_961delinsCA (p.Ser320=) n.1803_1804delinsCA | |
| 15 | g.91002150G>A | CA492204445 | VPS33B | c.1305C>T (p.Ser435=) c.1224C>T (p.Ser408=) c.*1000C>T (n.*1000C>T) c.1032C>T (p.Ser344=) c.1227C>T (p.Ser409=) c.981C>T (p.Ser327=) c.960C>T (p.Ser320=) n.1803C>T | gnomAD v4 |
| 15 | g.91002150G>C | CA492204443 | VPS33B | c.1305C>G (p.Ser435=) c.1224C>G (p.Ser408=) c.*1000C>G (n.*1000C>G) c.1032C>G (p.Ser344=) c.1227C>G (p.Ser409=) c.981C>G (p.Ser327=) c.960C>G (p.Ser320=) n.1803C>G | |
| 15 | g.91002150G= | CA2195399006 | VPS33B | c.1305C= (p.Ser435=) c.1224C= (p.Ser408=) c.*1000C= (n.*1000C=) c.1032C= (p.Ser344=) c.1227C= (p.Ser409=) c.981C= (p.Ser327=) c.960C= (p.Ser320=) n.1803C= | |
| 15 | g.91002150G>T | CA492204441 | VPS33B | c.1305C>A (p.Ser435=) c.1224C>A (p.Ser408=) c.*1000C>A (n.*1000C>A) c.1032C>A (p.Ser344=) c.1227C>A (p.Ser409=) c.981C>A (p.Ser327=) c.960C>A (p.Ser320=) n.1803C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002151del | CA717052746 | VPS33B | c.1305del (p.Asn436IlefsTer8) c.1224del (p.Asn409IlefsTer8) c.*1000del (n.*1000del) c.1032del (p.Asn345IlefsTer8) c.1227del (p.Asn410IlefsTer8) c.981del (p.Asn328IlefsTer8) c.960del (p.Asn321IlefsTer8) n.1803del | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.91002151G>A | CA393886680 | VPS33B | c.1304C>T (p.Ser435Phe) c.1223C>T (p.Ser408Phe) c.*999C>T (n.*999C>T) c.1031C>T (p.Ser344Phe) c.1226C>T (p.Ser409Phe) c.980C>T (p.Ser327Phe) c.959C>T (p.Ser320Phe) n.1802C>T | |
| 15 | g.91002151G>C | CA393886681 | VPS33B | c.1304C>G (p.Ser435Cys) c.1223C>G (p.Ser408Cys) c.*999C>G (n.*999C>G) c.1031C>G (p.Ser344Cys) c.1226C>G (p.Ser409Cys) c.980C>G (p.Ser327Cys) c.959C>G (p.Ser320Cys) n.1802C>G | gnomAD v4 |
| 15 | g.91002151G>T | CA393886683 | VPS33B | c.1304C>A (p.Ser435Tyr) c.1223C>A (p.Ser408Tyr) c.*999C>A (n.*999C>A) c.1031C>A (p.Ser344Tyr) c.1226C>A (p.Ser409Tyr) c.980C>A (p.Ser327Tyr) c.959C>A (p.Ser320Tyr) n.1802C>A | |
| 15 | g.91002152A>C | CA393886686 | VPS33B | c.1303T>G (p.Ser435Ala) c.1222T>G (p.Ser408Ala) c.*998T>G (n.*998T>G) c.1030T>G (p.Ser344Ala) c.1225T>G (p.Ser409Ala) c.979T>G (p.Ser327Ala) c.958T>G (p.Ser320Ala) n.1801T>G | |
| 15 | g.91002152A>G | CA393886687 | VPS33B | c.1303T>C (p.Ser435Pro) c.1222T>C (p.Ser408Pro) c.*998T>C (n.*998T>C) c.1030T>C (p.Ser344Pro) c.1225T>C (p.Ser409Pro) c.979T>C (p.Ser327Pro) c.958T>C (p.Ser320Pro) n.1801T>C | |
| 15 | g.91002152A>T | CA393886689 | VPS33B | c.1303T>A (p.Ser435Thr) c.1222T>A (p.Ser408Thr) c.*998T>A (n.*998T>A) c.1030T>A (p.Ser344Thr) c.1225T>A (p.Ser409Thr) c.979T>A (p.Ser327Thr) c.958T>A (p.Ser320Thr) n.1801T>A | |
| 15 | g.91002153G>A | CA492204452 | VPS33B | c.1302C>T (p.Phe434=) c.1221C>T (p.Phe407=) c.*997C>T (n.*997C>T) c.1029C>T (p.Phe343=) c.1224C>T (p.Phe408=) c.978C>T (p.Phe326=) c.957C>T (p.Phe319=) n.1800C>T | |
| 15 | g.91002153G>C | CA393886690 | VPS33B | c.1302C>G (p.Phe434Leu) c.1221C>G (p.Phe407Leu) c.*997C>G (n.*997C>G) c.1029C>G (p.Phe343Leu) c.1224C>G (p.Phe408Leu) c.978C>G (p.Phe326Leu) c.957C>G (p.Phe319Leu) n.1800C>G | |
| 15 | g.91002153G>T | CA393886691 | VPS33B | c.1302C>A (p.Phe434Leu) c.1221C>A (p.Phe407Leu) c.*997C>A (n.*997C>A) c.1029C>A (p.Phe343Leu) c.1224C>A (p.Phe408Leu) c.978C>A (p.Phe326Leu) c.957C>A (p.Phe319Leu) n.1800C>A | |
| 15 | g.91002154A>C | CA393886692 | VPS33B | c.1301T>G (p.Phe434Cys) c.1220T>G (p.Phe407Cys) c.*996T>G (n.*996T>G) c.1028T>G (p.Phe343Cys) c.1223T>G (p.Phe408Cys) c.977T>G (p.Phe326Cys) c.956T>G (p.Phe319Cys) n.1799T>G | |
| 15 | g.91002154A>G | CA393886694 | VPS33B | c.1301T>C (p.Phe434Ser) c.1220T>C (p.Phe407Ser) c.*996T>C (n.*996T>C) c.1028T>C (p.Phe343Ser) c.1223T>C (p.Phe408Ser) c.977T>C (p.Phe326Ser) c.956T>C (p.Phe319Ser) n.1799T>C | gnomAD v4 |
| 15 | g.91002154A>T | CA393886696 | VPS33B | c.1301T>A (p.Phe434Tyr) c.1220T>A (p.Phe407Tyr) c.*996T>A (n.*996T>A) c.1028T>A (p.Phe343Tyr) c.1223T>A (p.Phe408Tyr) c.977T>A (p.Phe326Tyr) c.956T>A (p.Phe319Tyr) n.1799T>A | |
| 15 | g.91002155A>C | CA393886698 | VPS33B | c.1300T>G (p.Phe434Val) c.1219T>G (p.Phe407Val) c.*995T>G (n.*995T>G) c.1027T>G (p.Phe343Val) c.1222T>G (p.Phe408Val) c.976T>G (p.Phe326Val) c.955T>G (p.Phe319Val) n.1798T>G | |
| 15 | g.91002155A>G | CA393886701 | VPS33B | c.1300T>C (p.Phe434Leu) c.1219T>C (p.Phe407Leu) c.*995T>C (n.*995T>C) c.1027T>C (p.Phe343Leu) c.1222T>C (p.Phe408Leu) c.976T>C (p.Phe326Leu) c.955T>C (p.Phe319Leu) n.1798T>C | gnomAD v4 |
| 15 | g.91002155A>T | CA393886697 | VPS33B | c.1300T>A (p.Phe434Ile) c.1219T>A (p.Phe407Ile) c.*995T>A (n.*995T>A) c.1027T>A (p.Phe343Ile) c.1222T>A (p.Phe408Ile) c.976T>A (p.Phe326Ile) c.955T>A (p.Phe319Ile) n.1798T>A | |
| 15 | g.91002156G>A | CA492204461 | VPS33B | c.1299C>T (p.Thr433=) c.1218C>T (p.Thr406=) c.*994C>T (n.*994C>T) c.1026C>T (p.Thr342=) c.1221C>T (p.Thr407=) c.975C>T (p.Thr325=) c.954C>T (p.Thr318=) n.1797C>T | |
| 15 | g.91002156G>C | CA7744688 | VPS33B | c.1299C>G (p.Thr433=) c.1218C>G (p.Thr406=) c.*994C>G (n.*994C>G) c.1026C>G (p.Thr342=) c.1221C>G (p.Thr407=) c.975C>G (p.Thr325=) c.954C>G (p.Thr318=) n.1797C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002156G= | CA2195399007 | VPS33B | c.1299C= (p.Thr433=) c.1218C= (p.Thr406=) c.*994C= (n.*994C=) c.1026C= (p.Thr342=) c.1221C= (p.Thr407=) c.975C= (p.Thr325=) c.954C= (p.Thr318=) n.1797C= | |
| 15 | g.91002156G>T | CA492204462 | VPS33B | c.1299C>A (p.Thr433=) c.1218C>A (p.Thr406=) c.*994C>A (n.*994C>A) c.1026C>A (p.Thr342=) c.1221C>A (p.Thr407=) c.975C>A (p.Thr325=) c.954C>A (p.Thr318=) n.1797C>A | |
| 15 | g.91002157G>A | CA393886704 | VPS33B | c.1298C>T (p.Thr433Ile) c.1217C>T (p.Thr406Ile) c.*993C>T (n.*993C>T) c.1025C>T (p.Thr342Ile) c.1220C>T (p.Thr407Ile) c.974C>T (p.Thr325Ile) c.953C>T (p.Thr318Ile) n.1796C>T | |
| 15 | g.91002157G>C | CA393886705 | VPS33B | c.1298C>G (p.Thr433Ser) c.1217C>G (p.Thr406Ser) c.*993C>G (n.*993C>G) c.1025C>G (p.Thr342Ser) c.1220C>G (p.Thr407Ser) c.974C>G (p.Thr325Ser) c.953C>G (p.Thr318Ser) n.1796C>G | |
| 15 | g.91002157G= | CA2195399008 | VPS33B | c.1298C= (p.Thr433=) c.1217C= (p.Thr406=) c.*993C= (n.*993C=) c.1025C= (p.Thr342=) c.1220C= (p.Thr407=) c.974C= (p.Thr325=) c.953C= (p.Thr318=) n.1796C= | |
| 15 | g.91002157G>T | CA274811395 | VPS33B | c.1298C>A (p.Thr433Asn) c.1217C>A (p.Thr406Asn) c.*993C>A (n.*993C>A) c.1025C>A (p.Thr342Asn) c.1220C>A (p.Thr407Asn) c.974C>A (p.Thr325Asn) c.953C>A (p.Thr318Asn) n.1796C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.91002158T>A | CA393886709 | VPS33B | c.1297A>T (p.Thr433Ser) c.1216A>T (p.Thr406Ser) c.*992A>T (n.*992A>T) c.1024A>T (p.Thr342Ser) c.1219A>T (p.Thr407Ser) c.973A>T (p.Thr325Ser) c.952A>T (p.Thr318Ser) n.1795A>T | |
| 15 | g.91002158T>C | CA393886711 | VPS33B | c.1297A>G (p.Thr433Ala) c.1216A>G (p.Thr406Ala) c.*992A>G (n.*992A>G) c.1024A>G (p.Thr342Ala) c.1219A>G (p.Thr407Ala) c.973A>G (p.Thr325Ala) c.952A>G (p.Thr318Ala) n.1795A>G | |
| 15 | g.91002158T>G | CA393886713 | VPS33B | c.1297A>C (p.Thr433Pro) c.1216A>C (p.Thr406Pro) c.*992A>C (n.*992A>C) c.1024A>C (p.Thr342Pro) c.1219A>C (p.Thr407Pro) c.973A>C (p.Thr325Pro) c.952A>C (p.Thr318Pro) n.1795A>C | |
| 15 | g.91002159T>A | CA492204471 | VPS33B | c.1296A>T (p.Leu432=) c.1215A>T (p.Leu405=) c.*991A>T (n.*991A>T) c.1023A>T (p.Leu341=) c.1218A>T (p.Leu406=) c.972A>T (p.Leu324=) c.951A>T (p.Leu317=) n.1794A>T | |
| 15 | g.91002159T>C | CA492204472 | VPS33B | c.1296A>G (p.Leu432=) c.1215A>G (p.Leu405=) c.*991A>G (n.*991A>G) c.1023A>G (p.Leu341=) c.1218A>G (p.Leu406=) c.972A>G (p.Leu324=) c.951A>G (p.Leu317=) n.1794A>G | gnomAD v4 |
| 15 | g.91002159T>G | CA492204474 | VPS33B | c.1296A>C (p.Leu432=) c.1215A>C (p.Leu405=) c.*991A>C (n.*991A>C) c.1023A>C (p.Leu341=) c.1218A>C (p.Leu406=) c.972A>C (p.Leu324=) c.951A>C (p.Leu317=) n.1794A>C | |
| 15 | g.91002160A>C | CA393886716 | VPS33B | c.1295T>G (p.Leu432Arg) c.1214T>G (p.Leu405Arg) c.*990T>G (n.*990T>G) c.1022T>G (p.Leu341Arg) c.1217T>G (p.Leu406Arg) c.971T>G (p.Leu324Arg) c.950T>G (p.Leu317Arg) n.1793T>G | gnomAD v4 |
| 15 | g.91002160A>G | CA393886718 | VPS33B | c.1295T>C (p.Leu432Pro) c.1214T>C (p.Leu405Pro) c.*990T>C (n.*990T>C) c.1022T>C (p.Leu341Pro) c.1217T>C (p.Leu406Pro) c.971T>C (p.Leu324Pro) c.950T>C (p.Leu317Pro) n.1793T>C | |
| 15 | g.91002160A>T | CA393886720 | VPS33B | c.1295T>A (p.Leu432Gln) c.1214T>A (p.Leu405Gln) c.*990T>A (n.*990T>A) c.1022T>A (p.Leu341Gln) c.1217T>A (p.Leu406Gln) c.971T>A (p.Leu324Gln) c.950T>A (p.Leu317Gln) n.1793T>A |