Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.75835454_75835460del | CA2695226983 | UNC13D | c.732_738del (p.Tyr246ArgfsTer?) c.1797_1803del (p.Tyr601ArgfsTer21) c.525_531del (p.Tyr177ArgfsTer?) n.2067_2073del c.1794_1800del (p.Tyr600ArgfsTer21) c.1188_1194del (p.Tyr398ArgfsTer21) | |
17 | g.75835460C>A | CA401092459 | UNC13D | c.732G>T (p.Lys244Asn) c.1797G>T (p.Lys599Asn) c.525G>T (p.Lys175Asn) n.2067G>T c.1794G>T (p.Lys598Asn) c.1188G>T (p.Lys396Asn) | |
17 | g.75835460C= | CA2275706503 | UNC13D | c.732G= (p.Lys244=) c.1797G= (p.Lys599=) c.525G= (p.Lys175=) n.2067G= c.1794G= (p.Lys598=) c.1188G= (p.Lys396=) | |
17 | g.75835460C>G | CA401092461 | UNC13D | c.732G>C (p.Lys244Asn) c.1797G>C (p.Lys599Asn) c.525G>C (p.Lys175Asn) n.2067G>C c.1794G>C (p.Lys598Asn) c.1188G>C (p.Lys396Asn) | |
17 | g.75835460C>T | CA502049716 | UNC13D | c.732G>A (p.Lys244=) c.1797G>A (p.Lys599=) c.525G>A (p.Lys175=) n.2067G>A c.1794G>A (p.Lys598=) c.1188G>A (p.Lys396=) | dbSNP |
17 | g.75835461T>A | CA401092466 | UNC13D | c.731A>T (p.Lys244Met) c.1796A>T (p.Lys599Met) c.524A>T (p.Lys175Met) n.2066A>T c.1793A>T (p.Lys598Met) c.1187A>T (p.Lys396Met) | |
17 | g.75835461T>C | CA401092470 | UNC13D | c.731A>G (p.Lys244Arg) c.1796A>G (p.Lys599Arg) c.524A>G (p.Lys175Arg) n.2066A>G c.1793A>G (p.Lys598Arg) c.1187A>G (p.Lys396Arg) | dbSNP |
17 | g.75835461T>G | CA401092473 | UNC13D | c.731A>C (p.Lys244Thr) c.1796A>C (p.Lys599Thr) c.524A>C (p.Lys175Thr) n.2066A>C c.1793A>C (p.Lys598Thr) c.1187A>C (p.Lys396Thr) | |
17 | g.75835461T= | CA2275706504 | UNC13D | c.731A= (p.Lys244=) c.1796A= (p.Lys599=) c.524A= (p.Lys175=) n.2066A= c.1793A= (p.Lys598=) c.1187A= (p.Lys396=) | |
17 | g.75835462T>A | CA401092484 | UNC13D | c.730A>T (p.Lys244Ter) c.1795A>T (p.Lys599Ter) c.523A>T (p.Lys175Ter) n.2065A>T c.1792A>T (p.Lys598Ter) c.1186A>T (p.Lys396Ter) | |
17 | g.75835462T>C | CA401092487 | UNC13D | c.730A>G (p.Lys244Glu) c.1795A>G (p.Lys599Glu) c.523A>G (p.Lys175Glu) n.2065A>G c.1792A>G (p.Lys598Glu) c.1186A>G (p.Lys396Glu) | |
17 | g.75835462T>G | CA401092478 | UNC13D | c.730A>C (p.Lys244Gln) c.1795A>C (p.Lys599Gln) c.523A>C (p.Lys175Gln) n.2065A>C c.1792A>C (p.Lys598Gln) c.1186A>C (p.Lys396Gln) | |
17 | g.75835463C>A | CA401092493 | UNC13D | c.729G>T (p.Gln243His) c.1794G>T (p.Gln598His) c.522G>T (p.Gln174His) n.2064G>T c.1791G>T (p.Gln597His) c.1185G>T (p.Gln395His) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.75835463C= | CA2275706505 | UNC13D | c.729G= (p.Gln243=) c.1794G= (p.Gln598=) c.522G= (p.Gln174=) n.2064G= c.1791G= (p.Gln597=) c.1185G= (p.Gln395=) | |
17 | g.75835463C>G | CA401092500 | UNC13D | c.729G>C (p.Gln243His) c.1794G>C (p.Gln598His) c.522G>C (p.Gln174His) n.2064G>C c.1791G>C (p.Gln597His) c.1185G>C (p.Gln395His) | |
17 | g.75835463C>T | CA502049717 | UNC13D | c.729G>A (p.Gln243=) c.1794G>A (p.Gln598=) c.522G>A (p.Gln174=) n.2064G>A c.1791G>A (p.Gln597=) c.1185G>A (p.Gln395=) | |
17 | g.75835464T>A | CA401092503 | UNC13D | c.728A>T (p.Gln243Leu) c.1793A>T (p.Gln598Leu) c.521A>T (p.Gln174Leu) n.2063A>T c.1790A>T (p.Gln597Leu) c.1184A>T (p.Gln395Leu) | |
17 | g.75835464T>C | CA401092508 | UNC13D | c.728A>G (p.Gln243Arg) c.1793A>G (p.Gln598Arg) c.521A>G (p.Gln174Arg) n.2063A>G c.1790A>G (p.Gln597Arg) c.1184A>G (p.Gln395Arg) | |
17 | g.75835464T>G | CA401092512 | UNC13D | c.728A>C (p.Gln243Pro) c.1793A>C (p.Gln598Pro) c.521A>C (p.Gln174Pro) n.2063A>C c.1790A>C (p.Gln597Pro) c.1184A>C (p.Gln395Pro) | |
17 | g.75835465G>A | CA401092518 | UNC13D | c.727C>T (p.Gln243Ter) c.1792C>T (p.Gln598Ter) c.520C>T (p.Gln174Ter) n.2062C>T c.1789C>T (p.Gln597Ter) c.1183C>T (p.Gln395Ter) | ClinVar dbSNP gnomAD v2 |
17 | g.75835465G>C | CA401092517 | UNC13D | c.727C>G (p.Gln243Glu) c.1792C>G (p.Gln598Glu) c.520C>G (p.Gln174Glu) n.2062C>G c.1789C>G (p.Gln597Glu) c.1183C>G (p.Gln395Glu) | |
17 | g.75835465G= | CA2275706506 | UNC13D | c.727C= (p.Gln243=) c.1792C= (p.Gln598=) c.520C= (p.Gln174=) n.2062C= c.1789C= (p.Gln597=) c.1183C= (p.Gln395=) | |
17 | g.75835465G>T | CA401092516 | UNC13D | c.727C>A (p.Gln243Lys) c.1792C>A (p.Gln598Lys) c.520C>A (p.Gln174Lys) n.2062C>A c.1789C>A (p.Gln597Lys) c.1183C>A (p.Gln395Lys) | |
17 | g.75835466C>A | CA502049722 | UNC13D | c.726G>T (p.Leu242=) c.1791G>T (p.Leu597=) c.519G>T (p.Leu173=) n.2061G>T c.1788G>T (p.Leu596=) c.1182G>T (p.Leu394=) | |
17 | g.75835466C= | CA2275706507 | UNC13D | c.726G= (p.Leu242=) c.1791G= (p.Leu597=) c.519G= (p.Leu173=) n.2061G= c.1788G= (p.Leu596=) c.1182G= (p.Leu394=) | |
17 | g.75835466C>G | CA294086715 | UNC13D | c.726G>C (p.Leu242=) c.1791G>C (p.Leu597=) c.519G>C (p.Leu173=) n.2061G>C c.1788G>C (p.Leu596=) c.1182G>C (p.Leu394=) | dbSNP |
17 | g.75835466C>T | CA502049723 | UNC13D | c.726G>A (p.Leu242=) c.1791G>A (p.Leu597=) c.519G>A (p.Leu173=) n.2061G>A c.1788G>A (p.Leu596=) c.1182G>A (p.Leu394=) | ClinVar gnomAD v4 |
17 | g.75835467A>C | CA401092523 | UNC13D | c.725T>G (p.Leu242Arg) c.1790T>G (p.Leu597Arg) c.518T>G (p.Leu173Arg) n.2060T>G c.1787T>G (p.Leu596Arg) c.1181T>G (p.Leu394Arg) | |
17 | g.75835467A>G | CA401092525 | UNC13D | c.725T>C (p.Leu242Pro) c.1790T>C (p.Leu597Pro) c.518T>C (p.Leu173Pro) n.2060T>C c.1787T>C (p.Leu596Pro) c.1181T>C (p.Leu394Pro) | |
17 | g.75835467A>T | CA401092527 | UNC13D | c.725T>A (p.Leu242Gln) c.1790T>A (p.Leu597Gln) c.518T>A (p.Leu173Gln) n.2060T>A c.1787T>A (p.Leu596Gln) c.1181T>A (p.Leu394Gln) | |
17 | g.75835468G>A | CA8772809 | UNC13D | c.724C>T (p.Leu242=) c.1789C>T (p.Leu597=) c.517C>T (p.Leu173=) n.2059C>T c.1786C>T (p.Leu596=) c.1180C>T (p.Leu394=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.75835468G>C | CA401092537 | UNC13D | c.724C>G (p.Leu242Val) c.1789C>G (p.Leu597Val) c.517C>G (p.Leu173Val) n.2059C>G c.1786C>G (p.Leu596Val) c.1180C>G (p.Leu394Val) | |
17 | g.75835468G= | CA2275706508 | UNC13D | c.724C= (p.Leu242=) c.1789C= (p.Leu597=) c.517C= (p.Leu173=) n.2059C= c.1786C= (p.Leu596=) c.1180C= (p.Leu394=) | |
17 | g.75835468G>T | CA401092540 | UNC13D | c.724C>A (p.Leu242Met) c.1789C>A (p.Leu597Met) c.517C>A (p.Leu173Met) n.2059C>A c.1786C>A (p.Leu596Met) c.1180C>A (p.Leu394Met) | |
17 | g.75835469C>A | CA401092546 | UNC13D | c.723G>T (p.Trp241Cys) c.1788G>T (p.Trp596Cys) c.516G>T (p.Trp172Cys) n.2058G>T c.1785G>T (p.Trp595Cys) c.1179G>T (p.Trp393Cys) | |
17 | g.75835469C>G | CA401092555 | UNC13D | c.723G>C (p.Trp241Cys) c.1788G>C (p.Trp596Cys) c.516G>C (p.Trp172Cys) n.2058G>C c.1785G>C (p.Trp595Cys) c.1179G>C (p.Trp393Cys) | |
17 | g.75835469C>T | CA401092550 | UNC13D | c.723G>A (p.Trp241Ter) c.1788G>A (p.Trp596Ter) c.516G>A (p.Trp172Ter) n.2058G>A c.1785G>A (p.Trp595Ter) c.1179G>A (p.Trp393Ter) | |
17 | g.75835470C>A | CA401092560 | UNC13D | c.722G>T (p.Trp241Leu) c.1787G>T (p.Trp596Leu) c.515G>T (p.Trp172Leu) n.2057G>T c.1784G>T (p.Trp595Leu) c.1178G>T (p.Trp393Leu) | |
17 | g.75835470C= | CA2275706509 | UNC13D | c.722G= (p.Trp241=) c.1787G= (p.Trp596=) c.515G= (p.Trp172=) n.2057G= c.1784G= (p.Trp595=) c.1178G= (p.Trp393=) | |
17 | g.75835470C>G | CA401092566 | UNC13D | c.722G>C (p.Trp241Ser) c.1787G>C (p.Trp596Ser) c.515G>C (p.Trp172Ser) n.2057G>C c.1784G>C (p.Trp595Ser) c.1178G>C (p.Trp393Ser) | |
17 | g.75835470C>T | CA401092571 | UNC13D | c.722G>A (p.Trp241Ter) c.1787G>A (p.Trp596Ter) c.515G>A (p.Trp172Ter) n.2057G>A c.1784G>A (p.Trp595Ter) c.1178G>A (p.Trp393Ter) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.75835471A>C | CA401092575 | UNC13D | c.721T>G (p.Trp241Gly) c.1786T>G (p.Trp596Gly) c.514T>G (p.Trp172Gly) n.2056T>G c.1783T>G (p.Trp595Gly) c.1177T>G (p.Trp393Gly) | |
17 | g.75835471A>G | CA401092579 | UNC13D | c.721T>C (p.Trp241Arg) c.1786T>C (p.Trp596Arg) c.514T>C (p.Trp172Arg) n.2056T>C c.1783T>C (p.Trp595Arg) c.1177T>C (p.Trp393Arg) | |
17 | g.75835471A>T | CA401092584 | UNC13D | c.721T>A (p.Trp241Arg) c.1786T>A (p.Trp596Arg) c.514T>A (p.Trp172Arg) n.2056T>A c.1783T>A (p.Trp595Arg) c.1177T>A (p.Trp393Arg) | |
17 | g.75835472G>A | CA502049733 | UNC13D | c.720C>T (p.Ser240=) c.1785C>T (p.Ser595=) c.513C>T (p.Ser171=) n.2055C>T c.1782C>T (p.Ser594=) c.1176C>T (p.Ser392=) | |
17 | g.75835472G>C | CA502049731 | UNC13D | c.720C>G (p.Ser240=) c.1785C>G (p.Ser595=) c.513C>G (p.Ser171=) n.2055C>G c.1782C>G (p.Ser594=) c.1176C>G (p.Ser392=) | |
17 | g.75835472G>T | CA502049732 | UNC13D | c.720C>A (p.Ser240=) c.1785C>A (p.Ser595=) c.513C>A (p.Ser171=) n.2055C>A c.1782C>A (p.Ser594=) c.1176C>A (p.Ser392=) | |
17 | g.75835473G>A | CA8772810 | UNC13D | c.719C>T (p.Ser240Phe) c.1784C>T (p.Ser595Phe) c.512C>T (p.Ser171Phe) n.2054C>T c.1781C>T (p.Ser594Phe) c.1175C>T (p.Ser392Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835473G>C | CA401092602 | UNC13D | c.719C>G (p.Ser240Cys) c.1784C>G (p.Ser595Cys) c.512C>G (p.Ser171Cys) n.2054C>G c.1781C>G (p.Ser594Cys) c.1175C>G (p.Ser392Cys) | |
17 | g.75835473G= | CA2275706510 | UNC13D | c.719C= (p.Ser240=) c.1784C= (p.Ser595=) c.512C= (p.Ser171=) n.2054C= c.1781C= (p.Ser594=) c.1175C= (p.Ser392=) | |
17 | g.75835473G>T | CA401092606 | UNC13D | c.719C>A (p.Ser240Tyr) c.1784C>A (p.Ser595Tyr) c.512C>A (p.Ser171Tyr) n.2054C>A c.1781C>A (p.Ser594Tyr) c.1175C>A (p.Ser392Tyr) | gnomAD v4 |
17 | g.75835474A>C | CA401092611 | UNC13D | c.718T>G (p.Ser240Ala) c.1783T>G (p.Ser595Ala) c.511T>G (p.Ser171Ala) n.2053T>G c.1780T>G (p.Ser594Ala) c.1174T>G (p.Ser392Ala) | |
17 | g.75835474A>G | CA401092624 | UNC13D | c.718T>C (p.Ser240Pro) c.1783T>C (p.Ser595Pro) c.511T>C (p.Ser171Pro) n.2053T>C c.1780T>C (p.Ser594Pro) c.1174T>C (p.Ser392Pro) | |
17 | g.75835474A>T | CA401092627 | UNC13D | c.718T>A (p.Ser240Thr) c.1783T>A (p.Ser595Thr) c.511T>A (p.Ser171Thr) n.2053T>A c.1780T>A (p.Ser594Thr) c.1174T>A (p.Ser392Thr) | |
17 | g.75835475G>A | CA502049736 | UNC13D | c.717C>T (p.Pro239=) c.1782C>T (p.Pro594=) c.510C>T (p.Pro170=) n.2052C>T c.1779C>T (p.Pro593=) c.1173C>T (p.Pro391=) | |
17 | g.75835475G>C | CA8772811 | UNC13D | c.717C>G (p.Pro239=) c.1782C>G (p.Pro594=) c.510C>G (p.Pro170=) n.2052C>G c.1779C>G (p.Pro593=) c.1173C>G (p.Pro391=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835475G= | CA2275706511 | UNC13D | c.717C= (p.Pro239=) c.1782C= (p.Pro594=) c.510C= (p.Pro170=) n.2052C= c.1779C= (p.Pro593=) c.1173C= (p.Pro391=) | |
17 | g.75835475G>T | CA502049737 | UNC13D | c.717C>A (p.Pro239=) c.1782C>A (p.Pro594=) c.510C>A (p.Pro170=) n.2052C>A c.1779C>A (p.Pro593=) c.1173C>A (p.Pro391=) | ClinVar dbSNP gnomAD v2 |
17 | g.75835476G>A | CA401092638 | UNC13D | c.716C>T (p.Pro239Leu) c.1781C>T (p.Pro594Leu) c.509C>T (p.Pro170Leu) n.2051C>T c.1778C>T (p.Pro593Leu) c.1172C>T (p.Pro391Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835476G>C | CA401092636 | UNC13D | c.716C>G (p.Pro239Arg) c.1781C>G (p.Pro594Arg) c.509C>G (p.Pro170Arg) n.2051C>G c.1778C>G (p.Pro593Arg) c.1172C>G (p.Pro391Arg) | |
17 | g.75835476G= | CA2275706512 | UNC13D | c.716C= (p.Pro239=) c.1781C= (p.Pro594=) c.509C= (p.Pro170=) n.2051C= c.1778C= (p.Pro593=) c.1172C= (p.Pro391=) | |
17 | g.75835476G>T | CA401092642 | UNC13D | c.716C>A (p.Pro239His) c.1781C>A (p.Pro594His) c.509C>A (p.Pro170His) n.2051C>A c.1778C>A (p.Pro593His) c.1172C>A (p.Pro391His) | |
17 | g.75835477G>A | CA401092653 | UNC13D | c.715C>T (p.Pro239Ser) c.1780C>T (p.Pro594Ser) c.508C>T (p.Pro170Ser) n.2050C>T c.1777C>T (p.Pro593Ser) c.1171C>T (p.Pro391Ser) | |
17 | g.75835477G>C | CA401092657 | UNC13D | c.715C>G (p.Pro239Ala) c.1780C>G (p.Pro594Ala) c.508C>G (p.Pro170Ala) n.2050C>G c.1777C>G (p.Pro593Ala) c.1171C>G (p.Pro391Ala) | dbSNP |
17 | g.75835477G= | CA2275706513 | UNC13D | c.715C= (p.Pro239=) c.1780C= (p.Pro594=) c.508C= (p.Pro170=) n.2050C= c.1777C= (p.Pro593=) c.1171C= (p.Pro391=) | |
17 | g.75835477G>T | CA401092662 | UNC13D | c.715C>A (p.Pro239Thr) c.1780C>A (p.Pro594Thr) c.508C>A (p.Pro170Thr) n.2050C>A c.1777C>A (p.Pro593Thr) c.1171C>A (p.Pro391Thr) | |
17 | g.75835478G>A | CA294086720 | UNC13D | c.714C>T (p.Ile238=) c.1779C>T (p.Ile593=) c.507C>T (p.Ile169=) n.2049C>T c.1776C>T (p.Ile592=) c.1170C>T (p.Ile390=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835478G>C | CA401092672 | UNC13D | c.714C>G (p.Ile238Met) c.1779C>G (p.Ile593Met) c.507C>G (p.Ile169Met) n.2049C>G c.1776C>G (p.Ile592Met) c.1170C>G (p.Ile390Met) | gnomAD v4 |
17 | g.75835478G= | CA2275706514 | UNC13D | c.714C= (p.Ile238=) c.1779C= (p.Ile593=) c.507C= (p.Ile169=) n.2049C= c.1776C= (p.Ile592=) c.1170C= (p.Ile390=) | |
17 | g.75835478G>T | CA502049746 | UNC13D | c.714C>A (p.Ile238=) c.1779C>A (p.Ile593=) c.507C>A (p.Ile169=) n.2049C>A c.1776C>A (p.Ile592=) c.1170C>A (p.Ile390=) | |
17 | g.75835479A= | CA2275706515 | UNC13D | c.713T= (p.Ile238=) c.1778T= (p.Ile593=) c.506T= (p.Ile169=) n.2048T= c.1775T= (p.Ile592=) c.1169T= (p.Ile390=) | |
17 | g.75835479A>C | CA401092683 | UNC13D | c.713T>G (p.Ile238Ser) c.1778T>G (p.Ile593Ser) c.506T>G (p.Ile169Ser) n.2048T>G c.1775T>G (p.Ile592Ser) c.1169T>G (p.Ile390Ser) | |
17 | g.75835479A>G | CA401092680 | UNC13D | c.713T>C (p.Ile238Thr) c.1778T>C (p.Ile593Thr) c.506T>C (p.Ile169Thr) n.2048T>C c.1775T>C (p.Ile592Thr) c.1169T>C (p.Ile390Thr) | ClinVar dbSNP |
17 | g.75835479A>T | CA401092677 | UNC13D | c.713T>A (p.Ile238Asn) c.1778T>A (p.Ile593Asn) c.506T>A (p.Ile169Asn) n.2048T>A c.1775T>A (p.Ile592Asn) c.1169T>A (p.Ile390Asn) | gnomAD v4 |
17 | g.75835480T>A | CA401092690 | UNC13D | c.712A>T (p.Ile238Phe) c.1777A>T (p.Ile593Phe) c.505A>T (p.Ile169Phe) n.2047A>T c.1774A>T (p.Ile592Phe) c.1168A>T (p.Ile390Phe) | |
17 | g.75835480T>C | CA8772812 | UNC13D | c.712A>G (p.Ile238Val) c.1777A>G (p.Ile593Val) c.505A>G (p.Ile169Val) n.2047A>G c.1774A>G (p.Ile592Val) c.1168A>G (p.Ile390Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835480T>G | CA401092695 | UNC13D | c.712A>C (p.Ile238Leu) c.1777A>C (p.Ile593Leu) c.505A>C (p.Ile169Leu) n.2047A>C c.1774A>C (p.Ile592Leu) c.1168A>C (p.Ile390Leu) | |
17 | g.75835480T= | CA2275706516 | UNC13D | c.712A= (p.Ile238=) c.1777A= (p.Ile593=) c.505A= (p.Ile169=) n.2047A= c.1774A= (p.Ile592=) c.1168A= (p.Ile390=) | |
17 | g.75835481G>A | CA502049752 | UNC13D | c.711C>T (p.Ala237=) c.1776C>T (p.Ala592=) c.504C>T (p.Ala168=) n.2046C>T c.1773C>T (p.Ala591=) c.1167C>T (p.Ala389=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.75835481G>C | CA502049753 | UNC13D | c.711C>G (p.Ala237=) c.1776C>G (p.Ala592=) c.504C>G (p.Ala168=) n.2046C>G c.1773C>G (p.Ala591=) c.1167C>G (p.Ala389=) | |
17 | g.75835481G= | CA2275706517 | UNC13D | c.711C= (p.Ala237=) c.1776C= (p.Ala592=) c.504C= (p.Ala168=) n.2046C= c.1773C= (p.Ala591=) c.1167C= (p.Ala389=) | |
17 | g.75835481G>T | CA502049754 | UNC13D | c.711C>A (p.Ala237=) c.1776C>A (p.Ala592=) c.504C>A (p.Ala168=) n.2046C>A c.1773C>A (p.Ala591=) c.1167C>A (p.Ala389=) | |
17 | g.75835482G>A | CA401092700 | UNC13D | c.710C>T (p.Ala237Val) c.1775C>T (p.Ala592Val) c.503C>T (p.Ala168Val) n.2045C>T c.1772C>T (p.Ala591Val) c.1166C>T (p.Ala389Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.75835482G>C | CA401092703 | UNC13D | c.710C>G (p.Ala237Gly) c.1775C>G (p.Ala592Gly) c.503C>G (p.Ala168Gly) n.2045C>G c.1772C>G (p.Ala591Gly) c.1166C>G (p.Ala389Gly) | |
17 | g.75835482G= | CA2275706518 | UNC13D | c.710C= (p.Ala237=) c.1775C= (p.Ala592=) c.503C= (p.Ala168=) n.2045C= c.1772C= (p.Ala591=) c.1166C= (p.Ala389=) | |
17 | g.75835482G>T | CA401092708 | UNC13D | c.710C>A (p.Ala237Asp) c.1775C>A (p.Ala592Asp) c.503C>A (p.Ala168Asp) n.2045C>A c.1772C>A (p.Ala591Asp) c.1166C>A (p.Ala389Asp) | |
17 | g.75835483C>A | CA401092710 | UNC13D | c.709G>T (p.Ala237Ser) c.1774G>T (p.Ala592Ser) c.502G>T (p.Ala168Ser) n.2044G>T c.1771G>T (p.Ala591Ser) c.1165G>T (p.Ala389Ser) | gnomAD v4 |
17 | g.75835483C= | CA2275706519 | UNC13D | c.709G= (p.Ala237=) c.1774G= (p.Ala592=) c.502G= (p.Ala168=) n.2044G= c.1771G= (p.Ala591=) c.1165G= (p.Ala389=) | |
17 | g.75835483C>G | CA401092716 | UNC13D | c.709G>C (p.Ala237Pro) c.1774G>C (p.Ala592Pro) c.502G>C (p.Ala168Pro) n.2044G>C c.1771G>C (p.Ala591Pro) c.1165G>C (p.Ala389Pro) | |
17 | g.75835483C>T | CA401092713 | UNC13D | c.709G>A (p.Ala237Thr) c.1774G>A (p.Ala592Thr) c.502G>A (p.Ala168Thr) n.2044G>A c.1771G>A (p.Ala591Thr) c.1165G>A (p.Ala389Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.75835484C>A | CA8772813 | UNC13D | c.708G>T (p.Pro236=) c.1773G>T (p.Pro591=) c.501G>T (p.Pro167=) n.2043G>T c.1770G>T (p.Pro590=) c.1164G>T (p.Pro388=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835484C= | CA2275706520 | UNC13D | c.708G= (p.Pro236=) c.1773G= (p.Pro591=) c.501G= (p.Pro167=) n.2043G= c.1770G= (p.Pro590=) c.1164G= (p.Pro388=) | |
17 | g.75835484C>G | CA502049630 | UNC13D | c.708G>C (p.Pro236=) c.1773G>C (p.Pro591=) c.501G>C (p.Pro167=) n.2043G>C c.1770G>C (p.Pro590=) c.1164G>C (p.Pro388=) | |
17 | g.75835484C>T | CA8772814 | UNC13D | c.708G>A (p.Pro236=) c.1773G>A (p.Pro591=) c.501G>A (p.Pro167=) n.2043G>A c.1770G>A (p.Pro590=) c.1164G>A (p.Pro388=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835485G>A | CA8772815 | UNC13D | c.707C>T (p.Pro236Leu) c.1772C>T (p.Pro591Leu) c.500C>T (p.Pro167Leu) n.2042C>T c.1769C>T (p.Pro590Leu) c.1163C>T (p.Pro388Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835485G>C | CA401092730 | UNC13D | c.707C>G (p.Pro236Arg) c.1772C>G (p.Pro591Arg) c.500C>G (p.Pro167Arg) n.2042C>G c.1769C>G (p.Pro590Arg) c.1163C>G (p.Pro388Arg) | |
17 | g.75835485G= | CA2275706521 | UNC13D | c.707C= (p.Pro236=) c.1772C= (p.Pro591=) c.500C= (p.Pro167=) n.2042C= c.1769C= (p.Pro590=) c.1163C= (p.Pro388=) | |
17 | g.75835485G>T | CA401092733 | UNC13D | c.707C>A (p.Pro236Gln) c.1772C>A (p.Pro591Gln) c.500C>A (p.Pro167Gln) n.2042C>A c.1769C>A (p.Pro590Gln) c.1163C>A (p.Pro388Gln) | gnomAD v4 |
17 | g.75835486G>A | CA401092741 | UNC13D | c.706C>T (p.Pro236Ser) c.1771C>T (p.Pro591Ser) c.499C>T (p.Pro167Ser) n.2041C>T c.1768C>T (p.Pro590Ser) c.1162C>T (p.Pro388Ser) | gnomAD v4 COSMIC |
17 | g.75835486G>C | CA401092745 | UNC13D | c.706C>G (p.Pro236Ala) c.1771C>G (p.Pro591Ala) c.499C>G (p.Pro167Ala) n.2041C>G c.1768C>G (p.Pro590Ala) c.1162C>G (p.Pro388Ala) | |
17 | g.75835486G>T | CA401092749 | UNC13D | c.706C>A (p.Pro236Thr) c.1771C>A (p.Pro591Thr) c.499C>A (p.Pro167Thr) n.2041C>A c.1768C>A (p.Pro590Thr) c.1162C>A (p.Pro388Thr) | |
17 | g.75835487C>A | CA401092750 | UNC13D | c.705G>T (p.Gln235His) c.1770G>T (p.Gln590His) c.498G>T (p.Gln166His) n.2040G>T c.1767G>T (p.Gln589His) c.1161G>T (p.Gln387His) | |
17 | g.75835487C>G | CA401092751 | UNC13D | c.705G>C (p.Gln235His) c.1770G>C (p.Gln590His) c.498G>C (p.Gln166His) n.2040G>C c.1767G>C (p.Gln589His) c.1161G>C (p.Gln387His) | |
17 | g.75835487C>T | CA502049631 | UNC13D | c.705G>A (p.Gln235=) c.1770G>A (p.Gln590=) c.498G>A (p.Gln166=) n.2040G>A c.1767G>A (p.Gln589=) c.1161G>A (p.Gln387=) | |
17 | g.75835488T>A | CA401092761 | UNC13D | c.704A>T (p.Gln235Leu) c.1769A>T (p.Gln590Leu) c.497A>T (p.Gln166Leu) n.2039A>T c.1766A>T (p.Gln589Leu) c.1160A>T (p.Gln387Leu) | |
17 | g.75835488T>C | CA401092756 | UNC13D | c.704A>G (p.Gln235Arg) c.1769A>G (p.Gln590Arg) c.497A>G (p.Gln166Arg) n.2039A>G c.1766A>G (p.Gln589Arg) c.1160A>G (p.Gln387Arg) | gnomAD v4 |
17 | g.75835488T>G | CA401092754 | UNC13D | c.704A>C (p.Gln235Pro) c.1769A>C (p.Gln590Pro) c.497A>C (p.Gln166Pro) n.2039A>C c.1766A>C (p.Gln589Pro) c.1160A>C (p.Gln387Pro) | |
17 | g.75835489G>A | CA401092767 | UNC13D | c.703C>T (p.Gln235Ter) c.1768C>T (p.Gln590Ter) c.496C>T (p.Gln166Ter) n.2038C>T c.1765C>T (p.Gln589Ter) c.1159C>T (p.Gln387Ter) | ClinVar dbSNP gnomAD v4 |
17 | g.75835489G>C | CA401092770 | UNC13D | c.703C>G (p.Gln235Glu) c.1768C>G (p.Gln590Glu) c.496C>G (p.Gln166Glu) n.2038C>G c.1765C>G (p.Gln589Glu) c.1159C>G (p.Gln387Glu) | |
17 | g.75835489G= | CA2275706522 | UNC13D | c.703C= (p.Gln235=) c.1768C= (p.Gln590=) c.496C= (p.Gln166=) n.2038C= c.1765C= (p.Gln589=) c.1159C= (p.Gln387=) | |
17 | g.75835489G>T | CA401092782 | UNC13D | c.703C>A (p.Gln235Lys) c.1768C>A (p.Gln590Lys) c.496C>A (p.Gln166Lys) n.2038C>A c.1765C>A (p.Gln589Lys) c.1159C>A (p.Gln387Lys) | |
17 | g.75835490G>A | CA502049633 | UNC13D | c.702C>T (p.Phe234=) c.1767C>T (p.Phe589=) c.495C>T (p.Phe165=) n.2037C>T c.1764C>T (p.Phe588=) c.1158C>T (p.Phe386=) | dbSNP |
17 | g.75835490G>C | CA401092787 | UNC13D | c.702C>G (p.Phe234Leu) c.1767C>G (p.Phe589Leu) c.495C>G (p.Phe165Leu) n.2037C>G c.1764C>G (p.Phe588Leu) c.1158C>G (p.Phe386Leu) | |
17 | g.75835490G>T | CA401092794 | UNC13D | c.702C>A (p.Phe234Leu) c.1767C>A (p.Phe589Leu) c.495C>A (p.Phe165Leu) n.2037C>A c.1764C>A (p.Phe588Leu) c.1158C>A (p.Phe386Leu) | |
17 | g.75835491A>C | CA401092805 | UNC13D | c.701T>G (p.Phe234Cys) c.1766T>G (p.Phe589Cys) c.494T>G (p.Phe165Cys) n.2036T>G c.1763T>G (p.Phe588Cys) c.1157T>G (p.Phe386Cys) | |
17 | g.75835491A>G | CA401092803 | UNC13D | c.701T>C (p.Phe234Ser) c.1766T>C (p.Phe589Ser) c.494T>C (p.Phe165Ser) n.2036T>C c.1763T>C (p.Phe588Ser) c.1157T>C (p.Phe386Ser) | |
17 | g.75835491A>T | CA401092801 | UNC13D | c.701T>A (p.Phe234Tyr) c.1766T>A (p.Phe589Tyr) c.494T>A (p.Phe165Tyr) n.2036T>A c.1763T>A (p.Phe588Tyr) c.1157T>A (p.Phe386Tyr) | |
17 | g.75835491_75835493del | CA2576393021 | UNC13D | c.699_701del (p.Trp233_Phe234delinsCys) c.1764_1766del (p.Trp588_Phe589delinsCys) c.492_494del (p.Trp164_Phe165delinsCys) n.2034_2036del c.1761_1763del (p.Trp587_Phe588delinsCys) c.1155_1157del (p.Trp385_Phe386delinsCys) | |
17 | g.75835492A>C | CA401092808 | UNC13D | c.700T>G (p.Phe234Val) c.1765T>G (p.Phe589Val) c.493T>G (p.Phe165Val) n.2035T>G c.1762T>G (p.Phe588Val) c.1156T>G (p.Phe386Val) | gnomAD v4 |
17 | g.75835492A>G | CA401092811 | UNC13D | c.700T>C (p.Phe234Leu) c.1765T>C (p.Phe589Leu) c.493T>C (p.Phe165Leu) n.2035T>C c.1762T>C (p.Phe588Leu) c.1156T>C (p.Phe386Leu) | |
17 | g.75835492A>T | CA401092814 | UNC13D | c.700T>A (p.Phe234Ile) c.1765T>A (p.Phe589Ile) c.493T>A (p.Phe165Ile) n.2035T>A c.1762T>A (p.Phe588Ile) c.1156T>A (p.Phe386Ile) | |
17 | g.75835493C>A | CA401092822 | UNC13D | c.699G>T (p.Trp233Cys) c.1764G>T (p.Trp588Cys) c.492G>T (p.Trp164Cys) n.2034G>T c.1761G>T (p.Trp587Cys) c.1155G>T (p.Trp385Cys) | gnomAD v4 |
17 | g.75835493C>G | CA401092825 | UNC13D | c.699G>C (p.Trp233Cys) c.1764G>C (p.Trp588Cys) c.492G>C (p.Trp164Cys) n.2034G>C c.1761G>C (p.Trp587Cys) c.1155G>C (p.Trp385Cys) | |
17 | g.75835493C>T | CA401092827 | UNC13D | c.699G>A (p.Trp233Ter) c.1764G>A (p.Trp588Ter) c.492G>A (p.Trp164Ter) n.2034G>A c.1761G>A (p.Trp587Ter) c.1155G>A (p.Trp385Ter) | |
17 | g.75835494C>A | CA401092830 | UNC13D | c.698G>T (p.Trp233Leu) c.1763G>T (p.Trp588Leu) c.491G>T (p.Trp164Leu) n.2033G>T c.1760G>T (p.Trp587Leu) c.1154G>T (p.Trp385Leu) | gnomAD v4 |
17 | g.75835494C>G | CA401092839 | UNC13D | c.698G>C (p.Trp233Ser) c.1763G>C (p.Trp588Ser) c.491G>C (p.Trp164Ser) n.2033G>C c.1760G>C (p.Trp587Ser) c.1154G>C (p.Trp385Ser) | |
17 | g.75835494C>T | CA401092837 | UNC13D | c.698G>A (p.Trp233Ter) c.1763G>A (p.Trp588Ter) c.491G>A (p.Trp164Ter) n.2033G>A c.1760G>A (p.Trp587Ter) c.1154G>A (p.Trp385Ter) | ClinVar |
17 | g.75835495A= | CA2275706523 | UNC13D | c.697T= (p.Trp233=) c.1762T= (p.Trp588=) c.490T= (p.Trp164=) n.2032T= c.1759T= (p.Trp587=) c.1153T= (p.Trp385=) | |
17 | g.75835495A>C | CA401092843 | UNC13D | c.697T>G (p.Trp233Gly) c.1762T>G (p.Trp588Gly) c.490T>G (p.Trp164Gly) n.2032T>G c.1759T>G (p.Trp587Gly) c.1153T>G (p.Trp385Gly) | |
17 | g.75835495A>G | CA401092846 | UNC13D | c.697T>C (p.Trp233Arg) c.1762T>C (p.Trp588Arg) c.490T>C (p.Trp164Arg) n.2032T>C c.1759T>C (p.Trp587Arg) c.1153T>C (p.Trp385Arg) | dbSNP gnomAD v4 |
17 | g.75835495A>T | CA401092850 | UNC13D | c.697T>A (p.Trp233Arg) c.1762T>A (p.Trp588Arg) c.490T>A (p.Trp164Arg) n.2032T>A c.1759T>A (p.Trp587Arg) c.1153T>A (p.Trp385Arg) | |
17 | g.75835496G>A | CA502049635 | UNC13D | c.696C>T (p.Arg232=) c.1761C>T (p.Arg587=) c.489C>T (p.Arg163=) n.2031C>T c.1758C>T (p.Arg586=) c.1152C>T (p.Arg384=) | |
17 | g.75835496G>C | CA502049636 | UNC13D | c.696C>G (p.Arg232=) c.1761C>G (p.Arg587=) c.489C>G (p.Arg163=) n.2031C>G c.1758C>G (p.Arg586=) c.1152C>G (p.Arg384=) | |
17 | g.75835496G>T | CA502049637 | UNC13D | c.696C>A (p.Arg232=) c.1761C>A (p.Arg587=) c.489C>A (p.Arg163=) n.2031C>A c.1758C>A (p.Arg586=) c.1152C>A (p.Arg384=) | |
17 | g.75835497C>A | CA8772817 | UNC13D | c.695G>T (p.Arg232Leu) c.1760G>T (p.Arg587Leu) c.488G>T (p.Arg163Leu) n.2030G>T c.1757G>T (p.Arg586Leu) c.1151G>T (p.Arg384Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.75835497C= | CA2275706524 | UNC13D | c.695G= (p.Arg232=) c.1760G= (p.Arg587=) c.488G= (p.Arg163=) n.2030G= c.1757G= (p.Arg586=) c.1151G= (p.Arg384=) | |
17 | g.75835497C>G | CA401092860 | UNC13D | c.695G>C (p.Arg232Pro) c.1760G>C (p.Arg587Pro) c.488G>C (p.Arg163Pro) n.2030G>C c.1757G>C (p.Arg586Pro) c.1151G>C (p.Arg384Pro) | |
17 | g.75835497C>T | CA8772816 | UNC13D | c.695G>A (p.Arg232His) c.1760G>A (p.Arg587His) c.488G>A (p.Arg163His) n.2030G>A c.1757G>A (p.Arg586His) c.1151G>A (p.Arg384His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835498G>A | CA8772818 | UNC13D | c.694C>T (p.Arg232Cys) c.1759C>T (p.Arg587Cys) c.487C>T (p.Arg163Cys) n.2029C>T c.1756C>T (p.Arg586Cys) c.1150C>T (p.Arg384Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835498G>C | CA401092876 | UNC13D | c.694C>G (p.Arg232Gly) c.1759C>G (p.Arg587Gly) c.487C>G (p.Arg163Gly) n.2029C>G c.1756C>G (p.Arg586Gly) c.1150C>G (p.Arg384Gly) | |
17 | g.75835498G= | CA2275706525 | UNC13D | c.694C= (p.Arg232=) c.1759C= (p.Arg587=) c.487C= (p.Arg163=) n.2029C= c.1756C= (p.Arg586=) c.1150C= (p.Arg384=) | |
17 | g.75835498G>T | CA401092894 | UNC13D | c.694C>A (p.Arg232Ser) c.1759C>A (p.Arg587Ser) c.487C>A (p.Arg163Ser) n.2029C>A c.1756C>A (p.Arg586Ser) c.1150C>A (p.Arg384Ser) | gnomAD v4 |
17 | g.75835499G>A | CA8772819 | UNC13D | c.693C>T (p.His231=) c.1758C>T (p.His586=) c.486C>T (p.His162=) n.2028C>T c.1755C>T (p.His585=) c.1149C>T (p.His383=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835499G>C | CA401092896 | UNC13D | c.693C>G (p.His231Gln) c.1758C>G (p.His586Gln) c.486C>G (p.His162Gln) n.2028C>G c.1755C>G (p.His585Gln) c.1149C>G (p.His383Gln) | |
17 | g.75835499G= | CA2275706526 | UNC13D | c.693C= (p.His231=) c.1758C= (p.His586=) c.486C= (p.His162=) n.2028C= c.1755C= (p.His585=) c.1149C= (p.His383=) | |
17 | g.75835499G>T | CA401092898 | UNC13D | c.693C>A (p.His231Gln) c.1758C>A (p.His586Gln) c.486C>A (p.His162Gln) n.2028C>A c.1755C>A (p.His585Gln) c.1149C>A (p.His383Gln) | |
17 | g.75835500T>A | CA401092906 | UNC13D | c.692A>T (p.His231Leu) c.1757A>T (p.His586Leu) c.485A>T (p.His162Leu) n.2027A>T c.1754A>T (p.His585Leu) c.1148A>T (p.His383Leu) | |
17 | g.75835500T>C | CA8772820 | UNC13D | c.692A>G (p.His231Arg) c.1757A>G (p.His586Arg) c.485A>G (p.His162Arg) n.2027A>G c.1754A>G (p.His585Arg) c.1148A>G (p.His383Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.75835500T>G | CA401092901 | UNC13D | c.692A>C (p.His231Pro) c.1757A>C (p.His586Pro) c.485A>C (p.His162Pro) n.2027A>C c.1754A>C (p.His585Pro) c.1148A>C (p.His383Pro) | dbSNP |
17 | g.75835500T= | CA2275706527 | UNC13D | c.692A= (p.His231=) c.1757A= (p.His586=) c.485A= (p.His162=) n.2027A= c.1754A= (p.His585=) c.1148A= (p.His383=) | |
17 | g.75835501G>A | CA401092925 | UNC13D | c.691C>T (p.His231Tyr) c.1756C>T (p.His586Tyr) c.484C>T (p.His162Tyr) n.2026C>T c.1753C>T (p.His585Tyr) c.1147C>T (p.His383Tyr) | COSMIC |
17 | g.75835501G>C | CA401092922 | UNC13D | c.691C>G (p.His231Asp) c.1756C>G (p.His586Asp) c.484C>G (p.His162Asp) n.2026C>G c.1753C>G (p.His585Asp) c.1147C>G (p.His383Asp) | |
17 | g.75835501G>T | CA401092923 | UNC13D | c.691C>A (p.His231Asn) c.1756C>A (p.His586Asn) c.484C>A (p.His162Asn) n.2026C>A c.1753C>A (p.His585Asn) c.1147C>A (p.His383Asn) | |
17 | g.75835502G>A | CA502049645 | UNC13D | c.690C>T (p.Phe230=) c.1755C>T (p.Phe585=) c.483C>T (p.Phe161=) n.2025C>T c.1752C>T (p.Phe584=) c.1146C>T (p.Phe382=) | gnomAD v4 |
17 | g.75835502G>C | CA401092931 | UNC13D | c.690C>G (p.Phe230Leu) c.1755C>G (p.Phe585Leu) c.483C>G (p.Phe161Leu) n.2025C>G c.1752C>G (p.Phe584Leu) c.1146C>G (p.Phe382Leu) | |
17 | g.75835502G= | CA2275706528 | UNC13D | c.690C= (p.Phe230=) c.1755C= (p.Phe585=) c.483C= (p.Phe161=) n.2025C= c.1752C= (p.Phe584=) c.1146C= (p.Phe382=) | |
17 | g.75835502G>T | CA401092933 | UNC13D | c.690C>A (p.Phe230Leu) c.1755C>A (p.Phe585Leu) c.483C>A (p.Phe161Leu) n.2025C>A c.1752C>A (p.Phe584Leu) c.1146C>A (p.Phe382Leu) | |
17 | g.75835503A>C | CA401092938 | UNC13D | c.689T>G (p.Phe230Cys) c.1754T>G (p.Phe585Cys) c.482T>G (p.Phe161Cys) n.2024T>G c.1751T>G (p.Phe584Cys) c.1145T>G (p.Phe382Cys) | |
17 | g.75835503A>G | CA401092940 | UNC13D | c.689T>C (p.Phe230Ser) c.1754T>C (p.Phe585Ser) c.482T>C (p.Phe161Ser) n.2024T>C c.1751T>C (p.Phe584Ser) c.1145T>C (p.Phe382Ser) | gnomAD v4 |
17 | g.75835503A>T | CA401092941 | UNC13D | c.689T>A (p.Phe230Tyr) c.1754T>A (p.Phe585Tyr) c.482T>A (p.Phe161Tyr) n.2024T>A c.1751T>A (p.Phe584Tyr) c.1145T>A (p.Phe382Tyr) | |
17 | g.75835505dup | CA252029 | UNC13D | c.689dup (p.His231ProfsTer?) c.1754dup (p.His586ProfsTer?) c.482dup (p.His162ProfsTer?) n.2024dup c.1751dup (p.His585ProfsTer?) c.1145dup (p.His383ProfsTer?) | ClinVar dbSNP |
17 | g.75835504A>C | CA401092943 | UNC13D | c.688T>G (p.Phe230Val) c.1753T>G (p.Phe585Val) c.481T>G (p.Phe161Val) n.2023T>G c.1750T>G (p.Phe584Val) c.1144T>G (p.Phe382Val) | |
17 | g.75835504A>G | CA401092946 | UNC13D | c.688T>C (p.Phe230Leu) c.1753T>C (p.Phe585Leu) c.481T>C (p.Phe161Leu) n.2023T>C c.1750T>C (p.Phe584Leu) c.1144T>C (p.Phe382Leu) | |
17 | g.75835504A>T | CA401092963 | UNC13D | c.688T>A (p.Phe230Ile) c.1753T>A (p.Phe585Ile) c.481T>A (p.Phe161Ile) n.2023T>A c.1750T>A (p.Phe584Ile) c.1144T>A (p.Phe382Ile) | |
17 | g.75835505A>C | CA401092964 | UNC13D | c.687T>G (p.Asn229Lys) c.1752T>G (p.Asn584Lys) c.480T>G (p.Asn160Lys) n.2022T>G c.1749T>G (p.Asn583Lys) c.1143T>G (p.Asn381Lys) | |
17 | g.75835505A>G | CA502049652 | UNC13D | c.687T>C (p.Asn229=) c.1752T>C (p.Asn584=) c.480T>C (p.Asn160=) n.2022T>C c.1749T>C (p.Asn583=) c.1143T>C (p.Asn381=) | gnomAD v4 |
17 | g.75835505A>T | CA401092965 | UNC13D | c.687T>A (p.Asn229Lys) c.1752T>A (p.Asn584Lys) c.480T>A (p.Asn160Lys) n.2022T>A c.1749T>A (p.Asn583Lys) c.1143T>A (p.Asn381Lys) | |
17 | g.75835506T>A | CA401092972 | UNC13D | c.686A>T (p.Asn229Ile) c.1751A>T (p.Asn584Ile) c.479A>T (p.Asn160Ile) n.2021A>T c.1748A>T (p.Asn583Ile) c.1142A>T (p.Asn381Ile) | |
17 | g.75835506T>C | CA401092969 | UNC13D | c.686A>G (p.Asn229Ser) c.1751A>G (p.Asn584Ser) c.479A>G (p.Asn160Ser) n.2021A>G c.1748A>G (p.Asn583Ser) c.1142A>G (p.Asn381Ser) | |
17 | g.75835506T>G | CA401092968 | UNC13D | c.686A>C (p.Asn229Thr) c.1751A>C (p.Asn584Thr) c.479A>C (p.Asn160Thr) n.2021A>C c.1748A>C (p.Asn583Thr) c.1142A>C (p.Asn381Thr) | |
17 | g.75835507T>A | CA401092977 | UNC13D | c.685A>T (p.Asn229Tyr) c.1750A>T (p.Asn584Tyr) c.478A>T (p.Asn160Tyr) n.2020A>T c.1747A>T (p.Asn583Tyr) c.1141A>T (p.Asn381Tyr) | |
17 | g.75835507T>C | CA8772821 | UNC13D | c.685A>G (p.Asn229Asp) c.1750A>G (p.Asn584Asp) c.478A>G (p.Asn160Asp) n.2020A>G c.1747A>G (p.Asn583Asp) c.1141A>G (p.Asn381Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.75835507T>G | CA401092985 | UNC13D | c.685A>C (p.Asn229His) c.1750A>C (p.Asn584His) c.478A>C (p.Asn160His) n.2020A>C c.1747A>C (p.Asn583His) c.1141A>C (p.Asn381His) | |
17 | g.75835507T= | CA2275706529 | UNC13D | c.685A= (p.Asn229=) c.1750A= (p.Asn584=) c.478A= (p.Asn160=) n.2020A= c.1747A= (p.Asn583=) c.1141A= (p.Asn381=) | |
17 | g.75835508A>C | CA401092989 | UNC13D | c.684T>G (p.Asp228Glu) c.1749T>G (p.Asp583Glu) c.477T>G (p.Asp159Glu) n.2019T>G c.1746T>G (p.Asp582Glu) c.1140T>G (p.Asp380Glu) | |
17 | g.75835508A>G | CA502049656 | UNC13D | c.684T>C (p.Asp228=) c.1749T>C (p.Asp583=) c.477T>C (p.Asp159=) n.2019T>C c.1746T>C (p.Asp582=) c.1140T>C (p.Asp380=) | |
17 | g.75835508A>T | CA401092999 | UNC13D | c.684T>A (p.Asp228Glu) c.1749T>A (p.Asp583Glu) c.477T>A (p.Asp159Glu) n.2019T>A c.1746T>A (p.Asp582Glu) c.1140T>A (p.Asp380Glu) | |
17 | g.75835509T>A | CA401093004 | UNC13D | c.683A>T (p.Asp228Val) c.1748A>T (p.Asp583Val) c.476A>T (p.Asp159Val) n.2018A>T c.1745A>T (p.Asp582Val) c.1139A>T (p.Asp380Val) | |
17 | g.75835509T>C | CA401093005 | UNC13D | c.683A>G (p.Asp228Gly) c.1748A>G (p.Asp583Gly) c.476A>G (p.Asp159Gly) n.2018A>G c.1745A>G (p.Asp582Gly) c.1139A>G (p.Asp380Gly) | |
17 | g.75835509T>G | CA401093006 | UNC13D | c.683A>C (p.Asp228Ala) c.1748A>C (p.Asp583Ala) c.476A>C (p.Asp159Ala) n.2018A>C c.1745A>C (p.Asp582Ala) c.1139A>C (p.Asp380Ala) | |
17 | g.75835510C>A | CA401093009 | UNC13D | c.682G>T (p.Asp228Tyr) c.1747G>T (p.Asp583Tyr) c.475G>T (p.Asp159Tyr) n.2017G>T c.1744G>T (p.Asp582Tyr) c.1138G>T (p.Asp380Tyr) | |
17 | g.75835510C= | CA2275706530 | UNC13D | c.682G= (p.Asp228=) c.1747G= (p.Asp583=) c.475G= (p.Asp159=) n.2017G= c.1744G= (p.Asp582=) c.1138G= (p.Asp380=) | |
17 | g.75835510C>G | CA401093013 | UNC13D | c.682G>C (p.Asp228His) c.1747G>C (p.Asp583His) c.475G>C (p.Asp159His) n.2017G>C c.1744G>C (p.Asp582His) c.1138G>C (p.Asp380His) | |
17 | g.75835510C>T | CA401093032 | UNC13D | c.682G>A (p.Asp228Asn) c.1747G>A (p.Asp583Asn) c.475G>A (p.Asp159Asn) n.2017G>A c.1744G>A (p.Asp582Asn) c.1138G>A (p.Asp380Asn) | dbSNP gnomAD v2 |
17 | g.75835511C>A | CA502049663 | UNC13D | c.681G>T (p.Leu227=) c.1746G>T (p.Leu582=) c.474G>T (p.Leu158=) n.2016G>T c.1743G>T (p.Leu581=) c.1137G>T (p.Leu379=) | |
17 | g.75835511C= | CA2275706531 | UNC13D | c.681G= (p.Leu227=) c.1746G= (p.Leu582=) c.474G= (p.Leu158=) n.2016G= c.1743G= (p.Leu581=) c.1137G= (p.Leu379=) | |
17 | g.75835511C>G | CA502049665 | UNC13D | c.681G>C (p.Leu227=) c.1746G>C (p.Leu582=) c.474G>C (p.Leu158=) n.2016G>C c.1743G>C (p.Leu581=) c.1137G>C (p.Leu379=) | |
17 | g.75835511C>T | CA502049664 | UNC13D | c.681G>A (p.Leu227=) c.1746G>A (p.Leu582=) c.474G>A (p.Leu158=) n.2016G>A c.1743G>A (p.Leu581=) c.1137G>A (p.Leu379=) | dbSNP gnomAD v2 |
17 | g.75835512A= | CA2275706532 | UNC13D | c.680T= (p.Leu227=) c.1745T= (p.Leu582=) c.473T= (p.Leu158=) n.2015T= c.1742T= (p.Leu581=) c.1136T= (p.Leu379=) | |
17 | g.75835512A>C | CA294086741 | UNC13D | c.680T>G (p.Leu227Arg) c.1745T>G (p.Leu582Arg) c.473T>G (p.Leu158Arg) n.2015T>G c.1742T>G (p.Leu581Arg) c.1136T>G (p.Leu379Arg) | dbSNP gnomAD v4 |
17 | g.75835512A>G | CA401093050 | UNC13D | c.680T>C (p.Leu227Pro) c.1745T>C (p.Leu582Pro) c.473T>C (p.Leu158Pro) n.2015T>C c.1742T>C (p.Leu581Pro) c.1136T>C (p.Leu379Pro) | gnomAD v4 |
17 | g.75835512A>T | CA401093052 | UNC13D | c.680T>A (p.Leu227Gln) c.1745T>A (p.Leu582Gln) c.473T>A (p.Leu158Gln) n.2015T>A c.1742T>A (p.Leu581Gln) c.1136T>A (p.Leu379Gln) | |
17 | g.75835513G>A | CA8772822 | UNC13D | c.679C>T (p.Leu227=) c.1744C>T (p.Leu582=) c.472C>T (p.Leu158=) n.2014C>T c.1741C>T (p.Leu581=) c.1135C>T (p.Leu379=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835513G>C | CA401093069 | UNC13D | c.679C>G (p.Leu227Val) c.1744C>G (p.Leu582Val) c.472C>G (p.Leu158Val) n.2014C>G c.1741C>G (p.Leu581Val) c.1135C>G (p.Leu379Val) | |
17 | g.75835513G= | CA2275706533 | UNC13D | c.679C= (p.Leu227=) c.1744C= (p.Leu582=) c.472C= (p.Leu158=) n.2014C= c.1741C= (p.Leu581=) c.1135C= (p.Leu379=) | |
17 | g.75835513G>T | CA401093061 | UNC13D | c.679C>A (p.Leu227Met) c.1744C>A (p.Leu582Met) c.472C>A (p.Leu158Met) n.2014C>A c.1741C>A (p.Leu581Met) c.1135C>A (p.Leu379Met) | |
17 | g.75835514G>A | CA502049671 | UNC13D | c.678C>T (p.Ala226=) c.1743C>T (p.Ala581=) c.471C>T (p.Ala157=) n.2013C>T c.1740C>T (p.Ala580=) c.1134C>T (p.Ala378=) | |
17 | g.75835514G>C | CA502049673 | UNC13D | c.678C>G (p.Ala226=) c.1743C>G (p.Ala581=) c.471C>G (p.Ala157=) n.2013C>G c.1740C>G (p.Ala580=) c.1134C>G (p.Ala378=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.75835514G= | CA2275706534 | UNC13D | c.678C= (p.Ala226=) c.1743C= (p.Ala581=) c.471C= (p.Ala157=) n.2013C= c.1740C= (p.Ala580=) c.1134C= (p.Ala378=) | |
17 | g.75835514G>T | CA502049674 | UNC13D | c.678C>A (p.Ala226=) c.1743C>A (p.Ala581=) c.471C>A (p.Ala157=) n.2013C>A c.1740C>A (p.Ala580=) c.1134C>A (p.Ala378=) | |
17 | g.75835515G>A | CA401093078 | UNC13D | c.677C>T (p.Ala226Val) c.1742C>T (p.Ala581Val) c.470C>T (p.Ala157Val) n.2012C>T c.1739C>T (p.Ala580Val) c.1133C>T (p.Ala378Val) | dbSNP gnomAD v4 |
17 | g.75835515G>C | CA401093080 | UNC13D | c.677C>G (p.Ala226Gly) c.1742C>G (p.Ala581Gly) c.470C>G (p.Ala157Gly) n.2012C>G c.1739C>G (p.Ala580Gly) c.1133C>G (p.Ala378Gly) | |
17 | g.75835515G= | CA2275706535 | UNC13D | c.677C= (p.Ala226=) c.1742C= (p.Ala581=) c.470C= (p.Ala157=) n.2012C= c.1739C= (p.Ala580=) c.1133C= (p.Ala378=) | |
17 | g.75835515G>T | CA401093081 | UNC13D | c.677C>A (p.Ala226Asp) c.1742C>A (p.Ala581Asp) c.470C>A (p.Ala157Asp) n.2012C>A c.1739C>A (p.Ala580Asp) c.1133C>A (p.Ala378Asp) | |
17 | g.75835516C>A | CA8772823 | UNC13D | c.676G>T (p.Ala226Ser) c.1741G>T (p.Ala581Ser) c.469G>T (p.Ala157Ser) n.2011G>T c.1738G>T (p.Ala580Ser) c.1132G>T (p.Ala378Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835516C= | CA2275706536 | UNC13D | c.676G= (p.Ala226=) c.1741G= (p.Ala581=) c.469G= (p.Ala157=) n.2011G= c.1738G= (p.Ala580=) c.1132G= (p.Ala378=) | |
17 | g.75835516C>G | CA401093089 | UNC13D | c.676G>C (p.Ala226Pro) c.1741G>C (p.Ala581Pro) c.469G>C (p.Ala157Pro) n.2011G>C c.1738G>C (p.Ala580Pro) c.1132G>C (p.Ala378Pro) | |
17 | g.75835516C>T | CA401093094 | UNC13D | c.676G>A (p.Ala226Thr) c.1741G>A (p.Ala581Thr) c.469G>A (p.Ala157Thr) n.2011G>A c.1738G>A (p.Ala580Thr) c.1132G>A (p.Ala378Thr) | COSMIC |
17 | g.75835517C>A | CA502049679 | UNC13D | c.675G>T (p.Leu225=) c.1740G>T (p.Leu580=) c.468G>T (p.Leu156=) n.2010G>T c.1737G>T (p.Leu579=) c.1131G>T (p.Leu377=) | |
17 | g.75835517C= | CA2275706537 | UNC13D | c.675G= (p.Leu225=) c.1740G= (p.Leu580=) c.468G= (p.Leu156=) n.2010G= c.1737G= (p.Leu579=) c.1131G= (p.Leu377=) | |
17 | g.75835517C>G | CA502049681 | UNC13D | c.675G>C (p.Leu225=) c.1740G>C (p.Leu580=) c.468G>C (p.Leu156=) n.2010G>C c.1737G>C (p.Leu579=) c.1131G>C (p.Leu377=) | |
17 | g.75835517C>T | CA502049684 | UNC13D | c.675G>A (p.Leu225=) c.1740G>A (p.Leu580=) c.468G>A (p.Leu156=) n.2010G>A c.1737G>A (p.Leu579=) c.1131G>A (p.Leu377=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.75835518A>C | CA401093106 | UNC13D | c.674T>G (p.Leu225Arg) c.1739T>G (p.Leu580Arg) c.467T>G (p.Leu156Arg) n.2009T>G c.1736T>G (p.Leu579Arg) c.1130T>G (p.Leu377Arg) | |
17 | g.75835518A>G | CA401093103 | UNC13D | c.674T>C (p.Leu225Pro) c.1739T>C (p.Leu580Pro) c.467T>C (p.Leu156Pro) n.2009T>C c.1736T>C (p.Leu579Pro) c.1130T>C (p.Leu377Pro) | |
17 | g.75835518A>T | CA401093105 | UNC13D | c.674T>A (p.Leu225Gln) c.1739T>A (p.Leu580Gln) c.467T>A (p.Leu156Gln) n.2009T>A c.1736T>A (p.Leu579Gln) c.1130T>A (p.Leu377Gln) | |
17 | g.75835519G>A | CA502049688 | UNC13D | c.673C>T (p.Leu225=) c.1738C>T (p.Leu580=) c.466C>T (p.Leu156=) n.2008C>T c.1735C>T (p.Leu579=) c.1129C>T (p.Leu377=) | |
17 | g.75835519G>C | CA401093107 | UNC13D | c.673C>G (p.Leu225Val) c.1738C>G (p.Leu580Val) c.466C>G (p.Leu156Val) n.2008C>G c.1735C>G (p.Leu579Val) c.1129C>G (p.Leu377Val) | |
17 | g.75835519G>T | CA401093110 | UNC13D | c.673C>A (p.Leu225Met) c.1738C>A (p.Leu580Met) c.466C>A (p.Leu156Met) n.2008C>A c.1735C>A (p.Leu579Met) c.1129C>A (p.Leu377Met) | gnomAD v4 |
17 | g.75835520G>A | CA502049693 | UNC13D | c.672C>T (p.Val224=) c.1737C>T (p.Val579=) c.465C>T (p.Val155=) n.2007C>T c.1734C>T (p.Val578=) c.1128C>T (p.Val376=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.75835520G>C | CA502049691 | UNC13D | c.672C>G (p.Val224=) c.1737C>G (p.Val579=) c.465C>G (p.Val155=) n.2007C>G c.1734C>G (p.Val578=) c.1128C>G (p.Val376=) | |
17 | g.75835520G= | CA2275706538 | UNC13D | c.672C= (p.Val224=) c.1737C= (p.Val579=) c.465C= (p.Val155=) n.2007C= c.1734C= (p.Val578=) c.1128C= (p.Val376=) | |
17 | g.75835520G>T | CA502049690 | UNC13D | c.672C>A (p.Val224=) c.1737C>A (p.Val579=) c.465C>A (p.Val155=) n.2007C>A c.1734C>A (p.Val578=) c.1128C>A (p.Val376=) | dbSNP |
17 | g.75835521A>C | CA401093125 | UNC13D | c.671T>G (p.Val224Gly) c.1736T>G (p.Val579Gly) c.464T>G (p.Val155Gly) n.2006T>G c.1733T>G (p.Val578Gly) c.1127T>G (p.Val376Gly) | |
17 | g.75835521A>G | CA401093140 | UNC13D | c.671T>C (p.Val224Ala) c.1736T>C (p.Val579Ala) c.464T>C (p.Val155Ala) n.2006T>C c.1733T>C (p.Val578Ala) c.1127T>C (p.Val376Ala) | gnomAD v4 |
17 | g.75835521A>T | CA401093144 | UNC13D | c.671T>A (p.Val224Asp) c.1736T>A (p.Val579Asp) c.464T>A (p.Val155Asp) n.2006T>A c.1733T>A (p.Val578Asp) c.1127T>A (p.Val376Asp) | |
17 | g.75835522C>A | CA401093162 | UNC13D | c.670G>T (p.Val224Phe) c.1735G>T (p.Val579Phe) c.463G>T (p.Val155Phe) n.2005G>T c.1732G>T (p.Val578Phe) c.1126G>T (p.Val376Phe) | |
17 | g.75835522C>G | CA401093169 | UNC13D | c.670G>C (p.Val224Leu) c.1735G>C (p.Val579Leu) c.463G>C (p.Val155Leu) n.2005G>C c.1732G>C (p.Val578Leu) c.1126G>C (p.Val376Leu) | |
17 | g.75835522C>T | CA401093166 | UNC13D | c.670G>A (p.Val224Ile) c.1735G>A (p.Val579Ile) c.463G>A (p.Val155Ile) n.2005G>A c.1732G>A (p.Val578Ile) c.1126G>A (p.Val376Ile) | |
17 | g.75835523T>A | CA502049699 | UNC13D | c.669A>T (p.Gly223=) c.1734A>T (p.Gly578=) c.462A>T (p.Gly154=) n.2004A>T c.1731A>T (p.Gly577=) c.1125A>T (p.Gly375=) | |
17 | g.75835523T>C | CA502049700 | UNC13D | c.669A>G (p.Gly223=) c.1734A>G (p.Gly578=) c.462A>G (p.Gly154=) n.2004A>G c.1731A>G (p.Gly577=) c.1125A>G (p.Gly375=) | |
17 | g.75835523T>G | CA502049701 | UNC13D | c.669A>C (p.Gly223=) c.1734A>C (p.Gly578=) c.462A>C (p.Gly154=) n.2004A>C c.1731A>C (p.Gly577=) c.1125A>C (p.Gly375=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.75835523T= | CA2275706539 | UNC13D | c.669A= (p.Gly223=) c.1734A= (p.Gly578=) c.462A= (p.Gly154=) n.2004A= c.1731A= (p.Gly577=) c.1125A= (p.Gly375=) | |
17 | g.75835524C>A | CA401093185 | UNC13D | c.668G>T (p.Gly223Val) c.1733G>T (p.Gly578Val) c.461G>T (p.Gly154Val) n.2003G>T c.1730G>T (p.Gly577Val) c.1124G>T (p.Gly375Val) | |
17 | g.75835524C>G | CA401093196 | UNC13D | c.668G>C (p.Gly223Ala) c.1733G>C (p.Gly578Ala) c.461G>C (p.Gly154Ala) n.2003G>C c.1730G>C (p.Gly577Ala) c.1124G>C (p.Gly375Ala) | gnomAD v4 |
17 | g.75835524C>T | CA401093201 | UNC13D | c.668G>A (p.Gly223Glu) c.1733G>A (p.Gly578Glu) c.461G>A (p.Gly154Glu) n.2003G>A c.1730G>A (p.Gly577Glu) c.1124G>A (p.Gly375Glu) | |
17 | g.75835525C>A | CA401093204 | UNC13D | c.667G>T (p.Gly223Ter) c.1732G>T (p.Gly578Ter) c.460G>T (p.Gly154Ter) n.2002G>T c.1729G>T (p.Gly577Ter) c.1123G>T (p.Gly375Ter) | |
17 | g.75835525C>G | CA401093205 | UNC13D | c.667G>C (p.Gly223Arg) c.1732G>C (p.Gly578Arg) c.460G>C (p.Gly154Arg) n.2002G>C c.1729G>C (p.Gly577Arg) c.1123G>C (p.Gly375Arg) | |
17 | g.75835525C>T | CA401093208 | UNC13D | c.667G>A (p.Gly223Arg) c.1732G>A (p.Gly578Arg) c.460G>A (p.Gly154Arg) n.2002G>A c.1729G>A (p.Gly577Arg) c.1123G>A (p.Gly375Arg) | |
17 | g.75835526A= | CA2275706540 | UNC13D | c.666T= (p.Asp222=) c.1731T= (p.Asp577=) c.459T= (p.Asp153=) n.2001T= c.1728T= (p.Asp576=) c.1122T= (p.Asp374=) | |
17 | g.75835526A>C | CA401093211 | UNC13D | c.666T>G (p.Asp222Glu) c.1731T>G (p.Asp577Glu) c.459T>G (p.Asp153Glu) n.2001T>G c.1728T>G (p.Asp576Glu) c.1122T>G (p.Asp374Glu) | |
17 | g.75835526A>G | CA502049709 | UNC13D | c.666T>C (p.Asp222=) c.1731T>C (p.Asp577=) c.459T>C (p.Asp153=) n.2001T>C c.1728T>C (p.Asp576=) c.1122T>C (p.Asp374=) | |
17 | g.75835526A>T | CA401093216 | UNC13D | c.666T>A (p.Asp222Glu) c.1731T>A (p.Asp577Glu) c.459T>A (p.Asp153Glu) n.2001T>A c.1728T>A (p.Asp576Glu) c.1122T>A (p.Asp374Glu) | |
17 | g.75835527T>A | CA401093227 | UNC13D | c.665A>T (p.Asp222Val) c.1730A>T (p.Asp577Val) c.458A>T (p.Asp153Val) n.2000A>T c.1727A>T (p.Asp576Val) c.1121A>T (p.Asp374Val) | |
17 | g.75835527T>C | CA401093231 | UNC13D | c.665A>G (p.Asp222Gly) c.1730A>G (p.Asp577Gly) c.458A>G (p.Asp153Gly) n.2000A>G c.1727A>G (p.Asp576Gly) c.1121A>G (p.Asp374Gly) | |
17 | g.75835527T>G | CA294086746 | UNC13D | c.665A>C (p.Asp222Ala) c.1730A>C (p.Asp577Ala) c.458A>C (p.Asp153Ala) n.2000A>C c.1727A>C (p.Asp576Ala) c.1121A>C (p.Asp374Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835527T= | CA2275706543 | UNC13D | c.665A= (p.Asp222=) c.1730A= (p.Asp577=) c.458A= (p.Asp153=) n.2000A= c.1727A= (p.Asp576=) c.1121A= (p.Asp374=) | |
17 | g.75835527_75835528delinsTC | CA2275706542 | UNC13D | c.664_665delinsGA (p.Asp222=) c.1729_1730delinsGA (p.Asp577=) c.457_458delinsGA (p.Asp153=) n.1999_2000delinsGA c.1726_1727delinsGA (p.Asp576=) c.1120_1121delinsGA (p.Asp374=) | |
17 | g.75835527_75835531dup | CA2275706541 | UNC13D | c.663-2_665dup c.1728-2_1730dup c.456-2_458dup n.1998-2_2000dup c.1725-2_1727dup c.1119-2_1121dup | dbSNP |
17 | g.75835528C>A | CA401093257 | UNC13D | c.664G>T (p.Asp222Tyr) c.1729G>T (p.Asp577Tyr) c.457G>T (p.Asp153Tyr) n.1999G>T c.1726G>T (p.Asp576Tyr) c.1120G>T (p.Asp374Tyr) | |
17 | g.75835528C= | CA2275706545 | UNC13D | c.664G= (p.Asp222=) c.1729G= (p.Asp577=) c.457G= (p.Asp153=) n.1999G= c.1726G= (p.Asp576=) c.1120G= (p.Asp374=) | |
17 | g.75835528C>G | CA401093261 | UNC13D | c.664G>C (p.Asp222His) c.1729G>C (p.Asp577His) c.457G>C (p.Asp153His) n.1999G>C c.1726G>C (p.Asp576His) c.1120G>C (p.Asp374His) | |
17 | g.75835528C>T | CA401093258 | UNC13D | c.664G>A (p.Asp222Asn) c.1729G>A (p.Asp577Asn) c.457G>A (p.Asp153Asn) n.1999G>A c.1726G>A (p.Asp576Asn) c.1120G>A (p.Asp374Asn) | dbSNP gnomAD v4 |
17 | g.75835530del | CA2275706544 | UNC13D | c.664del c.1729del c.457del n.1999del c.1726del c.1120del | dbSNP |
17 | g.75835529C>A | CA401093268 | UNC13D | c.663G>T (p.Arg221Ser) c.1728G>T (p.Arg576Ser) c.456G>T (p.Arg152Ser) n.1998G>T c.1725G>T (p.Arg575Ser) c.1119G>T (p.Arg373Ser) | |
17 | g.75835529C>G | CA401093270 | UNC13D | c.663G>C (p.Arg221Ser) c.1728G>C (p.Arg576Ser) c.456G>C (p.Arg152Ser) n.1998G>C c.1725G>C (p.Arg575Ser) c.1119G>C (p.Arg373Ser) | |
17 | g.75835529C>T | CA502049715 | UNC13D | c.663G>A (p.Arg221=) c.1728G>A (p.Arg576=) c.456G>A (p.Arg152=) n.1998G>A c.1725G>A (p.Arg575=) c.1119G>A (p.Arg373=) | |
17 | g.75835530C>A | CA401093273 | UNC13D | c.663-1G>T (n.663-1G>T) c.1728-1G>T (n.1728-1G>T) c.456-1G>T (n.456-1G>T) n.1998-1G>T c.1725-1G>T (n.1725-1G>T) c.1119-1G>T (n.1119-1G>T) | |
17 | g.75835530C>G | CA401093278 | UNC13D | c.663-1G>C (n.663-1G>C) c.1728-1G>C (n.1728-1G>C) c.456-1G>C (n.456-1G>C) n.1998-1G>C c.1725-1G>C (n.1725-1G>C) c.1119-1G>C (n.1119-1G>C) | |
17 | g.75835530C>T | CA401093288 | UNC13D | c.663-1G>A (n.663-1G>A) c.1728-1G>A (n.1728-1G>A) c.456-1G>A (n.456-1G>A) n.1998-1G>A c.1725-1G>A (n.1725-1G>A) c.1119-1G>A (n.1119-1G>A) | |
17 | g.75835531T>A | CA401093294 | UNC13D | c.663-2A>T (n.663-2A>T) c.1728-2A>T (n.1728-2A>T) c.456-2A>T (n.456-2A>T) n.1998-2A>T c.1725-2A>T (n.1725-2A>T) c.1119-2A>T (n.1119-2A>T) | |
17 | g.75835531T>C | CA401093295 | UNC13D | c.663-2A>G (n.663-2A>G) c.1728-2A>G (n.1728-2A>G) c.456-2A>G (n.456-2A>G) n.1998-2A>G c.1725-2A>G (n.1725-2A>G) c.1119-2A>G (n.1119-2A>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.75835531T>G | CA401093296 | UNC13D | c.663-2A>C (n.663-2A>C) c.1728-2A>C (n.1728-2A>C) c.456-2A>C (n.456-2A>C) n.1998-2A>C c.1725-2A>C (n.1725-2A>C) c.1119-2A>C (n.1119-2A>C) | ClinVar |
17 | g.75835531T= | CA2275706546 | UNC13D | c.663-2A= (n.663-2A=) c.1728-2A= (n.1728-2A=) c.456-2A= (n.456-2A=) n.1998-2A= c.1725-2A= (n.1725-2A=) c.1119-2A= (n.1119-2A=) | |
17 | g.75835532G>A | CA627596529 | UNC13D | c.663-3C>T (n.663-3C>T) c.1728-3C>T (n.1728-3C>T) c.456-3C>T (n.456-3C>T) n.1998-3C>T c.1725-3C>T (n.1725-3C>T) c.1119-3C>T (n.1119-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.75835532G= | CA2275706547 | UNC13D | c.663-3C= (n.663-3C=) c.1728-3C= (n.1728-3C=) c.456-3C= (n.456-3C=) n.1998-3C= c.1725-3C= (n.1725-3C=) c.1119-3C= (n.1119-3C=) | |
17 | g.75835532G>T | CA2639895825 | UNC13D | c.663-3C>A (n.663-3C>A) c.1728-3C>A (n.1728-3C>A) c.456-3C>A (n.456-3C>A) n.1998-3C>A c.1725-3C>A (n.1725-3C>A) c.1119-3C>A (n.1119-3C>A) | dbSNP gnomAD v4 |
17 | g.75835533G>A | CA2580095175 | UNC13D | c.663-4C>T (n.663-4C>T) c.1728-4C>T (n.1728-4C>T) c.456-4C>T (n.456-4C>T) n.1998-4C>T c.1725-4C>T (n.1725-4C>T) c.1119-4C>T (n.1119-4C>T) | ClinVar |
17 | g.75835533G= | CA2275706548 | UNC13D | c.663-4C= (n.663-4C=) c.1728-4C= (n.1728-4C=) c.456-4C= (n.456-4C=) n.1998-4C= c.1725-4C= (n.1725-4C=) c.1119-4C= (n.1119-4C=) | |
17 | g.75835533G>T | CA627596530 | UNC13D | c.663-4C>A (n.663-4C>A) c.1728-4C>A (n.1728-4C>A) c.456-4C>A (n.456-4C>A) n.1998-4C>A c.1725-4C>A (n.1725-4C>A) c.1119-4C>A (n.1119-4C>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.75835534G>A | CA2739268426 | UNC13D | c.663-5C>T (n.663-5C>T) c.1728-5C>T (n.1728-5C>T) c.456-5C>T (n.456-5C>T) n.1998-5C>T c.1725-5C>T (n.1725-5C>T) c.1119-5C>T (n.1119-5C>T) | ClinVar |
17 | g.75835535G>A | CA2639895828 | UNC13D | c.663-6C>T (n.663-6C>T) c.1728-6C>T (n.1728-6C>T) c.456-6C>T (n.456-6C>T) n.1998-6C>T c.1725-6C>T (n.1725-6C>T) c.1119-6C>T (n.1119-6C>T) | gnomAD v4 |
17 | g.75835535G>T | CA2639895827 | UNC13D | c.663-6C>A (n.663-6C>A) c.1728-6C>A (n.1728-6C>A) c.456-6C>A (n.456-6C>A) n.1998-6C>A c.1725-6C>A (n.1725-6C>A) c.1119-6C>A (n.1119-6C>A) | gnomAD v4 |
17 | g.75835537T>C | CA627596531 | UNC13D | c.663-8A>G (n.663-8A>G) c.1728-8A>G (n.1728-8A>G) c.456-8A>G (n.456-8A>G) n.1998-8A>G c.1725-8A>G (n.1725-8A>G) c.1119-8A>G (n.1119-8A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835537T= | CA2275706549 | UNC13D | c.663-8A= (n.663-8A=) c.1728-8A= (n.1728-8A=) c.456-8A= (n.456-8A=) n.1998-8A= c.1725-8A= (n.1725-8A=) c.1119-8A= (n.1119-8A=) | |
17 | g.75835539G= | CA2275706550 | UNC13D | c.663-10C= (n.663-10C=) c.1728-10C= (n.1728-10C=) c.456-10C= (n.456-10C=) n.1998-10C= c.1725-10C= (n.1725-10C=) c.1119-10C= (n.1119-10C=) | |
17 | g.75835539G>T | CA8772824 | UNC13D | c.663-10C>A (n.663-10C>A) c.1728-10C>A (n.1728-10C>A) c.456-10C>A (n.456-10C>A) n.1998-10C>A c.1725-10C>A (n.1725-10C>A) c.1119-10C>A (n.1119-10C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835540C>A | CA2639895832 | UNC13D | c.663-11G>T (n.663-11G>T) c.1728-11G>T (n.1728-11G>T) c.456-11G>T (n.456-11G>T) n.1998-11G>T c.1725-11G>T (n.1725-11G>T) c.1119-11G>T (n.1119-11G>T) | gnomAD v4 |
17 | g.75835540C= | CA2275706551 | UNC13D | c.663-11G= (n.663-11G=) c.1728-11G= (n.1728-11G=) c.456-11G= (n.456-11G=) n.1998-11G= c.1725-11G= (n.1725-11G=) c.1119-11G= (n.1119-11G=) | |
17 | g.75835540C>T | CA8772825 | UNC13D | c.663-11G>A (n.663-11G>A) c.1728-11G>A (n.1728-11G>A) c.456-11G>A (n.456-11G>A) n.1998-11G>A c.1725-11G>A (n.1725-11G>A) c.1119-11G>A (n.1119-11G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.75835541C>A | CA2639895836 | UNC13D | c.663-12G>T (n.663-12G>T) c.1728-12G>T (n.1728-12G>T) c.456-12G>T (n.456-12G>T) n.1998-12G>T c.1725-12G>T (n.1725-12G>T) c.1119-12G>T (n.1119-12G>T) | gnomAD v4 |
17 | g.75835541C= | CA2275706552 | UNC13D | c.663-12G= (n.663-12G=) c.1728-12G= (n.1728-12G=) c.456-12G= (n.456-12G=) n.1998-12G= c.1725-12G= (n.1725-12G=) c.1119-12G= (n.1119-12G=) | |
17 | g.75835541C>G | CA2697555183 | UNC13D | c.663-12G>C (n.663-12G>C) c.1728-12G>C (n.1728-12G>C) c.456-12G>C (n.456-12G>C) n.1998-12G>C c.1725-12G>C (n.1725-12G>C) c.1119-12G>C (n.1119-12G>C) | ClinVar |
17 | g.75835541C>T | CA8772826 | UNC13D | c.663-12G>A (n.663-12G>A) c.1728-12G>A (n.1728-12G>A) c.456-12G>A (n.456-12G>A) n.1998-12G>A c.1725-12G>A (n.1725-12G>A) c.1119-12G>A (n.1119-12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835542G>A | CA8772827 | UNC13D | c.663-13C>T (n.663-13C>T) c.1728-13C>T (n.1728-13C>T) c.456-13C>T (n.456-13C>T) n.1998-13C>T c.1725-13C>T (n.1725-13C>T) c.1119-13C>T (n.1119-13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835542G>C | CA8772828 | UNC13D | c.663-13C>G (n.663-13C>G) c.1728-13C>G (n.1728-13C>G) c.456-13C>G (n.456-13C>G) n.1998-13C>G c.1725-13C>G (n.1725-13C>G) c.1119-13C>G (n.1119-13C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835542G= | CA2275706553 | UNC13D | c.663-13C= (n.663-13C=) c.1728-13C= (n.1728-13C=) c.456-13C= (n.456-13C=) n.1998-13C= c.1725-13C= (n.1725-13C=) c.1119-13C= (n.1119-13C=) | |
17 | g.75835542G>T | CA2639895840 | UNC13D | c.663-13C>A (n.663-13C>A) c.1728-13C>A (n.1728-13C>A) c.456-13C>A (n.456-13C>A) n.1998-13C>A c.1725-13C>A (n.1725-13C>A) c.1119-13C>A (n.1119-13C>A) | gnomAD v4 |
17 | g.75835545del | CA2639895838 | UNC13D | c.663-13del (n.663-13del) c.1728-13del (n.1728-13del) c.456-13del (n.456-13del) n.1998-13del c.1725-13del (n.1725-13del) c.1119-13del (n.1119-13del) | gnomAD v4 |
17 | g.75835543G>T | CA2639895842 | UNC13D | c.663-14C>A (n.663-14C>A) c.1728-14C>A (n.1728-14C>A) c.456-14C>A (n.456-14C>A) n.1998-14C>A c.1725-14C>A (n.1725-14C>A) c.1119-14C>A (n.1119-14C>A) | gnomAD v4 |
17 | g.75835544G>A | CA2576393022 | UNC13D | c.663-15C>T (n.663-15C>T) c.1728-15C>T (n.1728-15C>T) c.456-15C>T (n.456-15C>T) n.1998-15C>T c.1725-15C>T (n.1725-15C>T) c.1119-15C>T (n.1119-15C>T) | |
17 | g.75835544G>T | CA2639895844 | UNC13D | c.663-15C>A (n.663-15C>A) c.1728-15C>A (n.1728-15C>A) c.456-15C>A (n.456-15C>A) n.1998-15C>A c.1725-15C>A (n.1725-15C>A) c.1119-15C>A (n.1119-15C>A) | ClinVar gnomAD v4 |
17 | g.75835545G>A | CA2639895846 | UNC13D | c.663-16C>T (n.663-16C>T) c.1728-16C>T (n.1728-16C>T) c.456-16C>T (n.456-16C>T) n.1998-16C>T c.1725-16C>T (n.1725-16C>T) c.1119-16C>T (n.1119-16C>T) | gnomAD v4 |
17 | g.75835548C>T | CA2639895847 | UNC13D | c.663-19G>A (n.663-19G>A) c.1728-19G>A (n.1728-19G>A) c.456-19G>A (n.456-19G>A) n.1998-19G>A c.1725-19G>A (n.1725-19G>A) c.1119-19G>A (n.1119-19G>A) | gnomAD v4 |
17 | g.75835549A>G | CA2810453274 | UNC13D | c.663-20T>C (n.663-20T>C) c.1728-20T>C (n.1728-20T>C) c.456-20T>C (n.456-20T>C) n.1998-20T>C c.1725-20T>C (n.1725-20T>C) c.1119-20T>C (n.1119-20T>C) | |
17 | g.75835550G= | CA2275706554 | UNC13D | c.663-21C= (n.663-21C=) c.1728-21C= (n.1728-21C=) c.456-21C= (n.456-21C=) n.1998-21C= c.1725-21C= (n.1725-21C=) c.1119-21C= (n.1119-21C=) | |
17 | g.75835550G>T | CA627596532 | UNC13D | c.663-21C>A (n.663-21C>A) c.1728-21C>A (n.1728-21C>A) c.456-21C>A (n.456-21C>A) n.1998-21C>A c.1725-21C>A (n.1725-21C>A) c.1119-21C>A (n.1119-21C>A) | dbSNP gnomAD v2 |
17 | g.75835551C>A | CA2639895850 | UNC13D | c.663-22G>T (n.663-22G>T) c.1728-22G>T (n.1728-22G>T) c.456-22G>T (n.456-22G>T) n.1998-22G>T c.1725-22G>T (n.1725-22G>T) c.1119-22G>T (n.1119-22G>T) | gnomAD v4 |
17 | g.75835551C= | CA2275706555 | UNC13D | c.663-22G= (n.663-22G=) c.1728-22G= (n.1728-22G=) c.456-22G= (n.456-22G=) n.1998-22G= c.1725-22G= (n.1725-22G=) c.1119-22G= (n.1119-22G=) | |
17 | g.75835551C>T | CA8772829 | UNC13D | c.663-22G>A (n.663-22G>A) c.1728-22G>A (n.1728-22G>A) c.456-22G>A (n.456-22G>A) n.1998-22G>A c.1725-22G>A (n.1725-22G>A) c.1119-22G>A (n.1119-22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835552G>A | CA8772830 | UNC13D | c.663-23C>T (n.663-23C>T) c.1728-23C>T (n.1728-23C>T) c.456-23C>T (n.456-23C>T) n.1998-23C>T c.1725-23C>T (n.1725-23C>T) c.1119-23C>T (n.1119-23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835552G>C | CA2581328471 | UNC13D | c.663-23C>G (n.663-23C>G) c.1728-23C>G (n.1728-23C>G) c.456-23C>G (n.456-23C>G) n.1998-23C>G c.1725-23C>G (n.1725-23C>G) c.1119-23C>G (n.1119-23C>G) | |
17 | g.75835552G= | CA2275706556 | UNC13D | c.663-23C= (n.663-23C=) c.1728-23C= (n.1728-23C=) c.456-23C= (n.456-23C=) n.1998-23C= c.1725-23C= (n.1725-23C=) c.1119-23C= (n.1119-23C=) | |
17 | g.75835552G>T | CA2581328472 | UNC13D | c.663-23C>A (n.663-23C>A) c.1728-23C>A (n.1728-23C>A) c.456-23C>A (n.456-23C>A) n.1998-23C>A c.1725-23C>A (n.1725-23C>A) c.1119-23C>A (n.1119-23C>A) | gnomAD v4 |
17 | g.75835553T>C | CA2639895854 | UNC13D | c.663-24A>G (n.663-24A>G) c.1728-24A>G (n.1728-24A>G) c.456-24A>G (n.456-24A>G) n.1998-24A>G c.1725-24A>G (n.1725-24A>G) c.1119-24A>G (n.1119-24A>G) | gnomAD v4 |
17 | g.75835554C>A | CA2639895857 | UNC13D | c.663-25G>T (n.663-25G>T) c.1728-25G>T (n.1728-25G>T) c.456-25G>T (n.456-25G>T) n.1998-25G>T c.1725-25G>T (n.1725-25G>T) c.1119-25G>T (n.1119-25G>T) | gnomAD v4 |
17 | g.75835554C= | CA2275706557 | UNC13D | c.663-25G= (n.663-25G=) c.1728-25G= (n.1728-25G=) c.456-25G= (n.456-25G=) n.1998-25G= c.1725-25G= (n.1725-25G=) c.1119-25G= (n.1119-25G=) | |
17 | g.75835554C>G | CA2639895858 | UNC13D | c.663-25G>C (n.663-25G>C) c.1728-25G>C (n.1728-25G>C) c.456-25G>C (n.456-25G>C) n.1998-25G>C c.1725-25G>C (n.1725-25G>C) c.1119-25G>C (n.1119-25G>C) | gnomAD v4 |
17 | g.75835554C>T | CA8772831 | UNC13D | c.663-25G>A (n.663-25G>A) c.1728-25G>A (n.1728-25G>A) c.456-25G>A (n.456-25G>A) n.1998-25G>A c.1725-25G>A (n.1725-25G>A) c.1119-25G>A (n.1119-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835555G>A | CA8772832 | UNC13D | c.663-26C>T (n.663-26C>T) c.1728-26C>T (n.1728-26C>T) c.456-26C>T (n.456-26C>T) n.1998-26C>T c.1725-26C>T (n.1725-26C>T) c.1119-26C>T (n.1119-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835555G>C | CA294086756 | UNC13D | c.663-26C>G (n.663-26C>G) c.1728-26C>G (n.1728-26C>G) c.456-26C>G (n.456-26C>G) n.1998-26C>G c.1725-26C>G (n.1725-26C>G) c.1119-26C>G (n.1119-26C>G) | dbSNP gnomAD v4 |
17 | g.75835555G= | CA2275706558 | UNC13D | c.663-26C= (n.663-26C=) c.1728-26C= (n.1728-26C=) c.456-26C= (n.456-26C=) n.1998-26C= c.1725-26C= (n.1725-26C=) c.1119-26C= (n.1119-26C=) | |
17 | g.75835555G>T | CA2639895863 | UNC13D | c.663-26C>A (n.663-26C>A) c.1728-26C>A (n.1728-26C>A) c.456-26C>A (n.456-26C>A) n.1998-26C>A c.1725-26C>A (n.1725-26C>A) c.1119-26C>A (n.1119-26C>A) | gnomAD v4 |
17 | g.75835556G>A | CA627596533 | UNC13D | c.663-27C>T (n.663-27C>T) c.1728-27C>T (n.1728-27C>T) c.456-27C>T (n.456-27C>T) n.1998-27C>T c.1725-27C>T (n.1725-27C>T) c.1119-27C>T (n.1119-27C>T) | dbSNP gnomAD v2 |
17 | g.75835556G>C | CA8772833 | UNC13D | c.663-27C>G (n.663-27C>G) c.1728-27C>G (n.1728-27C>G) c.456-27C>G (n.456-27C>G) n.1998-27C>G c.1725-27C>G (n.1725-27C>G) c.1119-27C>G (n.1119-27C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75835556G= | CA2275706559 | UNC13D | c.663-27C= (n.663-27C=) c.1728-27C= (n.1728-27C=) c.456-27C= (n.456-27C=) n.1998-27C= c.1725-27C= (n.1725-27C=) c.1119-27C= (n.1119-27C=) | |
17 | g.75835556G>T | CA2639895864 | UNC13D | c.663-27C>A (n.663-27C>A) c.1728-27C>A (n.1728-27C>A) c.456-27C>A (n.456-27C>A) n.1998-27C>A c.1725-27C>A (n.1725-27C>A) c.1119-27C>A (n.1119-27C>A) | gnomAD v4 |
17 | g.75835557G>A | CA294086760 | UNC13D | c.663-28C>T (n.663-28C>T) c.1728-28C>T (n.1728-28C>T) c.456-28C>T (n.456-28C>T) n.1998-28C>T c.1725-28C>T (n.1725-28C>T) c.1119-28C>T (n.1119-28C>T) | dbSNP |
17 | g.75835557G= | CA2275706560 | UNC13D | c.663-28C= (n.663-28C=) c.1728-28C= (n.1728-28C=) c.456-28C= (n.456-28C=) n.1998-28C= c.1725-28C= (n.1725-28C=) c.1119-28C= (n.1119-28C=) | |
17 | g.75835557G>T | CA627596534 | UNC13D | c.663-28C>A (n.663-28C>A) c.1728-28C>A (n.1728-28C>A) c.456-28C>A (n.456-28C>A) n.1998-28C>A c.1725-28C>A (n.1725-28C>A) c.1119-28C>A (n.1119-28C>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.75835558A>G | CA2639895868 | UNC13D | c.663-29T>C (n.663-29T>C) c.1728-29T>C (n.1728-29T>C) c.456-29T>C (n.456-29T>C) n.1998-29T>C c.1725-29T>C (n.1725-29T>C) c.1119-29T>C (n.1119-29T>C) | gnomAD v4 |
17 | g.75835560G>A | CA8772834 | UNC13D | c.663-31C>T (n.663-31C>T) c.1728-31C>T (n.1728-31C>T) c.456-31C>T (n.456-31C>T) n.1998-31C>T c.1725-31C>T (n.1725-31C>T) c.1119-31C>T (n.1119-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.75835560G= | CA2275706561 | UNC13D | c.663-31C= (n.663-31C=) c.1728-31C= (n.1728-31C=) c.456-31C= (n.456-31C=) n.1998-31C= c.1725-31C= (n.1725-31C=) c.1119-31C= (n.1119-31C=) |