Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.43193769_43193771delinsACC | CA1779760570 | HGSNAT | c.1390_1392delinsACC (p.Thr464=) n.323_325delinsACC c.541_543delinsACC (p.Thr181=) c.494_496delinsACC c.1198_1200delinsACC (p.Thr400=) c.526_528delinsACC (p.Thr176=) | |
8 | g.43193770_43193771del | CA581638274 | HGSNAT | c.1391_1392del (p.Thr464ArgfsTer5) n.324_325del c.542_543del (p.Thr181ArgfsTer5) c.495_496del c.1199_1200del (p.Thr400ArgfsTer5) c.527_528del (p.Thr176ArgfsTer5) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43193771C>A | CA460579097 | HGSNAT | c.1392C>A (p.Thr464=) n.325C>A c.543C>A (p.Thr181=) c.496C>A c.1200C>A (p.Thr400=) c.528C>A (p.Thr176=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
8 | g.43193771C= | CA1779760571 | HGSNAT | c.1392C= (p.Thr464=) n.325C= c.543C= (p.Thr181=) c.496C= c.1200C= (p.Thr400=) c.528C= (p.Thr176=) | |
8 | g.43193771C>G | CA460579094 | HGSNAT | c.1392C>G (p.Thr464=) n.325C>G c.543C>G (p.Thr181=) c.496C>G c.1200C>G (p.Thr400=) c.528C>G (p.Thr176=) | ClinVar dbSNP gnomAD v4 |
8 | g.43193771C>T | CA4736868 | HGSNAT | c.1392C>T (p.Thr464=) n.325C>T c.543C>T (p.Thr181=) c.496C>T c.1200C>T (p.Thr400=) c.528C>T (p.Thr176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43193772G>A | CA4736869 | HGSNAT | c.1393G>A (p.Glu465Lys) n.326G>A c.544G>A (p.Glu182Lys) c.497G>A c.1201G>A (p.Glu401Lys) c.529G>A (p.Glu177Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.43193772G>C | CA371119842 | HGSNAT | c.1393G>C (p.Glu465Gln) n.326G>C c.544G>C (p.Glu182Gln) c.497G>C c.1201G>C (p.Glu401Gln) c.529G>C (p.Glu177Gln) | |
8 | g.43193772G= | CA1779760572 | HGSNAT | c.1393G= (p.Glu465=) n.326G= c.544G= (p.Glu182=) c.497G= c.1201G= (p.Glu401=) c.529G= (p.Glu177=) | |
8 | g.43193772G>T | CA371119841 | HGSNAT | c.1393G>T (p.Glu465Ter) n.326G>T c.544G>T (p.Glu182Ter) c.497G>T c.1201G>T (p.Glu401Ter) c.529G>T (p.Glu177Ter) | gnomAD v4 |
8 | g.43193773A>C | CA371119843 | HGSNAT | c.1394A>C (p.Glu465Ala) n.327A>C c.545A>C (p.Glu182Ala) c.498A>C c.1202A>C (p.Glu401Ala) c.530A>C (p.Glu177Ala) | |
8 | g.43193773A>G | CA371119844 | HGSNAT | c.1394A>G (p.Glu465Gly) n.327A>G c.545A>G (p.Glu182Gly) c.498A>G c.1202A>G (p.Glu401Gly) c.530A>G (p.Glu177Gly) | |
8 | g.43193773A>T | CA371119845 | HGSNAT | c.1394A>T (p.Glu465Val) n.327A>T c.545A>T (p.Glu182Val) c.498A>T c.1202A>T (p.Glu401Val) c.530A>T (p.Glu177Val) | |
8 | g.43193774G>A | CA460579106 | HGSNAT | c.1395G>A (p.Glu465=) n.328G>A c.546G>A (p.Glu182=) c.499G>A c.1203G>A (p.Glu401=) c.531G>A (p.Glu177=) | |
8 | g.43193774G>C | CA371119846 | HGSNAT | c.1395G>C (p.Glu465Asp) n.328G>C c.546G>C (p.Glu182Asp) c.499G>C c.1203G>C (p.Glu401Asp) c.531G>C (p.Glu177Asp) | |
8 | g.43193774G>T | CA371119847 | HGSNAT | c.1395G>T (p.Glu465Asp) n.328G>T c.546G>T (p.Glu182Asp) c.499G>T c.1203G>T (p.Glu401Asp) c.531G>T (p.Glu177Asp) | |
8 | g.43193775G>A | CA371119848 | HGSNAT | c.1396G>A (p.Val466Met) n.329G>A c.547G>A (p.Val183Met) c.500G>A c.1204G>A (p.Val402Met) c.532G>A (p.Val178Met) | ClinVar dbSNP |
8 | g.43193775G>C | CA371119849 | HGSNAT | c.1396G>C (p.Val466Leu) n.329G>C c.547G>C (p.Val183Leu) c.500G>C c.1204G>C (p.Val402Leu) c.532G>C (p.Val178Leu) | gnomAD v4 |
8 | g.43193775G= | CA1779760573 | HGSNAT | c.1396G= (p.Val466=) n.329G= c.547G= (p.Val183=) c.500G= c.1204G= (p.Val402=) c.532G= (p.Val178=) | |
8 | g.43193775G>T | CA371119850 | HGSNAT | c.1396G>T (p.Val466Leu) n.329G>T c.547G>T (p.Val183Leu) c.500G>T c.1204G>T (p.Val402Leu) c.532G>T (p.Val178Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43193776T>A | CA371119851 | HGSNAT | c.1397T>A (p.Val466Glu) n.330T>A c.548T>A (p.Val183Glu) c.501T>A c.1205T>A (p.Val402Glu) c.533T>A (p.Val178Glu) | |
8 | g.43193776T>C | CA371119852 | HGSNAT | c.1397T>C (p.Val466Ala) n.330T>C c.548T>C (p.Val183Ala) c.501T>C c.1205T>C (p.Val402Ala) c.533T>C (p.Val178Ala) | |
8 | g.43193776T>G | CA371119853 | HGSNAT | c.1397T>G (p.Val466Gly) n.330T>G c.548T>G (p.Val183Gly) c.501T>G c.1205T>G (p.Val402Gly) c.533T>G (p.Val178Gly) | |
8 | g.43193777G>A | CA460579120 | HGSNAT | c.1398G>A (p.Val466=) n.331G>A c.549G>A (p.Val183=) c.502G>A c.1206G>A (p.Val402=) c.534G>A (p.Val178=) | dbSNP gnomAD v2 |
8 | g.43193777G>C | CA460579117 | HGSNAT | c.1398G>C (p.Val466=) n.331G>C c.549G>C (p.Val183=) c.502G>C c.1206G>C (p.Val402=) c.534G>C (p.Val178=) | |
8 | g.43193777G= | CA1779760574 | HGSNAT | c.1398G= (p.Val466=) n.331G= c.549G= (p.Val183=) c.502G= c.1206G= (p.Val402=) c.534G= (p.Val178=) | |
8 | g.43193777G>T | CA460579119 | HGSNAT | c.1398G>T (p.Val466=) n.331G>T c.549G>T (p.Val183=) c.502G>T c.1206G>T (p.Val402=) c.534G>T (p.Val178=) | |
8 | g.43193778G>A | CA371119856 | HGSNAT | c.1399G>A (p.Ala467Thr) n.332G>A c.550G>A (p.Ala184Thr) c.503G>A c.1207G>A (p.Ala403Thr) c.535G>A (p.Ala179Thr) | |
8 | g.43193778G>C | CA371119854 | HGSNAT | c.1399G>C (p.Ala467Pro) n.332G>C c.550G>C (p.Ala184Pro) c.503G>C c.1207G>C (p.Ala403Pro) c.535G>C (p.Ala179Pro) | |
8 | g.43193778G>T | CA371119855 | HGSNAT | c.1399G>T (p.Ala467Ser) n.332G>T c.550G>T (p.Ala184Ser) c.503G>T c.1207G>T (p.Ala403Ser) c.535G>T (p.Ala179Ser) | |
8 | g.43193779C>A | CA371119857 | HGSNAT | c.1400C>A (p.Ala467Asp) n.333C>A c.551C>A (p.Ala184Asp) c.504C>A c.1208C>A (p.Ala403Asp) c.536C>A (p.Ala179Asp) | |
8 | g.43193779C= | CA1779760575 | HGSNAT | c.1400C= (p.Ala467=) n.333C= c.551C= (p.Ala184=) c.504C= c.1208C= (p.Ala403=) c.536C= (p.Ala179=) | |
8 | g.43193779C>G | CA371119859 | HGSNAT | c.1400C>G (p.Ala467Gly) n.333C>G c.551C>G (p.Ala184Gly) c.504C>G c.1208C>G (p.Ala403Gly) c.536C>G (p.Ala179Gly) | |
8 | g.43193779C>T | CA371119858 | HGSNAT | c.1400C>T (p.Ala467Val) n.333C>T c.551C>T (p.Ala184Val) c.504C>T c.1208C>T (p.Ala403Val) c.536C>T (p.Ala179Val) | dbSNP |
8 | g.43193780del | CA2740095032 | HGSNAT | c.1401del (p.Tyr468MetfsTer14) n.334del c.552del (p.Tyr185MetfsTer14) c.505del c.1209del (p.Tyr404MetfsTer14) c.537del (p.Tyr180MetfsTer14) | ClinVar |
8 | g.43193780C>A | CA460579121 | HGSNAT | c.1401C>A (p.Ala467=) n.334C>A c.552C>A (p.Ala184=) c.505C>A c.1209C>A (p.Ala403=) c.537C>A (p.Ala179=) | |
8 | g.43193780C= | CA1779760576 | HGSNAT | c.1401C= (p.Ala467=) n.334C= c.552C= (p.Ala184=) c.505C= c.1209C= (p.Ala403=) c.537C= (p.Ala179=) | |
8 | g.43193780C>G | CA460579122 | HGSNAT | c.1401C>G (p.Ala467=) n.334C>G c.552C>G (p.Ala184=) c.505C>G c.1209C>G (p.Ala403=) c.537C>G (p.Ala179=) | ClinVar |
8 | g.43193780C>T | CA460579123 | HGSNAT | c.1401C>T (p.Ala467=) n.334C>T c.552C>T (p.Ala184=) c.505C>T c.1209C>T (p.Ala403=) c.537C>T (p.Ala179=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.43193781T>A | CA371119860 | HGSNAT | c.1402T>A (p.Tyr468Asn) n.335T>A c.553T>A (p.Tyr185Asn) c.506T>A c.1210T>A (p.Tyr404Asn) c.538T>A (p.Tyr180Asn) | |
8 | g.43193781T>C | CA371119862 | HGSNAT | c.1402T>C (p.Tyr468His) n.335T>C c.553T>C (p.Tyr185His) c.506T>C c.1210T>C (p.Tyr404His) c.538T>C (p.Tyr180His) | |
8 | g.43193781T>G | CA371119861 | HGSNAT | c.1402T>G (p.Tyr468Asp) n.335T>G c.553T>G (p.Tyr185Asp) c.506T>G c.1210T>G (p.Tyr404Asp) c.538T>G (p.Tyr180Asp) | |
8 | g.43193782A= | CA1779760577 | HGSNAT | c.1403A= (p.Tyr468=) n.336A= c.554A= (p.Tyr185=) c.507A= c.1211A= (p.Tyr404=) c.539A= (p.Tyr180=) | |
8 | g.43193782A>C | CA371119863 | HGSNAT | c.1403A>C (p.Tyr468Ser) n.336A>C c.554A>C (p.Tyr185Ser) c.507A>C c.1211A>C (p.Tyr404Ser) c.539A>C (p.Tyr180Ser) | |
8 | g.43193782A>G | CA4736870 | HGSNAT | c.1403A>G (p.Tyr468Cys) n.336A>G c.554A>G (p.Tyr185Cys) c.507A>G c.1211A>G (p.Tyr404Cys) c.539A>G (p.Tyr180Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43193782A>T | CA371119864 | HGSNAT | c.1403A>T (p.Tyr468Phe) n.336A>T c.554A>T (p.Tyr185Phe) c.507A>T c.1211A>T (p.Tyr404Phe) c.539A>T (p.Tyr180Phe) | dbSNP |
8 | g.43193783T>A | CA371119865 | HGSNAT | c.1404T>A (p.Tyr468Ter) n.337T>A c.555T>A (p.Tyr185Ter) c.508T>A c.1212T>A (p.Tyr404Ter) c.540T>A (p.Tyr180Ter) | |
8 | g.43193783T>C | CA460579124 | HGSNAT | c.1404T>C (p.Tyr468=) n.337T>C c.555T>C (p.Tyr185=) c.508T>C c.1212T>C (p.Tyr404=) c.540T>C (p.Tyr180=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.43193783T>G | CA371119866 | HGSNAT | c.1404T>G (p.Tyr468Ter) n.337T>G c.555T>G (p.Tyr185Ter) c.508T>G c.1212T>G (p.Tyr404Ter) c.540T>G (p.Tyr180Ter) | |
8 | g.43193783T= | CA1779760578 | HGSNAT | c.1404T= (p.Tyr468=) n.337T= c.555T= (p.Tyr185=) c.508T= c.1212T= (p.Tyr404=) c.540T= (p.Tyr180=) | |
8 | g.43193784G>A | CA371119867 | HGSNAT | c.1405G>A (p.Asp469Asn) n.338G>A c.556G>A (p.Asp186Asn) c.509G>A c.1213G>A (p.Asp405Asn) c.541G>A (p.Asp181Asn) | |
8 | g.43193784G>C | CA371119868 | HGSNAT | c.1405G>C (p.Asp469His) n.338G>C c.556G>C (p.Asp186His) c.509G>C c.1213G>C (p.Asp405His) c.541G>C (p.Asp181His) | |
8 | g.43193784G>T | CA371119869 | HGSNAT | c.1405G>T (p.Asp469Tyr) n.338G>T c.556G>T (p.Asp186Tyr) c.509G>T c.1213G>T (p.Asp405Tyr) c.541G>T (p.Asp181Tyr) | |
8 | g.43193785A>C | CA371119870 | HGSNAT | c.1406A>C (p.Asp469Ala) n.339A>C c.557A>C (p.Asp186Ala) c.510A>C c.1214A>C (p.Asp405Ala) c.542A>C (p.Asp181Ala) | |
8 | g.43193785A>G | CA371119871 | HGSNAT | c.1406A>G (p.Asp469Gly) n.339A>G c.557A>G (p.Asp186Gly) c.510A>G c.1214A>G (p.Asp405Gly) c.542A>G (p.Asp181Gly) | |
8 | g.43193785A>T | CA371119872 | HGSNAT | c.1406A>T (p.Asp469Val) n.339A>T c.557A>T (p.Asp186Val) c.510A>T c.1214A>T (p.Asp405Val) c.542A>T (p.Asp181Val) | |
8 | g.43193786C>A | CA371119873 | HGSNAT | c.1407C>A (p.Asp469Glu) n.340C>A c.558C>A (p.Asp186Glu) c.511C>A c.1215C>A (p.Asp405Glu) c.543C>A (p.Asp181Glu) | gnomAD v4 |
8 | g.43193786C= | CA1779760579 | HGSNAT | c.1407C= (p.Asp469=) n.340C= c.558C= (p.Asp186=) c.511C= c.1215C= (p.Asp405=) c.543C= (p.Asp181=) | |
8 | g.43193786C>G | CA371119874 | HGSNAT | c.1407C>G (p.Asp469Glu) n.340C>G c.558C>G (p.Asp186Glu) c.511C>G c.1215C>G (p.Asp405Glu) c.543C>G (p.Asp181Glu) | |
8 | g.43193786C>T | CA460579125 | HGSNAT | c.1407C>T (p.Asp469=) n.340C>T c.558C>T (p.Asp186=) c.511C>T c.1215C>T (p.Asp405=) c.543C>T (p.Asp181=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43193787C>A | CA371119875 | HGSNAT | c.1408C>A (p.Pro470Thr) n.341C>A c.559C>A (p.Pro187Thr) c.512C>A c.1216C>A (p.Pro406Thr) c.544C>A (p.Pro182Thr) | |
8 | g.43193787C>G | CA371119877 | HGSNAT | c.1408C>G (p.Pro470Ala) n.341C>G c.559C>G (p.Pro187Ala) c.512C>G c.1216C>G (p.Pro406Ala) c.544C>G (p.Pro182Ala) | |
8 | g.43193787C>T | CA371119876 | HGSNAT | c.1408C>T (p.Pro470Ser) n.341C>T c.559C>T (p.Pro187Ser) c.512C>T c.1216C>T (p.Pro406Ser) c.544C>T (p.Pro182Ser) | |
8 | g.43193788C>A | CA371119878 | HGSNAT | c.1409C>A (p.Pro470His) n.342C>A c.560C>A (p.Pro187His) c.513C>A c.1217C>A (p.Pro406His) c.545C>A (p.Pro182His) | |
8 | g.43193788C>G | CA371119879 | HGSNAT | c.1409C>G (p.Pro470Arg) n.342C>G c.560C>G (p.Pro187Arg) c.513C>G c.1217C>G (p.Pro406Arg) c.545C>G (p.Pro182Arg) | |
8 | g.43193788C>T | CA371119880 | HGSNAT | c.1409C>T (p.Pro470Leu) n.342C>T c.560C>T (p.Pro187Leu) c.513C>T c.1217C>T (p.Pro406Leu) c.545C>T (p.Pro182Leu) | |
8 | g.43193789C>A | CA460579184 | HGSNAT | c.1410C>A (p.Pro470=) n.343C>A c.561C>A (p.Pro187=) c.514C>A c.1218C>A (p.Pro406=) c.546C>A (p.Pro182=) | |
8 | g.43193789C= | CA1779760580 | HGSNAT | c.1410C= (p.Pro470=) n.343C= c.561C= (p.Pro187=) c.514C= c.1218C= (p.Pro406=) c.546C= (p.Pro182=) | |
8 | g.43193789C>G | CA460579186 | HGSNAT | c.1410C>G (p.Pro470=) n.343C>G c.561C>G (p.Pro187=) c.514C>G c.1218C>G (p.Pro406=) c.546C>G (p.Pro182=) | |
8 | g.43193789C>T | CA4736871 | HGSNAT | c.1410C>T (p.Pro470=) n.343C>T c.561C>T (p.Pro187=) c.514C>T c.1218C>T (p.Pro406=) c.546C>T (p.Pro182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43193790G>A | CA4736872 | HGSNAT | c.1411G>A (p.Glu471Lys) n.344G>A c.562G>A (p.Glu188Lys) c.515G>A c.1219G>A (p.Glu407Lys) c.547G>A (p.Glu183Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43193790G>C | CA371119881 | HGSNAT | c.1411G>C (p.Glu471Gln) n.344G>C c.562G>C (p.Glu188Gln) c.515G>C c.1219G>C (p.Glu407Gln) c.547G>C (p.Glu183Gln) | ClinVar dbSNP |
8 | g.43193790G= | CA1779760581 | HGSNAT | c.1411G= (p.Glu471=) n.344G= c.562G= (p.Glu188=) c.515G= c.1219G= (p.Glu407=) c.547G= (p.Glu183=) | |
8 | g.43193790G>T | CA371119882 | HGSNAT | c.1411G>T (p.Glu471Ter) n.344G>T c.562G>T (p.Glu188Ter) c.515G>T c.1219G>T (p.Glu407Ter) c.547G>T (p.Glu183Ter) | ClinVar dbSNP |
8 | g.43193791A>C | CA371119883 | HGSNAT | c.1412A>C (p.Glu471Ala) n.345A>C c.563A>C (p.Glu188Ala) c.516A>C c.1220A>C (p.Glu407Ala) c.548A>C (p.Glu183Ala) | |
8 | g.43193791A>G | CA371119884 | HGSNAT | c.1412A>G (p.Glu471Gly) n.345A>G c.563A>G (p.Glu188Gly) c.516A>G c.1220A>G (p.Glu407Gly) c.548A>G (p.Glu183Gly) | |
8 | g.43193791A>T | CA371119885 | HGSNAT | c.1412A>T (p.Glu471Val) n.345A>T c.563A>T (p.Glu188Val) c.516A>T c.1220A>T (p.Glu407Val) c.548A>T (p.Glu183Val) | |
8 | g.43193792G>A | CA460579196 | HGSNAT | c.1413G>A (p.Glu471=) n.346G>A c.564G>A (p.Glu188=) c.517G>A c.1221G>A (p.Glu407=) c.549G>A (p.Glu183=) | |
8 | g.43193792G>C | CA371119886 | HGSNAT | c.1413G>C (p.Glu471Asp) n.346G>C c.564G>C (p.Glu188Asp) c.517G>C c.1221G>C (p.Glu407Asp) c.549G>C (p.Glu183Asp) | |
8 | g.43193792G= | CA1779760582 | HGSNAT | c.1413G= (p.Glu471=) n.346G= c.564G= (p.Glu188=) c.517G= c.1221G= (p.Glu407=) c.549G= (p.Glu183=) | |
8 | g.43193792G>T | CA371119887 | HGSNAT | c.1413G>T (p.Glu471Asp) n.346G>T c.564G>T (p.Glu188Asp) c.517G>T c.1221G>T (p.Glu407Asp) c.549G>T (p.Glu183Asp) | dbSNP |
8 | g.43193793G>A | CA371119888 | HGSNAT | c.1414G>A (p.Gly472Ser) n.347G>A c.565G>A (p.Gly189Ser) c.518G>A c.1222G>A (p.Gly408Ser) c.550G>A (p.Gly184Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43193793G>C | CA371119889 | HGSNAT | c.1414G>C (p.Gly472Arg) n.347G>C c.565G>C (p.Gly189Arg) c.518G>C c.1222G>C (p.Gly408Arg) c.550G>C (p.Gly184Arg) | |
8 | g.43193793G= | CA1779760583 | HGSNAT | c.1414G= (p.Gly472=) n.347G= c.565G= (p.Gly189=) c.518G= c.1222G= (p.Gly408=) c.550G= (p.Gly184=) | |
8 | g.43193793G>T | CA371119890 | HGSNAT | c.1414G>T (p.Gly472Cys) n.347G>T c.565G>T (p.Gly189Cys) c.518G>T c.1222G>T (p.Gly408Cys) c.550G>T (p.Gly184Cys) | |
8 | g.43193794G>A | CA371119891 | HGSNAT | c.1415G>A (p.Gly472Asp) n.348G>A c.566G>A (p.Gly189Asp) c.519G>A c.1223G>A (p.Gly408Asp) c.551G>A (p.Gly184Asp) | dbSNP COSMIC COSMIC |
8 | g.43193794G>C | CA371119892 | HGSNAT | c.1415G>C (p.Gly472Ala) n.348G>C c.566G>C (p.Gly189Ala) c.519G>C c.1223G>C (p.Gly408Ala) c.551G>C (p.Gly184Ala) | |
8 | g.43193794G= | CA1779760584 | HGSNAT | c.1415G= (p.Gly472=) n.348G= c.566G= (p.Gly189=) c.519G= c.1223G= (p.Gly408=) c.551G= (p.Gly184=) | |
8 | g.43193794G>T | CA371119893 | HGSNAT | c.1415G>T (p.Gly472Val) n.348G>T c.566G>T (p.Gly189Val) c.519G>T c.1223G>T (p.Gly408Val) c.551G>T (p.Gly184Val) | gnomAD v4 |
8 | g.43193795C>A | CA460579206 | HGSNAT | c.1416C>A (p.Gly472=) n.349C>A c.567C>A (p.Gly189=) c.520C>A c.1224C>A (p.Gly408=) c.552C>A (p.Gly184=) | gnomAD v4 |
8 | g.43193795C= | CA1779760585 | HGSNAT | c.1416C= (p.Gly472=) n.349C= c.567C= (p.Gly189=) c.520C= c.1224C= (p.Gly408=) c.552C= (p.Gly184=) | |
8 | g.43193795C>G | CA460579207 | HGSNAT | c.1416C>G (p.Gly472=) n.349C>G c.567C>G (p.Gly189=) c.520C>G c.1224C>G (p.Gly408=) c.552C>G (p.Gly184=) | |
8 | g.43193795C>T | CA460579208 | HGSNAT | c.1416C>T (p.Gly472=) n.349C>T c.567C>T (p.Gly189=) c.520C>T c.1224C>T (p.Gly408=) c.552C>T (p.Gly184=) | ClinVar dbSNP gnomAD v4 |
8 | g.43193796A>C | CA371119894 | HGSNAT | c.1417A>C (p.Ile473Leu) n.350A>C c.568A>C (p.Ile190Leu) c.521A>C c.1225A>C (p.Ile409Leu) c.553A>C (p.Ile185Leu) | |
8 | g.43193796A>G | CA371119895 | HGSNAT | c.1417A>G (p.Ile473Val) n.350A>G c.568A>G (p.Ile190Val) c.521A>G c.1225A>G (p.Ile409Val) c.553A>G (p.Ile185Val) | |
8 | g.43193796A>T | CA371119896 | HGSNAT | c.1417A>T (p.Ile473Phe) n.350A>T c.568A>T (p.Ile190Phe) c.521A>T c.1225A>T (p.Ile409Phe) c.553A>T (p.Ile185Phe) | |
8 | g.43193797T>A | CA371119897 | HGSNAT | c.1418T>A (p.Ile473Asn) n.351T>A c.569T>A (p.Ile190Asn) c.522T>A c.1226T>A (p.Ile409Asn) c.554T>A (p.Ile185Asn) | |
8 | g.43193797T>C | CA371119898 | HGSNAT | c.1418T>C (p.Ile473Thr) n.351T>C c.569T>C (p.Ile190Thr) c.522T>C c.1226T>C (p.Ile409Thr) c.554T>C (p.Ile185Thr) | |
8 | g.43193797T>G | CA371119899 | HGSNAT | c.1418T>G (p.Ile473Ser) n.351T>G c.569T>G (p.Ile190Ser) c.522T>G c.1226T>G (p.Ile409Ser) c.554T>G (p.Ile185Ser) | |
8 | g.43193798C>A | CA460579216 | HGSNAT | c.1419C>A (p.Ile473=) n.352C>A c.570C>A (p.Ile190=) c.523C>A c.1227C>A (p.Ile409=) c.555C>A (p.Ile185=) | |
8 | g.43193798C>G | CA371119900 | HGSNAT | c.1419C>G (p.Ile473Met) n.352C>G c.570C>G (p.Ile190Met) c.523C>G c.1227C>G (p.Ile409Met) c.555C>G (p.Ile185Met) | |
8 | g.43193798C>T | CA460579219 | HGSNAT | c.1419C>T (p.Ile473=) n.352C>T c.570C>T (p.Ile190=) c.523C>T c.1227C>T (p.Ile409=) c.555C>T (p.Ile185=) | ClinVar gnomAD v4 |
8 | g.43193799C>A | CA371119901 | HGSNAT | c.1420C>A (p.Leu474Met) n.353C>A c.571C>A (p.Leu191Met) c.524C>A c.1228C>A (p.Leu410Met) c.556C>A (p.Leu186Met) | COSMIC COSMIC |
8 | g.43193799C= | CA1779760586 | HGSNAT | c.1420C= (p.Leu474=) n.353C= c.571C= (p.Leu191=) c.524C= c.1228C= (p.Leu410=) c.556C= (p.Leu186=) | |
8 | g.43193799C>G | CA371119902 | HGSNAT | c.1420C>G (p.Leu474Val) n.353C>G c.571C>G (p.Leu191Val) c.524C>G c.1228C>G (p.Leu410Val) c.556C>G (p.Leu186Val) | ClinVar dbSNP gnomAD v4 |
8 | g.43193799C>T | CA460579224 | HGSNAT | c.1420C>T (p.Leu474=) n.353C>T c.571C>T (p.Leu191=) c.524C>T c.1228C>T (p.Leu410=) c.556C>T (p.Leu186=) | dbSNP |
8 | g.43193800T>A | CA371119903 | HGSNAT | c.1421T>A (p.Leu474Gln) n.354T>A c.572T>A (p.Leu191Gln) c.525T>A c.1229T>A (p.Leu410Gln) c.557T>A (p.Leu186Gln) | |
8 | g.43193800T>C | CA371119904 | HGSNAT | c.1421T>C (p.Leu474Pro) n.354T>C c.572T>C (p.Leu191Pro) c.525T>C c.1229T>C (p.Leu410Pro) c.557T>C (p.Leu186Pro) | |
8 | g.43193800T>G | CA371119905 | HGSNAT | c.1421T>G (p.Leu474Arg) n.354T>G c.572T>G (p.Leu191Arg) c.525T>G c.1229T>G (p.Leu410Arg) c.557T>G (p.Leu186Arg) | gnomAD v4 |
8 | g.43193801G>A | CA460579230 | HGSNAT | c.1422G>A (p.Leu474=) n.355G>A c.573G>A (p.Leu191=) c.526G>A c.1230G>A (p.Leu410=) c.558G>A (p.Leu186=) | |
8 | g.43193801G>C | CA460579233 | HGSNAT | c.1422G>C (p.Leu474=) n.355G>C c.573G>C (p.Leu191=) c.526G>C c.1230G>C (p.Leu410=) c.558G>C (p.Leu186=) | |
8 | g.43193801G>T | CA460579235 | HGSNAT | c.1422G>T (p.Leu474=) n.355G>T c.573G>T (p.Leu191=) c.526G>T c.1230G>T (p.Leu410=) c.558G>T (p.Leu186=) | |
8 | g.43193802G>A | CA371119906 | HGSNAT | c.1423G>A (p.Gly475Ser) n.356G>A c.574G>A (p.Gly192Ser) c.527G>A c.1231G>A (p.Gly411Ser) c.559G>A (p.Gly187Ser) | |
8 | g.43193802G>C | CA371119907 | HGSNAT | c.1423G>C (p.Gly475Arg) n.356G>C c.574G>C (p.Gly192Arg) c.527G>C c.1231G>C (p.Gly411Arg) c.559G>C (p.Gly187Arg) | COSMIC COSMIC |
8 | g.43193802G>T | CA371119908 | HGSNAT | c.1423G>T (p.Gly475Cys) n.356G>T c.574G>T (p.Gly192Cys) c.527G>T c.1231G>T (p.Gly411Cys) c.559G>T (p.Gly187Cys) | |
8 | g.43193803G>A | CA371119909 | HGSNAT | c.1424G>A (p.Gly475Asp) n.357G>A c.575G>A (p.Gly192Asp) c.528G>A c.1232G>A (p.Gly411Asp) c.560G>A (p.Gly187Asp) | |
8 | g.43193803G>C | CA371119910 | HGSNAT | c.1424G>C (p.Gly475Ala) n.357G>C c.575G>C (p.Gly192Ala) c.528G>C c.1232G>C (p.Gly411Ala) c.560G>C (p.Gly187Ala) | |
8 | g.43193803G>T | CA371119911 | HGSNAT | c.1424G>T (p.Gly475Val) n.357G>T c.575G>T (p.Gly192Val) c.528G>T c.1232G>T (p.Gly411Val) c.560G>T (p.Gly187Val) | |
8 | g.43193804C>A | CA460579244 | HGSNAT | c.1425C>A (p.Gly475=) n.358C>A c.576C>A (p.Gly192=) c.529C>A c.1233C>A (p.Gly411=) c.561C>A (p.Gly187=) | |
8 | g.43193804C>G | CA460579246 | HGSNAT | c.1425C>G (p.Gly475=) n.358C>G c.576C>G (p.Gly192=) c.529C>G c.1233C>G (p.Gly411=) c.561C>G (p.Gly187=) | |
8 | g.43193804C>T | CA460579248 | HGSNAT | c.1425C>T (p.Gly475=) n.358C>T c.576C>T (p.Gly192=) c.529C>T c.1233C>T (p.Gly411=) c.561C>T (p.Gly187=) | COSMIC COSMIC |
8 | g.43193805A= | CA1779760587 | HGSNAT | c.1426A= (p.Thr476=) n.359A= c.577A= (p.Thr193=) c.530A= c.1234A= (p.Thr412=) c.562A= (p.Thr188=) | |
8 | g.43193805A>C | CA371119912 | HGSNAT | c.1426A>C (p.Thr476Pro) n.359A>C c.577A>C (p.Thr193Pro) c.530A>C c.1234A>C (p.Thr412Pro) c.562A>C (p.Thr188Pro) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43193805A>G | CA371119913 | HGSNAT | c.1426A>G (p.Thr476Ala) n.359A>G c.577A>G (p.Thr193Ala) c.530A>G c.1234A>G (p.Thr412Ala) c.562A>G (p.Thr188Ala) | |
8 | g.43193805A>T | CA371119914 | HGSNAT | c.1426A>T (p.Thr476Ser) n.359A>T c.577A>T (p.Thr193Ser) c.530A>T c.1234A>T (p.Thr412Ser) c.562A>T (p.Thr188Ser) | |
8 | g.43193806C>A | CA371119917 | HGSNAT | c.1427C>A (p.Thr476Asn) n.360C>A c.578C>A (p.Thr193Asn) c.531C>A c.1235C>A (p.Thr412Asn) c.563C>A (p.Thr188Asn) | |
8 | g.43193806C>G | CA371119916 | HGSNAT | c.1427C>G (p.Thr476Ser) n.360C>G c.578C>G (p.Thr193Ser) c.531C>G c.1235C>G (p.Thr412Ser) c.563C>G (p.Thr188Ser) | |
8 | g.43193806C>T | CA371119915 | HGSNAT | c.1427C>T (p.Thr476Ile) n.360C>T c.578C>T (p.Thr193Ile) c.531C>T c.1235C>T (p.Thr412Ile) c.563C>T (p.Thr188Ile) | |
8 | g.43193807C>A | CA460579254 | HGSNAT | c.1428C>A (p.Thr476=) n.361C>A c.579C>A (p.Thr193=) c.532C>A c.1236C>A (p.Thr412=) c.564C>A (p.Thr188=) | |
8 | g.43193807C>G | CA460579257 | HGSNAT | c.1428C>G (p.Thr476=) n.361C>G c.579C>G (p.Thr193=) c.532C>G c.1236C>G (p.Thr412=) c.564C>G (p.Thr188=) | |
8 | g.43193807C>T | CA460579259 | HGSNAT | c.1428C>T (p.Thr476=) n.361C>T c.579C>T (p.Thr193=) c.532C>T c.1236C>T (p.Thr412=) c.564C>T (p.Thr188=) | |
8 | g.43193808A= | CA1779760588 | HGSNAT | c.1429A= (p.Ile477=) n.362A= c.580A= (p.Ile194=) c.533A= c.1237A= (p.Ile413=) c.565A= (p.Ile189=) | |
8 | g.43193808A>C | CA371119919 | HGSNAT | c.1429A>C (p.Ile477Leu) n.362A>C c.580A>C (p.Ile194Leu) c.533A>C c.1237A>C (p.Ile413Leu) c.565A>C (p.Ile189Leu) | |
8 | g.43193808A>G | CA371119918 | HGSNAT | c.1429A>G (p.Ile477Val) n.362A>G c.580A>G (p.Ile194Val) c.533A>G c.1237A>G (p.Ile413Val) c.565A>G (p.Ile189Val) | dbSNP gnomAD v4 |
8 | g.43193808A>T | CA371119920 | HGSNAT | c.1429A>T (p.Ile477Phe) n.362A>T c.580A>T (p.Ile194Phe) c.533A>T c.1237A>T (p.Ile413Phe) c.565A>T (p.Ile189Phe) | |
8 | g.43193809T>A | CA371119921 | HGSNAT | c.1430T>A (p.Ile477Asn) n.363T>A c.581T>A (p.Ile194Asn) c.534T>A c.1238T>A (p.Ile413Asn) c.566T>A (p.Ile189Asn) | |
8 | g.43193809T>C | CA371119922 | HGSNAT | c.1430T>C (p.Ile477Thr) n.363T>C c.581T>C (p.Ile194Thr) c.534T>C c.1238T>C (p.Ile413Thr) c.566T>C (p.Ile189Thr) | |
8 | g.43193809T>G | CA371119923 | HGSNAT | c.1430T>G (p.Ile477Ser) n.363T>G c.581T>G (p.Ile194Ser) c.534T>G c.1238T>G (p.Ile413Ser) c.566T>G (p.Ile189Ser) | |
8 | g.43193810C>A | CA460579263 | HGSNAT | c.1431C>A (p.Ile477=) n.364C>A c.582C>A (p.Ile194=) c.535C>A c.1239C>A (p.Ile413=) c.567C>A (p.Ile189=) | |
8 | g.43193810C= | CA1779760589 | HGSNAT | c.1431C= (p.Ile477=) n.364C= c.582C= (p.Ile194=) c.535C= c.1239C= (p.Ile413=) c.567C= (p.Ile189=) | |
8 | g.43193810C>G | CA4736873 | HGSNAT | c.1431C>G (p.Ile477Met) n.364C>G c.582C>G (p.Ile194Met) c.535C>G c.1239C>G (p.Ile413Met) c.567C>G (p.Ile189Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43193810C>T | CA460579266 | HGSNAT | c.1431C>T (p.Ile477=) n.364C>T c.582C>T (p.Ile194=) c.535C>T c.1239C>T (p.Ile413=) c.567C>T (p.Ile189=) | ClinVar |
8 | g.43193811A>C | CA371119924 | HGSNAT | c.1432A>C (p.Asn478His) n.365A>C c.583A>C (p.Asn195His) c.536A>C c.1240A>C (p.Asn414His) c.568A>C (p.Asn190His) | |
8 | g.43193811A>G | CA371119925 | HGSNAT | c.1432A>G (p.Asn478Asp) n.365A>G c.583A>G (p.Asn195Asp) c.536A>G c.1240A>G (p.Asn414Asp) c.568A>G (p.Asn190Asp) | |
8 | g.43193811A>T | CA371119926 | HGSNAT | c.1432A>T (p.Asn478Tyr) n.365A>T c.583A>T (p.Asn195Tyr) c.536A>T c.1240A>T (p.Asn414Tyr) c.568A>T (p.Asn190Tyr) | |
8 | g.43193812A= | CA1779760590 | HGSNAT | c.1433A= (p.Asn478=) n.366A= c.584A= (p.Asn195=) c.537A= c.1241A= (p.Asn414=) c.569A= (p.Asn190=) | |
8 | g.43193812A>C | CA4736874 | HGSNAT | c.1433A>C (p.Asn478Thr) n.366A>C c.584A>C (p.Asn195Thr) c.537A>C c.1241A>C (p.Asn414Thr) c.569A>C (p.Asn190Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43193812A>G | CA4736875 | HGSNAT | c.1433A>G (p.Asn478Ser) n.366A>G c.584A>G (p.Asn195Ser) c.537A>G c.1241A>G (p.Asn414Ser) c.569A>G (p.Asn190Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43193812A>T | CA371119927 | HGSNAT | c.1433A>T (p.Asn478Ile) n.366A>T c.584A>T (p.Asn195Ile) c.537A>T c.1241A>T (p.Asn414Ile) c.569A>T (p.Asn190Ile) | |
8 | g.43193813C>A | CA371119928 | HGSNAT | c.1434C>A (p.Asn478Lys) n.367C>A c.585C>A (p.Asn195Lys) c.538C>A c.1242C>A (p.Asn414Lys) c.570C>A (p.Asn190Lys) | COSMIC COSMIC |
8 | g.43193813C>G | CA371119929 | HGSNAT | c.1434C>G (p.Asn478Lys) n.367C>G c.585C>G (p.Asn195Lys) c.538C>G c.1242C>G (p.Asn414Lys) c.570C>G (p.Asn190Lys) | |
8 | g.43193813C>T | CA460579273 | HGSNAT | c.1434C>T (p.Asn478=) n.367C>T c.585C>T (p.Asn195=) c.538C>T c.1242C>T (p.Asn414=) c.570C>T (p.Asn190=) | |
8 | g.43193814T>A | CA371119932 | HGSNAT | c.1435T>A (p.Ser479Thr) n.368T>A c.586T>A (p.Ser196Thr) c.539T>A c.1243T>A (p.Ser415Thr) c.571T>A (p.Ser191Thr) | |
8 | g.43193814T>C | CA371119931 | HGSNAT | c.1435T>C (p.Ser479Pro) n.368T>C c.586T>C (p.Ser196Pro) c.539T>C c.1243T>C (p.Ser415Pro) c.571T>C (p.Ser191Pro) | |
8 | g.43193814T>G | CA371119930 | HGSNAT | c.1435T>G (p.Ser479Ala) n.368T>G c.586T>G (p.Ser196Ala) c.539T>G c.1243T>G (p.Ser415Ala) c.571T>G (p.Ser191Ala) | |
8 | g.43193814T= | CA1779760591 | HGSNAT | c.1435T= (p.Ser479=) n.368T= c.586T= (p.Ser196=) c.539T= c.1243T= (p.Ser415=) c.571T= (p.Ser191=) | |
8 | g.43193815C>A | CA371119933 | HGSNAT | c.1436C>A (p.Ser479Tyr) n.369C>A c.587C>A (p.Ser196Tyr) c.540C>A c.1244C>A (p.Ser415Tyr) c.572C>A (p.Ser191Tyr) | |
8 | g.43193815C>G | CA371119934 | HGSNAT | c.1436C>G (p.Ser479Cys) n.369C>G c.587C>G (p.Ser196Cys) c.540C>G c.1244C>G (p.Ser415Cys) c.572C>G (p.Ser191Cys) | |
8 | g.43193815C>T | CA371119935 | HGSNAT | c.1436C>T (p.Ser479Phe) n.369C>T c.587C>T (p.Ser196Phe) c.540C>T c.1244C>T (p.Ser415Phe) c.572C>T (p.Ser191Phe) | |
8 | g.43193816dup | CA4736876 | HGSNAT | c.1437dup (p.Ile480HisfsTer?) n.370dup c.588dup (p.Ile197HisfsTer?) c.541dup c.1245dup (p.Ile416HisfsTer?) c.573dup (p.Ile192HisfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43193816C>A | CA460579282 | HGSNAT | c.1437C>A (p.Ser479=) n.370C>A c.588C>A (p.Ser196=) c.541C>A c.1245C>A (p.Ser415=) c.573C>A (p.Ser191=) | |
8 | g.43193816C= | CA1779760592 | HGSNAT | c.1437C= (p.Ser479=) n.370C= c.588C= (p.Ser196=) c.541C= c.1245C= (p.Ser415=) c.573C= (p.Ser191=) | |
8 | g.43193816C>G | CA460579279 | HGSNAT | c.1437C>G (p.Ser479=) n.370C>G c.588C>G (p.Ser196=) c.541C>G c.1245C>G (p.Ser415=) c.573C>G (p.Ser191=) | |
8 | g.43193816C>T | CA460579280 | HGSNAT | c.1437C>T (p.Ser479=) n.370C>T c.588C>T (p.Ser196=) c.541C>T c.1245C>T (p.Ser415=) c.573C>T (p.Ser191=) | dbSNP gnomAD v4 |
8 | g.43193817A= | CA1779760593 | HGSNAT | c.1438A= (p.Ile480=) n.371A= c.589A= (p.Ile197=) c.542A= c.1246A= (p.Ile416=) c.574A= (p.Ile192=) | |
8 | g.43193817A>C | CA371119936 | HGSNAT | c.1438A>C (p.Ile480Leu) n.371A>C c.589A>C (p.Ile197Leu) c.542A>C c.1246A>C (p.Ile416Leu) c.574A>C (p.Ile192Leu) | |
8 | g.43193817A>G | CA4736877 | HGSNAT | c.1438A>G (p.Ile480Val) n.371A>G c.589A>G (p.Ile197Val) c.542A>G c.1246A>G (p.Ile416Val) c.574A>G (p.Ile192Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43193817A>T | CA371119937 | HGSNAT | c.1438A>T (p.Ile480Phe) n.371A>T c.589A>T (p.Ile197Phe) c.542A>T c.1246A>T (p.Ile416Phe) c.574A>T (p.Ile192Phe) | |
8 | g.43193818T>A | CA371119938 | HGSNAT | c.1439T>A (p.Ile480Asn) n.372T>A c.590T>A (p.Ile197Asn) c.543T>A c.1247T>A (p.Ile416Asn) c.575T>A (p.Ile192Asn) | |
8 | g.43193818T>C | CA371119939 | HGSNAT | c.1439T>C (p.Ile480Thr) n.372T>C c.590T>C (p.Ile197Thr) c.543T>C c.1247T>C (p.Ile416Thr) c.575T>C (p.Ile192Thr) | |
8 | g.43193818T>G | CA371119940 | HGSNAT | c.1439T>G (p.Ile480Ser) n.372T>G c.590T>G (p.Ile197Ser) c.543T>G c.1247T>G (p.Ile416Ser) c.575T>G (p.Ile192Ser) | |
8 | g.43193819C>A | CA460579288 | HGSNAT | c.1440C>A (p.Ile480=) n.373C>A c.591C>A (p.Ile197=) c.544C>A c.1248C>A (p.Ile416=) c.576C>A (p.Ile192=) | |
8 | g.43193819C= | CA1779760594 | HGSNAT | c.1440C= (p.Ile480=) n.373C= c.591C= (p.Ile197=) c.544C= c.1248C= (p.Ile416=) c.576C= (p.Ile192=) | |
8 | g.43193819C>G | CA371119941 | HGSNAT | c.1440C>G (p.Ile480Met) n.373C>G c.591C>G (p.Ile197Met) c.544C>G c.1248C>G (p.Ile416Met) c.576C>G (p.Ile192Met) | |
8 | g.43193819C>T | CA4736878 | HGSNAT | c.1440C>T (p.Ile480=) n.373C>T c.591C>T (p.Ile197=) c.544C>T c.1248C>T (p.Ile416=) c.576C>T (p.Ile192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43193820G>A | CA176074504 | HGSNAT | c.1441G>A (p.Val481Met) n.374G>A c.592G>A (p.Val198Met) c.545G>A c.1249G>A (p.Val417Met) c.577G>A (p.Val193Met) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43193820G>C | CA371119942 | HGSNAT | c.1441G>C (p.Val481Leu) n.374G>C c.592G>C (p.Val198Leu) c.545G>C c.1249G>C (p.Val417Leu) c.577G>C (p.Val193Leu) | |
8 | g.43193820G= | CA1779760595 | HGSNAT | c.1441G= (p.Val481=) n.374G= c.592G= (p.Val198=) c.545G= c.1249G= (p.Val417=) c.577G= (p.Val193=) | |
8 | g.43193820G>T | CA4736879 | HGSNAT | c.1441G>T (p.Val481Leu) n.374G>T c.592G>T (p.Val198Leu) c.545G>T c.1249G>T (p.Val417Leu) c.577G>T (p.Val193Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43193821T>A | CA4736880 | HGSNAT | c.1442T>A (p.Val481Glu) n.375T>A c.593T>A (p.Val198Glu) c.546T>A c.1250T>A (p.Val417Glu) c.578T>A (p.Val193Glu) | dbSNP ExAC |
8 | g.43193821T>C | CA371119943 | HGSNAT | c.1442T>C (p.Val481Ala) n.375T>C c.593T>C (p.Val198Ala) c.546T>C c.1250T>C (p.Val417Ala) c.578T>C (p.Val193Ala) | |
8 | g.43193821T>G | CA371119944 | HGSNAT | c.1442T>G (p.Val481Gly) n.375T>G c.593T>G (p.Val198Gly) c.546T>G c.1250T>G (p.Val417Gly) c.578T>G (p.Val193Gly) | |
8 | g.43193821T= | CA1779760596 | HGSNAT | c.1442T= (p.Val481=) n.375T= c.593T= (p.Val198=) c.546T= c.1250T= (p.Val417=) c.578T= (p.Val193=) | |
8 | g.43193822G>A | CA460579302 | HGSNAT | c.1443G>A (p.Val481=) n.376G>A c.594G>A (p.Val198=) c.547G>A c.1251G>A (p.Val417=) c.579G>A (p.Val193=) | |
8 | g.43193822G>C | CA460579304 | HGSNAT | c.1443G>C (p.Val481=) n.376G>C c.594G>C (p.Val198=) c.547G>C c.1251G>C (p.Val417=) c.579G>C (p.Val193=) | gnomAD v4 |
8 | g.43193822G>T | CA460579307 | HGSNAT | c.1443G>T (p.Val481=) n.376G>T c.594G>T (p.Val198=) c.547G>T c.1251G>T (p.Val417=) c.579G>T (p.Val193=) | |
8 | g.43193823A>C | CA371119945 | HGSNAT | c.1444A>C (p.Met482Leu) n.377A>C c.595A>C (p.Met199Leu) c.548A>C c.1252A>C (p.Met418Leu) c.580A>C (p.Met194Leu) | |
8 | g.43193823A>G | CA371119946 | HGSNAT | c.1444A>G (p.Met482Val) n.377A>G c.595A>G (p.Met199Val) c.548A>G c.1252A>G (p.Met418Val) c.580A>G (p.Met194Val) | |
8 | g.43193823A>T | CA371119947 | HGSNAT | c.1444A>T (p.Met482Leu) n.377A>T c.595A>T (p.Met199Leu) c.548A>T c.1252A>T (p.Met418Leu) c.580A>T (p.Met194Leu) | |
8 | g.43193824T>A | CA114867 | HGSNAT | c.1445T>A (p.Met482Lys) n.378T>A c.596T>A (p.Met199Lys) c.549T>A c.1253T>A (p.Met418Lys) c.581T>A (p.Met194Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43193824T>C | CA371119948 | HGSNAT | c.1445T>C (p.Met482Thr) n.378T>C c.596T>C (p.Met199Thr) c.549T>C c.1253T>C (p.Met418Thr) c.581T>C (p.Met194Thr) | |
8 | g.43193824T>G | CA371119949 | HGSNAT | c.1445T>G (p.Met482Arg) n.378T>G c.596T>G (p.Met199Arg) c.549T>G c.1253T>G (p.Met418Arg) c.581T>G (p.Met194Arg) | |
8 | g.43193824T= | CA1779760597 | HGSNAT | c.1445T= (p.Met482=) n.378T= c.596T= (p.Met199=) c.549T= c.1253T= (p.Met418=) c.581T= (p.Met194=) | |
8 | g.43193825G>A | CA371119950 | HGSNAT | c.1446G>A (p.Met482Ile) n.379G>A c.597G>A (p.Met199Ile) c.550G>A c.1254G>A (p.Met418Ile) c.582G>A (p.Met194Ile) | |
8 | g.43193825G>C | CA371119951 | HGSNAT | c.1446G>C (p.Met482Ile) n.379G>C c.597G>C (p.Met199Ile) c.550G>C c.1254G>C (p.Met418Ile) c.582G>C (p.Met194Ile) | |
8 | g.43193825G>T | CA371119952 | HGSNAT | c.1446G>T (p.Met482Ile) n.379G>T c.597G>T (p.Met199Ile) c.550G>T c.1254G>T (p.Met418Ile) c.582G>T (p.Met194Ile) | |
8 | g.43193826G>A | CA371119954 | HGSNAT | c.1447G>A (p.Ala483Thr) n.380G>A c.598G>A (p.Ala200Thr) c.551G>A c.1255G>A (p.Ala419Thr) c.583G>A (p.Ala195Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43193826G>C | CA371119955 | HGSNAT | c.1447G>C (p.Ala483Pro) n.380G>C c.598G>C (p.Ala200Pro) c.551G>C c.1255G>C (p.Ala419Pro) c.583G>C (p.Ala195Pro) | |
8 | g.43193826G= | CA1779760599 | HGSNAT | c.1447G= (p.Ala483=) n.380G= c.598G= (p.Ala200=) c.551G= c.1255G= (p.Ala419=) c.583G= (p.Ala195=) | |
8 | g.43193826G>T | CA371119953 | HGSNAT | c.1447G>T (p.Ala483Ser) n.380G>T c.598G>T (p.Ala200Ser) c.551G>T c.1255G>T (p.Ala419Ser) c.583G>T (p.Ala195Ser) | |
8 | g.43193826_43193827delinsGC | CA1779760598 | HGSNAT | c.1447_1448delinsGC (p.Ala483=) n.380_381delinsGC c.598_599delinsGC (p.Ala200=) c.551_552delinsGC c.1255_1256delinsGC (p.Ala419=) c.583_584delinsGC (p.Ala195=) | |
8 | g.43193827C>A | CA371119956 | HGSNAT | c.1448C>A (p.Ala483Asp) n.381C>A c.599C>A (p.Ala200Asp) c.552C>A c.1256C>A (p.Ala419Asp) c.584C>A (p.Ala195Asp) | |
8 | g.43193827C>G | CA371119957 | HGSNAT | c.1448C>G (p.Ala483Gly) n.381C>G c.599C>G (p.Ala200Gly) c.552C>G c.1256C>G (p.Ala419Gly) c.584C>G (p.Ala195Gly) | |
8 | g.43193827C>T | CA371119958 | HGSNAT | c.1448C>T (p.Ala483Val) n.381C>T c.599C>T (p.Ala200Val) c.552C>T c.1256C>T (p.Ala419Val) c.584C>T (p.Ala195Val) | gnomAD v4 |
8 | g.43193828del | CA4736881 | HGSNAT | c.1449del (p.Leu485Ter) n.382del c.600del (p.Leu202Ter) c.553del c.1257del (p.Leu421Ter) c.585del (p.Leu197Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43193828C>A | CA460579324 | HGSNAT | c.1449C>A (p.Ala483=) n.382C>A c.600C>A (p.Ala200=) c.553C>A c.1257C>A (p.Ala419=) c.585C>A (p.Ala195=) | |
8 | g.43193828C>G | CA460579325 | HGSNAT | c.1449C>G (p.Ala483=) n.382C>G c.600C>G (p.Ala200=) c.553C>G c.1257C>G (p.Ala419=) c.585C>G (p.Ala195=) | |
8 | g.43193828C>T | CA460579327 | HGSNAT | c.1449C>T (p.Ala483=) n.382C>T c.600C>T (p.Ala200=) c.553C>T c.1257C>T (p.Ala419=) c.585C>T (p.Ala195=) | |
8 | g.43193829T>A | CA371119961 | HGSNAT | c.1450T>A (p.Phe484Ile) n.383T>A c.601T>A (p.Phe201Ile) c.554T>A c.1258T>A (p.Phe420Ile) c.586T>A (p.Phe196Ile) | |
8 | g.43193829T>C | CA371119960 | HGSNAT | c.1450T>C (p.Phe484Leu) n.383T>C c.601T>C (p.Phe201Leu) c.554T>C c.1258T>C (p.Phe420Leu) c.586T>C (p.Phe196Leu) | |
8 | g.43193829T>G | CA371119959 | HGSNAT | c.1450T>G (p.Phe484Val) n.383T>G c.601T>G (p.Phe201Val) c.554T>G c.1258T>G (p.Phe420Val) c.586T>G (p.Phe196Val) | |
8 | g.43193830T>A | CA371119962 | HGSNAT | c.1451T>A (p.Phe484Tyr) n.384T>A c.602T>A (p.Phe201Tyr) c.555T>A c.1259T>A (p.Phe420Tyr) c.587T>A (p.Phe196Tyr) | |
8 | g.43193830T>C | CA371119963 | HGSNAT | c.1451T>C (p.Phe484Ser) n.384T>C c.602T>C (p.Phe201Ser) c.555T>C c.1259T>C (p.Phe420Ser) c.587T>C (p.Phe196Ser) | |
8 | g.43193830T>G | CA371119964 | HGSNAT | c.1451T>G (p.Phe484Cys) n.384T>G c.602T>G (p.Phe201Cys) c.555T>G c.1259T>G (p.Phe420Cys) c.587T>G (p.Phe196Cys) | |
8 | g.43193831T>A | CA371119965 | HGSNAT | c.1452T>A (p.Phe484Leu) n.385T>A c.603T>A (p.Phe201Leu) c.556T>A c.1260T>A (p.Phe420Leu) c.588T>A (p.Phe196Leu) | |
8 | g.43193831T>C | CA460579336 | HGSNAT | c.1452T>C (p.Phe484=) n.385T>C c.603T>C (p.Phe201=) c.556T>C c.1260T>C (p.Phe420=) c.588T>C (p.Phe196=) | ClinVar dbSNP |
8 | g.43193831T>G | CA371119966 | HGSNAT | c.1452T>G (p.Phe484Leu) n.385T>G c.603T>G (p.Phe201Leu) c.556T>G c.1260T>G (p.Phe420Leu) c.588T>G (p.Phe196Leu) | |
8 | g.43193832T>A | CA371119967 | HGSNAT | c.1453T>A (p.Leu485Ile) n.386T>A c.604T>A (p.Leu202Ile) c.557T>A c.1261T>A (p.Leu421Ile) c.589T>A (p.Leu197Ile) | |
8 | g.43193832T>C | CA460579341 | HGSNAT | c.1453T>C (p.Leu485=) n.386T>C c.604T>C (p.Leu202=) c.557T>C c.1261T>C (p.Leu421=) c.589T>C (p.Leu197=) | ClinVar |
8 | g.43193832T>G | CA371119968 | HGSNAT | c.1453T>G (p.Leu485Val) n.386T>G c.604T>G (p.Leu202Val) c.557T>G c.1261T>G (p.Leu421Val) c.589T>G (p.Leu197Val) | dbSNP |
8 | g.43193832T= | CA1779760600 | HGSNAT | c.1453T= (p.Leu485=) n.386T= c.604T= (p.Leu202=) c.557T= c.1261T= (p.Leu421=) c.589T= (p.Leu197=) | |
8 | g.43193833T>A | CA371119970 | HGSNAT | c.1454T>A (p.Leu485Ter) n.387T>A c.605T>A (p.Leu202Ter) c.558T>A c.1262T>A (p.Leu421Ter) c.590T>A (p.Leu197Ter) | |
8 | g.43193833T>C | CA371119971 | HGSNAT | c.1454T>C (p.Leu485Ser) n.387T>C c.605T>C (p.Leu202Ser) c.558T>C c.1262T>C (p.Leu421Ser) c.590T>C (p.Leu197Ser) | |
8 | g.43193833T>G | CA371119969 | HGSNAT | c.1454T>G (p.Leu485Ter) n.387T>G c.605T>G (p.Leu202Ter) c.558T>G c.1262T>G (p.Leu421Ter) c.590T>G (p.Leu197Ter) | |
8 | g.43193834A= | CA1779760601 | HGSNAT | c.1455A= (p.Leu485=) n.388A= c.606A= (p.Leu202=) c.559A= c.1263A= (p.Leu421=) c.591A= (p.Leu197=) | |
8 | g.43193834A>C | CA371119972 | HGSNAT | c.1455A>C (p.Leu485Phe) n.388A>C c.606A>C (p.Leu202Phe) c.559A>C c.1263A>C (p.Leu421Phe) c.591A>C (p.Leu197Phe) | |
8 | g.43193834A>G | CA460579348 | HGSNAT | c.1455A>G (p.Leu485=) n.388A>G c.606A>G (p.Leu202=) c.559A>G c.1263A>G (p.Leu421=) c.591A>G (p.Leu197=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.43193834A>T | CA371119973 | HGSNAT | c.1455A>T (p.Leu485Phe) n.388A>T c.606A>T (p.Leu202Phe) c.559A>T c.1263A>T (p.Leu421Phe) c.591A>T (p.Leu197Phe) | |
8 | g.43193834dup | CA2580614355 | HGSNAT | c.1455dup (p.Gly486ArgfsTer?) n.388dup c.606dup (p.Gly203ArgfsTer?) c.559dup c.1263dup (p.Gly422ArgfsTer?) c.591dup (p.Gly198ArgfsTer?) | ClinVar |
8 | g.43193835G>A | CA4736882 | HGSNAT | c.1456G>A (p.Gly486Arg) n.389G>A c.607G>A (p.Gly203Arg) c.560G>A c.1264G>A (p.Gly422Arg) c.592G>A (p.Gly198Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43193835G>C | CA371119975 | HGSNAT | c.1456G>C (p.Gly486Arg) n.389G>C c.607G>C (p.Gly203Arg) c.560G>C c.1264G>C (p.Gly422Arg) c.592G>C (p.Gly198Arg) | |
8 | g.43193835G= | CA1779760602 | HGSNAT | c.1456G= (p.Gly486=) n.389G= c.607G= (p.Gly203=) c.560G= c.1264G= (p.Gly422=) c.592G= (p.Gly198=) | |
8 | g.43193835G>T | CA371119974 | HGSNAT | c.1456G>T (p.Gly486Ter) n.389G>T c.607G>T (p.Gly203Ter) c.560G>T c.1264G>T (p.Gly422Ter) c.592G>T (p.Gly198Ter) | |
8 | g.43193836G>A | CA371119976 | HGSNAT | c.1457G>A (p.Gly486Glu) n.390G>A c.608G>A (p.Gly203Glu) c.561G>A c.1265G>A (p.Gly422Glu) c.593G>A (p.Gly198Glu) | |
8 | g.43193836G>C | CA371119978 | HGSNAT | c.1457G>C (p.Gly486Ala) n.390G>C c.608G>C (p.Gly203Ala) c.561G>C c.1265G>C (p.Gly422Ala) c.593G>C (p.Gly198Ala) | gnomAD v4 |
8 | g.43193836G= | CA1779760603 | HGSNAT | c.1457G= (p.Gly486=) n.390G= c.608G= (p.Gly203=) c.561G= c.1265G= (p.Gly422=) c.593G= (p.Gly198=) | |
8 | g.43193836G>T | CA371119977 | HGSNAT | c.1457G>T (p.Gly486Val) n.390G>T c.608G>T (p.Gly203Val) c.561G>T c.1265G>T (p.Gly422Val) c.593G>T (p.Gly198Val) | ClinVar dbSNP |
8 | g.43193837A= | CA1779760604 | HGSNAT | c.1458A= (p.Gly486=) n.391A= c.609A= (p.Gly203=) c.562A= c.1266A= (p.Gly422=) c.594A= (p.Gly198=) | |
8 | g.43193837A>C | CA460579359 | HGSNAT | c.1458A>C (p.Gly486=) n.391A>C c.609A>C (p.Gly203=) c.562A>C c.1266A>C (p.Gly422=) c.594A>C (p.Gly198=) | |
8 | g.43193837A>G | CA4736883 | HGSNAT | c.1458A>G (p.Gly486=) n.391A>G c.609A>G (p.Gly203=) c.562A>G c.1266A>G (p.Gly422=) c.594A>G (p.Gly198=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43193837A>T | CA460579362 | HGSNAT | c.1458A>T (p.Gly486=) n.391A>T c.609A>T (p.Gly203=) c.562A>T c.1266A>T (p.Gly422=) c.594A>T (p.Gly198=) | |
8 | g.43193838G>A | CA371119979 | HGSNAT | c.1459G>A (p.Val487Ile) n.392G>A c.610G>A (p.Val204Ile) c.563G>A c.1267G>A (p.Val423Ile) c.595G>A (p.Val199Ile) | gnomAD v4 |
8 | g.43193838G>C | CA371119980 | HGSNAT | c.1459G>C (p.Val487Leu) n.392G>C c.610G>C (p.Val204Leu) c.563G>C c.1267G>C (p.Val423Leu) c.595G>C (p.Val199Leu) | |
8 | g.43193838G>T | CA371119981 | HGSNAT | c.1459G>T (p.Val487Phe) n.392G>T c.610G>T (p.Val204Phe) c.563G>T c.1267G>T (p.Val423Phe) c.595G>T (p.Val199Phe) | |
8 | g.43193839T>A | CA371119982 | HGSNAT | c.1460T>A (p.Val487Asp) n.393T>A c.611T>A (p.Val204Asp) c.564T>A c.1268T>A (p.Val423Asp) c.596T>A (p.Val199Asp) | |
8 | g.43193839T>C | CA371119983 | HGSNAT | c.1460T>C (p.Val487Ala) n.393T>C c.611T>C (p.Val204Ala) c.564T>C c.1268T>C (p.Val423Ala) c.596T>C (p.Val199Ala) | |
8 | g.43193839T>G | CA371119984 | HGSNAT | c.1460T>G (p.Val487Gly) n.393T>G c.611T>G (p.Val204Gly) c.564T>G c.1268T>G (p.Val423Gly) c.596T>G (p.Val199Gly) | |
8 | g.43193840T>A | CA460579371 | HGSNAT | c.1461T>A (p.Val487=) n.394T>A c.612T>A (p.Val204=) c.565T>A c.1269T>A (p.Val423=) c.597T>A (p.Val199=) | |
8 | g.43193840T>C | CA460579372 | HGSNAT | c.1461T>C (p.Val487=) n.394T>C c.612T>C (p.Val204=) c.565T>C c.1269T>C (p.Val423=) c.597T>C (p.Val199=) | |
8 | g.43193840T>G | CA460579369 | HGSNAT | c.1461T>G (p.Val487=) n.394T>G c.612T>G (p.Val204=) c.565T>G c.1269T>G (p.Val423=) c.597T>G (p.Val199=) | |
8 | g.43193841C>A | CA371119985 | HGSNAT | c.1462C>A (p.Gln488Lys) n.395C>A c.613C>A (p.Gln205Lys) c.566C>A c.1270C>A (p.Gln424Lys) c.598C>A (p.Gln200Lys) | |
8 | g.43193841C>G | CA371119986 | HGSNAT | c.1462C>G (p.Gln488Glu) n.395C>G c.613C>G (p.Gln205Glu) c.566C>G c.1270C>G (p.Gln424Glu) c.598C>G (p.Gln200Glu) | |
8 | g.43193841C>T | CA371119987 | HGSNAT | c.1462C>T (p.Gln488Ter) n.395C>T c.613C>T (p.Gln205Ter) c.566C>T c.1270C>T (p.Gln424Ter) c.598C>T (p.Gln200Ter) | gnomAD v4 |
8 | g.43193842A>C | CA371119988 | HGSNAT | c.1463A>C (p.Gln488Pro) n.396A>C c.614A>C (p.Gln205Pro) c.567A>C c.1271A>C (p.Gln424Pro) c.599A>C (p.Gln200Pro) | |
8 | g.43193842A>G | CA371119989 | HGSNAT | c.1463A>G (p.Gln488Arg) n.396A>G c.614A>G (p.Gln205Arg) c.567A>G c.1271A>G (p.Gln424Arg) c.599A>G (p.Gln200Arg) | |
8 | g.43193842A>T | CA371119990 | HGSNAT | c.1463A>T (p.Gln488Leu) n.396A>T c.614A>T (p.Gln205Leu) c.567A>T c.1271A>T (p.Gln424Leu) c.599A>T (p.Gln200Leu) | |
8 | g.43193843G>A | CA460579380 | HGSNAT | c.1464G>A (p.Gln488=) n.397G>A c.615G>A (p.Gln205=) c.568G>A c.1272G>A (p.Gln424=) c.600G>A (p.Gln200=) | |
8 | g.43193843G>C | CA371119991 | HGSNAT | c.1464G>C (p.Gln488His) n.397G>C c.615G>C (p.Gln205His) c.568G>C c.1272G>C (p.Gln424His) c.600G>C (p.Gln200His) | |
8 | g.43193843G>T | CA371119992 | HGSNAT | c.1464G>T (p.Gln488His) n.397G>T c.615G>T (p.Gln205His) c.568G>T c.1272G>T (p.Gln424His) c.600G>T (p.Gln200His) | |
8 | g.43193844del | CA2573143123 | HGSNAT | c.1464+1del n.398del c.615+1del c.568+1del c.1272+1del c.600+1del | ClinVar dbSNP |
8 | g.43193844G>A | CA224187 | HGSNAT | c.1464+1G>A (n.1464+1G>A) n.398G>A c.615+1G>A (n.615+1G>A) c.568+1G>A c.1272+1G>A (n.1272+1G>A) c.600+1G>A (n.600+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43193844G>C | CA371119993 | HGSNAT | c.1464+1G>C (n.1464+1G>C) n.398G>C c.615+1G>C (n.615+1G>C) c.568+1G>C c.1272+1G>C (n.1272+1G>C) c.600+1G>C (n.600+1G>C) | |
8 | g.43193844G= | CA1779760605 | HGSNAT | c.1464+1G= (n.1464+1G=) n.398G= c.615+1G= (n.615+1G=) c.568+1G= c.1272+1G= (n.1272+1G=) c.600+1G= (n.600+1G=) | |
8 | g.43193844G>T | CA371119994 | HGSNAT | c.1464+1G>T (n.1464+1G>T) n.398G>T c.615+1G>T (n.615+1G>T) c.568+1G>T c.1272+1G>T (n.1272+1G>T) c.600+1G>T (n.600+1G>T) | |
8 | g.43193845T>A | CA371119995 | HGSNAT | c.1464+2T>A (n.1464+2T>A) n.399T>A c.615+2T>A (n.615+2T>A) c.568+2T>A c.1272+2T>A (n.1272+2T>A) c.600+2T>A (n.600+2T>A) | |
8 | g.43193845T>C | CA371119996 | HGSNAT | c.1464+2T>C (n.1464+2T>C) n.399T>C c.615+2T>C (n.615+2T>C) c.568+2T>C c.1272+2T>C (n.1272+2T>C) c.600+2T>C (n.600+2T>C) | |
8 | g.43193845T>G | CA371119997 | HGSNAT | c.1464+2T>G (n.1464+2T>G) n.399T>G c.615+2T>G (n.615+2T>G) c.568+2T>G c.1272+2T>G (n.1272+2T>G) c.600+2T>G (n.600+2T>G) | |
8 | g.43193846A= | CA1779760606 | HGSNAT | c.1464+3A= (n.1464+3A=) n.400A= c.615+3A= (n.615+3A=) c.568+3A= c.1272+3A= (n.1272+3A=) c.600+3A= (n.600+3A=) | |
8 | g.43193846A>G | CA581638362 | HGSNAT | c.1464+3A>G (n.1464+3A>G) n.400A>G c.615+3A>G (n.615+3A>G) c.568+3A>G c.1272+3A>G (n.1272+3A>G) c.600+3A>G (n.600+3A>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43193850G>A | CA2687152022 | HGSNAT | c.1464+7G>A (n.1464+7G>A) n.404G>A c.615+7G>A (n.615+7G>A) c.568+7G>A c.1272+7G>A (n.1272+7G>A) c.600+7G>A (n.600+7G>A) | gnomAD v4 |
8 | g.43193850_43193855delinsGTTCAT | CA1779760607 | HGSNAT | c.1464+7_1464+12delinsGTTCAT (n.1464+7_1464+12delinsGTTCAT) n.404_409delinsGTTCAT c.615+7_615+12delinsGTTCAT (n.615+7_615+12delinsGTTCAT) c.568+7_568+12delinsGTTCAT c.1272+7_1272+12delinsGTTCAT (n.1272+7_1272+12delinsGTTCAT) c.600+7_600+12delinsGTTCAT (n.600+7_600+12delinsGTTCAT) | |
8 | g.43193857_43193861del | CA1779760608 | HGSNAT | c.1464+14_1464+18del (n.1464+14_1464+18del) n.411_415del c.615+14_615+18del (n.615+14_615+18del) c.568+14_568+18del c.1272+14_1272+18del (n.1272+14_1272+18del) c.600+14_600+18del (n.600+14_600+18del) | ClinVar dbSNP gnomAD v4 |
8 | g.43193852T>A | CA2499219320 | HGSNAT | c.1464+9T>A (n.1464+9T>A) n.406T>A c.615+9T>A (n.615+9T>A) c.568+9T>A c.1272+9T>A (n.1272+9T>A) c.600+9T>A (n.600+9T>A) | ClinVar dbSNP |
8 | g.43193852T>G | CA1779760610 | HGSNAT | c.1464+9T>G (n.1464+9T>G) n.406T>G c.615+9T>G (n.615+9T>G) c.568+9T>G c.1272+9T>G (n.1272+9T>G) c.600+9T>G (n.600+9T>G) | dbSNP |
8 | g.43193852T= | CA1779760609 | HGSNAT | c.1464+9T= (n.1464+9T=) n.406T= c.615+9T= (n.615+9T=) c.568+9T= c.1272+9T= (n.1272+9T=) c.600+9T= (n.600+9T=) | |
8 | g.43193853C>A | CA2580078509 | HGSNAT | c.1464+10C>A (n.1464+10C>A) n.407C>A c.615+10C>A (n.615+10C>A) c.568+10C>A c.1272+10C>A (n.1272+10C>A) c.600+10C>A (n.600+10C>A) | ClinVar gnomAD v4 |
8 | g.43193854A= | CA1779760611 | HGSNAT | c.1464+11A= (n.1464+11A=) n.408A= c.615+11A= (n.615+11A=) c.568+11A= c.1272+11A= (n.1272+11A=) c.600+11A= (n.600+11A=) | |
8 | g.43193854A>C | CA176074521 | HGSNAT | c.1464+11A>C (n.1464+11A>C) n.408A>C c.615+11A>C (n.615+11A>C) c.568+11A>C c.1272+11A>C (n.1272+11A>C) c.600+11A>C (n.600+11A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.43193854A>G | CA581638363 | HGSNAT | c.1464+11A>G (n.1464+11A>G) n.408A>G c.615+11A>G (n.615+11A>G) c.568+11A>G c.1272+11A>G (n.1272+11A>G) c.600+11A>G (n.600+11A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.43193856T>C | CA2687152027 | HGSNAT | c.1464+13T>C (n.1464+13T>C) n.410T>C c.615+13T>C (n.615+13T>C) c.568+13T>C c.1272+13T>C (n.1272+13T>C) c.600+13T>C (n.600+13T>C) | gnomAD v4 |
8 | g.43193858C>A | CA2579159361 | HGSNAT | c.1464+15C>A (n.1464+15C>A) n.412C>A c.615+15C>A (n.615+15C>A) c.568+15C>A c.1272+15C>A (n.1272+15C>A) c.600+15C>A (n.600+15C>A) | |
8 | g.43193858C>T | CA2779901435 | HGSNAT | c.1464+15C>T (n.1464+15C>T) n.412C>T c.615+15C>T (n.615+15C>T) c.568+15C>T c.1272+15C>T (n.1272+15C>T) c.600+15C>T (n.600+15C>T) | |
8 | g.43193860T>C | CA1113290587 | HGSNAT | c.1464+17T>C (n.1464+17T>C) n.414T>C c.615+17T>C (n.615+17T>C) c.568+17T>C c.1272+17T>C (n.1272+17T>C) c.600+17T>C (n.600+17T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.43193860T= | CA1779760612 | HGSNAT | c.1464+17T= (n.1464+17T=) n.414T= c.615+17T= (n.615+17T=) c.568+17T= c.1272+17T= (n.1272+17T=) c.600+17T= (n.600+17T=) | |
8 | g.43193861del | CA2687152029 | HGSNAT | c.1464+18del (n.1464+18del) n.415del c.615+18del (n.615+18del) c.568+18del c.1272+18del (n.1272+18del) c.600+18del (n.600+18del) | gnomAD v4 |
8 | g.43193863G>T | CA2740934119 | HGSNAT | c.1464+20G>T (n.1464+20G>T) n.417G>T c.615+20G>T (n.615+20G>T) c.568+20G>T c.1272+20G>T (n.1272+20G>T) c.600+20G>T (n.600+20G>T) | |
8 | g.43193864G>A | CA2687152030 | HGSNAT | c.1464+21G>A (n.1464+21G>A) n.418G>A c.615+21G>A (n.615+21G>A) c.568+21G>A c.1272+21G>A (n.1272+21G>A) c.600+21G>A (n.600+21G>A) | gnomAD v4 |
8 | g.43193869T>G | CA4736884 | HGSNAT | c.1464+26T>G (n.1464+26T>G) n.423T>G c.615+26T>G (n.615+26T>G) c.568+26T>G c.1272+26T>G (n.1272+26T>G) c.600+26T>G (n.600+26T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43193869T= | CA1779760613 | HGSNAT | c.1464+26T= (n.1464+26T=) n.423T= c.615+26T= (n.615+26T=) c.568+26T= c.1272+26T= (n.1272+26T=) c.600+26T= (n.600+26T=) | |
8 | g.43193870T>C | CA2687152031 | HGSNAT | c.1464+27T>C (n.1464+27T>C) n.424T>C c.615+27T>C (n.615+27T>C) c.568+27T>C c.1272+27T>C (n.1272+27T>C) c.600+27T>C (n.600+27T>C) | gnomAD v4 |
8 | g.43193871T>A | CA2579159363 | HGSNAT | c.1464+28T>A (n.1464+28T>A) n.425T>A c.615+28T>A (n.615+28T>A) c.568+28T>A c.1272+28T>A (n.1272+28T>A) c.600+28T>A (n.600+28T>A) | |
8 | g.43193871T>C | CA2579159362 | HGSNAT | c.1464+28T>C (n.1464+28T>C) n.425T>C c.615+28T>C (n.615+28T>C) c.568+28T>C c.1272+28T>C (n.1272+28T>C) c.600+28T>C (n.600+28T>C) | gnomAD v4 |