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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.100734214T>A | CA390985809 | DLK1 | c.470T>A (p.Leu157Gln) | |
| 14 | g.100734214T>C | CA390985811 | DLK1 | c.470T>C (p.Leu157Pro) | gnomAD v4 |
| 14 | g.100734214T>G | CA390985813 | DLK1 | c.470T>G (p.Leu157Arg) | |
| 14 | g.100734215G>A | CA488179163 | DLK1 | c.471G>A (p.Leu157=) | gnomAD v4 COSMIC |
| 14 | g.100734215G>C | CA488179164 | DLK1 | c.471G>C (p.Leu157=) | |
| 14 | g.100734215G>T | CA488179165 | DLK1 | c.471G>T (p.Leu157=) | gnomAD v4 |
| 14 | g.100734216T>A | CA390985814 | DLK1 | c.472T>A (p.Cys158Ser) | |
| 14 | g.100734216T>C | CA390985815 | DLK1 | c.472T>C (p.Cys158Arg) | |
| 14 | g.100734216T>G | CA390985817 | DLK1 | c.472T>G (p.Cys158Gly) | gnomAD v4 |
| 14 | g.100734217G>A | CA390985818 | DLK1 | c.473G>A (p.Cys158Tyr) | |
| 14 | g.100734217G>C | CA390985820 | DLK1 | c.473G>C (p.Cys158Ser) | |
| 14 | g.100734217G= | CA2159001010 | DLK1 | c.473G= (p.Cys158=) | |
| 14 | g.100734217G>T | CA390985822 | DLK1 | c.473G>T (p.Cys158Phe) | |
| 14 | g.100734218C>A | CA390985825 | DLK1 | c.474C>A (p.Cys158Ter) | |
| 14 | g.100734218C= | CA2159001011 | DLK1 | c.474C= (p.Cys158=) | |
| 14 | g.100734218C>G | CA390985827 | DLK1 | c.474C>G (p.Cys158Trp) | dbSNP |
| 14 | g.100734218C>T | CA7346641 | DLK1 | c.474C>T (p.Cys158=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100734223dup | CA7346640 | DLK1 | c.479dup (p.Gly161TrpfsTer27) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100734222_100734223dup | CA2575625453 | DLK1 | c.478_479dup (p.Gly161LeufsTer?) | |
| 14 | g.100734221_100734223dup | CA2626542650 | DLK1 | c.477_479dup (p.Pro160_Gly161insPro) | gnomAD v4 |
| 14 | g.100734223del | CA616579403 | DLK1 | c.479del (p.Pro160LeufsTer?) | gnomAD v2 COSMIC |
| 14 | g.100734219C>A | CA390985832 | DLK1 | c.475C>A (p.Pro159Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100734219C= | CA2159001012 | DLK1 | c.475C= (p.Pro159=) | |
| 14 | g.100734219C>G | CA7346642 | DLK1 | c.475C>G (p.Pro159Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100734219C>T | CA390985831 | DLK1 | c.475C>T (p.Pro159Ser) | |
| 14 | g.100734220C>A | CA390985835 | DLK1 | c.476C>A (p.Pro159His) | |
| 14 | g.100734220C>G | CA390985837 | DLK1 | c.476C>G (p.Pro159Arg) | gnomAD v4 |
| 14 | g.100734220C>T | CA390985838 | DLK1 | c.476C>T (p.Pro159Leu) | |
| 14 | g.100734221C>A | CA488179166 | DLK1 | c.477C>A (p.Pro159=) | |
| 14 | g.100734221C>G | CA488179167 | DLK1 | c.477C>G (p.Pro159=) | |
| 14 | g.100734221C>T | CA488179168 | DLK1 | c.477C>T (p.Pro159=) | gnomAD v4 COSMIC |
| 14 | g.100734222C>A | CA7346644 | DLK1 | c.478C>A (p.Pro160Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100734222C= | CA2159001013 | DLK1 | c.478C= (p.Pro160=) | |
| 14 | g.100734222C>G | CA7346643 | DLK1 | c.478C>G (p.Pro160Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100734222C>T | CA390985841 | DLK1 | c.478C>T (p.Pro160Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100734223C>A | CA390985844 | DLK1 | c.479C>A (p.Pro160His) | |
| 14 | g.100734223C= | CA2159001014 | DLK1 | c.479C= (p.Pro160=) | |
| 14 | g.100734223C>G | CA390985843 | DLK1 | c.479C>G (p.Pro160Arg) | |
| 14 | g.100734223C>T | CA390985842 | DLK1 | c.479C>T (p.Pro160Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100734224del | CA2626542651 | DLK1 | c.480del (p.Gly161AlafsTer?) | gnomAD v4 |
| 14 | g.100734224T>A | CA488179169 | DLK1 | c.480T>A (p.Pro160=) | |
| 14 | g.100734224T>C | CA488179171 | DLK1 | c.480T>C (p.Pro160=) | |
| 14 | g.100734224T>G | CA488179170 | DLK1 | c.480T>G (p.Pro160=) | |
| 14 | g.100734225G>A | CA390985846 | DLK1 | c.481G>A (p.Gly161Ser) | |
| 14 | g.100734225G>C | CA390985848 | DLK1 | c.481G>C (p.Gly161Arg) | |
| 14 | g.100734225G>T | CA390985850 | DLK1 | c.481G>T (p.Gly161Cys) | |
| 14 | g.100734226G>A | CA390985851 | DLK1 | c.482G>A (p.Gly161Asp) | |
| 14 | g.100734226G>C | CA390985853 | DLK1 | c.482G>C (p.Gly161Ala) | |
| 14 | g.100734226G>T | CA390985855 | DLK1 | c.482G>T (p.Gly161Val) | |
| 14 | g.100734227C>A | CA488179172 | DLK1 | c.483C>A (p.Gly161=) | |
| 14 | g.100734227C>G | CA488179173 | DLK1 | c.483C>G (p.Gly161=) | COSMIC |
| 14 | g.100734227C>T | CA488179174 | DLK1 | c.483C>T (p.Gly161=) | COSMIC |
| 14 | g.100734228T>A | CA390985857 | DLK1 | c.484T>A (p.Phe162Ile) | |
| 14 | g.100734228T>C | CA390985861 | DLK1 | c.484T>C (p.Phe162Leu) | |
| 14 | g.100734228T>G | CA390985859 | DLK1 | c.484T>G (p.Phe162Val) | gnomAD v4 |
| 14 | g.100734229T>A | CA390985864 | DLK1 | c.485T>A (p.Phe162Tyr) | |
| 14 | g.100734229T>C | CA390985865 | DLK1 | c.485T>C (p.Phe162Ser) | |
| 14 | g.100734229T>G | CA390985867 | DLK1 | c.485T>G (p.Phe162Cys) | |
| 14 | g.100734230C>A | CA390985869 | DLK1 | c.486C>A (p.Phe162Leu) | |
| 14 | g.100734230C>G | CA390985871 | DLK1 | c.486C>G (p.Phe162Leu) | |
| 14 | g.100734230C>T | CA488179175 | DLK1 | c.486C>T (p.Phe162=) | |
| 14 | g.100734231T>A | CA390985873 | DLK1 | c.487T>A (p.Ser163Thr) | |
| 14 | g.100734231T>C | CA390985876 | DLK1 | c.487T>C (p.Ser163Pro) | |
| 14 | g.100734231T>G | CA390985877 | DLK1 | c.487T>G (p.Ser163Ala) | |
| 14 | g.100734232C>A | CA390985880 | DLK1 | c.488C>A (p.Ser163Ter) | COSMIC |
| 14 | g.100734232C= | CA2159001015 | DLK1 | c.488C= (p.Ser163=) | |
| 14 | g.100734232C>G | CA390985882 | DLK1 | c.488C>G (p.Ser163Ter) | |
| 14 | g.100734232C>T | CA390985885 | DLK1 | c.488C>T (p.Ser163Leu) | dbSNP gnomAD v4 |
| 14 | g.100734233A>C | CA488179176 | DLK1 | c.489A>C (p.Ser163=) | |
| 14 | g.100734233A>G | CA488179177 | DLK1 | c.489A>G (p.Ser163=) | |
| 14 | g.100734233A>T | CA488179178 | DLK1 | c.489A>T (p.Ser163=) | |
| 14 | g.100734234G>A | CA390985891 | DLK1 | c.490G>A (p.Gly164Ser) | |
| 14 | g.100734234G>C | CA390985888 | DLK1 | c.490G>C (p.Gly164Arg) | |
| 14 | g.100734234G>T | CA390985890 | DLK1 | c.490G>T (p.Gly164Cys) | |
| 14 | g.100734235G>A | CA390985894 | DLK1 | c.491G>A (p.Gly164Asp) | |
| 14 | g.100734235G>C | CA390985897 | DLK1 | c.491G>C (p.Gly164Ala) | |
| 14 | g.100734235G>T | CA390985896 | DLK1 | c.491G>T (p.Gly164Val) | COSMIC |
| 14 | g.100734236C>A | CA488179179 | DLK1 | c.492C>A (p.Gly164=) | |
| 14 | g.100734236C>G | CA488179180 | DLK1 | c.492C>G (p.Gly164=) | |
| 14 | g.100734236C>T | CA488179181 | DLK1 | c.492C>T (p.Gly164=) | gnomAD v4 |
| 14 | g.100734237A>C | CA390985898 | DLK1 | c.493A>C (p.Asn165His) | |
| 14 | g.100734237A>G | CA390985900 | DLK1 | c.493A>G (p.Asn165Asp) | |
| 14 | g.100734237A>T | CA390985902 | DLK1 | c.493A>T (p.Asn165Tyr) | |
| 14 | g.100734238A= | CA2159001016 | DLK1 | c.494A= (p.Asn165=) | |
| 14 | g.100734238A>C | CA390985904 | DLK1 | c.494A>C (p.Asn165Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100734238A>G | CA266886245 | DLK1 | c.494A>G (p.Asn165Ser) | dbSNP gnomAD v4 |
| 14 | g.100734238A>T | CA390985906 | DLK1 | c.494A>T (p.Asn165Ile) | |
| 14 | g.100734239T>A | CA390985908 | DLK1 | c.495T>A (p.Asn165Lys) | |
| 14 | g.100734239T>C | CA7346645 | DLK1 | c.495T>C (p.Asn165=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100734239T>G | CA390985911 | DLK1 | c.495T>G (p.Asn165Lys) | dbSNP |
| 14 | g.100734239T= | CA2159001017 | DLK1 | c.495T= (p.Asn165=) | |
| 14 | g.100734240T>A | CA390985913 | DLK1 | c.496T>A (p.Phe166Ile) | |
| 14 | g.100734240T>C | CA390985915 | DLK1 | c.496T>C (p.Phe166Leu) | |
| 14 | g.100734240T>G | CA390985916 | DLK1 | c.496T>G (p.Phe166Val) | |
| 14 | g.100734241T>A | CA390985922 | DLK1 | c.497T>A (p.Phe166Tyr) | |
| 14 | g.100734241T>C | CA390985919 | DLK1 | c.497T>C (p.Phe166Ser) | COSMIC |
| 14 | g.100734241T>G | CA390985920 | DLK1 | c.497T>G (p.Phe166Cys) | |
| 14 | g.100734242C>A | CA390985924 | DLK1 | c.498C>A (p.Phe166Leu) | |
| 14 | g.100734242C>G | CA390985926 | DLK1 | c.498C>G (p.Phe166Leu) | |
| 14 | g.100734242C>T | CA488179182 | DLK1 | c.498C>T (p.Phe166=) | |
| 14 | g.100734243T>A | CA390985928 | DLK1 | c.499T>A (p.Cys167Ser) | |
| 14 | g.100734243T>C | CA390985929 | DLK1 | c.499T>C (p.Cys167Arg) | |
| 14 | g.100734243T>G | CA390985931 | DLK1 | c.499T>G (p.Cys167Gly) | |
| 14 | g.100734244G>A | CA390985933 | DLK1 | c.500G>A (p.Cys167Tyr) | |
| 14 | g.100734244G>C | CA390985935 | DLK1 | c.500G>C (p.Cys167Ser) | |
| 14 | g.100734244G>T | CA390985937 | DLK1 | c.500G>T (p.Cys167Phe) | gnomAD v4 |
| 14 | g.100734245C>A | CA390985939 | DLK1 | c.501C>A (p.Cys167Ter) | |
| 14 | g.100734245C= | CA2159001018 | DLK1 | c.501C= (p.Cys167=) | |
| 14 | g.100734245C>G | CA390985940 | DLK1 | c.501C>G (p.Cys167Trp) | |
| 14 | g.100734245C>T | CA7346646 | DLK1 | c.501C>T (p.Cys167=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100734246G>A | CA7346647 | DLK1 | c.502G>A (p.Glu168Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100734246G>C | CA390985945 | DLK1 | c.502G>C (p.Glu168Gln) | |
| 14 | g.100734246G= | CA2159001019 | DLK1 | c.502G= (p.Glu168=) | |
| 14 | g.100734246G>T | CA390985944 | DLK1 | c.502G>T (p.Glu168Ter) | |
| 14 | g.100734247A>C | CA390985952 | DLK1 | c.503A>C (p.Glu168Ala) | |
| 14 | g.100734247A>G | CA390985948 | DLK1 | c.503A>G (p.Glu168Gly) | |
| 14 | g.100734247A>T | CA390985950 | DLK1 | c.503A>T (p.Glu168Val) | |
| 14 | g.100734248G>A | CA488179183 | DLK1 | c.504G>A (p.Glu168=) | |
| 14 | g.100734248G>C | CA390985954 | DLK1 | c.504G>C (p.Glu168Asp) | |
| 14 | g.100734248G>T | CA390985955 | DLK1 | c.504G>T (p.Glu168Asp) | |
| 14 | g.100734249A= | CA2159001020 | DLK1 | c.505A= (p.Ile169=) | |
| 14 | g.100734249A>C | CA390985959 | DLK1 | c.505A>C (p.Ile169Leu) | dbSNP gnomAD v4 |
| 14 | g.100734249A>G | CA390985961 | DLK1 | c.505A>G (p.Ile169Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100734249A>T | CA390985962 | DLK1 | c.505A>T (p.Ile169Phe) | |
| 14 | g.100734250T>A | CA390985965 | DLK1 | c.506T>A (p.Ile169Asn) | |
| 14 | g.100734250T>C | CA390985966 | DLK1 | c.506T>C (p.Ile169Thr) | |
| 14 | g.100734250T>G | CA390985967 | DLK1 | c.506T>G (p.Ile169Ser) | |
| 14 | g.100734251C>A | CA7346649 | DLK1 | c.507C>A (p.Ile169=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100734251C= | CA2159001021 | DLK1 | c.507C= (p.Ile169=) | |
| 14 | g.100734251C>G | CA390985972 | DLK1 | c.507C>G (p.Ile169Met) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100734251C>T | CA7346648 | DLK1 | c.507C>T (p.Ile169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100734252G>A | CA266886279 | DLK1 | c.508G>A (p.Val170Met) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100734252G>C | CA390985974 | DLK1 | c.508G>C (p.Val170Leu) | gnomAD v4 |
| 14 | g.100734252G= | CA2159001022 | DLK1 | c.508G= (p.Val170=) | |
| 14 | g.100734252G>T | CA390985977 | DLK1 | c.508G>T (p.Val170Leu) | gnomAD v4 |
| 14 | g.100734253T>A | CA390985980 | DLK1 | c.509T>A (p.Val170Glu) | |
| 14 | g.100734253T>C | CA390985981 | DLK1 | c.509T>C (p.Val170Ala) | |
| 14 | g.100734253T>G | CA390985983 | DLK1 | c.509T>G (p.Val170Gly) | |
| 14 | g.100734254G>A | CA488179187 | DLK1 | c.510G>A (p.Val170=) | gnomAD v4 |
| 14 | g.100734254G>C | CA488179188 | DLK1 | c.510G>C (p.Val170=) | |
| 14 | g.100734254G>T | CA488179189 | DLK1 | c.510G>T (p.Val170=) | |
| 14 | g.100734255G>A | CA390985984 | DLK1 | c.511G>A (p.Ala171Thr) | COSMIC |
| 14 | g.100734255G>C | CA390985985 | DLK1 | c.511G>C (p.Ala171Pro) | gnomAD v4 |
| 14 | g.100734255G>T | CA390985987 | DLK1 | c.511G>T (p.Ala171Ser) | COSMIC |
| 14 | g.100734256C>A | CA390985989 | DLK1 | c.512C>A (p.Ala171Asp) | |
| 14 | g.100734256C>G | CA390985991 | DLK1 | c.512C>G (p.Ala171Gly) | |
| 14 | g.100734256C>T | CA390985993 | DLK1 | c.512C>T (p.Ala171Val) | |
| 14 | g.100734257C>A | CA488179191 | DLK1 | c.513C>A (p.Ala171=) | |
| 14 | g.100734257C= | CA2159001023 | DLK1 | c.513C= (p.Ala171=) | |
| 14 | g.100734257C>G | CA488179192 | DLK1 | c.513C>G (p.Ala171=) | |
| 14 | g.100734257C>T | CA488179193 | DLK1 | c.513C>T (p.Ala171=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100734258A= | CA2159001024 | DLK1 | c.514A= (p.Asn172=) | |
| 14 | g.100734258A>C | CA390985995 | DLK1 | c.514A>C (p.Asn172His) | |
| 14 | g.100734258A>G | CA7346650 | DLK1 | c.514A>G (p.Asn172Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100734258A>T | CA390985997 | DLK1 | c.514A>T (p.Asn172Tyr) | |
| 14 | g.100734259A= | CA2159001025 | DLK1 | c.515A= (p.Asn172=) | |
| 14 | g.100734259A>C | CA390986004 | DLK1 | c.515A>C (p.Asn172Thr) | |
| 14 | g.100734259A>G | CA390986002 | DLK1 | c.515A>G (p.Asn172Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100734259A>T | CA390986001 | DLK1 | c.515A>T (p.Asn172Ile) | |
| 14 | g.100734260C>A | CA390986006 | DLK1 | c.516C>A (p.Asn172Lys) | |
| 14 | g.100734260C= | CA2159001026 | DLK1 | c.516C= (p.Asn172=) | |
| 14 | g.100734260C>G | CA390986007 | DLK1 | c.516C>G (p.Asn172Lys) | gnomAD v4 |
| 14 | g.100734260C>T | CA488179195 | DLK1 | c.516C>T (p.Asn172=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100734261A>C | CA390986009 | DLK1 | c.517A>C (p.Ser173Arg) | |
| 14 | g.100734261A>G | CA390986013 | DLK1 | c.517A>G (p.Ser173Gly) | |
| 14 | g.100734261A>T | CA390986011 | DLK1 | c.517A>T (p.Ser173Cys) | |
| 14 | g.100734262G>A | CA390986015 | DLK1 | c.518G>A (p.Ser173Asn) | |
| 14 | g.100734262G>C | CA390986016 | DLK1 | c.518G>C (p.Ser173Thr) | |
| 14 | g.100734262G>T | CA390986018 | DLK1 | c.518G>T (p.Ser173Ile) | |
| 14 | g.100734263C>A | CA390986021 | DLK1 | c.519C>A (p.Ser173Arg) | |
| 14 | g.100734263C>G | CA390986023 | DLK1 | c.519C>G (p.Ser173Arg) | |
| 14 | g.100734263C>T | CA488179198 | DLK1 | c.519C>T (p.Ser173=) | |
| 14 | g.100734264T>A | CA390986025 | DLK1 | c.520T>A (p.Cys174Ser) | |
| 14 | g.100734264T>C | CA390986027 | DLK1 | c.520T>C (p.Cys174Arg) | gnomAD v4 |
| 14 | g.100734264T>G | CA390986029 | DLK1 | c.520T>G (p.Cys174Gly) | |
| 14 | g.100734265G>A | CA390986031 | DLK1 | c.521G>A (p.Cys174Tyr) | |
| 14 | g.100734265G>C | CA390986033 | DLK1 | c.521G>C (p.Cys174Ser) | |
| 14 | g.100734265G>T | CA390986035 | DLK1 | c.521G>T (p.Cys174Phe) | |
| 14 | g.100734266C>A | CA390986037 | DLK1 | c.522C>A (p.Cys174Ter) | COSMIC |
| 14 | g.100734266C>G | CA390986038 | DLK1 | c.522C>G (p.Cys174Trp) | |
| 14 | g.100734266C>T | CA488179202 | DLK1 | c.522C>T (p.Cys174=) | |
| 14 | g.100734267A= | CA2159001027 | DLK1 | c.523A= (p.Thr175=) | |
| 14 | g.100734267A>C | CA390986041 | DLK1 | c.523A>C (p.Thr175Pro) | |
| 14 | g.100734267A>G | CA390986045 | DLK1 | c.523A>G (p.Thr175Ala) | |
| 14 | g.100734267A>T | CA390986043 | DLK1 | c.523A>T (p.Thr175Ser) | |
| 14 | g.100734268C>A | CA390986047 | DLK1 | c.524C>A (p.Thr175Asn) | |
| 14 | g.100734268C= | CA2159001028 | DLK1 | c.524C= (p.Thr175=) | |
| 14 | g.100734268C>G | CA390986048 | DLK1 | c.524C>G (p.Thr175Ser) | |
| 14 | g.100734268C>T | CA266886292 | DLK1 | c.524C>T (p.Thr175Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100734272dup | CA616579416 | DLK1 | c.528dup (p.Asn177GlnfsTer11) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100734269C>A | CA488179203 | DLK1 | c.525C>A (p.Thr175=) | |
| 14 | g.100734269C>G | CA488179204 | DLK1 | c.525C>G (p.Thr175=) | |
| 14 | g.100734269C>T | CA488179205 | DLK1 | c.525C>T (p.Thr175=) | |
| 14 | g.100734270C>A | CA390986051 | DLK1 | c.526C>A (p.Pro176Thr) | |
| 14 | g.100734270C= | CA2159001029 | DLK1 | c.526C= (p.Pro176=) | |
| 14 | g.100734270C>G | CA390986053 | DLK1 | c.526C>G (p.Pro176Ala) | |
| 14 | g.100734270C>T | CA7346651 | DLK1 | c.526C>T (p.Pro176Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.100734271C>A | CA390986057 | DLK1 | c.527C>A (p.Pro176His) | ClinVar |
| 14 | g.100734271C>G | CA390986059 | DLK1 | c.527C>G (p.Pro176Arg) | |
| 14 | g.100734271C>T | CA390986061 | DLK1 | c.527C>T (p.Pro176Leu) | |
| 14 | g.100734272C>A | CA488179208 | DLK1 | c.528C>A (p.Pro176=) | gnomAD v4 |
| 14 | g.100734272C= | CA2159001030 | DLK1 | c.528C= (p.Pro176=) | |
| 14 | g.100734272C>G | CA488179206 | DLK1 | c.528C>G (p.Pro176=) | gnomAD v4 |
| 14 | g.100734272C>T | CA488179207 | DLK1 | c.528C>T (p.Pro176=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100734273A>C | CA390986066 | DLK1 | c.529A>C (p.Asn177His) | |
| 14 | g.100734273A>G | CA390986065 | DLK1 | c.529A>G (p.Asn177Asp) | |
| 14 | g.100734273A>T | CA390986063 | DLK1 | c.529A>T (p.Asn177Tyr) | |
| 14 | g.100734274A>C | CA390986068 | DLK1 | c.530A>C (p.Asn177Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100734274A>G | CA390986070 | DLK1 | c.530A>G (p.Asn177Ser) | gnomAD v4 |
| 14 | g.100734274A>T | CA390986071 | DLK1 | c.530A>T (p.Asn177Ile) | gnomAD v4 |
| 14 | g.100734275C>A | CA390986074 | DLK1 | c.531C>A (p.Asn177Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100734275C= | CA2159001031 | DLK1 | c.531C= (p.Asn177=) | |
| 14 | g.100734275C>G | CA390986076 | DLK1 | c.531C>G (p.Asn177Lys) | |
| 14 | g.100734275C>T | CA488179211 | DLK1 | c.531C>T (p.Asn177=) | |
| 14 | g.100734275_100734276insAGGGA | CA2159001032 | DLK1 | c.531_532insAGGGA (p.Pro178ArgfsTer?) | dbSNP |
| 14 | g.100734276C>A | CA390986082 | DLK1 | c.532C>A (p.Pro178Thr) | COSMIC |
| 14 | g.100734276C= | CA2159001033 | DLK1 | c.532C= (p.Pro178=) | |
| 14 | g.100734276C>G | CA390986080 | DLK1 | c.532C>G (p.Pro178Ala) | |
| 14 | g.100734276C>T | CA390986078 | DLK1 | c.532C>T (p.Pro178Ser) | |
| 14 | g.100734276_100734277insATAGTAAACGGCCTCAGGGGCTGGGCTACAA | CA2159001034 | DLK1 | c.532_533insATAGTAAACGGCCTCAGGGGCTGGGCTACAA (p.Pro178HisfsTer20) | dbSNP |
| 14 | g.100734277C>A | CA390986084 | DLK1 | c.533C>A (p.Pro178Gln) | |
| 14 | g.100734277C>G | CA390986086 | DLK1 | c.533C>G (p.Pro178Arg) | |
| 14 | g.100734277C>T | CA390986088 | DLK1 | c.533C>T (p.Pro178Leu) | |
| 14 | g.100734278A= | CA2159001035 | DLK1 | c.534A= (p.Pro178=) | |
| 14 | g.100734278A>C | CA488179216 | DLK1 | c.534A>C (p.Pro178=) | |
| 14 | g.100734278A>G | CA488179214 | DLK1 | c.534A>G (p.Pro178=) | |
| 14 | g.100734278A>T | CA488179215 | DLK1 | c.534A>T (p.Pro178=) | dbSNP |
| 14 | g.100734279T>A | CA390986089 | DLK1 | c.535T>A (p.Cys179Ser) | gnomAD v4 |
| 14 | g.100734279T>C | CA390986091 | DLK1 | c.535T>C (p.Cys179Arg) | dbSNP gnomAD v4 |
| 14 | g.100734279T>G | CA390986093 | DLK1 | c.535T>G (p.Cys179Gly) | |
| 14 | g.100734279T= | CA2159001036 | DLK1 | c.535T= (p.Cys179=) | |
| 14 | g.100734280G>A | CA390986095 | DLK1 | c.536G>A (p.Cys179Tyr) | |
| 14 | g.100734280G>C | CA390986099 | DLK1 | c.536G>C (p.Cys179Ser) | |
| 14 | g.100734280G= | CA2159001037 | DLK1 | c.536G= (p.Cys179=) | |
| 14 | g.100734280G>T | CA7346652 | DLK1 | c.536G>T (p.Cys179Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100734281C>A | CA390986102 | DLK1 | c.537C>A (p.Cys179Ter) | |
| 14 | g.100734281C= | CA2159001038 | DLK1 | c.537C= (p.Cys179=) | |
| 14 | g.100734281C>G | CA390986103 | DLK1 | c.537C>G (p.Cys179Trp) | |
| 14 | g.100734281C>T | CA7346653 | DLK1 | c.537C>T (p.Cys179=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100734282G>A | CA390986107 | DLK1 | c.538G>A (p.Glu180Lys) | dbSNP gnomAD v4 COSMIC |
| 14 | g.100734282G>C | CA390986109 | DLK1 | c.538G>C (p.Glu180Gln) | |
| 14 | g.100734282G= | CA2159001039 | DLK1 | c.538G= (p.Glu180=) | |
| 14 | g.100734282G>T | CA390986110 | DLK1 | c.538G>T (p.Glu180Ter) | |
| 14 | g.100734283A>C | CA390986112 | DLK1 | c.539A>C (p.Glu180Ala) | |
| 14 | g.100734283A>G | CA390986114 | DLK1 | c.539A>G (p.Glu180Gly) | |
| 14 | g.100734283A>T | CA390986116 | DLK1 | c.539A>T (p.Glu180Val) | |
| 14 | g.100734284G>A | CA488179220 | DLK1 | c.540G>A (p.Glu180=) | |
| 14 | g.100734284G>C | CA390986117 | DLK1 | c.540G>C (p.Glu180Asp) | |
| 14 | g.100734284G= | CA2159001040 | DLK1 | c.540G= (p.Glu180=) | |
| 14 | g.100734284G>T | CA390986119 | DLK1 | c.540G>T (p.Glu180Asp) | dbSNP gnomAD v4 |
| 14 | g.100734285A>C | CA390986125 | DLK1 | c.541A>C (p.Asn181His) | |
| 14 | g.100734285A>G | CA390986123 | DLK1 | c.541A>G (p.Asn181Asp) | |
| 14 | g.100734285A>T | CA390986121 | DLK1 | c.541A>T (p.Asn181Tyr) | |
| 14 | g.100734286A>C | CA390986129 | DLK1 | c.542A>C (p.Asn181Thr) | |
| 14 | g.100734286A>G | CA390986127 | DLK1 | c.542A>G (p.Asn181Ser) | |
| 14 | g.100734286A>T | CA390986128 | DLK1 | c.542A>T (p.Asn181Ile) | |
| 14 | g.100734287C>A | CA390986131 | DLK1 | c.543C>A (p.Asn181Lys) | |
| 14 | g.100734287C= | CA2159001041 | DLK1 | c.543C= (p.Asn181=) | |
| 14 | g.100734287C>G | CA390986132 | DLK1 | c.543C>G (p.Asn181Lys) | gnomAD v4 |
| 14 | g.100734287C>T | CA7346654 | DLK1 | c.543C>T (p.Asn181=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100734288G>A | CA7346655 | DLK1 | c.544G>A (p.Asp182Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100734288G>C | CA390986137 | DLK1 | c.544G>C (p.Asp182His) | |
| 14 | g.100734288G= | CA2159001042 | DLK1 | c.544G= (p.Asp182=) | |
| 14 | g.100734288G>T | CA390986135 | DLK1 | c.544G>T (p.Asp182Tyr) | gnomAD v4 |
| 14 | g.100734289A>C | CA390986141 | DLK1 | c.545A>C (p.Asp182Ala) | |
| 14 | g.100734289A>G | CA390986143 | DLK1 | c.545A>G (p.Asp182Gly) | gnomAD v4 |
| 14 | g.100734289A>T | CA390986144 | DLK1 | c.545A>T (p.Asp182Val) | |
| 14 | g.100734290C>A | CA390986146 | DLK1 | c.546C>A (p.Asp182Glu) | dbSNP gnomAD v4 |
| 14 | g.100734290C= | CA2159001043 | DLK1 | c.546C= (p.Asp182=) | |
| 14 | g.100734290C>G | CA390986148 | DLK1 | c.546C>G (p.Asp182Glu) | |
| 14 | g.100734290C>T | CA7346656 | DLK1 | c.546C>T (p.Asp182=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100734291G>A | CA7346657 | DLK1 | c.547G>A (p.Gly183Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.100734291G>C | CA390986150 | DLK1 | c.547G>C (p.Gly183Arg) | |
| 14 | g.100734291G= | CA2159001044 | DLK1 | c.547G= (p.Gly183=) | |
| 14 | g.100734291G>T | CA390986152 | DLK1 | c.547G>T (p.Gly183Cys) | gnomAD v4 |
| 14 | g.100734292G>A | CA390986155 | DLK1 | c.548G>A (p.Gly183Asp) | |
| 14 | g.100734292G>C | CA7346658 | DLK1 | c.548G>C (p.Gly183Ala) | dbSNP ExAC gnomAD v2 |
| 14 | g.100734292G= | CA2159001045 | DLK1 | c.548G= (p.Gly183=) | |
| 14 | g.100734292G>T | CA390986158 | DLK1 | c.548G>T (p.Gly183Val) | |
| 14 | g.100734293C>A | CA488179225 | DLK1 | c.549C>A (p.Gly183=) | |
| 14 | g.100734293C= | CA2159001046 | DLK1 | c.549C= (p.Gly183=) | |
| 14 | g.100734293C>G | CA488179226 | DLK1 | c.549C>G (p.Gly183=) | |
| 14 | g.100734293C>T | CA7346659 | DLK1 | c.549C>T (p.Gly183=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100734294G>A | CA7346660 | DLK1 | c.550G>A (p.Val184Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.100734294G>C | CA390986162 | DLK1 | c.550G>C (p.Val184Leu) | |
| 14 | g.100734294G= | CA2159001047 | DLK1 | c.550G= (p.Val184=) | |
| 14 | g.100734294G>T | CA390986164 | DLK1 | c.550G>T (p.Val184Phe) | |
| 14 | g.100734295T>A | CA390986165 | DLK1 | c.551T>A (p.Val184Asp) | dbSNP COSMIC |
| 14 | g.100734295T>C | CA390986166 | DLK1 | c.551T>C (p.Val184Ala) | |
| 14 | g.100734295T>G | CA390986168 | DLK1 | c.551T>G (p.Val184Gly) | |
| 14 | g.100734295T= | CA2159001048 | DLK1 | c.551T= (p.Val184=) | |
| 14 | g.100734296C>A | CA488179227 | DLK1 | c.552C>A (p.Val184=) | |
| 14 | g.100734296C>G | CA488179228 | DLK1 | c.552C>G (p.Val184=) | |
| 14 | g.100734296C>T | CA488179229 | DLK1 | c.552C>T (p.Val184=) | |
| 14 | g.100734297T>A | CA390986170 | DLK1 | c.553T>A (p.Cys185Ser) | |
| 14 | g.100734297T>C | CA390986172 | DLK1 | c.553T>C (p.Cys185Arg) | |
| 14 | g.100734297T>G | CA390986174 | DLK1 | c.553T>G (p.Cys185Gly) | |
| 14 | g.100734298G>A | CA390986176 | DLK1 | c.554G>A (p.Cys185Tyr) | gnomAD v4 |
| 14 | g.100734298G>C | CA390986180 | DLK1 | c.554G>C (p.Cys185Ser) | |
| 14 | g.100734298G>T | CA390986178 | DLK1 | c.554G>T (p.Cys185Phe) | gnomAD v4 |
| 14 | g.100734299C>A | CA390986182 | DLK1 | c.555C>A (p.Cys185Ter) | |
| 14 | g.100734299C>G | CA390986184 | DLK1 | c.555C>G (p.Cys185Trp) | |
| 14 | g.100734299C>T | CA488179230 | DLK1 | c.555C>T (p.Cys185=) | |
| 14 | g.100734300A= | CA2159001049 | DLK1 | c.556A= (p.Thr186=) | |
| 14 | g.100734300A>C | CA390986187 | DLK1 | c.556A>C (p.Thr186Pro) | |
| 14 | g.100734300A>G | CA266886380 | DLK1 | c.556A>G (p.Thr186Ala) | dbSNP gnomAD v4 |
| 14 | g.100734300A>T | CA390986189 | DLK1 | c.556A>T (p.Thr186Ser) | |
| 14 | g.100734301C>A | CA390986191 | DLK1 | c.557C>A (p.Thr186Asn) | dbSNP |
| 14 | g.100734301C= | CA2159001050 | DLK1 | c.557C= (p.Thr186=) | |
| 14 | g.100734301C>G | CA390986192 | DLK1 | c.557C>G (p.Thr186Ser) | |
| 14 | g.100734301C>T | CA390986193 | DLK1 | c.557C>T (p.Thr186Ile) | dbSNP gnomAD v4 |
| 14 | g.100734302T>A | CA488179232 | DLK1 | c.558T>A (p.Thr186=) | |
| 14 | g.100734302T>C | CA488179234 | DLK1 | c.558T>C (p.Thr186=) | dbSNP gnomAD v2 |
| 14 | g.100734302T>G | CA488179235 | DLK1 | c.558T>G (p.Thr186=) | |
| 14 | g.100734302T= | CA2159001051 | DLK1 | c.558T= (p.Thr186=) | |
| 14 | g.100734303G>A | CA390986194 | DLK1 | c.559G>A (p.Asp187Asn) | gnomAD v4 |
| 14 | g.100734303G>C | CA390986196 | DLK1 | c.559G>C (p.Asp187His) | |
| 14 | g.100734303G>T | CA390986198 | DLK1 | c.559G>T (p.Asp187Tyr) | |
| 14 | g.100734304A>C | CA390986205 | DLK1 | c.560A>C (p.Asp187Ala) | |
| 14 | g.100734304A>G | CA390986203 | DLK1 | c.560A>G (p.Asp187Gly) | |
| 14 | g.100734304A>T | CA390986201 | DLK1 | c.560A>T (p.Asp187Val) | |
| 14 | g.100734305C>A | CA390986207 | DLK1 | c.561C>A (p.Asp187Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100734305C= | CA2159001052 | DLK1 | c.561C= (p.Asp187=) | |
| 14 | g.100734305C>G | CA390986209 | DLK1 | c.561C>G (p.Asp187Glu) | |
| 14 | g.100734305C>T | CA488179236 | DLK1 | c.561C>T (p.Asp187=) | |
| 14 | g.100734306A>C | CA390986211 | DLK1 | c.562A>C (p.Ile188Leu) | |
| 14 | g.100734306A>G | CA390986213 | DLK1 | c.562A>G (p.Ile188Val) | gnomAD v4 |
| 14 | g.100734306A>T | CA390986215 | DLK1 | c.562A>T (p.Ile188Phe) | |
| 14 | g.100734307T>A | CA390986217 | DLK1 | c.563T>A (p.Ile188Asn) | |
| 14 | g.100734307T>C | CA7346661 | DLK1 | c.563T>C (p.Ile188Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100734307T>G | CA390986220 | DLK1 | c.563T>G (p.Ile188Ser) | |
| 14 | g.100734307T= | CA2159001053 | DLK1 | c.563T= (p.Ile188=) | |
| 14 | g.100734307_100734308insCG | CA2802828979 | DLK1 | c.563_564insCG (p.Gly189ValfsTer22) | |
| 14 | g.100734308T>A | CA488179237 | DLK1 | c.564T>A (p.Ile188=) | dbSNP |
| 14 | g.100734308T>C | CA7346662 | DLK1 | c.564T>C (p.Ile188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100734308T>G | CA390986223 | DLK1 | c.564T>G (p.Ile188Met) | dbSNP |
| 14 | g.100734308T= | CA2159001054 | DLK1 | c.564T= (p.Ile188=) | |
| 14 | g.100734309G>A | CA7346663 | DLK1 | c.565G>A (p.Gly189Arg) | ClinVar dbSNP ExAC gnomAD v4 |
| 14 | g.100734309G>C | CA390986225 | DLK1 | c.565G>C (p.Gly189Arg) | |
| 14 | g.100734309G= | CA2159001055 | DLK1 | c.565G= (p.Gly189=) | |
| 14 | g.100734309G>T | CA390986227 | DLK1 | c.565G>T (p.Gly189Trp) | |
| 14 | g.100734310G>A | CA390986237 | DLK1 | c.566G>A (p.Gly189Glu) | gnomAD v4 |
| 14 | g.100734310G>C | CA390986239 | DLK1 | c.566G>C (p.Gly189Ala) | |
| 14 | g.100734310G>T | CA390986230 | DLK1 | c.566G>T (p.Gly189Val) | |
| 14 | g.100734311G>A | CA488179239 | DLK1 | c.567G>A (p.Gly189=) | gnomAD v4 |
| 14 | g.100734311G>C | CA488179242 | DLK1 | c.567G>C (p.Gly189=) | |
| 14 | g.100734311G>T | CA488179240 | DLK1 | c.567G>T (p.Gly189=) | |
| 14 | g.100734312G>A | CA390986241 | DLK1 | c.568G>A (p.Gly190Ser) | gnomAD v4 |
| 14 | g.100734312G>C | CA390986242 | DLK1 | c.568G>C (p.Gly190Arg) | dbSNP |
| 14 | g.100734312G>T | CA390986244 | DLK1 | c.568G>T (p.Gly190Cys) | COSMIC |
| 14 | g.100734313G>A | CA390986245 | DLK1 | c.569G>A (p.Gly190Asp) | |
| 14 | g.100734313G>C | CA390986246 | DLK1 | c.569G>C (p.Gly190Ala) | |
| 14 | g.100734313G= | CA2159001056 | DLK1 | c.569G= (p.Gly190=) | |
| 14 | g.100734313G>T | CA7346664 | DLK1 | c.569G>T (p.Gly190Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100734314C>A | CA488179243 | DLK1 | c.570C>A (p.Gly190=) | |
| 14 | g.100734314C= | CA2159001057 | DLK1 | c.570C= (p.Gly190=) | |
| 14 | g.100734314C>G | CA488179244 | DLK1 | c.570C>G (p.Gly190=) | |
| 14 | g.100734314C>T | CA7346665 | DLK1 | c.570C>T (p.Gly190=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |