| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.75836238A= | CA2275706896 | UNC13D | c.343T= (p.Phe115=) c.585T= c.1408T= (p.Phe470=) c.136T= (p.Phe46=) c.527T= n.1678T= c.1405T= (p.Phe469=) c.799T= (p.Phe267=) | |
| 17 | g.75836238A>C | CA401098813 | UNC13D | c.343T>G (p.Phe115Val) c.585T>G c.1408T>G (p.Phe470Val) c.136T>G (p.Phe46Val) c.527T>G n.1678T>G c.1405T>G (p.Phe469Val) c.799T>G (p.Phe267Val) | dbSNP gnomAD v4 |
| 17 | g.75836238A>G | CA10640592 | UNC13D | c.343T>C (p.Phe115Leu) c.585T>C c.1408T>C (p.Phe470Leu) c.136T>C (p.Phe46Leu) c.527T>C n.1678T>C c.1405T>C (p.Phe469Leu) c.799T>C (p.Phe267Leu) | ClinVar dbSNP |
| 17 | g.75836238A>T | CA401098822 | UNC13D | c.343T>A (p.Phe115Ile) c.585T>A c.1408T>A (p.Phe470Ile) c.136T>A (p.Phe46Ile) c.527T>A n.1678T>A c.1405T>A (p.Phe469Ile) c.799T>A (p.Phe267Ile) | |
| 17 | g.75836239C>A | CA401098829 | UNC13D | c.342G>T (p.Trp114Cys) c.584G>T c.1407G>T (p.Trp469Cys) c.135G>T (p.Trp45Cys) c.526G>T n.1677G>T c.1404G>T (p.Trp468Cys) c.798G>T (p.Trp266Cys) | |
| 17 | g.75836239C= | CA2275706897 | UNC13D | c.342G= (p.Trp114=) c.584G= c.1407G= (p.Trp469=) c.135G= (p.Trp45=) c.526G= n.1677G= c.1404G= (p.Trp468=) c.798G= (p.Trp266=) | |
| 17 | g.75836239C>G | CA401098836 | UNC13D | c.342G>C (p.Trp114Cys) c.584G>C c.1407G>C (p.Trp469Cys) c.135G>C (p.Trp45Cys) c.526G>C n.1677G>C c.1404G>C (p.Trp468Cys) c.798G>C (p.Trp266Cys) | dbSNP |
| 17 | g.75836239C>T | CA401098840 | UNC13D | c.342G>A (p.Trp114Ter) c.584G>A c.1407G>A (p.Trp469Ter) c.135G>A (p.Trp45Ter) c.526G>A n.1677G>A c.1404G>A (p.Trp468Ter) c.798G>A (p.Trp266Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.75836240C>A | CA401098850 | UNC13D | c.341G>T (p.Trp114Leu) c.583G>T c.1406G>T (p.Trp469Leu) c.134G>T (p.Trp45Leu) c.525G>T n.1676G>T c.1403G>T (p.Trp468Leu) c.797G>T (p.Trp266Leu) | |
| 17 | g.75836240C>G | CA401098844 | UNC13D | c.341G>C (p.Trp114Ser) c.583G>C c.1406G>C (p.Trp469Ser) c.134G>C (p.Trp45Ser) c.525G>C n.1676G>C c.1403G>C (p.Trp468Ser) c.797G>C (p.Trp266Ser) | |
| 17 | g.75836240C>T | CA401098847 | UNC13D | c.341G>A (p.Trp114Ter) c.583G>A c.1406G>A (p.Trp469Ter) c.134G>A (p.Trp45Ter) c.525G>A n.1676G>A c.1403G>A (p.Trp468Ter) c.797G>A (p.Trp266Ter) | |
| 17 | g.75836241A>C | CA401098854 | UNC13D | c.340T>G (p.Trp114Gly) c.582T>G c.1405T>G (p.Trp469Gly) c.133T>G (p.Trp45Gly) c.524T>G n.1675T>G c.1402T>G (p.Trp468Gly) c.796T>G (p.Trp266Gly) | |
| 17 | g.75836241A>G | CA401098857 | UNC13D | c.340T>C (p.Trp114Arg) c.582T>C c.1405T>C (p.Trp469Arg) c.133T>C (p.Trp45Arg) c.524T>C n.1675T>C c.1402T>C (p.Trp468Arg) c.796T>C (p.Trp266Arg) | |
| 17 | g.75836241A>T | CA401098859 | UNC13D | c.340T>A (p.Trp114Arg) c.582T>A c.1405T>A (p.Trp469Arg) c.133T>A (p.Trp45Arg) c.524T>A n.1675T>A c.1402T>A (p.Trp468Arg) c.796T>A (p.Trp266Arg) | |
| 17 | g.75836242T>A | CA401098864 | UNC13D | c.339A>T (p.Glu113Asp) c.581A>T c.1404A>T (p.Glu468Asp) c.132A>T (p.Glu44Asp) c.523A>T n.1674A>T c.1401A>T (p.Glu467Asp) c.795A>T (p.Glu265Asp) | |
| 17 | g.75836242T>C | CA502050230 | UNC13D | c.339A>G (p.Glu113=) c.581A>G c.1404A>G (p.Glu468=) c.132A>G (p.Glu44=) c.523A>G n.1674A>G c.1401A>G (p.Glu467=) c.795A>G (p.Glu265=) | |
| 17 | g.75836242T>G | CA401098867 | UNC13D | c.339A>C (p.Glu113Asp) c.581A>C c.1404A>C (p.Glu468Asp) c.132A>C (p.Glu44Asp) c.523A>C n.1674A>C c.1401A>C (p.Glu467Asp) c.795A>C (p.Glu265Asp) | |
| 17 | g.75836243T>A | CA401098874 | UNC13D | c.338A>T (p.Glu113Val) c.580A>T c.1403A>T (p.Glu468Val) c.131A>T (p.Glu44Val) c.522A>T n.1673A>T c.1400A>T (p.Glu467Val) c.794A>T (p.Glu265Val) | |
| 17 | g.75836243T>C | CA401098886 | UNC13D | c.338A>G (p.Glu113Gly) c.580A>G c.1403A>G (p.Glu468Gly) c.131A>G (p.Glu44Gly) c.522A>G n.1673A>G c.1400A>G (p.Glu467Gly) c.794A>G (p.Glu265Gly) | |
| 17 | g.75836243T>G | CA401098876 | UNC13D | c.338A>C (p.Glu113Ala) c.580A>C c.1403A>C (p.Glu468Ala) c.131A>C (p.Glu44Ala) c.522A>C n.1673A>C c.1400A>C (p.Glu467Ala) c.794A>C (p.Glu265Ala) | |
| 17 | g.75836244C>A | CA401098893 | UNC13D | c.337G>T (p.Glu113Ter) c.579G>T c.1402G>T (p.Glu468Ter) c.130G>T (p.Glu44Ter) c.521G>T n.1672G>T c.1399G>T (p.Glu467Ter) c.793G>T (p.Glu265Ter) | |
| 17 | g.75836244C>G | CA401098896 | UNC13D | c.337G>C (p.Glu113Gln) c.579G>C c.1402G>C (p.Glu468Gln) c.130G>C (p.Glu44Gln) c.521G>C n.1672G>C c.1399G>C (p.Glu467Gln) c.793G>C (p.Glu265Gln) | |
| 17 | g.75836244C>T | CA401098900 | UNC13D | c.337G>A (p.Glu113Lys) c.579G>A c.1402G>A (p.Glu468Lys) c.130G>A (p.Glu44Lys) c.521G>A n.1672G>A c.1399G>A (p.Glu467Lys) c.793G>A (p.Glu265Lys) | |
| 17 | g.75836245A>C | CA502050236 | UNC13D | c.336T>G (p.Thr112=) c.578T>G c.1401T>G (p.Thr467=) c.129T>G (p.Thr43=) c.520T>G n.1671T>G c.1398T>G (p.Thr466=) c.792T>G (p.Thr264=) | |
| 17 | g.75836245A>G | CA502050243 | UNC13D | c.336T>C (p.Thr112=) c.578T>C c.1401T>C (p.Thr467=) c.129T>C (p.Thr43=) c.520T>C n.1671T>C c.1398T>C (p.Thr466=) c.792T>C (p.Thr264=) | gnomAD v4 |
| 17 | g.75836245A>T | CA502050246 | UNC13D | c.336T>A (p.Thr112=) c.578T>A c.1401T>A (p.Thr467=) c.129T>A (p.Thr43=) c.520T>A n.1671T>A c.1398T>A (p.Thr466=) c.792T>A (p.Thr264=) | |
| 17 | g.75836246G>A | CA401098903 | UNC13D | c.335C>T (p.Thr112Ile) c.577C>T c.1400C>T (p.Thr467Ile) c.128C>T (p.Thr43Ile) c.519C>T n.1670C>T c.1397C>T (p.Thr466Ile) c.791C>T (p.Thr264Ile) | gnomAD v4 |
| 17 | g.75836246G>C | CA401098906 | UNC13D | c.335C>G (p.Thr112Ser) c.577C>G c.1400C>G (p.Thr467Ser) c.128C>G (p.Thr43Ser) c.519C>G n.1670C>G c.1397C>G (p.Thr466Ser) c.791C>G (p.Thr264Ser) | |
| 17 | g.75836246G= | CA2275706898 | UNC13D | c.335C= (p.Thr112=) c.577C= c.1400C= (p.Thr467=) c.128C= (p.Thr43=) c.519C= n.1670C= c.1397C= (p.Thr466=) c.791C= (p.Thr264=) | |
| 17 | g.75836246G>T | CA401098918 | UNC13D | c.335C>A (p.Thr112Asn) c.577C>A c.1400C>A (p.Thr467Asn) c.128C>A (p.Thr43Asn) c.519C>A n.1670C>A c.1397C>A (p.Thr466Asn) c.791C>A (p.Thr264Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.75836247T>A | CA401098922 | UNC13D | c.334A>T (p.Thr112Ser) c.576A>T c.1399A>T (p.Thr467Ser) c.127A>T (p.Thr43Ser) c.518A>T n.1669A>T c.1396A>T (p.Thr466Ser) c.790A>T (p.Thr264Ser) | |
| 17 | g.75836247T>C | CA401098928 | UNC13D | c.334A>G (p.Thr112Ala) c.576A>G c.1399A>G (p.Thr467Ala) c.127A>G (p.Thr43Ala) c.518A>G n.1669A>G c.1396A>G (p.Thr466Ala) c.790A>G (p.Thr264Ala) | |
| 17 | g.75836247T>G | CA401098932 | UNC13D | c.334A>C (p.Thr112Pro) c.576A>C c.1399A>C (p.Thr467Pro) c.127A>C (p.Thr43Pro) c.518A>C n.1669A>C c.1396A>C (p.Thr466Pro) c.790A>C (p.Thr264Pro) | |
| 17 | g.75836248G>A | CA502050254 | UNC13D | c.333C>T (p.Thr111=) c.575C>T c.1398C>T (p.Thr466=) c.126C>T (p.Thr42=) c.517C>T n.1668C>T c.1395C>T (p.Thr465=) c.789C>T (p.Thr263=) | ClinVar gnomAD v4 |
| 17 | g.75836248G>C | CA502050255 | UNC13D | c.333C>G (p.Thr111=) c.575C>G c.1398C>G (p.Thr466=) c.126C>G (p.Thr42=) c.517C>G n.1668C>G c.1395C>G (p.Thr465=) c.789C>G (p.Thr263=) | |
| 17 | g.75836248G>T | CA502050256 | UNC13D | c.333C>A (p.Thr111=) c.575C>A c.1398C>A (p.Thr466=) c.126C>A (p.Thr42=) c.517C>A n.1668C>A c.1395C>A (p.Thr465=) c.789C>A (p.Thr263=) | |
| 17 | g.75836249G>A | CA401098933 | UNC13D | c.332C>T (p.Thr111Ile) c.574C>T c.1397C>T (p.Thr466Ile) c.125C>T (p.Thr42Ile) c.516C>T n.1667C>T c.1394C>T (p.Thr465Ile) c.788C>T (p.Thr263Ile) | |
| 17 | g.75836249G>C | CA401098934 | UNC13D | c.332C>G (p.Thr111Ser) c.574C>G c.1397C>G (p.Thr466Ser) c.125C>G (p.Thr42Ser) c.516C>G n.1667C>G c.1394C>G (p.Thr465Ser) c.788C>G (p.Thr263Ser) | |
| 17 | g.75836249G>T | CA401098935 | UNC13D | c.332C>A (p.Thr111Asn) c.574C>A c.1397C>A (p.Thr466Asn) c.125C>A (p.Thr42Asn) c.516C>A n.1667C>A c.1394C>A (p.Thr465Asn) c.788C>A (p.Thr263Asn) | |
| 17 | g.75836250T>A | CA401098937 | UNC13D | c.331A>T (p.Thr111Ser) c.573A>T c.1396A>T (p.Thr466Ser) c.124A>T (p.Thr42Ser) c.515A>T n.1666A>T c.1393A>T (p.Thr465Ser) c.787A>T (p.Thr263Ser) | |
| 17 | g.75836250T>C | CA401098942 | UNC13D | c.331A>G (p.Thr111Ala) c.573A>G c.1396A>G (p.Thr466Ala) c.124A>G (p.Thr42Ala) c.515A>G n.1666A>G c.1393A>G (p.Thr465Ala) c.787A>G (p.Thr263Ala) | |
| 17 | g.75836250T>G | CA401098939 | UNC13D | c.331A>C (p.Thr111Pro) c.573A>C c.1396A>C (p.Thr466Pro) c.124A>C (p.Thr42Pro) c.515A>C n.1666A>C c.1393A>C (p.Thr465Pro) c.787A>C (p.Thr263Pro) | |
| 17 | g.75836251G>A | CA502050263 | UNC13D | c.330C>T (p.Gly110=) c.572C>T c.1395C>T (p.Gly465=) c.123C>T (p.Gly41=) c.514C>T n.1665C>T c.1392C>T (p.Gly464=) c.786C>T (p.Gly262=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.75836251G>C | CA502050265 | UNC13D | c.330C>G (p.Gly110=) c.572C>G c.1395C>G (p.Gly465=) c.123C>G (p.Gly41=) c.514C>G n.1665C>G c.1392C>G (p.Gly464=) c.786C>G (p.Gly262=) | gnomAD v4 |
| 17 | g.75836251G= | CA2275706899 | UNC13D | c.330C= (p.Gly110=) c.572C= c.1395C= (p.Gly465=) c.123C= (p.Gly41=) c.514C= n.1665C= c.1392C= (p.Gly464=) c.786C= (p.Gly262=) | |
| 17 | g.75836251G>T | CA502050268 | UNC13D | c.330C>A (p.Gly110=) c.572C>A c.1395C>A (p.Gly465=) c.123C>A (p.Gly41=) c.514C>A n.1665C>A c.1392C>A (p.Gly464=) c.786C>A (p.Gly262=) | |
| 17 | g.75836252C>A | CA401098953 | UNC13D | c.329G>T (p.Gly110Val) c.571G>T c.1394G>T (p.Gly465Val) c.122G>T (p.Gly41Val) c.513G>T n.1664G>T c.1391G>T (p.Gly464Val) c.785G>T (p.Gly262Val) | |
| 17 | g.75836252C>G | CA401098961 | UNC13D | c.329G>C (p.Gly110Ala) c.571G>C c.1394G>C (p.Gly465Ala) c.122G>C (p.Gly41Ala) c.513G>C n.1664G>C c.1391G>C (p.Gly464Ala) c.785G>C (p.Gly262Ala) | |
| 17 | g.75836252C>T | CA401098957 | UNC13D | c.329G>A (p.Gly110Asp) c.571G>A c.1394G>A (p.Gly465Asp) c.122G>A (p.Gly41Asp) c.513G>A n.1664G>A c.1391G>A (p.Gly464Asp) c.785G>A (p.Gly262Asp) | gnomAD v4 |
| 17 | g.75836253C>A | CA401098968 | UNC13D | c.328G>T (p.Gly110Cys) c.570G>T c.1393G>T (p.Gly465Cys) c.121G>T (p.Gly41Cys) c.512G>T n.1663G>T c.1390G>T (p.Gly464Cys) c.784G>T (p.Gly262Cys) |