Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71435492G>A | CA475566061 | DHCR7 | c.1311C>T (p.Ala437=) c.1137C>T (p.Ala379=) c.1362C>T (p.Ala454=) c.1347C>T (p.Ala449=) c.*74C>T (n.*74C>T) n.1351C>T c.726C>T (p.Ala242=) c.1215C>T (p.Ala405=) c.812C>T (n.812C>T) c.561C>T (p.Ala187=) c.319+2320C>T | |
11 | g.71435492G>C | CA475566063 | DHCR7 | c.1311C>G (p.Ala437=) c.1137C>G (p.Ala379=) c.1362C>G (p.Ala454=) c.1347C>G (p.Ala449=) c.*74C>G (n.*74C>G) n.1351C>G c.726C>G (p.Ala242=) c.1215C>G (p.Ala405=) c.812C>G (n.812C>G) c.561C>G (p.Ala187=) c.319+2320C>G | |
11 | g.71435492G>T | CA475566065 | DHCR7 | c.1311C>A (p.Ala437=) c.1137C>A (p.Ala379=) c.1362C>A (p.Ala454=) c.1347C>A (p.Ala449=) c.*74C>A (n.*74C>A) n.1351C>A c.726C>A (p.Ala242=) c.1215C>A (p.Ala405=) c.812C>A (n.812C>A) c.561C>A (p.Ala187=) c.319+2320C>A | gnomAD v4 |
11 | g.71435493G>A | CA381700908 | DHCR7 | c.1310C>T (p.Ala437Val) c.1136C>T (p.Ala379Val) c.1361C>T (p.Ala454Val) c.1346C>T (p.Ala449Val) c.*73C>T (n.*73C>T) n.1350C>T c.725C>T (p.Ala242Val) c.1214C>T (p.Ala405Val) c.811C>T (n.811C>T) c.560C>T (p.Ala187Val) c.319+2319C>T | gnomAD v4 |
11 | g.71435493G>C | CA381700911 | DHCR7 | c.1310C>G (p.Ala437Gly) c.1136C>G (p.Ala379Gly) c.1361C>G (p.Ala454Gly) c.1346C>G (p.Ala449Gly) c.*73C>G (n.*73C>G) n.1350C>G c.725C>G (p.Ala242Gly) c.1214C>G (p.Ala405Gly) c.811C>G (n.811C>G) c.560C>G (p.Ala187Gly) c.319+2319C>G | |
11 | g.71435493G>T | CA381700913 | DHCR7 | c.1310C>A (p.Ala437Asp) c.1136C>A (p.Ala379Asp) c.1361C>A (p.Ala454Asp) c.1346C>A (p.Ala449Asp) c.*73C>A (n.*73C>A) n.1350C>A c.725C>A (p.Ala242Asp) c.1214C>A (p.Ala405Asp) c.811C>A (n.811C>A) c.560C>A (p.Ala187Asp) c.319+2319C>A | |
11 | g.71435494C>A | CA381700917 | DHCR7 | c.1309G>T (p.Ala437Ser) c.1135G>T (p.Ala379Ser) c.1360G>T (p.Ala454Ser) c.1345G>T (p.Ala449Ser) c.*72G>T (n.*72G>T) n.1349G>T c.724G>T (p.Ala242Ser) c.1213G>T (p.Ala405Ser) c.810G>T (n.810G>T) c.559G>T (p.Ala187Ser) c.319+2318G>T | |
11 | g.71435494C= | CA1981486847 | DHCR7 | c.1309G= (p.Ala437=) c.1135G= (p.Ala379=) c.1360G= (p.Ala454=) c.1345G= (p.Ala449=) c.*72G= (n.*72G=) n.1349G= c.724G= (p.Ala242=) c.1213G= (p.Ala405=) c.810G= (n.810G=) c.559G= (p.Ala187=) c.319+2318G= | |
11 | g.71435494C>G | CA381700919 | DHCR7 | c.1309G>C (p.Ala437Pro) c.1135G>C (p.Ala379Pro) c.1360G>C (p.Ala454Pro) c.1345G>C (p.Ala449Pro) c.*72G>C (n.*72G>C) n.1349G>C c.724G>C (p.Ala242Pro) c.1213G>C (p.Ala405Pro) c.810G>C (n.810G>C) c.559G>C (p.Ala187Pro) c.319+2318G>C | |
11 | g.71435494C>T | CA381700921 | DHCR7 | c.1309G>A (p.Ala437Thr) c.1135G>A (p.Ala379Thr) c.1360G>A (p.Ala454Thr) c.1345G>A (p.Ala449Thr) c.*72G>A (n.*72G>A) n.1349G>A c.724G>A (p.Ala242Thr) c.1213G>A (p.Ala405Thr) c.810G>A (n.810G>A) c.559G>A (p.Ala187Thr) c.319+2318G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435495C>A | CA381700927 | DHCR7 | c.1308G>T (p.Met436Ile) c.1134G>T (p.Met378Ile) c.1359G>T (p.Met453Ile) c.1344G>T (p.Met448Ile) c.*71G>T (n.*71G>T) n.1348G>T c.723G>T (p.Met241Ile) c.1212G>T (p.Met404Ile) c.809G>T (n.809G>T) c.558G>T (p.Met186Ile) c.319+2317G>T | |
11 | g.71435495C>G | CA381700930 | DHCR7 | c.1308G>C (p.Met436Ile) c.1134G>C (p.Met378Ile) c.1359G>C (p.Met453Ile) c.1344G>C (p.Met448Ile) c.*71G>C (n.*71G>C) n.1348G>C c.723G>C (p.Met241Ile) c.1212G>C (p.Met404Ile) c.809G>C (n.809G>C) c.558G>C (p.Met186Ile) c.319+2317G>C | |
11 | g.71435495C>T | CA381700925 | DHCR7 | c.1308G>A (p.Met436Ile) c.1134G>A (p.Met378Ile) c.1359G>A (p.Met453Ile) c.1344G>A (p.Met448Ile) c.*71G>A (n.*71G>A) n.1348G>A c.723G>A (p.Met241Ile) c.1212G>A (p.Met404Ile) c.809G>A (n.809G>A) c.558G>A (p.Met186Ile) c.319+2317G>A | |
11 | g.71435495_71435501delinsCATGTAG | CA1981486848 | DHCR7 | c.1302_1308delinsCTACATG (p.Ile434=) c.1128_1134delinsCTACATG (p.Ile376=) c.1353_1359delinsCTACATG (p.Ile451=) c.1338_1344delinsCTACATG (p.Ile446=) c.*65_*71delinsCTACATG (n.*65_*71delinsCTACATG) n.1342_1348delinsCTACATG c.717_723delinsCTACATG (p.Ile239=) c.1206_1212delinsCTACATG (p.Ile402=) c.803_809delinsCTACATG (n.803_809delinsCTACATG) c.552_558delinsCTACATG (p.Ile184=) c.319+2311_319+2317delinsCTACATG | |
11 | g.71435495_71435510delinsCATGTAGATGATGTAG | CA1981486849 | DHCR7 | c.1293_1308delinsCTACATCATCTACATG (p.Phe431=) c.1119_1134delinsCTACATCATCTACATG (p.Phe373=) c.1344_1359delinsCTACATCATCTACATG (p.Phe448=) c.1329_1344delinsCTACATCATCTACATG (p.Phe443=) c.*56_*71delinsCTACATCATCTACATG (n.*56_*71delinsCTACATCATCTACATG) n.1333_1348delinsCTACATCATCTACATG c.708_723delinsCTACATCATCTACATG (p.Phe236=) c.1197_1212delinsCTACATCATCTACATG (p.Phe399=) c.794_809delinsCTACATCATCTACATG (n.794_809delinsCTACATCATCTACATG) c.543_558delinsCTACATCATCTACATG (p.Phe181=) c.319+2302_319+2317delinsCTACATCATCTACATG | |
11 | g.71435496A= | CA1981486850 | DHCR7 | c.1307T= (p.Met436=) c.1133T= (p.Met378=) c.1358T= (p.Met453=) c.1343T= (p.Met448=) c.*70T= (n.*70T=) n.1347T= c.722T= (p.Met241=) c.1211T= (p.Met404=) c.808T= (n.808T=) c.557T= (p.Met186=) c.319+2316T= | |
11 | g.71435496A>C | CA381700931 | DHCR7 | c.1307T>G (p.Met436Arg) c.1133T>G (p.Met378Arg) c.1358T>G (p.Met453Arg) c.1343T>G (p.Met448Arg) c.*70T>G (n.*70T>G) n.1347T>G c.722T>G (p.Met241Arg) c.1211T>G (p.Met404Arg) c.808T>G (n.808T>G) c.557T>G (p.Met186Arg) c.319+2316T>G | |
11 | g.71435496A>G | CA381700933 | DHCR7 | c.1307T>C (p.Met436Thr) c.1133T>C (p.Met378Thr) c.1358T>C (p.Met453Thr) c.1343T>C (p.Met448Thr) c.*70T>C (n.*70T>C) n.1347T>C c.722T>C (p.Met241Thr) c.1211T>C (p.Met404Thr) c.808T>C (n.808T>C) c.557T>C (p.Met186Thr) c.319+2316T>C | dbSNP |
11 | g.71435496A>T | CA381700936 | DHCR7 | c.1307T>A (p.Met436Lys) c.1133T>A (p.Met378Lys) c.1358T>A (p.Met453Lys) c.1343T>A (p.Met448Lys) c.*70T>A (n.*70T>A) n.1347T>A c.722T>A (p.Met241Lys) c.1211T>A (p.Met404Lys) c.808T>A (n.808T>A) c.557T>A (p.Met186Lys) c.319+2316T>A | |
11 | g.71435499_71435504del | CA679810496 | DHCR7 | c.1302_1307del (p.Ile434_Tyr435del) c.1128_1133del (p.Ile376_Tyr377del) c.1353_1358del (p.Ile451_Tyr452del) c.1338_1343del (p.Ile446_Tyr447del) c.*65_*70del (n.*65_*70del) n.1342_1347del c.717_722del (p.Ile239_Tyr240del) c.1206_1211del (p.Ile402_Tyr403del) c.803_808del (n.803_808del) c.552_557del (p.Ile184_Tyr185del) c.319+2311_319+2316del | dbSNP |
11 | g.71435497_71435511del | CA679810499 | DHCR7 | c.1293_1307del (p.Phe431_Met436delinsLeu) c.1119_1133del (p.Phe373_Met378delinsLeu) c.1344_1358del (p.Phe448_Met453delinsLeu) c.1329_1343del (p.Phe443_Met448delinsLeu) c.*56_*70del (n.*56_*70del) n.1333_1347del c.708_722del (p.Phe236_Met241delinsLeu) c.1197_1211del (p.Phe399_Met404delinsLeu) c.794_808del (n.794_808del) c.543_557del (p.Phe181_Met186delinsLeu) c.319+2302_319+2316del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435497T>A | CA381700939 | DHCR7 | c.1306A>T (p.Met436Leu) c.1132A>T (p.Met378Leu) c.1357A>T (p.Met453Leu) c.1342A>T (p.Met448Leu) c.*69A>T (n.*69A>T) n.1346A>T c.721A>T (p.Met241Leu) c.1210A>T (p.Met404Leu) c.807A>T (n.807A>T) c.556A>T (p.Met186Leu) c.319+2315A>T | |
11 | g.71435497T>C | CA381700941 | DHCR7 | c.1306A>G (p.Met436Val) c.1132A>G (p.Met378Val) c.1357A>G (p.Met453Val) c.1342A>G (p.Met448Val) c.*69A>G (n.*69A>G) n.1346A>G c.721A>G (p.Met241Val) c.1210A>G (p.Met404Val) c.807A>G (n.807A>G) c.556A>G (p.Met186Val) c.319+2315A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435497T>G | CA381700949 | DHCR7 | c.1306A>C (p.Met436Leu) c.1132A>C (p.Met378Leu) c.1357A>C (p.Met453Leu) c.1342A>C (p.Met448Leu) c.*69A>C (n.*69A>C) n.1346A>C c.721A>C (p.Met241Leu) c.1210A>C (p.Met404Leu) c.807A>C (n.807A>C) c.556A>C (p.Met186Leu) c.319+2315A>C | |
11 | g.71435497T= | CA1981486851 | DHCR7 | c.1306A= (p.Met436=) c.1132A= (p.Met378=) c.1357A= (p.Met453=) c.1342A= (p.Met448=) c.*69A= (n.*69A=) n.1346A= c.721A= (p.Met241=) c.1210A= (p.Met404=) c.807A= (n.807A=) c.556A= (p.Met186=) c.319+2315A= | |
11 | g.71435498G>A | CA475860931 | DHCR7 | c.1305C>T (p.Tyr435=) c.1131C>T (p.Tyr377=) c.1356C>T (p.Tyr452=) c.1341C>T (p.Tyr447=) c.*68C>T (n.*68C>T) n.1345C>T c.720C>T (p.Tyr240=) c.1209C>T (p.Tyr403=) c.806C>T (n.806C>T) c.555C>T (p.Tyr185=) c.319+2314C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71435498G>C | CA381700952 | DHCR7 | c.1305C>G (p.Tyr435Ter) c.1131C>G (p.Tyr377Ter) c.1356C>G (p.Tyr452Ter) c.1341C>G (p.Tyr447Ter) c.*68C>G (n.*68C>G) n.1345C>G c.720C>G (p.Tyr240Ter) c.1209C>G (p.Tyr403Ter) c.806C>G (n.806C>G) c.555C>G (p.Tyr185Ter) c.319+2314C>G | |
11 | g.71435498G>T | CA381700955 | DHCR7 | c.1305C>A (p.Tyr435Ter) c.1131C>A (p.Tyr377Ter) c.1356C>A (p.Tyr452Ter) c.1341C>A (p.Tyr447Ter) c.*68C>A (n.*68C>A) n.1345C>A c.720C>A (p.Tyr240Ter) c.1209C>A (p.Tyr403Ter) c.806C>A (n.806C>A) c.555C>A (p.Tyr185Ter) c.319+2314C>A | |
11 | g.71435499T>A | CA381700958 | DHCR7 | c.1304A>T (p.Tyr435Phe) c.1130A>T (p.Tyr377Phe) c.1355A>T (p.Tyr452Phe) c.1340A>T (p.Tyr447Phe) c.*67A>T (n.*67A>T) n.1344A>T c.719A>T (p.Tyr240Phe) c.1208A>T (p.Tyr403Phe) c.805A>T (n.805A>T) c.554A>T (p.Tyr185Phe) c.319+2313A>T | |
11 | g.71435499T>C | CA381700959 | DHCR7 | c.1304A>G (p.Tyr435Cys) c.1130A>G (p.Tyr377Cys) c.1355A>G (p.Tyr452Cys) c.1340A>G (p.Tyr447Cys) c.*67A>G (n.*67A>G) n.1344A>G c.719A>G (p.Tyr240Cys) c.1208A>G (p.Tyr403Cys) c.805A>G (n.805A>G) c.554A>G (p.Tyr185Cys) c.319+2313A>G | |
11 | g.71435499T>G | CA381700962 | DHCR7 | c.1304A>C (p.Tyr435Ser) c.1130A>C (p.Tyr377Ser) c.1355A>C (p.Tyr452Ser) c.1340A>C (p.Tyr447Ser) c.*67A>C (n.*67A>C) n.1344A>C c.719A>C (p.Tyr240Ser) c.1208A>C (p.Tyr403Ser) c.805A>C (n.805A>C) c.554A>C (p.Tyr185Ser) c.319+2313A>C | |
11 | g.71435500A>C | CA381700964 | DHCR7 | c.1303T>G (p.Tyr435Asp) c.1129T>G (p.Tyr377Asp) c.1354T>G (p.Tyr452Asp) c.1339T>G (p.Tyr447Asp) c.*66T>G (n.*66T>G) n.1343T>G c.718T>G (p.Tyr240Asp) c.1207T>G (p.Tyr403Asp) c.804T>G (n.804T>G) c.553T>G (p.Tyr185Asp) c.319+2312T>G | |
11 | g.71435500A>G | CA381700973 | DHCR7 | c.1303T>C (p.Tyr435His) c.1129T>C (p.Tyr377His) c.1354T>C (p.Tyr452His) c.1339T>C (p.Tyr447His) c.*66T>C (n.*66T>C) n.1343T>C c.718T>C (p.Tyr240His) c.1207T>C (p.Tyr403His) c.804T>C (n.804T>C) c.553T>C (p.Tyr185His) c.319+2312T>C | |
11 | g.71435500A>T | CA381700963 | DHCR7 | c.1303T>A (p.Tyr435Asn) c.1129T>A (p.Tyr377Asn) c.1354T>A (p.Tyr452Asn) c.1339T>A (p.Tyr447Asn) c.*66T>A (n.*66T>A) n.1343T>A c.718T>A (p.Tyr240Asn) c.1207T>A (p.Tyr403Asn) c.804T>A (n.804T>A) c.553T>A (p.Tyr185Asn) c.319+2312T>A | |
11 | g.71435501G>A | CA475860932 | DHCR7 | c.1302C>T (p.Ile434=) c.1128C>T (p.Ile376=) c.1353C>T (p.Ile451=) c.1338C>T (p.Ile446=) c.*65C>T (n.*65C>T) n.1342C>T c.717C>T (p.Ile239=) c.1206C>T (p.Ile402=) c.803C>T (n.803C>T) c.552C>T (p.Ile184=) c.319+2311C>T | dbSNP gnomAD v4 |
11 | g.71435501G>C | CA381700977 | DHCR7 | c.1302C>G (p.Ile434Met) c.1128C>G (p.Ile376Met) c.1353C>G (p.Ile451Met) c.1338C>G (p.Ile446Met) c.*65C>G (n.*65C>G) n.1342C>G c.717C>G (p.Ile239Met) c.1206C>G (p.Ile402Met) c.803C>G (n.803C>G) c.552C>G (p.Ile184Met) c.319+2311C>G | gnomAD v4 |
11 | g.71435501G= | CA1981486852 | DHCR7 | c.1302C= (p.Ile434=) c.1128C= (p.Ile376=) c.1353C= (p.Ile451=) c.1338C= (p.Ile446=) c.*65C= (n.*65C=) n.1342C= c.717C= (p.Ile239=) c.1206C= (p.Ile402=) c.803C= (n.803C=) c.552C= (p.Ile184=) c.319+2311C= | |
11 | g.71435501G>T | CA475860933 | DHCR7 | c.1302C>A (p.Ile434=) c.1128C>A (p.Ile376=) c.1353C>A (p.Ile451=) c.1338C>A (p.Ile446=) c.*65C>A (n.*65C>A) n.1342C>A c.717C>A (p.Ile239=) c.1206C>A (p.Ile402=) c.803C>A (n.803C>A) c.552C>A (p.Ile184=) c.319+2311C>A | gnomAD v4 |
11 | g.71435502A>C | CA381700980 | DHCR7 | c.1301T>G (p.Ile434Ser) c.1127T>G (p.Ile376Ser) c.1352T>G (p.Ile451Ser) c.1337T>G (p.Ile446Ser) c.*64T>G (n.*64T>G) n.1341T>G c.716T>G (p.Ile239Ser) c.1205T>G (p.Ile402Ser) c.802T>G (n.802T>G) c.551T>G (p.Ile184Ser) c.319+2310T>G | |
11 | g.71435502A>G | CA381700981 | DHCR7 | c.1301T>C (p.Ile434Thr) c.1127T>C (p.Ile376Thr) c.1352T>C (p.Ile451Thr) c.1337T>C (p.Ile446Thr) c.*64T>C (n.*64T>C) n.1341T>C c.716T>C (p.Ile239Thr) c.1205T>C (p.Ile402Thr) c.802T>C (n.802T>C) c.551T>C (p.Ile184Thr) c.319+2310T>C | |
11 | g.71435502A>T | CA381700983 | DHCR7 | c.1301T>A (p.Ile434Asn) c.1127T>A (p.Ile376Asn) c.1352T>A (p.Ile451Asn) c.1337T>A (p.Ile446Asn) c.*64T>A (n.*64T>A) n.1341T>A c.716T>A (p.Ile239Asn) c.1205T>A (p.Ile402Asn) c.802T>A (n.802T>A) c.551T>A (p.Ile184Asn) c.319+2310T>A | |
11 | g.71435503T>A | CA381700988 | DHCR7 | c.1300A>T (p.Ile434Phe) c.1126A>T (p.Ile376Phe) c.1351A>T (p.Ile451Phe) c.1336A>T (p.Ile446Phe) c.*63A>T (n.*63A>T) n.1340A>T c.715A>T (p.Ile239Phe) c.1204A>T (p.Ile402Phe) c.801A>T (n.801A>T) c.550A>T (p.Ile184Phe) c.319+2309A>T | |
11 | g.71435503T>C | CA224324006 | DHCR7 | c.1300A>G (p.Ile434Val) c.1126A>G (p.Ile376Val) c.1351A>G (p.Ile451Val) c.1336A>G (p.Ile446Val) c.*63A>G (n.*63A>G) n.1340A>G c.715A>G (p.Ile239Val) c.1204A>G (p.Ile402Val) c.801A>G (n.801A>G) c.550A>G (p.Ile184Val) c.319+2309A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435503T>G | CA381700985 | DHCR7 | c.1300A>C (p.Ile434Leu) c.1126A>C (p.Ile376Leu) c.1351A>C (p.Ile451Leu) c.1336A>C (p.Ile446Leu) c.*63A>C (n.*63A>C) n.1340A>C c.715A>C (p.Ile239Leu) c.1204A>C (p.Ile402Leu) c.801A>C (n.801A>C) c.550A>C (p.Ile184Leu) c.319+2309A>C | |
11 | g.71435503T= | CA1981486853 | DHCR7 | c.1300A= (p.Ile434=) c.1126A= (p.Ile376=) c.1351A= (p.Ile451=) c.1336A= (p.Ile446=) c.*63A= (n.*63A=) n.1340A= c.715A= (p.Ile239=) c.1204A= (p.Ile402=) c.801A= (n.801A=) c.550A= (p.Ile184=) c.319+2309A= | |
11 | g.71435504G>A | CA475860935 | DHCR7 | c.1299C>T (p.Ile433=) c.1125C>T (p.Ile375=) c.1350C>T (p.Ile450=) c.1335C>T (p.Ile445=) c.*62C>T (n.*62C>T) n.1339C>T c.714C>T (p.Ile238=) c.1203C>T (p.Ile401=) c.800C>T (n.800C>T) c.549C>T (p.Ile183=) c.319+2308C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435504G>C | CA381700991 | DHCR7 | c.1299C>G (p.Ile433Met) c.1125C>G (p.Ile375Met) c.1350C>G (p.Ile450Met) c.1335C>G (p.Ile445Met) c.*62C>G (n.*62C>G) n.1339C>G c.714C>G (p.Ile238Met) c.1203C>G (p.Ile401Met) c.800C>G (n.800C>G) c.549C>G (p.Ile183Met) c.319+2308C>G | |
11 | g.71435504G= | CA1981486854 | DHCR7 | c.1299C= (p.Ile433=) c.1125C= (p.Ile375=) c.1350C= (p.Ile450=) c.1335C= (p.Ile445=) c.*62C= (n.*62C=) n.1339C= c.714C= (p.Ile238=) c.1203C= (p.Ile401=) c.800C= (n.800C=) c.549C= (p.Ile183=) c.319+2308C= | |
11 | g.71435504G>T | CA475860936 | DHCR7 | c.1299C>A (p.Ile433=) c.1125C>A (p.Ile375=) c.1350C>A (p.Ile450=) c.1335C>A (p.Ile445=) c.*62C>A (n.*62C>A) n.1339C>A c.714C>A (p.Ile238=) c.1203C>A (p.Ile401=) c.800C>A (n.800C>A) c.549C>A (p.Ile183=) c.319+2308C>A | |
11 | g.71435505A>C | CA381700995 | DHCR7 | c.1298T>G (p.Ile433Ser) c.1124T>G (p.Ile375Ser) c.1349T>G (p.Ile450Ser) c.1334T>G (p.Ile445Ser) c.*61T>G (n.*61T>G) n.1338T>G c.713T>G (p.Ile238Ser) c.1202T>G (p.Ile401Ser) c.799T>G (n.799T>G) c.548T>G (p.Ile183Ser) c.319+2307T>G | |
11 | g.71435505A>G | CA381700997 | DHCR7 | c.1298T>C (p.Ile433Thr) c.1124T>C (p.Ile375Thr) c.1349T>C (p.Ile450Thr) c.1334T>C (p.Ile445Thr) c.*61T>C (n.*61T>C) n.1338T>C c.713T>C (p.Ile238Thr) c.1202T>C (p.Ile401Thr) c.799T>C (n.799T>C) c.548T>C (p.Ile183Thr) c.319+2307T>C | |
11 | g.71435505A>T | CA381701000 | DHCR7 | c.1298T>A (p.Ile433Asn) c.1124T>A (p.Ile375Asn) c.1349T>A (p.Ile450Asn) c.1334T>A (p.Ile445Asn) c.*61T>A (n.*61T>A) n.1338T>A c.713T>A (p.Ile238Asn) c.1202T>A (p.Ile401Asn) c.799T>A (n.799T>A) c.548T>A (p.Ile183Asn) c.319+2307T>A | |
11 | g.71435506T>A | CA381701002 | DHCR7 | c.1297A>T (p.Ile433Phe) c.1123A>T (p.Ile375Phe) c.1348A>T (p.Ile450Phe) c.1333A>T (p.Ile445Phe) c.*60A>T (n.*60A>T) n.1337A>T c.712A>T (p.Ile238Phe) c.1201A>T (p.Ile401Phe) c.798A>T (n.798A>T) c.547A>T (p.Ile183Phe) c.319+2306A>T | |
11 | g.71435506T>C | CA381701004 | DHCR7 | c.1297A>G (p.Ile433Val) c.1123A>G (p.Ile375Val) c.1348A>G (p.Ile450Val) c.1333A>G (p.Ile445Val) c.*60A>G (n.*60A>G) n.1337A>G c.712A>G (p.Ile238Val) c.1201A>G (p.Ile401Val) c.798A>G (n.798A>G) c.547A>G (p.Ile183Val) c.319+2306A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435506T>G | CA381701006 | DHCR7 | c.1297A>C (p.Ile433Leu) c.1123A>C (p.Ile375Leu) c.1348A>C (p.Ile450Leu) c.1333A>C (p.Ile445Leu) c.*60A>C (n.*60A>C) n.1337A>C c.712A>C (p.Ile238Leu) c.1201A>C (p.Ile401Leu) c.798A>C (n.798A>C) c.547A>C (p.Ile183Leu) c.319+2306A>C | |
11 | g.71435506T= | CA1981486855 | DHCR7 | c.1297A= (p.Ile433=) c.1123A= (p.Ile375=) c.1348A= (p.Ile450=) c.1333A= (p.Ile445=) c.*60A= (n.*60A=) n.1337A= c.712A= (p.Ile238=) c.1201A= (p.Ile401=) c.798A= (n.798A=) c.547A= (p.Ile183=) c.319+2306A= | |
11 | g.71435507G>A | CA475860938 | DHCR7 | c.1296C>T (p.Tyr432=) c.1122C>T (p.Tyr374=) c.1347C>T (p.Tyr449=) c.1332C>T (p.Tyr444=) c.*59C>T (n.*59C>T) n.1336C>T c.711C>T (p.Tyr237=) c.1200C>T (p.Tyr400=) c.797C>T (n.797C>T) c.546C>T (p.Tyr182=) c.319+2305C>T | gnomAD v4 |
11 | g.71435507G>C | CA381701008 | DHCR7 | c.1296C>G (p.Tyr432Ter) c.1122C>G (p.Tyr374Ter) c.1347C>G (p.Tyr449Ter) c.1332C>G (p.Tyr444Ter) c.*59C>G (n.*59C>G) n.1336C>G c.711C>G (p.Tyr237Ter) c.1200C>G (p.Tyr400Ter) c.797C>G (n.797C>G) c.546C>G (p.Tyr182Ter) c.319+2305C>G | |
11 | g.71435507G>T | CA381701011 | DHCR7 | c.1296C>A (p.Tyr432Ter) c.1122C>A (p.Tyr374Ter) c.1347C>A (p.Tyr449Ter) c.1332C>A (p.Tyr444Ter) c.*59C>A (n.*59C>A) n.1336C>A c.711C>A (p.Tyr237Ter) c.1200C>A (p.Tyr400Ter) c.797C>A (n.797C>A) c.546C>A (p.Tyr182Ter) c.319+2305C>A | gnomAD v4 |
11 | g.71435508T>A | CA381701014 | DHCR7 | c.1295A>T (p.Tyr432Phe) c.1121A>T (p.Tyr374Phe) c.1346A>T (p.Tyr449Phe) c.1331A>T (p.Tyr444Phe) c.*58A>T (n.*58A>T) n.1335A>T c.710A>T (p.Tyr237Phe) c.1199A>T (p.Tyr400Phe) c.796A>T (n.796A>T) c.545A>T (p.Tyr182Phe) c.319+2304A>T | ClinVar dbSNP |
11 | g.71435508T>C | CA381701018 | DHCR7 | c.1295A>G (p.Tyr432Cys) c.1121A>G (p.Tyr374Cys) c.1346A>G (p.Tyr449Cys) c.1331A>G (p.Tyr444Cys) c.*58A>G (n.*58A>G) n.1335A>G c.710A>G (p.Tyr237Cys) c.1199A>G (p.Tyr400Cys) c.796A>G (n.796A>G) c.545A>G (p.Tyr182Cys) c.319+2304A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435508T>G | CA381701016 | DHCR7 | c.1295A>C (p.Tyr432Ser) c.1121A>C (p.Tyr374Ser) c.1346A>C (p.Tyr449Ser) c.1331A>C (p.Tyr444Ser) c.*58A>C (n.*58A>C) n.1335A>C c.710A>C (p.Tyr237Ser) c.1199A>C (p.Tyr400Ser) c.796A>C (n.796A>C) c.545A>C (p.Tyr182Ser) c.319+2304A>C | gnomAD v4 |
11 | g.71435508T= | CA1981486856 | DHCR7 | c.1295A= (p.Tyr432=) c.1121A= (p.Tyr374=) c.1346A= (p.Tyr449=) c.1331A= (p.Tyr444=) c.*58A= (n.*58A=) n.1335A= c.710A= (p.Tyr237=) c.1199A= (p.Tyr400=) c.796A= (n.796A=) c.545A= (p.Tyr182=) c.319+2304A= | |
11 | g.71435509A= | CA1981486857 | DHCR7 | c.1294T= (p.Tyr432=) c.1120T= (p.Tyr374=) c.1345T= (p.Tyr449=) c.1330T= (p.Tyr444=) c.*57T= (n.*57T=) n.1334T= c.709T= (p.Tyr237=) c.1198T= (p.Tyr400=) c.795T= (n.795T=) c.544T= (p.Tyr182=) c.319+2303T= | |
11 | g.71435509A>C | CA381701022 | DHCR7 | c.1294T>G (p.Tyr432Asp) c.1120T>G (p.Tyr374Asp) c.1345T>G (p.Tyr449Asp) c.1330T>G (p.Tyr444Asp) c.*57T>G (n.*57T>G) n.1334T>G c.709T>G (p.Tyr237Asp) c.1198T>G (p.Tyr400Asp) c.795T>G (n.795T>G) c.544T>G (p.Tyr182Asp) c.319+2303T>G | dbSNP |
11 | g.71435509A>G | CA6162267 | DHCR7 | c.1294T>C (p.Tyr432His) c.1120T>C (p.Tyr374His) c.1345T>C (p.Tyr449His) c.1330T>C (p.Tyr444His) c.*57T>C (n.*57T>C) n.1334T>C c.709T>C (p.Tyr237His) c.1198T>C (p.Tyr400His) c.795T>C (n.795T>C) c.544T>C (p.Tyr182His) c.319+2303T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435509A>T | CA381701023 | DHCR7 | c.1294T>A (p.Tyr432Asn) c.1120T>A (p.Tyr374Asn) c.1345T>A (p.Tyr449Asn) c.1330T>A (p.Tyr444Asn) c.*57T>A (n.*57T>A) n.1334T>A c.709T>A (p.Tyr237Asn) c.1198T>A (p.Tyr400Asn) c.795T>A (n.795T>A) c.544T>A (p.Tyr182Asn) c.319+2303T>A | |
11 | g.71435510G>A | CA6162268 | DHCR7 | c.1293C>T (p.Phe431=) c.1119C>T (p.Phe373=) c.1344C>T (p.Phe448=) c.1329C>T (p.Phe443=) c.*56C>T (n.*56C>T) n.1333C>T c.708C>T (p.Phe236=) c.1197C>T (p.Phe399=) c.794C>T (n.794C>T) c.543C>T (p.Phe181=) c.319+2302C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435510G>C | CA381701030 | DHCR7 | c.1293C>G (p.Phe431Leu) c.1119C>G (p.Phe373Leu) c.1344C>G (p.Phe448Leu) c.1329C>G (p.Phe443Leu) c.*56C>G (n.*56C>G) n.1333C>G c.708C>G (p.Phe236Leu) c.1197C>G (p.Phe399Leu) c.794C>G (n.794C>G) c.543C>G (p.Phe181Leu) c.319+2302C>G | COSMIC COSMIC |
11 | g.71435510G= | CA1981486858 | DHCR7 | c.1293C= (p.Phe431=) c.1119C= (p.Phe373=) c.1344C= (p.Phe448=) c.1329C= (p.Phe443=) c.*56C= (n.*56C=) n.1333C= c.708C= (p.Phe236=) c.1197C= (p.Phe399=) c.794C= (n.794C=) c.543C= (p.Phe181=) c.319+2302C= | |
11 | g.71435510G>T | CA381701027 | DHCR7 | c.1293C>A (p.Phe431Leu) c.1119C>A (p.Phe373Leu) c.1344C>A (p.Phe448Leu) c.1329C>A (p.Phe443Leu) c.*56C>A (n.*56C>A) n.1333C>A c.708C>A (p.Phe236Leu) c.1197C>A (p.Phe399Leu) c.794C>A (n.794C>A) c.543C>A (p.Phe181Leu) c.319+2302C>A | gnomAD v4 |
11 | g.71435511A>C | CA381701033 | DHCR7 | c.1292T>G (p.Phe431Cys) c.1118T>G (p.Phe373Cys) c.1343T>G (p.Phe448Cys) c.1328T>G (p.Phe443Cys) c.*55T>G (n.*55T>G) n.1332T>G c.707T>G (p.Phe236Cys) c.1196T>G (p.Phe399Cys) c.793T>G (n.793T>G) c.542T>G (p.Phe181Cys) c.319+2301T>G | |
11 | g.71435511A>G | CA381701035 | DHCR7 | c.1292T>C (p.Phe431Ser) c.1118T>C (p.Phe373Ser) c.1343T>C (p.Phe448Ser) c.1328T>C (p.Phe443Ser) c.*55T>C (n.*55T>C) n.1332T>C c.707T>C (p.Phe236Ser) c.1196T>C (p.Phe399Ser) c.793T>C (n.793T>C) c.542T>C (p.Phe181Ser) c.319+2301T>C | |
11 | g.71435511A>T | CA381701038 | DHCR7 | c.1292T>A (p.Phe431Tyr) c.1118T>A (p.Phe373Tyr) c.1343T>A (p.Phe448Tyr) c.1328T>A (p.Phe443Tyr) c.*55T>A (n.*55T>A) n.1332T>A c.707T>A (p.Phe236Tyr) c.1196T>A (p.Phe399Tyr) c.793T>A (n.793T>A) c.542T>A (p.Phe181Tyr) c.319+2301T>A | gnomAD v4 |
11 | g.71435512A= | CA1981486859 | DHCR7 | c.1291T= (p.Phe431=) c.1117T= (p.Phe373=) c.1342T= (p.Phe448=) c.1327T= (p.Phe443=) c.*54T= (n.*54T=) n.1331T= c.706T= (p.Phe236=) c.1195T= (p.Phe399=) c.792T= (n.792T=) c.541T= (p.Phe181=) c.319+2300T= | |
11 | g.71435512A>C | CA381701039 | DHCR7 | c.1291T>G (p.Phe431Val) c.1117T>G (p.Phe373Val) c.1342T>G (p.Phe448Val) c.1327T>G (p.Phe443Val) c.*54T>G (n.*54T>G) n.1331T>G c.706T>G (p.Phe236Val) c.1195T>G (p.Phe399Val) c.792T>G (n.792T>G) c.541T>G (p.Phe181Val) c.319+2300T>G | |
11 | g.71435512A>G | CA381701042 | DHCR7 | c.1291T>C (p.Phe431Leu) c.1117T>C (p.Phe373Leu) c.1342T>C (p.Phe448Leu) c.1327T>C (p.Phe443Leu) c.*54T>C (n.*54T>C) n.1331T>C c.706T>C (p.Phe236Leu) c.1195T>C (p.Phe399Leu) c.792T>C (n.792T>C) c.541T>C (p.Phe181Leu) c.319+2300T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435512A>T | CA381701046 | DHCR7 | c.1291T>A (p.Phe431Ile) c.1117T>A (p.Phe373Ile) c.1342T>A (p.Phe448Ile) c.1327T>A (p.Phe443Ile) c.*54T>A (n.*54T>A) n.1331T>A c.706T>A (p.Phe236Ile) c.1195T>A (p.Phe399Ile) c.792T>A (n.792T>A) c.541T>A (p.Phe181Ile) c.319+2300T>A | |
11 | g.71435513G>A | CA475860942 | DHCR7 | c.1290C>T (p.Tyr430=) c.1116C>T (p.Tyr372=) c.1341C>T (p.Tyr447=) c.1326C>T (p.Tyr442=) c.*53C>T (n.*53C>T) n.1330C>T c.705C>T (p.Tyr235=) c.1194C>T (p.Tyr398=) c.791C>T (n.791C>T) c.540C>T (p.Tyr180=) c.319+2299C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435513G>C | CA6162269 | DHCR7 | c.1290C>G (p.Tyr430Ter) c.1116C>G (p.Tyr372Ter) c.1341C>G (p.Tyr447Ter) c.1326C>G (p.Tyr442Ter) c.*53C>G (n.*53C>G) n.1330C>G c.705C>G (p.Tyr235Ter) c.1194C>G (p.Tyr398Ter) c.791C>G (n.791C>G) c.540C>G (p.Tyr180Ter) c.319+2299C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435513G= | CA1981486860 | DHCR7 | c.1290C= (p.Tyr430=) c.1116C= (p.Tyr372=) c.1341C= (p.Tyr447=) c.1326C= (p.Tyr442=) c.*53C= (n.*53C=) n.1330C= c.705C= (p.Tyr235=) c.1194C= (p.Tyr398=) c.791C= (n.791C=) c.540C= (p.Tyr180=) c.319+2299C= | |
11 | g.71435513G>T | CA381701050 | DHCR7 | c.1290C>A (p.Tyr430Ter) c.1116C>A (p.Tyr372Ter) c.1341C>A (p.Tyr447Ter) c.1326C>A (p.Tyr442Ter) c.*53C>A (n.*53C>A) n.1330C>A c.705C>A (p.Tyr235Ter) c.1194C>A (p.Tyr398Ter) c.791C>A (n.791C>A) c.540C>A (p.Tyr180Ter) c.319+2299C>A | |
11 | g.71435514T>A | CA381701053 | DHCR7 | c.1289A>T (p.Tyr430Phe) c.1115A>T (p.Tyr372Phe) c.1340A>T (p.Tyr447Phe) c.1325A>T (p.Tyr442Phe) c.*52A>T (n.*52A>T) n.1329A>T c.704A>T (p.Tyr235Phe) c.1193A>T (p.Tyr398Phe) c.790A>T (n.790A>T) c.539A>T (p.Tyr180Phe) c.319+2298A>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435514T>C | CA381701055 | DHCR7 | c.1289A>G (p.Tyr430Cys) c.1115A>G (p.Tyr372Cys) c.1340A>G (p.Tyr447Cys) c.1325A>G (p.Tyr442Cys) c.*52A>G (n.*52A>G) n.1329A>G c.704A>G (p.Tyr235Cys) c.1193A>G (p.Tyr398Cys) c.790A>G (n.790A>G) c.539A>G (p.Tyr180Cys) c.319+2298A>G | |
11 | g.71435514T>G | CA381701057 | DHCR7 | c.1289A>C (p.Tyr430Ser) c.1115A>C (p.Tyr372Ser) c.1340A>C (p.Tyr447Ser) c.1325A>C (p.Tyr442Ser) c.*52A>C (n.*52A>C) n.1329A>C c.704A>C (p.Tyr235Ser) c.1193A>C (p.Tyr398Ser) c.790A>C (n.790A>C) c.539A>C (p.Tyr180Ser) c.319+2298A>C | |
11 | g.71435514T= | CA1981486861 | DHCR7 | c.1289A= (p.Tyr430=) c.1115A= (p.Tyr372=) c.1340A= (p.Tyr447=) c.1325A= (p.Tyr442=) c.*52A= (n.*52A=) n.1329A= c.704A= (p.Tyr235=) c.1193A= (p.Tyr398=) c.790A= (n.790A=) c.539A= (p.Tyr180=) c.319+2298A= | |
11 | g.71435515A>C | CA381701065 | DHCR7 | c.1288T>G (p.Tyr430Asp) c.1114T>G (p.Tyr372Asp) c.1339T>G (p.Tyr447Asp) c.1324T>G (p.Tyr442Asp) c.*51T>G (n.*51T>G) n.1328T>G c.703T>G (p.Tyr235Asp) c.1192T>G (p.Tyr398Asp) c.789T>G (n.789T>G) c.538T>G (p.Tyr180Asp) c.319+2297T>G | |
11 | g.71435515A>G | CA381701059 | DHCR7 | c.1288T>C (p.Tyr430His) c.1114T>C (p.Tyr372His) c.1339T>C (p.Tyr447His) c.1324T>C (p.Tyr442His) c.*51T>C (n.*51T>C) n.1328T>C c.703T>C (p.Tyr235His) c.1192T>C (p.Tyr398His) c.789T>C (n.789T>C) c.538T>C (p.Tyr180His) c.319+2297T>C | |
11 | g.71435515A>T | CA381701061 | DHCR7 | c.1288T>A (p.Tyr430Asn) c.1114T>A (p.Tyr372Asn) c.1339T>A (p.Tyr447Asn) c.1324T>A (p.Tyr442Asn) c.*51T>A (n.*51T>A) n.1328T>A c.703T>A (p.Tyr235Asn) c.1192T>A (p.Tyr398Asn) c.789T>A (n.789T>A) c.538T>A (p.Tyr180Asn) c.319+2297T>A | |
11 | g.71435516G>A | CA475860944 | DHCR7 | c.1287C>T (p.Pro429=) c.1113C>T (p.Pro371=) c.1338C>T (p.Pro446=) c.1323C>T (p.Pro441=) c.*50C>T (n.*50C>T) n.1327C>T c.702C>T (p.Pro234=) c.1191C>T (p.Pro397=) c.788C>T (n.788C>T) c.537C>T (p.Pro179=) c.319+2296C>T | ClinVar dbSNP COSMIC COSMIC |
11 | g.71435516G>C | CA475860945 | DHCR7 | c.1287C>G (p.Pro429=) c.1113C>G (p.Pro371=) c.1338C>G (p.Pro446=) c.1323C>G (p.Pro441=) c.*50C>G (n.*50C>G) n.1327C>G c.702C>G (p.Pro234=) c.1191C>G (p.Pro397=) c.788C>G (n.788C>G) c.537C>G (p.Pro179=) c.319+2296C>G | gnomAD v4 |
11 | g.71435516G>T | CA475860946 | DHCR7 | c.1287C>A (p.Pro429=) c.1113C>A (p.Pro371=) c.1338C>A (p.Pro446=) c.1323C>A (p.Pro441=) c.*50C>A (n.*50C>A) n.1327C>A c.702C>A (p.Pro234=) c.1191C>A (p.Pro397=) c.788C>A (n.788C>A) c.537C>A (p.Pro179=) c.319+2296C>A | gnomAD v4 |
11 | g.71435518del | CA2574909184 | DHCR7 | c.1287del (p.Tyr430ThrfsTer11) c.1113del (p.Tyr372ThrfsTer11) c.1338del (p.Tyr447ThrfsTer11) c.1323del (p.Tyr442ThrfsTer11) c.*50del (n.*50del) n.1327del c.702del (p.Tyr235ThrfsTer11) c.1191del (p.Tyr398ThrfsTer11) c.788del (n.788del) c.537del (p.Tyr180ThrfsTer11) c.319+2296del | |
11 | g.71435517G>A | CA381701068 | DHCR7 | c.1286C>T (p.Pro429Leu) c.1112C>T (p.Pro371Leu) c.1337C>T (p.Pro446Leu) c.1322C>T (p.Pro441Leu) c.*49C>T (n.*49C>T) n.1326C>T c.701C>T (p.Pro234Leu) c.1190C>T (p.Pro397Leu) c.787C>T (n.787C>T) c.536C>T (p.Pro179Leu) c.319+2295C>T | dbSNP gnomAD v4 |
11 | g.71435517G>C | CA381701071 | DHCR7 | c.1286C>G (p.Pro429Arg) c.1112C>G (p.Pro371Arg) c.1337C>G (p.Pro446Arg) c.1322C>G (p.Pro441Arg) c.*49C>G (n.*49C>G) n.1326C>G c.701C>G (p.Pro234Arg) c.1190C>G (p.Pro397Arg) c.787C>G (n.787C>G) c.536C>G (p.Pro179Arg) c.319+2295C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435517G= | CA1981486862 | DHCR7 | c.1286C= (p.Pro429=) c.1112C= (p.Pro371=) c.1337C= (p.Pro446=) c.1322C= (p.Pro441=) c.*49C= (n.*49C=) n.1326C= c.701C= (p.Pro234=) c.1190C= (p.Pro397=) c.787C= (n.787C=) c.536C= (p.Pro179=) c.319+2295C= | |
11 | g.71435517G>T | CA381701074 | DHCR7 | c.1286C>A (p.Pro429His) c.1112C>A (p.Pro371His) c.1337C>A (p.Pro446His) c.1322C>A (p.Pro441His) c.*49C>A (n.*49C>A) n.1326C>A c.701C>A (p.Pro234His) c.1190C>A (p.Pro397His) c.787C>A (n.787C>A) c.536C>A (p.Pro179His) c.319+2295C>A | |
11 | g.71435518G>A | CA381701077 | DHCR7 | c.1285C>T (p.Pro429Ser) c.1111C>T (p.Pro371Ser) c.1336C>T (p.Pro446Ser) c.1321C>T (p.Pro441Ser) c.*48C>T (n.*48C>T) n.1325C>T c.700C>T (p.Pro234Ser) c.1189C>T (p.Pro397Ser) c.786C>T (n.786C>T) c.535C>T (p.Pro179Ser) c.319+2294C>T | gnomAD v4 |
11 | g.71435518G>C | CA381701078 | DHCR7 | c.1285C>G (p.Pro429Ala) c.1111C>G (p.Pro371Ala) c.1336C>G (p.Pro446Ala) c.1321C>G (p.Pro441Ala) c.*48C>G (n.*48C>G) n.1325C>G c.700C>G (p.Pro234Ala) c.1189C>G (p.Pro397Ala) c.786C>G (n.786C>G) c.535C>G (p.Pro179Ala) c.319+2294C>G | |
11 | g.71435518G>T | CA381701084 | DHCR7 | c.1285C>A (p.Pro429Thr) c.1111C>A (p.Pro371Thr) c.1336C>A (p.Pro446Thr) c.1321C>A (p.Pro441Thr) c.*48C>A (n.*48C>A) n.1325C>A c.700C>A (p.Pro234Thr) c.1189C>A (p.Pro397Thr) c.786C>A (n.786C>A) c.535C>A (p.Pro179Thr) c.319+2294C>A | gnomAD v4 |
11 | g.71435519C>A | CA475860948 | DHCR7 | c.1284G>T (p.Leu428=) c.1110G>T (p.Leu370=) c.1335G>T (p.Leu445=) c.1320G>T (p.Leu440=) c.*47G>T (n.*47G>T) n.1324G>T c.699G>T (p.Leu233=) c.1188G>T (p.Leu396=) c.785G>T (n.785G>T) c.534G>T (p.Leu178=) c.319+2293G>T | gnomAD v4 |
11 | g.71435519C= | CA1981486863 | DHCR7 | c.1284G= (p.Leu428=) c.1110G= (p.Leu370=) c.1335G= (p.Leu445=) c.1320G= (p.Leu440=) c.*47G= (n.*47G=) n.1324G= c.699G= (p.Leu233=) c.1188G= (p.Leu396=) c.785G= (n.785G=) c.534G= (p.Leu178=) c.319+2293G= | |
11 | g.71435519C>G | CA475860949 | DHCR7 | c.1284G>C (p.Leu428=) c.1110G>C (p.Leu370=) c.1335G>C (p.Leu445=) c.1320G>C (p.Leu440=) c.*47G>C (n.*47G>C) n.1324G>C c.699G>C (p.Leu233=) c.1188G>C (p.Leu396=) c.785G>C (n.785G>C) c.534G>C (p.Leu178=) c.319+2293G>C | ClinVar gnomAD v4 |
11 | g.71435519C>T | CA6162270 | DHCR7 | c.1284G>A (p.Leu428=) c.1110G>A (p.Leu370=) c.1335G>A (p.Leu445=) c.1320G>A (p.Leu440=) c.*47G>A (n.*47G>A) n.1324G>A c.699G>A (p.Leu233=) c.1188G>A (p.Leu396=) c.785G>A (n.785G>A) c.534G>A (p.Leu178=) c.319+2293G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435520A>C | CA381701088 | DHCR7 | c.1283T>G (p.Leu428Arg) c.1109T>G (p.Leu370Arg) c.1334T>G (p.Leu445Arg) c.1319T>G (p.Leu440Arg) c.*46T>G (n.*46T>G) n.1323T>G c.698T>G (p.Leu233Arg) c.1187T>G (p.Leu396Arg) c.784T>G (n.784T>G) c.533T>G (p.Leu178Arg) c.319+2292T>G | |
11 | g.71435520A>G | CA381701091 | DHCR7 | c.1283T>C (p.Leu428Pro) c.1109T>C (p.Leu370Pro) c.1334T>C (p.Leu445Pro) c.1319T>C (p.Leu440Pro) c.*46T>C (n.*46T>C) n.1323T>C c.698T>C (p.Leu233Pro) c.1187T>C (p.Leu396Pro) c.784T>C (n.784T>C) c.533T>C (p.Leu178Pro) c.319+2292T>C | |
11 | g.71435520A>T | CA381701094 | DHCR7 | c.1283T>A (p.Leu428Gln) c.1109T>A (p.Leu370Gln) c.1334T>A (p.Leu445Gln) c.1319T>A (p.Leu440Gln) c.*46T>A (n.*46T>A) n.1323T>A c.698T>A (p.Leu233Gln) c.1187T>A (p.Leu396Gln) c.784T>A (n.784T>A) c.533T>A (p.Leu178Gln) c.319+2292T>A | |
11 | g.71435521G>A | CA475860951 | DHCR7 | c.1282C>T (p.Leu428=) c.1108C>T (p.Leu370=) c.1333C>T (p.Leu445=) c.1318C>T (p.Leu440=) c.*45C>T (n.*45C>T) n.1322C>T c.697C>T (p.Leu233=) c.1186C>T (p.Leu396=) c.783C>T (n.783C>T) c.532C>T (p.Leu178=) c.319+2291C>T | |
11 | g.71435521G>C | CA381701098 | DHCR7 | c.1282C>G (p.Leu428Val) c.1108C>G (p.Leu370Val) c.1333C>G (p.Leu445Val) c.1318C>G (p.Leu440Val) c.*45C>G (n.*45C>G) n.1322C>G c.697C>G (p.Leu233Val) c.1186C>G (p.Leu396Val) c.783C>G (n.783C>G) c.532C>G (p.Leu178Val) c.319+2291C>G | dbSNP |
11 | g.71435521G= | CA1981486864 | DHCR7 | c.1282C= (p.Leu428=) c.1108C= (p.Leu370=) c.1333C= (p.Leu445=) c.1318C= (p.Leu440=) c.*45C= (n.*45C=) n.1322C= c.697C= (p.Leu233=) c.1186C= (p.Leu396=) c.783C= (n.783C=) c.532C= (p.Leu178=) c.319+2291C= | |
11 | g.71435521G>T | CA381701095 | DHCR7 | c.1282C>A (p.Leu428Met) c.1108C>A (p.Leu370Met) c.1333C>A (p.Leu445Met) c.1318C>A (p.Leu440Met) c.*45C>A (n.*45C>A) n.1322C>A c.697C>A (p.Leu233Met) c.1186C>A (p.Leu396Met) c.783C>A (n.783C>A) c.532C>A (p.Leu178Met) c.319+2291C>A | |
11 | g.71435522C>A | CA475860952 | DHCR7 | c.1281G>T (p.Leu427=) c.1107G>T (p.Leu369=) c.1332G>T (p.Leu444=) c.1317G>T (p.Leu439=) c.*44G>T (n.*44G>T) n.1321G>T c.696G>T (p.Leu232=) c.1185G>T (p.Leu395=) c.782G>T (n.782G>T) c.531G>T (p.Leu177=) c.319+2290G>T | gnomAD v4 |
11 | g.71435522C>G | CA475860953 | DHCR7 | c.1281G>C (p.Leu427=) c.1107G>C (p.Leu369=) c.1332G>C (p.Leu444=) c.1317G>C (p.Leu439=) c.*44G>C (n.*44G>C) n.1321G>C c.696G>C (p.Leu232=) c.1185G>C (p.Leu395=) c.782G>C (n.782G>C) c.531G>C (p.Leu177=) c.319+2290G>C | gnomAD v3 gnomAD v4 |
11 | g.71435522C>T | CA475860954 | DHCR7 | c.1281G>A (p.Leu427=) c.1107G>A (p.Leu369=) c.1332G>A (p.Leu444=) c.1317G>A (p.Leu439=) c.*44G>A (n.*44G>A) n.1321G>A c.696G>A (p.Leu232=) c.1185G>A (p.Leu395=) c.782G>A (n.782G>A) c.531G>A (p.Leu177=) c.319+2290G>A | gnomAD v4 |
11 | g.71435523A>C | CA381701101 | DHCR7 | c.1280T>G (p.Leu427Arg) c.1106T>G (p.Leu369Arg) c.1331T>G (p.Leu444Arg) c.1316T>G (p.Leu439Arg) c.*43T>G (n.*43T>G) n.1320T>G c.695T>G (p.Leu232Arg) c.1184T>G (p.Leu395Arg) c.781T>G (n.781T>G) c.530T>G (p.Leu177Arg) c.319+2289T>G | |
11 | g.71435523A>G | CA381701104 | DHCR7 | c.1280T>C (p.Leu427Pro) c.1106T>C (p.Leu369Pro) c.1331T>C (p.Leu444Pro) c.1316T>C (p.Leu439Pro) c.*43T>C (n.*43T>C) n.1320T>C c.695T>C (p.Leu232Pro) c.1184T>C (p.Leu395Pro) c.781T>C (n.781T>C) c.530T>C (p.Leu177Pro) c.319+2289T>C | |
11 | g.71435523A>T | CA381701106 | DHCR7 | c.1280T>A (p.Leu427Gln) c.1106T>A (p.Leu369Gln) c.1331T>A (p.Leu444Gln) c.1316T>A (p.Leu439Gln) c.*43T>A (n.*43T>A) n.1320T>A c.695T>A (p.Leu232Gln) c.1184T>A (p.Leu395Gln) c.781T>A (n.781T>A) c.530T>A (p.Leu177Gln) c.319+2289T>A | |
11 | g.71435524G>A | CA475860958 | DHCR7 | c.1279C>T (p.Leu427=) c.1105C>T (p.Leu369=) c.1330C>T (p.Leu444=) c.1315C>T (p.Leu439=) c.*42C>T (n.*42C>T) n.1319C>T c.694C>T (p.Leu232=) c.1183C>T (p.Leu395=) c.780C>T (n.780C>T) c.529C>T (p.Leu177=) c.319+2288C>T | |
11 | g.71435524G>C | CA381701109 | DHCR7 | c.1279C>G (p.Leu427Val) c.1105C>G (p.Leu369Val) c.1330C>G (p.Leu444Val) c.1315C>G (p.Leu439Val) c.*42C>G (n.*42C>G) n.1319C>G c.694C>G (p.Leu232Val) c.1183C>G (p.Leu395Val) c.780C>G (n.780C>G) c.529C>G (p.Leu177Val) c.319+2288C>G | |
11 | g.71435524G>T | CA381701113 | DHCR7 | c.1279C>A (p.Leu427Met) c.1105C>A (p.Leu369Met) c.1330C>A (p.Leu444Met) c.1315C>A (p.Leu439Met) c.*42C>A (n.*42C>A) n.1319C>A c.694C>A (p.Leu232Met) c.1183C>A (p.Leu395Met) c.780C>A (n.780C>A) c.529C>A (p.Leu177Met) c.319+2288C>A | gnomAD v4 |
11 | g.71435525dup | CA2838688352 | DHCR7 | c.1279dup (p.Leu427ProfsTer?) c.1105dup (p.Leu369ProfsTer?) c.1330dup (p.Leu444ProfsTer?) c.1315dup (p.Leu439ProfsTer?) c.*42dup (n.*42dup) n.1319dup c.694dup (p.Leu232ProfsTer?) c.1183dup (p.Leu395ProfsTer?) c.780dup (n.780dup) c.529dup (p.Leu177ProfsTer?) c.319+2288dup | |
11 | g.71435525G>A | CA475860959 | DHCR7 | c.1278C>T (p.His426=) c.1104C>T (p.His368=) c.1329C>T (p.His443=) c.1314C>T (p.His438=) c.*41C>T (n.*41C>T) n.1318C>T c.693C>T (p.His231=) c.1182C>T (p.His394=) c.779C>T (n.779C>T) c.528C>T (p.His176=) c.319+2287C>T | ClinVar dbSNP gnomAD v4 |
11 | g.71435525G>C | CA381701116 | DHCR7 | c.1278C>G (p.His426Gln) c.1104C>G (p.His368Gln) c.1329C>G (p.His443Gln) c.1314C>G (p.His438Gln) c.*41C>G (n.*41C>G) n.1318C>G c.693C>G (p.His231Gln) c.1182C>G (p.His394Gln) c.779C>G (n.779C>G) c.528C>G (p.His176Gln) c.319+2287C>G | |
11 | g.71435525G= | CA1981486865 | DHCR7 | c.1278C= (p.His426=) c.1104C= (p.His368=) c.1329C= (p.His443=) c.1314C= (p.His438=) c.*41C= (n.*41C=) n.1318C= c.693C= (p.His231=) c.1182C= (p.His394=) c.779C= (n.779C=) c.528C= (p.His176=) c.319+2287C= | |
11 | g.71435525G>T | CA6162271 | DHCR7 | c.1278C>A (p.His426Gln) c.1104C>A (p.His368Gln) c.1329C>A (p.His443Gln) c.1314C>A (p.His438Gln) c.*41C>A (n.*41C>A) n.1318C>A c.693C>A (p.His231Gln) c.1182C>A (p.His394Gln) c.779C>A (n.779C>A) c.528C>A (p.His176Gln) c.319+2287C>A | dbSNP ExAC |
11 | g.71435526T>A | CA381701120 | DHCR7 | c.1277A>T (p.His426Leu) c.1103A>T (p.His368Leu) c.1328A>T (p.His443Leu) c.1313A>T (p.His438Leu) c.*40A>T (n.*40A>T) n.1317A>T c.692A>T (p.His231Leu) c.1181A>T (p.His394Leu) c.778A>T (n.778A>T) c.527A>T (p.His176Leu) c.319+2286A>T | |
11 | g.71435526T>C | CA381701122 | DHCR7 | c.1277A>G (p.His426Arg) c.1103A>G (p.His368Arg) c.1328A>G (p.His443Arg) c.1313A>G (p.His438Arg) c.*40A>G (n.*40A>G) n.1317A>G c.692A>G (p.His231Arg) c.1181A>G (p.His394Arg) c.778A>G (n.778A>G) c.527A>G (p.His176Arg) c.319+2286A>G | |
11 | g.71435526T>G | CA381701125 | DHCR7 | c.1277A>C (p.His426Pro) c.1103A>C (p.His368Pro) c.1328A>C (p.His443Pro) c.1313A>C (p.His438Pro) c.*40A>C (n.*40A>C) n.1317A>C c.692A>C (p.His231Pro) c.1181A>C (p.His394Pro) c.778A>C (n.778A>C) c.527A>C (p.His176Pro) c.319+2286A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435526T= | CA1981486866 | DHCR7 | c.1277A= (p.His426=) c.1103A= (p.His368=) c.1328A= (p.His443=) c.1313A= (p.His438=) c.*40A= (n.*40A=) n.1317A= c.692A= (p.His231=) c.1181A= (p.His394=) c.778A= (n.778A=) c.527A= (p.His176=) c.319+2286A= | |
11 | g.71435527G>A | CA6162272 | DHCR7 | c.1276C>T (p.His426Tyr) c.1102C>T (p.His368Tyr) c.1327C>T (p.His443Tyr) c.1312C>T (p.His438Tyr) c.*39C>T (n.*39C>T) n.1316C>T c.691C>T (p.His231Tyr) c.1180C>T (p.His394Tyr) c.777C>T (n.777C>T) c.526C>T (p.His176Tyr) c.319+2285C>T | dbSNP ExAC gnomAD v2 |
11 | g.71435527G>C | CA381701130 | DHCR7 | c.1276C>G (p.His426Asp) c.1102C>G (p.His368Asp) c.1327C>G (p.His443Asp) c.1312C>G (p.His438Asp) c.*39C>G (n.*39C>G) n.1316C>G c.691C>G (p.His231Asp) c.1180C>G (p.His394Asp) c.777C>G (n.777C>G) c.526C>G (p.His176Asp) c.319+2285C>G | |
11 | g.71435527G= | CA1981486867 | DHCR7 | c.1276C= (p.His426=) c.1102C= (p.His368=) c.1327C= (p.His443=) c.1312C= (p.His438=) c.*39C= (n.*39C=) n.1316C= c.691C= (p.His231=) c.1180C= (p.His394=) c.777C= (n.777C=) c.526C= (p.His176=) c.319+2285C= | |
11 | g.71435527G>T | CA381701135 | DHCR7 | c.1276C>A (p.His426Asn) c.1102C>A (p.His368Asn) c.1327C>A (p.His443Asn) c.1312C>A (p.His438Asn) c.*39C>A (n.*39C>A) n.1316C>A c.691C>A (p.His231Asn) c.1180C>A (p.His394Asn) c.777C>A (n.777C>A) c.526C>A (p.His176Asn) c.319+2285C>A | |
11 | g.71435528dup | CA2839231215 | DHCR7 | c.1276dup (p.His426ProfsTer?) c.1102dup (p.His368ProfsTer?) c.1327dup (p.His443ProfsTer?) c.1312dup (p.His438ProfsTer?) c.*39dup (n.*39dup) n.1316dup c.691dup (p.His231ProfsTer?) c.1180dup (p.His394ProfsTer?) c.777dup (n.777dup) c.526dup (p.His176ProfsTer?) c.319+2285dup | |
11 | g.71435528G>A | CA475860962 | DHCR7 | c.1275C>T (p.Gly425=) c.1101C>T (p.Gly367=) c.1326C>T (p.Gly442=) c.1311C>T (p.Gly437=) c.*38C>T (n.*38C>T) n.1315C>T c.690C>T (p.Gly230=) c.1179C>T (p.Gly393=) c.776C>T (n.776C>T) c.525C>T (p.Gly175=) c.319+2284C>T | gnomAD v4 |
11 | g.71435528G>C | CA475860963 | DHCR7 | c.1275C>G (p.Gly425=) c.1101C>G (p.Gly367=) c.1326C>G (p.Gly442=) c.1311C>G (p.Gly437=) c.*38C>G (n.*38C>G) n.1315C>G c.690C>G (p.Gly230=) c.1179C>G (p.Gly393=) c.776C>G (n.776C>G) c.525C>G (p.Gly175=) c.319+2284C>G | |
11 | g.71435528G= | CA1981486868 | DHCR7 | c.1275C= (p.Gly425=) c.1101C= (p.Gly367=) c.1326C= (p.Gly442=) c.1311C= (p.Gly437=) c.*38C= (n.*38C=) n.1315C= c.690C= (p.Gly230=) c.1179C= (p.Gly393=) c.776C= (n.776C=) c.525C= (p.Gly175=) c.319+2284C= | |
11 | g.71435528G>T | CA475860964 | DHCR7 | c.1275C>A (p.Gly425=) c.1101C>A (p.Gly367=) c.1326C>A (p.Gly442=) c.1311C>A (p.Gly437=) c.*38C>A (n.*38C>A) n.1315C>A c.690C>A (p.Gly230=) c.1179C>A (p.Gly393=) c.776C>A (n.776C>A) c.525C>A (p.Gly175=) c.319+2284C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435529C>A | CA381701139 | DHCR7 | c.1274G>T (p.Gly425Val) c.1100G>T (p.Gly367Val) c.1325G>T (p.Gly442Val) c.1310G>T (p.Gly437Val) c.*37G>T (n.*37G>T) n.1314G>T c.689G>T (p.Gly230Val) c.1178G>T (p.Gly393Val) c.775G>T (n.775G>T) c.524G>T (p.Gly175Val) c.319+2283G>T | |
11 | g.71435529C= | CA1981486870 | DHCR7 | c.1274G= (p.Gly425=) c.1100G= (p.Gly367=) c.1325G= (p.Gly442=) c.1310G= (p.Gly437=) c.*37G= (n.*37G=) n.1314G= c.689G= (p.Gly230=) c.1178G= (p.Gly393=) c.775G= (n.775G=) c.524G= (p.Gly175=) c.319+2283G= | |
11 | g.71435529C>G | CA381701143 | DHCR7 | c.1274G>C (p.Gly425Ala) c.1100G>C (p.Gly367Ala) c.1325G>C (p.Gly442Ala) c.1310G>C (p.Gly437Ala) c.*37G>C (n.*37G>C) n.1314G>C c.689G>C (p.Gly230Ala) c.1178G>C (p.Gly393Ala) c.775G>C (n.775G>C) c.524G>C (p.Gly175Ala) c.319+2283G>C | |
11 | g.71435529C>T | CA381701142 | DHCR7 | c.1274G>A (p.Gly425Asp) c.1100G>A (p.Gly367Asp) c.1325G>A (p.Gly442Asp) c.1310G>A (p.Gly437Asp) c.*37G>A (n.*37G>A) n.1314G>A c.689G>A (p.Gly230Asp) c.1178G>A (p.Gly393Asp) c.775G>A (n.775G>A) c.524G>A (p.Gly175Asp) c.319+2283G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435529_71435531delinsCCG | CA1981486869 | DHCR7 | c.1272_1274delinsCGG (p.Gly424=) c.1098_1100delinsCGG (p.Gly366=) c.1323_1325delinsCGG (p.Gly441=) c.1308_1310delinsCGG (p.Gly436=) c.*35_*37delinsCGG (n.*35_*37delinsCGG) n.1312_1314delinsCGG c.687_689delinsCGG (p.Gly229=) c.1176_1178delinsCGG (p.Gly392=) c.773_775delinsCGG (n.773_775delinsCGG) c.522_524delinsCGG (p.Gly174=) c.319+2281_319+2283delinsCGG | |
11 | g.71435530C>A | CA381701145 | DHCR7 | c.1273G>T (p.Gly425Cys) c.1099G>T (p.Gly367Cys) c.1324G>T (p.Gly442Cys) c.1309G>T (p.Gly437Cys) c.*36G>T (n.*36G>T) n.1313G>T c.688G>T (p.Gly230Cys) c.1177G>T (p.Gly393Cys) c.774G>T (n.774G>T) c.523G>T (p.Gly175Cys) c.319+2282G>T | |
11 | g.71435530C= | CA1981486871 | DHCR7 | c.1273G= (p.Gly425=) c.1099G= (p.Gly367=) c.1324G= (p.Gly442=) c.1309G= (p.Gly437=) c.*36G= (n.*36G=) n.1313G= c.688G= (p.Gly230=) c.1177G= (p.Gly393=) c.774G= (n.774G=) c.523G= (p.Gly175=) c.319+2282G= | |
11 | g.71435530C>G | CA381701147 | DHCR7 | c.1273G>C (p.Gly425Arg) c.1099G>C (p.Gly367Arg) c.1324G>C (p.Gly442Arg) c.1309G>C (p.Gly437Arg) c.*36G>C (n.*36G>C) n.1313G>C c.688G>C (p.Gly230Arg) c.1177G>C (p.Gly393Arg) c.774G>C (n.774G>C) c.523G>C (p.Gly175Arg) c.319+2282G>C | |
11 | g.71435530C>T | CA6162273 | DHCR7 | c.1273G>A (p.Gly425Ser) c.1099G>A (p.Gly367Ser) c.1324G>A (p.Gly442Ser) c.1309G>A (p.Gly437Ser) c.*36G>A (n.*36G>A) n.1313G>A c.688G>A (p.Gly230Ser) c.1177G>A (p.Gly393Ser) c.774G>A (n.774G>A) c.523G>A (p.Gly175Ser) c.319+2282G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435530_71435531delinsT | CA224324057 | DHCR7 | c.1272_1273delinsA (p.Gly425AlafsTer16) c.1098_1099delinsA (p.Gly367AlafsTer16) c.1323_1324delinsA (p.Gly442AlafsTer16) c.1308_1309delinsA (p.Gly437AlafsTer16) c.*35_*36delinsA (n.*35_*36delinsA) n.1312_1313delinsA c.687_688delinsA (p.Gly230AlafsTer16) c.1176_1177delinsA (p.Gly393AlafsTer16) c.773_774delinsA (n.773_774delinsA) c.522_523delinsA (p.Gly175AlafsTer16) c.319+2281_319+2282delinsA | dbSNP |
11 | g.71435530_71435531delinsCG | CA1981486872 | DHCR7 | c.1272_1273delinsCG (p.Gly424=) c.1098_1099delinsCG (p.Gly366=) c.1323_1324delinsCG (p.Gly441=) c.1308_1309delinsCG (p.Gly436=) c.*35_*36delinsCG (n.*35_*36delinsCG) n.1312_1313delinsCG c.687_688delinsCG (p.Gly229=) c.1176_1177delinsCG (p.Gly392=) c.773_774delinsCG (n.773_774delinsCG) c.522_523delinsCG (p.Gly174=) c.319+2281_319+2282delinsCG | |
11 | g.71435531del | CA224324067 | DHCR7 | c.1272del (p.Gly425AlafsTer16) c.1098del (p.Gly367AlafsTer16) c.1323del (p.Gly442AlafsTer16) c.1308del (p.Gly437AlafsTer16) c.*35del (n.*35del) n.1312del c.687del (p.Gly230AlafsTer16) c.1176del (p.Gly393AlafsTer16) c.773del (n.773del) c.522del (p.Gly175AlafsTer16) c.319+2281del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435531G>A | CA147233 | DHCR7 | c.1272C>T (p.Gly424=) c.1098C>T (p.Gly366=) c.1323C>T (p.Gly441=) c.1308C>T (p.Gly436=) c.*35C>T (n.*35C>T) n.1312C>T c.687C>T (p.Gly229=) c.1176C>T (p.Gly392=) c.773C>T (n.773C>T) c.522C>T (p.Gly174=) c.319+2281C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435531G>C | CA475860971 | DHCR7 | c.1272C>G (p.Gly424=) c.1098C>G (p.Gly366=) c.1323C>G (p.Gly441=) c.1308C>G (p.Gly436=) c.*35C>G (n.*35C>G) n.1312C>G c.687C>G (p.Gly229=) c.1176C>G (p.Gly392=) c.773C>G (n.773C>G) c.522C>G (p.Gly174=) c.319+2281C>G | dbSNP gnomAD v4 |
11 | g.71435531G= | CA1630855225 | DHCR7 | c.1272C= (p.Gly424=) c.1098C= (p.Gly366=) c.1323C= (p.Gly441=) c.1308C= (p.Gly436=) c.*35C= (n.*35C=) n.1312C= c.687C= (p.Gly229=) c.1176C= (p.Gly392=) c.773C= (n.773C=) c.522C= (p.Gly174=) c.319+2281C= | |
11 | g.71435531G>T | CA475860973 | DHCR7 | c.1272C>A (p.Gly424=) c.1098C>A (p.Gly366=) c.1323C>A (p.Gly441=) c.1308C>A (p.Gly436=) c.*35C>A (n.*35C>A) n.1312C>A c.687C>A (p.Gly229=) c.1176C>A (p.Gly392=) c.773C>A (n.773C>A) c.522C>A (p.Gly174=) c.319+2281C>A | |
11 | g.71435532C>A | CA381701158 | DHCR7 | c.1271G>T (p.Gly424Val) c.1097G>T (p.Gly366Val) c.1322G>T (p.Gly441Val) c.1307G>T (p.Gly436Val) c.*34G>T (n.*34G>T) n.1311G>T c.686G>T (p.Gly229Val) c.1175G>T (p.Gly392Val) c.772G>T (n.772G>T) c.521G>T (p.Gly174Val) c.319+2280G>T | gnomAD v4 |
11 | g.71435532C>G | CA381701160 | DHCR7 | c.1271G>C (p.Gly424Ala) c.1097G>C (p.Gly366Ala) c.1322G>C (p.Gly441Ala) c.1307G>C (p.Gly436Ala) c.*34G>C (n.*34G>C) n.1311G>C c.686G>C (p.Gly229Ala) c.1175G>C (p.Gly392Ala) c.772G>C (n.772G>C) c.521G>C (p.Gly174Ala) c.319+2280G>C | gnomAD v4 |
11 | g.71435532C>T | CA381701163 | DHCR7 | c.1271G>A (p.Gly424Asp) c.1097G>A (p.Gly366Asp) c.1322G>A (p.Gly441Asp) c.1307G>A (p.Gly436Asp) c.*34G>A (n.*34G>A) n.1311G>A c.686G>A (p.Gly229Asp) c.1175G>A (p.Gly392Asp) c.772G>A (n.772G>A) c.521G>A (p.Gly174Asp) c.319+2280G>A | gnomAD v4 |
11 | g.71435533C>A | CA6162274 | DHCR7 | c.1270G>T (p.Gly424Cys) c.1096G>T (p.Gly366Cys) c.1321G>T (p.Gly441Cys) c.1306G>T (p.Gly436Cys) c.*33G>T (n.*33G>T) n.1310G>T c.685G>T (p.Gly229Cys) c.1174G>T (p.Gly392Cys) c.771G>T (n.771G>T) c.520G>T (p.Gly174Cys) c.319+2279G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435533C= | CA1981486873 | DHCR7 | c.1270G= (p.Gly424=) c.1096G= (p.Gly366=) c.1321G= (p.Gly441=) c.1306G= (p.Gly436=) c.*33G= (n.*33G=) n.1310G= c.685G= (p.Gly229=) c.1174G= (p.Gly392=) c.771G= (n.771G=) c.520G= (p.Gly174=) c.319+2279G= | |
11 | g.71435533C>G | CA381701170 | DHCR7 | c.1270G>C (p.Gly424Arg) c.1096G>C (p.Gly366Arg) c.1321G>C (p.Gly441Arg) c.1306G>C (p.Gly436Arg) c.*33G>C (n.*33G>C) n.1310G>C c.685G>C (p.Gly229Arg) c.1174G>C (p.Gly392Arg) c.771G>C (n.771G>C) c.520G>C (p.Gly174Arg) c.319+2279G>C | |
11 | g.71435533C>T | CA248059 | DHCR7 | c.1270G>A (p.Gly424Ser) c.1096G>A (p.Gly366Ser) c.1321G>A (p.Gly441Ser) c.1306G>A (p.Gly436Ser) c.*33G>A (n.*33G>A) n.1310G>A c.685G>A (p.Gly229Ser) c.1174G>A (p.Gly392Ser) c.771G>A (n.771G>A) c.520G>A (p.Gly174Ser) c.319+2279G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71435534G>A | CA6162275 | DHCR7 | c.1269C>T (p.Gly423=) c.1095C>T (p.Gly365=) c.1320C>T (p.Gly440=) c.1305C>T (p.Gly435=) c.*32C>T (n.*32C>T) n.1309C>T c.684C>T (p.Gly228=) c.1173C>T (p.Gly391=) c.770C>T (n.770C>T) c.519C>T (p.Gly173=) c.319+2278C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435534G>C | CA475860977 | DHCR7 | c.1269C>G (p.Gly423=) c.1095C>G (p.Gly365=) c.1320C>G (p.Gly440=) c.1305C>G (p.Gly435=) c.*32C>G (n.*32C>G) n.1309C>G c.684C>G (p.Gly228=) c.1173C>G (p.Gly391=) c.770C>G (n.770C>G) c.519C>G (p.Gly173=) c.319+2278C>G | |
11 | g.71435534G= | CA1981486874 | DHCR7 | c.1269C= (p.Gly423=) c.1095C= (p.Gly365=) c.1320C= (p.Gly440=) c.1305C= (p.Gly435=) c.*32C= (n.*32C=) n.1309C= c.684C= (p.Gly228=) c.1173C= (p.Gly391=) c.770C= (n.770C=) c.519C= (p.Gly173=) c.319+2278C= | |
11 | g.71435534G>T | CA475860978 | DHCR7 | c.1269C>A (p.Gly423=) c.1095C>A (p.Gly365=) c.1320C>A (p.Gly440=) c.1305C>A (p.Gly435=) c.*32C>A (n.*32C>A) n.1309C>A c.684C>A (p.Gly228=) c.1173C>A (p.Gly391=) c.770C>A (n.770C>A) c.519C>A (p.Gly173=) c.319+2278C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435535C>A | CA381701179 | DHCR7 | c.1268G>T (p.Gly423Val) c.1094G>T (p.Gly365Val) c.1319G>T (p.Gly440Val) c.1304G>T (p.Gly435Val) c.*31G>T (n.*31G>T) n.1308G>T c.683G>T (p.Gly228Val) c.1172G>T (p.Gly391Val) c.769G>T (n.769G>T) c.518G>T (p.Gly173Val) c.319+2277G>T | |
11 | g.71435535C>G | CA381701180 | DHCR7 | c.1268G>C (p.Gly423Ala) c.1094G>C (p.Gly365Ala) c.1319G>C (p.Gly440Ala) c.1304G>C (p.Gly435Ala) c.*31G>C (n.*31G>C) n.1308G>C c.683G>C (p.Gly228Ala) c.1172G>C (p.Gly391Ala) c.769G>C (n.769G>C) c.518G>C (p.Gly173Ala) c.319+2277G>C | |
11 | g.71435535C>T | CA381701176 | DHCR7 | c.1268G>A (p.Gly423Asp) c.1094G>A (p.Gly365Asp) c.1319G>A (p.Gly440Asp) c.1304G>A (p.Gly435Asp) c.*31G>A (n.*31G>A) n.1308G>A c.683G>A (p.Gly228Asp) c.1172G>A (p.Gly391Asp) c.769G>A (n.769G>A) c.518G>A (p.Gly173Asp) c.319+2277G>A | |
11 | g.71435536C>A | CA381701189 | DHCR7 | c.1267G>T (p.Gly423Cys) c.1093G>T (p.Gly365Cys) c.1318G>T (p.Gly440Cys) c.1303G>T (p.Gly435Cys) c.*30G>T (n.*30G>T) n.1307G>T c.682G>T (p.Gly228Cys) c.1171G>T (p.Gly391Cys) c.768G>T (n.768G>T) c.517G>T (p.Gly173Cys) c.319+2276G>T | |
11 | g.71435536C= | CA1981486875 | DHCR7 | c.1267G= (p.Gly423=) c.1093G= (p.Gly365=) c.1318G= (p.Gly440=) c.1303G= (p.Gly435=) c.*30G= (n.*30G=) n.1307G= c.682G= (p.Gly228=) c.1171G= (p.Gly391=) c.768G= (n.768G=) c.517G= (p.Gly173=) c.319+2276G= | |
11 | g.71435536C>G | CA381701184 | DHCR7 | c.1267G>C (p.Gly423Arg) c.1093G>C (p.Gly365Arg) c.1318G>C (p.Gly440Arg) c.1303G>C (p.Gly435Arg) c.*30G>C (n.*30G>C) n.1307G>C c.682G>C (p.Gly228Arg) c.1171G>C (p.Gly391Arg) c.768G>C (n.768G>C) c.517G>C (p.Gly173Arg) c.319+2276G>C | |
11 | g.71435536C>T | CA16619401 | DHCR7 | c.1267G>A (p.Gly423Ser) c.1093G>A (p.Gly365Ser) c.1318G>A (p.Gly440Ser) c.1303G>A (p.Gly435Ser) c.*30G>A (n.*30G>A) n.1307G>A c.682G>A (p.Gly228Ser) c.1171G>A (p.Gly391Ser) c.768G>A (n.768G>A) c.517G>A (p.Gly173Ser) c.319+2276G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71435538_71435539del | CA2839231218 | DHCR7 | c.1266_1267del (p.Cys422TrpfsTer?) c.1092_1093del (p.Cys364TrpfsTer?) c.1317_1318del (p.Cys439TrpfsTer?) c.1302_1303del (p.Cys434TrpfsTer?) c.*29_*30del (n.*29_*30del) n.1306_1307del c.681_682del (p.Cys227TrpfsTer?) c.1170_1171del (p.Cys390TrpfsTer?) c.767_768del (n.767_768del) c.516_517del (p.Cys172TrpfsTer?) c.319+2275_319+2276del | |
11 | g.71435537A>C | CA381701191 | DHCR7 | c.1266T>G (p.Cys422Trp) c.1092T>G (p.Cys364Trp) c.1317T>G (p.Cys439Trp) c.1302T>G (p.Cys434Trp) c.*29T>G (n.*29T>G) n.1306T>G c.681T>G (p.Cys227Trp) c.1170T>G (p.Cys390Trp) c.767T>G (n.767T>G) c.516T>G (p.Cys172Trp) c.319+2275T>G | |
11 | g.71435537A>G | CA475860984 | DHCR7 | c.1266T>C (p.Cys422=) c.1092T>C (p.Cys364=) c.1317T>C (p.Cys439=) c.1302T>C (p.Cys434=) c.*29T>C (n.*29T>C) n.1306T>C c.681T>C (p.Cys227=) c.1170T>C (p.Cys390=) c.767T>C (n.767T>C) c.516T>C (p.Cys172=) c.319+2275T>C | dbSNP |
11 | g.71435537A>T | CA381701194 | DHCR7 | c.1266T>A (p.Cys422Ter) c.1092T>A (p.Cys364Ter) c.1317T>A (p.Cys439Ter) c.1302T>A (p.Cys434Ter) c.*29T>A (n.*29T>A) n.1306T>A c.681T>A (p.Cys227Ter) c.1170T>A (p.Cys390Ter) c.767T>A (n.767T>A) c.516T>A (p.Cys172Ter) c.319+2275T>A | |
11 | g.71435538C>A | CA381701197 | DHCR7 | c.1265G>T (p.Cys422Phe) c.1091G>T (p.Cys364Phe) c.1316G>T (p.Cys439Phe) c.1301G>T (p.Cys434Phe) c.*28G>T (n.*28G>T) n.1305G>T c.680G>T (p.Cys227Phe) c.1169G>T (p.Cys390Phe) c.766G>T (n.766G>T) c.515G>T (p.Cys172Phe) c.319+2274G>T | |
11 | g.71435538C>G | CA381701200 | DHCR7 | c.1265G>C (p.Cys422Ser) c.1091G>C (p.Cys364Ser) c.1316G>C (p.Cys439Ser) c.1301G>C (p.Cys434Ser) c.*28G>C (n.*28G>C) n.1305G>C c.680G>C (p.Cys227Ser) c.1169G>C (p.Cys390Ser) c.766G>C (n.766G>C) c.515G>C (p.Cys172Ser) c.319+2274G>C | |
11 | g.71435538C>T | CA381701201 | DHCR7 | c.1265G>A (p.Cys422Tyr) c.1091G>A (p.Cys364Tyr) c.1316G>A (p.Cys439Tyr) c.1301G>A (p.Cys434Tyr) c.*28G>A (n.*28G>A) n.1305G>A c.680G>A (p.Cys227Tyr) c.1169G>A (p.Cys390Tyr) c.766G>A (n.766G>A) c.515G>A (p.Cys172Tyr) c.319+2274G>A | |
11 | g.71435539A= | CA1981486876 | DHCR7 | c.1264T= (p.Cys422=) c.1090T= (p.Cys364=) c.1315T= (p.Cys439=) c.1300T= (p.Cys434=) c.*27T= (n.*27T=) n.1304T= c.679T= (p.Cys227=) c.1168T= (p.Cys390=) c.765T= (n.765T=) c.514T= (p.Cys172=) c.319+2273T= | |
11 | g.71435539A>C | CA381701202 | DHCR7 | c.1264T>G (p.Cys422Gly) c.1090T>G (p.Cys364Gly) c.1315T>G (p.Cys439Gly) c.1300T>G (p.Cys434Gly) c.*27T>G (n.*27T>G) n.1304T>G c.679T>G (p.Cys227Gly) c.1168T>G (p.Cys390Gly) c.765T>G (n.765T>G) c.514T>G (p.Cys172Gly) c.319+2273T>G | |
11 | g.71435539A>G | CA6162276 | DHCR7 | c.1264T>C (p.Cys422Arg) c.1090T>C (p.Cys364Arg) c.1315T>C (p.Cys439Arg) c.1300T>C (p.Cys434Arg) c.*27T>C (n.*27T>C) n.1304T>C c.679T>C (p.Cys227Arg) c.1168T>C (p.Cys390Arg) c.765T>C (n.765T>C) c.514T>C (p.Cys172Arg) c.319+2273T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435539A>T | CA381701208 | DHCR7 | c.1264T>A (p.Cys422Ser) c.1090T>A (p.Cys364Ser) c.1315T>A (p.Cys439Ser) c.1300T>A (p.Cys434Ser) c.*27T>A (n.*27T>A) n.1304T>A c.679T>A (p.Cys227Ser) c.1168T>A (p.Cys390Ser) c.765T>A (n.765T>A) c.514T>A (p.Cys172Ser) c.319+2273T>A | |
11 | g.71435548_71435559del | CA2529363413 | DHCR7 | c.1253_1264del (p.Tyr418_Ala421del) c.1079_1090del (p.Tyr360_Ala363del) c.1304_1315del (p.Tyr435_Ala438del) c.1289_1300del (p.Tyr430_Ala433del) c.*16_*27del (n.*16_*27del) n.1293_1304del c.668_679del (p.Tyr223_Ala226del) c.1157_1168del (p.Tyr386_Ala389del) c.754_765del (n.754_765del) c.503_514del (p.Tyr168_Ala171del) c.319+2262_319+2273del | |
11 | g.71435540G>A | CA475860988 | DHCR7 | c.1263C>T (p.Ala421=) c.1089C>T (p.Ala363=) c.1314C>T (p.Ala438=) c.1299C>T (p.Ala433=) c.*26C>T (n.*26C>T) n.1303C>T c.678C>T (p.Ala226=) c.1167C>T (p.Ala389=) c.764C>T (n.764C>T) c.513C>T (p.Ala171=) c.319+2272C>T | |
11 | g.71435540G>C | CA475860990 | DHCR7 | c.1263C>G (p.Ala421=) c.1089C>G (p.Ala363=) c.1314C>G (p.Ala438=) c.1299C>G (p.Ala433=) c.*26C>G (n.*26C>G) n.1303C>G c.678C>G (p.Ala226=) c.1167C>G (p.Ala389=) c.764C>G (n.764C>G) c.513C>G (p.Ala171=) c.319+2272C>G | |
11 | g.71435540G>T | CA475860986 | DHCR7 | c.1263C>A (p.Ala421=) c.1089C>A (p.Ala363=) c.1314C>A (p.Ala438=) c.1299C>A (p.Ala433=) c.*26C>A (n.*26C>A) n.1303C>A c.678C>A (p.Ala226=) c.1167C>A (p.Ala389=) c.764C>A (n.764C>A) c.513C>A (p.Ala171=) c.319+2272C>A | gnomAD v4 |
11 | g.71435541G>A | CA381701216 | DHCR7 | c.1262C>T (p.Ala421Val) c.1088C>T (p.Ala363Val) c.1313C>T (p.Ala438Val) c.1298C>T (p.Ala433Val) c.*25C>T (n.*25C>T) n.1302C>T c.677C>T (p.Ala226Val) c.1166C>T (p.Ala389Val) c.763C>T (n.763C>T) c.512C>T (p.Ala171Val) c.319+2271C>T | gnomAD v4 |
11 | g.71435541G>C | CA381701219 | DHCR7 | c.1262C>G (p.Ala421Gly) c.1088C>G (p.Ala363Gly) c.1313C>G (p.Ala438Gly) c.1298C>G (p.Ala433Gly) c.*25C>G (n.*25C>G) n.1302C>G c.677C>G (p.Ala226Gly) c.1166C>G (p.Ala389Gly) c.763C>G (n.763C>G) c.512C>G (p.Ala171Gly) c.319+2271C>G | |
11 | g.71435541G>T | CA381701220 | DHCR7 | c.1262C>A (p.Ala421Asp) c.1088C>A (p.Ala363Asp) c.1313C>A (p.Ala438Asp) c.1298C>A (p.Ala433Asp) c.*25C>A (n.*25C>A) n.1302C>A c.677C>A (p.Ala226Asp) c.1166C>A (p.Ala389Asp) c.763C>A (n.763C>A) c.512C>A (p.Ala171Asp) c.319+2271C>A | gnomAD v4 |
11 | g.71435542C>A | CA381701227 | DHCR7 | c.1261G>T (p.Ala421Ser) c.1087G>T (p.Ala363Ser) c.1312G>T (p.Ala438Ser) c.1297G>T (p.Ala433Ser) c.*24G>T (n.*24G>T) n.1301G>T c.676G>T (p.Ala226Ser) c.1165G>T (p.Ala389Ser) c.762G>T (n.762G>T) c.511G>T (p.Ala171Ser) c.319+2270G>T | |
11 | g.71435542C>G | CA381701223 | DHCR7 | c.1261G>C (p.Ala421Pro) c.1087G>C (p.Ala363Pro) c.1312G>C (p.Ala438Pro) c.1297G>C (p.Ala433Pro) c.*24G>C (n.*24G>C) n.1301G>C c.676G>C (p.Ala226Pro) c.1165G>C (p.Ala389Pro) c.762G>C (n.762G>C) c.511G>C (p.Ala171Pro) c.319+2270G>C | |
11 | g.71435542C>T | CA381701225 | DHCR7 | c.1261G>A (p.Ala421Thr) c.1087G>A (p.Ala363Thr) c.1312G>A (p.Ala438Thr) c.1297G>A (p.Ala433Thr) c.*24G>A (n.*24G>A) n.1301G>A c.676G>A (p.Ala226Thr) c.1165G>A (p.Ala389Thr) c.762G>A (n.762G>A) c.511G>A (p.Ala171Thr) c.319+2270G>A | |
11 | g.71435543C>A | CA475860992 | DHCR7 | c.1260G>T (p.Leu420=) c.1086G>T (p.Leu362=) c.1311G>T (p.Leu437=) c.1296G>T (p.Leu432=) c.*23G>T (n.*23G>T) n.1300G>T c.675G>T (p.Leu225=) c.1164G>T (p.Leu388=) c.761G>T (n.761G>T) c.510G>T (p.Leu170=) c.319+2269G>T | COSMIC COSMIC |
11 | g.71435543C= | CA1981486877 | DHCR7 | c.1260G= (p.Leu420=) c.1086G= (p.Leu362=) c.1311G= (p.Leu437=) c.1296G= (p.Leu432=) c.*23G= (n.*23G=) n.1300G= c.675G= (p.Leu225=) c.1164G= (p.Leu388=) c.761G= (n.761G=) c.510G= (p.Leu170=) c.319+2269G= | |
11 | g.71435543C>G | CA475860991 | DHCR7 | c.1260G>C (p.Leu420=) c.1086G>C (p.Leu362=) c.1311G>C (p.Leu437=) c.1296G>C (p.Leu432=) c.*23G>C (n.*23G>C) n.1300G>C c.675G>C (p.Leu225=) c.1164G>C (p.Leu388=) c.761G>C (n.761G>C) c.510G>C (p.Leu170=) c.319+2269G>C | |
11 | g.71435543C>T | CA6162277 | DHCR7 | c.1260G>A (p.Leu420=) c.1086G>A (p.Leu362=) c.1311G>A (p.Leu437=) c.1296G>A (p.Leu432=) c.*23G>A (n.*23G>A) n.1300G>A c.675G>A (p.Leu225=) c.1164G>A (p.Leu388=) c.761G>A (n.761G>A) c.510G>A (p.Leu170=) c.319+2269G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435544A>C | CA381701231 | DHCR7 | c.1259T>G (p.Leu420Arg) c.1085T>G (p.Leu362Arg) c.1310T>G (p.Leu437Arg) c.1295T>G (p.Leu432Arg) c.*22T>G (n.*22T>G) n.1299T>G c.674T>G (p.Leu225Arg) c.1163T>G (p.Leu388Arg) c.760T>G (n.760T>G) c.509T>G (p.Leu170Arg) c.319+2268T>G | |
11 | g.71435544A>G | CA381701237 | DHCR7 | c.1259T>C (p.Leu420Pro) c.1085T>C (p.Leu362Pro) c.1310T>C (p.Leu437Pro) c.1295T>C (p.Leu432Pro) c.*22T>C (n.*22T>C) n.1299T>C c.674T>C (p.Leu225Pro) c.1163T>C (p.Leu388Pro) c.760T>C (n.760T>C) c.509T>C (p.Leu170Pro) c.319+2268T>C | gnomAD v4 |
11 | g.71435544A>T | CA381701239 | DHCR7 | c.1259T>A (p.Leu420Gln) c.1085T>A (p.Leu362Gln) c.1310T>A (p.Leu437Gln) c.1295T>A (p.Leu432Gln) c.*22T>A (n.*22T>A) n.1299T>A c.674T>A (p.Leu225Gln) c.1163T>A (p.Leu388Gln) c.760T>A (n.760T>A) c.509T>A (p.Leu170Gln) c.319+2268T>A | |
11 | g.71435545G>A | CA475860993 | DHCR7 | c.1258C>T (p.Leu420=) c.1084C>T (p.Leu362=) c.1309C>T (p.Leu437=) c.1294C>T (p.Leu432=) c.*21C>T (n.*21C>T) n.1298C>T c.673C>T (p.Leu225=) c.1162C>T (p.Leu388=) c.759C>T (n.759C>T) c.508C>T (p.Leu170=) c.319+2267C>T | |
11 | g.71435545G>C | CA381701242 | DHCR7 | c.1258C>G (p.Leu420Val) c.1084C>G (p.Leu362Val) c.1309C>G (p.Leu437Val) c.1294C>G (p.Leu432Val) c.*21C>G (n.*21C>G) n.1298C>G c.673C>G (p.Leu225Val) c.1162C>G (p.Leu388Val) c.759C>G (n.759C>G) c.508C>G (p.Leu170Val) c.319+2267C>G | |
11 | g.71435545G>T | CA381701243 | DHCR7 | c.1258C>A (p.Leu420Met) c.1084C>A (p.Leu362Met) c.1309C>A (p.Leu437Met) c.1294C>A (p.Leu432Met) c.*21C>A (n.*21C>A) n.1298C>A c.673C>A (p.Leu225Met) c.1162C>A (p.Leu388Met) c.759C>A (n.759C>A) c.508C>A (p.Leu170Met) c.319+2267C>A | |
11 | g.71435546G>A | CA475860994 | DHCR7 | c.1257C>T (p.Cys419=) c.1083C>T (p.Cys361=) c.1308C>T (p.Cys436=) c.1293C>T (p.Cys431=) c.*20C>T (n.*20C>T) n.1297C>T c.672C>T (p.Cys224=) c.1161C>T (p.Cys387=) c.758C>T (n.758C>T) c.507C>T (p.Cys169=) c.319+2266C>T | |
11 | g.71435546G>C | CA381701245 | DHCR7 | c.1257C>G (p.Cys419Trp) c.1083C>G (p.Cys361Trp) c.1308C>G (p.Cys436Trp) c.1293C>G (p.Cys431Trp) c.*20C>G (n.*20C>G) n.1297C>G c.672C>G (p.Cys224Trp) c.1161C>G (p.Cys387Trp) c.758C>G (n.758C>G) c.507C>G (p.Cys169Trp) c.319+2266C>G | |
11 | g.71435546G>T | CA381701246 | DHCR7 | c.1257C>A (p.Cys419Ter) c.1083C>A (p.Cys361Ter) c.1308C>A (p.Cys436Ter) c.1293C>A (p.Cys431Ter) c.*20C>A (n.*20C>A) n.1297C>A c.672C>A (p.Cys224Ter) c.1161C>A (p.Cys387Ter) c.758C>A (n.758C>A) c.507C>A (p.Cys169Ter) c.319+2266C>A | |
11 | g.71435547C>A | CA381701249 | DHCR7 | c.1256G>T (p.Cys419Phe) c.1082G>T (p.Cys361Phe) c.1307G>T (p.Cys436Phe) c.1292G>T (p.Cys431Phe) c.*19G>T (n.*19G>T) n.1296G>T c.671G>T (p.Cys224Phe) c.1160G>T (p.Cys387Phe) c.757G>T (n.757G>T) c.506G>T (p.Cys169Phe) c.319+2265G>T | gnomAD v4 |
11 | g.71435547C= | CA1981486878 | DHCR7 | c.1256G= (p.Cys419=) c.1082G= (p.Cys361=) c.1307G= (p.Cys436=) c.1292G= (p.Cys431=) c.*19G= (n.*19G=) n.1296G= c.671G= (p.Cys224=) c.1160G= (p.Cys387=) c.757G= (n.757G=) c.506G= (p.Cys169=) c.319+2265G= | |
11 | g.71435547C>G | CA381701250 | DHCR7 | c.1256G>C (p.Cys419Ser) c.1082G>C (p.Cys361Ser) c.1307G>C (p.Cys436Ser) c.1292G>C (p.Cys431Ser) c.*19G>C (n.*19G>C) n.1296G>C c.671G>C (p.Cys224Ser) c.1160G>C (p.Cys387Ser) c.757G>C (n.757G>C) c.506G>C (p.Cys169Ser) c.319+2265G>C | |
11 | g.71435547C>T | CA381701252 | DHCR7 | c.1256G>A (p.Cys419Tyr) c.1082G>A (p.Cys361Tyr) c.1307G>A (p.Cys436Tyr) c.1292G>A (p.Cys431Tyr) c.*19G>A (n.*19G>A) n.1296G>A c.671G>A (p.Cys224Tyr) c.1160G>A (p.Cys387Tyr) c.757G>A (n.757G>A) c.506G>A (p.Cys169Tyr) c.319+2265G>A | dbSNP gnomAD v4 |
11 | g.71435548A= | CA1981486879 | DHCR7 | c.1255T= (p.Cys419=) c.1081T= (p.Cys361=) c.1306T= (p.Cys436=) c.1291T= (p.Cys431=) c.*18T= (n.*18T=) n.1295T= c.670T= (p.Cys224=) c.1159T= (p.Cys387=) c.756T= (n.756T=) c.505T= (p.Cys169=) c.319+2264T= | |
11 | g.71435548A>C | CA381701256 | DHCR7 | c.1255T>G (p.Cys419Gly) c.1081T>G (p.Cys361Gly) c.1306T>G (p.Cys436Gly) c.1291T>G (p.Cys431Gly) c.*18T>G (n.*18T>G) n.1295T>G c.670T>G (p.Cys224Gly) c.1159T>G (p.Cys387Gly) c.756T>G (n.756T>G) c.505T>G (p.Cys169Gly) c.319+2264T>G | |
11 | g.71435548A>G | CA381701255 | DHCR7 | c.1255T>C (p.Cys419Arg) c.1081T>C (p.Cys361Arg) c.1306T>C (p.Cys436Arg) c.1291T>C (p.Cys431Arg) c.*18T>C (n.*18T>C) n.1295T>C c.670T>C (p.Cys224Arg) c.1159T>C (p.Cys387Arg) c.756T>C (n.756T>C) c.505T>C (p.Cys169Arg) c.319+2264T>C | gnomAD v4 |
11 | g.71435548A>T | CA381701254 | DHCR7 | c.1255T>A (p.Cys419Ser) c.1081T>A (p.Cys361Ser) c.1306T>A (p.Cys436Ser) c.1291T>A (p.Cys431Ser) c.*18T>A (n.*18T>A) n.1295T>A c.670T>A (p.Cys224Ser) c.1159T>A (p.Cys387Ser) c.756T>A (n.756T>A) c.505T>A (p.Cys169Ser) c.319+2264T>A | dbSNP gnomAD v4 |
11 | g.71435549G>A | CA475860997 | DHCR7 | c.1254C>T (p.Tyr418=) c.1080C>T (p.Tyr360=) c.1305C>T (p.Tyr435=) c.1290C>T (p.Tyr430=) c.*17C>T (n.*17C>T) n.1294C>T c.669C>T (p.Tyr223=) c.1158C>T (p.Tyr386=) c.755C>T (n.755C>T) c.504C>T (p.Tyr168=) c.319+2263C>T | ClinVar dbSNP gnomAD v4 |
11 | g.71435549G>C | CA381701257 | DHCR7 | c.1254C>G (p.Tyr418Ter) c.1080C>G (p.Tyr360Ter) c.1305C>G (p.Tyr435Ter) c.1290C>G (p.Tyr430Ter) c.*17C>G (n.*17C>G) n.1294C>G c.669C>G (p.Tyr223Ter) c.1158C>G (p.Tyr386Ter) c.755C>G (n.755C>G) c.504C>G (p.Tyr168Ter) c.319+2263C>G | |
11 | g.71435549G= | CA1981486880 | DHCR7 | c.1254C= (p.Tyr418=) c.1080C= (p.Tyr360=) c.1305C= (p.Tyr435=) c.1290C= (p.Tyr430=) c.*17C= (n.*17C=) n.1294C= c.669C= (p.Tyr223=) c.1158C= (p.Tyr386=) c.755C= (n.755C=) c.504C= (p.Tyr168=) c.319+2263C= | |
11 | g.71435549G>T | CA381701259 | DHCR7 | c.1254C>A (p.Tyr418Ter) c.1080C>A (p.Tyr360Ter) c.1305C>A (p.Tyr435Ter) c.1290C>A (p.Tyr430Ter) c.*17C>A (n.*17C>A) n.1294C>A c.669C>A (p.Tyr223Ter) c.1158C>A (p.Tyr386Ter) c.755C>A (n.755C>A) c.504C>A (p.Tyr168Ter) c.319+2263C>A | |
11 | g.71435550T>A | CA381701261 | DHCR7 | c.1253A>T (p.Tyr418Phe) c.1079A>T (p.Tyr360Phe) c.1304A>T (p.Tyr435Phe) c.1289A>T (p.Tyr430Phe) c.*16A>T (n.*16A>T) n.1293A>T c.668A>T (p.Tyr223Phe) c.1157A>T (p.Tyr386Phe) c.754A>T (n.754A>T) c.503A>T (p.Tyr168Phe) c.319+2262A>T | |
11 | g.71435550T>C | CA224324092 | DHCR7 | c.1253A>G (p.Tyr418Cys) c.1079A>G (p.Tyr360Cys) c.1304A>G (p.Tyr435Cys) c.1289A>G (p.Tyr430Cys) c.*16A>G (n.*16A>G) n.1293A>G c.668A>G (p.Tyr223Cys) c.1157A>G (p.Tyr386Cys) c.754A>G (n.754A>G) c.503A>G (p.Tyr168Cys) c.319+2262A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435550T>G | CA381701265 | DHCR7 | c.1253A>C (p.Tyr418Ser) c.1079A>C (p.Tyr360Ser) c.1304A>C (p.Tyr435Ser) c.1289A>C (p.Tyr430Ser) c.*16A>C (n.*16A>C) n.1293A>C c.668A>C (p.Tyr223Ser) c.1157A>C (p.Tyr386Ser) c.754A>C (n.754A>C) c.503A>C (p.Tyr168Ser) c.319+2262A>C | |
11 | g.71435550T= | CA1981486881 | DHCR7 | c.1253A= (p.Tyr418=) c.1079A= (p.Tyr360=) c.1304A= (p.Tyr435=) c.1289A= (p.Tyr430=) c.*16A= (n.*16A=) n.1293A= c.668A= (p.Tyr223=) c.1157A= (p.Tyr386=) c.754A= (n.754A=) c.503A= (p.Tyr168=) c.319+2262A= | |
11 | g.71435551A>C | CA381701267 | DHCR7 | c.1252T>G (p.Tyr418Asp) c.1078T>G (p.Tyr360Asp) c.1303T>G (p.Tyr435Asp) c.1288T>G (p.Tyr430Asp) c.*15T>G (n.*15T>G) n.1292T>G c.667T>G (p.Tyr223Asp) c.1156T>G (p.Tyr386Asp) c.753T>G (n.753T>G) c.502T>G (p.Tyr168Asp) c.319+2261T>G | |
11 | g.71435551A>G | CA381701268 | DHCR7 | c.1252T>C (p.Tyr418His) c.1078T>C (p.Tyr360His) c.1303T>C (p.Tyr435His) c.1288T>C (p.Tyr430His) c.*15T>C (n.*15T>C) n.1292T>C c.667T>C (p.Tyr223His) c.1156T>C (p.Tyr386His) c.753T>C (n.753T>C) c.502T>C (p.Tyr168His) c.319+2261T>C | |
11 | g.71435551A>T | CA381701270 | DHCR7 | c.1252T>A (p.Tyr418Asn) c.1078T>A (p.Tyr360Asn) c.1303T>A (p.Tyr435Asn) c.1288T>A (p.Tyr430Asn) c.*15T>A (n.*15T>A) n.1292T>A c.667T>A (p.Tyr223Asn) c.1156T>A (p.Tyr386Asn) c.753T>A (n.753T>A) c.502T>A (p.Tyr168Asn) c.319+2261T>A | |
11 | g.71435552G>A | CA6162278 | DHCR7 | c.1251C>T (p.Ala417=) c.1077C>T (p.Ala359=) c.1302C>T (p.Ala434=) c.1287C>T (p.Ala429=) c.*14C>T (n.*14C>T) n.1291C>T c.666C>T (p.Ala222=) c.1155C>T (p.Ala385=) c.752C>T (n.752C>T) c.501C>T (p.Ala167=) c.319+2260C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435552G>C | CA475861001 | DHCR7 | c.1251C>G (p.Ala417=) c.1077C>G (p.Ala359=) c.1302C>G (p.Ala434=) c.1287C>G (p.Ala429=) c.*14C>G (n.*14C>G) n.1291C>G c.666C>G (p.Ala222=) c.1155C>G (p.Ala385=) c.752C>G (n.752C>G) c.501C>G (p.Ala167=) c.319+2260C>G | |
11 | g.71435552G= | CA1981486882 | DHCR7 | c.1251C= (p.Ala417=) c.1077C= (p.Ala359=) c.1302C= (p.Ala434=) c.1287C= (p.Ala429=) c.*14C= (n.*14C=) n.1291C= c.666C= (p.Ala222=) c.1155C= (p.Ala385=) c.752C= (n.752C=) c.501C= (p.Ala167=) c.319+2260C= | |
11 | g.71435552G>T | CA475861002 | DHCR7 | c.1251C>A (p.Ala417=) c.1077C>A (p.Ala359=) c.1302C>A (p.Ala434=) c.1287C>A (p.Ala429=) c.*14C>A (n.*14C>A) n.1291C>A c.666C>A (p.Ala222=) c.1155C>A (p.Ala385=) c.752C>A (n.752C>A) c.501C>A (p.Ala167=) c.319+2260C>A | gnomAD v4 |
11 | g.71435553G>A | CA224324098 | DHCR7 | c.1250C>T (p.Ala417Val) c.1076C>T (p.Ala359Val) c.1301C>T (p.Ala434Val) c.1286C>T (p.Ala429Val) c.*13C>T (n.*13C>T) n.1290C>T c.665C>T (p.Ala222Val) c.1154C>T (p.Ala385Val) c.751C>T (n.751C>T) c.500C>T (p.Ala167Val) c.319+2259C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435553G>C | CA381701273 | DHCR7 | c.1250C>G (p.Ala417Gly) c.1076C>G (p.Ala359Gly) c.1301C>G (p.Ala434Gly) c.1286C>G (p.Ala429Gly) c.*13C>G (n.*13C>G) n.1290C>G c.665C>G (p.Ala222Gly) c.1154C>G (p.Ala385Gly) c.751C>G (n.751C>G) c.500C>G (p.Ala167Gly) c.319+2259C>G | COSMIC COSMIC |
11 | g.71435553G= | CA1981486883 | DHCR7 | c.1250C= (p.Ala417=) c.1076C= (p.Ala359=) c.1301C= (p.Ala434=) c.1286C= (p.Ala429=) c.*13C= (n.*13C=) n.1290C= c.665C= (p.Ala222=) c.1154C= (p.Ala385=) c.751C= (n.751C=) c.500C= (p.Ala167=) c.319+2259C= | |
11 | g.71435553G>T | CA381701276 | DHCR7 | c.1250C>A (p.Ala417Asp) c.1076C>A (p.Ala359Asp) c.1301C>A (p.Ala434Asp) c.1286C>A (p.Ala429Asp) c.*13C>A (n.*13C>A) n.1290C>A c.665C>A (p.Ala222Asp) c.1154C>A (p.Ala385Asp) c.751C>A (n.751C>A) c.500C>A (p.Ala167Asp) c.319+2259C>A | gnomAD v4 |
11 | g.71435553_71435555dup | CA2614857184 | DHCR7 | c.1248_1250dup (p.Ala417_Tyr418insAla) c.1074_1076dup (p.Ala359_Tyr360insAla) c.1299_1301dup (p.Ala434_Tyr435insAla) c.1284_1286dup (p.Ala429_Tyr430insAla) c.*11_*13dup (n.*11_*13dup) n.1288_1290dup c.663_665dup (p.Ala222_Tyr223insAla) c.1152_1154dup (p.Ala385_Tyr386insAla) c.749_751dup (n.749_751dup) c.498_500dup (p.Ala167_Tyr168insAla) c.319+2257_319+2259dup | gnomAD v4 |
11 | g.71435554C>A | CA381701279 | DHCR7 | c.1249G>T (p.Ala417Ser) c.1075G>T (p.Ala359Ser) c.1300G>T (p.Ala434Ser) c.1285G>T (p.Ala429Ser) c.*12G>T (n.*12G>T) n.1289G>T c.664G>T (p.Ala222Ser) c.1153G>T (p.Ala385Ser) c.750G>T (n.750G>T) c.499G>T (p.Ala167Ser) c.319+2258G>T | gnomAD v4 |
11 | g.71435554C>G | CA381701281 | DHCR7 | c.1249G>C (p.Ala417Pro) c.1075G>C (p.Ala359Pro) c.1300G>C (p.Ala434Pro) c.1285G>C (p.Ala429Pro) c.*12G>C (n.*12G>C) n.1289G>C c.664G>C (p.Ala222Pro) c.1153G>C (p.Ala385Pro) c.750G>C (n.750G>C) c.499G>C (p.Ala167Pro) c.319+2258G>C | |
11 | g.71435554C>T | CA381701277 | DHCR7 | c.1249G>A (p.Ala417Thr) c.1075G>A (p.Ala359Thr) c.1300G>A (p.Ala434Thr) c.1285G>A (p.Ala429Thr) c.*12G>A (n.*12G>A) n.1289G>A c.664G>A (p.Ala222Thr) c.1153G>A (p.Ala385Thr) c.750G>A (n.750G>A) c.499G>A (p.Ala167Thr) c.319+2258G>A | |
11 | g.71435555C>A | CA475861006 | DHCR7 | c.1248G>T (p.Leu416=) c.1074G>T (p.Leu358=) c.1299G>T (p.Leu433=) c.1284G>T (p.Leu428=) c.*11G>T (n.*11G>T) n.1288G>T c.663G>T (p.Leu221=) c.1152G>T (p.Leu384=) c.749G>T (n.749G>T) c.498G>T (p.Leu166=) c.319+2257G>T | |
11 | g.71435555C>G | CA475861007 | DHCR7 | c.1248G>C (p.Leu416=) c.1074G>C (p.Leu358=) c.1299G>C (p.Leu433=) c.1284G>C (p.Leu428=) c.*11G>C (n.*11G>C) n.1288G>C c.663G>C (p.Leu221=) c.1152G>C (p.Leu384=) c.749G>C (n.749G>C) c.498G>C (p.Leu166=) c.319+2257G>C | |
11 | g.71435555C>T | CA475861008 | DHCR7 | c.1248G>A (p.Leu416=) c.1074G>A (p.Leu358=) c.1299G>A (p.Leu433=) c.1284G>A (p.Leu428=) c.*11G>A (n.*11G>A) n.1288G>A c.663G>A (p.Leu221=) c.1152G>A (p.Leu384=) c.749G>A (n.749G>A) c.498G>A (p.Leu166=) c.319+2257G>A | |
11 | g.71435556A>C | CA381701284 | DHCR7 | c.1247T>G (p.Leu416Arg) c.1073T>G (p.Leu358Arg) c.1298T>G (p.Leu433Arg) c.1283T>G (p.Leu428Arg) c.*10T>G (n.*10T>G) n.1287T>G c.662T>G (p.Leu221Arg) c.1151T>G (p.Leu384Arg) c.748T>G (n.748T>G) c.497T>G (p.Leu166Arg) c.319+2256T>G | |
11 | g.71435556A>G | CA381701285 | DHCR7 | c.1247T>C (p.Leu416Pro) c.1073T>C (p.Leu358Pro) c.1298T>C (p.Leu433Pro) c.1283T>C (p.Leu428Pro) c.*10T>C (n.*10T>C) n.1287T>C c.662T>C (p.Leu221Pro) c.1151T>C (p.Leu384Pro) c.748T>C (n.748T>C) c.497T>C (p.Leu166Pro) c.319+2256T>C | COSMIC COSMIC |
11 | g.71435556A>T | CA381701287 | DHCR7 | c.1247T>A (p.Leu416Gln) c.1073T>A (p.Leu358Gln) c.1298T>A (p.Leu433Gln) c.1283T>A (p.Leu428Gln) c.*10T>A (n.*10T>A) n.1287T>A c.662T>A (p.Leu221Gln) c.1151T>A (p.Leu384Gln) c.748T>A (n.748T>A) c.497T>A (p.Leu166Gln) c.319+2256T>A | |
11 | g.71435557G>A | CA475861009 | DHCR7 | c.1246C>T (p.Leu416=) c.1072C>T (p.Leu358=) c.1297C>T (p.Leu433=) c.1282C>T (p.Leu428=) c.*9C>T (n.*9C>T) n.1286C>T c.661C>T (p.Leu221=) c.1150C>T (p.Leu384=) c.747C>T (n.747C>T) c.496C>T (p.Leu166=) c.319+2255C>T | |
11 | g.71435557G>C | CA381701289 | DHCR7 | c.1246C>G (p.Leu416Val) c.1072C>G (p.Leu358Val) c.1297C>G (p.Leu433Val) c.1282C>G (p.Leu428Val) c.*9C>G (n.*9C>G) n.1286C>G c.661C>G (p.Leu221Val) c.1150C>G (p.Leu384Val) c.747C>G (n.747C>G) c.496C>G (p.Leu166Val) c.319+2255C>G | gnomAD v4 |
11 | g.71435557G>T | CA381701291 | DHCR7 | c.1246C>A (p.Leu416Met) c.1072C>A (p.Leu358Met) c.1297C>A (p.Leu433Met) c.1282C>A (p.Leu428Met) c.*9C>A (n.*9C>A) n.1286C>A c.661C>A (p.Leu221Met) c.1150C>A (p.Leu384Met) c.747C>A (n.747C>A) c.496C>A (p.Leu166Met) c.319+2255C>A | gnomAD v4 |
11 | g.71435558G>A | CA475861013 | DHCR7 | c.1245C>T (p.Ser415=) c.1071C>T (p.Ser357=) c.1296C>T (p.Ser432=) c.1281C>T (p.Ser427=) c.*8C>T (n.*8C>T) n.1285C>T c.660C>T (p.Ser220=) c.1149C>T (p.Ser383=) c.746C>T (n.746C>T) c.495C>T (p.Ser165=) c.319+2254C>T | |
11 | g.71435558G>C | CA381701295 | DHCR7 | c.1245C>G (p.Ser415Arg) c.1071C>G (p.Ser357Arg) c.1296C>G (p.Ser432Arg) c.1281C>G (p.Ser427Arg) c.*8C>G (n.*8C>G) n.1285C>G c.660C>G (p.Ser220Arg) c.1149C>G (p.Ser383Arg) c.746C>G (n.746C>G) c.495C>G (p.Ser165Arg) c.319+2254C>G | |
11 | g.71435558G>T | CA381701293 | DHCR7 | c.1245C>A (p.Ser415Arg) c.1071C>A (p.Ser357Arg) c.1296C>A (p.Ser432Arg) c.1281C>A (p.Ser427Arg) c.*8C>A (n.*8C>A) n.1285C>A c.660C>A (p.Ser220Arg) c.1149C>A (p.Ser383Arg) c.746C>A (n.746C>A) c.495C>A (p.Ser165Arg) c.319+2254C>A | gnomAD v4 |
11 | g.71435559C>A | CA381701297 | DHCR7 | c.1244G>T (p.Ser415Ile) c.1070G>T (p.Ser357Ile) c.1295G>T (p.Ser432Ile) c.1280G>T (p.Ser427Ile) c.*7G>T (n.*7G>T) n.1284G>T c.659G>T (p.Ser220Ile) c.1148G>T (p.Ser383Ile) c.745G>T (n.745G>T) c.494G>T (p.Ser165Ile) c.319+2253G>T | |
11 | g.71435559C>G | CA381701298 | DHCR7 | c.1244G>C (p.Ser415Thr) c.1070G>C (p.Ser357Thr) c.1295G>C (p.Ser432Thr) c.1280G>C (p.Ser427Thr) c.*7G>C (n.*7G>C) n.1284G>C c.659G>C (p.Ser220Thr) c.1148G>C (p.Ser383Thr) c.745G>C (n.745G>C) c.494G>C (p.Ser165Thr) c.319+2253G>C | |
11 | g.71435559C>T | CA381701300 | DHCR7 | c.1244G>A (p.Ser415Asn) c.1070G>A (p.Ser357Asn) c.1295G>A (p.Ser432Asn) c.1280G>A (p.Ser427Asn) c.*7G>A (n.*7G>A) n.1284G>A c.659G>A (p.Ser220Asn) c.1148G>A (p.Ser383Asn) c.745G>A (n.745G>A) c.494G>A (p.Ser165Asn) c.319+2253G>A | |
11 | g.71435560T>A | CA381701302 | DHCR7 | c.1243A>T (p.Ser415Cys) c.1069A>T (p.Ser357Cys) c.1294A>T (p.Ser432Cys) c.1279A>T (p.Ser427Cys) c.*6A>T (n.*6A>T) n.1283A>T c.658A>T (p.Ser220Cys) c.1147A>T (p.Ser383Cys) c.744A>T (n.744A>T) c.493A>T (p.Ser165Cys) c.319+2252A>T | |
11 | g.71435560T>C | CA6162279 | DHCR7 | c.1243A>G (p.Ser415Gly) c.1069A>G (p.Ser357Gly) c.1294A>G (p.Ser432Gly) c.1279A>G (p.Ser427Gly) c.*6A>G (n.*6A>G) n.1283A>G c.658A>G (p.Ser220Gly) c.1147A>G (p.Ser383Gly) c.744A>G (n.744A>G) c.493A>G (p.Ser165Gly) c.319+2252A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435560T>G | CA381701303 | DHCR7 | c.1243A>C (p.Ser415Arg) c.1069A>C (p.Ser357Arg) c.1294A>C (p.Ser432Arg) c.1279A>C (p.Ser427Arg) c.*6A>C (n.*6A>C) n.1283A>C c.658A>C (p.Ser220Arg) c.1147A>C (p.Ser383Arg) c.744A>C (n.744A>C) c.493A>C (p.Ser165Arg) c.319+2252A>C | |
11 | g.71435560T= | CA1981486884 | DHCR7 | c.1243A= (p.Ser415=) c.1069A= (p.Ser357=) c.1294A= (p.Ser432=) c.1279A= (p.Ser427=) c.*6A= (n.*6A=) n.1283A= c.658A= (p.Ser220=) c.1147A= (p.Ser383=) c.744A= (n.744A=) c.493A= (p.Ser165=) c.319+2252A= | |
11 | g.71435561G>A | CA475861018 | DHCR7 | c.1242C>T (p.Gly414=) c.1068C>T (p.Gly356=) c.1293C>T (p.Gly431=) c.1278C>T (p.Gly426=) c.*5C>T (n.*5C>T) n.1282C>T c.657C>T (p.Gly219=) c.1146C>T (p.Gly382=) c.743C>T (n.743C>T) c.492C>T (p.Gly164=) c.319+2251C>T | ClinVar dbSNP gnomAD v4 |
11 | g.71435561G>C | CA475861020 | DHCR7 | c.1242C>G (p.Gly414=) c.1068C>G (p.Gly356=) c.1293C>G (p.Gly431=) c.1278C>G (p.Gly426=) c.*5C>G (n.*5C>G) n.1282C>G c.657C>G (p.Gly219=) c.1146C>G (p.Gly382=) c.743C>G (n.743C>G) c.492C>G (p.Gly164=) c.319+2251C>G | |
11 | g.71435561G>T | CA475861019 | DHCR7 | c.1242C>A (p.Gly414=) c.1068C>A (p.Gly356=) c.1293C>A (p.Gly431=) c.1278C>A (p.Gly426=) c.*5C>A (n.*5C>A) n.1282C>A c.657C>A (p.Gly219=) c.1146C>A (p.Gly382=) c.743C>A (n.743C>A) c.492C>A (p.Gly164=) c.319+2251C>A | |
11 | g.71435562C>A | CA381701307 | DHCR7 | c.1241G>T (p.Gly414Val) c.1067G>T (p.Gly356Val) c.1292G>T (p.Gly431Val) c.1277G>T (p.Gly426Val) c.*4G>T (n.*4G>T) n.1281G>T c.656G>T (p.Gly219Val) c.1145G>T (p.Gly382Val) c.742G>T (n.742G>T) c.491G>T (p.Gly164Val) c.319+2250G>T | |
11 | g.71435562C>G | CA381701305 | DHCR7 | c.1241G>C (p.Gly414Ala) c.1067G>C (p.Gly356Ala) c.1292G>C (p.Gly431Ala) c.1277G>C (p.Gly426Ala) c.*4G>C (n.*4G>C) n.1281G>C c.656G>C (p.Gly219Ala) c.1145G>C (p.Gly382Ala) c.742G>C (n.742G>C) c.491G>C (p.Gly164Ala) c.319+2250G>C | |
11 | g.71435562C>T | CA381701304 | DHCR7 | c.1241G>A (p.Gly414Asp) c.1067G>A (p.Gly356Asp) c.1292G>A (p.Gly431Asp) c.1277G>A (p.Gly426Asp) c.*4G>A (n.*4G>A) n.1281G>A c.656G>A (p.Gly219Asp) c.1145G>A (p.Gly382Asp) c.742G>A (n.742G>A) c.491G>A (p.Gly164Asp) c.319+2250G>A | gnomAD v4 |
11 | g.71435563C>A | CA381701308 | DHCR7 | c.1240G>T (p.Gly414Cys) c.1066G>T (p.Gly356Cys) c.1291G>T (p.Gly431Cys) c.1276G>T (p.Gly426Cys) c.*3G>T (n.*3G>T) n.1280G>T c.655G>T (p.Gly219Cys) c.1144G>T (p.Gly382Cys) c.741G>T (n.741G>T) c.490G>T (p.Gly164Cys) c.319+2249G>T | gnomAD v4 |
11 | g.71435563C= | CA1981486885 | DHCR7 | c.1240G= (p.Gly414=) c.1066G= (p.Gly356=) c.1291G= (p.Gly431=) c.1276G= (p.Gly426=) c.*3G= (n.*3G=) n.1280G= c.655G= (p.Gly219=) c.1144G= (p.Gly382=) c.741G= (n.741G=) c.490G= (p.Gly164=) c.319+2249G= | |
11 | g.71435563C>G | CA6162280 | DHCR7 | c.1240G>C (p.Gly414Arg) c.1066G>C (p.Gly356Arg) c.1291G>C (p.Gly431Arg) c.1276G>C (p.Gly426Arg) c.*3G>C (n.*3G>C) n.1280G>C c.655G>C (p.Gly219Arg) c.1144G>C (p.Gly382Arg) c.741G>C (n.741G>C) c.490G>C (p.Gly164Arg) c.319+2249G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435563C>T | CA381701310 | DHCR7 | c.1240G>A (p.Gly414Ser) c.1066G>A (p.Gly356Ser) c.1291G>A (p.Gly431Ser) c.1276G>A (p.Gly426Ser) c.*3G>A (n.*3G>A) n.1280G>A c.655G>A (p.Gly219Ser) c.1144G>A (p.Gly382Ser) c.741G>A (n.741G>A) c.490G>A (p.Gly164Ser) c.319+2249G>A | |
11 | g.71435564C>A | CA381701313 | DHCR7 | c.1239G>T (p.Met413Ile) c.1065G>T (p.Met355Ile) c.1290G>T (p.Met430Ile) c.1275G>T (p.Met425Ile) c.*2G>T (n.*2G>T) n.1279G>T c.654G>T (p.Met218Ile) c.1143G>T (p.Met381Ile) c.740G>T (n.740G>T) c.489G>T (p.Met163Ile) c.319+2248G>T | gnomAD v4 |
11 | g.71435564C>G | CA381701317 | DHCR7 | c.1239G>C (p.Met413Ile) c.1065G>C (p.Met355Ile) c.1290G>C (p.Met430Ile) c.1275G>C (p.Met425Ile) c.*2G>C (n.*2G>C) n.1279G>C c.654G>C (p.Met218Ile) c.1143G>C (p.Met381Ile) c.740G>C (n.740G>C) c.489G>C (p.Met163Ile) c.319+2248G>C | |
11 | g.71435564C>T | CA381701315 | DHCR7 | c.1239G>A (p.Met413Ile) c.1065G>A (p.Met355Ile) c.1290G>A (p.Met430Ile) c.1275G>A (p.Met425Ile) c.*2G>A (n.*2G>A) n.1279G>A c.654G>A (p.Met218Ile) c.1143G>A (p.Met381Ile) c.740G>A (n.740G>A) c.489G>A (p.Met163Ile) c.319+2248G>A | |
11 | g.71435565A>C | CA381701319 | DHCR7 | c.1238T>G (p.Met413Arg) c.1064T>G (p.Met355Arg) c.1289T>G (p.Met430Arg) c.1274T>G (p.Met425Arg) c.*1T>G (n.*1T>G) n.1278T>G c.653T>G (p.Met218Arg) c.1142T>G (p.Met381Arg) c.739T>G (n.739T>G) c.488T>G (p.Met163Arg) c.319+2247T>G | |
11 | g.71435565A>G | CA381701320 | DHCR7 | c.1238T>C (p.Met413Thr) c.1064T>C (p.Met355Thr) c.1289T>C (p.Met430Thr) c.1274T>C (p.Met425Thr) c.*1T>C (n.*1T>C) n.1278T>C c.653T>C (p.Met218Thr) c.1142T>C (p.Met381Thr) c.739T>C (n.739T>C) c.488T>C (p.Met163Thr) c.319+2247T>C | |
11 | g.71435565A>T | CA381701322 | DHCR7 | c.1238T>A (p.Met413Lys) c.1064T>A (p.Met355Lys) c.1289T>A (p.Met430Lys) c.1274T>A (p.Met425Lys) c.*1T>A (n.*1T>A) n.1278T>A c.653T>A (p.Met218Lys) c.1142T>A (p.Met381Lys) c.739T>A (n.739T>A) c.488T>A (p.Met163Lys) c.319+2247T>A | |
11 | g.71435566T>A | CA381701324 | DHCR7 | c.1237A>T (p.Met413Leu) c.1063A>T (p.Met355Leu) c.1288A>T (p.Met430Leu) c.1273A>T (p.Met425Leu) c.1245A>T (p.Ter415Cys) n.1277A>T c.652A>T (p.Met218Leu) c.1141A>T (p.Met381Leu) c.738A>T (p.Ter246Cys) c.487A>T (p.Met163Leu) c.319+2246A>T c.1371A>T (p.Ter457Cys) | |
11 | g.71435566T>C | CA381701326 | DHCR7 | c.1237A>G (p.Met413Val) c.1063A>G (p.Met355Val) c.1288A>G (p.Met430Val) c.1273A>G (p.Met425Val) c.1245A>G (p.Ter415Trp) n.1277A>G c.652A>G (p.Met218Val) c.1141A>G (p.Met381Val) c.738A>G (p.Ter246Trp) c.487A>G (p.Met163Val) c.319+2246A>G c.1371A>G (p.Ter457Trp) | |
11 | g.71435566T>G | CA381701328 | DHCR7 | c.1237A>C (p.Met413Leu) c.1063A>C (p.Met355Leu) c.1288A>C (p.Met430Leu) c.1273A>C (p.Met425Leu) c.1245A>C (p.Ter415Cys) n.1277A>C c.652A>C (p.Met218Leu) c.1141A>C (p.Met381Leu) c.738A>C (p.Ter246Cys) c.487A>C (p.Met163Leu) c.319+2246A>C c.1371A>C (p.Ter457Cys) | |
11 | g.71435567C>A | CA381701329 | DHCR7 | c.1236G>T (p.Leu412=) c.1062G>T (p.Leu354=) c.1287G>T (p.Leu429=) c.1272G>T (p.Leu424=) c.1244G>T (p.Ter415Leu) n.1276G>T c.651G>T (p.Leu217=) c.1140G>T (p.Leu380=) c.737G>T (p.Ter246Leu) c.486G>T (p.Leu162=) c.319+2245G>T c.1370G>T (p.Ter457Leu) | |
11 | g.71435567C>G | CA381701331 | DHCR7 | c.1236G>C (p.Leu412=) c.1062G>C (p.Leu354=) c.1287G>C (p.Leu429=) c.1272G>C (p.Leu424=) c.1244G>C (p.Ter415Ser) n.1276G>C c.651G>C (p.Leu217=) c.1140G>C (p.Leu380=) c.737G>C (p.Ter246Ser) c.486G>C (p.Leu162=) c.319+2245G>C c.1370G>C (p.Ter457Ser) | ClinVar |
11 | g.71435567C>T | CA475861026 | DHCR7 | c.1236G>A (p.Leu412=) c.1062G>A (p.Leu354=) c.1287G>A (p.Leu429=) c.1272G>A (p.Leu424=) c.1244G>A (p.Ter415=) n.1276G>A c.651G>A (p.Leu217=) c.1140G>A (p.Leu380=) c.737G>A (p.Ter246=) c.486G>A (p.Leu162=) c.319+2245G>A c.1370G>A (p.Ter457=) | |
11 | g.71435568A>C | CA381701334 | DHCR7 | c.1235T>G (p.Leu412Arg) c.1061T>G (p.Leu354Arg) c.1286T>G (p.Leu429Arg) c.1271T>G (p.Leu424Arg) c.1243T>G (p.Ter415Gly) n.1275T>G c.650T>G (p.Leu217Arg) c.1139T>G (p.Leu380Arg) c.736T>G (p.Ter246Gly) c.485T>G (p.Leu162Arg) c.319+2244T>G c.1369T>G (p.Ter457Gly) | |
11 | g.71435568A>G | CA381701335 | DHCR7 | c.1235T>C (p.Leu412Pro) c.1061T>C (p.Leu354Pro) c.1286T>C (p.Leu429Pro) c.1271T>C (p.Leu424Pro) c.1243T>C (p.Ter415Arg) n.1275T>C c.650T>C (p.Leu217Pro) c.1139T>C (p.Leu380Pro) c.736T>C (p.Ter246Arg) c.485T>C (p.Leu162Pro) c.319+2244T>C c.1369T>C (p.Ter457Arg) | |
11 | g.71435568A>T | CA381701336 | DHCR7 | c.1235T>A (p.Leu412Gln) c.1061T>A (p.Leu354Gln) c.1286T>A (p.Leu429Gln) c.1271T>A (p.Leu424Gln) c.1243T>A (p.Ter415Arg) n.1275T>A c.650T>A (p.Leu217Gln) c.1139T>A (p.Leu380Gln) c.736T>A (p.Ter246Arg) c.485T>A (p.Leu162Gln) c.319+2244T>A c.1369T>A (p.Ter457Arg) | |
11 | g.71435569G>A | CA475861030 | DHCR7 | c.1234C>T (p.Leu412=) c.1060C>T (p.Leu354=) c.1285C>T (p.Leu429=) c.1270C>T (p.Leu424=) c.1242C>T (p.Thr414=) n.1274C>T c.649C>T (p.Leu217=) c.1138C>T (p.Leu380=) c.735C>T (p.Thr245=) c.484C>T (p.Leu162=) c.319+2243C>T c.1368C>T (p.Thr456=) | ClinVar dbSNP gnomAD v4 |
11 | g.71435569G>C | CA381701338 | DHCR7 | c.1234C>G (p.Leu412Val) c.1060C>G (p.Leu354Val) c.1285C>G (p.Leu429Val) c.1270C>G (p.Leu424Val) c.1242C>G (p.Thr414=) n.1274C>G c.649C>G (p.Leu217Val) c.1138C>G (p.Leu380Val) c.735C>G (p.Thr245=) c.484C>G (p.Leu162Val) c.319+2243C>G c.1368C>G (p.Thr456=) | |
11 | g.71435569G= | CA1981486886 | DHCR7 | c.1234C= (p.Leu412=) c.1060C= (p.Leu354=) c.1285C= (p.Leu429=) c.1270C= (p.Leu424=) c.1242C= (p.Thr414=) n.1274C= c.649C= (p.Leu217=) c.1138C= (p.Leu380=) c.735C= (p.Thr245=) c.484C= (p.Leu162=) c.319+2243C= c.1368C= (p.Thr456=) | |
11 | g.71435569G>T | CA381701340 | DHCR7 | c.1234C>A (p.Leu412Met) c.1060C>A (p.Leu354Met) c.1285C>A (p.Leu429Met) c.1270C>A (p.Leu424Met) c.1242C>A (p.Thr414=) n.1274C>A c.649C>A (p.Leu217Met) c.1138C>A (p.Leu380Met) c.735C>A (p.Thr245=) c.484C>A (p.Leu162Met) c.319+2243C>A c.1368C>A (p.Thr456=) | |
11 | g.71435570G>A | CA381701341 | DHCR7 | c.1233C>T (p.Asp411=) c.1059C>T (p.Asp353=) c.1284C>T (p.Asp428=) c.1269C>T (p.Asp423=) c.1241C>T (p.Thr414Ile) n.1273C>T c.648C>T (p.Asp216=) c.1137C>T (p.Asp379=) c.734C>T (p.Thr245Ile) c.483C>T (p.Asp161=) c.319+2242C>T c.1367C>T (p.Thr456Ile) | |
11 | g.71435570G>C | CA381701344 | DHCR7 | c.1233C>G (p.Asp411Glu) c.1059C>G (p.Asp353Glu) c.1284C>G (p.Asp428Glu) c.1269C>G (p.Asp423Glu) c.1241C>G (p.Thr414Ser) n.1273C>G c.648C>G (p.Asp216Glu) c.1137C>G (p.Asp379Glu) c.734C>G (p.Thr245Ser) c.483C>G (p.Asp161Glu) c.319+2242C>G c.1367C>G (p.Thr456Ser) | |
11 | g.71435570G>T | CA381701342 | DHCR7 | c.1233C>A (p.Asp411Glu) c.1059C>A (p.Asp353Glu) c.1284C>A (p.Asp428Glu) c.1269C>A (p.Asp423Glu) c.1241C>A (p.Thr414Asn) n.1273C>A c.648C>A (p.Asp216Glu) c.1137C>A (p.Asp379Glu) c.734C>A (p.Thr245Asn) c.483C>A (p.Asp161Glu) c.319+2242C>A c.1367C>A (p.Thr456Asn) | gnomAD v4 |
11 | g.71435571T>A | CA381701347 | DHCR7 | c.1232A>T (p.Asp411Val) c.1058A>T (p.Asp353Val) c.1283A>T (p.Asp428Val) c.1268A>T (p.Asp423Val) c.1240A>T (p.Thr414Ser) n.1272A>T c.647A>T (p.Asp216Val) c.1136A>T (p.Asp379Val) c.733A>T (p.Thr245Ser) c.482A>T (p.Asp161Val) c.319+2241A>T c.1366A>T (p.Thr456Ser) | |
11 | g.71435571T>C | CA381701349 | DHCR7 | c.1232A>G (p.Asp411Gly) c.1058A>G (p.Asp353Gly) c.1283A>G (p.Asp428Gly) c.1268A>G (p.Asp423Gly) c.1240A>G (p.Thr414Ala) n.1272A>G c.647A>G (p.Asp216Gly) c.1136A>G (p.Asp379Gly) c.733A>G (p.Thr245Ala) c.482A>G (p.Asp161Gly) c.319+2241A>G c.1366A>G (p.Thr456Ala) | |
11 | g.71435571T>G | CA381701351 | DHCR7 | c.1232A>C (p.Asp411Ala) c.1058A>C (p.Asp353Ala) c.1283A>C (p.Asp428Ala) c.1268A>C (p.Asp423Ala) c.1240A>C (p.Thr414Pro) n.1272A>C c.647A>C (p.Asp216Ala) c.1136A>C (p.Asp379Ala) c.733A>C (p.Thr245Pro) c.482A>C (p.Asp161Ala) c.319+2241A>C c.1366A>C (p.Thr456Pro) | |
11 | g.71435572C>A | CA381701353 | DHCR7 | c.1231G>T (p.Asp411Tyr) c.1057G>T (p.Asp353Tyr) c.1282G>T (p.Asp428Tyr) c.1267G>T (p.Asp423Tyr) c.1239G>T (p.Ala413=) n.1271G>T c.646G>T (p.Asp216Tyr) c.1135G>T (p.Asp379Tyr) c.732G>T (p.Ala244=) c.481G>T (p.Asp161Tyr) c.319+2240G>T c.1365G>T (p.Ala455=) | |
11 | g.71435572C= | CA1981486887 | DHCR7 | c.1231G= (p.Asp411=) c.1057G= (p.Asp353=) c.1282G= (p.Asp428=) c.1267G= (p.Asp423=) c.1239G= (p.Ala413=) n.1271G= c.646G= (p.Asp216=) c.1135G= (p.Asp379=) c.732G= (p.Ala244=) c.481G= (p.Asp161=) c.319+2240G= c.1365G= (p.Ala455=) | |
11 | g.71435572C>G | CA381701355 | DHCR7 | c.1231G>C (p.Asp411His) c.1057G>C (p.Asp353His) c.1282G>C (p.Asp428His) c.1267G>C (p.Asp423His) c.1239G>C (p.Ala413=) n.1271G>C c.646G>C (p.Asp216His) c.1135G>C (p.Asp379His) c.732G>C (p.Ala244=) c.481G>C (p.Asp161His) c.319+2240G>C c.1365G>C (p.Ala455=) | |
11 | g.71435572C>T | CA6162281 | DHCR7 | c.1231G>A (p.Asp411Asn) c.1057G>A (p.Asp353Asn) c.1282G>A (p.Asp428Asn) c.1267G>A (p.Asp423Asn) c.1239G>A (p.Ala413=) n.1271G>A c.646G>A (p.Asp216Asn) c.1135G>A (p.Asp379Asn) c.732G>A (p.Ala244=) c.481G>A (p.Asp161Asn) c.319+2240G>A c.1365G>A (p.Ala455=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435573G>A | CA381701357 | DHCR7 | c.1230C>T (p.Gly410=) c.1056C>T (p.Gly352=) c.1281C>T (p.Gly427=) c.1266C>T (p.Gly422=) c.1238C>T (p.Ala413Val) n.1270C>T c.645C>T (p.Gly215=) c.1134C>T (p.Gly378=) c.731C>T (p.Ala244Val) c.480C>T (p.Gly160=) c.319+2239C>T c.1364C>T (p.Ala455Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71435573G>C | CA381701359 | DHCR7 | c.1230C>G (p.Gly410=) c.1056C>G (p.Gly352=) c.1281C>G (p.Gly427=) c.1266C>G (p.Gly422=) c.1238C>G (p.Ala413Gly) n.1270C>G c.645C>G (p.Gly215=) c.1134C>G (p.Gly378=) c.731C>G (p.Ala244Gly) c.480C>G (p.Gly160=) c.319+2239C>G c.1364C>G (p.Ala455Gly) | gnomAD v4 |
11 | g.71435573G= | CA1981486888 | DHCR7 | c.1230C= (p.Gly410=) c.1056C= (p.Gly352=) c.1281C= (p.Gly427=) c.1266C= (p.Gly422=) c.1238C= (p.Ala413=) n.1270C= c.645C= (p.Gly215=) c.1134C= (p.Gly378=) c.731C= (p.Ala244=) c.480C= (p.Gly160=) c.319+2239C= c.1364C= (p.Ala455=) | |
11 | g.71435573G>T | CA381701361 | DHCR7 | c.1230C>A (p.Gly410=) c.1056C>A (p.Gly352=) c.1281C>A (p.Gly427=) c.1266C>A (p.Gly422=) c.1238C>A (p.Ala413Glu) n.1270C>A c.645C>A (p.Gly215=) c.1134C>A (p.Gly378=) c.731C>A (p.Ala244Glu) c.480C>A (p.Gly160=) c.319+2239C>A c.1364C>A (p.Ala455Glu) | |
11 | g.71435574C>A | CA381701367 | DHCR7 | c.1229G>T (p.Gly410Val) c.1055G>T (p.Gly352Val) c.1280G>T (p.Gly427Val) c.1265G>T (p.Gly422Val) c.1237G>T (p.Ala413Ser) n.1269G>T c.644G>T (p.Gly215Val) c.1133G>T (p.Gly378Val) c.730G>T (p.Ala244Ser) c.479G>T (p.Gly160Val) c.319+2238G>T c.1363G>T (p.Ala455Ser) | |
11 | g.71435574C>G | CA381701365 | DHCR7 | c.1229G>C (p.Gly410Ala) c.1055G>C (p.Gly352Ala) c.1280G>C (p.Gly427Ala) c.1265G>C (p.Gly422Ala) c.1237G>C (p.Ala413Pro) n.1269G>C c.644G>C (p.Gly215Ala) c.1133G>C (p.Gly378Ala) c.730G>C (p.Ala244Pro) c.479G>C (p.Gly160Ala) c.319+2238G>C c.1363G>C (p.Ala455Pro) | |
11 | g.71435574C>T | CA381701363 | DHCR7 | c.1229G>A (p.Gly410Asp) c.1055G>A (p.Gly352Asp) c.1280G>A (p.Gly427Asp) c.1265G>A (p.Gly422Asp) c.1237G>A (p.Ala413Thr) n.1269G>A c.644G>A (p.Gly215Asp) c.1133G>A (p.Gly378Asp) c.730G>A (p.Ala244Thr) c.479G>A (p.Gly160Asp) c.319+2238G>A c.1363G>A (p.Ala455Thr) | |
11 | g.71435575C>A | CA381701369 | DHCR7 | c.1228G>T (p.Gly410Cys) c.1054G>T (p.Gly352Cys) c.1279G>T (p.Gly427Cys) c.1264G>T (p.Gly422Cys) c.1236G>T (p.Ser412=) n.1268G>T c.643G>T (p.Gly215Cys) c.1132G>T (p.Gly378Cys) c.729G>T (p.Ser243=) c.478G>T (p.Gly160Cys) c.319+2237G>T c.1362G>T (p.Ser454=) | |
11 | g.71435575C= | CA1981486889 | DHCR7 | c.1228G= (p.Gly410=) c.1054G= (p.Gly352=) c.1279G= (p.Gly427=) c.1264G= (p.Gly422=) c.1236G= (p.Ser412=) n.1268G= c.643G= (p.Gly215=) c.1132G= (p.Gly378=) c.729G= (p.Ser243=) c.478G= (p.Gly160=) c.319+2237G= c.1362G= (p.Ser454=) | |
11 | g.71435575C>G | CA381701371 | DHCR7 | c.1228G>C (p.Gly410Arg) c.1054G>C (p.Gly352Arg) c.1279G>C (p.Gly427Arg) c.1264G>C (p.Gly422Arg) c.1236G>C (p.Ser412=) n.1268G>C c.643G>C (p.Gly215Arg) c.1132G>C (p.Gly378Arg) c.729G>C (p.Ser243=) c.478G>C (p.Gly160Arg) c.319+2237G>C c.1362G>C (p.Ser454=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435575C>T | CA221650 | DHCR7 | c.1228G>A (p.Gly410Ser) c.1054G>A (p.Gly352Ser) c.1279G>A (p.Gly427Ser) c.1264G>A (p.Gly422Ser) c.1236G>A (p.Ser412=) n.1268G>A c.643G>A (p.Gly215Ser) c.1132G>A (p.Gly378Ser) c.729G>A (p.Ser243=) c.478G>A (p.Gly160Ser) c.319+2237G>A c.1362G>A (p.Ser454=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435576G>A | CA224324140 | DHCR7 | c.1227C>T (p.Val409=) c.1053C>T (p.Val351=) c.1278C>T (p.Val426=) c.1263C>T (p.Val421=) c.1235C>T (p.Ser412Leu) n.1267C>T c.642C>T (p.Val214=) c.1131C>T (p.Val377=) c.728C>T (p.Ser243Leu) c.477C>T (p.Val159=) c.319+2236C>T c.1361C>T (p.Ser454Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435576G>C | CA381701375 | DHCR7 | c.1227C>G (p.Val409=) c.1053C>G (p.Val351=) c.1278C>G (p.Val426=) c.1263C>G (p.Val421=) c.1235C>G (p.Ser412Trp) n.1267C>G c.642C>G (p.Val214=) c.1131C>G (p.Val377=) c.728C>G (p.Ser243Trp) c.477C>G (p.Val159=) c.319+2236C>G c.1361C>G (p.Ser454Trp) | gnomAD v4 |
11 | g.71435576G= | CA1981486890 | DHCR7 | c.1227C= (p.Val409=) c.1053C= (p.Val351=) c.1278C= (p.Val426=) c.1263C= (p.Val421=) c.1235C= (p.Ser412=) n.1267C= c.642C= (p.Val214=) c.1131C= (p.Val377=) c.728C= (p.Ser243=) c.477C= (p.Val159=) c.319+2236C= c.1361C= (p.Ser454=) | |
11 | g.71435576G>T | CA381701377 | DHCR7 | c.1227C>A (p.Val409=) c.1053C>A (p.Val351=) c.1278C>A (p.Val426=) c.1263C>A (p.Val421=) c.1235C>A (p.Ser412Ter) n.1267C>A c.642C>A (p.Val214=) c.1131C>A (p.Val377=) c.728C>A (p.Ser243Ter) c.477C>A (p.Val159=) c.319+2236C>A c.1361C>A (p.Ser454Ter) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435577A>C | CA381701379 | DHCR7 | c.1226T>G (p.Val409Gly) c.1052T>G (p.Val351Gly) c.1277T>G (p.Val426Gly) c.1262T>G (p.Val421Gly) c.1234T>G (p.Ser412Ala) n.1266T>G c.641T>G (p.Val214Gly) c.1130T>G (p.Val377Gly) c.727T>G (p.Ser243Ala) c.476T>G (p.Val159Gly) c.319+2235T>G c.1360T>G (p.Ser454Ala) | |
11 | g.71435577A>G | CA381701381 | DHCR7 | c.1226T>C (p.Val409Ala) c.1052T>C (p.Val351Ala) c.1277T>C (p.Val426Ala) c.1262T>C (p.Val421Ala) c.1234T>C (p.Ser412Pro) n.1266T>C c.641T>C (p.Val214Ala) c.1130T>C (p.Val377Ala) c.727T>C (p.Ser243Pro) c.476T>C (p.Val159Ala) c.319+2235T>C c.1360T>C (p.Ser454Pro) | gnomAD v4 |
11 | g.71435577A>T | CA381701383 | DHCR7 | c.1226T>A (p.Val409Asp) c.1052T>A (p.Val351Asp) c.1277T>A (p.Val426Asp) c.1262T>A (p.Val421Asp) c.1234T>A (p.Ser412Thr) n.1266T>A c.641T>A (p.Val214Asp) c.1130T>A (p.Val377Asp) c.727T>A (p.Ser243Thr) c.476T>A (p.Val159Asp) c.319+2235T>A c.1360T>A (p.Ser454Thr) | |
11 | g.71435578C>A | CA381701385 | DHCR7 | c.1225G>T (p.Val409Phe) c.1051G>T (p.Val351Phe) c.1276G>T (p.Val426Phe) c.1261G>T (p.Val421Phe) c.1233G>T (p.Thr411=) n.1265G>T c.640G>T (p.Val214Phe) c.1129G>T (p.Val377Phe) c.726G>T (p.Thr242=) c.475G>T (p.Val159Phe) c.319+2234G>T c.1359G>T (p.Thr453=) | |
11 | g.71435578C= | CA1981486891 | DHCR7 | c.1225G= (p.Val409=) c.1051G= (p.Val351=) c.1276G= (p.Val426=) c.1261G= (p.Val421=) c.1233G= (p.Thr411=) n.1265G= c.640G= (p.Val214=) c.1129G= (p.Val377=) c.726G= (p.Thr242=) c.475G= (p.Val159=) c.319+2234G= c.1359G= (p.Thr453=) | |
11 | g.71435578C>G | CA381701387 | DHCR7 | c.1225G>C (p.Val409Leu) c.1051G>C (p.Val351Leu) c.1276G>C (p.Val426Leu) c.1261G>C (p.Val421Leu) c.1233G>C (p.Thr411=) n.1265G>C c.640G>C (p.Val214Leu) c.1129G>C (p.Val377Leu) c.726G>C (p.Thr242=) c.475G>C (p.Val159Leu) c.319+2234G>C c.1359G>C (p.Thr453=) | |
11 | g.71435578C>T | CA6162282 | DHCR7 | c.1225G>A (p.Val409Ile) c.1051G>A (p.Val351Ile) c.1276G>A (p.Val426Ile) c.1261G>A (p.Val421Ile) c.1233G>A (p.Thr411=) n.1265G>A c.640G>A (p.Val214Ile) c.1129G>A (p.Val377Ile) c.726G>A (p.Thr242=) c.475G>A (p.Val159Ile) c.319+2234G>A c.1359G>A (p.Thr453=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435579G>A | CA6162283 | DHCR7 | c.1224C>T (p.Tyr408=) c.1050C>T (p.Tyr350=) c.1275C>T (p.Tyr425=) c.1260C>T (p.Tyr420=) c.1232C>T (p.Thr411Met) n.1264C>T c.639C>T (p.Tyr213=) c.1128C>T (p.Tyr376=) c.725C>T (p.Thr242Met) c.474C>T (p.Tyr158=) c.319+2233C>T c.1358C>T (p.Thr453Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435579G>C | CA381701393 | DHCR7 | c.1224C>G (p.Tyr408Ter) c.1050C>G (p.Tyr350Ter) c.1275C>G (p.Tyr425Ter) c.1260C>G (p.Tyr420Ter) c.1232C>G (p.Thr411Arg) n.1264C>G c.639C>G (p.Tyr213Ter) c.1128C>G (p.Tyr376Ter) c.725C>G (p.Thr242Arg) c.474C>G (p.Tyr158Ter) c.319+2233C>G c.1358C>G (p.Thr453Arg) | ClinVar gnomAD v4 |
11 | g.71435579G= | CA1981486892 | DHCR7 | c.1224C= (p.Tyr408=) c.1050C= (p.Tyr350=) c.1275C= (p.Tyr425=) c.1260C= (p.Tyr420=) c.1232C= (p.Thr411=) n.1264C= c.639C= (p.Tyr213=) c.1128C= (p.Tyr376=) c.725C= (p.Thr242=) c.474C= (p.Tyr158=) c.319+2233C= c.1358C= (p.Thr453=) | |
11 | g.71435579G>T | CA381701391 | DHCR7 | c.1224C>A (p.Tyr408Ter) c.1050C>A (p.Tyr350Ter) c.1275C>A (p.Tyr425Ter) c.1260C>A (p.Tyr420Ter) c.1232C>A (p.Thr411Lys) n.1264C>A c.639C>A (p.Tyr213Ter) c.1128C>A (p.Tyr376Ter) c.725C>A (p.Thr242Lys) c.474C>A (p.Tyr158Ter) c.319+2233C>A c.1358C>A (p.Thr453Lys) | |
11 | g.71435580T>A | CA381701397 | DHCR7 | c.1223A>T (p.Tyr408Phe) c.1049A>T (p.Tyr350Phe) c.1274A>T (p.Tyr425Phe) c.1259A>T (p.Tyr420Phe) c.1231A>T (p.Thr411Ser) n.1263A>T c.638A>T (p.Tyr213Phe) c.1127A>T (p.Tyr376Phe) c.724A>T (p.Thr242Ser) c.473A>T (p.Tyr158Phe) c.319+2232A>T c.1357A>T (p.Thr453Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.71435580T>C | CA381701398 | DHCR7 | c.1223A>G (p.Tyr408Cys) c.1049A>G (p.Tyr350Cys) c.1274A>G (p.Tyr425Cys) c.1259A>G (p.Tyr420Cys) c.1231A>G (p.Thr411Ala) n.1263A>G c.638A>G (p.Tyr213Cys) c.1127A>G (p.Tyr376Cys) c.724A>G (p.Thr242Ala) c.473A>G (p.Tyr158Cys) c.319+2232A>G c.1357A>G (p.Thr453Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435580T>G | CA381701399 | DHCR7 | c.1223A>C (p.Tyr408Ser) c.1049A>C (p.Tyr350Ser) c.1274A>C (p.Tyr425Ser) c.1259A>C (p.Tyr420Ser) c.1231A>C (p.Thr411Pro) n.1263A>C c.638A>C (p.Tyr213Ser) c.1127A>C (p.Tyr376Ser) c.724A>C (p.Thr242Pro) c.473A>C (p.Tyr158Ser) c.319+2232A>C c.1357A>C (p.Thr453Pro) | |
11 | g.71435580T= | CA1981486893 | DHCR7 | c.1223A= (p.Tyr408=) c.1049A= (p.Tyr350=) c.1274A= (p.Tyr425=) c.1259A= (p.Tyr420=) c.1231A= (p.Thr411=) n.1263A= c.638A= (p.Tyr213=) c.1127A= (p.Tyr376=) c.724A= (p.Thr242=) c.473A= (p.Tyr158=) c.319+2232A= c.1357A= (p.Thr453=) | |
11 | g.71435581A= | CA1981486894 | DHCR7 | c.1222T= (p.Tyr408=) c.1048T= (p.Tyr350=) c.1273T= (p.Tyr425=) c.1258T= (p.Tyr420=) c.1230T= (p.Thr410=) n.1262T= c.637T= (p.Tyr213=) c.1126T= (p.Tyr376=) c.723T= (p.Thr241=) c.472T= (p.Tyr158=) c.319+2231T= c.1356T= (p.Thr452=) | |
11 | g.71435581A>C | CA381701401 | DHCR7 | c.1222T>G (p.Tyr408Asp) c.1048T>G (p.Tyr350Asp) c.1273T>G (p.Tyr425Asp) c.1258T>G (p.Tyr420Asp) c.1230T>G (p.Thr410=) n.1262T>G c.637T>G (p.Tyr213Asp) c.1126T>G (p.Tyr376Asp) c.723T>G (p.Thr241=) c.472T>G (p.Tyr158Asp) c.319+2231T>G c.1356T>G (p.Thr452=) | |
11 | g.71435581A>G | CA224324187 | DHCR7 | c.1222T>C (p.Tyr408His) c.1048T>C (p.Tyr350His) c.1273T>C (p.Tyr425His) c.1258T>C (p.Tyr420His) c.1230T>C (p.Thr410=) n.1262T>C c.637T>C (p.Tyr213His) c.1126T>C (p.Tyr376His) c.723T>C (p.Thr241=) c.472T>C (p.Tyr158His) c.319+2231T>C c.1356T>C (p.Thr452=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435581A>T | CA381701404 | DHCR7 | c.1222T>A (p.Tyr408Asn) c.1048T>A (p.Tyr350Asn) c.1273T>A (p.Tyr425Asn) c.1258T>A (p.Tyr420Asn) c.1230T>A (p.Thr410=) n.1262T>A c.637T>A (p.Tyr213Asn) c.1126T>A (p.Tyr376Asn) c.723T>A (p.Thr241=) c.472T>A (p.Tyr158Asn) c.319+2231T>A c.1356T>A (p.Thr452=) | |
11 | g.71435582G>A | CA381701406 | DHCR7 | c.1221C>T (p.Asn407=) c.1047C>T (p.Asn349=) c.1272C>T (p.Asn424=) c.1257C>T (p.Asn419=) c.1229C>T (p.Thr410Ile) n.1261C>T c.636C>T (p.Asn212=) c.1125C>T (p.Asn375=) c.722C>T (p.Thr241Ile) c.471C>T (p.Asn157=) c.319+2230C>T c.1355C>T (p.Thr452Ile) | gnomAD v4 |
11 | g.71435582G>C | CA381701408 | DHCR7 | c.1221C>G (p.Asn407Lys) c.1047C>G (p.Asn349Lys) c.1272C>G (p.Asn424Lys) c.1257C>G (p.Asn419Lys) c.1229C>G (p.Thr410Ser) n.1261C>G c.636C>G (p.Asn212Lys) c.1125C>G (p.Asn375Lys) c.722C>G (p.Thr241Ser) c.471C>G (p.Asn157Lys) c.319+2230C>G c.1355C>G (p.Thr452Ser) | |
11 | g.71435582G= | CA1981486895 | DHCR7 | c.1221C= (p.Asn407=) c.1047C= (p.Asn349=) c.1272C= (p.Asn424=) c.1257C= (p.Asn419=) c.1229C= (p.Thr410=) n.1261C= c.636C= (p.Asn212=) c.1125C= (p.Asn375=) c.722C= (p.Thr241=) c.471C= (p.Asn157=) c.319+2230C= c.1355C= (p.Thr452=) | |
11 | g.71435582G>T | CA381701409 | DHCR7 | c.1221C>A (p.Asn407Lys) c.1047C>A (p.Asn349Lys) c.1272C>A (p.Asn424Lys) c.1257C>A (p.Asn419Lys) c.1229C>A (p.Thr410Asn) n.1261C>A c.636C>A (p.Asn212Lys) c.1125C>A (p.Asn375Lys) c.722C>A (p.Thr241Asn) c.471C>A (p.Asn157Lys) c.319+2230C>A c.1355C>A (p.Thr452Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435583T>A | CA381701412 | DHCR7 | c.1220A>T (p.Asn407Ile) c.1046A>T (p.Asn349Ile) c.1271A>T (p.Asn424Ile) c.1256A>T (p.Asn419Ile) c.1228A>T (p.Thr410Ser) n.1260A>T c.635A>T (p.Asn212Ile) c.1124A>T (p.Asn375Ile) c.721A>T (p.Thr241Ser) c.470A>T (p.Asn157Ile) c.319+2229A>T c.1354A>T (p.Thr452Ser) | |
11 | g.71435583T>C | CA6162284 | DHCR7 | c.1220A>G (p.Asn407Ser) c.1046A>G (p.Asn349Ser) c.1271A>G (p.Asn424Ser) c.1256A>G (p.Asn419Ser) c.1228A>G (p.Thr410Ala) n.1260A>G c.635A>G (p.Asn212Ser) c.1124A>G (p.Asn375Ser) c.721A>G (p.Thr241Ala) c.470A>G (p.Asn157Ser) c.319+2229A>G c.1354A>G (p.Thr452Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435583T>G | CA381701415 | DHCR7 | c.1220A>C (p.Asn407Thr) c.1046A>C (p.Asn349Thr) c.1271A>C (p.Asn424Thr) c.1256A>C (p.Asn419Thr) c.1228A>C (p.Thr410Pro) n.1260A>C c.635A>C (p.Asn212Thr) c.1124A>C (p.Asn375Thr) c.721A>C (p.Thr241Pro) c.470A>C (p.Asn157Thr) c.319+2229A>C c.1354A>C (p.Thr452Pro) | gnomAD v4 |
11 | g.71435583T= | CA1981486896 | DHCR7 | c.1220A= (p.Asn407=) c.1046A= (p.Asn349=) c.1271A= (p.Asn424=) c.1256A= (p.Asn419=) c.1228A= (p.Thr410=) n.1260A= c.635A= (p.Asn212=) c.1124A= (p.Asn375=) c.721A= (p.Thr241=) c.470A= (p.Asn157=) c.319+2229A= c.1354A= (p.Thr452=) | |
11 | g.71435584T>A | CA6162285 | DHCR7 | c.1219A>T (p.Asn407Tyr) c.1045A>T (p.Asn349Tyr) c.1270A>T (p.Asn424Tyr) c.1255A>T (p.Asn419Tyr) c.1227A>T (p.Ser409=) n.1259A>T c.634A>T (p.Asn212Tyr) c.1123A>T (p.Asn375Tyr) c.720A>T (p.Ser240=) c.469A>T (p.Asn157Tyr) c.319+2228A>T c.1353A>T (p.Ser451=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435584T>C | CA381701421 | DHCR7 | c.1219A>G (p.Asn407Asp) c.1045A>G (p.Asn349Asp) c.1270A>G (p.Asn424Asp) c.1255A>G (p.Asn419Asp) c.1227A>G (p.Ser409=) n.1259A>G c.634A>G (p.Asn212Asp) c.1123A>G (p.Asn375Asp) c.720A>G (p.Ser240=) c.469A>G (p.Asn157Asp) c.319+2228A>G c.1353A>G (p.Ser451=) | |
11 | g.71435584T>G | CA381701419 | DHCR7 | c.1219A>C (p.Asn407His) c.1045A>C (p.Asn349His) c.1270A>C (p.Asn424His) c.1255A>C (p.Asn419His) c.1227A>C (p.Ser409=) n.1259A>C c.634A>C (p.Asn212His) c.1123A>C (p.Asn375His) c.720A>C (p.Ser240=) c.469A>C (p.Asn157His) c.319+2228A>C c.1353A>C (p.Ser451=) | |
11 | g.71435584T= | CA1981486897 | DHCR7 | c.1219A= (p.Asn407=) c.1045A= (p.Asn349=) c.1270A= (p.Asn424=) c.1255A= (p.Asn419=) c.1227A= (p.Ser409=) n.1259A= c.634A= (p.Asn212=) c.1123A= (p.Asn375=) c.720A= (p.Ser240=) c.469A= (p.Asn157=) c.319+2228A= c.1353A= (p.Ser451=) | |
11 | g.71435585G>A | CA381701424 | DHCR7 | c.1218C>T (p.Phe406=) c.1044C>T (p.Phe348=) c.1269C>T (p.Phe423=) c.1254C>T (p.Phe418=) c.1226C>T (p.Ser409Leu) n.1258C>T c.633C>T (p.Phe211=) c.1122C>T (p.Phe374=) c.719C>T (p.Ser240Leu) c.468C>T (p.Phe156=) c.319+2227C>T c.1352C>T (p.Ser451Leu) | |
11 | g.71435585G>C | CA381701426 | DHCR7 | c.1218C>G (p.Phe406Leu) c.1044C>G (p.Phe348Leu) c.1269C>G (p.Phe423Leu) c.1254C>G (p.Phe418Leu) c.1226C>G (p.Ser409Ter) n.1258C>G c.633C>G (p.Phe211Leu) c.1122C>G (p.Phe374Leu) c.719C>G (p.Ser240Ter) c.468C>G (p.Phe156Leu) c.319+2227C>G c.1352C>G (p.Ser451Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.71435585G= | CA1981486898 | DHCR7 | c.1218C= (p.Phe406=) c.1044C= (p.Phe348=) c.1269C= (p.Phe423=) c.1254C= (p.Phe418=) c.1226C= (p.Ser409=) n.1258C= c.633C= (p.Phe211=) c.1122C= (p.Phe374=) c.719C= (p.Ser240=) c.468C= (p.Phe156=) c.319+2227C= c.1352C= (p.Ser451=) | |
11 | g.71435585G>T | CA381701427 | DHCR7 | c.1218C>A (p.Phe406Leu) c.1044C>A (p.Phe348Leu) c.1269C>A (p.Phe423Leu) c.1254C>A (p.Phe418Leu) c.1226C>A (p.Ser409Ter) n.1258C>A c.633C>A (p.Phe211Leu) c.1122C>A (p.Phe374Leu) c.719C>A (p.Ser240Ter) c.468C>A (p.Phe156Leu) c.319+2227C>A c.1352C>A (p.Ser451Ter) | |
11 | g.71435586A>C | CA381701429 | DHCR7 | c.1217T>G (p.Phe406Cys) c.1043T>G (p.Phe348Cys) c.1268T>G (p.Phe423Cys) c.1253T>G (p.Phe418Cys) c.1225T>G (p.Ser409Ala) n.1257T>G c.632T>G (p.Phe211Cys) c.1121T>G (p.Phe374Cys) c.718T>G (p.Ser240Ala) c.467T>G (p.Phe156Cys) c.319+2226T>G c.1351T>G (p.Ser451Ala) | |
11 | g.71435586A>G | CA381701431 | DHCR7 | c.1217T>C (p.Phe406Ser) c.1043T>C (p.Phe348Ser) c.1268T>C (p.Phe423Ser) c.1253T>C (p.Phe418Ser) c.1225T>C (p.Ser409Pro) n.1257T>C c.632T>C (p.Phe211Ser) c.1121T>C (p.Phe374Ser) c.718T>C (p.Ser240Pro) c.467T>C (p.Phe156Ser) c.319+2226T>C c.1351T>C (p.Ser451Pro) | |
11 | g.71435586A>T | CA381701433 | DHCR7 | c.1217T>A (p.Phe406Tyr) c.1043T>A (p.Phe348Tyr) c.1268T>A (p.Phe423Tyr) c.1253T>A (p.Phe418Tyr) c.1225T>A (p.Ser409Thr) n.1257T>A c.632T>A (p.Phe211Tyr) c.1121T>A (p.Phe374Tyr) c.718T>A (p.Ser240Thr) c.467T>A (p.Phe156Tyr) c.319+2226T>A c.1351T>A (p.Ser451Thr) | |
11 | g.71435587A>C | CA381701437 | DHCR7 | c.1216T>G (p.Phe406Val) c.1042T>G (p.Phe348Val) c.1267T>G (p.Phe423Val) c.1252T>G (p.Phe418Val) c.1224T>G (p.Thr408=) n.1256T>G c.631T>G (p.Phe211Val) c.1120T>G (p.Phe374Val) c.717T>G (p.Thr239=) c.466T>G (p.Phe156Val) c.319+2225T>G c.1350T>G (p.Thr450=) | |
11 | g.71435587A>G | CA381701436 | DHCR7 | c.1216T>C (p.Phe406Leu) c.1042T>C (p.Phe348Leu) c.1267T>C (p.Phe423Leu) c.1252T>C (p.Phe418Leu) c.1224T>C (p.Thr408=) n.1256T>C c.631T>C (p.Phe211Leu) c.1120T>C (p.Phe374Leu) c.717T>C (p.Thr239=) c.466T>C (p.Phe156Leu) c.319+2225T>C c.1350T>C (p.Thr450=) | gnomAD v4 |
11 | g.71435587A>T | CA381701435 | DHCR7 | c.1216T>A (p.Phe406Ile) c.1042T>A (p.Phe348Ile) c.1267T>A (p.Phe423Ile) c.1252T>A (p.Phe418Ile) c.1224T>A (p.Thr408=) n.1256T>A c.631T>A (p.Phe211Ile) c.1120T>A (p.Phe374Ile) c.717T>A (p.Thr239=) c.466T>A (p.Phe156Ile) c.319+2225T>A c.1350T>A (p.Thr450=) | |
11 | g.71435588G>A | CA381701438 | DHCR7 | c.1215C>T (p.His405=) c.1041C>T (p.His347=) c.1266C>T (p.His422=) c.1251C>T (p.His417=) c.1223C>T (p.Thr408Ile) n.1255C>T c.630C>T (p.His210=) c.1119C>T (p.His373=) c.716C>T (p.Thr239Ile) c.465C>T (p.His155=) c.319+2224C>T c.1349C>T (p.Thr450Ile) | |
11 | g.71435588G>C | CA6162286 | DHCR7 | c.1215C>G (p.His405Gln) c.1041C>G (p.His347Gln) c.1266C>G (p.His422Gln) c.1251C>G (p.His417Gln) c.1223C>G (p.Thr408Ser) n.1255C>G c.630C>G (p.His210Gln) c.1119C>G (p.His373Gln) c.716C>G (p.Thr239Ser) c.465C>G (p.His155Gln) c.319+2224C>G c.1349C>G (p.Thr450Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435588G= | CA1981486899 | DHCR7 | c.1215C= (p.His405=) c.1041C= (p.His347=) c.1266C= (p.His422=) c.1251C= (p.His417=) c.1223C= (p.Thr408=) n.1255C= c.630C= (p.His210=) c.1119C= (p.His373=) c.716C= (p.Thr239=) c.465C= (p.His155=) c.319+2224C= c.1349C= (p.Thr450=) | |
11 | g.71435588G>T | CA381701441 | DHCR7 | c.1215C>A (p.His405Gln) c.1041C>A (p.His347Gln) c.1266C>A (p.His422Gln) c.1251C>A (p.His417Gln) c.1223C>A (p.Thr408Asn) n.1255C>A c.630C>A (p.His210Gln) c.1119C>A (p.His373Gln) c.716C>A (p.Thr239Asn) c.465C>A (p.His155Gln) c.319+2224C>A c.1349C>A (p.Thr450Asn) | |
11 | g.71435588_71435589delinsGT | CA1981486900 | DHCR7 | c.1214_1215delinsAC (p.His405=) c.1040_1041delinsAC (p.His347=) c.1265_1266delinsAC (p.His422=) c.1250_1251delinsAC (p.His417=) c.1222_1223delinsAC (p.Thr408=) n.1254_1255delinsAC c.629_630delinsAC (p.His210=) c.1118_1119delinsAC (p.His373=) c.715_716delinsAC (p.Thr239=) c.464_465delinsAC (p.His155=) c.319+2223_319+2224delinsAC c.1348_1349delinsAC (p.Thr450=) | |
11 | g.71435589del | CA679810785 | DHCR7 | c.1214del (p.His405ProfsTer8) c.1040del (p.His347ProfsTer8) c.1265del (p.His422ProfsTer8) c.1250del (p.His417ProfsTer8) c.1222del (p.Thr408LeufsTer?) n.1254del c.629del (p.His210ProfsTer8) c.1118del (p.His373ProfsTer8) c.715del (p.Thr239LeufsTer?) c.464del (p.His155ProfsTer8) c.319+2223del c.1348del (p.Thr450LeufsTer?) | ClinVar dbSNP |
11 | g.71435589T>A | CA381701444 | DHCR7 | c.1214A>T (p.His405Leu) c.1040A>T (p.His347Leu) c.1265A>T (p.His422Leu) c.1250A>T (p.His417Leu) c.1222A>T (p.Thr408Ser) n.1254A>T c.629A>T (p.His210Leu) c.1118A>T (p.His373Leu) c.715A>T (p.Thr239Ser) c.464A>T (p.His155Leu) c.319+2223A>T c.1348A>T (p.Thr450Ser) | |
11 | g.71435589T>C | CA381701446 | DHCR7 | c.1214A>G (p.His405Arg) c.1040A>G (p.His347Arg) c.1265A>G (p.His422Arg) c.1250A>G (p.His417Arg) c.1222A>G (p.Thr408Ala) n.1254A>G c.629A>G (p.His210Arg) c.1118A>G (p.His373Arg) c.715A>G (p.Thr239Ala) c.464A>G (p.His155Arg) c.319+2223A>G c.1348A>G (p.Thr450Ala) | dbSNP |
11 | g.71435589T>G | CA381701448 | DHCR7 | c.1214A>C (p.His405Pro) c.1040A>C (p.His347Pro) c.1265A>C (p.His422Pro) c.1250A>C (p.His417Pro) c.1222A>C (p.Thr408Pro) n.1254A>C c.629A>C (p.His210Pro) c.1118A>C (p.His373Pro) c.715A>C (p.Thr239Pro) c.464A>C (p.His155Pro) c.319+2223A>C c.1348A>C (p.Thr450Pro) | |
11 | g.71435589T= | CA1981486901 | DHCR7 | c.1214A= (p.His405=) c.1040A= (p.His347=) c.1265A= (p.His422=) c.1250A= (p.His417=) c.1222A= (p.Thr408=) n.1254A= c.629A= (p.His210=) c.1118A= (p.His373=) c.715A= (p.Thr239=) c.464A= (p.His155=) c.319+2223A= c.1348A= (p.Thr450=) | |
11 | g.71435590G>A | CA381701450 | DHCR7 | c.1213C>T (p.His405Tyr) c.1039C>T (p.His347Tyr) c.1264C>T (p.His422Tyr) c.1249C>T (p.His417Tyr) c.1221C>T (p.Ala407=) n.1253C>T c.628C>T (p.His210Tyr) c.1117C>T (p.His373Tyr) c.714C>T (p.Ala238=) c.463C>T (p.His155Tyr) c.319+2222C>T c.1347C>T (p.Ala449=) | |
11 | g.71435590G>C | CA381701454 | DHCR7 | c.1213C>G (p.His405Asp) c.1039C>G (p.His347Asp) c.1264C>G (p.His422Asp) c.1249C>G (p.His417Asp) c.1221C>G (p.Ala407=) n.1253C>G c.628C>G (p.His210Asp) c.1117C>G (p.His373Asp) c.714C>G (p.Ala238=) c.463C>G (p.His155Asp) c.319+2222C>G c.1347C>G (p.Ala449=) | |
11 | g.71435590G>T | CA381701452 | DHCR7 | c.1213C>A (p.His405Asn) c.1039C>A (p.His347Asn) c.1264C>A (p.His422Asn) c.1249C>A (p.His417Asn) c.1221C>A (p.Ala407=) n.1253C>A c.628C>A (p.His210Asn) c.1117C>A (p.His373Asn) c.714C>A (p.Ala238=) c.463C>A (p.His155Asn) c.319+2222C>A c.1347C>A (p.Ala449=) | gnomAD v4 |
11 | g.71435591G>A | CA381701456 | DHCR7 | c.1212C>T (p.Arg404=) c.1038C>T (p.Arg346=) c.1263C>T (p.Arg421=) c.1248C>T (p.Arg416=) c.1220C>T (p.Ala407Val) n.1252C>T c.627C>T (p.Arg209=) c.1116C>T (p.Arg372=) c.713C>T (p.Ala238Val) c.462C>T (p.Arg154=) c.319+2221C>T c.1346C>T (p.Ala449Val) | ClinVar |
11 | g.71435591G>C | CA381701458 | DHCR7 | c.1212C>G (p.Arg404=) c.1038C>G (p.Arg346=) c.1263C>G (p.Arg421=) c.1248C>G (p.Arg416=) c.1220C>G (p.Ala407Gly) n.1252C>G c.627C>G (p.Arg209=) c.1116C>G (p.Arg372=) c.713C>G (p.Ala238Gly) c.462C>G (p.Arg154=) c.319+2221C>G c.1346C>G (p.Ala449Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435591G= | CA1981486902 | DHCR7 | c.1212C= (p.Arg404=) c.1038C= (p.Arg346=) c.1263C= (p.Arg421=) c.1248C= (p.Arg416=) c.1220C= (p.Ala407=) n.1252C= c.627C= (p.Arg209=) c.1116C= (p.Arg372=) c.713C= (p.Ala238=) c.462C= (p.Arg154=) c.319+2221C= c.1346C= (p.Ala449=) | |
11 | g.71435591G>T | CA381701460 | DHCR7 | c.1212C>A (p.Arg404=) c.1038C>A (p.Arg346=) c.1263C>A (p.Arg421=) c.1248C>A (p.Arg416=) c.1220C>A (p.Ala407Asp) n.1252C>A c.627C>A (p.Arg209=) c.1116C>A (p.Arg372=) c.713C>A (p.Ala238Asp) c.462C>A (p.Arg154=) c.319+2221C>A c.1346C>A (p.Ala449Asp) | gnomAD v4 |
11 | g.71435592del | CA2842972955 | DHCR7 | c.1211del (p.Arg404ProfsTer9) c.1037del (p.Arg346ProfsTer9) c.1262del (p.Arg421ProfsTer9) c.1247del (p.Arg416ProfsTer9) c.1219del (p.Ala407ProfsTer?) n.1251del c.626del (p.Arg209ProfsTer9) c.1115del (p.Arg372ProfsTer9) c.712del (p.Ala238ProfsTer?) c.461del (p.Arg154ProfsTer9) c.319+2220del c.1345del (p.Ala449ProfsTer?) | |
11 | g.71435592C>A | CA381701462 | DHCR7 | c.1211G>T (p.Arg404Leu) c.1037G>T (p.Arg346Leu) c.1262G>T (p.Arg421Leu) c.1247G>T (p.Arg416Leu) c.1219G>T (p.Ala407Ser) n.1251G>T c.626G>T (p.Arg209Leu) c.1115G>T (p.Arg372Leu) c.712G>T (p.Ala238Ser) c.461G>T (p.Arg154Leu) c.319+2220G>T c.1345G>T (p.Ala449Ser) | |
11 | g.71435592C= | CA1981486903 | DHCR7 | c.1211G= (p.Arg404=) c.1037G= (p.Arg346=) c.1262G= (p.Arg421=) c.1247G= (p.Arg416=) c.1219G= (p.Ala407=) n.1251G= c.626G= (p.Arg209=) c.1115G= (p.Arg372=) c.712G= (p.Ala238=) c.461G= (p.Arg154=) c.319+2220G= c.1345G= (p.Ala449=) | |
11 | g.71435592C>G | CA381701464 | DHCR7 | c.1211G>C (p.Arg404Pro) c.1037G>C (p.Arg346Pro) c.1262G>C (p.Arg421Pro) c.1247G>C (p.Arg416Pro) c.1219G>C (p.Ala407Pro) n.1251G>C c.626G>C (p.Arg209Pro) c.1115G>C (p.Arg372Pro) c.712G>C (p.Ala238Pro) c.461G>C (p.Arg154Pro) c.319+2220G>C c.1345G>C (p.Ala449Pro) | |
11 | g.71435592C>T | CA381701465 | DHCR7 | c.1211G>A (p.Arg404His) c.1037G>A (p.Arg346His) c.1262G>A (p.Arg421His) c.1247G>A (p.Arg416His) c.1219G>A (p.Ala407Thr) n.1251G>A c.626G>A (p.Arg209His) c.1115G>A (p.Arg372His) c.712G>A (p.Ala238Thr) c.461G>A (p.Arg154His) c.319+2220G>A c.1345G>A (p.Ala449Thr) | ClinVar dbSNP gnomAD v4 |