OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.102830857_102830858delinsAG | CA1932866918 | CYP17A1,WBP1L | c.1371_1372delinsCT (p.Ala457=) c.1068_1069delinsCT (p.Ala356=) c.915_916delinsCT (p.Ala305=) c.1284_1285delinsCT (p.Ala428=) c.1374_1375delinsCT (p.Ala458=) n.1133_1134delinsCT c.*539_*540delinsAG (n.*539_*540delinsAG) | |
| 10 | g.102830858G>A | CA471287169 | CYP17A1,WBP1L | c.1371C>T (p.Ala457=) c.1068C>T (p.Ala356=) c.915C>T (p.Ala305=) c.1284C>T (p.Ala428=) c.1374C>T (p.Ala458=) n.1133C>T c.*540G>A (n.*540G>A) | dbSNP gnomAD v2 |
| 10 | g.102830858G>C | CA471287170 | CYP17A1,WBP1L | c.1371C>G (p.Ala457=) c.1068C>G (p.Ala356=) c.915C>G (p.Ala305=) c.1284C>G (p.Ala428=) c.1374C>G (p.Ala458=) n.1133C>G c.*540G>C (n.*540G>C) | |
| 10 | g.102830858G= | CA1932866922 | CYP17A1,WBP1L | c.1371C= (p.Ala457=) c.1068C= (p.Ala356=) c.915C= (p.Ala305=) c.1284C= (p.Ala428=) c.1374C= (p.Ala458=) n.1133C= c.*540G= (n.*540G=) | |
| 10 | g.102830858G>T | CA471287171 | CYP17A1,WBP1L | c.1371C>A (p.Ala457=) c.1068C>A (p.Ala356=) c.915C>A (p.Ala305=) c.1284C>A (p.Ala428=) c.1374C>A (p.Ala458=) n.1133C>A c.*540G>T (n.*540G>T) | gnomAD v4 |
| 10 | g.102830859del | CA5669332 | CYP17A1,WBP1L | c.1371del (p.Trp458GlyfsTer28) c.1068del (p.Trp357GlyfsTer28) c.915del (p.Trp306GlyfsTer28) c.1284del (p.Trp429GlyfsTer28) c.1374del (p.Trp459GlyfsTer28) n.1133del c.*541del (n.*541del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.102830859G>A | CA377938123 | CYP17A1,WBP1L | c.1370C>T (p.Ala457Val) c.1067C>T (p.Ala356Val) c.914C>T (p.Ala305Val) c.1283C>T (p.Ala428Val) c.1373C>T (p.Ala458Val) n.1132C>T c.*541G>A (n.*541G>A) | gnomAD v4 |
| 10 | g.102830859G>C | CA377938124 | CYP17A1,WBP1L | c.1370C>G (p.Ala457Gly) c.1067C>G (p.Ala356Gly) c.914C>G (p.Ala305Gly) c.1283C>G (p.Ala428Gly) c.1373C>G (p.Ala458Gly) n.1132C>G c.*541G>C (n.*541G>C) | |
| 10 | g.102830859G>T | CA377938125 | CYP17A1,WBP1L | c.1370C>A (p.Ala457Asp) c.1067C>A (p.Ala356Asp) c.914C>A (p.Ala305Asp) c.1283C>A (p.Ala428Asp) c.1373C>A (p.Ala458Asp) n.1132C>A c.*541G>T (n.*541G>T) | gnomAD v4 |
| 10 | g.102830860C>A | CA377938126 | CYP17A1,WBP1L | c.1369G>T (p.Ala457Ser) c.1066G>T (p.Ala356Ser) c.913G>T (p.Ala305Ser) c.1282G>T (p.Ala428Ser) c.1372G>T (p.Ala458Ser) n.1131G>T c.*542C>A (n.*542C>A) | gnomAD v4 |
| 10 | g.102830860C= | CA1932866927 | CYP17A1,WBP1L | c.1369G= (p.Ala457=) c.1066G= (p.Ala356=) c.913G= (p.Ala305=) c.1282G= (p.Ala428=) c.1372G= (p.Ala458=) n.1131G= c.*542C= (n.*542C=) | |
| 10 | g.102830860C>G | CA377938127 | CYP17A1,WBP1L | c.1369G>C (p.Ala457Pro) c.1066G>C (p.Ala356Pro) c.913G>C (p.Ala305Pro) c.1282G>C (p.Ala428Pro) c.1372G>C (p.Ala458Pro) n.1131G>C c.*542C>G (n.*542C>G) | |
| 10 | g.102830860C>T | CA377938128 | CYP17A1,WBP1L | c.1369G>A (p.Ala457Thr) c.1066G>A (p.Ala356Thr) c.913G>A (p.Ala305Thr) c.1282G>A (p.Ala428Thr) c.1372G>A (p.Ala458Thr) n.1131G>A c.*542C>T (n.*542C>T) | dbSNP COSMIC |
| 10 | g.102830861C>A | CA377938129 | CYP17A1,WBP1L | c.1368G>T (p.Met456Ile) c.1065G>T (p.Met355Ile) c.912G>T (p.Met304Ile) c.1281G>T (p.Met427Ile) c.1371G>T (p.Met457Ile) n.1130G>T c.*543C>A (n.*543C>A) | |
| 10 | g.102830861C= | CA1932866931 | CYP17A1,WBP1L | c.1368G= (p.Met456=) c.1065G= (p.Met355=) c.912G= (p.Met304=) c.1281G= (p.Met427=) c.1371G= (p.Met457=) n.1130G= c.*543C= (n.*543C=) | |
| 10 | g.102830861C>G | CA5669333 | CYP17A1,WBP1L | c.1368G>C (p.Met456Ile) c.1065G>C (p.Met355Ile) c.912G>C (p.Met304Ile) c.1281G>C (p.Met427Ile) c.1371G>C (p.Met457Ile) n.1130G>C c.*543C>G (n.*543C>G) | dbSNP ExAC gnomAD v2 |
| 10 | g.102830861C>T | CA377938130 | CYP17A1,WBP1L | c.1368G>A (p.Met456Ile) c.1065G>A (p.Met355Ile) c.912G>A (p.Met304Ile) c.1281G>A (p.Met427Ile) c.1371G>A (p.Met457Ile) n.1130G>A c.*543C>T (n.*543C>T) | |
| 10 | g.102830862A= | CA1932866933 | CYP17A1,WBP1L | c.1367T= (p.Met456=) c.1064T= (p.Met355=) c.911T= (p.Met304=) c.1280T= (p.Met427=) c.1370T= (p.Met457=) n.1129T= c.*544A= (n.*544A=) | |
| 10 | g.102830862A>C | CA377938131 | CYP17A1,WBP1L | c.1367T>G (p.Met456Arg) c.1064T>G (p.Met355Arg) c.911T>G (p.Met304Arg) c.1280T>G (p.Met427Arg) c.1370T>G (p.Met457Arg) n.1129T>G c.*544A>C (n.*544A>C) | |
| 10 | g.102830862A>G | CA377938132 | CYP17A1,WBP1L | c.1367T>C (p.Met456Thr) c.1064T>C (p.Met355Thr) c.911T>C (p.Met304Thr) c.1280T>C (p.Met427Thr) c.1370T>C (p.Met457Thr) n.1129T>C c.*544A>G (n.*544A>G) | dbSNP |
| 10 | g.102830862A>T | CA377938133 | CYP17A1,WBP1L | c.1367T>A (p.Met456Lys) c.1064T>A (p.Met355Lys) c.911T>A (p.Met304Lys) c.1280T>A (p.Met427Lys) c.1370T>A (p.Met457Lys) n.1129T>A c.*544A>T (n.*544A>T) | gnomAD v4 |
| 10 | g.102830863T>A | CA377938135 | CYP17A1,WBP1L | c.1366A>T (p.Met456Leu) c.1063A>T (p.Met355Leu) c.910A>T (p.Met304Leu) c.1279A>T (p.Met427Leu) c.1369A>T (p.Met457Leu) n.1128A>T c.*545T>A (n.*545T>A) | |
| 10 | g.102830863T>C | CA212290787 | CYP17A1,WBP1L | c.1366A>G (p.Met456Val) c.1063A>G (p.Met355Val) c.910A>G (p.Met304Val) c.1279A>G (p.Met427Val) c.1369A>G (p.Met457Val) n.1128A>G c.*545T>C (n.*545T>C) | dbSNP gnomAD v4 |
| 10 | g.102830863T>G | CA377938134 | CYP17A1,WBP1L | c.1366A>C (p.Met456Leu) c.1063A>C (p.Met355Leu) c.910A>C (p.Met304Leu) c.1279A>C (p.Met427Leu) c.1369A>C (p.Met457Leu) n.1128A>C c.*545T>G (n.*545T>G) | |
| 10 | g.102830863T= | CA1932866938 | CYP17A1,WBP1L | c.1366A= (p.Met456=) c.1063A= (p.Met355=) c.910A= (p.Met304=) c.1279A= (p.Met427=) c.1369A= (p.Met457=) n.1128A= c.*545T= (n.*545T=) | |
| 10 | g.102830864G>A | CA471287175 | CYP17A1,WBP1L | c.1365C>T (p.Ile455=) c.1062C>T (p.Ile354=) c.909C>T (p.Ile303=) c.1278C>T (p.Ile426=) c.1368C>T (p.Ile456=) n.1127C>T c.*546G>A (n.*546G>A) | |
| 10 | g.102830864G>C | CA377938136 | CYP17A1,WBP1L | c.1365C>G (p.Ile455Met) c.1062C>G (p.Ile354Met) c.909C>G (p.Ile303Met) c.1278C>G (p.Ile426Met) c.1368C>G (p.Ile456Met) n.1127C>G c.*546G>C (n.*546G>C) | |
| 10 | g.102830864G>T | CA471287176 | CYP17A1,WBP1L | c.1365C>A (p.Ile455=) c.1062C>A (p.Ile354=) c.909C>A (p.Ile303=) c.1278C>A (p.Ile426=) c.1368C>A (p.Ile456=) n.1127C>A c.*546G>T (n.*546G>T) | gnomAD v4 |
| 10 | g.102830865A= | CA1932866943 | CYP17A1,WBP1L | c.1364T= (p.Ile455=) c.1061T= (p.Ile354=) c.908T= (p.Ile303=) c.1277T= (p.Ile426=) c.1367T= (p.Ile456=) n.1126T= c.*547A= (n.*547A=) | |
| 10 | g.102830865A>C | CA377938137 | CYP17A1,WBP1L | c.1364T>G (p.Ile455Ser) c.1061T>G (p.Ile354Ser) c.908T>G (p.Ile303Ser) c.1277T>G (p.Ile426Ser) c.1367T>G (p.Ile456Ser) n.1126T>G c.*547A>C (n.*547A>C) | |
| 10 | g.102830865A>G | CA377938138 | CYP17A1,WBP1L | c.1364T>C (p.Ile455Thr) c.1061T>C (p.Ile354Thr) c.908T>C (p.Ile303Thr) c.1277T>C (p.Ile426Thr) c.1367T>C (p.Ile456Thr) n.1126T>C c.*547A>G (n.*547A>G) | dbSNP |
| 10 | g.102830865A>T | CA377938139 | CYP17A1,WBP1L | c.1364T>A (p.Ile455Asn) c.1061T>A (p.Ile354Asn) c.908T>A (p.Ile303Asn) c.1277T>A (p.Ile426Asn) c.1367T>A (p.Ile456Asn) n.1126T>A c.*547A>T (n.*547A>T) | gnomAD v4 |
| 10 | g.102830866T>A | CA377938140 | CYP17A1,WBP1L | c.1363A>T (p.Ile455Phe) c.1060A>T (p.Ile354Phe) c.907A>T (p.Ile303Phe) c.1276A>T (p.Ile426Phe) c.1366A>T (p.Ile456Phe) n.1125A>T c.*548T>A (n.*548T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.102830866T>C | CA5669335 | CYP17A1,WBP1L | c.1363A>G (p.Ile455Val) c.1060A>G (p.Ile354Val) c.907A>G (p.Ile303Val) c.1276A>G (p.Ile426Val) c.1366A>G (p.Ile456Val) n.1125A>G c.*548T>C (n.*548T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.102830866T>G | CA5669334 | CYP17A1,WBP1L | c.1363A>C (p.Ile455Leu) c.1060A>C (p.Ile354Leu) c.907A>C (p.Ile303Leu) c.1276A>C (p.Ile426Leu) c.1366A>C (p.Ile456Leu) n.1125A>C c.*548T>G (n.*548T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.102830866T= | CA1932866955 | CYP17A1,WBP1L | c.1363A= (p.Ile455=) c.1060A= (p.Ile354=) c.907A= (p.Ile303=) c.1276A= (p.Ile426=) c.1366A= (p.Ile456=) n.1125A= c.*548T= (n.*548T=) | |
| 10 | g.102830867G>A | CA471287178 | CYP17A1,WBP1L | c.1362C>T (p.Leu454=) c.1059C>T (p.Leu353=) c.906C>T (p.Leu302=) c.1275C>T (p.Leu425=) c.1365C>T (p.Leu455=) n.1124C>T c.*549G>A (n.*549G>A) | ClinVar gnomAD v4 |
| 10 | g.102830867G>C | CA471287179 | CYP17A1,WBP1L | c.1362C>G (p.Leu454=) c.1059C>G (p.Leu353=) c.906C>G (p.Leu302=) c.1275C>G (p.Leu425=) c.1365C>G (p.Leu455=) n.1124C>G c.*549G>C (n.*549G>C) | |
| 10 | g.102830867G>T | CA471287180 | CYP17A1,WBP1L | c.1362C>A (p.Leu454=) c.1059C>A (p.Leu353=) c.906C>A (p.Leu302=) c.1275C>A (p.Leu425=) c.1365C>A (p.Leu455=) n.1124C>A c.*549G>T (n.*549G>T) | gnomAD v4 |
| 10 | g.102830868A>C | CA377938143 | CYP17A1,WBP1L | c.1361T>G (p.Leu454Arg) c.1058T>G (p.Leu353Arg) c.905T>G (p.Leu302Arg) c.1274T>G (p.Leu425Arg) c.1364T>G (p.Leu455Arg) n.1123T>G c.*550A>C (n.*550A>C) | |
| 10 | g.102830868A>G | CA377938141 | CYP17A1,WBP1L | c.1361T>C (p.Leu454Pro) c.1058T>C (p.Leu353Pro) c.905T>C (p.Leu302Pro) c.1274T>C (p.Leu425Pro) c.1364T>C (p.Leu455Pro) n.1123T>C c.*550A>G (n.*550A>G) | |
| 10 | g.102830868A>T | CA377938142 | CYP17A1,WBP1L | c.1361T>A (p.Leu454His) c.1058T>A (p.Leu353His) c.905T>A (p.Leu302His) c.1274T>A (p.Leu425His) c.1364T>A (p.Leu455His) n.1123T>A c.*550A>T (n.*550A>T) | |
| 10 | g.102830869G>A | CA212290796 | CYP17A1,WBP1L | c.1360C>T (p.Leu454Phe) c.1057C>T (p.Leu353Phe) c.904C>T (p.Leu302Phe) c.1273C>T (p.Leu425Phe) c.1363C>T (p.Leu455Phe) n.1122C>T c.*551G>A (n.*551G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.102830869G>C | CA377938144 | CYP17A1,WBP1L | c.1360C>G (p.Leu454Val) c.1057C>G (p.Leu353Val) c.904C>G (p.Leu302Val) c.1273C>G (p.Leu425Val) c.1363C>G (p.Leu455Val) n.1122C>G c.*551G>C (n.*551G>C) | |
| 10 | g.102830869G= | CA1932866958 | CYP17A1,WBP1L | c.1360C= (p.Leu454=) c.1057C= (p.Leu353=) c.904C= (p.Leu302=) c.1273C= (p.Leu425=) c.1363C= (p.Leu455=) n.1122C= c.*551G= (n.*551G=) | |
| 10 | g.102830869G>T | CA377938145 | CYP17A1,WBP1L | c.1360C>A (p.Leu454Ile) c.1057C>A (p.Leu353Ile) c.904C>A (p.Leu302Ile) c.1273C>A (p.Leu425Ile) c.1363C>A (p.Leu455Ile) n.1122C>A c.*551G>T (n.*551G>T) | |
| 10 | g.102830870G>A | CA471287181 | CYP17A1,WBP1L | c.1359C>T (p.Phe453=) c.1056C>T (p.Phe352=) c.903C>T (p.Phe301=) c.1272C>T (p.Phe424=) c.1362C>T (p.Phe454=) n.1121C>T c.*552G>A (n.*552G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102830870G>C | CA377938146 | CYP17A1,WBP1L | c.1359C>G (p.Phe453Leu) c.1056C>G (p.Phe352Leu) c.903C>G (p.Phe301Leu) c.1272C>G (p.Phe424Leu) c.1362C>G (p.Phe454Leu) n.1121C>G c.*552G>C (n.*552G>C) | |
| 10 | g.102830870G= | CA1932866963 | CYP17A1,WBP1L | c.1359C= (p.Phe453=) c.1056C= (p.Phe352=) c.903C= (p.Phe301=) c.1272C= (p.Phe424=) c.1362C= (p.Phe454=) n.1121C= c.*552G= (n.*552G=) | |
| 10 | g.102830870G>T | CA377938147 | CYP17A1,WBP1L | c.1359C>A (p.Phe453Leu) c.1056C>A (p.Phe352Leu) c.903C>A (p.Phe301Leu) c.1272C>A (p.Phe424Leu) c.1362C>A (p.Phe454Leu) n.1121C>A c.*552G>T (n.*552G>T) | gnomAD v4 |
| 10 | g.102830871A= | CA1932866979 | CYP17A1,WBP1L | c.1358T= (p.Phe453=) c.1055T= (p.Phe352=) c.902T= (p.Phe301=) c.1271T= (p.Phe424=) c.1361T= (p.Phe454=) n.1120T= c.*553A= (n.*553A=) | |
| 10 | g.102830871A>C | CA377938148 | CYP17A1,WBP1L | c.1358T>G (p.Phe453Cys) c.1055T>G (p.Phe352Cys) c.902T>G (p.Phe301Cys) c.1271T>G (p.Phe424Cys) c.1361T>G (p.Phe454Cys) n.1120T>G c.*553A>C (n.*553A>C) | |
| 10 | g.102830871A>G | CA115205 | CYP17A1,WBP1L | c.1358T>C (p.Phe453Ser) c.1055T>C (p.Phe352Ser) c.902T>C (p.Phe301Ser) c.1271T>C (p.Phe424Ser) c.1361T>C (p.Phe454Ser) n.1120T>C c.*553A>G (n.*553A>G) | ClinVar dbSNP |
| 10 | g.102830871A>T | CA377938149 | CYP17A1,WBP1L | c.1358T>A (p.Phe453Tyr) c.1055T>A (p.Phe352Tyr) c.902T>A (p.Phe301Tyr) c.1271T>A (p.Phe424Tyr) c.1361T>A (p.Phe454Tyr) n.1120T>A c.*553A>T (n.*553A>T) | |
| 10 | g.102830872A>C | CA377938150 | CYP17A1,WBP1L | c.1357T>G (p.Phe453Val) c.1054T>G (p.Phe352Val) c.901T>G (p.Phe301Val) c.1270T>G (p.Phe424Val) c.1360T>G (p.Phe454Val) n.1119T>G c.*554A>C (n.*554A>C) | |
| 10 | g.102830872A>G | CA377938151 | CYP17A1,WBP1L | c.1357T>C (p.Phe453Leu) c.1054T>C (p.Phe352Leu) c.901T>C (p.Phe301Leu) c.1270T>C (p.Phe424Leu) c.1360T>C (p.Phe454Leu) n.1119T>C c.*554A>G (n.*554A>G) | gnomAD v4 |
| 10 | g.102830872A>T | CA377938152 | CYP17A1,WBP1L | c.1357T>A (p.Phe453Ile) c.1054T>A (p.Phe352Ile) c.901T>A (p.Phe301Ile) c.1270T>A (p.Phe424Ile) c.1360T>A (p.Phe454Ile) n.1119T>A c.*554A>T (n.*554A>T) | |
| 10 | g.102830873G>A | CA471287267 | CYP17A1,WBP1L | c.1356C>T (p.Leu452=) c.1053C>T (p.Leu351=) c.900C>T (p.Leu300=) c.1269C>T (p.Leu423=) c.1359C>T (p.Leu453=) n.1118C>T c.*555G>A (n.*555G>A) | |
| 10 | g.102830873G>C | CA471287268 | CYP17A1,WBP1L | c.1356C>G (p.Leu452=) c.1053C>G (p.Leu351=) c.900C>G (p.Leu300=) c.1269C>G (p.Leu423=) c.1359C>G (p.Leu453=) n.1118C>G c.*555G>C (n.*555G>C) | |
| 10 | g.102830873G= | CA1932866986 | CYP17A1,WBP1L | c.1356C= (p.Leu452=) c.1053C= (p.Leu351=) c.900C= (p.Leu300=) c.1269C= (p.Leu423=) c.1359C= (p.Leu453=) n.1118C= c.*555G= (n.*555G=) | |
| 10 | g.102830873G>T | CA471287269 | CYP17A1,WBP1L | c.1356C>A (p.Leu452=) c.1053C>A (p.Leu351=) c.900C>A (p.Leu300=) c.1269C>A (p.Leu423=) c.1359C>A (p.Leu453=) n.1118C>A c.*555G>T (n.*555G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102830874A>C | CA377938153 | CYP17A1,WBP1L | c.1355T>G (p.Leu452Arg) c.1052T>G (p.Leu351Arg) c.899T>G (p.Leu300Arg) c.1268T>G (p.Leu423Arg) c.1358T>G (p.Leu453Arg) n.1117T>G c.*556A>C (n.*556A>C) | |
| 10 | g.102830874A>G | CA377938154 | CYP17A1,WBP1L | c.1355T>C (p.Leu452Pro) c.1052T>C (p.Leu351Pro) c.899T>C (p.Leu300Pro) c.1268T>C (p.Leu423Pro) c.1358T>C (p.Leu453Pro) n.1117T>C c.*556A>G (n.*556A>G) | |
| 10 | g.102830874A>T | CA377938155 | CYP17A1,WBP1L | c.1355T>A (p.Leu452His) c.1052T>A (p.Leu351His) c.899T>A (p.Leu300His) c.1268T>A (p.Leu423His) c.1358T>A (p.Leu453His) n.1117T>A c.*556A>T (n.*556A>T) | |
| 10 | g.102830874_102830875delinsAG | CA1932866991 | CYP17A1,WBP1L | c.1354_1355delinsCT (p.Leu452=) c.1051_1052delinsCT (p.Leu351=) c.898_899delinsCT (p.Leu300=) c.1267_1268delinsCT (p.Leu423=) c.1357_1358delinsCT (p.Leu453=) n.1116_1117delinsCT c.*556_*557delinsAG (n.*556_*557delinsAG) | |
| 10 | g.102830875del | CA1932867001 | CYP17A1,WBP1L | c.1354del (p.Leu452SerfsTer?) c.1051del (p.Leu351SerfsTer?) c.898del (p.Leu300SerfsTer?) c.1267del (p.Leu423SerfsTer?) c.1357del (p.Leu453SerfsTer?) n.1116del c.*557del (n.*557del) | dbSNP |
| 10 | g.102830875G>A | CA377938156 | CYP17A1,WBP1L | c.1354C>T (p.Leu452Phe) c.1051C>T (p.Leu351Phe) c.898C>T (p.Leu300Phe) c.1267C>T (p.Leu423Phe) c.1357C>T (p.Leu453Phe) n.1116C>T c.*557G>A (n.*557G>A) | |
| 10 | g.102830875G>C | CA377938157 | CYP17A1,WBP1L | c.1354C>G (p.Leu452Val) c.1051C>G (p.Leu351Val) c.898C>G (p.Leu300Val) c.1267C>G (p.Leu423Val) c.1357C>G (p.Leu453Val) n.1116C>G c.*557G>C (n.*557G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.102830875G= | CA1932866996 | CYP17A1,WBP1L | c.1354C= (p.Leu452=) c.1051C= (p.Leu351=) c.898C= (p.Leu300=) c.1267C= (p.Leu423=) c.1357C= (p.Leu453=) n.1116C= c.*557G= (n.*557G=) | |
| 10 | g.102830875G>T | CA377938158 | CYP17A1,WBP1L | c.1354C>A (p.Leu452Ile) c.1051C>A (p.Leu351Ile) c.898C>A (p.Leu300Ile) c.1267C>A (p.Leu423Ile) c.1357C>A (p.Leu453Ile) n.1116C>A c.*557G>T (n.*557G>T) | gnomAD v4 |
| 10 | g.102830876C>A | CA377938159 | CYP17A1,WBP1L | c.1353G>T (p.Glu451Asp) c.1050G>T (p.Glu350Asp) c.897G>T (p.Glu299Asp) c.1266G>T (p.Glu422Asp) c.1356G>T (p.Glu452Asp) n.1115G>T c.*558C>A (n.*558C>A) | gnomAD v4 |
| 10 | g.102830876C= | CA1932867025 | CYP17A1,WBP1L | c.1353G= (p.Glu451=) c.1050G= (p.Glu350=) c.897G= (p.Glu299=) c.1266G= (p.Glu422=) c.1356G= (p.Glu452=) n.1115G= c.*558C= (n.*558C=) | |
| 10 | g.102830876C>G | CA377938160 | CYP17A1,WBP1L | c.1353G>C (p.Glu451Asp) c.1050G>C (p.Glu350Asp) c.897G>C (p.Glu299Asp) c.1266G>C (p.Glu422Asp) c.1356G>C (p.Glu452Asp) n.1115G>C c.*558C>G (n.*558C>G) | |
| 10 | g.102830876C>T | CA5669336 | CYP17A1,WBP1L | c.1353G>A (p.Glu451=) c.1050G>A (p.Glu350=) c.897G>A (p.Glu299=) c.1266G>A (p.Glu422=) c.1356G>A (p.Glu452=) n.1115G>A c.*558C>T (n.*558C>T) | ClinVar dbSNP ExAC gnomAD v4 |
| 10 | g.102830877T>A | CA377938162 | CYP17A1,WBP1L | c.1352A>T (p.Glu451Val) c.1049A>T (p.Glu350Val) c.896A>T (p.Glu299Val) c.1265A>T (p.Glu422Val) c.1355A>T (p.Glu452Val) n.1114A>T c.*559T>A (n.*559T>A) | |
| 10 | g.102830877T>C | CA377938161 | CYP17A1,WBP1L | c.1352A>G (p.Glu451Gly) c.1049A>G (p.Glu350Gly) c.896A>G (p.Glu299Gly) c.1265A>G (p.Glu422Gly) c.1355A>G (p.Glu452Gly) n.1114A>G c.*559T>C (n.*559T>C) | |
| 10 | g.102830877T>G | CA5669337 | CYP17A1,WBP1L | c.1352A>C (p.Glu451Ala) c.1049A>C (p.Glu350Ala) c.896A>C (p.Glu299Ala) c.1265A>C (p.Glu422Ala) c.1355A>C (p.Glu452Ala) n.1114A>C c.*559T>G (n.*559T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.102830877T= | CA1932867030 | CYP17A1,WBP1L | c.1352A= (p.Glu451=) c.1049A= (p.Glu350=) c.896A= (p.Glu299=) c.1265A= (p.Glu422=) c.1355A= (p.Glu452=) n.1114A= c.*559T= (n.*559T=) | |
| 10 | g.102830878C>A | CA377938163 | CYP17A1,WBP1L | c.1351G>T (p.Glu451Ter) c.1048G>T (p.Glu350Ter) c.895G>T (p.Glu299Ter) c.1264G>T (p.Glu422Ter) c.1354G>T (p.Glu452Ter) n.1113G>T c.*560C>A (n.*560C>A) | gnomAD v4 |
| 10 | g.102830878C= | CA1932867033 | CYP17A1,WBP1L | c.1351G= (p.Glu451=) c.1048G= (p.Glu350=) c.895G= (p.Glu299=) c.1264G= (p.Glu422=) c.1354G= (p.Glu452=) n.1113G= c.*560C= (n.*560C=) | |
| 10 | g.102830878C>G | CA377938164 | CYP17A1,WBP1L | c.1351G>C (p.Glu451Gln) c.1048G>C (p.Glu350Gln) c.895G>C (p.Glu299Gln) c.1264G>C (p.Glu422Gln) c.1354G>C (p.Glu452Gln) n.1113G>C c.*560C>G (n.*560C>G) | |
| 10 | g.102830878C>T | CA377938165 | CYP17A1,WBP1L | c.1351G>A (p.Glu451Lys) c.1048G>A (p.Glu350Lys) c.895G>A (p.Glu299Lys) c.1264G>A (p.Glu422Lys) c.1354G>A (p.Glu452Lys) n.1113G>A c.*560C>T (n.*560C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.102830879C>A | CA377938166 | CYP17A1,WBP1L | c.1350G>T (p.Gln450His) c.1047G>T (p.Gln349His) c.894G>T (p.Gln298His) c.1263G>T (p.Gln421His) c.1353G>T (p.Gln451His) n.1112G>T c.*561C>A (n.*561C>A) | |
| 10 | g.102830879C>G | CA377938167 | CYP17A1,WBP1L | c.1350G>C (p.Gln450His) c.1047G>C (p.Gln349His) c.894G>C (p.Gln298His) c.1263G>C (p.Gln421His) c.1353G>C (p.Gln451His) n.1112G>C c.*561C>G (n.*561C>G) | |
| 10 | g.102830879C>T | CA471287273 | CYP17A1,WBP1L | c.1350G>A (p.Gln450=) c.1047G>A (p.Gln349=) c.894G>A (p.Gln298=) c.1263G>A (p.Gln421=) c.1353G>A (p.Gln451=) n.1112G>A c.*561C>T (n.*561C>T) | |
| 10 | g.102830880T>A | CA377938170 | CYP17A1,WBP1L | c.1349A>T (p.Gln450Leu) c.1046A>T (p.Gln349Leu) c.893A>T (p.Gln298Leu) c.1262A>T (p.Gln421Leu) c.1352A>T (p.Gln451Leu) n.1111A>T c.*562T>A (n.*562T>A) | |
| 10 | g.102830880T>C | CA377938169 | CYP17A1,WBP1L | c.1349A>G (p.Gln450Arg) c.1046A>G (p.Gln349Arg) c.893A>G (p.Gln298Arg) c.1262A>G (p.Gln421Arg) c.1352A>G (p.Gln451Arg) n.1111A>G c.*562T>C (n.*562T>C) | |
| 10 | g.102830880T>G | CA377938168 | CYP17A1,WBP1L | c.1349A>C (p.Gln450Pro) c.1046A>C (p.Gln349Pro) c.893A>C (p.Gln298Pro) c.1262A>C (p.Gln421Pro) c.1352A>C (p.Gln451Pro) n.1111A>C c.*562T>G (n.*562T>G) | |
| 10 | g.102830881G>A | CA377938171 | CYP17A1,WBP1L | c.1348C>T (p.Gln450Ter) c.1045C>T (p.Gln349Ter) c.892C>T (p.Gln298Ter) c.1261C>T (p.Gln421Ter) c.1351C>T (p.Gln451Ter) n.1110C>T c.*563G>A (n.*563G>A) | |
| 10 | g.102830881G>C | CA377938172 | CYP17A1,WBP1L | c.1348C>G (p.Gln450Glu) c.1045C>G (p.Gln349Glu) c.892C>G (p.Gln298Glu) c.1261C>G (p.Gln421Glu) c.1351C>G (p.Gln451Glu) n.1110C>G c.*563G>C (n.*563G>C) | |
| 10 | g.102830881G>T | CA377938173 | CYP17A1,WBP1L | c.1348C>A (p.Gln450Lys) c.1045C>A (p.Gln349Lys) c.892C>A (p.Gln298Lys) c.1261C>A (p.Gln421Lys) c.1351C>A (p.Gln451Lys) n.1110C>A c.*563G>T (n.*563G>T) | gnomAD v4 |
| 10 | g.102830882G>A | CA471287277 | CYP17A1,WBP1L | c.1347C>T (p.Arg449=) c.1044C>T (p.Arg348=) c.891C>T (p.Arg297=) c.1260C>T (p.Arg420=) c.1350C>T (p.Arg450=) n.1109C>T c.*564G>A (n.*564G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.102830882G>C | CA471287278 | CYP17A1,WBP1L | c.1347C>G (p.Arg449=) c.1044C>G (p.Arg348=) c.891C>G (p.Arg297=) c.1260C>G (p.Arg420=) c.1350C>G (p.Arg450=) n.1109C>G c.*564G>C (n.*564G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102830882G= | CA1932867044 | CYP17A1,WBP1L | c.1347C= (p.Arg449=) c.1044C= (p.Arg348=) c.891C= (p.Arg297=) c.1260C= (p.Arg420=) c.1350C= (p.Arg450=) n.1109C= c.*564G= (n.*564G=) | |
| 10 | g.102830882G>T | CA471287279 | CYP17A1,WBP1L | c.1347C>A (p.Arg449=) c.1044C>A (p.Arg348=) c.891C>A (p.Arg297=) c.1260C>A (p.Arg420=) c.1350C>A (p.Arg450=) n.1109C>A c.*564G>T (n.*564G>T) | gnomAD v4 |
| 10 | g.102830883del | CA2695201042 | CYP17A1,WBP1L | c.1346del (p.Arg449ProfsTer?) c.1043del (p.Arg348ProfsTer?) c.890del (p.Arg297ProfsTer?) c.1259del (p.Arg420ProfsTer?) c.1349del (p.Arg450ProfsTer?) n.1108del c.*565del (n.*565del) | ClinVar |
| 10 | g.102830883C>A | CA377938174 | CYP17A1,WBP1L | c.1346G>T (p.Arg449Leu) c.1043G>T (p.Arg348Leu) c.890G>T (p.Arg297Leu) c.1259G>T (p.Arg420Leu) c.1349G>T (p.Arg450Leu) n.1108G>T c.*565C>A (n.*565C>A) | ClinVar gnomAD v4 |
| 10 | g.102830883C= | CA1932867054 | CYP17A1,WBP1L | c.1346G= (p.Arg449=) c.1043G= (p.Arg348=) c.890G= (p.Arg297=) c.1259G= (p.Arg420=) c.1349G= (p.Arg450=) n.1108G= c.*565C= (n.*565C=) | |
| 10 | g.102830883C>G | CA377938175 | CYP17A1,WBP1L | c.1346G>C (p.Arg449Pro) c.1043G>C (p.Arg348Pro) c.890G>C (p.Arg297Pro) c.1259G>C (p.Arg420Pro) c.1349G>C (p.Arg450Pro) n.1108G>C c.*565C>G (n.*565C>G) | |
| 10 | g.102830883C>T | CA5669338 | CYP17A1,WBP1L | c.1346G>A (p.Arg449His) c.1043G>A (p.Arg348His) c.890G>A (p.Arg297His) c.1259G>A (p.Arg420His) c.1349G>A (p.Arg450His) n.1108G>A c.*565C>T (n.*565C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.102830884G>A | CA5669339 | CYP17A1,WBP1L | c.1345C>T (p.Arg449Cys) c.1042C>T (p.Arg348Cys) c.889C>T (p.Arg297Cys) c.1258C>T (p.Arg420Cys) c.1348C>T (p.Arg450Cys) n.1107C>T c.*566G>A (n.*566G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.102830884G>C | CA377938176 | CYP17A1,WBP1L | c.1345C>G (p.Arg449Gly) c.1042C>G (p.Arg348Gly) c.889C>G (p.Arg297Gly) c.1258C>G (p.Arg420Gly) c.1348C>G (p.Arg450Gly) n.1107C>G c.*566G>C (n.*566G>C) | gnomAD v4 |
| 10 | g.102830884G= | CA1932867072 | CYP17A1,WBP1L | c.1345C= (p.Arg449=) c.1042C= (p.Arg348=) c.889C= (p.Arg297=) c.1258C= (p.Arg420=) c.1348C= (p.Arg450=) n.1107C= c.*566G= (n.*566G=) | |
| 10 | g.102830884G>T | CA377938177 | CYP17A1,WBP1L | c.1345C>A (p.Arg449Ser) c.1042C>A (p.Arg348Ser) c.889C>A (p.Arg297Ser) c.1258C>A (p.Arg420Ser) c.1348C>A (p.Arg450Ser) n.1107C>A c.*566G>T (n.*566G>T) | gnomAD v4 |
| 10 | g.102830886del | CA2574654672 | CYP17A1,WBP1L | c.1345del (p.Arg449AlafsTer?) c.1042del (p.Arg348AlafsTer?) c.889del (p.Arg297AlafsTer?) c.1258del (p.Arg420AlafsTer?) c.1348del (p.Arg450AlafsTer?) n.1107del c.*568del (n.*568del) | |
| 10 | g.102830885G>A | CA471287280 | CYP17A1,WBP1L | c.1344C>T (p.Ala448=) c.1041C>T (p.Ala347=) c.888C>T (p.Ala296=) c.1257C>T (p.Ala419=) c.1347C>T (p.Ala449=) n.1106C>T c.*567G>A (n.*567G>A) | gnomAD v4 |
| 10 | g.102830885G>C | CA471287282 | CYP17A1,WBP1L | c.1344C>G (p.Ala448=) c.1041C>G (p.Ala347=) c.888C>G (p.Ala296=) c.1257C>G (p.Ala419=) c.1347C>G (p.Ala449=) n.1106C>G c.*567G>C (n.*567G>C) | gnomAD v4 |
| 10 | g.102830885G>T | CA471287281 | CYP17A1,WBP1L | c.1344C>A (p.Ala448=) c.1041C>A (p.Ala347=) c.888C>A (p.Ala296=) c.1257C>A (p.Ala419=) c.1347C>A (p.Ala449=) n.1106C>A c.*567G>T (n.*567G>T) | gnomAD v4 |
| 10 | g.102830886G>A | CA377938178 | CYP17A1,WBP1L | c.1343C>T (p.Ala448Val) c.1040C>T (p.Ala347Val) c.887C>T (p.Ala296Val) c.1256C>T (p.Ala419Val) c.1346C>T (p.Ala449Val) n.1105C>T c.*568G>A (n.*568G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102830886G>C | CA377938179 | CYP17A1,WBP1L | c.1343C>G (p.Ala448Gly) c.1040C>G (p.Ala347Gly) c.887C>G (p.Ala296Gly) c.1256C>G (p.Ala419Gly) c.1346C>G (p.Ala449Gly) n.1105C>G c.*568G>C (n.*568G>C) | dbSNP |
| 10 | g.102830886G= | CA1932867077 | CYP17A1,WBP1L | c.1343C= (p.Ala448=) c.1040C= (p.Ala347=) c.887C= (p.Ala296=) c.1256C= (p.Ala419=) c.1346C= (p.Ala449=) n.1105C= c.*568G= (n.*568G=) | |
| 10 | g.102830886G>T | CA212290840 | CYP17A1,WBP1L | c.1343C>A (p.Ala448Asp) c.1040C>A (p.Ala347Asp) c.887C>A (p.Ala296Asp) c.1256C>A (p.Ala419Asp) c.1346C>A (p.Ala449Asp) n.1105C>A c.*568G>T (n.*568G>T) | dbSNP gnomAD v4 |
| 10 | g.102830887C>A | CA377938180 | CYP17A1,WBP1L | c.1342G>T (p.Ala448Ser) c.1039G>T (p.Ala347Ser) c.886G>T (p.Ala296Ser) c.1255G>T (p.Ala419Ser) c.1345G>T (p.Ala449Ser) n.1104G>T c.*569C>A (n.*569C>A) | gnomAD v4 |
| 10 | g.102830887C>G | CA377938181 | CYP17A1,WBP1L | c.1342G>C (p.Ala448Pro) c.1039G>C (p.Ala347Pro) c.886G>C (p.Ala296Pro) c.1255G>C (p.Ala419Pro) c.1345G>C (p.Ala449Pro) n.1104G>C c.*569C>G (n.*569C>G) | |
| 10 | g.102830887C>T | CA377938182 | CYP17A1,WBP1L | c.1342G>A (p.Ala448Thr) c.1039G>A (p.Ala347Thr) c.886G>A (p.Ala296Thr) c.1255G>A (p.Ala419Thr) c.1345G>A (p.Ala449Thr) n.1104G>A c.*569C>T (n.*569C>T) | gnomAD v4 |
| 10 | g.102830888C>A | CA471287288 | CYP17A1,WBP1L | c.1341G>T (p.Leu447=) c.1038G>T (p.Leu346=) c.885G>T (p.Leu295=) c.1254G>T (p.Leu418=) c.1344G>T (p.Leu448=) n.1103G>T c.*570C>A (n.*570C>A) | gnomAD v4 |
| 10 | g.102830888C= | CA1932867082 | CYP17A1,WBP1L | c.1341G= (p.Leu447=) c.1038G= (p.Leu346=) c.885G= (p.Leu295=) c.1254G= (p.Leu418=) c.1344G= (p.Leu448=) n.1103G= c.*570C= (n.*570C=) | |
| 10 | g.102830888C>G | CA471287290 | CYP17A1,WBP1L | c.1341G>C (p.Leu447=) c.1038G>C (p.Leu346=) c.885G>C (p.Leu295=) c.1254G>C (p.Leu418=) c.1344G>C (p.Leu448=) n.1103G>C c.*570C>G (n.*570C>G) | |
| 10 | g.102830888C>T | CA471287291 | CYP17A1,WBP1L | c.1341G>A (p.Leu447=) c.1038G>A (p.Leu346=) c.885G>A (p.Leu295=) c.1254G>A (p.Leu418=) c.1344G>A (p.Leu448=) n.1103G>A c.*570C>T (n.*570C>T) | dbSNP gnomAD v2 |
| 10 | g.102830889A>C | CA377938183 | CYP17A1,WBP1L | c.1340T>G (p.Leu447Arg) c.1037T>G (p.Leu346Arg) c.884T>G (p.Leu295Arg) c.1253T>G (p.Leu418Arg) c.1343T>G (p.Leu448Arg) n.1102T>G c.*571A>C (n.*571A>C) | |
| 10 | g.102830889A>G | CA377938184 | CYP17A1,WBP1L | c.1340T>C (p.Leu447Pro) c.1037T>C (p.Leu346Pro) c.884T>C (p.Leu295Pro) c.1253T>C (p.Leu418Pro) c.1343T>C (p.Leu448Pro) n.1102T>C c.*571A>G (n.*571A>G) | gnomAD v4 |
| 10 | g.102830889A>T | CA377938185 | CYP17A1,WBP1L | c.1340T>A (p.Leu447Gln) c.1037T>A (p.Leu346Gln) c.884T>A (p.Leu295Gln) c.1253T>A (p.Leu418Gln) c.1343T>A (p.Leu448Gln) n.1102T>A c.*571A>T (n.*571A>T) | |
| 10 | g.102830890G>A | CA471287293 | CYP17A1,WBP1L | c.1339C>T (p.Leu447=) c.1036C>T (p.Leu346=) c.883C>T (p.Leu295=) c.1252C>T (p.Leu418=) c.1342C>T (p.Leu448=) n.1101C>T c.*572G>A (n.*572G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102830890G>C | CA377938186 | CYP17A1,WBP1L | c.1339C>G (p.Leu447Val) c.1036C>G (p.Leu346Val) c.883C>G (p.Leu295Val) c.1252C>G (p.Leu418Val) c.1342C>G (p.Leu448Val) n.1101C>G c.*572G>C (n.*572G>C) | gnomAD v4 |
| 10 | g.102830890G= | CA1932867107 | CYP17A1,WBP1L | c.1339C= (p.Leu447=) c.1036C= (p.Leu346=) c.883C= (p.Leu295=) c.1252C= (p.Leu418=) c.1342C= (p.Leu448=) n.1101C= c.*572G= (n.*572G=) | |
| 10 | g.102830890G>T | CA377938187 | CYP17A1,WBP1L | c.1339C>A (p.Leu447Met) c.1036C>A (p.Leu346Met) c.883C>A (p.Leu295Met) c.1252C>A (p.Leu418Met) c.1342C>A (p.Leu448Met) n.1101C>A c.*572G>T (n.*572G>T) | gnomAD v4 |
| 10 | g.102830891G>A | CA471287296 | CYP17A1,WBP1L | c.1338C>T (p.Ile446=) c.1035C>T (p.Ile345=) c.882C>T (p.Ile294=) c.1251C>T (p.Ile417=) c.1341C>T (p.Ile447=) n.1100C>T c.*573G>A (n.*573G>A) | |
| 10 | g.102830891G>C | CA377938188 | CYP17A1,WBP1L | c.1338C>G (p.Ile446Met) c.1035C>G (p.Ile345Met) c.882C>G (p.Ile294Met) c.1251C>G (p.Ile417Met) c.1341C>G (p.Ile447Met) n.1100C>G c.*573G>C (n.*573G>C) | |
| 10 | g.102830891G>T | CA471287298 | CYP17A1,WBP1L | c.1338C>A (p.Ile446=) c.1035C>A (p.Ile345=) c.882C>A (p.Ile294=) c.1251C>A (p.Ile417=) c.1341C>A (p.Ile447=) n.1100C>A c.*573G>T (n.*573G>T) | gnomAD v4 |
| 10 | g.102830892A>C | CA377938189 | CYP17A1,WBP1L | c.1337T>G (p.Ile446Ser) c.1034T>G (p.Ile345Ser) c.881T>G (p.Ile294Ser) c.1250T>G (p.Ile417Ser) c.1340T>G (p.Ile447Ser) n.1099T>G c.*574A>C (n.*574A>C) | |
| 10 | g.102830892A>G | CA377938191 | CYP17A1,WBP1L | c.1337T>C (p.Ile446Thr) c.1034T>C (p.Ile345Thr) c.881T>C (p.Ile294Thr) c.1250T>C (p.Ile417Thr) c.1340T>C (p.Ile447Thr) n.1099T>C c.*574A>G (n.*574A>G) | |
| 10 | g.102830892A>T | CA377938190 | CYP17A1,WBP1L | c.1337T>A (p.Ile446Asn) c.1034T>A (p.Ile345Asn) c.881T>A (p.Ile294Asn) c.1250T>A (p.Ile417Asn) c.1340T>A (p.Ile447Asn) n.1099T>A c.*574A>T (n.*574A>T) | gnomAD v4 |
| 10 | g.102830893T>A | CA377938192 | CYP17A1,WBP1L | c.1336A>T (p.Ile446Phe) c.1033A>T (p.Ile345Phe) c.880A>T (p.Ile294Phe) c.1249A>T (p.Ile417Phe) c.1339A>T (p.Ile447Phe) n.1098A>T c.*575T>A (n.*575T>A) | gnomAD v4 |
| 10 | g.102830893T>C | CA377938194 | CYP17A1,WBP1L | c.1336A>G (p.Ile446Val) c.1033A>G (p.Ile345Val) c.880A>G (p.Ile294Val) c.1249A>G (p.Ile417Val) c.1339A>G (p.Ile447Val) n.1098A>G c.*575T>C (n.*575T>C) | |
| 10 | g.102830893T>G | CA377938193 | CYP17A1,WBP1L | c.1336A>C (p.Ile446Leu) c.1033A>C (p.Ile345Leu) c.880A>C (p.Ile294Leu) c.1249A>C (p.Ile417Leu) c.1339A>C (p.Ile447Leu) n.1098A>C c.*575T>G (n.*575T>G) | gnomAD v4 |
| 10 | g.102830894C>A | CA377938195 | CYP17A1,WBP1L | c.1335G>T (p.Glu445Asp) c.1032G>T (p.Glu344Asp) c.879G>T (p.Glu293Asp) c.1248G>T (p.Glu416Asp) c.1338G>T (p.Glu446Asp) n.1097G>T c.*576C>A (n.*576C>A) | |
| 10 | g.102830894C>G | CA377938196 | CYP17A1,WBP1L | c.1335G>C (p.Glu445Asp) c.1032G>C (p.Glu344Asp) c.879G>C (p.Glu293Asp) c.1248G>C (p.Glu416Asp) c.1338G>C (p.Glu446Asp) n.1097G>C c.*576C>G (n.*576C>G) | |
| 10 | g.102830894C>T | CA471287300 | CYP17A1,WBP1L | c.1335G>A (p.Glu445=) c.1032G>A (p.Glu344=) c.879G>A (p.Glu293=) c.1248G>A (p.Glu416=) c.1338G>A (p.Glu446=) n.1097G>A c.*576C>T (n.*576C>T) | gnomAD v4 |
| 10 | g.102830895T>A | CA377938197 | CYP17A1,WBP1L | c.1334A>T (p.Glu445Val) c.1031A>T (p.Glu344Val) c.878A>T (p.Glu293Val) c.1247A>T (p.Glu416Val) c.1337A>T (p.Glu446Val) n.1096A>T c.*577T>A (n.*577T>A) | |
| 10 | g.102830895T>C | CA377938198 | CYP17A1,WBP1L | c.1334A>G (p.Glu445Gly) c.1031A>G (p.Glu344Gly) c.878A>G (p.Glu293Gly) c.1247A>G (p.Glu416Gly) c.1337A>G (p.Glu446Gly) n.1096A>G c.*577T>C (n.*577T>C) | |
| 10 | g.102830895T>G | CA377938199 | CYP17A1,WBP1L | c.1334A>C (p.Glu445Ala) c.1031A>C (p.Glu344Ala) c.878A>C (p.Glu293Ala) c.1247A>C (p.Glu416Ala) c.1337A>C (p.Glu446Ala) n.1096A>C c.*577T>G (n.*577T>G) | |
| 10 | g.102830896C>A | CA377938200 | CYP17A1,WBP1L | c.1333G>T (p.Glu445Ter) c.1030G>T (p.Glu344Ter) c.877G>T (p.Glu293Ter) c.1246G>T (p.Glu416Ter) c.1336G>T (p.Glu446Ter) n.1095G>T c.*578C>A (n.*578C>A) | gnomAD v4 |
| 10 | g.102830896C= | CA1932867112 | CYP17A1,WBP1L | c.1333G= (p.Glu445=) c.1030G= (p.Glu344=) c.877G= (p.Glu293=) c.1246G= (p.Glu416=) c.1336G= (p.Glu446=) n.1095G= c.*578C= (n.*578C=) | |
| 10 | g.102830896C>G | CA377938201 | CYP17A1,WBP1L | c.1333G>C (p.Glu445Gln) c.1030G>C (p.Glu344Gln) c.877G>C (p.Glu293Gln) c.1246G>C (p.Glu416Gln) c.1336G>C (p.Glu446Gln) n.1095G>C c.*578C>G (n.*578C>G) | dbSNP |
| 10 | g.102830896C>T | CA377938202 | CYP17A1,WBP1L | c.1333G>A (p.Glu445Lys) c.1030G>A (p.Glu344Lys) c.877G>A (p.Glu293Lys) c.1246G>A (p.Glu416Lys) c.1336G>A (p.Glu446Lys) n.1095G>A c.*578C>T (n.*578C>T) | gnomAD v4 |
| 10 | g.102830897A>C | CA471287305 | CYP17A1,WBP1L | c.1332T>G (p.Gly444=) c.1029T>G (p.Gly343=) c.876T>G (p.Gly292=) c.1245T>G (p.Gly415=) c.1335T>G (p.Gly445=) n.1094T>G c.*579A>C (n.*579A>C) | |
| 10 | g.102830897A>G | CA471287307 | CYP17A1,WBP1L | c.1332T>C (p.Gly444=) c.1029T>C (p.Gly343=) c.876T>C (p.Gly292=) c.1245T>C (p.Gly415=) c.1335T>C (p.Gly445=) n.1094T>C c.*579A>G (n.*579A>G) | |
| 10 | g.102830897A>T | CA471287308 | CYP17A1,WBP1L | c.1332T>A (p.Gly444=) c.1029T>A (p.Gly343=) c.876T>A (p.Gly292=) c.1245T>A (p.Gly415=) c.1335T>A (p.Gly445=) n.1094T>A c.*579A>T (n.*579A>T) | |
| 10 | g.102830897_102830898delinsAC | CA1932867113 | CYP17A1,WBP1L | c.1331_1332delinsGT (p.Gly444=) c.1028_1029delinsGT (p.Gly343=) c.875_876delinsGT (p.Gly292=) c.1244_1245delinsGT (p.Gly415=) c.1334_1335delinsGT (p.Gly445=) n.1093_1094delinsGT c.*579_*580delinsAC (n.*579_*580delinsAC) | |
| 10 | g.102830898C>A | CA377938203 | CYP17A1,WBP1L | c.1331G>T (p.Gly444Val) c.1028G>T (p.Gly343Val) c.875G>T (p.Gly292Val) c.1244G>T (p.Gly415Val) c.1334G>T (p.Gly445Val) n.1093G>T c.*580C>A (n.*580C>A) | |
| 10 | g.102830898C= | CA1932867118 | CYP17A1,WBP1L | c.1331G= (p.Gly444=) c.1028G= (p.Gly343=) c.875G= (p.Gly292=) c.1244G= (p.Gly415=) c.1334G= (p.Gly445=) n.1093G= c.*580C= (n.*580C=) | |
| 10 | g.102830898C>G | CA377938204 | CYP17A1,WBP1L | c.1331G>C (p.Gly444Ala) c.1028G>C (p.Gly343Ala) c.875G>C (p.Gly292Ala) c.1244G>C (p.Gly415Ala) c.1334G>C (p.Gly445Ala) n.1093G>C c.*580C>G (n.*580C>G) | |
| 10 | g.102830898C>T | CA377938205 | CYP17A1,WBP1L | c.1331G>A (p.Gly444Asp) c.1028G>A (p.Gly343Asp) c.875G>A (p.Gly292Asp) c.1244G>A (p.Gly415Asp) c.1334G>A (p.Gly445Asp) n.1093G>A c.*580C>T (n.*580C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102830899del | CA595226116 | CYP17A1,WBP1L | c.1331del (p.Gly444ValfsTer?) c.1028del (p.Gly343ValfsTer?) c.875del (p.Gly292ValfsTer?) c.1244del (p.Gly415ValfsTer?) c.1334del (p.Gly445ValfsTer?) n.1093del c.*581del (n.*581del) | dbSNP gnomAD v2 |
| 10 | g.102830899C>A | CA377938208 | CYP17A1,WBP1L | c.1330G>T (p.Gly444Cys) c.1027G>T (p.Gly343Cys) c.874G>T (p.Gly292Cys) c.1243G>T (p.Gly415Cys) c.1333G>T (p.Gly445Cys) n.1092G>T c.*581C>A (n.*581C>A) | gnomAD v4 |
| 10 | g.102830899C>G | CA377938207 | CYP17A1,WBP1L | c.1330G>C (p.Gly444Arg) c.1027G>C (p.Gly343Arg) c.874G>C (p.Gly292Arg) c.1243G>C (p.Gly415Arg) c.1333G>C (p.Gly445Arg) n.1092G>C c.*581C>G (n.*581C>G) | |
| 10 | g.102830899C>T | CA377938206 | CYP17A1,WBP1L | c.1330G>A (p.Gly444Ser) c.1027G>A (p.Gly343Ser) c.874G>A (p.Gly292Ser) c.1243G>A (p.Gly415Ser) c.1333G>A (p.Gly445Ser) n.1092G>A c.*581C>T (n.*581C>T) | |
| 10 | g.102830900T>A | CA471287312 | CYP17A1,WBP1L | c.1329A>T (p.Ile443=) c.1026A>T (p.Ile342=) c.873A>T (p.Ile291=) c.1242A>T (p.Ile414=) c.1332A>T (p.Ile444=) n.1091A>T c.*582T>A (n.*582T>A) | |
| 10 | g.102830900T>C | CA377938209 | CYP17A1,WBP1L | c.1329A>G (p.Ile443Met) c.1026A>G (p.Ile342Met) c.873A>G (p.Ile291Met) c.1242A>G (p.Ile414Met) c.1332A>G (p.Ile444Met) n.1091A>G c.*582T>C (n.*582T>C) | |
| 10 | g.102830900T>G | CA471287315 | CYP17A1,WBP1L | c.1329A>C (p.Ile443=) c.1026A>C (p.Ile342=) c.873A>C (p.Ile291=) c.1242A>C (p.Ile414=) c.1332A>C (p.Ile444=) n.1091A>C c.*582T>G (n.*582T>G) | |
| 10 | g.102830901A= | CA1932867123 | CYP17A1,WBP1L | c.1328T= (p.Ile443=) c.1025T= (p.Ile342=) c.872T= (p.Ile291=) c.1241T= (p.Ile414=) c.1331T= (p.Ile444=) n.1090T= c.*583A= (n.*583A=) | |
| 10 | g.102830901A>C | CA377938210 | CYP17A1,WBP1L | c.1328T>G (p.Ile443Arg) c.1025T>G (p.Ile342Arg) c.872T>G (p.Ile291Arg) c.1241T>G (p.Ile414Arg) c.1331T>G (p.Ile444Arg) n.1090T>G c.*583A>C (n.*583A>C) | |
| 10 | g.102830901A>G | CA377938211 | CYP17A1,WBP1L | c.1328T>C (p.Ile443Thr) c.1025T>C (p.Ile342Thr) c.872T>C (p.Ile291Thr) c.1241T>C (p.Ile414Thr) c.1331T>C (p.Ile444Thr) n.1090T>C c.*583A>G (n.*583A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.102830901A>T | CA377938212 | CYP17A1,WBP1L | c.1328T>A (p.Ile443Lys) c.1025T>A (p.Ile342Lys) c.872T>A (p.Ile291Lys) c.1241T>A (p.Ile414Lys) c.1331T>A (p.Ile444Lys) n.1090T>A c.*583A>T (n.*583A>T) | |
| 10 | g.102830902T>A | CA377938213 | CYP17A1,WBP1L | c.1327A>T (p.Ile443Leu) c.1024A>T (p.Ile342Leu) c.871A>T (p.Ile291Leu) c.1240A>T (p.Ile414Leu) c.1330A>T (p.Ile444Leu) n.1089A>T c.*584T>A (n.*584T>A) | gnomAD v4 |
| 10 | g.102830902T>C | CA377938214 | CYP17A1,WBP1L | c.1327A>G (p.Ile443Val) c.1024A>G (p.Ile342Val) c.871A>G (p.Ile291Val) c.1240A>G (p.Ile414Val) c.1330A>G (p.Ile444Val) n.1089A>G c.*584T>C (n.*584T>C) | dbSNP |
| 10 | g.102830902T>G | CA377938215 | CYP17A1,WBP1L | c.1327A>C (p.Ile443Leu) c.1024A>C (p.Ile342Leu) c.871A>C (p.Ile291Leu) c.1240A>C (p.Ile414Leu) c.1330A>C (p.Ile444Leu) n.1089A>C c.*584T>G (n.*584T>G) | |
| 10 | g.102830902T= | CA1932867126 | CYP17A1,WBP1L | c.1327A= (p.Ile443=) c.1024A= (p.Ile342=) c.871A= (p.Ile291=) c.1240A= (p.Ile414=) c.1330A= (p.Ile444=) n.1089A= c.*584T= (n.*584T=) | |
| 10 | g.102830903A>C | CA377938216 | CYP17A1,WBP1L | c.1326T>G (p.Cys442Trp) c.1023T>G (p.Cys341Trp) c.870T>G (p.Cys290Trp) c.1239T>G (p.Cys413Trp) c.1329T>G (p.Cys443Trp) n.1088T>G c.*585A>C (n.*585A>C) | |
| 10 | g.102830903A>G | CA471287319 | CYP17A1,WBP1L | c.1326T>C (p.Cys442=) c.1023T>C (p.Cys341=) c.870T>C (p.Cys290=) c.1239T>C (p.Cys413=) c.1329T>C (p.Cys443=) n.1088T>C c.*585A>G (n.*585A>G) | gnomAD v4 |
| 10 | g.102830903A>T | CA377938217 | CYP17A1,WBP1L | c.1326T>A (p.Cys442Ter) c.1023T>A (p.Cys341Ter) c.870T>A (p.Cys290Ter) c.1239T>A (p.Cys413Ter) c.1329T>A (p.Cys443Ter) n.1088T>A c.*585A>T (n.*585A>T) | |
| 10 | g.102830904C>A | CA377938218 | CYP17A1,WBP1L | c.1325G>T (p.Cys442Phe) c.1022G>T (p.Cys341Phe) c.869G>T (p.Cys290Phe) c.1238G>T (p.Cys413Phe) c.1328G>T (p.Cys443Phe) n.1087G>T c.*586C>A (n.*586C>A) | gnomAD v4 |
| 10 | g.102830904C>G | CA377938219 | CYP17A1,WBP1L | c.1325G>C (p.Cys442Ser) c.1022G>C (p.Cys341Ser) c.869G>C (p.Cys290Ser) c.1238G>C (p.Cys413Ser) c.1328G>C (p.Cys443Ser) n.1087G>C c.*586C>G (n.*586C>G) | |
| 10 | g.102830904C>T | CA377938220 | CYP17A1,WBP1L | c.1325G>A (p.Cys442Tyr) c.1022G>A (p.Cys341Tyr) c.869G>A (p.Cys290Tyr) c.1238G>A (p.Cys413Tyr) c.1328G>A (p.Cys443Tyr) n.1087G>A c.*586C>T (n.*586C>T) | gnomAD v4 |
| 10 | g.102830905A= | CA1932867133 | CYP17A1,WBP1L | c.1324T= (p.Cys442=) c.1021T= (p.Cys341=) c.868T= (p.Cys290=) c.1237T= (p.Cys413=) c.1327T= (p.Cys443=) n.1086T= c.*587A= (n.*587A=) | |
| 10 | g.102830905A>C | CA377938223 | CYP17A1,WBP1L | c.1324T>G (p.Cys442Gly) c.1021T>G (p.Cys341Gly) c.868T>G (p.Cys290Gly) c.1237T>G (p.Cys413Gly) c.1327T>G (p.Cys443Gly) n.1086T>G c.*587A>C (n.*587A>C) | |
| 10 | g.102830905A>G | CA377938222 | CYP17A1,WBP1L | c.1324T>C (p.Cys442Arg) c.1021T>C (p.Cys341Arg) c.868T>C (p.Cys290Arg) c.1237T>C (p.Cys413Arg) c.1327T>C (p.Cys443Arg) n.1086T>C c.*587A>G (n.*587A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.102830905A>T | CA377938221 | CYP17A1,WBP1L | c.1324T>A (p.Cys442Ser) c.1021T>A (p.Cys341Ser) c.868T>A (p.Cys290Ser) c.1237T>A (p.Cys413Ser) c.1327T>A (p.Cys443Ser) n.1086T>A c.*587A>T (n.*587A>T) | |
| 10 | g.102830906G>A | CA471287321 | CYP17A1,WBP1L | c.1323C>T (p.Ser441=) c.1020C>T (p.Ser340=) c.867C>T (p.Ser289=) c.1236C>T (p.Ser412=) c.1326C>T (p.Ser442=) n.1085C>T c.*588G>A (n.*588G>A) | gnomAD v4 |
| 10 | g.102830906G>C | CA471287324 | CYP17A1,WBP1L | c.1323C>G (p.Ser441=) c.1020C>G (p.Ser340=) c.867C>G (p.Ser289=) c.1236C>G (p.Ser412=) c.1326C>G (p.Ser442=) n.1085C>G c.*588G>C (n.*588G>C) | |
| 10 | g.102830906G>T | CA471287323 | CYP17A1,WBP1L | c.1323C>A (p.Ser441=) c.1020C>A (p.Ser340=) c.867C>A (p.Ser289=) c.1236C>A (p.Ser412=) c.1326C>A (p.Ser442=) n.1085C>A c.*588G>T (n.*588G>T) | gnomAD v4 |
| 10 | g.102830907G>A | CA377938224 | CYP17A1,WBP1L | c.1322C>T (p.Ser441Phe) c.1019C>T (p.Ser340Phe) c.866C>T (p.Ser289Phe) c.1235C>T (p.Ser412Phe) c.1325C>T (p.Ser442Phe) n.1084C>T c.*589G>A (n.*589G>A) | dbSNP |
| 10 | g.102830907G>C | CA377938225 | CYP17A1,WBP1L | c.1322C>G (p.Ser441Cys) c.1019C>G (p.Ser340Cys) c.866C>G (p.Ser289Cys) c.1235C>G (p.Ser412Cys) c.1325C>G (p.Ser442Cys) n.1084C>G c.*589G>C (n.*589G>C) | |
| 10 | g.102830907G= | CA1932867138 | CYP17A1,WBP1L | c.1322C= (p.Ser441=) c.1019C= (p.Ser340=) c.866C= (p.Ser289=) c.1235C= (p.Ser412=) c.1325C= (p.Ser442=) n.1084C= c.*589G= (n.*589G=) | |
| 10 | g.102830907G>T | CA377938226 | CYP17A1,WBP1L | c.1322C>A (p.Ser441Tyr) c.1019C>A (p.Ser340Tyr) c.866C>A (p.Ser289Tyr) c.1235C>A (p.Ser412Tyr) c.1325C>A (p.Ser442Tyr) n.1084C>A c.*589G>T (n.*589G>T) | gnomAD v4 |
| 10 | g.102830908A>C | CA377938227 | CYP17A1,WBP1L | c.1321T>G (p.Ser441Ala) c.1018T>G (p.Ser340Ala) c.865T>G (p.Ser289Ala) c.1234T>G (p.Ser412Ala) c.1324T>G (p.Ser442Ala) n.1083T>G c.*590A>C (n.*590A>C) | |
| 10 | g.102830908A>G | CA377938228 | CYP17A1,WBP1L | c.1321T>C (p.Ser441Pro) c.1018T>C (p.Ser340Pro) c.865T>C (p.Ser289Pro) c.1234T>C (p.Ser412Pro) c.1324T>C (p.Ser442Pro) n.1083T>C c.*590A>G (n.*590A>G) | |
| 10 | g.102830908A>T | CA377938229 | CYP17A1,WBP1L | c.1321T>A (p.Ser441Thr) c.1018T>A (p.Ser340Thr) c.865T>A (p.Ser289Thr) c.1234T>A (p.Ser412Thr) c.1324T>A (p.Ser442Thr) n.1083T>A c.*590A>T (n.*590A>T) | |
| 10 | g.102830909G>A | CA471287331 | CYP17A1,WBP1L | c.1320C>T (p.Arg440=) c.1017C>T (p.Arg339=) c.864C>T (p.Arg288=) c.1233C>T (p.Arg411=) c.1323C>T (p.Arg441=) n.1082C>T c.*591G>A (n.*591G>A) | gnomAD v4 |
| 10 | g.102830909G>C | CA471287332 | CYP17A1,WBP1L | c.1320C>G (p.Arg440=) c.1017C>G (p.Arg339=) c.864C>G (p.Arg288=) c.1233C>G (p.Arg411=) c.1323C>G (p.Arg441=) n.1082C>G c.*591G>C (n.*591G>C) | |
| 10 | g.102830909G= | CA1932867142 | CYP17A1,WBP1L | c.1320C= (p.Arg440=) c.1017C= (p.Arg339=) c.864C= (p.Arg288=) c.1233C= (p.Arg411=) c.1323C= (p.Arg441=) n.1082C= c.*591G= (n.*591G=) | |
| 10 | g.102830909G>T | CA471287333 | CYP17A1,WBP1L | c.1320C>A (p.Arg440=) c.1017C>A (p.Arg339=) c.864C>A (p.Arg288=) c.1233C>A (p.Arg411=) c.1323C>A (p.Arg441=) n.1082C>A c.*591G>T (n.*591G>T) | dbSNP gnomAD v4 |
| 10 | g.102830910C>A | CA377938230 | CYP17A1,WBP1L | c.1319G>T (p.Arg440Leu) c.1016G>T (p.Arg339Leu) c.863G>T (p.Arg288Leu) c.1232G>T (p.Arg411Leu) c.1322G>T (p.Arg441Leu) n.1081G>T c.*592C>A (n.*592C>A) | gnomAD v4 |
| 10 | g.102830910C= | CA1932867146 | CYP17A1,WBP1L | c.1319G= (p.Arg440=) c.1016G= (p.Arg339=) c.863G= (p.Arg288=) c.1232G= (p.Arg411=) c.1322G= (p.Arg441=) n.1081G= c.*592C= (n.*592C=) | |
| 10 | g.102830910C>G | CA377938231 | CYP17A1,WBP1L | c.1319G>C (p.Arg440Pro) c.1016G>C (p.Arg339Pro) c.863G>C (p.Arg288Pro) c.1232G>C (p.Arg411Pro) c.1322G>C (p.Arg441Pro) n.1081G>C c.*592C>G (n.*592C>G) | gnomAD v4 |
| 10 | g.102830910C>T | CA5669340 | CYP17A1,WBP1L | c.1319G>A (p.Arg440His) c.1016G>A (p.Arg339His) c.863G>A (p.Arg288His) c.1232G>A (p.Arg411His) c.1322G>A (p.Arg441His) n.1081G>A c.*592C>T (n.*592C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.102830911G>A | CA377938232 | CYP17A1,WBP1L | c.1318C>T (p.Arg440Cys) c.1015C>T (p.Arg339Cys) c.862C>T (p.Arg288Cys) c.1231C>T (p.Arg411Cys) c.1321C>T (p.Arg441Cys) n.1080C>T c.*593G>A (n.*593G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102830911G>C | CA377938233 | CYP17A1,WBP1L | c.1318C>G (p.Arg440Gly) c.1015C>G (p.Arg339Gly) c.862C>G (p.Arg288Gly) c.1231C>G (p.Arg411Gly) c.1321C>G (p.Arg441Gly) n.1080C>G c.*593G>C (n.*593G>C) | |
| 10 | g.102830911G= | CA1932867156 | CYP17A1,WBP1L | c.1318C= (p.Arg440=) c.1015C= (p.Arg339=) c.862C= (p.Arg288=) c.1231C= (p.Arg411=) c.1321C= (p.Arg441=) n.1080C= c.*593G= (n.*593G=) | |
| 10 | g.102830911G>T | CA212290846 | CYP17A1,WBP1L | c.1318C>A (p.Arg440Ser) c.1015C>A (p.Arg339Ser) c.862C>A (p.Arg288Ser) c.1231C>A (p.Arg411Ser) c.1321C>A (p.Arg441Ser) n.1080C>A c.*593G>T (n.*593G>T) | dbSNP gnomAD v4 |
| 10 | g.102830912A>C | CA471287338 | CYP17A1,WBP1L | c.1317T>G (p.Pro439=) c.1014T>G (p.Pro338=) c.861T>G (p.Pro287=) c.1230T>G (p.Pro410=) c.1320T>G (p.Pro440=) n.1079T>G c.*594A>C (n.*594A>C) | |
| 10 | g.102830912A>G | CA471287339 | CYP17A1,WBP1L | c.1317T>C (p.Pro439=) c.1014T>C (p.Pro338=) c.861T>C (p.Pro287=) c.1230T>C (p.Pro410=) c.1320T>C (p.Pro440=) n.1079T>C c.*594A>G (n.*594A>G) | |
| 10 | g.102830912A>T | CA471287340 | CYP17A1,WBP1L | c.1317T>A (p.Pro439=) c.1014T>A (p.Pro338=) c.861T>A (p.Pro287=) c.1230T>A (p.Pro410=) c.1320T>A (p.Pro440=) n.1079T>A c.*594A>T (n.*594A>T) | |
| 10 | g.102830913G>A | CA377938236 | CYP17A1,WBP1L | c.1316C>T (p.Pro439Leu) c.1013C>T (p.Pro338Leu) c.860C>T (p.Pro287Leu) c.1229C>T (p.Pro410Leu) c.1319C>T (p.Pro440Leu) n.1078C>T c.*595G>A (n.*595G>A) | |
| 10 | g.102830913G>C | CA377938235 | CYP17A1,WBP1L | c.1316C>G (p.Pro439Arg) c.1013C>G (p.Pro338Arg) c.860C>G (p.Pro287Arg) c.1229C>G (p.Pro410Arg) c.1319C>G (p.Pro440Arg) n.1078C>G c.*595G>C (n.*595G>C) | |
| 10 | g.102830913G>T | CA377938234 | CYP17A1,WBP1L | c.1316C>A (p.Pro439His) c.1013C>A (p.Pro338His) c.860C>A (p.Pro287His) c.1229C>A (p.Pro410His) c.1319C>A (p.Pro440His) n.1078C>A c.*595G>T (n.*595G>T) | gnomAD v4 |
| 10 | g.102830914G>A | CA5669341 | CYP17A1,WBP1L | c.1315C>T (p.Pro439Ser) c.1012C>T (p.Pro338Ser) c.859C>T (p.Pro287Ser) c.1228C>T (p.Pro410Ser) c.1318C>T (p.Pro440Ser) n.1077C>T c.*596G>A (n.*596G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.102830914G>C | CA377938237 | CYP17A1,WBP1L | c.1315C>G (p.Pro439Ala) c.1012C>G (p.Pro338Ala) c.859C>G (p.Pro287Ala) c.1228C>G (p.Pro410Ala) c.1318C>G (p.Pro440Ala) n.1077C>G c.*596G>C (n.*596G>C) | |
| 10 | g.102830914G= | CA1932867161 | CYP17A1,WBP1L | c.1315C= (p.Pro439=) c.1012C= (p.Pro338=) c.859C= (p.Pro287=) c.1228C= (p.Pro410=) c.1318C= (p.Pro440=) n.1077C= c.*596G= (n.*596G=) | |
| 10 | g.102830914G>T | CA377938238 | CYP17A1,WBP1L | c.1315C>A (p.Pro439Thr) c.1012C>A (p.Pro338Thr) c.859C>A (p.Pro287Thr) c.1228C>A (p.Pro410Thr) c.1318C>A (p.Pro440Thr) n.1077C>A c.*596G>T (n.*596G>T) | gnomAD v4 |
| 10 | g.102830915T>A | CA471287346 | CYP17A1,WBP1L | c.1314A>T (p.Gly438=) c.1011A>T (p.Gly337=) c.858A>T (p.Gly286=) c.1227A>T (p.Gly409=) c.1317A>T (p.Gly439=) n.1076A>T c.*597T>A (n.*597T>A) | |
| 10 | g.102830915T>C | CA471287347 | CYP17A1,WBP1L | c.1314A>G (p.Gly438=) c.1011A>G (p.Gly337=) c.858A>G (p.Gly286=) c.1227A>G (p.Gly409=) c.1317A>G (p.Gly439=) n.1076A>G c.*597T>C (n.*597T>C) | gnomAD v4 |
| 10 | g.102830915T>G | CA471287344 | CYP17A1,WBP1L | c.1314A>C (p.Gly438=) c.1011A>C (p.Gly337=) c.858A>C (p.Gly286=) c.1227A>C (p.Gly409=) c.1317A>C (p.Gly439=) n.1076A>C c.*597T>G (n.*597T>G) | |
| 10 | g.102830916C>A | CA377938239 | CYP17A1,WBP1L | c.1313G>T (p.Gly438Val) c.1010G>T (p.Gly337Val) c.857G>T (p.Gly286Val) c.1226G>T (p.Gly409Val) c.1316G>T (p.Gly439Val) n.1075G>T c.*598C>A (n.*598C>A) | |
| 10 | g.102830916C>G | CA377938240 | CYP17A1,WBP1L | c.1313G>C (p.Gly438Ala) c.1010G>C (p.Gly337Ala) c.857G>C (p.Gly286Ala) c.1226G>C (p.Gly409Ala) c.1316G>C (p.Gly439Ala) n.1075G>C c.*598C>G (n.*598C>G) | |
| 10 | g.102830916C>T | CA377938241 | CYP17A1,WBP1L | c.1313G>A (p.Gly438Glu) c.1010G>A (p.Gly337Glu) c.857G>A (p.Gly286Glu) c.1226G>A (p.Gly409Glu) c.1316G>A (p.Gly439Glu) n.1075G>A c.*598C>T (n.*598C>T) | gnomAD v4 |
| 10 | g.102830917del | CA2580081224 | CYP17A1,WBP1L | c.1313del (p.Gly438AspfsTer6) c.1010del (p.Gly337AspfsTer6) c.857del (p.Gly286AspfsTer6) c.1226del (p.Gly409AspfsTer6) c.1316del (p.Gly439AspfsTer6) n.1075del c.*599del (n.*599del) | ClinVar dbSNP |
| 10 | g.102830917C>A | CA377938242 | CYP17A1,WBP1L | c.1312G>T (p.Gly438Ter) c.1009G>T (p.Gly337Ter) c.856G>T (p.Gly286Ter) c.1225G>T (p.Gly409Ter) c.1315G>T (p.Gly439Ter) n.1074G>T c.*599C>A (n.*599C>A) | gnomAD v4 |
| 10 | g.102830917C>G | CA377938243 | CYP17A1,WBP1L | c.1312G>C (p.Gly438Arg) c.1009G>C (p.Gly337Arg) c.856G>C (p.Gly286Arg) c.1225G>C (p.Gly409Arg) c.1315G>C (p.Gly439Arg) n.1074G>C c.*599C>G (n.*599C>G) | |
| 10 | g.102830917C>T | CA377938244 | CYP17A1,WBP1L | c.1312G>A (p.Gly438Arg) c.1009G>A (p.Gly337Arg) c.856G>A (p.Gly286Arg) c.1225G>A (p.Gly409Arg) c.1315G>A (p.Gly439Arg) n.1074G>A c.*599C>T (n.*599C>T) | gnomAD v4 |
| 10 | g.102830918T>A | CA471287352 | CYP17A1,WBP1L | c.1311A>T (p.Ala437=) c.1008A>T (p.Ala336=) c.855A>T (p.Ala285=) c.1224A>T (p.Ala408=) c.1314A>T (p.Ala438=) n.1073A>T c.*600T>A (n.*600T>A) | gnomAD v4 |
| 10 | g.102830918T>C | CA471287354 | CYP17A1,WBP1L | c.1311A>G (p.Ala437=) c.1008A>G (p.Ala336=) c.855A>G (p.Ala285=) c.1224A>G (p.Ala408=) c.1314A>G (p.Ala438=) n.1073A>G c.*600T>C (n.*600T>C) | gnomAD v4 |
| 10 | g.102830918T>G | CA471287355 | CYP17A1,WBP1L | c.1311A>C (p.Ala437=) c.1008A>C (p.Ala336=) c.855A>C (p.Ala285=) c.1224A>C (p.Ala408=) c.1314A>C (p.Ala438=) n.1073A>C c.*600T>G (n.*600T>G) | |
| 10 | g.102830919G>A | CA377938245 | CYP17A1,WBP1L | c.1310C>T (p.Ala437Val) c.1007C>T (p.Ala336Val) c.854C>T (p.Ala285Val) c.1223C>T (p.Ala408Val) c.1313C>T (p.Ala438Val) n.1072C>T c.*601G>A (n.*601G>A) | gnomAD v4 |
| 10 | g.102830919G>C | CA377938246 | CYP17A1,WBP1L | c.1310C>G (p.Ala437Gly) c.1007C>G (p.Ala336Gly) c.854C>G (p.Ala285Gly) c.1223C>G (p.Ala408Gly) c.1313C>G (p.Ala438Gly) n.1072C>G c.*601G>C (n.*601G>C) | |
| 10 | g.102830919G= | CA1932867165 | CYP17A1,WBP1L | c.1310C= (p.Ala437=) c.1007C= (p.Ala336=) c.854C= (p.Ala285=) c.1223C= (p.Ala408=) c.1313C= (p.Ala438=) n.1072C= c.*601G= (n.*601G=) | |
| 10 | g.102830919G>T | CA377938247 | CYP17A1,WBP1L | c.1310C>A (p.Ala437Glu) c.1007C>A (p.Ala336Glu) c.854C>A (p.Ala285Glu) c.1223C>A (p.Ala408Glu) c.1313C>A (p.Ala438Glu) n.1072C>A c.*601G>T (n.*601G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102830920C>A | CA377938248 | CYP17A1,WBP1L | c.1309G>T (p.Ala437Ser) c.1006G>T (p.Ala336Ser) c.853G>T (p.Ala285Ser) c.1222G>T (p.Ala408Ser) c.1312G>T (p.Ala438Ser) n.1071G>T c.*602C>A (n.*602C>A) | gnomAD v4 |
| 10 | g.102830920C= | CA1932867172 | CYP17A1,WBP1L | c.1309G= (p.Ala437=) c.1006G= (p.Ala336=) c.853G= (p.Ala285=) c.1222G= (p.Ala408=) c.1312G= (p.Ala438=) n.1071G= c.*602C= (n.*602C=) | |
| 10 | g.102830920C>G | CA377938250 | CYP17A1,WBP1L | c.1309G>C (p.Ala437Pro) c.1006G>C (p.Ala336Pro) c.853G>C (p.Ala285Pro) c.1222G>C (p.Ala408Pro) c.1312G>C (p.Ala438Pro) n.1071G>C c.*602C>G (n.*602C>G) | |
| 10 | g.102830920C>T | CA377938249 | CYP17A1,WBP1L | c.1309G>A (p.Ala437Thr) c.1006G>A (p.Ala336Thr) c.853G>A (p.Ala285Thr) c.1222G>A (p.Ala408Thr) c.1312G>A (p.Ala438Thr) n.1071G>A c.*602C>T (n.*602C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102830921T>A | CA471287360 | CYP17A1,WBP1L | c.1308A>T (p.Gly436=) c.1005A>T (p.Gly335=) c.852A>T (p.Gly284=) c.1221A>T (p.Gly407=) c.1311A>T (p.Gly437=) n.1070A>T c.*603T>A (n.*603T>A) | |
| 10 | g.102830921T>C | CA471287361 | CYP17A1,WBP1L | c.1308A>G (p.Gly436=) c.1005A>G (p.Gly335=) c.852A>G (p.Gly284=) c.1221A>G (p.Gly407=) c.1311A>G (p.Gly437=) n.1070A>G c.*603T>C (n.*603T>C) | gnomAD v4 |
| 10 | g.102830921T>G | CA471287362 | CYP17A1,WBP1L | c.1308A>C (p.Gly436=) c.1005A>C (p.Gly335=) c.852A>C (p.Gly284=) c.1221A>C (p.Gly407=) c.1311A>C (p.Gly437=) n.1070A>C c.*603T>G (n.*603T>G) | |
| 10 | g.102830922C>A | CA377938251 | CYP17A1,WBP1L | c.1307G>T (p.Gly436Val) c.1004G>T (p.Gly335Val) c.851G>T (p.Gly284Val) c.1220G>T (p.Gly407Val) c.1310G>T (p.Gly437Val) n.1069G>T c.*604C>A (n.*604C>A) | gnomAD v4 |
| 10 | g.102830922C= | CA1932867178 | CYP17A1,WBP1L | c.1307G= (p.Gly436=) c.1004G= (p.Gly335=) c.851G= (p.Gly284=) c.1220G= (p.Gly407=) c.1310G= (p.Gly437=) n.1069G= c.*604C= (n.*604C=) | |
| 10 | g.102830922C>G | CA377938253 | CYP17A1,WBP1L | c.1307G>C (p.Gly436Ala) c.1004G>C (p.Gly335Ala) c.851G>C (p.Gly284Ala) c.1220G>C (p.Gly407Ala) c.1310G>C (p.Gly437Ala) n.1069G>C c.*604C>G (n.*604C>G) | dbSNP gnomAD v2 |
| 10 | g.102830922C>T | CA377938252 | CYP17A1,WBP1L | c.1307G>A (p.Gly436Glu) c.1004G>A (p.Gly335Glu) c.851G>A (p.Gly284Glu) c.1220G>A (p.Gly407Glu) c.1310G>A (p.Gly437Glu) n.1069G>A c.*604C>T (n.*604C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102830923C>A | CA377938254 | CYP17A1,WBP1L | c.1306G>T (p.Gly436Ter) c.1003G>T (p.Gly335Ter) c.850G>T (p.Gly284Ter) c.1219G>T (p.Gly407Ter) c.1309G>T (p.Gly437Ter) n.1068G>T c.*605C>A (n.*605C>A) | |
| 10 | g.102830923C= | CA1932867179 | CYP17A1,WBP1L | c.1306G= (p.Gly436=) c.1003G= (p.Gly335=) c.850G= (p.Gly284=) c.1219G= (p.Gly407=) c.1309G= (p.Gly437=) n.1068G= c.*605C= (n.*605C=) | |
| 10 | g.102830923C>G | CA377938255 | CYP17A1,WBP1L | c.1306G>C (p.Gly436Arg) c.1003G>C (p.Gly335Arg) c.850G>C (p.Gly284Arg) c.1219G>C (p.Gly407Arg) c.1309G>C (p.Gly437Arg) n.1068G>C c.*605C>G (n.*605C>G) | |
| 10 | g.102830923C>T | CA5669342 | CYP17A1,WBP1L | c.1306G>A (p.Gly436Arg) c.1003G>A (p.Gly335Arg) c.850G>A (p.Gly284Arg) c.1219G>A (p.Gly407Arg) c.1309G>A (p.Gly437Arg) n.1068G>A c.*605C>T (n.*605C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.102830924G>A | CA5669343 | CYP17A1,WBP1L | c.1305C>T (p.Phe435=) c.1002C>T (p.Phe334=) c.849C>T (p.Phe283=) c.1218C>T (p.Phe406=) c.1308C>T (p.Phe436=) n.1067C>T c.*606G>A (n.*606G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.102830924G>C | CA377938257 | CYP17A1,WBP1L | c.1305C>G (p.Phe435Leu) c.1002C>G (p.Phe334Leu) c.849C>G (p.Phe283Leu) c.1218C>G (p.Phe406Leu) c.1308C>G (p.Phe436Leu) n.1067C>G c.*606G>C (n.*606G>C) | |
| 10 | g.102830924G= | CA1932867184 | CYP17A1,WBP1L | c.1305C= (p.Phe435=) c.1002C= (p.Phe334=) c.849C= (p.Phe283=) c.1218C= (p.Phe406=) c.1308C= (p.Phe436=) n.1067C= c.*606G= (n.*606G=) | |
| 10 | g.102830924G>T | CA377938256 | CYP17A1,WBP1L | c.1305C>A (p.Phe435Leu) c.1002C>A (p.Phe334Leu) c.849C>A (p.Phe283Leu) c.1218C>A (p.Phe406Leu) c.1308C>A (p.Phe436Leu) n.1067C>A c.*606G>T (n.*606G>T) | gnomAD v4 |
| 10 | g.102830925A>C | CA377938258 | CYP17A1,WBP1L | c.1304T>G (p.Phe435Cys) c.1001T>G (p.Phe334Cys) c.848T>G (p.Phe283Cys) c.1217T>G (p.Phe406Cys) c.1307T>G (p.Phe436Cys) n.1066T>G c.*607A>C (n.*607A>C) | |
| 10 | g.102830925A>G | CA377938260 | CYP17A1,WBP1L | c.1304T>C (p.Phe435Ser) c.1001T>C (p.Phe334Ser) c.848T>C (p.Phe283Ser) c.1217T>C (p.Phe406Ser) c.1307T>C (p.Phe436Ser) n.1066T>C c.*607A>G (n.*607A>G) | ClinVar |
| 10 | g.102830925A>T | CA377938259 | CYP17A1,WBP1L | c.1304T>A (p.Phe435Tyr) c.1001T>A (p.Phe334Tyr) c.848T>A (p.Phe283Tyr) c.1217T>A (p.Phe406Tyr) c.1307T>A (p.Phe436Tyr) n.1066T>A c.*607A>T (n.*607A>T) | |
| 10 | g.102830926A>C | CA377938261 | CYP17A1,WBP1L | c.1303T>G (p.Phe435Val) c.1000T>G (p.Phe334Val) c.847T>G (p.Phe283Val) c.1216T>G (p.Phe406Val) c.1306T>G (p.Phe436Val) n.1065T>G c.*608A>C (n.*608A>C) | gnomAD v4 |
| 10 | g.102830926A>G | CA377938263 | CYP17A1,WBP1L | c.1303T>C (p.Phe435Leu) c.1000T>C (p.Phe334Leu) c.847T>C (p.Phe283Leu) c.1216T>C (p.Phe406Leu) c.1306T>C (p.Phe436Leu) n.1065T>C c.*608A>G (n.*608A>G) | gnomAD v4 |
| 10 | g.102830926A>T | CA377938262 | CYP17A1,WBP1L | c.1303T>A (p.Phe435Ile) c.1000T>A (p.Phe334Ile) c.847T>A (p.Phe283Ile) c.1216T>A (p.Phe406Ile) c.1306T>A (p.Phe436Ile) n.1065T>A c.*608A>T (n.*608A>T) | gnomAD v4 |
| 10 | g.102830927G>A | CA471287366 | CYP17A1,WBP1L | c.1302C>T (p.Pro434=) c.999C>T (p.Pro333=) c.846C>T (p.Pro282=) c.1215C>T (p.Pro405=) c.1305C>T (p.Pro435=) n.1064C>T c.*609G>A (n.*609G>A) | |
| 10 | g.102830927G>C | CA471287368 | CYP17A1,WBP1L | c.1302C>G (p.Pro434=) c.999C>G (p.Pro333=) c.846C>G (p.Pro282=) c.1215C>G (p.Pro405=) c.1305C>G (p.Pro435=) n.1064C>G c.*609G>C (n.*609G>C) | |
| 10 | g.102830927G>T | CA471287370 | CYP17A1,WBP1L | c.1302C>A (p.Pro434=) c.999C>A (p.Pro333=) c.846C>A (p.Pro282=) c.1215C>A (p.Pro405=) c.1305C>A (p.Pro435=) n.1064C>A c.*609G>T (n.*609G>T) | gnomAD v4 |
| 10 | g.102830928G>A | CA377938264 | CYP17A1,WBP1L | c.1301C>T (p.Pro434Leu) c.998C>T (p.Pro333Leu) c.845C>T (p.Pro282Leu) c.1214C>T (p.Pro405Leu) c.1304C>T (p.Pro435Leu) n.1063C>T c.*610G>A (n.*610G>A) | ClinVar |
| 10 | g.102830928G>C | CA377938266 | CYP17A1,WBP1L | c.1301C>G (p.Pro434Arg) c.998C>G (p.Pro333Arg) c.845C>G (p.Pro282Arg) c.1214C>G (p.Pro405Arg) c.1304C>G (p.Pro435Arg) n.1063C>G c.*610G>C (n.*610G>C) | |
| 10 | g.102830928G>T | CA377938265 | CYP17A1,WBP1L | c.1301C>A (p.Pro434His) c.998C>A (p.Pro333His) c.845C>A (p.Pro282His) c.1214C>A (p.Pro405His) c.1304C>A (p.Pro435His) n.1063C>A c.*610G>T (n.*610G>T) | gnomAD v4 |
| 10 | g.102830929G>A | CA377938267 | CYP17A1,WBP1L | c.1300C>T (p.Pro434Ser) c.997C>T (p.Pro333Ser) c.844C>T (p.Pro282Ser) c.1213C>T (p.Pro405Ser) c.1303C>T (p.Pro435Ser) n.1062C>T c.*611G>A (n.*611G>A) | gnomAD v4 |
| 10 | g.102830929G>C | CA377938268 | CYP17A1,WBP1L | c.1300C>G (p.Pro434Ala) c.997C>G (p.Pro333Ala) c.844C>G (p.Pro282Ala) c.1213C>G (p.Pro405Ala) c.1303C>G (p.Pro435Ala) n.1062C>G c.*611G>C (n.*611G>C) | |
| 10 | g.102830929G>T | CA377938269 | CYP17A1,WBP1L | c.1300C>A (p.Pro434Thr) c.997C>A (p.Pro333Thr) c.844C>A (p.Pro282Thr) c.1213C>A (p.Pro405Thr) c.1303C>A (p.Pro435Thr) n.1062C>A c.*611G>T (n.*611G>T) | |
| 10 | g.102830930C>A | CA377938270 | CYP17A1,WBP1L | c.1299G>T (p.Leu433Phe) c.996G>T (p.Leu332Phe) c.843G>T (p.Leu281Phe) c.1212G>T (p.Leu404Phe) c.1302G>T (p.Leu434Phe) n.1061G>T c.*612C>A (n.*612C>A) | gnomAD v4 |
| 10 | g.102830930C>G | CA377938271 | CYP17A1,WBP1L | c.1299G>C (p.Leu433Phe) c.996G>C (p.Leu332Phe) c.843G>C (p.Leu281Phe) c.1212G>C (p.Leu404Phe) c.1302G>C (p.Leu434Phe) n.1061G>C c.*612C>G (n.*612C>G) | |
| 10 | g.102830930C>T | CA471287376 | CYP17A1,WBP1L | c.1299G>A (p.Leu433=) c.996G>A (p.Leu332=) c.843G>A (p.Leu281=) c.1212G>A (p.Leu404=) c.1302G>A (p.Leu434=) n.1061G>A c.*612C>T (n.*612C>T) | |
| 10 | g.102830931A= | CA1932867189 | CYP17A1,WBP1L | c.1298T= (p.Leu433=) c.995T= (p.Leu332=) c.842T= (p.Leu281=) c.1211T= (p.Leu404=) c.1301T= (p.Leu434=) n.1060T= c.*613A= (n.*613A=) | |
| 10 | g.102830931A>C | CA377938272 | CYP17A1,WBP1L | c.1298T>G (p.Leu433Trp) c.995T>G (p.Leu332Trp) c.842T>G (p.Leu281Trp) c.1211T>G (p.Leu404Trp) c.1301T>G (p.Leu434Trp) n.1060T>G c.*613A>C (n.*613A>C) | |
| 10 | g.102830931A>G | CA377938273 | CYP17A1,WBP1L | c.1298T>C (p.Leu433Ser) c.995T>C (p.Leu332Ser) c.842T>C (p.Leu281Ser) c.1211T>C (p.Leu404Ser) c.1301T>C (p.Leu434Ser) n.1060T>C c.*613A>G (n.*613A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.102830931A>T | CA377938274 | CYP17A1,WBP1L | c.1298T>A (p.Leu433Ter) c.995T>A (p.Leu332Ter) c.842T>A (p.Leu281Ter) c.1211T>A (p.Leu404Ter) c.1301T>A (p.Leu434Ter) n.1060T>A c.*613A>T (n.*613A>T) | |
| 10 | g.102830933del | CA2574654673 | CYP17A1,WBP1L | c.1298del (p.Leu433CysfsTer11) c.995del (p.Leu332CysfsTer11) c.842del (p.Leu281CysfsTer11) c.1211del (p.Leu404CysfsTer11) c.1301del (p.Leu434CysfsTer11) n.1060del c.*615del (n.*615del) | gnomAD v4 |
| 10 | g.102830932A>C | CA377938275 | CYP17A1,WBP1L | c.1297T>G (p.Leu433Val) c.994T>G (p.Leu332Val) c.841T>G (p.Leu281Val) c.1210T>G (p.Leu404Val) c.1300T>G (p.Leu434Val) n.1059T>G c.*614A>C (n.*614A>C) | |
| 10 | g.102830932A>G | CA471287377 | CYP17A1,WBP1L | c.1297T>C (p.Leu433=) c.994T>C (p.Leu332=) c.841T>C (p.Leu281=) c.1210T>C (p.Leu404=) c.1300T>C (p.Leu434=) n.1059T>C c.*614A>G (n.*614A>G) | gnomAD v4 |
| 10 | g.102830932A>T | CA377938276 | CYP17A1,WBP1L | c.1297T>A (p.Leu433Met) c.994T>A (p.Leu332Met) c.841T>A (p.Leu281Met) c.1210T>A (p.Leu404Met) c.1300T>A (p.Leu434Met) n.1059T>A c.*614A>T (n.*614A>T) | |
| 10 | g.102830933A>C | CA377938277 | CYP17A1,WBP1L | c.1296T>G (p.Tyr432Ter) c.993T>G (p.Tyr331Ter) c.840T>G (p.Tyr280Ter) c.1209T>G (p.Tyr403Ter) c.1299T>G (p.Tyr433Ter) n.1058T>G c.*615A>C (n.*615A>C) | |
| 10 | g.102830933A>G | CA471287378 | CYP17A1,WBP1L | c.1296T>C (p.Tyr432=) c.993T>C (p.Tyr331=) c.840T>C (p.Tyr280=) c.1209T>C (p.Tyr403=) c.1299T>C (p.Tyr433=) n.1058T>C c.*615A>G (n.*615A>G) | gnomAD v4 |
| 10 | g.102830933A>T | CA377938278 | CYP17A1,WBP1L | c.1296T>A (p.Tyr432Ter) c.993T>A (p.Tyr331Ter) c.840T>A (p.Tyr280Ter) c.1209T>A (p.Tyr403Ter) c.1299T>A (p.Tyr433Ter) n.1058T>A c.*615A>T (n.*615A>T) | |
| 10 | g.102830934T>A | CA377938279 | CYP17A1,WBP1L | c.1295A>T (p.Tyr432Phe) c.992A>T (p.Tyr331Phe) c.839A>T (p.Tyr280Phe) c.1208A>T (p.Tyr403Phe) c.1298A>T (p.Tyr433Phe) n.1057A>T c.*616T>A (n.*616T>A) | |
| 10 | g.102830934T>C | CA377938281 | CYP17A1,WBP1L | c.1295A>G (p.Tyr432Cys) c.992A>G (p.Tyr331Cys) c.839A>G (p.Tyr280Cys) c.1208A>G (p.Tyr403Cys) c.1298A>G (p.Tyr433Cys) n.1057A>G c.*616T>C (n.*616T>C) | gnomAD v4 |
| 10 | g.102830934T>G | CA377938280 | CYP17A1,WBP1L | c.1295A>C (p.Tyr432Ser) c.992A>C (p.Tyr331Ser) c.839A>C (p.Tyr280Ser) c.1208A>C (p.Tyr403Ser) c.1298A>C (p.Tyr433Ser) n.1057A>C c.*616T>G (n.*616T>G) | |
| 10 | g.102830935A>C | CA377938282 | CYP17A1,WBP1L | c.1294T>G (p.Tyr432Asp) c.991T>G (p.Tyr331Asp) c.838T>G (p.Tyr280Asp) c.1207T>G (p.Tyr403Asp) c.1297T>G (p.Tyr433Asp) n.1056T>G c.*617A>C (n.*617A>C) | |
| 10 | g.102830935A>G | CA377938283 | CYP17A1,WBP1L | c.1294T>C (p.Tyr432His) c.991T>C (p.Tyr331His) c.838T>C (p.Tyr280His) c.1207T>C (p.Tyr403His) c.1297T>C (p.Tyr433His) n.1056T>C c.*617A>G (n.*617A>G) | gnomAD v4 |
| 10 | g.102830935A>T | CA377938284 | CYP17A1,WBP1L | c.1294T>A (p.Tyr432Asn) c.991T>A (p.Tyr331Asn) c.838T>A (p.Tyr280Asn) c.1207T>A (p.Tyr403Asn) c.1297T>A (p.Tyr433Asn) n.1056T>A c.*617A>T (n.*617A>T) | |
| 10 | g.102830936G>A | CA471287379 | CYP17A1,WBP1L | c.1293C>T (p.Ser431=) c.990C>T (p.Ser330=) c.837C>T (p.Ser279=) c.1206C>T (p.Ser402=) c.1296C>T (p.Ser432=) n.1055C>T c.*618G>A (n.*618G>A) | ClinVar |
| 10 | g.102830936G>C | CA377938285 | CYP17A1,WBP1L | c.1293C>G (p.Ser431Arg) c.990C>G (p.Ser330Arg) c.837C>G (p.Ser279Arg) c.1206C>G (p.Ser402Arg) c.1296C>G (p.Ser432Arg) n.1055C>G c.*618G>C (n.*618G>C) | |
| 10 | g.102830936G>T | CA377938286 | CYP17A1,WBP1L | c.1293C>A (p.Ser431Arg) c.990C>A (p.Ser330Arg) c.837C>A (p.Ser279Arg) c.1206C>A (p.Ser402Arg) c.1296C>A (p.Ser432Arg) n.1055C>A c.*618G>T (n.*618G>T) | gnomAD v4 |
| 10 | g.102830937C>A | CA377938287 | CYP17A1,WBP1L | c.1292G>T (p.Ser431Ile) c.989G>T (p.Ser330Ile) c.836G>T (p.Ser279Ile) c.1205G>T (p.Ser402Ile) c.1295G>T (p.Ser432Ile) n.1054G>T c.*619C>A (n.*619C>A) | gnomAD v4 COSMIC |
| 10 | g.102830937C>G | CA377938288 | CYP17A1,WBP1L | c.1292G>C (p.Ser431Thr) c.989G>C (p.Ser330Thr) c.836G>C (p.Ser279Thr) c.1205G>C (p.Ser402Thr) c.1295G>C (p.Ser432Thr) n.1054G>C c.*619C>G (n.*619C>G) | |
| 10 | g.102830937C>T | CA377938289 | CYP17A1,WBP1L | c.1292G>A (p.Ser431Asn) c.989G>A (p.Ser330Asn) c.836G>A (p.Ser279Asn) c.1205G>A (p.Ser402Asn) c.1295G>A (p.Ser432Asn) n.1054G>A c.*619C>T (n.*619C>T) | gnomAD v4 |
| 10 | g.102830938T>A | CA377938292 | CYP17A1,WBP1L | c.1291A>T (p.Ser431Cys) c.988A>T (p.Ser330Cys) c.835A>T (p.Ser279Cys) c.1204A>T (p.Ser402Cys) c.1294A>T (p.Ser432Cys) n.1053A>T c.*620T>A (n.*620T>A) | |
| 10 | g.102830938T>C | CA377938291 | CYP17A1,WBP1L | c.1291A>G (p.Ser431Gly) c.988A>G (p.Ser330Gly) c.835A>G (p.Ser279Gly) c.1204A>G (p.Ser402Gly) c.1294A>G (p.Ser432Gly) n.1053A>G c.*620T>C (n.*620T>C) | |
| 10 | g.102830938T>G | CA377938290 | CYP17A1,WBP1L | c.1291A>C (p.Ser431Arg) c.988A>C (p.Ser330Arg) c.835A>C (p.Ser279Arg) c.1204A>C (p.Ser402Arg) c.1294A>C (p.Ser432Arg) n.1053A>C c.*620T>G (n.*620T>G) | |
| 10 | g.102830939del | CA2574654674 | CYP17A1,WBP1L | c.1291del (p.Ser431AlafsTer13) c.988del (p.Ser330AlafsTer13) c.835del (p.Ser279AlafsTer13) c.1204del (p.Ser402AlafsTer13) c.1294del (p.Ser432AlafsTer13) n.1053del c.*621del (n.*621del) | gnomAD v4 |
| 10 | g.102830939T>A | CA471287382 | CYP17A1,WBP1L | c.1290A>T (p.Val430=) c.987A>T (p.Val329=) c.834A>T (p.Val278=) c.1203A>T (p.Val401=) c.1293A>T (p.Val431=) n.1052A>T c.*621T>A (n.*621T>A) | gnomAD v4 |
| 10 | g.102830939T>C | CA471287383 | CYP17A1,WBP1L | c.1290A>G (p.Val430=) c.987A>G (p.Val329=) c.834A>G (p.Val278=) c.1203A>G (p.Val401=) c.1293A>G (p.Val431=) n.1052A>G c.*621T>C (n.*621T>C) | |
| 10 | g.102830939T>G | CA471287384 | CYP17A1,WBP1L | c.1290A>C (p.Val430=) c.987A>C (p.Val329=) c.834A>C (p.Val278=) c.1203A>C (p.Val401=) c.1293A>C (p.Val431=) n.1052A>C c.*621T>G (n.*621T>G) | |
| 10 | g.102830940A>C | CA377938293 | CYP17A1,WBP1L | c.1289T>G (p.Val430Gly) c.986T>G (p.Val329Gly) c.833T>G (p.Val278Gly) c.1202T>G (p.Val401Gly) c.1292T>G (p.Val431Gly) n.1051T>G c.*622A>C (n.*622A>C) | |
| 10 | g.102830940A>G | CA377938294 | CYP17A1,WBP1L | c.1289T>C (p.Val430Ala) c.986T>C (p.Val329Ala) c.833T>C (p.Val278Ala) c.1202T>C (p.Val401Ala) c.1292T>C (p.Val431Ala) n.1051T>C c.*622A>G (n.*622A>G) | |
| 10 | g.102830940A>T | CA377938295 | CYP17A1,WBP1L | c.1289T>A (p.Val430Glu) c.986T>A (p.Val329Glu) c.833T>A (p.Val278Glu) c.1202T>A (p.Val401Glu) c.1292T>A (p.Val431Glu) n.1051T>A c.*622A>T (n.*622A>T) | |
| 10 | g.102830941C>A | CA377938296 | CYP17A1,WBP1L | c.1288G>T (p.Val430Leu) c.985G>T (p.Val329Leu) c.832G>T (p.Val278Leu) c.1201G>T (p.Val401Leu) c.1291G>T (p.Val431Leu) n.1050G>T c.*623C>A (n.*623C>A) | gnomAD v4 |
| 10 | g.102830941C>G | CA377938297 | CYP17A1,WBP1L | c.1288G>C (p.Val430Leu) c.985G>C (p.Val329Leu) c.832G>C (p.Val278Leu) c.1201G>C (p.Val401Leu) c.1291G>C (p.Val431Leu) n.1050G>C c.*623C>G (n.*623C>G) | |
| 10 | g.102830941C>T | CA377938298 | CYP17A1,WBP1L | c.1288G>A (p.Val430Ile) c.985G>A (p.Val329Ile) c.832G>A (p.Val278Ile) c.1201G>A (p.Val401Ile) c.1291G>A (p.Val431Ile) n.1050G>A c.*623C>T (n.*623C>T) | gnomAD v4 |
| 10 | g.102830942T>A | CA471287388 | CYP17A1,WBP1L | c.1287A>T (p.Ser429=) c.984A>T (p.Ser328=) c.831A>T (p.Ser277=) c.1200A>T (p.Ser400=) c.1290A>T (p.Ser430=) n.1049A>T c.*624T>A (n.*624T>A) | |
| 10 | g.102830942T>C | CA471287389 | CYP17A1,WBP1L | c.1287A>G (p.Ser429=) c.984A>G (p.Ser328=) c.831A>G (p.Ser277=) c.1200A>G (p.Ser400=) c.1290A>G (p.Ser430=) n.1049A>G c.*624T>C (n.*624T>C) | dbSNP |
| 10 | g.102830942T>G | CA471287392 | CYP17A1,WBP1L | c.1287A>C (p.Ser429=) c.984A>C (p.Ser328=) c.831A>C (p.Ser277=) c.1200A>C (p.Ser400=) c.1290A>C (p.Ser430=) n.1049A>C c.*624T>G (n.*624T>G) | |
| 10 | g.102830942T= | CA1932867198 | CYP17A1,WBP1L | c.1287A= (p.Ser429=) c.984A= (p.Ser328=) c.831A= (p.Ser277=) c.1200A= (p.Ser400=) c.1290A= (p.Ser430=) n.1049A= c.*624T= (n.*624T=) | |
| 10 | g.102830943G>A | CA377938299 | CYP17A1,WBP1L | c.1286C>T (p.Ser429Leu) c.983C>T (p.Ser328Leu) c.830C>T (p.Ser277Leu) c.1199C>T (p.Ser400Leu) c.1289C>T (p.Ser430Leu) n.1048C>T c.*625G>A (n.*625G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.102830943G>C | CA377938300 | CYP17A1,WBP1L | c.1286C>G (p.Ser429Ter) c.983C>G (p.Ser328Ter) c.830C>G (p.Ser277Ter) c.1199C>G (p.Ser400Ter) c.1289C>G (p.Ser430Ter) n.1048C>G c.*625G>C (n.*625G>C) | |
| 10 | g.102830943G= | CA1932867203 | CYP17A1,WBP1L | c.1286C= (p.Ser429=) c.983C= (p.Ser328=) c.830C= (p.Ser277=) c.1199C= (p.Ser400=) c.1289C= (p.Ser430=) n.1048C= c.*625G= (n.*625G=) | |
| 10 | g.102830943G>T | CA377938301 | CYP17A1,WBP1L | c.1286C>A (p.Ser429Ter) c.983C>A (p.Ser328Ter) c.830C>A (p.Ser277Ter) c.1199C>A (p.Ser400Ter) c.1289C>A (p.Ser430Ter) n.1048C>A c.*625G>T (n.*625G>T) | gnomAD v4 |
| 10 | g.102830944A>C | CA377938302 | CYP17A1,WBP1L | c.1285T>G (p.Ser429Ala) c.982T>G (p.Ser328Ala) c.829T>G (p.Ser277Ala) c.1198T>G (p.Ser400Ala) c.1288T>G (p.Ser430Ala) n.1047T>G c.*626A>C (n.*626A>C) | |
| 10 | g.102830944A>G | CA377938303 | CYP17A1,WBP1L | c.1285T>C (p.Ser429Pro) c.982T>C (p.Ser328Pro) c.829T>C (p.Ser277Pro) c.1198T>C (p.Ser400Pro) c.1288T>C (p.Ser430Pro) n.1047T>C c.*626A>G (n.*626A>G) | gnomAD v4 |
| 10 | g.102830944A>T | CA377938304 | CYP17A1,WBP1L | c.1285T>A (p.Ser429Thr) c.982T>A (p.Ser328Thr) c.829T>A (p.Ser277Thr) c.1198T>A (p.Ser400Thr) c.1288T>A (p.Ser430Thr) n.1047T>A c.*626A>T (n.*626A>T) | |
| 10 | g.102830945del | CA2574654675 | CYP17A1,WBP1L | c.1284del (p.Ser429GlnfsTer2) c.981del (p.Ser328GlnfsTer2) c.828del (p.Ser277GlnfsTer2) c.1197del (p.Ser400GlnfsTer2) c.1287del (p.Ser430GlnfsTer2) n.1046del c.*627del (n.*627del) | |
| 10 | g.102830945C>A | CA471287399 | CYP17A1,WBP1L | c.1284G>T (p.Pro428=) c.981G>T (p.Pro327=) c.828G>T (p.Pro276=) c.1197G>T (p.Pro399=) c.1287G>T (p.Pro429=) n.1046G>T c.*627C>A (n.*627C>A) | gnomAD v4 |
| 10 | g.102830945C= | CA1932867211 | CYP17A1,WBP1L | c.1284G= (p.Pro428=) c.981G= (p.Pro327=) c.828G= (p.Pro276=) c.1197G= (p.Pro399=) c.1287G= (p.Pro429=) n.1046G= c.*627C= (n.*627C=) | |
| 10 | g.102830945C>G | CA471287401 | CYP17A1,WBP1L | c.1284G>C (p.Pro428=) c.981G>C (p.Pro327=) c.828G>C (p.Pro276=) c.1197G>C (p.Pro399=) c.1287G>C (p.Pro429=) n.1046G>C c.*627C>G (n.*627C>G) | |
| 10 | g.102830945C>T | CA5669344 | CYP17A1,WBP1L | c.1284G>A (p.Pro428=) c.981G>A (p.Pro327=) c.828G>A (p.Pro276=) c.1197G>A (p.Pro399=) c.1287G>A (p.Pro429=) n.1046G>A c.*627C>T (n.*627C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.102830946G>A | CA115195 | CYP17A1,WBP1L | c.1283C>T (p.Pro428Leu) c.980C>T (p.Pro327Leu) c.827C>T (p.Pro276Leu) c.1196C>T (p.Pro399Leu) c.1286C>T (p.Pro429Leu) n.1045C>T c.*628G>A (n.*628G>A) | ClinVar dbSNP gnomAD v4 |
| 10 | g.102830946G>C | CA377938306 | CYP17A1,WBP1L | c.1283C>G (p.Pro428Arg) c.980C>G (p.Pro327Arg) c.827C>G (p.Pro276Arg) c.1196C>G (p.Pro399Arg) c.1286C>G (p.Pro429Arg) n.1045C>G c.*628G>C (n.*628G>C) | |
| 10 | g.102830946G= | CA1932867223 | CYP17A1,WBP1L | c.1283C= (p.Pro428=) c.980C= (p.Pro327=) c.827C= (p.Pro276=) c.1196C= (p.Pro399=) c.1286C= (p.Pro429=) n.1045C= c.*628G= (n.*628G=) | |
| 10 | g.102830946G>T | CA377938305 | CYP17A1,WBP1L | c.1283C>A (p.Pro428Gln) c.980C>A (p.Pro327Gln) c.827C>A (p.Pro276Gln) c.1196C>A (p.Pro399Gln) c.1286C>A (p.Pro429Gln) n.1045C>A c.*628G>T (n.*628G>T) | gnomAD v4 |
| 10 | g.102830947G>A | CA377938307 | CYP17A1,WBP1L | c.1282C>T (p.Pro428Ser) c.979C>T (p.Pro327Ser) c.826C>T (p.Pro276Ser) c.1195C>T (p.Pro399Ser) c.1285C>T (p.Pro429Ser) n.1044C>T c.*628+1G>A (n.*628+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102830947G>C | CA377938308 | CYP17A1,WBP1L | c.1282C>G (p.Pro428Ala) c.979C>G (p.Pro327Ala) c.826C>G (p.Pro276Ala) c.1195C>G (p.Pro399Ala) c.1285C>G (p.Pro429Ala) n.1044C>G c.*628+1G>C (n.*628+1G>C) | gnomAD v4 |
| 10 | g.102830947G= | CA1932867236 | CYP17A1,WBP1L | c.1282C= (p.Pro428=) c.979C= (p.Pro327=) c.826C= (p.Pro276=) c.1195C= (p.Pro399=) c.1285C= (p.Pro429=) n.1044C= c.*628+1G= (n.*628+1G=) | |
| 10 | g.102830947G>T | CA5669345 | CYP17A1,WBP1L | c.1282C>A (p.Pro428Thr) c.979C>A (p.Pro327Thr) c.826C>A (p.Pro276Thr) c.1195C>A (p.Pro399Thr) c.1285C>A (p.Pro429Thr) n.1044C>A c.*628+1G>T (n.*628+1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.102830948T>A | CA471287408 | CYP17A1,WBP1L | c.1281A>T (p.Ser427=) c.978A>T (p.Ser326=) c.825A>T (p.Ser275=) c.1194A>T (p.Ser398=) c.1284A>T (p.Ser428=) n.1043A>T c.*628+2T>A (n.*628+2T>A) n.234A>T | |
| 10 | g.102830948T>C | CA471287411 | CYP17A1,WBP1L | c.1281A>G (p.Ser427=) c.978A>G (p.Ser326=) c.825A>G (p.Ser275=) c.1194A>G (p.Ser398=) c.1284A>G (p.Ser428=) n.1043A>G c.*628+2T>C (n.*628+2T>C) n.234A>G | dbSNP |
| 10 | g.102830948T>G | CA471287410 | CYP17A1,WBP1L | c.1281A>C (p.Ser427=) c.978A>C (p.Ser326=) c.825A>C (p.Ser275=) c.1194A>C (p.Ser398=) c.1284A>C (p.Ser428=) n.1043A>C c.*628+2T>G (n.*628+2T>G) n.234A>C | gnomAD v4 |
| 10 | g.102830948T= | CA1932867248 | CYP17A1,WBP1L | c.1281A= (p.Ser427=) c.978A= (p.Ser326=) c.825A= (p.Ser275=) c.1194A= (p.Ser398=) c.1284A= (p.Ser428=) n.1043A= c.*628+2T= (n.*628+2T=) n.234A= | |
| 10 | g.102830949G>A | CA377938309 | CYP17A1,WBP1L | c.1280C>T (p.Ser427Leu) c.977C>T (p.Ser326Leu) c.824C>T (p.Ser275Leu) c.1193C>T (p.Ser398Leu) c.1283C>T (p.Ser428Leu) n.1042C>T c.*628+3G>A (n.*628+3G>A) n.233C>T | gnomAD v4 |
| 10 | g.102830949G>C | CA377938310 | CYP17A1,WBP1L | c.1280C>G (p.Ser427Ter) c.977C>G (p.Ser326Ter) c.824C>G (p.Ser275Ter) c.1193C>G (p.Ser398Ter) c.1283C>G (p.Ser428Ter) n.1042C>G c.*628+3G>C (n.*628+3G>C) n.233C>G | |
| 10 | g.102830949G>T | CA377938311 | CYP17A1,WBP1L | c.1280C>A (p.Ser427Ter) c.977C>A (p.Ser326Ter) c.824C>A (p.Ser275Ter) c.1193C>A (p.Ser398Ter) c.1283C>A (p.Ser428Ter) n.1042C>A c.*628+3G>T (n.*628+3G>T) n.233C>A | gnomAD v4 |
| 10 | g.102830950A>C | CA377938312 | CYP17A1,WBP1L | c.1279T>G (p.Ser427Ala) c.976T>G (p.Ser326Ala) c.823T>G (p.Ser275Ala) c.1192T>G (p.Ser398Ala) c.1282T>G (p.Ser428Ala) n.1041T>G c.*628+4A>C (n.*628+4A>C) n.232T>G | |
| 10 | g.102830950A>G | CA377938313 | CYP17A1,WBP1L | c.1279T>C (p.Ser427Pro) c.976T>C (p.Ser326Pro) c.823T>C (p.Ser275Pro) c.1192T>C (p.Ser398Pro) c.1282T>C (p.Ser428Pro) n.1041T>C c.*628+4A>G (n.*628+4A>G) n.232T>C | gnomAD v4 |
| 10 | g.102830950A>T | CA377938314 | CYP17A1,WBP1L | c.1279T>A (p.Ser427Thr) c.976T>A (p.Ser326Thr) c.823T>A (p.Ser275Thr) c.1192T>A (p.Ser398Thr) c.1282T>A (p.Ser428Thr) n.1041T>A c.*628+4A>T (n.*628+4A>T) n.232T>A | gnomAD v4 |
| 10 | g.102830951G>A | CA471287417 | CYP17A1,WBP1L | c.1278C>T (p.Ile426=) c.975C>T (p.Ile325=) c.822C>T (p.Ile274=) c.1191C>T (p.Ile397=) c.1281C>T (p.Ile427=) n.1040C>T c.*628+5G>A (n.*628+5G>A) n.231C>T | gnomAD v4 |
| 10 | g.102830951G>C | CA377938315 | CYP17A1,WBP1L | c.1278C>G (p.Ile426Met) c.975C>G (p.Ile325Met) c.822C>G (p.Ile274Met) c.1191C>G (p.Ile397Met) c.1281C>G (p.Ile427Met) n.1040C>G c.*628+5G>C (n.*628+5G>C) n.231C>G | |
| 10 | g.102830951G>T | CA471287420 | CYP17A1,WBP1L | c.1278C>A (p.Ile426=) c.975C>A (p.Ile325=) c.822C>A (p.Ile274=) c.1191C>A (p.Ile397=) c.1281C>A (p.Ile427=) n.1040C>A c.*628+5G>T (n.*628+5G>T) n.231C>A | gnomAD v4 |
| 10 | g.102830952A>C | CA377938317 | CYP17A1,WBP1L | c.1277T>G (p.Ile426Ser) c.974T>G (p.Ile325Ser) c.821T>G (p.Ile274Ser) c.1190T>G (p.Ile397Ser) c.1280T>G (p.Ile427Ser) n.1039T>G c.*628+6A>C (n.*628+6A>C) n.230T>G | |
| 10 | g.102830952A>G | CA377938318 | CYP17A1,WBP1L | c.1277T>C (p.Ile426Thr) c.974T>C (p.Ile325Thr) c.821T>C (p.Ile274Thr) c.1190T>C (p.Ile397Thr) c.1280T>C (p.Ile427Thr) n.1039T>C c.*628+6A>G (n.*628+6A>G) n.230T>C | gnomAD v4 |
| 10 | g.102830952A>T | CA377938316 | CYP17A1,WBP1L | c.1277T>A (p.Ile426Asn) c.974T>A (p.Ile325Asn) c.821T>A (p.Ile274Asn) c.1190T>A (p.Ile397Asn) c.1280T>A (p.Ile427Asn) n.1039T>A c.*628+6A>T (n.*628+6A>T) n.230T>A | |
| 10 | g.102830953T>A | CA377938321 | CYP17A1,WBP1L | c.1276A>T (p.Ile426Phe) c.973A>T (p.Ile325Phe) c.820A>T (p.Ile274Phe) c.1189A>T (p.Ile397Phe) c.1279A>T (p.Ile427Phe) n.1038A>T c.*628+7T>A (n.*628+7T>A) n.229A>T | gnomAD v4 |
| 10 | g.102830953T>C | CA377938319 | CYP17A1,WBP1L | c.1276A>G (p.Ile426Val) c.973A>G (p.Ile325Val) c.820A>G (p.Ile274Val) c.1189A>G (p.Ile397Val) c.1279A>G (p.Ile427Val) n.1038A>G c.*628+7T>C (n.*628+7T>C) n.229A>G | gnomAD v4 |
| 10 | g.102830953T>G | CA377938320 | CYP17A1,WBP1L | c.1276A>C (p.Ile426Leu) c.973A>C (p.Ile325Leu) c.820A>C (p.Ile274Leu) c.1189A>C (p.Ile397Leu) c.1279A>C (p.Ile427Leu) n.1038A>C c.*628+7T>G (n.*628+7T>G) n.229A>C | |
| 10 | g.102830954G>A | CA471287424 | CYP17A1,WBP1L | c.1275C>T (p.Leu425=) c.972C>T (p.Leu324=) c.819C>T (p.Leu273=) c.1188C>T (p.Leu396=) c.1278C>T (p.Leu426=) n.1037C>T c.*628+8G>A (n.*628+8G>A) n.228C>T | gnomAD v4 |
| 10 | g.102830954G>C | CA471287428 | CYP17A1,WBP1L | c.1275C>G (p.Leu425=) c.972C>G (p.Leu324=) c.819C>G (p.Leu273=) c.1188C>G (p.Leu396=) c.1278C>G (p.Leu426=) n.1037C>G c.*628+8G>C (n.*628+8G>C) n.228C>G | |
| 10 | g.102830954G>T | CA471287426 | CYP17A1,WBP1L | c.1275C>A (p.Leu425=) c.972C>A (p.Leu324=) c.819C>A (p.Leu273=) c.1188C>A (p.Leu396=) c.1278C>A (p.Leu426=) n.1037C>A c.*628+8G>T (n.*628+8G>T) n.228C>A | gnomAD v4 |
| 10 | g.102830955A>C | CA377938322 | CYP17A1,WBP1L | c.1274T>G (p.Leu425Arg) c.971T>G (p.Leu324Arg) c.818T>G (p.Leu273Arg) c.1187T>G (p.Leu396Arg) c.1277T>G (p.Leu426Arg) n.1036T>G c.*628+9A>C (n.*628+9A>C) n.227T>G | |
| 10 | g.102830955A>G | CA377938323 | CYP17A1,WBP1L | c.1274T>C (p.Leu425Pro) c.971T>C (p.Leu324Pro) c.818T>C (p.Leu273Pro) c.1187T>C (p.Leu396Pro) c.1277T>C (p.Leu426Pro) n.1036T>C c.*628+9A>G (n.*628+9A>G) n.227T>C | gnomAD v4 |
| 10 | g.102830955A>T | CA377938324 | CYP17A1,WBP1L | c.1274T>A (p.Leu425His) c.971T>A (p.Leu324His) c.818T>A (p.Leu273His) c.1187T>A (p.Leu396His) c.1277T>A (p.Leu426His) n.1036T>A c.*628+9A>T (n.*628+9A>T) n.227T>A | |
| 10 | g.102830955_102830957dup | CA2789274238 | CYP17A1,WBP1L | c.1272_1274dup (p.Leu425_Ile426insLeu) c.969_971dup (p.Leu324_Ile325insLeu) c.816_818dup (p.Leu273_Ile274insLeu) c.1185_1187dup (p.Leu396_Ile397insLeu) c.1275_1277dup (p.Leu426_Ile427insLeu) n.1034_1036dup c.*628+9_*628+11dup (n.*628+9_*628+11dup) n.225_227dup | |
| 10 | g.102830956G>A | CA377938325 | CYP17A1,WBP1L | c.1273C>T (p.Leu425Phe) c.970C>T (p.Leu324Phe) c.817C>T (p.Leu273Phe) c.1186C>T (p.Leu396Phe) c.1276C>T (p.Leu426Phe) n.1035C>T c.*628+10G>A (n.*628+10G>A) n.226C>T | gnomAD v4 |
| 10 | g.102830956G>C | CA377938326 | CYP17A1,WBP1L | c.1273C>G (p.Leu425Val) c.970C>G (p.Leu324Val) c.817C>G (p.Leu273Val) c.1186C>G (p.Leu396Val) c.1276C>G (p.Leu426Val) n.1035C>G c.*628+10G>C (n.*628+10G>C) n.226C>G | |
| 10 | g.102830956G>T | CA377938327 | CYP17A1,WBP1L | c.1273C>A (p.Leu425Ile) c.970C>A (p.Leu324Ile) c.817C>A (p.Leu273Ile) c.1186C>A (p.Leu396Ile) c.1276C>A (p.Leu426Ile) n.1035C>A c.*628+10G>T (n.*628+10G>T) n.226C>A | gnomAD v4 |
| 10 | g.102830957C>A | CA377938328 | CYP17A1,WBP1L | c.1272G>T (p.Gln424His) c.969G>T (p.Gln323His) c.816G>T (p.Gln272His) c.1185G>T (p.Gln395His) c.1275G>T (p.Gln425His) n.1034G>T c.*628+11C>A (n.*628+11C>A) n.225G>T | gnomAD v4 |
| 10 | g.102830957C= | CA1932867250 | CYP17A1,WBP1L | c.1272G= (p.Gln424=) c.969G= (p.Gln323=) c.816G= (p.Gln272=) c.1185G= (p.Gln395=) c.1275G= (p.Gln425=) n.1034G= c.*628+11C= (n.*628+11C=) n.225G= | |
| 10 | g.102830957C>G | CA377938329 | CYP17A1,WBP1L | c.1272G>C (p.Gln424His) c.969G>C (p.Gln323His) c.816G>C (p.Gln272His) c.1185G>C (p.Gln395His) c.1275G>C (p.Gln425His) n.1034G>C c.*628+11C>G (n.*628+11C>G) n.225G>C | gnomAD v4 |
| 10 | g.102830957C>T | CA471287435 | CYP17A1,WBP1L | c.1272G>A (p.Gln424=) c.969G>A (p.Gln323=) c.816G>A (p.Gln272=) c.1185G>A (p.Gln395=) c.1275G>A (p.Gln425=) n.1034G>A c.*628+11C>T (n.*628+11C>T) n.225G>A | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102830958T>A | CA377938330 | CYP17A1,WBP1L | c.1271A>T (p.Gln424Leu) c.968A>T (p.Gln323Leu) c.815A>T (p.Gln272Leu) c.1184A>T (p.Gln395Leu) c.1274A>T (p.Gln425Leu) n.1033A>T c.*628+12T>A (n.*628+12T>A) n.224A>T | |
| 10 | g.102830958T>C | CA377938331 | CYP17A1,WBP1L | c.1271A>G (p.Gln424Arg) c.968A>G (p.Gln323Arg) c.815A>G (p.Gln272Arg) c.1184A>G (p.Gln395Arg) c.1274A>G (p.Gln425Arg) n.1033A>G c.*628+12T>C (n.*628+12T>C) n.224A>G | |
| 10 | g.102830958T>G | CA377938332 | CYP17A1,WBP1L | c.1271A>C (p.Gln424Pro) c.968A>C (p.Gln323Pro) c.815A>C (p.Gln272Pro) c.1184A>C (p.Gln395Pro) c.1274A>C (p.Gln425Pro) n.1033A>C c.*628+12T>G (n.*628+12T>G) n.224A>C | |
| 10 | g.102830958_102830959delinsTG | CA1932867252 | CYP17A1,WBP1L | c.1270_1271delinsCA (p.Gln424=) c.967_968delinsCA (p.Gln323=) c.814_815delinsCA (p.Gln272=) c.1183_1184delinsCA (p.Gln395=) c.1273_1274delinsCA (p.Gln425=) n.1032_1033delinsCA c.*628+12_*628+13delinsTG (n.*628+12_*628+13delinsTG) n.223_224delinsCA |