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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435827C>A | CA340609 | DHCR7 | c.976G>T (p.Val326Leu) c.802G>T (p.Val268Leu) c.1027G>T (p.Val343Leu) c.1012G>T (p.Val338Leu) c.984G>T (p.Trp328Cys) n.1016G>T c.391G>T (p.Val131Leu) c.880G>T (p.Val294Leu) c.477G>T (p.Trp159Cys) c.226G>T (p.Val76Leu) c.319+1985G>T c.1110G>T (p.Trp370Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435827C= | CA1981487047 | DHCR7 | c.976G= (p.Val326=) c.802G= (p.Val268=) c.1027G= (p.Val343=) c.1012G= (p.Val338=) c.984G= (p.Trp328=) n.1016G= c.391G= (p.Val131=) c.880G= (p.Val294=) c.477G= (p.Trp159=) c.226G= (p.Val76=) c.319+1985G= c.1110G= (p.Trp370=) | |
| 11 | g.71435827C>G | CA381702557 | DHCR7 | c.976G>C (p.Val326Leu) c.802G>C (p.Val268Leu) c.1027G>C (p.Val343Leu) c.1012G>C (p.Val338Leu) c.984G>C (p.Trp328Cys) n.1016G>C c.391G>C (p.Val131Leu) c.880G>C (p.Val294Leu) c.477G>C (p.Trp159Cys) c.226G>C (p.Val76Leu) c.319+1985G>C c.1110G>C (p.Trp370Cys) | |
| 11 | g.71435827C>T | CA381702558 | DHCR7 | c.976G>A (p.Val326Met) c.802G>A (p.Val268Met) c.1027G>A (p.Val343Met) c.1012G>A (p.Val338Met) c.984G>A (p.Trp328Ter) n.1016G>A c.391G>A (p.Val131Met) c.880G>A (p.Val294Met) c.477G>A (p.Trp159Ter) c.226G>A (p.Val76Met) c.319+1985G>A c.1110G>A (p.Trp370Ter) | |
| 11 | g.71435828C>A | CA381702559 | DHCR7 | c.975G>T (p.Leu325Phe) c.801G>T (p.Leu267Phe) c.1026G>T (p.Leu342Phe) c.1011G>T (p.Leu337Phe) c.983G>T (p.Trp328Leu) n.1015G>T c.390G>T (p.Leu130Phe) c.879G>T (p.Leu293Phe) c.476G>T (p.Trp159Leu) c.225G>T (p.Leu75Phe) c.319+1984G>T c.1109G>T (p.Trp370Leu) | |
| 11 | g.71435828C>G | CA381702560 | DHCR7 | c.975G>C (p.Leu325Phe) c.801G>C (p.Leu267Phe) c.1026G>C (p.Leu342Phe) c.1011G>C (p.Leu337Phe) c.983G>C (p.Trp328Ser) n.1015G>C c.390G>C (p.Leu130Phe) c.879G>C (p.Leu293Phe) c.476G>C (p.Trp159Ser) c.225G>C (p.Leu75Phe) c.319+1984G>C c.1109G>C (p.Trp370Ser) | |
| 11 | g.71435828C>T | CA381702561 | DHCR7 | c.975G>A (p.Leu325=) c.801G>A (p.Leu267=) c.1026G>A (p.Leu342=) c.1011G>A (p.Leu337=) c.983G>A (p.Trp328Ter) n.1015G>A c.390G>A (p.Leu130=) c.879G>A (p.Leu293=) c.476G>A (p.Trp159Ter) c.225G>A (p.Leu75=) c.319+1984G>A c.1109G>A (p.Trp370Ter) | |
| 11 | g.71435829A>C | CA381702562 | DHCR7 | c.974T>G (p.Leu325Trp) c.800T>G (p.Leu267Trp) c.1025T>G (p.Leu342Trp) c.1010T>G (p.Leu337Trp) c.982T>G (p.Trp328Gly) n.1014T>G c.389T>G (p.Leu130Trp) c.878T>G (p.Leu293Trp) c.475T>G (p.Trp159Gly) c.224T>G (p.Leu75Trp) c.319+1983T>G c.1108T>G (p.Trp370Gly) | |
| 11 | g.71435829A>G | CA381702563 | DHCR7 | c.974T>C (p.Leu325Ser) c.800T>C (p.Leu267Ser) c.1025T>C (p.Leu342Ser) c.1010T>C (p.Leu337Ser) c.982T>C (p.Trp328Arg) n.1014T>C c.389T>C (p.Leu130Ser) c.878T>C (p.Leu293Ser) c.475T>C (p.Trp159Arg) c.224T>C (p.Leu75Ser) c.319+1983T>C c.1108T>C (p.Trp370Arg) | gnomAD v4 |
| 11 | g.71435829A>T | CA381702564 | DHCR7 | c.974T>A (p.Leu325Ter) c.800T>A (p.Leu267Ter) c.1025T>A (p.Leu342Ter) c.1010T>A (p.Leu337Ter) c.982T>A (p.Trp328Arg) n.1014T>A c.389T>A (p.Leu130Ter) c.878T>A (p.Leu293Ter) c.475T>A (p.Trp159Arg) c.224T>A (p.Leu75Ter) c.319+1983T>A c.1108T>A (p.Trp370Arg) | |
| 11 | g.71435830A>C | CA381702565 | DHCR7 | c.973T>G (p.Leu325Val) c.799T>G (p.Leu267Val) c.1024T>G (p.Leu342Val) c.1009T>G (p.Leu337Val) c.981T>G (p.Thr327=) n.1013T>G c.388T>G (p.Leu130Val) c.877T>G (p.Leu293Val) c.474T>G (p.Thr158=) c.223T>G (p.Leu75Val) c.319+1982T>G c.1107T>G (p.Thr369=) | |
| 11 | g.71435830A>G | CA475860863 | DHCR7 | c.973T>C (p.Leu325=) c.799T>C (p.Leu267=) c.1024T>C (p.Leu342=) c.1009T>C (p.Leu337=) c.981T>C (p.Thr327=) n.1013T>C c.388T>C (p.Leu130=) c.877T>C (p.Leu293=) c.474T>C (p.Thr158=) c.223T>C (p.Leu75=) c.319+1982T>C c.1107T>C (p.Thr369=) | |
| 11 | g.71435830A>T | CA381702566 | DHCR7 | c.973T>A (p.Leu325Met) c.799T>A (p.Leu267Met) c.1024T>A (p.Leu342Met) c.1009T>A (p.Leu337Met) c.981T>A (p.Thr327=) n.1013T>A c.388T>A (p.Leu130Met) c.877T>A (p.Leu293Met) c.474T>A (p.Thr158=) c.223T>A (p.Leu75Met) c.319+1982T>A c.1107T>A (p.Thr369=) | |
| 11 | g.71435831G>A | CA381702567 | DHCR7 | c.972C>T (p.Tyr324=) c.798C>T (p.Tyr266=) c.1023C>T (p.Tyr341=) c.1008C>T (p.Tyr336=) c.980C>T (p.Thr327Ile) n.1012C>T c.387C>T (p.Tyr129=) c.876C>T (p.Tyr292=) c.473C>T (p.Thr158Ile) c.222C>T (p.Tyr74=) c.319+1981C>T c.1106C>T (p.Thr369Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71435831G>C | CA381702568 | DHCR7 | c.972C>G (p.Tyr324Ter) c.798C>G (p.Tyr266Ter) c.1023C>G (p.Tyr341Ter) c.1008C>G (p.Tyr336Ter) c.980C>G (p.Thr327Ser) n.1012C>G c.387C>G (p.Tyr129Ter) c.876C>G (p.Tyr292Ter) c.473C>G (p.Thr158Ser) c.222C>G (p.Tyr74Ter) c.319+1981C>G c.1106C>G (p.Thr369Ser) | |
| 11 | g.71435831G= | CA1981487048 | DHCR7 | c.972C= (p.Tyr324=) c.798C= (p.Tyr266=) c.1023C= (p.Tyr341=) c.1008C= (p.Tyr336=) c.980C= (p.Thr327=) n.1012C= c.387C= (p.Tyr129=) c.876C= (p.Tyr292=) c.473C= (p.Thr158=) c.222C= (p.Tyr74=) c.319+1981C= c.1106C= (p.Thr369=) | |
| 11 | g.71435831G>T | CA381702569 | DHCR7 | c.972C>A (p.Tyr324Ter) c.798C>A (p.Tyr266Ter) c.1023C>A (p.Tyr341Ter) c.1008C>A (p.Tyr336Ter) c.980C>A (p.Thr327Asn) n.1012C>A c.387C>A (p.Tyr129Ter) c.876C>A (p.Tyr292Ter) c.473C>A (p.Thr158Asn) c.222C>A (p.Tyr74Ter) c.319+1981C>A c.1106C>A (p.Thr369Asn) | gnomAD v4 |
| 11 | g.71435832T>A | CA381702572 | DHCR7 | c.971A>T (p.Tyr324Phe) c.797A>T (p.Tyr266Phe) c.1022A>T (p.Tyr341Phe) c.1007A>T (p.Tyr336Phe) c.979A>T (p.Thr327Ser) n.1011A>T c.386A>T (p.Tyr129Phe) c.875A>T (p.Tyr292Phe) c.472A>T (p.Thr158Ser) c.221A>T (p.Tyr74Phe) c.319+1980A>T c.1105A>T (p.Thr369Ser) | |
| 11 | g.71435832T>C | CA381702571 | DHCR7 | c.971A>G (p.Tyr324Cys) c.797A>G (p.Tyr266Cys) c.1022A>G (p.Tyr341Cys) c.1007A>G (p.Tyr336Cys) c.979A>G (p.Thr327Ala) n.1011A>G c.386A>G (p.Tyr129Cys) c.875A>G (p.Tyr292Cys) c.472A>G (p.Thr158Ala) c.221A>G (p.Tyr74Cys) c.319+1980A>G c.1105A>G (p.Thr369Ala) | dbSNP |
| 11 | g.71435832T>G | CA381702570 | DHCR7 | c.971A>C (p.Tyr324Ser) c.797A>C (p.Tyr266Ser) c.1022A>C (p.Tyr341Ser) c.1007A>C (p.Tyr336Ser) c.979A>C (p.Thr327Pro) n.1011A>C c.386A>C (p.Tyr129Ser) c.875A>C (p.Tyr292Ser) c.472A>C (p.Thr158Pro) c.221A>C (p.Tyr74Ser) c.319+1980A>C c.1105A>C (p.Thr369Pro) | |
| 11 | g.71435832T= | CA1981487049 | DHCR7 | c.971A= (p.Tyr324=) c.797A= (p.Tyr266=) c.1022A= (p.Tyr341=) c.1007A= (p.Tyr336=) c.979A= (p.Thr327=) n.1011A= c.386A= (p.Tyr129=) c.875A= (p.Tyr292=) c.472A= (p.Thr158=) c.221A= (p.Tyr74=) c.319+1980A= c.1105A= (p.Thr369=) | |
| 11 | g.71435833A= | CA1981487050 | DHCR7 | c.970T= (p.Tyr324=) c.796T= (p.Tyr266=) c.1021T= (p.Tyr341=) c.1006T= (p.Tyr336=) c.978T= (p.Cys326=) n.1010T= c.385T= (p.Tyr129=) c.874T= (p.Tyr292=) c.471T= (p.Cys157=) c.220T= (p.Tyr74=) c.319+1979T= c.1104T= (p.Cys368=) | |
| 11 | g.71435833A>C | CA381702575 | DHCR7 | c.970T>G (p.Tyr324Asp) c.796T>G (p.Tyr266Asp) c.1021T>G (p.Tyr341Asp) c.1006T>G (p.Tyr336Asp) c.978T>G (p.Cys326Trp) n.1010T>G c.385T>G (p.Tyr129Asp) c.874T>G (p.Tyr292Asp) c.471T>G (p.Cys157Trp) c.220T>G (p.Tyr74Asp) c.319+1979T>G c.1104T>G (p.Cys368Trp) | |
| 11 | g.71435833A>G | CA381702573 | DHCR7 | c.970T>C (p.Tyr324His) c.796T>C (p.Tyr266His) c.1021T>C (p.Tyr341His) c.1006T>C (p.Tyr336His) c.978T>C (p.Cys326=) n.1010T>C c.385T>C (p.Tyr129His) c.874T>C (p.Tyr292His) c.471T>C (p.Cys157=) c.220T>C (p.Tyr74His) c.319+1979T>C c.1104T>C (p.Cys368=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.71435833A>T | CA381702574 | DHCR7 | c.970T>A (p.Tyr324Asn) c.796T>A (p.Tyr266Asn) c.1021T>A (p.Tyr341Asn) c.1006T>A (p.Tyr336Asn) c.978T>A (p.Cys326Ter) n.1010T>A c.385T>A (p.Tyr129Asn) c.874T>A (p.Tyr292Asn) c.471T>A (p.Cys157Ter) c.220T>A (p.Tyr74Asn) c.319+1979T>A c.1104T>A (p.Cys368Ter) | |
| 11 | g.71435834_71435835del | CA2573147613 | DHCR7 | c.969_970del (p.Tyr324LeufsTer?) c.795_796del (p.Tyr266LeufsTer?) c.1020_1021del (p.Tyr341LeufsTer?) c.1005_1006del (p.Tyr336LeufsTer?) c.977_978del (p.Cys326TyrfsTer?) n.1009_1010del c.384_385del (p.Tyr129LeufsTer?) c.873_874del (p.Tyr292LeufsTer?) c.470_471del (p.Cys157TyrfsTer?) c.219_220del (p.Tyr74LeufsTer?) c.319+1978_319+1979del c.1103_1104del (p.Cys368TyrfsTer?) | ClinVar dbSNP |
| 11 | g.71435834C>A | CA381702576 | DHCR7 | c.969G>T (p.Leu323=) c.795G>T (p.Leu265=) c.1020G>T (p.Leu340=) c.1005G>T (p.Leu335=) c.977G>T (p.Cys326Phe) n.1009G>T c.384G>T (p.Leu128=) c.873G>T (p.Leu291=) c.470G>T (p.Cys157Phe) c.219G>T (p.Leu73=) c.319+1978G>T c.1103G>T (p.Cys368Phe) | |
| 11 | g.71435834C>G | CA381702577 | DHCR7 | c.969G>C (p.Leu323=) c.795G>C (p.Leu265=) c.1020G>C (p.Leu340=) c.1005G>C (p.Leu335=) c.977G>C (p.Cys326Ser) n.1009G>C c.384G>C (p.Leu128=) c.873G>C (p.Leu291=) c.470G>C (p.Cys157Ser) c.219G>C (p.Leu73=) c.319+1978G>C c.1103G>C (p.Cys368Ser) | |
| 11 | g.71435834C>T | CA381702578 | DHCR7 | c.969G>A (p.Leu323=) c.795G>A (p.Leu265=) c.1020G>A (p.Leu340=) c.1005G>A (p.Leu335=) c.977G>A (p.Cys326Tyr) n.1009G>A c.384G>A (p.Leu128=) c.873G>A (p.Leu291=) c.470G>A (p.Cys157Tyr) c.219G>A (p.Leu73=) c.319+1978G>A c.1103G>A (p.Cys368Tyr) | gnomAD v4 |
| 11 | g.71435835A>C | CA381702579 | DHCR7 | c.968T>G (p.Leu323Arg) c.794T>G (p.Leu265Arg) c.1019T>G (p.Leu340Arg) c.1004T>G (p.Leu335Arg) c.976T>G (p.Cys326Gly) n.1008T>G c.383T>G (p.Leu128Arg) c.872T>G (p.Leu291Arg) c.469T>G (p.Cys157Gly) c.218T>G (p.Leu73Arg) c.319+1977T>G c.1102T>G (p.Cys368Gly) | |
| 11 | g.71435835A>G | CA381702580 | DHCR7 | c.968T>C (p.Leu323Pro) c.794T>C (p.Leu265Pro) c.1019T>C (p.Leu340Pro) c.1004T>C (p.Leu335Pro) c.976T>C (p.Cys326Arg) n.1008T>C c.383T>C (p.Leu128Pro) c.872T>C (p.Leu291Pro) c.469T>C (p.Cys157Arg) c.218T>C (p.Leu73Pro) c.319+1977T>C c.1102T>C (p.Cys368Arg) | |
| 11 | g.71435835A>T | CA381702581 | DHCR7 | c.968T>A (p.Leu323Gln) c.794T>A (p.Leu265Gln) c.1019T>A (p.Leu340Gln) c.1004T>A (p.Leu335Gln) c.976T>A (p.Cys326Ser) n.1008T>A c.383T>A (p.Leu128Gln) c.872T>A (p.Leu291Gln) c.469T>A (p.Cys157Ser) c.218T>A (p.Leu73Gln) c.319+1977T>A c.1102T>A (p.Cys368Ser) | |
| 11 | g.71435836G>A | CA475860867 | DHCR7 | c.967C>T (p.Leu323=) c.793C>T (p.Leu265=) c.1018C>T (p.Leu340=) c.1003C>T (p.Leu335=) c.975C>T (p.Val325=) n.1007C>T c.382C>T (p.Leu128=) c.871C>T (p.Leu291=) c.468C>T (p.Val156=) c.217C>T (p.Leu73=) c.319+1976C>T c.1101C>T (p.Val367=) | |
| 11 | g.71435836G>C | CA381702582 | DHCR7 | c.967C>G (p.Leu323Val) c.793C>G (p.Leu265Val) c.1018C>G (p.Leu340Val) c.1003C>G (p.Leu335Val) c.975C>G (p.Val325=) n.1007C>G c.382C>G (p.Leu128Val) c.871C>G (p.Leu291Val) c.468C>G (p.Val156=) c.217C>G (p.Leu73Val) c.319+1976C>G c.1101C>G (p.Val367=) | |
| 11 | g.71435836G>T | CA381702583 | DHCR7 | c.967C>A (p.Leu323Met) c.793C>A (p.Leu265Met) c.1018C>A (p.Leu340Met) c.1003C>A (p.Leu335Met) c.975C>A (p.Val325=) n.1007C>A c.382C>A (p.Leu128Met) c.871C>A (p.Leu291Met) c.468C>A (p.Val156=) c.217C>A (p.Leu73Met) c.319+1976C>A c.1101C>A (p.Val367=) | |
| 11 | g.71435837A>C | CA381702584 | DHCR7 | c.966T>G (p.Gly322=) c.792T>G (p.Gly264=) c.1017T>G (p.Gly339=) c.1002T>G (p.Gly334=) c.974T>G (p.Val325Gly) n.1006T>G c.381T>G (p.Gly127=) c.870T>G (p.Gly290=) c.467T>G (p.Val156Gly) c.216T>G (p.Gly72=) c.319+1975T>G c.1100T>G (p.Val367Gly) | |
| 11 | g.71435837A>G | CA381702585 | DHCR7 | c.966T>C (p.Gly322=) c.792T>C (p.Gly264=) c.1017T>C (p.Gly339=) c.1002T>C (p.Gly334=) c.974T>C (p.Val325Ala) n.1006T>C c.381T>C (p.Gly127=) c.870T>C (p.Gly290=) c.467T>C (p.Val156Ala) c.216T>C (p.Gly72=) c.319+1975T>C c.1100T>C (p.Val367Ala) | |
| 11 | g.71435837A>T | CA381702586 | DHCR7 | c.966T>A (p.Gly322=) c.792T>A (p.Gly264=) c.1017T>A (p.Gly339=) c.1002T>A (p.Gly334=) c.974T>A (p.Val325Asp) n.1006T>A c.381T>A (p.Gly127=) c.870T>A (p.Gly290=) c.467T>A (p.Val156Asp) c.216T>A (p.Gly72=) c.319+1975T>A c.1100T>A (p.Val367Asp) | |
| 11 | g.71435838C>A | CA381702589 | DHCR7 | c.965G>T (p.Gly322Val) c.791G>T (p.Gly264Val) c.1016G>T (p.Gly339Val) c.1001G>T (p.Gly334Val) c.973G>T (p.Val325Phe) n.1005G>T c.380G>T (p.Gly127Val) c.869G>T (p.Gly290Val) c.466G>T (p.Val156Phe) c.215G>T (p.Gly72Val) c.319+1974G>T c.1099G>T (p.Val367Phe) | gnomAD v4 |
| 11 | g.71435838C>G | CA381702587 | DHCR7 | c.965G>C (p.Gly322Ala) c.791G>C (p.Gly264Ala) c.1016G>C (p.Gly339Ala) c.1001G>C (p.Gly334Ala) c.973G>C (p.Val325Leu) n.1005G>C c.380G>C (p.Gly127Ala) c.869G>C (p.Gly290Ala) c.466G>C (p.Val156Leu) c.215G>C (p.Gly72Ala) c.319+1974G>C c.1099G>C (p.Val367Leu) | |
| 11 | g.71435838C>T | CA381702588 | DHCR7 | c.965G>A (p.Gly322Asp) c.791G>A (p.Gly264Asp) c.1016G>A (p.Gly339Asp) c.1001G>A (p.Gly334Asp) c.973G>A (p.Val325Ile) n.1005G>A c.380G>A (p.Gly127Asp) c.869G>A (p.Gly290Asp) c.466G>A (p.Val156Ile) c.215G>A (p.Gly72Asp) c.319+1974G>A c.1099G>A (p.Val367Ile) | |
| 11 | g.71435839C>A | CA381702590 | DHCR7 | c.964G>T (p.Gly322Cys) c.790G>T (p.Gly264Cys) c.1015G>T (p.Gly339Cys) c.1000G>T (p.Gly334Cys) c.972G>T (p.Arg324Ser) n.1004G>T c.379G>T (p.Gly127Cys) c.868G>T (p.Gly290Cys) c.465G>T (p.Arg155Ser) c.214G>T (p.Gly72Cys) c.319+1973G>T c.1098G>T (p.Arg366Ser) | gnomAD v4 |
| 11 | g.71435839C>G | CA381702591 | DHCR7 | c.964G>C (p.Gly322Arg) c.790G>C (p.Gly264Arg) c.1015G>C (p.Gly339Arg) c.1000G>C (p.Gly334Arg) c.972G>C (p.Arg324Ser) n.1004G>C c.379G>C (p.Gly127Arg) c.868G>C (p.Gly290Arg) c.465G>C (p.Arg155Ser) c.214G>C (p.Gly72Arg) c.319+1973G>C c.1098G>C (p.Arg366Ser) | |
| 11 | g.71435839C>T | CA381702592 | DHCR7 | c.964G>A (p.Gly322Ser) c.790G>A (p.Gly264Ser) c.1015G>A (p.Gly339Ser) c.1000G>A (p.Gly334Ser) c.972G>A (p.Arg324=) n.1004G>A c.379G>A (p.Gly127Ser) c.868G>A (p.Gly290Ser) c.465G>A (p.Arg155=) c.214G>A (p.Gly72Ser) c.319+1973G>A c.1098G>A (p.Arg366=) | |
| 11 | g.71435840C>A | CA6162346 | DHCR7 | c.964-1G>T (n.964-1G>T) c.790-1G>T (n.790-1G>T) c.1015-1G>T (n.1015-1G>T) c.1000-1G>T (n.1000-1G>T) c.972-1G>T (n.972-1G>T) n.1004-1G>T c.379-1G>T (n.379-1G>T) c.868-1G>T (n.868-1G>T) c.464G>T (p.Arg155Met) c.214-1G>T (n.214-1G>T) c.319+1972G>T c.1097G>T (p.Arg366Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435840C= | CA1981487051 | DHCR7 | c.964-1G= (n.964-1G=) c.790-1G= (n.790-1G=) c.1015-1G= (n.1015-1G=) c.1000-1G= (n.1000-1G=) c.972-1G= (n.972-1G=) n.1004-1G= c.379-1G= (n.379-1G=) c.868-1G= (n.868-1G=) c.464G= (p.Arg155=) c.214-1G= (n.214-1G=) c.319+1972G= c.1097G= (p.Arg366=) | |
| 11 | g.71435840C>G | CA090917 | DHCR7 | c.964-1G>C (n.964-1G>C) c.790-1G>C (n.790-1G>C) c.1015-1G>C (n.1015-1G>C) c.1000-1G>C (n.1000-1G>C) c.972-1G>C (n.972-1G>C) n.1004-1G>C c.379-1G>C (n.379-1G>C) c.868-1G>C (n.868-1G>C) c.464G>C (p.Arg155Thr) c.214-1G>C (n.214-1G>C) c.319+1972G>C c.1097G>C (p.Arg366Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435840C>T | CA381702593 | DHCR7 | c.964-1G>A (n.964-1G>A) c.790-1G>A (n.790-1G>A) c.1015-1G>A (n.1015-1G>A) c.1000-1G>A (n.1000-1G>A) c.972-1G>A (n.972-1G>A) n.1004-1G>A c.379-1G>A (n.379-1G>A) c.868-1G>A (n.868-1G>A) c.464G>A (p.Arg155Lys) c.214-1G>A (n.214-1G>A) c.319+1972G>A c.1097G>A (p.Arg366Lys) | |
| 11 | g.71435841T>A | CA381702594 | DHCR7 | c.964-2A>T (n.964-2A>T) c.790-2A>T (n.790-2A>T) c.1015-2A>T (n.1015-2A>T) c.1000-2A>T (n.1000-2A>T) c.972-2A>T (n.972-2A>T) n.1004-2A>T c.379-2A>T (n.379-2A>T) c.868-2A>T (n.868-2A>T) c.463A>T (p.Arg155Trp) c.214-2A>T (n.214-2A>T) c.319+1971A>T c.1096A>T (p.Arg366Trp) | |
| 11 | g.71435841T>C | CA381702595 | DHCR7 | c.964-2A>G (n.964-2A>G) c.790-2A>G (n.790-2A>G) c.1015-2A>G (n.1015-2A>G) c.1000-2A>G (n.1000-2A>G) c.972-2A>G (n.972-2A>G) n.1004-2A>G c.379-2A>G (n.379-2A>G) c.868-2A>G (n.868-2A>G) c.463A>G (p.Arg155Gly) c.214-2A>G (n.214-2A>G) c.319+1971A>G c.1096A>G (p.Arg366Gly) |