Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.62625255_62625257dup | CA2645999421 | DOCK7 | c.1131+3_1131+5dup (n.1131+3_1131+5dup) c.1425+3_1425+5dup (n.1425+3_1425+5dup) c.361_363dup c.1101+3_1101+5dup (n.1101+3_1101+5dup) | gnomAD v4 |
1 | g.62625257A>C | CA340616272 | DOCK7 | c.1131+2T>G (n.1131+2T>G) c.1425+2T>G (n.1425+2T>G) c.360T>G c.1101+2T>G (n.1101+2T>G) | |
1 | g.62625257A>G | CA340616278 | DOCK7 | c.1131+2T>C (n.1131+2T>C) c.1425+2T>C (n.1425+2T>C) c.360T>C c.1101+2T>C (n.1101+2T>C) | |
1 | g.62625257A>T | CA340616281 | DOCK7 | c.1131+2T>A (n.1131+2T>A) c.1425+2T>A (n.1425+2T>A) c.360T>A c.1101+2T>A (n.1101+2T>A) | |
1 | g.62625258C>A | CA23773252 | DOCK7 | c.1131+1G>T (n.1131+1G>T) c.1425+1G>T (n.1425+1G>T) c.359G>T c.1101+1G>T (n.1101+1G>T) | dbSNP COSMIC COSMIC COSMIC |
1 | g.62625258C= | CA1171157832 | DOCK7 | c.1131+1G= (n.1131+1G=) c.1425+1G= (n.1425+1G=) c.359G= c.1101+1G= (n.1101+1G=) | |
1 | g.62625258C>G | CA340616286 | DOCK7 | c.1131+1G>C (n.1131+1G>C) c.1425+1G>C (n.1425+1G>C) c.359G>C c.1101+1G>C (n.1101+1G>C) | |
1 | g.62625258C>T | CA340616284 | DOCK7 | c.1131+1G>A (n.1131+1G>A) c.1425+1G>A (n.1425+1G>A) c.359G>A c.1101+1G>A (n.1101+1G>A) | |
1 | g.62625259C>A | CA340616299 | DOCK7 | c.1131G>T (n.1131G>T) c.1425G>T (p.Gln475His) c.358G>T c.1101G>T (p.Gln367His) | |
1 | g.62625259C>G | CA340616306 | DOCK7 | c.1131G>C (n.1131G>C) c.1425G>C (p.Gln475His) c.358G>C c.1101G>C (p.Gln367His) | |
1 | g.62625259C>T | CA418005922 | DOCK7 | c.1131G>A (n.1131G>A) c.1425G>A (p.Gln475=) c.358G>A c.1101G>A (p.Gln367=) | |
1 | g.62625260T>A | CA340616312 | DOCK7 | c.1130A>T (n.1130A>T) c.1424A>T (p.Gln475Leu) c.357A>T c.1100A>T (p.Gln367Leu) | |
1 | g.62625260T>C | CA340616323 | DOCK7 | c.1130A>G (n.1130A>G) c.1424A>G (p.Gln475Arg) c.357A>G c.1100A>G (p.Gln367Arg) | |
1 | g.62625260T>G | CA340616344 | DOCK7 | c.1130A>C (n.1130A>C) c.1424A>C (p.Gln475Pro) c.357A>C c.1100A>C (p.Gln367Pro) | |
1 | g.62625261G>A | CA340616347 | DOCK7 | c.1129C>T (n.1129C>T) c.1423C>T (p.Gln475Ter) c.356C>T c.1099C>T (p.Gln367Ter) | |
1 | g.62625261G>C | CA340616348 | DOCK7 | c.1129C>G (n.1129C>G) c.1423C>G (p.Gln475Glu) c.356C>G c.1099C>G (p.Gln367Glu) | |
1 | g.62625261G>T | CA340616351 | DOCK7 | c.1129C>A (n.1129C>A) c.1423C>A (p.Gln475Lys) c.356C>A c.1099C>A (p.Gln367Lys) | |
1 | g.62625262C>A | CA340616361 | DOCK7 | c.1128G>T (n.1128G>T) c.1422G>T (p.Lys474Asn) c.355G>T c.1098G>T (p.Lys366Asn) | |
1 | g.62625262C>G | CA340616363 | DOCK7 | c.1128G>C (n.1128G>C) c.1422G>C (p.Lys474Asn) c.355G>C c.1098G>C (p.Lys366Asn) | |
1 | g.62625262C>T | CA418005923 | DOCK7 | c.1128G>A (n.1128G>A) c.1422G>A (p.Lys474=) c.355G>A c.1098G>A (p.Lys366=) | |
1 | g.62625263T>A | CA340616365 | DOCK7 | c.1127A>T (n.1127A>T) c.1421A>T (p.Lys474Met) c.354A>T c.1097A>T (p.Lys366Met) | |
1 | g.62625263T>C | CA340616367 | DOCK7 | c.1127A>G (n.1127A>G) c.1421A>G (p.Lys474Arg) c.354A>G c.1097A>G (p.Lys366Arg) | |
1 | g.62625263T>G | CA340616369 | DOCK7 | c.1127A>C (n.1127A>C) c.1421A>C (p.Lys474Thr) c.354A>C c.1097A>C (p.Lys366Thr) | |
1 | g.62625264T>A | CA340616371 | DOCK7 | c.1126A>T (n.1126A>T) c.1420A>T (p.Lys474Ter) c.353A>T c.1096A>T (p.Lys366Ter) | |
1 | g.62625264T>C | CA340616381 | DOCK7 | c.1126A>G (n.1126A>G) c.1420A>G (p.Lys474Glu) c.353A>G c.1096A>G (p.Lys366Glu) | |
1 | g.62625264T>G | CA340616377 | DOCK7 | c.1126A>C (n.1126A>C) c.1420A>C (p.Lys474Gln) c.353A>C c.1096A>C (p.Lys366Gln) | |
1 | g.62625264_62625265delinsTA | CA1171157833 | DOCK7 | c.1125_1126delinsTA (n.1125_1126delinsTA) c.1419_1420delinsTA (p.Phe473=) c.352_353delinsTA c.1095_1096delinsTA (p.Phe365=) | |
1 | g.62625265A= | CA1171157834 | DOCK7 | c.1125T= (n.1125T=) c.1419T= (p.Phe473=) c.352T= c.1095T= (p.Phe365=) | |
1 | g.62625265A>C | CA340616384 | DOCK7 | c.1125T>G (n.1125T>G) c.1419T>G (p.Phe473Leu) c.352T>G c.1095T>G (p.Phe365Leu) | |
1 | g.62625265A>G | CA23773263 | DOCK7 | c.1125T>C (n.1125T>C) c.1419T>C (p.Phe473=) c.352T>C c.1095T>C (p.Phe365=) | dbSNP |
1 | g.62625265A>T | CA340616386 | DOCK7 | c.1125T>A (n.1125T>A) c.1419T>A (p.Phe473Leu) c.352T>A c.1095T>A (p.Phe365Leu) | COSMIC COSMIC COSMIC |
1 | g.62625271del | CA418005924 | DOCK7 | c.1125del (n.1125del) c.1419del (p.Phe473LeufsTer8) c.352del c.1095del (p.Phe365LeufsTer8) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.62625266A>C | CA340616388 | DOCK7 | c.1124T>G (n.1124T>G) c.1418T>G (p.Phe473Cys) c.351T>G c.1094T>G (p.Phe365Cys) | |
1 | g.62625266A>G | CA340616390 | DOCK7 | c.1124T>C (n.1124T>C) c.1418T>C (p.Phe473Ser) c.351T>C c.1094T>C (p.Phe365Ser) | |
1 | g.62625266A>T | CA340616393 | DOCK7 | c.1124T>A (n.1124T>A) c.1418T>A (p.Phe473Tyr) c.351T>A c.1094T>A (p.Phe365Tyr) | |
1 | g.62625267A>C | CA340616396 | DOCK7 | c.1123T>G (n.1123T>G) c.1417T>G (p.Phe473Val) c.350T>G c.1093T>G (p.Phe365Val) | |
1 | g.62625267A>G | CA340616398 | DOCK7 | c.1123T>C (n.1123T>C) c.1417T>C (p.Phe473Leu) c.350T>C c.1093T>C (p.Phe365Leu) | |
1 | g.62625267A>T | CA340616401 | DOCK7 | c.1123T>A (n.1123T>A) c.1417T>A (p.Phe473Ile) c.350T>A c.1093T>A (p.Phe365Ile) | |
1 | g.62625268A>C | CA340616405 | DOCK7 | c.1122T>G (n.1122T>G) c.1416T>G (p.Phe472Leu) c.349T>G c.1092T>G (p.Phe364Leu) | |
1 | g.62625268A>G | CA418005925 | DOCK7 | c.1122T>C (n.1122T>C) c.1416T>C (p.Phe472=) c.349T>C c.1092T>C (p.Phe364=) | |
1 | g.62625268A>T | CA340616408 | DOCK7 | c.1122T>A (n.1122T>A) c.1416T>A (p.Phe472Leu) c.349T>A c.1092T>A (p.Phe364Leu) | |
1 | g.62625269A>C | CA340616411 | DOCK7 | c.1121T>G (n.1121T>G) c.1415T>G (p.Phe472Cys) c.348T>G c.1091T>G (p.Phe364Cys) | gnomAD v4 |
1 | g.62625269A>G | CA340616413 | DOCK7 | c.1121T>C (n.1121T>C) c.1415T>C (p.Phe472Ser) c.348T>C c.1091T>C (p.Phe364Ser) | |
1 | g.62625269A>T | CA340616409 | DOCK7 | c.1121T>A (n.1121T>A) c.1415T>A (p.Phe472Tyr) c.348T>A c.1091T>A (p.Phe364Tyr) | |
1 | g.62625270A= | CA1171157835 | DOCK7 | c.1120T= (n.1120T=) c.1414T= (p.Phe472=) c.347T= c.1090T= (p.Phe364=) | |
1 | g.62625270A>C | CA340616420 | DOCK7 | c.1120T>G (n.1120T>G) c.1414T>G (p.Phe472Val) c.347T>G c.1090T>G (p.Phe364Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.62625270A>G | CA340616415 | DOCK7 | c.1120T>C (n.1120T>C) c.1414T>C (p.Phe472Leu) c.347T>C c.1090T>C (p.Phe364Leu) | |
1 | g.62625270A>T | CA340616419 | DOCK7 | c.1120T>A (n.1120T>A) c.1414T>A (p.Phe472Ile) c.347T>A c.1090T>A (p.Phe364Ile) | |
1 | g.62625271A>C | CA340616421 | DOCK7 | c.1119T>G (n.1119T>G) c.1413T>G (p.Asn471Lys) c.346T>G c.1089T>G (p.Asn363Lys) | |
1 | g.62625271A>G | CA418005926 | DOCK7 | c.1119T>C (n.1119T>C) c.1413T>C (p.Asn471=) c.346T>C c.1089T>C (p.Asn363=) | gnomAD v4 |
1 | g.62625271A>T | CA340616422 | DOCK7 | c.1119T>A (n.1119T>A) c.1413T>A (p.Asn471Lys) c.346T>A c.1089T>A (p.Asn363Lys) | |
1 | g.62625271_62625274del | CA2645999424 | DOCK7 | c.1116_1119del (n.1116_1119del) c.1410_1413del (p.Asn471PhefsTer9) c.343_346del c.1086_1089del (p.Asn363PhefsTer9) | gnomAD v4 |
1 | g.62625272T>A | CA340616423 | DOCK7 | c.1118A>T (n.1118A>T) c.1412A>T (p.Asn471Ile) c.345A>T c.1088A>T (p.Asn363Ile) | gnomAD v4 COSMIC |
1 | g.62625272T>C | CA340616424 | DOCK7 | c.1118A>G (n.1118A>G) c.1412A>G (p.Asn471Ser) c.345A>G c.1088A>G (p.Asn363Ser) | |
1 | g.62625272T>G | CA340616425 | DOCK7 | c.1118A>C (n.1118A>C) c.1412A>C (p.Asn471Thr) c.345A>C c.1088A>C (p.Asn363Thr) | |
1 | g.62625273T>A | CA340616427 | DOCK7 | c.1117A>T (n.1117A>T) c.1411A>T (p.Asn471Tyr) c.344A>T c.1087A>T (p.Asn363Tyr) | |
1 | g.62625273T>C | CA340616433 | DOCK7 | c.1117A>G (n.1117A>G) c.1411A>G (p.Asn471Asp) c.344A>G c.1087A>G (p.Asn363Asp) | |
1 | g.62625273T>G | CA340616434 | DOCK7 | c.1117A>C (n.1117A>C) c.1411A>C (p.Asn471His) c.344A>C c.1087A>C (p.Asn363His) | gnomAD v4 |
1 | g.62625274T>A | CA418005927 | DOCK7 | c.1116A>T (n.1116A>T) c.1410A>T (p.Thr470=) c.343A>T c.1086A>T (p.Thr362=) | |
1 | g.62625274T>C | CA418005928 | DOCK7 | c.1116A>G (n.1116A>G) c.1410A>G (p.Thr470=) c.343A>G c.1086A>G (p.Thr362=) | |
1 | g.62625274T>G | CA886959 | DOCK7 | c.1116A>C (n.1116A>C) c.1410A>C (p.Thr470=) c.343A>C c.1086A>C (p.Thr362=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625274T= | CA1143423433 | DOCK7 | c.1116A= (n.1116A=) c.1410A= (p.Thr470=) c.343A= c.1086A= (p.Thr362=) | |
1 | g.62625275G>A | CA340616442 | DOCK7 | c.1115C>T (n.1115C>T) c.1409C>T (p.Thr470Ile) c.342C>T c.1085C>T (p.Thr362Ile) | |
1 | g.62625275G>C | CA340616441 | DOCK7 | c.1115C>G (n.1115C>G) c.1409C>G (p.Thr470Arg) c.342C>G c.1085C>G (p.Thr362Arg) | |
1 | g.62625275G>T | CA340616438 | DOCK7 | c.1115C>A (n.1115C>A) c.1409C>A (p.Thr470Lys) c.342C>A c.1085C>A (p.Thr362Lys) | |
1 | g.62625276T>A | CA340616445 | DOCK7 | c.1114A>T (n.1114A>T) c.1408A>T (p.Thr470Ser) c.341A>T c.1084A>T (p.Thr362Ser) | COSMIC COSMIC COSMIC |
1 | g.62625276T>C | CA340616446 | DOCK7 | c.1114A>G (n.1114A>G) c.1408A>G (p.Thr470Ala) c.341A>G c.1084A>G (p.Thr362Ala) | gnomAD v4 |
1 | g.62625276T>G | CA340616448 | DOCK7 | c.1114A>C (n.1114A>C) c.1408A>C (p.Thr470Pro) c.341A>C c.1084A>C (p.Thr362Pro) | |
1 | g.62625277C>A | CA418005931 | DOCK7 | c.1113G>T (n.1113G>T) c.1407G>T (p.Val469=) c.340G>T c.1083G>T (p.Val361=) | dbSNP |
1 | g.62625277C= | CA1171157836 | DOCK7 | c.1113G= (n.1113G=) c.1407G= (p.Val469=) c.340G= c.1083G= (p.Val361=) | |
1 | g.62625277C>G | CA418005929 | DOCK7 | c.1113G>C (n.1113G>C) c.1407G>C (p.Val469=) c.340G>C c.1083G>C (p.Val361=) | |
1 | g.62625277C>T | CA418005930 | DOCK7 | c.1113G>A (n.1113G>A) c.1407G>A (p.Val469=) c.340G>A c.1083G>A (p.Val361=) | |
1 | g.62625278A>C | CA340616450 | DOCK7 | c.1112T>G (n.1112T>G) c.1406T>G (p.Val469Gly) c.339T>G c.1082T>G (p.Val361Gly) | |
1 | g.62625278A>G | CA340616454 | DOCK7 | c.1112T>C (n.1112T>C) c.1406T>C (p.Val469Ala) c.339T>C c.1082T>C (p.Val361Ala) | |
1 | g.62625278A>T | CA340616456 | DOCK7 | c.1112T>A (n.1112T>A) c.1406T>A (p.Val469Glu) c.339T>A c.1082T>A (p.Val361Glu) | |
1 | g.62625279C>A | CA886960 | DOCK7 | c.1111G>T (n.1111G>T) c.1405G>T (p.Val469Leu) c.338G>T c.1081G>T (p.Val361Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.62625279C= | CA1141692997 | DOCK7 | c.1111G= (n.1111G=) c.1405G= (p.Val469=) c.338G= c.1081G= (p.Val361=) | |
1 | g.62625279C>G | CA340616460 | DOCK7 | c.1111G>C (n.1111G>C) c.1405G>C (p.Val469Leu) c.338G>C c.1081G>C (p.Val361Leu) | |
1 | g.62625279C>T | CA340616462 | DOCK7 | c.1111G>A (n.1111G>A) c.1405G>A (p.Val469Met) c.338G>A c.1081G>A (p.Val361Met) | dbSNP |
1 | g.62625280T>A | CA418005932 | DOCK7 | c.1110A>T (n.1110A>T) c.1404A>T (p.Thr468=) c.337A>T c.1080A>T (p.Thr360=) | |
1 | g.62625280T>C | CA886961 | DOCK7 | c.1110A>G (n.1110A>G) c.1404A>G (p.Thr468=) c.337A>G c.1080A>G (p.Thr360=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.62625280T>G | CA418005933 | DOCK7 | c.1110A>C (n.1110A>C) c.1404A>C (p.Thr468=) c.337A>C c.1080A>C (p.Thr360=) | |
1 | g.62625280T= | CA1171157837 | DOCK7 | c.1110A= (n.1110A=) c.1404A= (p.Thr468=) c.337A= c.1080A= (p.Thr360=) | |
1 | g.62625281G>A | CA340616475 | DOCK7 | c.1109C>T (n.1109C>T) c.1403C>T (p.Thr468Ile) c.336C>T c.1079C>T (p.Thr360Ile) | |
1 | g.62625281G>C | CA340616478 | DOCK7 | c.1109C>G (n.1109C>G) c.1403C>G (p.Thr468Arg) c.336C>G c.1079C>G (p.Thr360Arg) | |
1 | g.62625281G>T | CA340616479 | DOCK7 | c.1109C>A (n.1109C>A) c.1403C>A (p.Thr468Lys) c.336C>A c.1079C>A (p.Thr360Lys) | |
1 | g.62625281dup | CA2645999425 | DOCK7 | c.1109dup (n.1109dup) c.1403dup (p.Val469SerfsTer6) c.336dup c.1079dup (p.Val361SerfsTer6) | gnomAD v4 |
1 | g.62625282T>A | CA340616482 | DOCK7 | c.1108A>T (n.1108A>T) c.1402A>T (p.Thr468Ser) c.335A>T c.1078A>T (p.Thr360Ser) | |
1 | g.62625282T>C | CA340616485 | DOCK7 | c.1108A>G (n.1108A>G) c.1402A>G (p.Thr468Ala) c.335A>G c.1078A>G (p.Thr360Ala) | |
1 | g.62625282T>G | CA340616481 | DOCK7 | c.1108A>C (n.1108A>C) c.1402A>C (p.Thr468Pro) c.335A>C c.1078A>C (p.Thr360Pro) | |
1 | g.62625283G>A | CA886962 | DOCK7 | c.1107C>T (n.1107C>T) c.1401C>T (p.Leu467=) c.334C>T c.1077C>T (p.Leu359=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625283G>C | CA418005934 | DOCK7 | c.1107C>G (n.1107C>G) c.1401C>G (p.Leu467=) c.334C>G c.1077C>G (p.Leu359=) | |
1 | g.62625283G= | CA1143893706 | DOCK7 | c.1107C= (n.1107C=) c.1401C= (p.Leu467=) c.334C= c.1077C= (p.Leu359=) | |
1 | g.62625283G>T | CA418005935 | DOCK7 | c.1107C>A (n.1107C>A) c.1401C>A (p.Leu467=) c.334C>A c.1077C>A (p.Leu359=) | |
1 | g.62625284A>C | CA340616489 | DOCK7 | c.1106T>G (n.1106T>G) c.1400T>G (p.Leu467Arg) c.333T>G c.1076T>G (p.Leu359Arg) | |
1 | g.62625284A>G | CA340616492 | DOCK7 | c.1106T>C (n.1106T>C) c.1400T>C (p.Leu467Pro) c.333T>C c.1076T>C (p.Leu359Pro) | |
1 | g.62625284A>T | CA340616497 | DOCK7 | c.1106T>A (n.1106T>A) c.1400T>A (p.Leu467His) c.333T>A c.1076T>A (p.Leu359His) | |
1 | g.62625285G>A | CA340616509 | DOCK7 | c.1105C>T (n.1105C>T) c.1399C>T (p.Leu467Phe) c.332C>T c.1075C>T (p.Leu359Phe) | |
1 | g.62625285G>C | CA340616510 | DOCK7 | c.1105C>G (n.1105C>G) c.1399C>G (p.Leu467Val) c.332C>G c.1075C>G (p.Leu359Val) | |
1 | g.62625285G>T | CA340616513 | DOCK7 | c.1105C>A (n.1105C>A) c.1399C>A (p.Leu467Ile) c.332C>A c.1075C>A (p.Leu359Ile) | |
1 | g.62625286A>C | CA418005936 | DOCK7 | c.1104T>G (n.1104T>G) c.1398T>G (p.Thr466=) c.331T>G c.1074T>G (p.Thr358=) | |
1 | g.62625286A>G | CA418005938 | DOCK7 | c.1104T>C (n.1104T>C) c.1398T>C (p.Thr466=) c.331T>C c.1074T>C (p.Thr358=) | gnomAD v4 |
1 | g.62625286A>T | CA418005937 | DOCK7 | c.1104T>A (n.1104T>A) c.1398T>A (p.Thr466=) c.331T>A c.1074T>A (p.Thr358=) | |
1 | g.62625287G>A | CA340616515 | DOCK7 | c.1103C>T (n.1103C>T) c.1397C>T (p.Thr466Ile) c.330C>T c.1073C>T (p.Thr358Ile) | dbSNP |
1 | g.62625287G>C | CA340616516 | DOCK7 | c.1103C>G (n.1103C>G) c.1397C>G (p.Thr466Ser) c.330C>G c.1073C>G (p.Thr358Ser) | |
1 | g.62625287G= | CA1171157838 | DOCK7 | c.1103C= (n.1103C=) c.1397C= (p.Thr466=) c.330C= c.1073C= (p.Thr358=) | |
1 | g.62625287G>T | CA340616520 | DOCK7 | c.1103C>A (n.1103C>A) c.1397C>A (p.Thr466Asn) c.330C>A c.1073C>A (p.Thr358Asn) | |
1 | g.62625288T>A | CA340616528 | DOCK7 | c.1102A>T (n.1102A>T) c.1396A>T (p.Thr466Ser) c.329A>T c.1072A>T (p.Thr358Ser) | |
1 | g.62625288T>C | CA340616532 | DOCK7 | c.1102A>G (n.1102A>G) c.1396A>G (p.Thr466Ala) c.329A>G c.1072A>G (p.Thr358Ala) | |
1 | g.62625288T>G | CA340616537 | DOCK7 | c.1102A>C (n.1102A>C) c.1396A>C (p.Thr466Pro) c.329A>C c.1072A>C (p.Thr358Pro) | |
1 | g.62625289A>C | CA418005939 | DOCK7 | c.1101T>G (n.1101T>G) c.1395T>G (p.Ala465=) c.328T>G c.1071T>G (p.Ala357=) | |
1 | g.62625289A>G | CA418005940 | DOCK7 | c.1101T>C (n.1101T>C) c.1395T>C (p.Ala465=) c.328T>C c.1071T>C (p.Ala357=) | gnomAD v4 |
1 | g.62625289A>T | CA418005941 | DOCK7 | c.1101T>A (n.1101T>A) c.1395T>A (p.Ala465=) c.328T>A c.1071T>A (p.Ala357=) | gnomAD v4 |
1 | g.62625290G>A | CA886963 | DOCK7 | c.1100C>T (n.1100C>T) c.1394C>T (p.Ala465Val) c.327C>T c.1070C>T (p.Ala357Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625290G>C | CA340616540 | DOCK7 | c.1100C>G (n.1100C>G) c.1394C>G (p.Ala465Gly) c.327C>G c.1070C>G (p.Ala357Gly) | |
1 | g.62625290G= | CA1171157839 | DOCK7 | c.1100C= (n.1100C=) c.1394C= (p.Ala465=) c.327C= c.1070C= (p.Ala357=) | |
1 | g.62625290G>T | CA340616539 | DOCK7 | c.1100C>A (n.1100C>A) c.1394C>A (p.Ala465Asp) c.327C>A c.1070C>A (p.Ala357Asp) | |
1 | g.62625291C>A | CA340616542 | DOCK7 | c.1099G>T (n.1099G>T) c.1393G>T (p.Ala465Ser) c.326G>T c.1069G>T (p.Ala357Ser) | |
1 | g.62625291C= | CA1143736532 | DOCK7 | c.1099G= (n.1099G=) c.1393G= (p.Ala465=) c.326G= c.1069G= (p.Ala357=) | |
1 | g.62625291C>G | CA886964 | DOCK7 | c.1099G>C (n.1099G>C) c.1393G>C (p.Ala465Pro) c.326G>C c.1069G>C (p.Ala357Pro) | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.62625291C>T | CA340616561 | DOCK7 | c.1099G>A (n.1099G>A) c.1393G>A (p.Ala465Thr) c.326G>A c.1069G>A (p.Ala357Thr) | |
1 | g.62625292T>A | CA418005942 | DOCK7 | c.1098A>T (n.1098A>T) c.1392A>T (p.Pro464=) c.325A>T c.1068A>T (p.Pro356=) | |
1 | g.62625292T>C | CA886965 | DOCK7 | c.1098A>G (n.1098A>G) c.1392A>G (p.Pro464=) c.325A>G c.1068A>G (p.Pro356=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625292T>G | CA418005943 | DOCK7 | c.1098A>C (n.1098A>C) c.1392A>C (p.Pro464=) c.325A>C c.1068A>C (p.Pro356=) | |
1 | g.62625292T= | CA1141513814 | DOCK7 | c.1098A= (n.1098A=) c.1392A= (p.Pro464=) c.325A= c.1068A= (p.Pro356=) | |
1 | g.62625293G>A | CA340616564 | DOCK7 | c.1097C>T (n.1097C>T) c.1391C>T (p.Pro464Leu) c.324C>T c.1067C>T (p.Pro356Leu) | |
1 | g.62625293G>C | CA340616574 | DOCK7 | c.1097C>G (n.1097C>G) c.1391C>G (p.Pro464Arg) c.324C>G c.1067C>G (p.Pro356Arg) | |
1 | g.62625293G>T | CA340616575 | DOCK7 | c.1097C>A (n.1097C>A) c.1391C>A (p.Pro464Gln) c.324C>A c.1067C>A (p.Pro356Gln) | |
1 | g.62625294G>A | CA340616578 | DOCK7 | c.1096C>T (n.1096C>T) c.1390C>T (p.Pro464Ser) c.323C>T c.1066C>T (p.Pro356Ser) | |
1 | g.62625294G>C | CA340616588 | DOCK7 | c.1096C>G (n.1096C>G) c.1390C>G (p.Pro464Ala) c.323C>G c.1066C>G (p.Pro356Ala) | |
1 | g.62625294G>T | CA340616591 | DOCK7 | c.1096C>A (n.1096C>A) c.1390C>A (p.Pro464Thr) c.323C>A c.1066C>A (p.Pro356Thr) | |
1 | g.62625295T>A | CA418005944 | DOCK7 | c.1095A>T (n.1095A>T) c.1389A>T (p.Arg463=) c.322A>T c.1065A>T (p.Arg355=) | |
1 | g.62625295T>C | CA418005945 | DOCK7 | c.1095A>G (n.1095A>G) c.1389A>G (p.Arg463=) c.322A>G c.1065A>G (p.Arg355=) | |
1 | g.62625295T>G | CA886966 | DOCK7 | c.1095A>C (n.1095A>C) c.1389A>C (p.Arg463=) c.322A>C c.1065A>C (p.Arg355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625295T= | CA1140581234 | DOCK7 | c.1095A= (n.1095A=) c.1389A= (p.Arg463=) c.322A= c.1065A= (p.Arg355=) | |
1 | g.62625296C>A | CA340616598 | DOCK7 | c.1094G>T (n.1094G>T) c.1388G>T (p.Arg463Leu) c.321G>T c.1064G>T (p.Arg355Leu) | gnomAD v4 |
1 | g.62625296C= | CA1171157840 | DOCK7 | c.1094G= (n.1094G=) c.1388G= (p.Arg463=) c.321G= c.1064G= (p.Arg355=) | |
1 | g.62625296C>G | CA340616605 | DOCK7 | c.1094G>C (n.1094G>C) c.1388G>C (p.Arg463Pro) c.321G>C c.1064G>C (p.Arg355Pro) | |
1 | g.62625296C>T | CA340616608 | DOCK7 | c.1094G>A (n.1094G>A) c.1388G>A (p.Arg463Gln) c.321G>A c.1064G>A (p.Arg355Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625297G>A | CA886967 | DOCK7 | c.1093C>T (n.1093C>T) c.1387C>T (p.Arg463Ter) c.320C>T c.1063C>T (p.Arg355Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625297G>C | CA340616619 | DOCK7 | c.1093C>G (n.1093C>G) c.1387C>G (p.Arg463Gly) c.320C>G c.1063C>G (p.Arg355Gly) | |
1 | g.62625297G= | CA1171157841 | DOCK7 | c.1093C= (n.1093C=) c.1387C= (p.Arg463=) c.320C= c.1063C= (p.Arg355=) | |
1 | g.62625297G>T | CA418005946 | DOCK7 | c.1093C>A (n.1093C>A) c.1387C>A (p.Arg463=) c.320C>A c.1063C>A (p.Arg355=) | |
1 | g.62625298A>C | CA340616628 | DOCK7 | c.1092T>G (n.1092T>G) c.1386T>G (p.Phe462Leu) c.319T>G c.1062T>G (p.Phe354Leu) | |
1 | g.62625298A>G | CA418005947 | DOCK7 | c.1092T>C (n.1092T>C) c.1386T>C (p.Phe462=) c.319T>C c.1062T>C (p.Phe354=) | |
1 | g.62625298A>T | CA340616629 | DOCK7 | c.1092T>A (n.1092T>A) c.1386T>A (p.Phe462Leu) c.319T>A c.1062T>A (p.Phe354Leu) | |
1 | g.62625299A>C | CA340616632 | DOCK7 | c.1091T>G (n.1091T>G) c.1385T>G (p.Phe462Cys) c.318T>G c.1061T>G (p.Phe354Cys) | |
1 | g.62625299A>G | CA340616637 | DOCK7 | c.1091T>C (n.1091T>C) c.1385T>C (p.Phe462Ser) c.318T>C c.1061T>C (p.Phe354Ser) | |
1 | g.62625299A>T | CA340616634 | DOCK7 | c.1091T>A (n.1091T>A) c.1385T>A (p.Phe462Tyr) c.318T>A c.1061T>A (p.Phe354Tyr) | |
1 | g.62625300A>C | CA340616641 | DOCK7 | c.1090T>G (n.1090T>G) c.1384T>G (p.Phe462Val) c.317T>G c.1060T>G (p.Phe354Val) | |
1 | g.62625300A>G | CA340616646 | DOCK7 | c.1090T>C (n.1090T>C) c.1384T>C (p.Phe462Leu) c.317T>C c.1060T>C (p.Phe354Leu) | |
1 | g.62625300A>T | CA340616645 | DOCK7 | c.1090T>A (n.1090T>A) c.1384T>A (p.Phe462Ile) c.317T>A c.1060T>A (p.Phe354Ile) | |
1 | g.62625301G>A | CA418005948 | DOCK7 | c.1089C>T (n.1089C>T) c.1383C>T (p.Ser461=) c.316C>T c.1059C>T (p.Ser353=) | dbSNP gnomAD v4 |
1 | g.62625301G>C | CA340616656 | DOCK7 | c.1089C>G (n.1089C>G) c.1383C>G (p.Ser461Arg) c.316C>G c.1059C>G (p.Ser353Arg) | |
1 | g.62625301G= | CA1171157842 | DOCK7 | c.1089C= (n.1089C=) c.1383C= (p.Ser461=) c.316C= c.1059C= (p.Ser353=) | |
1 | g.62625301G>T | CA340616657 | DOCK7 | c.1089C>A (n.1089C>A) c.1383C>A (p.Ser461Arg) c.316C>A c.1059C>A (p.Ser353Arg) | |
1 | g.62625302C>A | CA340616663 | DOCK7 | c.1088G>T (n.1088G>T) c.1382G>T (p.Ser461Ile) c.315G>T c.1058G>T (p.Ser353Ile) | |
1 | g.62625302C>G | CA340616666 | DOCK7 | c.1088G>C (n.1088G>C) c.1382G>C (p.Ser461Thr) c.315G>C c.1058G>C (p.Ser353Thr) | |
1 | g.62625302C>T | CA340616665 | DOCK7 | c.1088G>A (n.1088G>A) c.1382G>A (p.Ser461Asn) c.315G>A c.1058G>A (p.Ser353Asn) | |
1 | g.62625303T>A | CA340616667 | DOCK7 | c.1087A>T (n.1087A>T) c.1381A>T (p.Ser461Cys) c.314A>T c.1057A>T (p.Ser353Cys) | |
1 | g.62625303T>C | CA886968 | DOCK7 | c.1087A>G (n.1087A>G) c.1381A>G (p.Ser461Gly) c.314A>G c.1057A>G (p.Ser353Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.62625303T>G | CA340616668 | DOCK7 | c.1087A>C (n.1087A>C) c.1381A>C (p.Ser461Arg) c.314A>C c.1057A>C (p.Ser353Arg) | |
1 | g.62625303T= | CA1171157843 | DOCK7 | c.1087A= (n.1087A=) c.1381A= (p.Ser461=) c.314A= c.1057A= (p.Ser353=) | |
1 | g.62625304C>A | CA418005949 | DOCK7 | c.1086G>T (n.1086G>T) c.1380G>T (p.Thr460=) c.313G>T c.1056G>T (p.Thr352=) | |
1 | g.62625304C= | CA1141721772 | DOCK7 | c.1086G= (n.1086G=) c.1380G= (p.Thr460=) c.313G= c.1056G= (p.Thr352=) | |
1 | g.62625304C>G | CA418005950 | DOCK7 | c.1086G>C (n.1086G>C) c.1380G>C (p.Thr460=) c.313G>C c.1056G>C (p.Thr352=) | |
1 | g.62625304C>T | CA886969 | DOCK7 | c.1086G>A (n.1086G>A) c.1380G>A (p.Thr460=) c.313G>A c.1056G>A (p.Thr352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625305G>A | CA886970 | DOCK7 | c.1085C>T (n.1085C>T) c.1379C>T (p.Thr460Met) c.312C>T c.1055C>T (p.Thr352Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625305G>C | CA340616674 | DOCK7 | c.1085C>G (n.1085C>G) c.1379C>G (p.Thr460Arg) c.312C>G c.1055C>G (p.Thr352Arg) | gnomAD v4 |
1 | g.62625305G= | CA1143975678 | DOCK7 | c.1085C= (n.1085C=) c.1379C= (p.Thr460=) c.312C= c.1055C= (p.Thr352=) | |
1 | g.62625305G>T | CA340616678 | DOCK7 | c.1085C>A (n.1085C>A) c.1379C>A (p.Thr460Lys) c.312C>A c.1055C>A (p.Thr352Lys) | |
1 | g.62625306T>A | CA340616679 | DOCK7 | c.1084A>T (n.1084A>T) c.1378A>T (p.Thr460Ser) c.311A>T c.1054A>T (p.Thr352Ser) | |
1 | g.62625306T>C | CA340616680 | DOCK7 | c.1084A>G (n.1084A>G) c.1378A>G (p.Thr460Ala) c.311A>G c.1054A>G (p.Thr352Ala) | |
1 | g.62625306T>G | CA340616682 | DOCK7 | c.1084A>C (n.1084A>C) c.1378A>C (p.Thr460Pro) c.311A>C c.1054A>C (p.Thr352Pro) | |
1 | g.62625307C>A | CA340616685 | DOCK7 | c.1083G>T (n.1083G>T) c.1377G>T (p.Leu459Phe) c.310G>T c.1053G>T (p.Leu351Phe) | |
1 | g.62625307C>G | CA340616692 | DOCK7 | c.1083G>C (n.1083G>C) c.1377G>C (p.Leu459Phe) c.310G>C c.1053G>C (p.Leu351Phe) | |
1 | g.62625307C>T | CA418005951 | DOCK7 | c.1083G>A (n.1083G>A) c.1377G>A (p.Leu459=) c.310G>A c.1053G>A (p.Leu351=) | gnomAD v4 |
1 | g.62625308A>C | CA340616694 | DOCK7 | c.1082T>G (n.1082T>G) c.1376T>G (p.Leu459Trp) c.309T>G c.1052T>G (p.Leu351Trp) | |
1 | g.62625308A>G | CA340616703 | DOCK7 | c.1082T>C (n.1082T>C) c.1376T>C (p.Leu459Ser) c.309T>C c.1052T>C (p.Leu351Ser) | |
1 | g.62625308A>T | CA340616701 | DOCK7 | c.1082T>A (n.1082T>A) c.1376T>A (p.Leu459Ter) c.309T>A c.1052T>A (p.Leu351Ter) | |
1 | g.62625309A>C | CA340616706 | DOCK7 | c.1081T>G (n.1081T>G) c.1375T>G (p.Leu459Val) c.308T>G c.1051T>G (p.Leu351Val) | gnomAD v4 |
1 | g.62625309A>G | CA418005952 | DOCK7 | c.1081T>C (n.1081T>C) c.1375T>C (p.Leu459=) c.308T>C c.1051T>C (p.Leu351=) | |
1 | g.62625309A>T | CA340616712 | DOCK7 | c.1081T>A (n.1081T>A) c.1375T>A (p.Leu459Met) c.308T>A c.1051T>A (p.Leu351Met) | |
1 | g.62625310G>A | CA418005953 | DOCK7 | c.1080C>T (n.1080C>T) c.1374C>T (p.Asn458=) c.307C>T c.1050C>T (p.Asn350=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.62625310G>C | CA340616715 | DOCK7 | c.1080C>G (n.1080C>G) c.1374C>G (p.Asn458Lys) c.307C>G c.1050C>G (p.Asn350Lys) | |
1 | g.62625310G= | CA1171157844 | DOCK7 | c.1080C= (n.1080C=) c.1374C= (p.Asn458=) c.307C= c.1050C= (p.Asn350=) | |
1 | g.62625310G>T | CA340616717 | DOCK7 | c.1080C>A (n.1080C>A) c.1374C>A (p.Asn458Lys) c.307C>A c.1050C>A (p.Asn350Lys) | |
1 | g.62625311T>A | CA340616718 | DOCK7 | c.1079A>T (n.1079A>T) c.1373A>T (p.Asn458Ile) c.306A>T c.1049A>T (p.Asn350Ile) | |
1 | g.62625311T>C | CA340616720 | DOCK7 | c.1079A>G (n.1079A>G) c.1373A>G (p.Asn458Ser) c.306A>G c.1049A>G (p.Asn350Ser) | gnomAD v4 |
1 | g.62625311T>G | CA340616719 | DOCK7 | c.1079A>C (n.1079A>C) c.1373A>C (p.Asn458Thr) c.306A>C c.1049A>C (p.Asn350Thr) | |
1 | g.62625312T>A | CA340616721 | DOCK7 | c.1078A>T (n.1078A>T) c.1372A>T (p.Asn458Tyr) c.305A>T c.1048A>T (p.Asn350Tyr) | |
1 | g.62625312T>C | CA23773337 | DOCK7 | c.1078A>G (n.1078A>G) c.1372A>G (p.Asn458Asp) c.305A>G c.1048A>G (p.Asn350Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625312T>G | CA340616726 | DOCK7 | c.1078A>C (n.1078A>C) c.1372A>C (p.Asn458His) c.305A>C c.1048A>C (p.Asn350His) | |
1 | g.62625312T= | CA1143548859 | DOCK7 | c.1078A= (n.1078A=) c.1372A= (p.Asn458=) c.305A= c.1048A= (p.Asn350=) | |
1 | g.62625313A>C | CA340616737 | DOCK7 | c.1077T>G (n.1077T>G) c.1371T>G (p.Cys457Trp) c.304T>G c.1047T>G (p.Cys349Trp) | |
1 | g.62625313A>G | CA418005954 | DOCK7 | c.1077T>C (n.1077T>C) c.1371T>C (p.Cys457=) c.304T>C c.1047T>C (p.Cys349=) | |
1 | g.62625313A>T | CA340616741 | DOCK7 | c.1077T>A (n.1077T>A) c.1371T>A (p.Cys457Ter) c.304T>A c.1047T>A (p.Cys349Ter) | |
1 | g.62625314C>A | CA340616748 | DOCK7 | c.1076G>T (n.1076G>T) c.1370G>T (p.Cys457Phe) c.303G>T c.1046G>T (p.Cys349Phe) | |
1 | g.62625314C= | CA1171157845 | DOCK7 | c.1076G= (n.1076G=) c.1370G= (p.Cys457=) c.303G= c.1046G= (p.Cys349=) | |
1 | g.62625314C>G | CA340616750 | DOCK7 | c.1076G>C (n.1076G>C) c.1370G>C (p.Cys457Ser) c.303G>C c.1046G>C (p.Cys349Ser) | |
1 | g.62625314C>T | CA340616758 | DOCK7 | c.1076G>A (n.1076G>A) c.1370G>A (p.Cys457Tyr) c.303G>A c.1046G>A (p.Cys349Tyr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.62625315A= | CA1171157846 | DOCK7 | c.1075T= (n.1075T=) c.1369T= (p.Cys457=) c.302T= c.1045T= (p.Cys349=) | |
1 | g.62625315A>C | CA340616760 | DOCK7 | c.1075T>G (n.1075T>G) c.1369T>G (p.Cys457Gly) c.302T>G c.1045T>G (p.Cys349Gly) | |
1 | g.62625315A>G | CA23773347 | DOCK7 | c.1075T>C (n.1075T>C) c.1369T>C (p.Cys457Arg) c.302T>C c.1045T>C (p.Cys349Arg) | dbSNP |
1 | g.62625315A>T | CA340616763 | DOCK7 | c.1075T>A (n.1075T>A) c.1369T>A (p.Cys457Ser) c.302T>A c.1045T>A (p.Cys349Ser) | |
1 | g.62625316A= | CA1171157847 | DOCK7 | c.1074T= (n.1074T=) c.1368T= (p.Ala456=) c.301T= c.1044T= (p.Ala348=) | |
1 | g.62625316A>C | CA418005955 | DOCK7 | c.1074T>G (n.1074T>G) c.1368T>G (p.Ala456=) c.301T>G c.1044T>G (p.Ala348=) | dbSNP |
1 | g.62625316A>G | CA418005956 | DOCK7 | c.1074T>C (n.1074T>C) c.1368T>C (p.Ala456=) c.301T>C c.1044T>C (p.Ala348=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625316A>T | CA418005957 | DOCK7 | c.1074T>A (n.1074T>A) c.1368T>A (p.Ala456=) c.301T>A c.1044T>A (p.Ala348=) | |
1 | g.62625317G>A | CA23773348 | DOCK7 | c.1073C>T (n.1073C>T) c.1367C>T (p.Ala456Val) c.300C>T c.1043C>T (p.Ala348Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625317G>C | CA340616771 | DOCK7 | c.1073C>G (n.1073C>G) c.1367C>G (p.Ala456Gly) c.300C>G c.1043C>G (p.Ala348Gly) | |
1 | g.62625317G= | CA1171157848 | DOCK7 | c.1073C= (n.1073C=) c.1367C= (p.Ala456=) c.300C= c.1043C= (p.Ala348=) | |
1 | g.62625317G>T | CA340616766 | DOCK7 | c.1073C>A (n.1073C>A) c.1367C>A (p.Ala456Asp) c.300C>A c.1043C>A (p.Ala348Asp) | |
1 | g.62625318C>A | CA340616775 | DOCK7 | c.1072G>T (n.1072G>T) c.1366G>T (p.Ala456Ser) c.299G>T c.1042G>T (p.Ala348Ser) | |
1 | g.62625318C>G | CA340616776 | DOCK7 | c.1072G>C (n.1072G>C) c.1366G>C (p.Ala456Pro) c.299G>C c.1042G>C (p.Ala348Pro) | |
1 | g.62625318C>T | CA340616778 | DOCK7 | c.1072G>A (n.1072G>A) c.1366G>A (p.Ala456Thr) c.299G>A c.1042G>A (p.Ala348Thr) | |
1 | g.62625319A= | CA1143452748 | DOCK7 | c.1071T= (n.1071T=) c.1365T= (p.Asp455=) c.298T= c.1041T= (p.Asp347=) | |
1 | g.62625319A>C | CA340616780 | DOCK7 | c.1071T>G (n.1071T>G) c.1365T>G (p.Asp455Glu) c.298T>G c.1041T>G (p.Asp347Glu) | dbSNP |
1 | g.62625319A>G | CA23773350 | DOCK7 | c.1071T>C (n.1071T>C) c.1365T>C (p.Asp455=) c.298T>C c.1041T>C (p.Asp347=) | ClinVar dbSNP |
1 | g.62625319A>T | CA340616783 | DOCK7 | c.1071T>A (n.1071T>A) c.1365T>A (p.Asp455Glu) c.298T>A c.1041T>A (p.Asp347Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625319_62625320del | CA2645999426 | DOCK7 | c.1070_1071del (n.1070_1071del) c.1364_1365del (p.Asp455GlyfsTer3) c.297_298del c.1040_1041del (p.Asp347GlyfsTer3) | gnomAD v4 |
1 | g.62625320T>A | CA340616790 | DOCK7 | c.1070A>T (n.1070A>T) c.1364A>T (p.Asp455Val) c.297A>T c.1040A>T (p.Asp347Val) | |
1 | g.62625320T>C | CA340616792 | DOCK7 | c.1070A>G (n.1070A>G) c.1364A>G (p.Asp455Gly) c.297A>G c.1040A>G (p.Asp347Gly) | gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.62625320T>G | CA340616798 | DOCK7 | c.1070A>C (n.1070A>C) c.1364A>C (p.Asp455Ala) c.297A>C c.1040A>C (p.Asp347Ala) | |
1 | g.62625321C>A | CA340616802 | DOCK7 | c.1069G>T (n.1069G>T) c.1363G>T (p.Asp455Tyr) c.296G>T c.1039G>T (p.Asp347Tyr) | |
1 | g.62625321C>G | CA340616803 | DOCK7 | c.1069G>C (n.1069G>C) c.1363G>C (p.Asp455His) c.296G>C c.1039G>C (p.Asp347His) | |
1 | g.62625321C>T | CA340616804 | DOCK7 | c.1069G>A (n.1069G>A) c.1363G>A (p.Asp455Asn) c.296G>A c.1039G>A (p.Asp347Asn) | |
1 | g.62625322A= | CA1171157849 | DOCK7 | c.1068T= (n.1068T=) c.1362T= (p.Asp454=) c.295T= c.1038T= (p.Asp346=) | |
1 | g.62625322A>C | CA340616806 | DOCK7 | c.1068T>G (n.1068T>G) c.1362T>G (p.Asp454Glu) c.295T>G c.1038T>G (p.Asp346Glu) | |
1 | g.62625322A>G | CA418005959 | DOCK7 | c.1068T>C (n.1068T>C) c.1362T>C (p.Asp454=) c.295T>C c.1038T>C (p.Asp346=) | |
1 | g.62625322A>T | CA340616805 | DOCK7 | c.1068T>A (n.1068T>A) c.1362T>A (p.Asp454Glu) c.295T>A c.1038T>A (p.Asp346Glu) | dbSNP gnomAD v2 |
1 | g.62625323T>A | CA340616807 | DOCK7 | c.1067A>T (n.1067A>T) c.1361A>T (p.Asp454Val) c.294A>T c.1037A>T (p.Asp346Val) | |
1 | g.62625323T>C | CA340616820 | DOCK7 | c.1067A>G (n.1067A>G) c.1361A>G (p.Asp454Gly) c.294A>G c.1037A>G (p.Asp346Gly) | |
1 | g.62625323T>G | CA340616823 | DOCK7 | c.1067A>C (n.1067A>C) c.1361A>C (p.Asp454Ala) c.294A>C c.1037A>C (p.Asp346Ala) | |
1 | g.62625324C>A | CA340616835 | DOCK7 | c.1066G>T (n.1066G>T) c.1360G>T (p.Asp454Tyr) c.293G>T c.1036G>T (p.Asp346Tyr) | |
1 | g.62625324C= | CA1171157850 | DOCK7 | c.1066G= (n.1066G=) c.1360G= (p.Asp454=) c.293G= c.1036G= (p.Asp346=) | |
1 | g.62625324C>G | CA340616838 | DOCK7 | c.1066G>C (n.1066G>C) c.1360G>C (p.Asp454His) c.293G>C c.1036G>C (p.Asp346His) | |
1 | g.62625324C>T | CA340616843 | DOCK7 | c.1066G>A (n.1066G>A) c.1360G>A (p.Asp454Asn) c.293G>A c.1036G>A (p.Asp346Asn) | dbSNP gnomAD v2 |
1 | g.62625325T>A | CA418005960 | DOCK7 | c.1065A>T (n.1065A>T) c.1359A>T (p.Gly453=) c.292A>T c.1035A>T (p.Gly345=) | |
1 | g.62625325T>C | CA418005961 | DOCK7 | c.1065A>G (n.1065A>G) c.1359A>G (p.Gly453=) c.292A>G c.1035A>G (p.Gly345=) | |
1 | g.62625325T>G | CA418005962 | DOCK7 | c.1065A>C (n.1065A>C) c.1359A>C (p.Gly453=) c.292A>C c.1035A>C (p.Gly345=) | |
1 | g.62625326C>A | CA340616850 | DOCK7 | c.1064G>T (n.1064G>T) c.1358G>T (p.Gly453Val) c.291G>T c.1034G>T (p.Gly345Val) | |
1 | g.62625326C>G | CA340616853 | DOCK7 | c.1064G>C (n.1064G>C) c.1358G>C (p.Gly453Ala) c.291G>C c.1034G>C (p.Gly345Ala) | |
1 | g.62625326C>T | CA340616855 | DOCK7 | c.1064G>A (n.1064G>A) c.1358G>A (p.Gly453Glu) c.291G>A c.1034G>A (p.Gly345Glu) | |
1 | g.62625327C>A | CA340616858 | DOCK7 | c.1063G>T (n.1063G>T) c.1357G>T (p.Gly453Ter) c.290G>T c.1033G>T (p.Gly345Ter) | gnomAD v4 |
1 | g.62625327C>G | CA340616861 | DOCK7 | c.1063G>C (n.1063G>C) c.1357G>C (p.Gly453Arg) c.290G>C c.1033G>C (p.Gly345Arg) | |
1 | g.62625327C>T | CA340616862 | DOCK7 | c.1063G>A (n.1063G>A) c.1357G>A (p.Gly453Arg) c.290G>A c.1033G>A (p.Gly345Arg) | |
1 | g.62625328A= | CA1171157851 | DOCK7 | c.1062T= (n.1062T=) c.1356T= (p.Ser452=) c.289T= c.1032T= (p.Ser344=) | |
1 | g.62625328A>C | CA340616864 | DOCK7 | c.1062T>G (n.1062T>G) c.1356T>G (p.Ser452Arg) c.289T>G c.1032T>G (p.Ser344Arg) | |
1 | g.62625328A>G | CA886971 | DOCK7 | c.1062T>C (n.1062T>C) c.1356T>C (p.Ser452=) c.289T>C c.1032T>C (p.Ser344=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625328A>T | CA340616863 | DOCK7 | c.1062T>A (n.1062T>A) c.1356T>A (p.Ser452Arg) c.289T>A c.1032T>A (p.Ser344Arg) | |
1 | g.62625329C>A | CA340616865 | DOCK7 | c.1061G>T (n.1061G>T) c.1355G>T (p.Ser452Ile) c.288G>T c.1031G>T (p.Ser344Ile) | |
1 | g.62625329C= | CA1171157853 | DOCK7 | c.1061G= (n.1061G=) c.1355G= (p.Ser452=) c.288G= c.1031G= (p.Ser344=) | |
1 | g.62625329C>G | CA340616867 | DOCK7 | c.1061G>C (n.1061G>C) c.1355G>C (p.Ser452Thr) c.288G>C c.1031G>C (p.Ser344Thr) | |
1 | g.62625329C>T | CA340616870 | DOCK7 | c.1061G>A (n.1061G>A) c.1355G>A (p.Ser452Asn) c.288G>A c.1031G>A (p.Ser344Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625329_62625332delinsCTTG | CA1171157852 | DOCK7 | c.1058_1061delinsCAAG (n.1058_1061delinsCAAG) c.1352_1355delinsCAAG (p.Thr451=) c.285_288delinsCAAG c.1028_1031delinsCAAG (p.Thr343=) | |
1 | g.62625330T>A | CA340616873 | DOCK7 | c.1060A>T (n.1060A>T) c.1354A>T (p.Ser452Cys) c.287A>T c.1030A>T (p.Ser344Cys) | |
1 | g.62625330T>C | CA886973 | DOCK7 | c.1060A>G (n.1060A>G) c.1354A>G (p.Ser452Gly) c.287A>G c.1030A>G (p.Ser344Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.62625330T>G | CA340616876 | DOCK7 | c.1060A>C (n.1060A>C) c.1354A>C (p.Ser452Arg) c.287A>C c.1030A>C (p.Ser344Arg) | |
1 | g.62625330T= | CA1142143640 | DOCK7 | c.1060A= (n.1060A=) c.1354A= (p.Ser452=) c.287A= c.1030A= (p.Ser344=) | |
1 | g.62625334_62625336del | CA886972 | DOCK7 | c.1058_1060del (n.1058_1060del) c.1352_1354del (p.Thr451del) c.285_287del c.1028_1030del (p.Thr343del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.62625331T>A | CA418005964 | DOCK7 | c.1059A>T (n.1059A>T) c.1353A>T (p.Thr451=) c.286A>T c.1029A>T (p.Thr343=) | |
1 | g.62625331T>C | CA886974 | DOCK7 | c.1059A>G (n.1059A>G) c.1353A>G (p.Thr451=) c.286A>G c.1029A>G (p.Thr343=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.62625331T>G | CA418005963 | DOCK7 | c.1059A>C (n.1059A>C) c.1353A>C (p.Thr451=) c.286A>C c.1029A>C (p.Thr343=) | |
1 | g.62625331T= | CA1171157854 | DOCK7 | c.1059A= (n.1059A=) c.1353A= (p.Thr451=) c.286A= c.1029A= (p.Thr343=) | |
1 | g.62625332G>A | CA886975 | DOCK7 | c.1058C>T (n.1058C>T) c.1352C>T (p.Thr451Ile) c.285C>T c.1028C>T (p.Thr343Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.62625332G>C | CA340616880 | DOCK7 | c.1058C>G (n.1058C>G) c.1352C>G (p.Thr451Arg) c.285C>G c.1028C>G (p.Thr343Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625332G= | CA1143719739 | DOCK7 | c.1058C= (n.1058C=) c.1352C= (p.Thr451=) c.285C= c.1028C= (p.Thr343=) | |
1 | g.62625332G>T | CA340616884 | DOCK7 | c.1058C>A (n.1058C>A) c.1352C>A (p.Thr451Lys) c.285C>A c.1028C>A (p.Thr343Lys) | |
1 | g.62625332_62625333insAAAGGACAACAAGTGGAGA | CA2830537790 | DOCK7 | c.1057_1058insTCTCCACTTGTTGTCCTTT (n.1057_1058insTCTCCACTTGTTGTCCTTT) c.1351_1352insTCTCCACTTGTTGTCCTTT (p.Thr451IlefsTer11) c.284_285insTCTCCACTTGTTGTCCTTT c.1027_1028insTCTCCACTTGTTGTCCTTT (p.Thr343IlefsTer11) | |
1 | g.62625333T>A | CA23773366 | DOCK7 | c.1057A>T (n.1057A>T) c.1351A>T (p.Thr451Ser) c.284A>T c.1027A>T (p.Thr343Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625333T>C | CA340616889 | DOCK7 | c.1057A>G (n.1057A>G) c.1351A>G (p.Thr451Ala) c.284A>G c.1027A>G (p.Thr343Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625333T>G | CA340616891 | DOCK7 | c.1057A>C (n.1057A>C) c.1351A>C (p.Thr451Pro) c.284A>C c.1027A>C (p.Thr343Pro) | |
1 | g.62625333T= | CA1142078105 | DOCK7 | c.1057A= (n.1057A=) c.1351A= (p.Thr451=) c.284A= c.1027A= (p.Thr343=) | |
1 | g.62625334T>A | CA418005965 | DOCK7 | c.1056A>T (n.1056A>T) c.1350A>T (p.Thr450=) c.283A>T c.1026A>T (p.Thr342=) | |
1 | g.62625334T>C | CA418005967 | DOCK7 | c.1056A>G (n.1056A>G) c.1350A>G (p.Thr450=) c.283A>G c.1026A>G (p.Thr342=) | |
1 | g.62625334T>G | CA418005966 | DOCK7 | c.1056A>C (n.1056A>C) c.1350A>C (p.Thr450=) c.283A>C c.1026A>C (p.Thr342=) | gnomAD v4 |
1 | g.62625335G>A | CA340616900 | DOCK7 | c.1055C>T (n.1055C>T) c.1349C>T (p.Thr450Ile) c.282C>T c.1025C>T (p.Thr342Ile) | |
1 | g.62625335G>C | CA340616910 | DOCK7 | c.1055C>G (n.1055C>G) c.1349C>G (p.Thr450Arg) c.282C>G c.1025C>G (p.Thr342Arg) | |
1 | g.62625335G>T | CA340616906 | DOCK7 | c.1055C>A (n.1055C>A) c.1349C>A (p.Thr450Lys) c.282C>A c.1025C>A (p.Thr342Lys) | |
1 | g.62625336T>A | CA340616912 | DOCK7 | c.1054A>T (n.1054A>T) c.1348A>T (p.Thr450Ser) c.281A>T c.1024A>T (p.Thr342Ser) | |
1 | g.62625336T>C | CA340616914 | DOCK7 | c.1054A>G (n.1054A>G) c.1348A>G (p.Thr450Ala) c.281A>G c.1024A>G (p.Thr342Ala) | |
1 | g.62625336T>G | CA23773367 | DOCK7 | c.1054A>C (n.1054A>C) c.1348A>C (p.Thr450Pro) c.281A>C c.1024A>C (p.Thr342Pro) | dbSNP |
1 | g.62625336T= | CA1143998402 | DOCK7 | c.1054A= (n.1054A=) c.1348A= (p.Thr450=) c.281A= c.1024A= (p.Thr342=) | |
1 | g.62625337C>A | CA340616917 | DOCK7 | c.1053G>T (n.1053G>T) c.1347G>T (p.Arg449Ser) c.280G>T c.1023G>T (p.Arg341Ser) | |
1 | g.62625337C= | CA1171157855 | DOCK7 | c.1053G= (n.1053G=) c.1347G= (p.Arg449=) c.280G= c.1023G= (p.Arg341=) | |
1 | g.62625337C>G | CA340616922 | DOCK7 | c.1053G>C (n.1053G>C) c.1347G>C (p.Arg449Ser) c.280G>C c.1023G>C (p.Arg341Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625337C>T | CA418005968 | DOCK7 | c.1053G>A (n.1053G>A) c.1347G>A (p.Arg449=) c.280G>A c.1023G>A (p.Arg341=) | |
1 | g.62625338C>A | CA340616930 | DOCK7 | c.1052G>T (n.1052G>T) c.1346G>T (p.Arg449Met) c.279G>T c.1022G>T (p.Arg341Met) | |
1 | g.62625338C= | CA1171157856 | DOCK7 | c.1052G= (n.1052G=) c.1346G= (p.Arg449=) c.279G= c.1022G= (p.Arg341=) | |
1 | g.62625338C>G | CA23773375 | DOCK7 | c.1052G>C (n.1052G>C) c.1346G>C (p.Arg449Thr) c.279G>C c.1022G>C (p.Arg341Thr) | dbSNP gnomAD v4 |
1 | g.62625338C>T | CA340616933 | DOCK7 | c.1052G>A (n.1052G>A) c.1346G>A (p.Arg449Lys) c.279G>A c.1022G>A (p.Arg341Lys) | |
1 | g.62625339T>A | CA340616937 | DOCK7 | c.1051A>T (n.1051A>T) c.1345A>T (p.Arg449Trp) c.278A>T c.1021A>T (p.Arg341Trp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.62625339T>C | CA340616940 | DOCK7 | c.1051A>G (n.1051A>G) c.1345A>G (p.Arg449Gly) c.278A>G c.1021A>G (p.Arg341Gly) | gnomAD v4 |
1 | g.62625339T>G | CA418005969 | DOCK7 | c.1051A>C (n.1051A>C) c.1345A>C (p.Arg449=) c.278A>C c.1021A>C (p.Arg341=) | |
1 | g.62625339T= | CA1171157857 | DOCK7 | c.1051A= (n.1051A=) c.1345A= (p.Arg449=) c.278A= c.1021A= (p.Arg341=) | |
1 | g.62625340T>A | CA340616947 | DOCK7 | c.1050A>T (n.1050A>T) c.1344A>T (p.Glu448Asp) c.277A>T c.1020A>T (p.Glu340Asp) | |
1 | g.62625340T>C | CA418005970 | DOCK7 | c.1050A>G (n.1050A>G) c.1344A>G (p.Glu448=) c.277A>G c.1020A>G (p.Glu340=) | ClinVar |
1 | g.62625340T>G | CA340616951 | DOCK7 | c.1050A>C (n.1050A>C) c.1344A>C (p.Glu448Asp) c.277A>C c.1020A>C (p.Glu340Asp) | |
1 | g.62625341T>A | CA340616954 | DOCK7 | c.1049A>T (n.1049A>T) c.1343A>T (p.Glu448Val) c.276A>T c.1019A>T (p.Glu340Val) | |
1 | g.62625341T>C | CA340616961 | DOCK7 | c.1049A>G (n.1049A>G) c.1343A>G (p.Glu448Gly) c.276A>G c.1019A>G (p.Glu340Gly) | |
1 | g.62625341T>G | CA340616959 | DOCK7 | c.1049A>C (n.1049A>C) c.1343A>C (p.Glu448Ala) c.276A>C c.1019A>C (p.Glu340Ala) | |
1 | g.62625342C>A | CA340616964 | DOCK7 | c.1048G>T (n.1048G>T) c.1342G>T (p.Glu448Ter) c.275G>T c.1018G>T (p.Glu340Ter) | |
1 | g.62625342C>G | CA340616966 | DOCK7 | c.1048G>C (n.1048G>C) c.1342G>C (p.Glu448Gln) c.275G>C c.1018G>C (p.Glu340Gln) | |
1 | g.62625342C>T | CA340616974 | DOCK7 | c.1048G>A (n.1048G>A) c.1342G>A (p.Glu448Lys) c.275G>A c.1018G>A (p.Glu340Lys) | gnomAD v4 |
1 | g.62625343A>C | CA418005972 | DOCK7 | c.1047T>G (n.1047T>G) c.1341T>G (p.Leu447=) c.274T>G c.1017T>G (p.Leu339=) | |
1 | g.62625343A>G | CA418005973 | DOCK7 | c.1047T>C (n.1047T>C) c.1341T>C (p.Leu447=) c.274T>C c.1017T>C (p.Leu339=) | |
1 | g.62625343A>T | CA418005974 | DOCK7 | c.1047T>A (n.1047T>A) c.1341T>A (p.Leu447=) c.274T>A c.1017T>A (p.Leu339=) | |
1 | g.62625344A= | CA1171157858 | DOCK7 | c.1046T= (n.1046T=) c.1340T= (p.Leu447=) c.273T= c.1016T= (p.Leu339=) | |
1 | g.62625344A>C | CA340616979 | DOCK7 | c.1046T>G (n.1046T>G) c.1340T>G (p.Leu447Arg) c.273T>G c.1016T>G (p.Leu339Arg) | |
1 | g.62625344A>G | CA340616983 | DOCK7 | c.1046T>C (n.1046T>C) c.1340T>C (p.Leu447Pro) c.273T>C c.1016T>C (p.Leu339Pro) | dbSNP |
1 | g.62625344A>T | CA340616984 | DOCK7 | c.1046T>A (n.1046T>A) c.1340T>A (p.Leu447His) c.273T>A c.1016T>A (p.Leu339His) | |
1 | g.62625345G>A | CA340616986 | DOCK7 | c.1045C>T (n.1045C>T) c.1339C>T (p.Leu447Phe) c.272C>T c.1015C>T (p.Leu339Phe) | COSMIC COSMIC COSMIC |
1 | g.62625345G>C | CA340616988 | DOCK7 | c.1045C>G (n.1045C>G) c.1339C>G (p.Leu447Val) c.272C>G c.1015C>G (p.Leu339Val) | gnomAD v4 |
1 | g.62625345G>T | CA340616989 | DOCK7 | c.1045C>A (n.1045C>A) c.1339C>A (p.Leu447Ile) c.272C>A c.1015C>A (p.Leu339Ile) | |
1 | g.62625346T>A | CA418005975 | DOCK7 | c.1044A>T (n.1044A>T) c.1338A>T (p.Ser446=) c.271A>T c.1014A>T (p.Ser338=) | |
1 | g.62625346T>C | CA418005976 | DOCK7 | c.1044A>G (n.1044A>G) c.1338A>G (p.Ser446=) c.271A>G c.1014A>G (p.Ser338=) | |
1 | g.62625346T>G | CA418005977 | DOCK7 | c.1044A>C (n.1044A>C) c.1338A>C (p.Ser446=) c.271A>C c.1014A>C (p.Ser338=) | |
1 | g.62625347G>A | CA340616992 | DOCK7 | c.1043C>T (n.1043C>T) c.1337C>T (p.Ser446Leu) c.270C>T c.1013C>T (p.Ser338Leu) | |
1 | g.62625347G>C | CA340617006 | DOCK7 | c.1043C>G (n.1043C>G) c.1337C>G (p.Ser446Ter) c.270C>G c.1013C>G (p.Ser338Ter) | |
1 | g.62625347G>T | CA340617008 | DOCK7 | c.1043C>A (n.1043C>A) c.1337C>A (p.Ser446Ter) c.270C>A c.1013C>A (p.Ser338Ter) | |
1 | g.62625348A= | CA1171157859 | DOCK7 | c.1042T= (n.1042T=) c.1336T= (p.Ser446=) c.269T= c.1012T= (p.Ser338=) | |
1 | g.62625348A>C | CA340617016 | DOCK7 | c.1042T>G (n.1042T>G) c.1336T>G (p.Ser446Ala) c.269T>G c.1012T>G (p.Ser338Ala) | |
1 | g.62625348A>G | CA340617015 | DOCK7 | c.1042T>C (n.1042T>C) c.1336T>C (p.Ser446Pro) c.269T>C c.1012T>C (p.Ser338Pro) | |
1 | g.62625348A>T | CA340617011 | DOCK7 | c.1042T>A (n.1042T>A) c.1336T>A (p.Ser446Thr) c.269T>A c.1012T>A (p.Ser338Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625349T>A | CA418005980 | DOCK7 | c.1041A>T (n.1041A>T) c.1335A>T (p.Arg445=) c.268A>T c.1011A>T (p.Arg337=) | |
1 | g.62625349T>C | CA418005978 | DOCK7 | c.1041A>G (n.1041A>G) c.1335A>G (p.Arg445=) c.268A>G c.1011A>G (p.Arg337=) | |
1 | g.62625349T>G | CA418005979 | DOCK7 | c.1041A>C (n.1041A>C) c.1335A>C (p.Arg445=) c.268A>C c.1011A>C (p.Arg337=) | |
1 | g.62625350C>A | CA340617019 | DOCK7 | c.1040G>T (n.1040G>T) c.1334G>T (p.Arg445Leu) c.267G>T c.1010G>T (p.Arg337Leu) | |
1 | g.62625350C= | CA1171157860 | DOCK7 | c.1040G= (n.1040G=) c.1334G= (p.Arg445=) c.267G= c.1010G= (p.Arg337=) | |
1 | g.62625350C>G | CA340617022 | DOCK7 | c.1040G>C (n.1040G>C) c.1334G>C (p.Arg445Pro) c.267G>C c.1010G>C (p.Arg337Pro) | |
1 | g.62625350C>T | CA340617028 | DOCK7 | c.1040G>A (n.1040G>A) c.1334G>A (p.Arg445Gln) c.267G>A c.1010G>A (p.Arg337Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.62625351G>A | CA886976 | DOCK7 | c.1039C>T (n.1039C>T) c.1333C>T (p.Arg445Ter) c.266C>T c.1009C>T (p.Arg337Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.62625351G>C | CA340617036 | DOCK7 | c.1039C>G (n.1039C>G) c.1333C>G (p.Arg445Gly) c.266C>G c.1009C>G (p.Arg337Gly) | |
1 | g.62625351G= | CA1171157861 | DOCK7 | c.1039C= (n.1039C=) c.1333C= (p.Arg445=) c.266C= c.1009C= (p.Arg337=) | |
1 | g.62625351G>T | CA418005981 | DOCK7 | c.1039C>A (n.1039C>A) c.1333C>A (p.Arg445=) c.266C>A c.1009C>A (p.Arg337=) | |
1 | g.62625352T>A | CA340617041 | DOCK7 | c.1038A>T (n.1038A>T) c.1332A>T (p.Arg444Ser) c.265A>T c.1008A>T (p.Arg336Ser) | |
1 | g.62625352T>C | CA418005982 | DOCK7 | c.1038A>G (n.1038A>G) c.1332A>G (p.Arg444=) c.265A>G c.1008A>G (p.Arg336=) | ClinVar gnomAD v4 |
1 | g.62625352T>G | CA340617046 | DOCK7 | c.1038A>C (n.1038A>C) c.1332A>C (p.Arg444Ser) c.265A>C c.1008A>C (p.Arg336Ser) | |
1 | g.62625353C>A | CA340617050 | DOCK7 | c.1037G>T (n.1037G>T) c.1331G>T (p.Arg444Ile) c.264G>T c.1007G>T (p.Arg336Ile) | |
1 | g.62625353C>G | CA340617063 | DOCK7 | c.1037G>C (n.1037G>C) c.1331G>C (p.Arg444Thr) c.264G>C c.1007G>C (p.Arg336Thr) | gnomAD v4 |
1 | g.62625353C>T | CA340617065 | DOCK7 | c.1037G>A (n.1037G>A) c.1331G>A (p.Arg444Lys) c.264G>A c.1007G>A (p.Arg336Lys) | |
1 | g.62625354T>A | CA340617067 | DOCK7 | c.1036A>T (n.1036A>T) c.1330A>T (p.Arg444Ter) c.263A>T c.1006A>T (p.Arg336Ter) | |
1 | g.62625354T>C | CA340617069 | DOCK7 | c.1036A>G (n.1036A>G) c.1330A>G (p.Arg444Gly) c.263A>G c.1006A>G (p.Arg336Gly) | |
1 | g.62625354T>G | CA418005983 | DOCK7 | c.1036A>C (n.1036A>C) c.1330A>C (p.Arg444=) c.263A>C c.1006A>C (p.Arg336=) | |
1 | g.62625355G>A | CA418005984 | DOCK7 | c.1035C>T (n.1035C>T) c.1329C>T (p.Gly443=) c.262C>T c.1005C>T (p.Gly335=) | gnomAD v4 |
1 | g.62625355G>C | CA23773386 | DOCK7 | c.1035C>G (n.1035C>G) c.1329C>G (p.Gly443=) c.262C>G c.1005C>G (p.Gly335=) | dbSNP |
1 | g.62625355G= | CA1171157862 | DOCK7 | c.1035C= (n.1035C=) c.1329C= (p.Gly443=) c.262C= c.1005C= (p.Gly335=) | |
1 | g.62625355G>T | CA418005985 | DOCK7 | c.1035C>A (n.1035C>A) c.1329C>A (p.Gly443=) c.262C>A c.1005C>A (p.Gly335=) | |
1 | g.62625356C>A | CA340617076 | DOCK7 | c.1034G>T (n.1034G>T) c.1328G>T (p.Gly443Val) c.261G>T c.1004G>T (p.Gly335Val) | ClinVar dbSNP gnomAD v4 |
1 | g.62625356C= | CA1171157863 | DOCK7 | c.1034G= (n.1034G=) c.1328G= (p.Gly443=) c.261G= c.1004G= (p.Gly335=) | |
1 | g.62625356C>G | CA340617073 | DOCK7 | c.1034G>C (n.1034G>C) c.1328G>C (p.Gly443Ala) c.261G>C c.1004G>C (p.Gly335Ala) | |
1 | g.62625356C>T | CA340617071 | DOCK7 | c.1034G>A (n.1034G>A) c.1328G>A (p.Gly443Asp) c.261G>A c.1004G>A (p.Gly335Asp) |