| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.43199407A>C | CA460580556 | HGSNAT | c.1746A>C (p.Val582=) n.1062A>C c.897A>C (p.Val299=) c.1857A>C (p.Val619=) c.1833A>C (p.Val611=) c.1665A>C (p.Val555=) c.1554A>C (p.Val518=) c.882A>C (p.Val294=) | |
| 8 | g.43199407A>G | CA460580557 | HGSNAT | c.1746A>G (p.Val582=) n.1062A>G c.897A>G (p.Val299=) c.1857A>G (p.Val619=) c.1833A>G (p.Val611=) c.1665A>G (p.Val555=) c.1554A>G (p.Val518=) c.882A>G (p.Val294=) | ClinVar gnomAD v4 |
| 8 | g.43199407A>T | CA460580558 | HGSNAT | c.1746A>T (p.Val582=) n.1062A>T c.897A>T (p.Val299=) c.1857A>T (p.Val619=) c.1833A>T (p.Val611=) c.1665A>T (p.Val555=) c.1554A>T (p.Val518=) c.882A>T (p.Val294=) | |
| 8 | g.43199408T>A | CA371121093 | HGSNAT | c.1747T>A (p.Tyr583Asn) n.1063T>A c.898T>A (p.Tyr300Asn) c.1858T>A (p.Tyr620Asn) c.1834T>A (p.Tyr612Asn) c.1666T>A (p.Tyr556Asn) c.1555T>A (p.Tyr519Asn) c.883T>A (p.Tyr295Asn) | |
| 8 | g.43199408T>C | CA371121096 | HGSNAT | c.1747T>C (p.Tyr583His) n.1063T>C c.898T>C (p.Tyr300His) c.1858T>C (p.Tyr620His) c.1834T>C (p.Tyr612His) c.1666T>C (p.Tyr556His) c.1555T>C (p.Tyr519His) c.883T>C (p.Tyr295His) | |
| 8 | g.43199408T>G | CA371121099 | HGSNAT | c.1747T>G (p.Tyr583Asp) n.1063T>G c.898T>G (p.Tyr300Asp) c.1858T>G (p.Tyr620Asp) c.1834T>G (p.Tyr612Asp) c.1666T>G (p.Tyr556Asp) c.1555T>G (p.Tyr519Asp) c.883T>G (p.Tyr295Asp) | |
| 8 | g.43199409A>C | CA371121103 | HGSNAT | c.1748A>C (p.Tyr583Ser) n.1064A>C c.899A>C (p.Tyr300Ser) c.1859A>C (p.Tyr620Ser) c.1835A>C (p.Tyr612Ser) c.1667A>C (p.Tyr556Ser) c.1556A>C (p.Tyr519Ser) c.884A>C (p.Tyr295Ser) | gnomAD v4 |
| 8 | g.43199409A>G | CA371121101 | HGSNAT | c.1748A>G (p.Tyr583Cys) n.1064A>G c.899A>G (p.Tyr300Cys) c.1859A>G (p.Tyr620Cys) c.1835A>G (p.Tyr612Cys) c.1667A>G (p.Tyr556Cys) c.1556A>G (p.Tyr519Cys) c.884A>G (p.Tyr295Cys) | |
| 8 | g.43199409A>T | CA371121100 | HGSNAT | c.1748A>T (p.Tyr583Phe) n.1064A>T c.899A>T (p.Tyr300Phe) c.1859A>T (p.Tyr620Phe) c.1835A>T (p.Tyr612Phe) c.1667A>T (p.Tyr556Phe) c.1556A>T (p.Tyr519Phe) c.884A>T (p.Tyr295Phe) | |
| 8 | g.43199410T>A | CA371121104 | HGSNAT | c.1749T>A (p.Tyr583Ter) n.1065T>A c.900T>A (p.Tyr300Ter) c.1860T>A (p.Tyr620Ter) c.1836T>A (p.Tyr612Ter) c.1668T>A (p.Tyr556Ter) c.1557T>A (p.Tyr519Ter) c.885T>A (p.Tyr295Ter) | gnomAD v4 |
| 8 | g.43199410T>C | CA149560 | HGSNAT | c.1749T>C (p.Tyr583=) n.1065T>C c.900T>C (p.Tyr300=) c.1860T>C (p.Tyr620=) c.1836T>C (p.Tyr612=) c.1668T>C (p.Tyr556=) c.1557T>C (p.Tyr519=) c.885T>C (p.Tyr295=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199410T>G | CA371121108 | HGSNAT | c.1749T>G (p.Tyr583Ter) n.1065T>G c.900T>G (p.Tyr300Ter) c.1860T>G (p.Tyr620Ter) c.1836T>G (p.Tyr612Ter) c.1668T>G (p.Tyr556Ter) c.1557T>G (p.Tyr519Ter) c.885T>G (p.Tyr295Ter) | |
| 8 | g.43199410T= | CA1779777484 | HGSNAT | c.1749T= (p.Tyr583=) n.1065T= c.900T= (p.Tyr300=) c.1860T= (p.Tyr620=) c.1836T= (p.Tyr612=) c.1668T= (p.Tyr556=) c.1557T= (p.Tyr519=) c.885T= (p.Tyr295=) | |
| 8 | g.43199410_43199411delinsCA | CA2580078321 | HGSNAT | c.1749_1750delinsCA (p.Val584Ile) n.1065_1066delinsCA c.900_901delinsCA (p.Val301Ile) c.1860_1861delinsCA (p.Val621Ile) c.1836_1837delinsCA (p.Val613Ile) c.1668_1669delinsCA (p.Val557Ile) c.1557_1558delinsCA (p.Val520Ile) c.885_886delinsCA (p.Val296Ile) | ClinVar |
| 8 | g.43199410_43199411insCGTCTCTCTCCTTAAGGAATGAATTCCATTCTGGTATAC | CA1113295726 | HGSNAT | c.1749_1750insCGTCTCTCTCCTTAAGGAATGAATTCCATTCTGGTATAC n.1065_1066insCGTCTCTCTCCTTAAGGAATGAATTCCATTCTGGTATAC c.900_901insCGTCTCTCTCCTTAAGGAATGAATTCCATTCTGGTATAC c.1860_1861insCGTCTCTCTCCTTAAGGAATGAATTCCATTCTGGTATAC c.1836_1837insCGTCTCTCTCCTTAAGGAATGAATTCCATTCTGGTATAC c.1668_1669insCGTCTCTCTCCTTAAGGAATGAATTCCATTCTGGTATAC c.1557_1558insCGTCTCTCTCCTTAAGGAATGAATTCCATTCTGGTATAC c.885_886insCGTCTCTCTCCTTAAGGAATGAATTCCATTCTGGTATAC | gnomAD v3 gnomAD v4 |
| 8 | g.43199411del | CA2695209194 | HGSNAT | c.1750del (p.Val584SerfsTer16) n.1066del c.901del (p.Val301SerfsTer16) c.1861del (p.Val621SerfsTer16) c.1837del (p.Val613SerfsTer16) c.1669del (p.Val557SerfsTer16) c.1558del (p.Val520SerfsTer16) c.886del (p.Val296SerfsTer16) | |
| 8 | g.43199411G>A | CA4737019 | HGSNAT | c.1750G>A (p.Val584Ile) n.1066G>A c.901G>A (p.Val301Ile) c.1861G>A (p.Val621Ile) c.1837G>A (p.Val613Ile) c.1669G>A (p.Val557Ile) c.1558G>A (p.Val520Ile) c.886G>A (p.Val296Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199411G>C | CA371121110 | HGSNAT | c.1750G>C (p.Val584Leu) n.1066G>C c.901G>C (p.Val301Leu) c.1861G>C (p.Val621Leu) c.1837G>C (p.Val613Leu) c.1669G>C (p.Val557Leu) c.1558G>C (p.Val520Leu) c.886G>C (p.Val296Leu) | |
| 8 | g.43199411G= | CA1779777485 | HGSNAT | c.1750G= (p.Val584=) n.1066G= c.901G= (p.Val301=) c.1861G= (p.Val621=) c.1837G= (p.Val613=) c.1669G= (p.Val557=) c.1558G= (p.Val520=) c.886G= (p.Val296=) | |
| 8 | g.43199411G>T | CA371121113 | HGSNAT | c.1750G>T (p.Val584Phe) n.1066G>T c.901G>T (p.Val301Phe) c.1861G>T (p.Val621Phe) c.1837G>T (p.Val613Phe) c.1669G>T (p.Val557Phe) c.1558G>T (p.Val520Phe) c.886G>T (p.Val296Phe) | |
| 8 | g.43199412T>A | CA371121115 | HGSNAT | c.1751T>A (p.Val584Asp) n.1067T>A c.902T>A (p.Val301Asp) c.1862T>A (p.Val621Asp) c.1838T>A (p.Val613Asp) c.1670T>A (p.Val557Asp) c.1559T>A (p.Val520Asp) c.887T>A (p.Val296Asp) | |
| 8 | g.43199412T>C | CA371121117 | HGSNAT | c.1751T>C (p.Val584Ala) n.1067T>C c.902T>C (p.Val301Ala) c.1862T>C (p.Val621Ala) c.1838T>C (p.Val613Ala) c.1670T>C (p.Val557Ala) c.1559T>C (p.Val520Ala) c.887T>C (p.Val296Ala) | |
| 8 | g.43199412T>G | CA371121119 | HGSNAT | c.1751T>G (p.Val584Gly) n.1067T>G c.902T>G (p.Val301Gly) c.1862T>G (p.Val621Gly) c.1838T>G (p.Val613Gly) c.1670T>G (p.Val557Gly) c.1559T>G (p.Val520Gly) c.887T>G (p.Val296Gly) | gnomAD v4 |
| 8 | g.43199413C>A | CA460580561 | HGSNAT | c.1752C>A (p.Val584=) n.1068C>A c.903C>A (p.Val301=) c.1863C>A (p.Val621=) c.1839C>A (p.Val613=) c.1671C>A (p.Val557=) c.1560C>A (p.Val520=) c.888C>A (p.Val296=) | ClinVar gnomAD v4 |
| 8 | g.43199413C= | CA1779777486 | HGSNAT | c.1752C= (p.Val584=) n.1068C= c.903C= (p.Val301=) c.1863C= (p.Val621=) c.1839C= (p.Val613=) c.1671C= (p.Val557=) c.1560C= (p.Val520=) c.888C= (p.Val296=) | |
| 8 | g.43199413C>G | CA460580562 | HGSNAT | c.1752C>G (p.Val584=) n.1068C>G c.903C>G (p.Val301=) c.1863C>G (p.Val621=) c.1839C>G (p.Val613=) c.1671C>G (p.Val557=) c.1560C>G (p.Val520=) c.888C>G (p.Val296=) | |
| 8 | g.43199413C>T | CA4737020 | HGSNAT | c.1752C>T (p.Val584=) n.1068C>T c.903C>T (p.Val301=) c.1863C>T (p.Val621=) c.1839C>T (p.Val613=) c.1671C>T (p.Val557=) c.1560C>T (p.Val520=) c.888C>T (p.Val296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199414G>A | CA4737021 | HGSNAT | c.1753G>A (p.Gly585Ser) n.1069G>A c.904G>A (p.Gly302Ser) c.1864G>A (p.Gly622Ser) c.1840G>A (p.Gly614Ser) c.1672G>A (p.Gly558Ser) c.1561G>A (p.Gly521Ser) c.889G>A (p.Gly297Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199414G>C | CA371121124 | HGSNAT | c.1753G>C (p.Gly585Arg) n.1069G>C c.904G>C (p.Gly302Arg) c.1864G>C (p.Gly622Arg) c.1840G>C (p.Gly614Arg) c.1672G>C (p.Gly558Arg) c.1561G>C (p.Gly521Arg) c.889G>C (p.Gly297Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.43199414G= | CA1779777487 | HGSNAT | c.1753G= (p.Gly585=) n.1069G= c.904G= (p.Gly302=) c.1864G= (p.Gly622=) c.1840G= (p.Gly614=) c.1672G= (p.Gly558=) c.1561G= (p.Gly521=) c.889G= (p.Gly297=) | |
| 8 | g.43199414G>T | CA371121126 | HGSNAT | c.1753G>T (p.Gly585Cys) n.1069G>T c.904G>T (p.Gly302Cys) c.1864G>T (p.Gly622Cys) c.1840G>T (p.Gly614Cys) c.1672G>T (p.Gly558Cys) c.1561G>T (p.Gly521Cys) c.889G>T (p.Gly297Cys) | gnomAD v4 |
| 8 | g.43199415G>A | CA371121134 | HGSNAT | c.1754G>A (p.Gly585Asp) n.1070G>A c.905G>A (p.Gly302Asp) c.1865G>A (p.Gly622Asp) c.1841G>A (p.Gly614Asp) c.1673G>A (p.Gly558Asp) c.1562G>A (p.Gly521Asp) c.890G>A (p.Gly297Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43199415G>C | CA371121130 | HGSNAT | c.1754G>C (p.Gly585Ala) n.1070G>C c.905G>C (p.Gly302Ala) c.1865G>C (p.Gly622Ala) c.1841G>C (p.Gly614Ala) c.1673G>C (p.Gly558Ala) c.1562G>C (p.Gly521Ala) c.890G>C (p.Gly297Ala) | |
| 8 | g.43199415G= | CA1779777488 | HGSNAT | c.1754G= (p.Gly585=) n.1070G= c.905G= (p.Gly302=) c.1865G= (p.Gly622=) c.1841G= (p.Gly614=) c.1673G= (p.Gly558=) c.1562G= (p.Gly521=) c.890G= (p.Gly297=) | |
| 8 | g.43199415G>T | CA371121131 | HGSNAT | c.1754G>T (p.Gly585Val) n.1070G>T c.905G>T (p.Gly302Val) c.1865G>T (p.Gly622Val) c.1841G>T (p.Gly614Val) c.1673G>T (p.Gly558Val) c.1562G>T (p.Gly521Val) c.890G>T (p.Gly297Val) | |
| 8 | g.43199416C>A | CA460580563 | HGSNAT | c.1755C>A (p.Gly585=) n.1071C>A c.906C>A (p.Gly302=) c.1866C>A (p.Gly622=) c.1842C>A (p.Gly614=) c.1674C>A (p.Gly558=) c.1563C>A (p.Gly521=) c.891C>A (p.Gly297=) | gnomAD v4 |
| 8 | g.43199416C>G | CA460580564 | HGSNAT | c.1755C>G (p.Gly585=) n.1071C>G c.906C>G (p.Gly302=) c.1866C>G (p.Gly622=) c.1842C>G (p.Gly614=) c.1674C>G (p.Gly558=) c.1563C>G (p.Gly521=) c.891C>G (p.Gly297=) | |
| 8 | g.43199416C>T | CA460580565 | HGSNAT | c.1755C>T (p.Gly585=) n.1071C>T c.906C>T (p.Gly302=) c.1866C>T (p.Gly622=) c.1842C>T (p.Gly614=) c.1674C>T (p.Gly558=) c.1563C>T (p.Gly521=) c.891C>T (p.Gly297=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.43199417C>A | CA371121137 | HGSNAT | c.1756C>A (p.His586Asn) n.1072C>A c.907C>A (p.His303Asn) c.1867C>A (p.His623Asn) c.1843C>A (p.His615Asn) c.1675C>A (p.His559Asn) c.1564C>A (p.His522Asn) c.892C>A (p.His298Asn) | |
| 8 | g.43199417C>G | CA371121139 | HGSNAT | c.1756C>G (p.His586Asp) n.1072C>G c.907C>G (p.His303Asp) c.1867C>G (p.His623Asp) c.1843C>G (p.His615Asp) c.1675C>G (p.His559Asp) c.1564C>G (p.His522Asp) c.892C>G (p.His298Asp) | |
| 8 | g.43199417C>T | CA371121140 | HGSNAT | c.1756C>T (p.His586Tyr) n.1072C>T c.907C>T (p.His303Tyr) c.1867C>T (p.His623Tyr) c.1843C>T (p.His615Tyr) c.1675C>T (p.His559Tyr) c.1564C>T (p.His522Tyr) c.892C>T (p.His298Tyr) | |
| 8 | g.43199418A>C | CA371121144 | HGSNAT | c.1757A>C (p.His586Pro) n.1073A>C c.908A>C (p.His303Pro) c.1868A>C (p.His623Pro) c.1844A>C (p.His615Pro) c.1676A>C (p.His559Pro) c.1565A>C (p.His522Pro) c.893A>C (p.His298Pro) | |
| 8 | g.43199418A>G | CA371121145 | HGSNAT | c.1757A>G (p.His586Arg) n.1073A>G c.908A>G (p.His303Arg) c.1868A>G (p.His623Arg) c.1844A>G (p.His615Arg) c.1676A>G (p.His559Arg) c.1565A>G (p.His522Arg) c.893A>G (p.His298Arg) | |
| 8 | g.43199418A>T | CA371121146 | HGSNAT | c.1757A>T (p.His586Leu) n.1073A>T c.908A>T (p.His303Leu) c.1868A>T (p.His623Leu) c.1844A>T (p.His615Leu) c.1676A>T (p.His559Leu) c.1565A>T (p.His522Leu) c.893A>T (p.His298Leu) | |
| 8 | g.43199419C>A | CA371121148 | HGSNAT | c.1758C>A (p.His586Gln) n.1074C>A c.909C>A (p.His303Gln) c.1869C>A (p.His623Gln) c.1845C>A (p.His615Gln) c.1677C>A (p.His559Gln) c.1566C>A (p.His522Gln) c.894C>A (p.His298Gln) | |
| 8 | g.43199419C= | CA1779777489 | HGSNAT | c.1758C= (p.His586=) n.1074C= c.909C= (p.His303=) c.1869C= (p.His623=) c.1845C= (p.His615=) c.1677C= (p.His559=) c.1566C= (p.His522=) c.894C= (p.His298=) | |
| 8 | g.43199419C>G | CA371121151 | HGSNAT | c.1758C>G (p.His586Gln) n.1074C>G c.909C>G (p.His303Gln) c.1869C>G (p.His623Gln) c.1845C>G (p.His615Gln) c.1677C>G (p.His559Gln) c.1566C>G (p.His522Gln) c.894C>G (p.His298Gln) | COSMIC COSMIC |
| 8 | g.43199419C>T | CA460580566 | HGSNAT | c.1758C>T (p.His586=) n.1074C>T c.909C>T (p.His303=) c.1869C>T (p.His623=) c.1845C>T (p.His615=) c.1677C>T (p.His559=) c.1566C>T (p.His522=) c.894C>T (p.His298=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43199420G>A | CA4737022 | HGSNAT | c.1759G>A (p.Glu587Lys) n.1075G>A c.910G>A (p.Glu304Lys) c.1870G>A (p.Glu624Lys) c.1846G>A (p.Glu616Lys) c.1678G>A (p.Glu560Lys) c.1567G>A (p.Glu523Lys) c.895G>A (p.Glu299Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.43199420G>C | CA371121154 | HGSNAT | c.1759G>C (p.Glu587Gln) n.1075G>C c.910G>C (p.Glu304Gln) c.1870G>C (p.Glu624Gln) c.1846G>C (p.Glu616Gln) c.1678G>C (p.Glu560Gln) c.1567G>C (p.Glu523Gln) c.895G>C (p.Glu299Gln) | |
| 8 | g.43199420G= | CA1779777490 | HGSNAT | c.1759G= (p.Glu587=) n.1075G= c.910G= (p.Glu304=) c.1870G= (p.Glu624=) c.1846G= (p.Glu616=) c.1678G= (p.Glu560=) c.1567G= (p.Glu523=) c.895G= (p.Glu299=) | |
| 8 | g.43199420G>T | CA371121157 | HGSNAT | c.1759G>T (p.Glu587Ter) n.1075G>T c.910G>T (p.Glu304Ter) c.1870G>T (p.Glu624Ter) c.1846G>T (p.Glu616Ter) c.1678G>T (p.Glu560Ter) c.1567G>T (p.Glu523Ter) c.895G>T (p.Glu299Ter) | gnomAD v4 |
| 8 | g.43199421A>C | CA371121163 | HGSNAT | c.1760A>C (p.Glu587Ala) n.1076A>C c.911A>C (p.Glu304Ala) c.1871A>C (p.Glu624Ala) c.1847A>C (p.Glu616Ala) c.1679A>C (p.Glu560Ala) c.1568A>C (p.Glu523Ala) c.896A>C (p.Glu299Ala) | |
| 8 | g.43199421A>G | CA371121162 | HGSNAT | c.1760A>G (p.Glu587Gly) n.1076A>G c.911A>G (p.Glu304Gly) c.1871A>G (p.Glu624Gly) c.1847A>G (p.Glu616Gly) c.1679A>G (p.Glu560Gly) c.1568A>G (p.Glu523Gly) c.896A>G (p.Glu299Gly) | |
| 8 | g.43199421A>T | CA371121160 | HGSNAT | c.1760A>T (p.Glu587Val) n.1076A>T c.911A>T (p.Glu304Val) c.1871A>T (p.Glu624Val) c.1847A>T (p.Glu616Val) c.1679A>T (p.Glu560Val) c.1568A>T (p.Glu523Val) c.896A>T (p.Glu299Val) | |
| 8 | g.43199422G>A | CA460580567 | HGSNAT | c.1761G>A (p.Glu587=) n.1077G>A c.912G>A (p.Glu304=) c.1872G>A (p.Glu624=) c.1848G>A (p.Glu616=) c.1680G>A (p.Glu560=) c.1569G>A (p.Glu523=) c.897G>A (p.Glu299=) | |
| 8 | g.43199422G>C | CA371121165 | HGSNAT | c.1761G>C (p.Glu587Asp) n.1077G>C c.912G>C (p.Glu304Asp) c.1872G>C (p.Glu624Asp) c.1848G>C (p.Glu616Asp) c.1680G>C (p.Glu560Asp) c.1569G>C (p.Glu523Asp) c.897G>C (p.Glu299Asp) | |
| 8 | g.43199422G>T | CA371121167 | HGSNAT | c.1761G>T (p.Glu587Asp) n.1077G>T c.912G>T (p.Glu304Asp) c.1872G>T (p.Glu624Asp) c.1848G>T (p.Glu616Asp) c.1680G>T (p.Glu560Asp) c.1569G>T (p.Glu523Asp) c.897G>T (p.Glu299Asp) | gnomAD v4 |
| 8 | g.43199423G>A | CA4737023 | HGSNAT | c.1762G>A (p.Val588Met) n.1078G>A c.913G>A (p.Val305Met) c.1873G>A (p.Val625Met) c.1849G>A (p.Val617Met) c.1681G>A (p.Val561Met) c.1570G>A (p.Val524Met) c.898G>A (p.Val300Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43199423G>C | CA371121171 | HGSNAT | c.1762G>C (p.Val588Leu) n.1078G>C c.913G>C (p.Val305Leu) c.1873G>C (p.Val625Leu) c.1849G>C (p.Val617Leu) c.1681G>C (p.Val561Leu) c.1570G>C (p.Val524Leu) c.898G>C (p.Val300Leu) | |
| 8 | g.43199423G= | CA1779777491 | HGSNAT | c.1762G= (p.Val588=) n.1078G= c.913G= (p.Val305=) c.1873G= (p.Val625=) c.1849G= (p.Val617=) c.1681G= (p.Val561=) c.1570G= (p.Val524=) c.898G= (p.Val300=) | |
| 8 | g.43199423G>T | CA371121173 | HGSNAT | c.1762G>T (p.Val588Leu) n.1078G>T c.913G>T (p.Val305Leu) c.1873G>T (p.Val625Leu) c.1849G>T (p.Val617Leu) c.1681G>T (p.Val561Leu) c.1570G>T (p.Val524Leu) c.898G>T (p.Val300Leu) | COSMIC COSMIC |
| 8 | g.43199424T>A | CA371121177 | HGSNAT | c.1763T>A (p.Val588Glu) n.1079T>A c.914T>A (p.Val305Glu) c.1874T>A (p.Val625Glu) c.1850T>A (p.Val617Glu) c.1682T>A (p.Val561Glu) c.1571T>A (p.Val524Glu) c.899T>A (p.Val300Glu) | |
| 8 | g.43199424T>C | CA371121178 | HGSNAT | c.1763T>C (p.Val588Ala) n.1079T>C c.914T>C (p.Val305Ala) c.1874T>C (p.Val625Ala) c.1850T>C (p.Val617Ala) c.1682T>C (p.Val561Ala) c.1571T>C (p.Val524Ala) c.899T>C (p.Val300Ala) | |
| 8 | g.43199424T>G | CA371121181 | HGSNAT | c.1763T>G (p.Val588Gly) n.1079T>G c.914T>G (p.Val305Gly) c.1874T>G (p.Val625Gly) c.1850T>G (p.Val617Gly) c.1682T>G (p.Val561Gly) c.1571T>G (p.Val524Gly) c.899T>G (p.Val300Gly) | |
| 8 | g.43199425G>A | CA4737024 | HGSNAT | c.1764G>A (p.Val588=) n.1080G>A c.915G>A (p.Val305=) c.1875G>A (p.Val625=) c.1851G>A (p.Val617=) c.1683G>A (p.Val561=) c.1572G>A (p.Val524=) c.900G>A (p.Val300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43199425G>C | CA460580568 | HGSNAT | c.1764G>C (p.Val588=) n.1080G>C c.915G>C (p.Val305=) c.1875G>C (p.Val625=) c.1851G>C (p.Val617=) c.1683G>C (p.Val561=) c.1572G>C (p.Val524=) c.900G>C (p.Val300=) | |
| 8 | g.43199425G= | CA1779777492 | HGSNAT | c.1764G= (p.Val588=) n.1080G= c.915G= (p.Val305=) c.1875G= (p.Val625=) c.1851G= (p.Val617=) c.1683G= (p.Val561=) c.1572G= (p.Val524=) c.900G= (p.Val300=) | |
| 8 | g.43199425G>T | CA460580569 | HGSNAT | c.1764G>T (p.Val588=) n.1080G>T c.915G>T (p.Val305=) c.1875G>T (p.Val625=) c.1851G>T (p.Val617=) c.1683G>T (p.Val561=) c.1572G>T (p.Val524=) c.900G>T (p.Val300=) | |
| 8 | g.43199426T>A | CA371121183 | HGSNAT | c.1765T>A (p.Phe589Ile) n.1081T>A c.916T>A (p.Phe306Ile) c.1876T>A (p.Phe626Ile) c.1852T>A (p.Phe618Ile) c.1684T>A (p.Phe562Ile) c.1573T>A (p.Phe525Ile) c.901T>A (p.Phe301Ile) | |
| 8 | g.43199426T>C | CA371121185 | HGSNAT | c.1765T>C (p.Phe589Leu) n.1081T>C c.916T>C (p.Phe306Leu) c.1876T>C (p.Phe626Leu) c.1852T>C (p.Phe618Leu) c.1684T>C (p.Phe562Leu) c.1573T>C (p.Phe525Leu) c.901T>C (p.Phe301Leu) | |
| 8 | g.43199426T>G | CA371121187 | HGSNAT | c.1765T>G (p.Phe589Val) n.1081T>G c.916T>G (p.Phe306Val) c.1876T>G (p.Phe626Val) c.1852T>G (p.Phe618Val) c.1684T>G (p.Phe562Val) c.1573T>G (p.Phe525Val) c.901T>G (p.Phe301Val) | |
| 8 | g.43199428dup | CA2687155837 | HGSNAT | c.1767dup (p.Glu590Ter) n.1083dup c.918dup (p.Glu307Ter) c.1878dup (p.Glu627Ter) c.1854dup (p.Glu619Ter) c.1686dup (p.Glu563Ter) c.1575dup (p.Glu526Ter) c.903dup (p.Glu302Ter) | gnomAD v4 |
| 8 | g.43199427T>A | CA371121189 | HGSNAT | c.1766T>A (p.Phe589Tyr) n.1082T>A c.917T>A (p.Phe306Tyr) c.1877T>A (p.Phe626Tyr) c.1853T>A (p.Phe618Tyr) c.1685T>A (p.Phe562Tyr) c.1574T>A (p.Phe525Tyr) c.902T>A (p.Phe301Tyr) | |
| 8 | g.43199427T>C | CA371121191 | HGSNAT | c.1766T>C (p.Phe589Ser) n.1082T>C c.917T>C (p.Phe306Ser) c.1877T>C (p.Phe626Ser) c.1853T>C (p.Phe618Ser) c.1685T>C (p.Phe562Ser) c.1574T>C (p.Phe525Ser) c.902T>C (p.Phe301Ser) | gnomAD v4 |
| 8 | g.43199427T>G | CA371121193 | HGSNAT | c.1766T>G (p.Phe589Cys) n.1082T>G c.917T>G (p.Phe306Cys) c.1877T>G (p.Phe626Cys) c.1853T>G (p.Phe618Cys) c.1685T>G (p.Phe562Cys) c.1574T>G (p.Phe525Cys) c.902T>G (p.Phe301Cys) | |
| 8 | g.43199428T>A | CA371121195 | HGSNAT | c.1767T>A (p.Phe589Leu) n.1083T>A c.918T>A (p.Phe306Leu) c.1878T>A (p.Phe626Leu) c.1854T>A (p.Phe618Leu) c.1686T>A (p.Phe562Leu) c.1575T>A (p.Phe525Leu) c.903T>A (p.Phe301Leu) | |
| 8 | g.43199428T>C | CA460580570 | HGSNAT | c.1767T>C (p.Phe589=) n.1083T>C c.918T>C (p.Phe306=) c.1878T>C (p.Phe626=) c.1854T>C (p.Phe618=) c.1686T>C (p.Phe562=) c.1575T>C (p.Phe525=) c.903T>C (p.Phe301=) | |
| 8 | g.43199428T>G | CA371121198 | HGSNAT | c.1767T>G (p.Phe589Leu) n.1083T>G c.918T>G (p.Phe306Leu) c.1878T>G (p.Phe626Leu) c.1854T>G (p.Phe618Leu) c.1686T>G (p.Phe562Leu) c.1575T>G (p.Phe525Leu) c.903T>G (p.Phe301Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43199429G>A | CA371121200 | HGSNAT | c.1768G>A (p.Glu590Lys) n.1084G>A c.919G>A (p.Glu307Lys) c.1879G>A (p.Glu627Lys) c.1855G>A (p.Glu619Lys) c.1687G>A (p.Glu563Lys) c.1576G>A (p.Glu526Lys) c.904G>A (p.Glu302Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43199429G>C | CA371121201 | HGSNAT | c.1768G>C (p.Glu590Gln) n.1084G>C c.919G>C (p.Glu307Gln) c.1879G>C (p.Glu627Gln) c.1855G>C (p.Glu619Gln) c.1687G>C (p.Glu563Gln) c.1576G>C (p.Glu526Gln) c.904G>C (p.Glu302Gln) | |
| 8 | g.43199429G= | CA1779777493 | HGSNAT | c.1768G= (p.Glu590=) n.1084G= c.919G= (p.Glu307=) c.1879G= (p.Glu627=) c.1855G= (p.Glu619=) c.1687G= (p.Glu563=) c.1576G= (p.Glu526=) c.904G= (p.Glu302=) | |
| 8 | g.43199429G>T | CA371121204 | HGSNAT | c.1768G>T (p.Glu590Ter) n.1084G>T c.919G>T (p.Glu307Ter) c.1879G>T (p.Glu627Ter) c.1855G>T (p.Glu619Ter) c.1687G>T (p.Glu563Ter) c.1576G>T (p.Glu526Ter) c.904G>T (p.Glu302Ter) | |
| 8 | g.43199430A= | CA1779777494 | HGSNAT | c.1769A= (p.Glu590=) n.1085A= c.920A= (p.Glu307=) c.1880A= (p.Glu627=) c.1856A= (p.Glu619=) c.1688A= (p.Glu563=) c.1577A= (p.Glu526=) c.905A= (p.Glu302=) | |
| 8 | g.43199430A>C | CA371121207 | HGSNAT | c.1769A>C (p.Glu590Ala) n.1085A>C c.920A>C (p.Glu307Ala) c.1880A>C (p.Glu627Ala) c.1856A>C (p.Glu619Ala) c.1688A>C (p.Glu563Ala) c.1577A>C (p.Glu526Ala) c.905A>C (p.Glu302Ala) | |
| 8 | g.43199430A>G | CA371121209 | HGSNAT | c.1769A>G (p.Glu590Gly) n.1085A>G c.920A>G (p.Glu307Gly) c.1880A>G (p.Glu627Gly) c.1856A>G (p.Glu619Gly) c.1688A>G (p.Glu563Gly) c.1577A>G (p.Glu526Gly) c.905A>G (p.Glu302Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43199430A>T | CA371121211 | HGSNAT | c.1769A>T (p.Glu590Val) n.1085A>T c.920A>T (p.Glu307Val) c.1880A>T (p.Glu627Val) c.1856A>T (p.Glu619Val) c.1688A>T (p.Glu563Val) c.1577A>T (p.Glu526Val) c.905A>T (p.Glu302Val) | |
| 8 | g.43199431G>A | CA460580571 | HGSNAT | c.1770G>A (p.Glu590=) n.1086G>A c.921G>A (p.Glu307=) c.1881G>A (p.Glu627=) c.1857G>A (p.Glu619=) c.1689G>A (p.Glu563=) c.1578G>A (p.Glu526=) c.906G>A (p.Glu302=) | |
| 8 | g.43199431G>C | CA371121214 | HGSNAT | c.1770G>C (p.Glu590Asp) n.1086G>C c.921G>C (p.Glu307Asp) c.1881G>C (p.Glu627Asp) c.1857G>C (p.Glu619Asp) c.1689G>C (p.Glu563Asp) c.1578G>C (p.Glu526Asp) c.906G>C (p.Glu302Asp) | gnomAD v4 |
| 8 | g.43199431G>T | CA371121217 | HGSNAT | c.1770G>T (p.Glu590Asp) n.1086G>T c.921G>T (p.Glu307Asp) c.1881G>T (p.Glu627Asp) c.1857G>T (p.Glu619Asp) c.1689G>T (p.Glu563Asp) c.1578G>T (p.Glu526Asp) c.906G>T (p.Glu302Asp) | |
| 8 | g.43199432A>C | CA371121220 | HGSNAT | c.1771A>C (p.Asn591His) n.1087A>C c.922A>C (p.Asn308His) c.1882A>C (p.Asn628His) c.1858A>C (p.Asn620His) c.1690A>C (p.Asn564His) c.1579A>C (p.Asn527His) c.907A>C (p.Asn303His) | |
| 8 | g.43199432A>G | CA371121223 | HGSNAT | c.1771A>G (p.Asn591Asp) n.1087A>G c.922A>G (p.Asn308Asp) c.1882A>G (p.Asn628Asp) c.1858A>G (p.Asn620Asp) c.1690A>G (p.Asn564Asp) c.1579A>G (p.Asn527Asp) c.907A>G (p.Asn303Asp) | |
| 8 | g.43199432A>T | CA371121224 | HGSNAT | c.1771A>T (p.Asn591Tyr) n.1087A>T c.922A>T (p.Asn308Tyr) c.1882A>T (p.Asn628Tyr) c.1858A>T (p.Asn620Tyr) c.1690A>T (p.Asn564Tyr) c.1579A>T (p.Asn527Tyr) c.907A>T (p.Asn303Tyr) | |
| 8 | g.43199433A= | CA1779777495 | HGSNAT | c.1772A= (p.Asn591=) n.1088A= c.923A= (p.Asn308=) c.1883A= (p.Asn628=) c.1859A= (p.Asn620=) c.1691A= (p.Asn564=) c.1580A= (p.Asn527=) c.908A= (p.Asn303=) | |
| 8 | g.43199433A>C | CA371121229 | HGSNAT | c.1772A>C (p.Asn591Thr) n.1088A>C c.923A>C (p.Asn308Thr) c.1883A>C (p.Asn628Thr) c.1859A>C (p.Asn620Thr) c.1691A>C (p.Asn564Thr) c.1580A>C (p.Asn527Thr) c.908A>C (p.Asn303Thr) | ClinVar dbSNP |
| 8 | g.43199433A>G | CA371121231 | HGSNAT | c.1772A>G (p.Asn591Ser) n.1088A>G c.923A>G (p.Asn308Ser) c.1883A>G (p.Asn628Ser) c.1859A>G (p.Asn620Ser) c.1691A>G (p.Asn564Ser) c.1580A>G (p.Asn527Ser) c.908A>G (p.Asn303Ser) | |
| 8 | g.43199433A>T | CA371121227 | HGSNAT | c.1772A>T (p.Asn591Ile) n.1088A>T c.923A>T (p.Asn308Ile) c.1883A>T (p.Asn628Ile) c.1859A>T (p.Asn620Ile) c.1691A>T (p.Asn564Ile) c.1580A>T (p.Asn527Ile) c.908A>T (p.Asn303Ile) | |
| 8 | g.43199434C>A | CA371121234 | HGSNAT | c.1773C>A (p.Asn591Lys) n.1089C>A c.924C>A (p.Asn308Lys) c.1884C>A (p.Asn628Lys) c.1860C>A (p.Asn620Lys) c.1692C>A (p.Asn564Lys) c.1581C>A (p.Asn527Lys) c.909C>A (p.Asn303Lys) | gnomAD v4 |
| 8 | g.43199434C>G | CA371121236 | HGSNAT | c.1773C>G (p.Asn591Lys) n.1089C>G c.924C>G (p.Asn308Lys) c.1884C>G (p.Asn628Lys) c.1860C>G (p.Asn620Lys) c.1692C>G (p.Asn564Lys) c.1581C>G (p.Asn527Lys) c.909C>G (p.Asn303Lys) | |
| 8 | g.43199434C>T | CA460580572 | HGSNAT | c.1773C>T (p.Asn591=) n.1089C>T c.924C>T (p.Asn308=) c.1884C>T (p.Asn628=) c.1860C>T (p.Asn620=) c.1692C>T (p.Asn564=) c.1581C>T (p.Asn527=) c.909C>T (p.Asn303=) | |
| 8 | g.43199435T>A | CA371121238 | HGSNAT | c.1774T>A (p.Tyr592Asn) n.1090T>A c.925T>A (p.Tyr309Asn) c.1885T>A (p.Tyr629Asn) c.1861T>A (p.Tyr621Asn) c.1693T>A (p.Tyr565Asn) c.1582T>A (p.Tyr528Asn) c.910T>A (p.Tyr304Asn) | |
| 8 | g.43199435T>C | CA371121241 | HGSNAT | c.1774T>C (p.Tyr592His) n.1090T>C c.925T>C (p.Tyr309His) c.1885T>C (p.Tyr629His) c.1861T>C (p.Tyr621His) c.1693T>C (p.Tyr565His) c.1582T>C (p.Tyr528His) c.910T>C (p.Tyr304His) | |
| 8 | g.43199435T>G | CA371121243 | HGSNAT | c.1774T>G (p.Tyr592Asp) n.1090T>G c.925T>G (p.Tyr309Asp) c.1885T>G (p.Tyr629Asp) c.1861T>G (p.Tyr621Asp) c.1693T>G (p.Tyr565Asp) c.1582T>G (p.Tyr528Asp) c.910T>G (p.Tyr304Asp) | |
| 8 | g.43199436A= | CA1779777496 | HGSNAT | c.1775A= (p.Tyr592=) n.1091A= c.926A= (p.Tyr309=) c.1886A= (p.Tyr629=) c.1862A= (p.Tyr621=) c.1694A= (p.Tyr565=) c.1583A= (p.Tyr528=) c.911A= (p.Tyr304=) | |
| 8 | g.43199436A>C | CA371121245 | HGSNAT | c.1775A>C (p.Tyr592Ser) n.1091A>C c.926A>C (p.Tyr309Ser) c.1886A>C (p.Tyr629Ser) c.1862A>C (p.Tyr621Ser) c.1694A>C (p.Tyr565Ser) c.1583A>C (p.Tyr528Ser) c.911A>C (p.Tyr304Ser) | dbSNP gnomAD v4 |
| 8 | g.43199436A>G | CA176076938 | HGSNAT | c.1775A>G (p.Tyr592Cys) n.1091A>G c.926A>G (p.Tyr309Cys) c.1886A>G (p.Tyr629Cys) c.1862A>G (p.Tyr621Cys) c.1694A>G (p.Tyr565Cys) c.1583A>G (p.Tyr528Cys) c.911A>G (p.Tyr304Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199436A>T | CA371121249 | HGSNAT | c.1775A>T (p.Tyr592Phe) n.1091A>T c.926A>T (p.Tyr309Phe) c.1886A>T (p.Tyr629Phe) c.1862A>T (p.Tyr621Phe) c.1694A>T (p.Tyr565Phe) c.1583A>T (p.Tyr528Phe) c.911A>T (p.Tyr304Phe) | |
| 8 | g.43199437C>A | CA371121252 | HGSNAT | c.1776C>A (p.Tyr592Ter) n.1092C>A c.927C>A (p.Tyr309Ter) c.1887C>A (p.Tyr629Ter) c.1863C>A (p.Tyr621Ter) c.1695C>A (p.Tyr565Ter) c.1584C>A (p.Tyr528Ter) c.912C>A (p.Tyr304Ter) | gnomAD v4 |
| 8 | g.43199437C= | CA1779777497 | HGSNAT | c.1776C= (p.Tyr592=) n.1092C= c.927C= (p.Tyr309=) c.1887C= (p.Tyr629=) c.1863C= (p.Tyr621=) c.1695C= (p.Tyr565=) c.1584C= (p.Tyr528=) c.912C= (p.Tyr304=) | |
| 8 | g.43199437C>G | CA371121254 | HGSNAT | c.1776C>G (p.Tyr592Ter) n.1092C>G c.927C>G (p.Tyr309Ter) c.1887C>G (p.Tyr629Ter) c.1863C>G (p.Tyr621Ter) c.1695C>G (p.Tyr565Ter) c.1584C>G (p.Tyr528Ter) c.912C>G (p.Tyr304Ter) | |
| 8 | g.43199437C>T | CA460580573 | HGSNAT | c.1776C>T (p.Tyr592=) n.1092C>T c.927C>T (p.Tyr309=) c.1887C>T (p.Tyr629=) c.1863C>T (p.Tyr621=) c.1695C>T (p.Tyr565=) c.1584C>T (p.Tyr528=) c.912C>T (p.Tyr304=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43199438T>A | CA371121256 | HGSNAT | c.1777T>A (p.Phe593Ile) n.1093T>A c.928T>A (p.Phe310Ile) c.1888T>A (p.Phe630Ile) c.1864T>A (p.Phe622Ile) c.1696T>A (p.Phe566Ile) c.1585T>A (p.Phe529Ile) c.913T>A (p.Phe305Ile) | |
| 8 | g.43199438T>C | CA371121259 | HGSNAT | c.1777T>C (p.Phe593Leu) n.1093T>C c.928T>C (p.Phe310Leu) c.1888T>C (p.Phe630Leu) c.1864T>C (p.Phe622Leu) c.1696T>C (p.Phe566Leu) c.1585T>C (p.Phe529Leu) c.913T>C (p.Phe305Leu) | gnomAD v4 |
| 8 | g.43199438T>G | CA371121263 | HGSNAT | c.1777T>G (p.Phe593Val) n.1093T>G c.928T>G (p.Phe310Val) c.1888T>G (p.Phe630Val) c.1864T>G (p.Phe622Val) c.1696T>G (p.Phe566Val) c.1585T>G (p.Phe529Val) c.913T>G (p.Phe305Val) | |
| 8 | g.43199439T>A | CA371121267 | HGSNAT | c.1778T>A (p.Phe593Tyr) n.1094T>A c.929T>A (p.Phe310Tyr) c.1889T>A (p.Phe630Tyr) c.1865T>A (p.Phe622Tyr) c.1697T>A (p.Phe566Tyr) c.1586T>A (p.Phe529Tyr) c.914T>A (p.Phe305Tyr) | |
| 8 | g.43199439T>C | CA371121266 | HGSNAT | c.1778T>C (p.Phe593Ser) n.1094T>C c.929T>C (p.Phe310Ser) c.1889T>C (p.Phe630Ser) c.1865T>C (p.Phe622Ser) c.1697T>C (p.Phe566Ser) c.1586T>C (p.Phe529Ser) c.914T>C (p.Phe305Ser) | |
| 8 | g.43199439T>G | CA371121265 | HGSNAT | c.1778T>G (p.Phe593Cys) n.1094T>G c.929T>G (p.Phe310Cys) c.1889T>G (p.Phe630Cys) c.1865T>G (p.Phe622Cys) c.1697T>G (p.Phe566Cys) c.1586T>G (p.Phe529Cys) c.914T>G (p.Phe305Cys) | |
| 8 | g.43199440C>A | CA371121269 | HGSNAT | c.1779C>A (p.Phe593Leu) n.1095C>A c.930C>A (p.Phe310Leu) c.1890C>A (p.Phe630Leu) c.1866C>A (p.Phe622Leu) c.1698C>A (p.Phe566Leu) c.1587C>A (p.Phe529Leu) c.915C>A (p.Phe305Leu) | gnomAD v4 |
| 8 | g.43199440C= | CA1779777498 | HGSNAT | c.1779C= (p.Phe593=) n.1095C= c.930C= (p.Phe310=) c.1890C= (p.Phe630=) c.1866C= (p.Phe622=) c.1698C= (p.Phe566=) c.1587C= (p.Phe529=) c.915C= (p.Phe305=) | |
| 8 | g.43199440C>G | CA371121271 | HGSNAT | c.1779C>G (p.Phe593Leu) n.1095C>G c.930C>G (p.Phe310Leu) c.1890C>G (p.Phe630Leu) c.1866C>G (p.Phe622Leu) c.1698C>G (p.Phe566Leu) c.1587C>G (p.Phe529Leu) c.915C>G (p.Phe305Leu) | |
| 8 | g.43199440C>T | CA176076949 | HGSNAT | c.1779C>T (p.Phe593=) n.1095C>T c.930C>T (p.Phe310=) c.1890C>T (p.Phe630=) c.1866C>T (p.Phe622=) c.1698C>T (p.Phe566=) c.1587C>T (p.Phe529=) c.915C>T (p.Phe305=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199443dup | CA2687155846 | HGSNAT | c.1782dup (p.Phe595LeufsTer?) n.1098dup c.933dup (p.Phe312LeufsTer?) c.1893dup (p.Phe632LeufsTer?) c.1869dup (p.Phe624LeufsTer?) c.1701dup (p.Phe568LeufsTer?) c.1590dup (p.Phe531LeufsTer?) c.918dup (p.Phe307LeufsTer?) | gnomAD v4 |
| 8 | g.43199441C>A | CA371121273 | HGSNAT | c.1780C>A (p.Pro594Thr) n.1096C>A c.931C>A (p.Pro311Thr) c.1891C>A (p.Pro631Thr) c.1867C>A (p.Pro623Thr) c.1699C>A (p.Pro567Thr) c.1588C>A (p.Pro530Thr) c.916C>A (p.Pro306Thr) | |
| 8 | g.43199441C>G | CA371121276 | HGSNAT | c.1780C>G (p.Pro594Ala) n.1096C>G c.931C>G (p.Pro311Ala) c.1891C>G (p.Pro631Ala) c.1867C>G (p.Pro623Ala) c.1699C>G (p.Pro567Ala) c.1588C>G (p.Pro530Ala) c.916C>G (p.Pro306Ala) | |
| 8 | g.43199441C>T | CA371121278 | HGSNAT | c.1780C>T (p.Pro594Ser) n.1096C>T c.931C>T (p.Pro311Ser) c.1891C>T (p.Pro631Ser) c.1867C>T (p.Pro623Ser) c.1699C>T (p.Pro567Ser) c.1588C>T (p.Pro530Ser) c.916C>T (p.Pro306Ser) | |
| 8 | g.43199441_43199475delinsCCCTTTCAGTGGAAGCTGAAGGACAACCAGTCCCA | CA1779777499 | HGSNAT | c.1780_1814delinsCCCTTTCAGTGGAAGCTGAAGGACAACCAGTCCCA (p.Pro594=) n.1096_1130delinsCCCTTTCAGTGGAAGCTGAAGGACAACCAGTCCCA c.931_965delinsCCCTTTCAGTGGAAGCTGAAGGACAACCAGTCCCA (p.Pro311=) c.1891_1925delinsCCCTTTCAGTGGAAGCTGAAGGACAACCAGTCCCA (p.Pro631=) c.1867_1901delinsCCCTTTCAGTGGAAGCTGAAGGACAACCAGTCCCA (p.Pro623=) c.1699_1733delinsCCCTTTCAGTGGAAGCTGAAGGACAACCAGTCCCA (p.Pro567=) c.1588_1622delinsCCCTTTCAGTGGAAGCTGAAGGACAACCAGTCCCA (p.Pro530=) c.916_950delinsCCCTTTCAGTGGAAGCTGAAGGACAACCAGTCCCA (p.Pro306=) | |
| 8 | g.43199442_43199476del | CA913141711 | HGSNAT | c.1781_1815del (p.Pro594GlnfsTer23) n.1097_1131del c.932_966del (p.Pro311GlnfsTer23) c.1892_1926del (p.Pro631GlnfsTer23) c.1868_1902del (p.Pro623GlnfsTer23) c.1700_1734del (p.Pro567GlnfsTer23) c.1589_1623del (p.Pro530GlnfsTer23) c.917_951del (p.Pro306GlnfsTer23) | |
| 8 | g.43199442C>A | CA371121280 | HGSNAT | c.1781C>A (p.Pro594His) n.1097C>A c.932C>A (p.Pro311His) c.1892C>A (p.Pro631His) c.1868C>A (p.Pro623His) c.1700C>A (p.Pro567His) c.1589C>A (p.Pro530His) c.917C>A (p.Pro306His) | gnomAD v4 |
| 8 | g.43199442C>G | CA371121282 | HGSNAT | c.1781C>G (p.Pro594Arg) n.1097C>G c.932C>G (p.Pro311Arg) c.1892C>G (p.Pro631Arg) c.1868C>G (p.Pro623Arg) c.1700C>G (p.Pro567Arg) c.1589C>G (p.Pro530Arg) c.917C>G (p.Pro306Arg) | |
| 8 | g.43199442C>T | CA371121284 | HGSNAT | c.1781C>T (p.Pro594Leu) n.1097C>T c.932C>T (p.Pro311Leu) c.1892C>T (p.Pro631Leu) c.1868C>T (p.Pro623Leu) c.1700C>T (p.Pro567Leu) c.1589C>T (p.Pro530Leu) c.917C>T (p.Pro306Leu) | COSMIC COSMIC |
| 8 | g.43199443_43199476del | CA460580574 | HGSNAT | c.1782_1815del (p.Phe595ArgfsTer4) n.1098_1131del c.933_966del (p.Phe312ArgfsTer4) c.1893_1926del (p.Phe632ArgfsTer4) c.1869_1902del (p.Phe624ArgfsTer4) c.1701_1734del (p.Phe568ArgfsTer4) c.1590_1623del (p.Phe531ArgfsTer4) c.918_951del (p.Phe307ArgfsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199443C>A | CA460580575 | HGSNAT | c.1782C>A (p.Pro594=) n.1098C>A c.933C>A (p.Pro311=) c.1893C>A (p.Pro631=) c.1869C>A (p.Pro623=) c.1701C>A (p.Pro567=) c.1590C>A (p.Pro530=) c.918C>A (p.Pro306=) | |
| 8 | g.43199443C= | CA1779777500 | HGSNAT | c.1782C= (p.Pro594=) n.1098C= c.933C= (p.Pro311=) c.1893C= (p.Pro631=) c.1869C= (p.Pro623=) c.1701C= (p.Pro567=) c.1590C= (p.Pro530=) c.918C= (p.Pro306=) | |
| 8 | g.43199443C>G | CA460580576 | HGSNAT | c.1782C>G (p.Pro594=) n.1098C>G c.933C>G (p.Pro311=) c.1893C>G (p.Pro631=) c.1869C>G (p.Pro623=) c.1701C>G (p.Pro567=) c.1590C>G (p.Pro530=) c.918C>G (p.Pro306=) | ClinVar |
| 8 | g.43199443C>T | CA460580577 | HGSNAT | c.1782C>T (p.Pro594=) n.1098C>T c.933C>T (p.Pro311=) c.1893C>T (p.Pro631=) c.1869C>T (p.Pro623=) c.1701C>T (p.Pro567=) c.1590C>T (p.Pro530=) c.918C>T (p.Pro306=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43199444T>A | CA371121286 | HGSNAT | c.1783T>A (p.Phe595Ile) n.1099T>A c.934T>A (p.Phe312Ile) c.1894T>A (p.Phe632Ile) c.1870T>A (p.Phe624Ile) c.1702T>A (p.Phe568Ile) c.1591T>A (p.Phe531Ile) c.919T>A (p.Phe307Ile) | |
| 8 | g.43199444T>C | CA371121289 | HGSNAT | c.1783T>C (p.Phe595Leu) n.1099T>C c.934T>C (p.Phe312Leu) c.1894T>C (p.Phe632Leu) c.1870T>C (p.Phe624Leu) c.1702T>C (p.Phe568Leu) c.1591T>C (p.Phe531Leu) c.919T>C (p.Phe307Leu) | |
| 8 | g.43199444T>G | CA371121292 | HGSNAT | c.1783T>G (p.Phe595Val) n.1099T>G c.934T>G (p.Phe312Val) c.1894T>G (p.Phe632Val) c.1870T>G (p.Phe624Val) c.1702T>G (p.Phe568Val) c.1591T>G (p.Phe531Val) c.919T>G (p.Phe307Val) | |
| 8 | g.43199445T>A | CA371121296 | HGSNAT | c.1784T>A (p.Phe595Tyr) n.1100T>A c.935T>A (p.Phe312Tyr) c.1895T>A (p.Phe632Tyr) c.1871T>A (p.Phe624Tyr) c.1703T>A (p.Phe568Tyr) c.1592T>A (p.Phe531Tyr) c.920T>A (p.Phe307Tyr) | |
| 8 | g.43199445T>C | CA371121295 | HGSNAT | c.1784T>C (p.Phe595Ser) n.1100T>C c.935T>C (p.Phe312Ser) c.1895T>C (p.Phe632Ser) c.1871T>C (p.Phe624Ser) c.1703T>C (p.Phe568Ser) c.1592T>C (p.Phe531Ser) c.920T>C (p.Phe307Ser) | |
| 8 | g.43199445T>G | CA371121293 | HGSNAT | c.1784T>G (p.Phe595Cys) n.1100T>G c.935T>G (p.Phe312Cys) c.1895T>G (p.Phe632Cys) c.1871T>G (p.Phe624Cys) c.1703T>G (p.Phe568Cys) c.1592T>G (p.Phe531Cys) c.920T>G (p.Phe307Cys) | COSMIC COSMIC |
| 8 | g.43199446T>A | CA371121297 | HGSNAT | c.1785T>A (p.Phe595Leu) n.1101T>A c.936T>A (p.Phe312Leu) c.1896T>A (p.Phe632Leu) c.1872T>A (p.Phe624Leu) c.1704T>A (p.Phe568Leu) c.1593T>A (p.Phe531Leu) c.921T>A (p.Phe307Leu) | |
| 8 | g.43199446T>C | CA460580578 | HGSNAT | c.1785T>C (p.Phe595=) n.1101T>C c.936T>C (p.Phe312=) c.1896T>C (p.Phe632=) c.1872T>C (p.Phe624=) c.1704T>C (p.Phe568=) c.1593T>C (p.Phe531=) c.921T>C (p.Phe307=) | |
| 8 | g.43199446T>G | CA371121300 | HGSNAT | c.1785T>G (p.Phe595Leu) n.1101T>G c.936T>G (p.Phe312Leu) c.1896T>G (p.Phe632Leu) c.1872T>G (p.Phe624Leu) c.1704T>G (p.Phe568Leu) c.1593T>G (p.Phe531Leu) c.921T>G (p.Phe307Leu) | |
| 8 | g.43199447C>A | CA371121303 | HGSNAT | c.1786C>A (p.Gln596Lys) n.1102C>A c.937C>A (p.Gln313Lys) c.1897C>A (p.Gln633Lys) c.1873C>A (p.Gln625Lys) c.1705C>A (p.Gln569Lys) c.1594C>A (p.Gln532Lys) c.922C>A (p.Gln308Lys) | |
| 8 | g.43199447C= | CA1779777501 | HGSNAT | c.1786C= (p.Gln596=) n.1102C= c.937C= (p.Gln313=) c.1897C= (p.Gln633=) c.1873C= (p.Gln625=) c.1705C= (p.Gln569=) c.1594C= (p.Gln532=) c.922C= (p.Gln308=) | |
| 8 | g.43199447C>G | CA371121306 | HGSNAT | c.1786C>G (p.Gln596Glu) n.1102C>G c.937C>G (p.Gln313Glu) c.1897C>G (p.Gln633Glu) c.1873C>G (p.Gln625Glu) c.1705C>G (p.Gln569Glu) c.1594C>G (p.Gln532Glu) c.922C>G (p.Gln308Glu) | |
| 8 | g.43199447C>T | CA4737025 | HGSNAT | c.1786C>T (p.Gln596Ter) n.1102C>T c.937C>T (p.Gln313Ter) c.1897C>T (p.Gln633Ter) c.1873C>T (p.Gln625Ter) c.1705C>T (p.Gln569Ter) c.1594C>T (p.Gln532Ter) c.922C>T (p.Gln308Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43199448A>C | CA371121308 | HGSNAT | c.1787A>C (p.Gln596Pro) n.1103A>C c.938A>C (p.Gln313Pro) c.1898A>C (p.Gln633Pro) c.1874A>C (p.Gln625Pro) c.1706A>C (p.Gln569Pro) c.1595A>C (p.Gln532Pro) c.923A>C (p.Gln308Pro) | |
| 8 | g.43199448A>G | CA371121310 | HGSNAT | c.1787A>G (p.Gln596Arg) n.1103A>G c.938A>G (p.Gln313Arg) c.1898A>G (p.Gln633Arg) c.1874A>G (p.Gln625Arg) c.1706A>G (p.Gln569Arg) c.1595A>G (p.Gln532Arg) c.923A>G (p.Gln308Arg) | |
| 8 | g.43199448A>T | CA371121313 | HGSNAT | c.1787A>T (p.Gln596Leu) n.1103A>T c.938A>T (p.Gln313Leu) c.1898A>T (p.Gln633Leu) c.1874A>T (p.Gln625Leu) c.1706A>T (p.Gln569Leu) c.1595A>T (p.Gln532Leu) c.923A>T (p.Gln308Leu) | |
| 8 | g.43199449G>A | CA460580579 | HGSNAT | c.1788G>A (p.Gln596=) n.1104G>A c.939G>A (p.Gln313=) c.1899G>A (p.Gln633=) c.1875G>A (p.Gln625=) c.1707G>A (p.Gln569=) c.1596G>A (p.Gln532=) c.924G>A (p.Gln308=) | |
| 8 | g.43199449G>C | CA371121316 | HGSNAT | c.1788G>C (p.Gln596His) n.1104G>C c.939G>C (p.Gln313His) c.1899G>C (p.Gln633His) c.1875G>C (p.Gln625His) c.1707G>C (p.Gln569His) c.1596G>C (p.Gln532His) c.924G>C (p.Gln308His) | |
| 8 | g.43199449G>T | CA371121317 | HGSNAT | c.1788G>T (p.Gln596His) n.1104G>T c.939G>T (p.Gln313His) c.1899G>T (p.Gln633His) c.1875G>T (p.Gln625His) c.1707G>T (p.Gln569His) c.1596G>T (p.Gln532His) c.924G>T (p.Gln308His) | |
| 8 | g.43199450T>A | CA371121321 | HGSNAT | c.1789T>A (p.Trp597Arg) n.1105T>A c.940T>A (p.Trp314Arg) c.1900T>A (p.Trp634Arg) c.1876T>A (p.Trp626Arg) c.1708T>A (p.Trp570Arg) c.1597T>A (p.Trp533Arg) c.925T>A (p.Trp309Arg) | |
| 8 | g.43199450T>C | CA371121322 | HGSNAT | c.1789T>C (p.Trp597Arg) n.1105T>C c.940T>C (p.Trp314Arg) c.1900T>C (p.Trp634Arg) c.1876T>C (p.Trp626Arg) c.1708T>C (p.Trp570Arg) c.1597T>C (p.Trp533Arg) c.925T>C (p.Trp309Arg) | |
| 8 | g.43199450T>G | CA371121323 | HGSNAT | c.1789T>G (p.Trp597Gly) n.1105T>G c.940T>G (p.Trp314Gly) c.1900T>G (p.Trp634Gly) c.1876T>G (p.Trp626Gly) c.1708T>G (p.Trp570Gly) c.1597T>G (p.Trp533Gly) c.925T>G (p.Trp309Gly) | ClinVar gnomAD v4 |
| 8 | g.43199451G>A | CA371121325 | HGSNAT | c.1790G>A (p.Trp597Ter) n.1106G>A c.941G>A (p.Trp314Ter) c.1901G>A (p.Trp634Ter) c.1877G>A (p.Trp626Ter) c.1709G>A (p.Trp570Ter) c.1598G>A (p.Trp533Ter) c.926G>A (p.Trp309Ter) | |
| 8 | g.43199451G>C | CA371121328 | HGSNAT | c.1790G>C (p.Trp597Ser) n.1106G>C c.941G>C (p.Trp314Ser) c.1901G>C (p.Trp634Ser) c.1877G>C (p.Trp626Ser) c.1709G>C (p.Trp570Ser) c.1598G>C (p.Trp533Ser) c.926G>C (p.Trp309Ser) | |
| 8 | g.43199451G>T | CA371121329 | HGSNAT | c.1790G>T (p.Trp597Leu) n.1106G>T c.941G>T (p.Trp314Leu) c.1901G>T (p.Trp634Leu) c.1877G>T (p.Trp626Leu) c.1709G>T (p.Trp570Leu) c.1598G>T (p.Trp533Leu) c.926G>T (p.Trp309Leu) | |
| 8 | g.43199452G>A | CA371121336 | HGSNAT | c.1791G>A (p.Trp597Ter) n.1107G>A c.942G>A (p.Trp314Ter) c.1902G>A (p.Trp634Ter) c.1878G>A (p.Trp626Ter) c.1710G>A (p.Trp570Ter) c.1599G>A (p.Trp533Ter) c.927G>A (p.Trp309Ter) | |
| 8 | g.43199452G>C | CA371121332 | HGSNAT | c.1791G>C (p.Trp597Cys) n.1107G>C c.942G>C (p.Trp314Cys) c.1902G>C (p.Trp634Cys) c.1878G>C (p.Trp626Cys) c.1710G>C (p.Trp570Cys) c.1599G>C (p.Trp533Cys) c.927G>C (p.Trp309Cys) | COSMIC COSMIC |
| 8 | g.43199452G>T | CA371121333 | HGSNAT | c.1791G>T (p.Trp597Cys) n.1107G>T c.942G>T (p.Trp314Cys) c.1902G>T (p.Trp634Cys) c.1878G>T (p.Trp626Cys) c.1710G>T (p.Trp570Cys) c.1599G>T (p.Trp533Cys) c.927G>T (p.Trp309Cys) | |
| 8 | g.43199453A>C | CA371121337 | HGSNAT | c.1792A>C (p.Lys598Gln) n.1108A>C c.943A>C (p.Lys315Gln) c.1903A>C (p.Lys635Gln) c.1879A>C (p.Lys627Gln) c.1711A>C (p.Lys571Gln) c.1600A>C (p.Lys534Gln) c.928A>C (p.Lys310Gln) | |
| 8 | g.43199453A>G | CA371121338 | HGSNAT | c.1792A>G (p.Lys598Glu) n.1108A>G c.943A>G (p.Lys315Glu) c.1903A>G (p.Lys635Glu) c.1879A>G (p.Lys627Glu) c.1711A>G (p.Lys571Glu) c.1600A>G (p.Lys534Glu) c.928A>G (p.Lys310Glu) | |
| 8 | g.43199453A>T | CA371121340 | HGSNAT | c.1792A>T (p.Lys598Ter) n.1108A>T c.943A>T (p.Lys315Ter) c.1903A>T (p.Lys635Ter) c.1879A>T (p.Lys627Ter) c.1711A>T (p.Lys571Ter) c.1600A>T (p.Lys534Ter) c.928A>T (p.Lys310Ter) | |
| 8 | g.43199454A= | CA1779777502 | HGSNAT | c.1793A= (p.Lys598=) n.1109A= c.944A= (p.Lys315=) c.1904A= (p.Lys635=) c.1880A= (p.Lys627=) c.1712A= (p.Lys571=) c.1601A= (p.Lys534=) c.929A= (p.Lys310=) | |
| 8 | g.43199454A>C | CA371121342 | HGSNAT | c.1793A>C (p.Lys598Thr) n.1109A>C c.944A>C (p.Lys315Thr) c.1904A>C (p.Lys635Thr) c.1880A>C (p.Lys627Thr) c.1712A>C (p.Lys571Thr) c.1601A>C (p.Lys534Thr) c.929A>C (p.Lys310Thr) | |
| 8 | g.43199454A>G | CA4737026 | HGSNAT | c.1793A>G (p.Lys598Arg) n.1109A>G c.944A>G (p.Lys315Arg) c.1904A>G (p.Lys635Arg) c.1880A>G (p.Lys627Arg) c.1712A>G (p.Lys571Arg) c.1601A>G (p.Lys534Arg) c.929A>G (p.Lys310Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199454A>T | CA371121346 | HGSNAT | c.1793A>T (p.Lys598Met) n.1109A>T c.944A>T (p.Lys315Met) c.1904A>T (p.Lys635Met) c.1880A>T (p.Lys627Met) c.1712A>T (p.Lys571Met) c.1601A>T (p.Lys534Met) c.929A>T (p.Lys310Met) | |
| 8 | g.43199455G>A | CA460580580 | HGSNAT | c.1794G>A (p.Lys598=) n.1110G>A c.945G>A (p.Lys315=) c.1905G>A (p.Lys635=) c.1881G>A (p.Lys627=) c.1713G>A (p.Lys571=) c.1602G>A (p.Lys534=) c.930G>A (p.Lys310=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43199455G>C | CA371121349 | HGSNAT | c.1794G>C (p.Lys598Asn) n.1110G>C c.945G>C (p.Lys315Asn) c.1905G>C (p.Lys635Asn) c.1881G>C (p.Lys627Asn) c.1713G>C (p.Lys571Asn) c.1602G>C (p.Lys534Asn) c.930G>C (p.Lys310Asn) | |
| 8 | g.43199455G= | CA1779777503 | HGSNAT | c.1794G= (p.Lys598=) n.1110G= c.945G= (p.Lys315=) c.1905G= (p.Lys635=) c.1881G= (p.Lys627=) c.1713G= (p.Lys571=) c.1602G= (p.Lys534=) c.930G= (p.Lys310=) | |
| 8 | g.43199455G>T | CA371121351 | HGSNAT | c.1794G>T (p.Lys598Asn) n.1110G>T c.945G>T (p.Lys315Asn) c.1905G>T (p.Lys635Asn) c.1881G>T (p.Lys627Asn) c.1713G>T (p.Lys571Asn) c.1602G>T (p.Lys534Asn) c.930G>T (p.Lys310Asn) | |
| 8 | g.43199456C>A | CA371121353 | HGSNAT | c.1795C>A (p.Leu599Met) n.1111C>A c.946C>A (p.Leu316Met) c.1906C>A (p.Leu636Met) c.1882C>A (p.Leu628Met) c.1714C>A (p.Leu572Met) c.1603C>A (p.Leu535Met) c.931C>A (p.Leu311Met) | gnomAD v4 |
| 8 | g.43199456C= | CA1779777504 | HGSNAT | c.1795C= (p.Leu599=) n.1111C= c.946C= (p.Leu316=) c.1906C= (p.Leu636=) c.1882C= (p.Leu628=) c.1714C= (p.Leu572=) c.1603C= (p.Leu535=) c.931C= (p.Leu311=) | |
| 8 | g.43199456C>G | CA4737027 | HGSNAT | c.1795C>G (p.Leu599Val) n.1111C>G c.946C>G (p.Leu316Val) c.1906C>G (p.Leu636Val) c.1882C>G (p.Leu628Val) c.1714C>G (p.Leu572Val) c.1603C>G (p.Leu535Val) c.931C>G (p.Leu311Val) | dbSNP ExAC gnomAD v2 |
| 8 | g.43199456C>T | CA460580581 | HGSNAT | c.1795C>T (p.Leu599=) n.1111C>T c.946C>T (p.Leu316=) c.1906C>T (p.Leu636=) c.1882C>T (p.Leu628=) c.1714C>T (p.Leu572=) c.1603C>T (p.Leu535=) c.931C>T (p.Leu311=) | ClinVar |
| 8 | g.43199457T>A | CA371121358 | HGSNAT | c.1796T>A (p.Leu599Gln) n.1112T>A c.947T>A (p.Leu316Gln) c.1907T>A (p.Leu636Gln) c.1883T>A (p.Leu628Gln) c.1715T>A (p.Leu572Gln) c.1604T>A (p.Leu535Gln) c.932T>A (p.Leu311Gln) | |
| 8 | g.43199457T>C | CA176076961 | HGSNAT | c.1796T>C (p.Leu599Pro) n.1112T>C c.947T>C (p.Leu316Pro) c.1907T>C (p.Leu636Pro) c.1883T>C (p.Leu628Pro) c.1715T>C (p.Leu572Pro) c.1604T>C (p.Leu535Pro) c.932T>C (p.Leu311Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43199457T>G | CA371121356 | HGSNAT | c.1796T>G (p.Leu599Arg) n.1112T>G c.947T>G (p.Leu316Arg) c.1907T>G (p.Leu636Arg) c.1883T>G (p.Leu628Arg) c.1715T>G (p.Leu572Arg) c.1604T>G (p.Leu535Arg) c.932T>G (p.Leu311Arg) | dbSNP gnomAD v4 |
| 8 | g.43199457T= | CA1779777505 | HGSNAT | c.1796T= (p.Leu599=) n.1112T= c.947T= (p.Leu316=) c.1907T= (p.Leu636=) c.1883T= (p.Leu628=) c.1715T= (p.Leu572=) c.1604T= (p.Leu535=) c.932T= (p.Leu311=) | |
| 8 | g.43199458G>A | CA460580582 | HGSNAT | c.1797G>A (p.Leu599=) n.1113G>A c.948G>A (p.Leu316=) c.1908G>A (p.Leu636=) c.1884G>A (p.Leu628=) c.1716G>A (p.Leu572=) c.1605G>A (p.Leu535=) c.933G>A (p.Leu311=) | |
| 8 | g.43199458G>C | CA460580583 | HGSNAT | c.1797G>C (p.Leu599=) n.1113G>C c.948G>C (p.Leu316=) c.1908G>C (p.Leu636=) c.1884G>C (p.Leu628=) c.1716G>C (p.Leu572=) c.1605G>C (p.Leu535=) c.933G>C (p.Leu311=) | |
| 8 | g.43199458G>T | CA460580584 | HGSNAT | c.1797G>T (p.Leu599=) n.1113G>T c.948G>T (p.Leu316=) c.1908G>T (p.Leu636=) c.1884G>T (p.Leu628=) c.1716G>T (p.Leu572=) c.1605G>T (p.Leu535=) c.933G>T (p.Leu311=) | |
| 8 | g.43199459A>C | CA371121360 | HGSNAT | c.1798A>C (p.Lys600Gln) n.1114A>C c.949A>C (p.Lys317Gln) c.1909A>C (p.Lys637Gln) c.1885A>C (p.Lys629Gln) c.1717A>C (p.Lys573Gln) c.1606A>C (p.Lys536Gln) c.934A>C (p.Lys312Gln) | |
| 8 | g.43199459A>G | CA371121361 | HGSNAT | c.1798A>G (p.Lys600Glu) n.1114A>G c.949A>G (p.Lys317Glu) c.1909A>G (p.Lys637Glu) c.1885A>G (p.Lys629Glu) c.1717A>G (p.Lys573Glu) c.1606A>G (p.Lys536Glu) c.934A>G (p.Lys312Glu) | |
| 8 | g.43199459A>T | CA371121364 | HGSNAT | c.1798A>T (p.Lys600Ter) n.1114A>T c.949A>T (p.Lys317Ter) c.1909A>T (p.Lys637Ter) c.1885A>T (p.Lys629Ter) c.1717A>T (p.Lys573Ter) c.1606A>T (p.Lys536Ter) c.934A>T (p.Lys312Ter) | |
| 8 | g.43199460A>C | CA371121366 | HGSNAT | c.1799A>C (p.Lys600Thr) n.1115A>C c.950A>C (p.Lys317Thr) c.1910A>C (p.Lys637Thr) c.1886A>C (p.Lys629Thr) c.1718A>C (p.Lys573Thr) c.1607A>C (p.Lys536Thr) c.935A>C (p.Lys312Thr) | |
| 8 | g.43199460A>G | CA371121369 | HGSNAT | c.1799A>G (p.Lys600Arg) n.1115A>G c.950A>G (p.Lys317Arg) c.1910A>G (p.Lys637Arg) c.1886A>G (p.Lys629Arg) c.1718A>G (p.Lys573Arg) c.1607A>G (p.Lys536Arg) c.935A>G (p.Lys312Arg) | gnomAD v4 |
| 8 | g.43199460A>T | CA371121371 | HGSNAT | c.1799A>T (p.Lys600Met) n.1115A>T c.950A>T (p.Lys317Met) c.1910A>T (p.Lys637Met) c.1886A>T (p.Lys629Met) c.1718A>T (p.Lys573Met) c.1607A>T (p.Lys536Met) c.935A>T (p.Lys312Met) | |
| 8 | g.43199461G>A | CA460580585 | HGSNAT | c.1800G>A (p.Lys600=) n.1116G>A c.951G>A (p.Lys317=) c.1911G>A (p.Lys637=) c.1887G>A (p.Lys629=) c.1719G>A (p.Lys573=) c.1608G>A (p.Lys536=) c.936G>A (p.Lys312=) | ClinVar |
| 8 | g.43199461G>C | CA371121373 | HGSNAT | c.1800G>C (p.Lys600Asn) n.1116G>C c.951G>C (p.Lys317Asn) c.1911G>C (p.Lys637Asn) c.1887G>C (p.Lys629Asn) c.1719G>C (p.Lys573Asn) c.1608G>C (p.Lys536Asn) c.936G>C (p.Lys312Asn) | |
| 8 | g.43199461G>T | CA371121375 | HGSNAT | c.1800G>T (p.Lys600Asn) n.1116G>T c.951G>T (p.Lys317Asn) c.1911G>T (p.Lys637Asn) c.1887G>T (p.Lys629Asn) c.1719G>T (p.Lys573Asn) c.1608G>T (p.Lys536Asn) c.936G>T (p.Lys312Asn) | |
| 8 | g.43199462G>A | CA371121378 | HGSNAT | c.1801G>A (p.Asp601Asn) n.1117G>A c.952G>A (p.Asp318Asn) c.1912G>A (p.Asp638Asn) c.1888G>A (p.Asp630Asn) c.1720G>A (p.Asp574Asn) c.1609G>A (p.Asp537Asn) c.937G>A (p.Asp313Asn) | |
| 8 | g.43199462G>C | CA371121381 | HGSNAT | c.1801G>C (p.Asp601His) n.1117G>C c.952G>C (p.Asp318His) c.1912G>C (p.Asp638His) c.1888G>C (p.Asp630His) c.1720G>C (p.Asp574His) c.1609G>C (p.Asp537His) c.937G>C (p.Asp313His) | ClinVar |
| 8 | g.43199462G>T | CA371121383 | HGSNAT | c.1801G>T (p.Asp601Tyr) n.1117G>T c.952G>T (p.Asp318Tyr) c.1912G>T (p.Asp638Tyr) c.1888G>T (p.Asp630Tyr) c.1720G>T (p.Asp574Tyr) c.1609G>T (p.Asp537Tyr) c.937G>T (p.Asp313Tyr) | |
| 8 | g.43199463A>C | CA371121390 | HGSNAT | c.1802A>C (p.Asp601Ala) n.1118A>C c.953A>C (p.Asp318Ala) c.1913A>C (p.Asp638Ala) c.1889A>C (p.Asp630Ala) c.1721A>C (p.Asp574Ala) c.1610A>C (p.Asp537Ala) c.938A>C (p.Asp313Ala) | |
| 8 | g.43199463A>G | CA371121391 | HGSNAT | c.1802A>G (p.Asp601Gly) n.1118A>G c.953A>G (p.Asp318Gly) c.1913A>G (p.Asp638Gly) c.1889A>G (p.Asp630Gly) c.1721A>G (p.Asp574Gly) c.1610A>G (p.Asp537Gly) c.938A>G (p.Asp313Gly) | |
| 8 | g.43199463A>T | CA371121387 | HGSNAT | c.1802A>T (p.Asp601Val) n.1118A>T c.953A>T (p.Asp318Val) c.1913A>T (p.Asp638Val) c.1889A>T (p.Asp630Val) c.1721A>T (p.Asp574Val) c.1610A>T (p.Asp537Val) c.938A>T (p.Asp313Val) | |
| 8 | g.43199464C>A | CA371121393 | HGSNAT | c.1803C>A (p.Asp601Glu) n.1119C>A c.954C>A (p.Asp318Glu) c.1914C>A (p.Asp638Glu) c.1890C>A (p.Asp630Glu) c.1722C>A (p.Asp574Glu) c.1611C>A (p.Asp537Glu) c.939C>A (p.Asp313Glu) | |
| 8 | g.43199464C= | CA1779777506 | HGSNAT | c.1803C= (p.Asp601=) n.1119C= c.954C= (p.Asp318=) c.1914C= (p.Asp638=) c.1890C= (p.Asp630=) c.1722C= (p.Asp574=) c.1611C= (p.Asp537=) c.939C= (p.Asp313=) | |
| 8 | g.43199464C>G | CA371121395 | HGSNAT | c.1803C>G (p.Asp601Glu) n.1119C>G c.954C>G (p.Asp318Glu) c.1914C>G (p.Asp638Glu) c.1890C>G (p.Asp630Glu) c.1722C>G (p.Asp574Glu) c.1611C>G (p.Asp537Glu) c.939C>G (p.Asp313Glu) | |
| 8 | g.43199464C>T | CA4737028 | HGSNAT | c.1803C>T (p.Asp601=) n.1119C>T c.954C>T (p.Asp318=) c.1914C>T (p.Asp638=) c.1890C>T (p.Asp630=) c.1722C>T (p.Asp574=) c.1611C>T (p.Asp537=) c.939C>T (p.Asp313=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43199464_43199465delinsCA | CA1779777507 | HGSNAT | c.1803_1804delinsCA (p.Asp601=) n.1119_1120delinsCA c.954_955delinsCA (p.Asp318=) c.1914_1915delinsCA (p.Asp638=) c.1890_1891delinsCA (p.Asp630=) c.1722_1723delinsCA (p.Asp574=) c.1611_1612delinsCA (p.Asp537=) c.939_940delinsCA (p.Asp313=) | |
| 8 | g.43199465A>C | CA371121399 | HGSNAT | c.1804A>C (p.Asn602His) n.1120A>C c.955A>C (p.Asn319His) c.1915A>C (p.Asn639His) c.1891A>C (p.Asn631His) c.1723A>C (p.Asn575His) c.1612A>C (p.Asn538His) c.940A>C (p.Asn314His) | |
| 8 | g.43199465A>G | CA371121400 | HGSNAT | c.1804A>G (p.Asn602Asp) n.1120A>G c.955A>G (p.Asn319Asp) c.1915A>G (p.Asn639Asp) c.1891A>G (p.Asn631Asp) c.1723A>G (p.Asn575Asp) c.1612A>G (p.Asn538Asp) c.940A>G (p.Asn314Asp) | |
| 8 | g.43199465A>T | CA371121402 | HGSNAT | c.1804A>T (p.Asn602Tyr) n.1120A>T c.955A>T (p.Asn319Tyr) c.1915A>T (p.Asn639Tyr) c.1891A>T (p.Asn631Tyr) c.1723A>T (p.Asn575Tyr) c.1612A>T (p.Asn538Tyr) c.940A>T (p.Asn314Tyr) | |
| 8 | g.43199466del | CA581639302 | HGSNAT | c.1805del (p.Asn602ThrfsTer8) n.1121del c.956del (p.Asn319ThrfsTer8) c.1916del (p.Asn639ThrfsTer8) c.1892del (p.Asn631ThrfsTer8) c.1724del (p.Asn575ThrfsTer8) c.1613del (p.Asn538ThrfsTer8) c.941del (p.Asn314ThrfsTer8) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43199466A= | CA1779777508 | HGSNAT | c.1805A= (p.Asn602=) n.1121A= c.956A= (p.Asn319=) c.1916A= (p.Asn639=) c.1892A= (p.Asn631=) c.1724A= (p.Asn575=) c.1613A= (p.Asn538=) c.941A= (p.Asn314=) | |
| 8 | g.43199466A>C | CA371121403 | HGSNAT | c.1805A>C (p.Asn602Thr) n.1121A>C c.956A>C (p.Asn319Thr) c.1916A>C (p.Asn639Thr) c.1892A>C (p.Asn631Thr) c.1724A>C (p.Asn575Thr) c.1613A>C (p.Asn538Thr) c.941A>C (p.Asn314Thr) | |
| 8 | g.43199466A>G | CA4737029 | HGSNAT | c.1805A>G (p.Asn602Ser) n.1121A>G c.956A>G (p.Asn319Ser) c.1916A>G (p.Asn639Ser) c.1892A>G (p.Asn631Ser) c.1724A>G (p.Asn575Ser) c.1613A>G (p.Asn538Ser) c.941A>G (p.Asn314Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199466A>T | CA371121405 | HGSNAT | c.1805A>T (p.Asn602Ile) n.1121A>T c.956A>T (p.Asn319Ile) c.1916A>T (p.Asn639Ile) c.1892A>T (p.Asn631Ile) c.1724A>T (p.Asn575Ile) c.1613A>T (p.Asn538Ile) c.941A>T (p.Asn314Ile) | |
| 8 | g.43199467C>A | CA371121407 | HGSNAT | c.1806C>A (p.Asn602Lys) n.1122C>A c.957C>A (p.Asn319Lys) c.1917C>A (p.Asn639Lys) c.1893C>A (p.Asn631Lys) c.1725C>A (p.Asn575Lys) c.1614C>A (p.Asn538Lys) c.942C>A (p.Asn314Lys) | dbSNP |
| 8 | g.43199467C= | CA1779777509 | HGSNAT | c.1806C= (p.Asn602=) n.1122C= c.957C= (p.Asn319=) c.1917C= (p.Asn639=) c.1893C= (p.Asn631=) c.1725C= (p.Asn575=) c.1614C= (p.Asn538=) c.942C= (p.Asn314=) | |
| 8 | g.43199467C>G | CA371121409 | HGSNAT | c.1806C>G (p.Asn602Lys) n.1122C>G c.957C>G (p.Asn319Lys) c.1917C>G (p.Asn639Lys) c.1893C>G (p.Asn631Lys) c.1725C>G (p.Asn575Lys) c.1614C>G (p.Asn538Lys) c.942C>G (p.Asn314Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43199467C>T | CA460580586 | HGSNAT | c.1806C>T (p.Asn602=) n.1122C>T c.957C>T (p.Asn319=) c.1917C>T (p.Asn639=) c.1893C>T (p.Asn631=) c.1725C>T (p.Asn575=) c.1614C>T (p.Asn538=) c.942C>T (p.Asn314=) | ClinVar gnomAD v4 |
| 8 | g.43199468C>A | CA4737030 | HGSNAT | c.1807C>A (p.Gln603Lys) n.1123C>A c.958C>A (p.Gln320Lys) c.1918C>A (p.Gln640Lys) c.1894C>A (p.Gln632Lys) c.1726C>A (p.Gln576Lys) c.1615C>A (p.Gln539Lys) c.943C>A (p.Gln315Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199468C= | CA1779777510 | HGSNAT | c.1807C= (p.Gln603=) n.1123C= c.958C= (p.Gln320=) c.1918C= (p.Gln640=) c.1894C= (p.Gln632=) c.1726C= (p.Gln576=) c.1615C= (p.Gln539=) c.943C= (p.Gln315=) | |
| 8 | g.43199468C>G | CA371121411 | HGSNAT | c.1807C>G (p.Gln603Glu) n.1123C>G c.958C>G (p.Gln320Glu) c.1918C>G (p.Gln640Glu) c.1894C>G (p.Gln632Glu) c.1726C>G (p.Gln576Glu) c.1615C>G (p.Gln539Glu) c.943C>G (p.Gln315Glu) | |
| 8 | g.43199468C>T | CA371121412 | HGSNAT | c.1807C>T (p.Gln603Ter) n.1123C>T c.958C>T (p.Gln320Ter) c.1918C>T (p.Gln640Ter) c.1894C>T (p.Gln632Ter) c.1726C>T (p.Gln576Ter) c.1615C>T (p.Gln539Ter) c.943C>T (p.Gln315Ter) | |
| 8 | g.43199469A>C | CA371121418 | HGSNAT | c.1808A>C (p.Gln603Pro) n.1124A>C c.959A>C (p.Gln320Pro) c.1919A>C (p.Gln640Pro) c.1895A>C (p.Gln632Pro) c.1727A>C (p.Gln576Pro) c.1616A>C (p.Gln539Pro) c.944A>C (p.Gln315Pro) | |
| 8 | g.43199469A>G | CA371121419 | HGSNAT | c.1808A>G (p.Gln603Arg) n.1124A>G c.959A>G (p.Gln320Arg) c.1919A>G (p.Gln640Arg) c.1895A>G (p.Gln632Arg) c.1727A>G (p.Gln576Arg) c.1616A>G (p.Gln539Arg) c.944A>G (p.Gln315Arg) | |
| 8 | g.43199469A>T | CA371121415 | HGSNAT | c.1808A>T (p.Gln603Leu) n.1124A>T c.959A>T (p.Gln320Leu) c.1919A>T (p.Gln640Leu) c.1895A>T (p.Gln632Leu) c.1727A>T (p.Gln576Leu) c.1616A>T (p.Gln539Leu) c.944A>T (p.Gln315Leu) | |
| 8 | g.43199470G>A | CA460580587 | HGSNAT | c.1809G>A (p.Gln603=) n.1125G>A c.960G>A (p.Gln320=) c.1920G>A (p.Gln640=) c.1896G>A (p.Gln632=) c.1728G>A (p.Gln576=) c.1617G>A (p.Gln539=) c.945G>A (p.Gln315=) | |
| 8 | g.43199470G>C | CA371121421 | HGSNAT | c.1809G>C (p.Gln603His) n.1125G>C c.960G>C (p.Gln320His) c.1920G>C (p.Gln640His) c.1896G>C (p.Gln632His) c.1728G>C (p.Gln576His) c.1617G>C (p.Gln539His) c.945G>C (p.Gln315His) | |
| 8 | g.43199470G>T | CA371121423 | HGSNAT | c.1809G>T (p.Gln603His) n.1125G>T c.960G>T (p.Gln320His) c.1920G>T (p.Gln640His) c.1896G>T (p.Gln632His) c.1728G>T (p.Gln576His) c.1617G>T (p.Gln539His) c.945G>T (p.Gln315His) | gnomAD v4 |
| 8 | g.43199471T>A | CA371121426 | HGSNAT | c.1810T>A (p.Ser604Thr) n.1126T>A c.961T>A (p.Ser321Thr) c.1921T>A (p.Ser641Thr) c.1897T>A (p.Ser633Thr) c.1729T>A (p.Ser577Thr) c.1618T>A (p.Ser540Thr) c.946T>A (p.Ser316Thr) | |
| 8 | g.43199471T>C | CA371121428 | HGSNAT | c.1810T>C (p.Ser604Pro) n.1126T>C c.961T>C (p.Ser321Pro) c.1921T>C (p.Ser641Pro) c.1897T>C (p.Ser633Pro) c.1729T>C (p.Ser577Pro) c.1618T>C (p.Ser540Pro) c.946T>C (p.Ser316Pro) | |
| 8 | g.43199471T>G | CA371121429 | HGSNAT | c.1810T>G (p.Ser604Ala) n.1126T>G c.961T>G (p.Ser321Ala) c.1921T>G (p.Ser641Ala) c.1897T>G (p.Ser633Ala) c.1729T>G (p.Ser577Ala) c.1618T>G (p.Ser540Ala) c.946T>G (p.Ser316Ala) | |
| 8 | g.43199472C>A | CA371121432 | HGSNAT | c.1811C>A (p.Ser604Tyr) n.1127C>A c.962C>A (p.Ser321Tyr) c.1922C>A (p.Ser641Tyr) c.1898C>A (p.Ser633Tyr) c.1730C>A (p.Ser577Tyr) c.1619C>A (p.Ser540Tyr) c.947C>A (p.Ser316Tyr) | |
| 8 | g.43199472C>G | CA371121435 | HGSNAT | c.1811C>G (p.Ser604Cys) n.1127C>G c.962C>G (p.Ser321Cys) c.1922C>G (p.Ser641Cys) c.1898C>G (p.Ser633Cys) c.1730C>G (p.Ser577Cys) c.1619C>G (p.Ser540Cys) c.947C>G (p.Ser316Cys) | |
| 8 | g.43199472C>T | CA371121438 | HGSNAT | c.1811C>T (p.Ser604Phe) n.1127C>T c.962C>T (p.Ser321Phe) c.1922C>T (p.Ser641Phe) c.1898C>T (p.Ser633Phe) c.1730C>T (p.Ser577Phe) c.1619C>T (p.Ser540Phe) c.947C>T (p.Ser316Phe) | |
| 8 | g.43199473C>A | CA460580588 | HGSNAT | c.1812C>A (p.Ser604=) n.1128C>A c.963C>A (p.Ser321=) c.1923C>A (p.Ser641=) c.1899C>A (p.Ser633=) c.1731C>A (p.Ser577=) c.1620C>A (p.Ser540=) c.948C>A (p.Ser316=) | |
| 8 | g.43199473C>G | CA460580590 | HGSNAT | c.1812C>G (p.Ser604=) n.1128C>G c.963C>G (p.Ser321=) c.1923C>G (p.Ser641=) c.1899C>G (p.Ser633=) c.1731C>G (p.Ser577=) c.1620C>G (p.Ser540=) c.948C>G (p.Ser316=) | |
| 8 | g.43199473C>T | CA460580589 | HGSNAT | c.1812C>T (p.Ser604=) n.1128C>T c.963C>T (p.Ser321=) c.1923C>T (p.Ser641=) c.1899C>T (p.Ser633=) c.1731C>T (p.Ser577=) c.1620C>T (p.Ser540=) c.948C>T (p.Ser316=) | |
| 8 | g.43199474C>A | CA371121440 | HGSNAT | c.1813C>A (p.His605Asn) n.1129C>A c.964C>A (p.His322Asn) c.1924C>A (p.His642Asn) c.1900C>A (p.His634Asn) c.1732C>A (p.His578Asn) c.1621C>A (p.His541Asn) c.949C>A (p.His317Asn) | |
| 8 | g.43199474C>G | CA371121442 | HGSNAT | c.1813C>G (p.His605Asp) n.1129C>G c.964C>G (p.His322Asp) c.1924C>G (p.His642Asp) c.1900C>G (p.His634Asp) c.1732C>G (p.His578Asp) c.1621C>G (p.His541Asp) c.949C>G (p.His317Asp) | |
| 8 | g.43199474C>T | CA371121445 | HGSNAT | c.1813C>T (p.His605Tyr) n.1129C>T c.964C>T (p.His322Tyr) c.1924C>T (p.His642Tyr) c.1900C>T (p.His634Tyr) c.1732C>T (p.His578Tyr) c.1621C>T (p.His541Tyr) c.949C>T (p.His317Tyr) | |
| 8 | g.43199475A= | CA1779777511 | HGSNAT | c.1814A= (p.His605=) n.1130A= c.965A= (p.His322=) c.1925A= (p.His642=) c.1901A= (p.His634=) c.1733A= (p.His578=) c.1622A= (p.His541=) c.950A= (p.His317=) | |
| 8 | g.43199475A>C | CA371121448 | HGSNAT | c.1814A>C (p.His605Pro) n.1130A>C c.965A>C (p.His322Pro) c.1925A>C (p.His642Pro) c.1901A>C (p.His634Pro) c.1733A>C (p.His578Pro) c.1622A>C (p.His541Pro) c.950A>C (p.His317Pro) | dbSNP gnomAD v4 |
| 8 | g.43199475A>G | CA371121449 | HGSNAT | c.1814A>G (p.His605Arg) n.1130A>G c.965A>G (p.His322Arg) c.1925A>G (p.His642Arg) c.1901A>G (p.His634Arg) c.1733A>G (p.His578Arg) c.1622A>G (p.His541Arg) c.950A>G (p.His317Arg) | |
| 8 | g.43199475A>T | CA371121452 | HGSNAT | c.1814A>T (p.His605Leu) n.1130A>T c.965A>T (p.His322Leu) c.1925A>T (p.His642Leu) c.1901A>T (p.His634Leu) c.1733A>T (p.His578Leu) c.1622A>T (p.His541Leu) c.950A>T (p.His317Leu) | |
| 8 | g.43199476C>A | CA371121456 | HGSNAT | c.1815C>A (p.His605Gln) n.1131C>A c.966C>A (p.His322Gln) c.1926C>A (p.His642Gln) c.1902C>A (p.His634Gln) c.1734C>A (p.His578Gln) c.1623C>A (p.His541Gln) c.951C>A (p.His317Gln) | |
| 8 | g.43199476C= | CA1779777512 | HGSNAT | c.1815C= (p.His605=) n.1131C= c.966C= (p.His322=) c.1926C= (p.His642=) c.1902C= (p.His634=) c.1734C= (p.His578=) c.1623C= (p.His541=) c.951C= (p.His317=) | |
| 8 | g.43199476C>G | CA371121455 | HGSNAT | c.1815C>G (p.His605Gln) n.1131C>G c.966C>G (p.His322Gln) c.1926C>G (p.His642Gln) c.1902C>G (p.His634Gln) c.1734C>G (p.His578Gln) c.1623C>G (p.His541Gln) c.951C>G (p.His317Gln) | |
| 8 | g.43199476C>T | CA460580592 | HGSNAT | c.1815C>T (p.His605=) n.1131C>T c.966C>T (p.His322=) c.1926C>T (p.His642=) c.1902C>T (p.His634=) c.1734C>T (p.His578=) c.1623C>T (p.His541=) c.951C>T (p.His317=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 8 | g.43199477A>C | CA371121459 | HGSNAT | c.1816A>C (p.Lys606Gln) n.1132A>C c.967A>C (p.Lys323Gln) c.1927A>C (p.Lys643Gln) c.1903A>C (p.Lys635Gln) c.1735A>C (p.Lys579Gln) c.1624A>C (p.Lys542Gln) c.952A>C (p.Lys318Gln) | |
| 8 | g.43199477A>G | CA371121461 | HGSNAT | c.1816A>G (p.Lys606Glu) n.1132A>G c.967A>G (p.Lys323Glu) c.1927A>G (p.Lys643Glu) c.1903A>G (p.Lys635Glu) c.1735A>G (p.Lys579Glu) c.1624A>G (p.Lys542Glu) c.952A>G (p.Lys318Glu) | |
| 8 | g.43199477A>T | CA371121463 | HGSNAT | c.1816A>T (p.Lys606Ter) n.1132A>T c.967A>T (p.Lys323Ter) c.1927A>T (p.Lys643Ter) c.1903A>T (p.Lys635Ter) c.1735A>T (p.Lys579Ter) c.1624A>T (p.Lys542Ter) c.952A>T (p.Lys318Ter) | |
| 8 | g.43199478A>C | CA371121466 | HGSNAT | c.1817A>C (p.Lys606Thr) n.1133A>C c.968A>C (p.Lys323Thr) c.1928A>C (p.Lys643Thr) c.1904A>C (p.Lys635Thr) c.1736A>C (p.Lys579Thr) c.1625A>C (p.Lys542Thr) c.953A>C (p.Lys318Thr) | |
| 8 | g.43199478A>G | CA371121467 | HGSNAT | c.1817A>G (p.Lys606Arg) n.1133A>G c.968A>G (p.Lys323Arg) c.1928A>G (p.Lys643Arg) c.1904A>G (p.Lys635Arg) c.1736A>G (p.Lys579Arg) c.1625A>G (p.Lys542Arg) c.953A>G (p.Lys318Arg) | |
| 8 | g.43199478A>T | CA371121469 | HGSNAT | c.1817A>T (p.Lys606Met) n.1133A>T c.968A>T (p.Lys323Met) c.1928A>T (p.Lys643Met) c.1904A>T (p.Lys635Met) c.1736A>T (p.Lys579Met) c.1625A>T (p.Lys542Met) c.953A>T (p.Lys318Met) | |
| 8 | g.43199479G>A | CA460580593 | HGSNAT | c.1818G>A (p.Lys606=) n.1134G>A c.969G>A (p.Lys323=) c.1929G>A (p.Lys643=) c.1905G>A (p.Lys635=) c.1737G>A (p.Lys579=) c.1626G>A (p.Lys542=) c.954G>A (p.Lys318=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43199479G>C | CA371121473 | HGSNAT | c.1818G>C (p.Lys606Asn) n.1134G>C c.969G>C (p.Lys323Asn) c.1929G>C (p.Lys643Asn) c.1905G>C (p.Lys635Asn) c.1737G>C (p.Lys579Asn) c.1626G>C (p.Lys542Asn) c.954G>C (p.Lys318Asn) | |
| 8 | g.43199479G= | CA1779777513 | HGSNAT | c.1818G= (p.Lys606=) n.1134G= c.969G= (p.Lys323=) c.1929G= (p.Lys643=) c.1905G= (p.Lys635=) c.1737G= (p.Lys579=) c.1626G= (p.Lys542=) c.954G= (p.Lys318=) | |
| 8 | g.43199479G>T | CA371121471 | HGSNAT | c.1818G>T (p.Lys606Asn) n.1134G>T c.969G>T (p.Lys323Asn) c.1929G>T (p.Lys643Asn) c.1905G>T (p.Lys635Asn) c.1737G>T (p.Lys579Asn) c.1626G>T (p.Lys542Asn) c.954G>T (p.Lys318Asn) | |
| 8 | g.43199480G>A | CA4737031 | HGSNAT | c.1819G>A (p.Glu607Lys) n.1135G>A c.970G>A (p.Glu324Lys) c.1930G>A (p.Glu644Lys) c.1906G>A (p.Glu636Lys) c.1738G>A (p.Glu580Lys) c.1627G>A (p.Glu543Lys) c.955G>A (p.Glu319Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199480G>C | CA371121476 | HGSNAT | c.1819G>C (p.Glu607Gln) n.1135G>C c.970G>C (p.Glu324Gln) c.1930G>C (p.Glu644Gln) c.1906G>C (p.Glu636Gln) c.1738G>C (p.Glu580Gln) c.1627G>C (p.Glu543Gln) c.955G>C (p.Glu319Gln) | |
| 8 | g.43199480G= | CA1779777514 | HGSNAT | c.1819G= (p.Glu607=) n.1135G= c.970G= (p.Glu324=) c.1930G= (p.Glu644=) c.1906G= (p.Glu636=) c.1738G= (p.Glu580=) c.1627G= (p.Glu543=) c.955G= (p.Glu319=) | |
| 8 | g.43199480G>T | CA371121478 | HGSNAT | c.1819G>T (p.Glu607Ter) n.1135G>T c.970G>T (p.Glu324Ter) c.1930G>T (p.Glu644Ter) c.1906G>T (p.Glu636Ter) c.1738G>T (p.Glu580Ter) c.1627G>T (p.Glu543Ter) c.955G>T (p.Glu319Ter) | gnomAD v4 |
| 8 | g.43199481A>C | CA371121480 | HGSNAT | c.1820A>C (p.Glu607Ala) n.1136A>C c.971A>C (p.Glu324Ala) c.1931A>C (p.Glu644Ala) c.1907A>C (p.Glu636Ala) c.1739A>C (p.Glu580Ala) c.1628A>C (p.Glu543Ala) c.956A>C (p.Glu319Ala) | |
| 8 | g.43199481A>G | CA371121482 | HGSNAT | c.1820A>G (p.Glu607Gly) n.1136A>G c.971A>G (p.Glu324Gly) c.1931A>G (p.Glu644Gly) c.1907A>G (p.Glu636Gly) c.1739A>G (p.Glu580Gly) c.1628A>G (p.Glu543Gly) c.956A>G (p.Glu319Gly) | gnomAD v4 |
| 8 | g.43199481A>T | CA371121485 | HGSNAT | c.1820A>T (p.Glu607Val) n.1136A>T c.971A>T (p.Glu324Val) c.1931A>T (p.Glu644Val) c.1907A>T (p.Glu636Val) c.1739A>T (p.Glu580Val) c.1628A>T (p.Glu543Val) c.956A>T (p.Glu319Val) | |
| 8 | g.43199482G>A | CA4737032 | HGSNAT | c.1821G>A (p.Glu607=) n.1137G>A c.972G>A (p.Glu324=) c.1932G>A (p.Glu644=) c.1908G>A (p.Glu636=) c.1740G>A (p.Glu580=) c.1629G>A (p.Glu543=) c.957G>A (p.Glu319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43199482G>C | CA371121490 | HGSNAT | c.1821G>C (p.Glu607Asp) n.1137G>C c.972G>C (p.Glu324Asp) c.1932G>C (p.Glu644Asp) c.1908G>C (p.Glu636Asp) c.1740G>C (p.Glu580Asp) c.1629G>C (p.Glu543Asp) c.957G>C (p.Glu319Asp) | |
| 8 | g.43199482G= | CA1779777515 | HGSNAT | c.1821G= (p.Glu607=) n.1137G= c.972G= (p.Glu324=) c.1932G= (p.Glu644=) c.1908G= (p.Glu636=) c.1740G= (p.Glu580=) c.1629G= (p.Glu543=) c.957G= (p.Glu319=) | |
| 8 | g.43199482G>T | CA371121488 | HGSNAT | c.1821G>T (p.Glu607Asp) n.1137G>T c.972G>T (p.Glu324Asp) c.1932G>T (p.Glu644Asp) c.1908G>T (p.Glu636Asp) c.1740G>T (p.Glu580Asp) c.1629G>T (p.Glu543Asp) c.957G>T (p.Glu319Asp) | |
| 8 | g.43199483C>A | CA371121493 | HGSNAT | c.1822C>A (p.His608Asn) n.1138C>A c.973C>A (p.His325Asn) c.1933C>A (p.His645Asn) c.1909C>A (p.His637Asn) c.1741C>A (p.His581Asn) c.1630C>A (p.His544Asn) c.958C>A (p.His320Asn) | |
| 8 | g.43199483C= | CA1779777516 | HGSNAT | c.1822C= (p.His608=) n.1138C= c.973C= (p.His325=) c.1933C= (p.His645=) c.1909C= (p.His637=) c.1741C= (p.His581=) c.1630C= (p.His544=) c.958C= (p.His320=) | |
| 8 | g.43199483C>G | CA371121495 | HGSNAT | c.1822C>G (p.His608Asp) n.1138C>G c.973C>G (p.His325Asp) c.1933C>G (p.His645Asp) c.1909C>G (p.His637Asp) c.1741C>G (p.His581Asp) c.1630C>G (p.His544Asp) c.958C>G (p.His320Asp) | |
| 8 | g.43199483C>T | CA371121497 | HGSNAT | c.1822C>T (p.His608Tyr) n.1138C>T c.973C>T (p.His325Tyr) c.1933C>T (p.His645Tyr) c.1909C>T (p.His637Tyr) c.1741C>T (p.His581Tyr) c.1630C>T (p.His544Tyr) c.958C>T (p.His320Tyr) | gnomAD v4 COSMIC COSMIC |
| 8 | g.43199484A>C | CA371121499 | HGSNAT | c.1823A>C (p.His608Pro) n.1139A>C c.974A>C (p.His325Pro) c.1934A>C (p.His645Pro) c.1910A>C (p.His637Pro) c.1742A>C (p.His581Pro) c.1631A>C (p.His544Pro) c.959A>C (p.His320Pro) | |
| 8 | g.43199484A>G | CA371121503 | HGSNAT | c.1823A>G (p.His608Arg) n.1139A>G c.974A>G (p.His325Arg) c.1934A>G (p.His645Arg) c.1910A>G (p.His637Arg) c.1742A>G (p.His581Arg) c.1631A>G (p.His544Arg) c.959A>G (p.His320Arg) | |
| 8 | g.43199484A>T | CA371121504 | HGSNAT | c.1823A>T (p.His608Leu) n.1139A>T c.974A>T (p.His325Leu) c.1934A>T (p.His645Leu) c.1910A>T (p.His637Leu) c.1742A>T (p.His581Leu) c.1631A>T (p.His544Leu) c.959A>T (p.His320Leu) | |
| 8 | g.43199484_43199487dup | CA4737033 | HGSNAT | c.1823_1826dup (p.Thr610ProfsTer20) n.1139_1142dup c.974_977dup (p.Thr327ProfsTer20) c.1934_1937dup (p.Thr647ProfsTer20) c.1910_1913dup (p.Thr639ProfsTer20) c.1742_1745dup (p.Thr583ProfsTer20) c.1631_1634dup (p.Thr546ProfsTer20) c.959_962dup (p.Thr322ProfsTer20) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43199485C>A | CA371121507 | HGSNAT | c.1824C>A (p.His608Gln) n.1140C>A c.975C>A (p.His325Gln) c.1935C>A (p.His645Gln) c.1911C>A (p.His637Gln) c.1743C>A (p.His581Gln) c.1632C>A (p.His544Gln) c.960C>A (p.His320Gln) | |
| 8 | g.43199485C>G | CA371121509 | HGSNAT | c.1824C>G (p.His608Gln) n.1140C>G c.975C>G (p.His325Gln) c.1935C>G (p.His645Gln) c.1911C>G (p.His637Gln) c.1743C>G (p.His581Gln) c.1632C>G (p.His544Gln) c.960C>G (p.His320Gln) | |
| 8 | g.43199485C>T | CA460580594 | HGSNAT | c.1824C>T (p.His608=) n.1140C>T c.975C>T (p.His325=) c.1935C>T (p.His645=) c.1911C>T (p.His637=) c.1743C>T (p.His581=) c.1632C>T (p.His544=) c.960C>T (p.His320=) | ClinVar dbSNP |
| 8 | g.43199486C>A | CA371121511 | HGSNAT | c.1825C>A (p.Leu609Met) n.1141C>A c.976C>A (p.Leu326Met) c.1936C>A (p.Leu646Met) c.1912C>A (p.Leu638Met) c.1744C>A (p.Leu582Met) c.1633C>A (p.Leu545Met) c.961C>A (p.Leu321Met) | |
| 8 | g.43199486C>G | CA371121514 | HGSNAT | c.1825C>G (p.Leu609Val) n.1141C>G c.976C>G (p.Leu326Val) c.1936C>G (p.Leu646Val) c.1912C>G (p.Leu638Val) c.1744C>G (p.Leu582Val) c.1633C>G (p.Leu545Val) c.961C>G (p.Leu321Val) | |
| 8 | g.43199486C>T | CA460580595 | HGSNAT | c.1825C>T (p.Leu609=) n.1141C>T c.976C>T (p.Leu326=) c.1936C>T (p.Leu646=) c.1912C>T (p.Leu638=) c.1744C>T (p.Leu582=) c.1633C>T (p.Leu545=) c.961C>T (p.Leu321=) | |
| 8 | g.43199487T>A | CA371121517 | HGSNAT | c.1826T>A (p.Leu609Gln) n.1142T>A c.977T>A (p.Leu326Gln) c.1937T>A (p.Leu646Gln) c.1913T>A (p.Leu638Gln) c.1745T>A (p.Leu582Gln) c.1634T>A (p.Leu545Gln) c.962T>A (p.Leu321Gln) | |
| 8 | g.43199487T>C | CA371121518 | HGSNAT | c.1826T>C (p.Leu609Pro) n.1142T>C c.977T>C (p.Leu326Pro) c.1937T>C (p.Leu646Pro) c.1913T>C (p.Leu638Pro) c.1745T>C (p.Leu582Pro) c.1634T>C (p.Leu545Pro) c.962T>C (p.Leu321Pro) | gnomAD v4 |
| 8 | g.43199487T>G | CA371121520 | HGSNAT | c.1826T>G (p.Leu609Arg) n.1142T>G c.977T>G (p.Leu326Arg) c.1937T>G (p.Leu646Arg) c.1913T>G (p.Leu638Arg) c.1745T>G (p.Leu582Arg) c.1634T>G (p.Leu545Arg) c.962T>G (p.Leu321Arg) | |
| 8 | g.43199488G>A | CA460580596 | HGSNAT | c.1827G>A (p.Leu609=) n.1143G>A c.978G>A (p.Leu326=) c.1938G>A (p.Leu646=) c.1914G>A (p.Leu638=) c.1746G>A (p.Leu582=) c.1635G>A (p.Leu545=) c.963G>A (p.Leu321=) | dbSNP |
| 8 | g.43199488G>C | CA460580597 | HGSNAT | c.1827G>C (p.Leu609=) n.1143G>C c.978G>C (p.Leu326=) c.1938G>C (p.Leu646=) c.1914G>C (p.Leu638=) c.1746G>C (p.Leu582=) c.1635G>C (p.Leu545=) c.963G>C (p.Leu321=) | |
| 8 | g.43199488G= | CA1779777517 | HGSNAT | c.1827G= (p.Leu609=) n.1143G= c.978G= (p.Leu326=) c.1938G= (p.Leu646=) c.1914G= (p.Leu638=) c.1746G= (p.Leu582=) c.1635G= (p.Leu545=) c.963G= (p.Leu321=) | |
| 8 | g.43199488G>T | CA460580598 | HGSNAT | c.1827G>T (p.Leu609=) n.1143G>T c.978G>T (p.Leu326=) c.1938G>T (p.Leu646=) c.1914G>T (p.Leu638=) c.1746G>T (p.Leu582=) c.1635G>T (p.Leu545=) c.963G>T (p.Leu321=) | |
| 8 | g.43199489A>C | CA371121524 | HGSNAT | c.1828A>C (p.Thr610Pro) n.1144A>C c.979A>C (p.Thr327Pro) c.1939A>C (p.Thr647Pro) c.1915A>C (p.Thr639Pro) c.1747A>C (p.Thr583Pro) c.1636A>C (p.Thr546Pro) c.964A>C (p.Thr322Pro) | |
| 8 | g.43199489A>G | CA371121528 | HGSNAT | c.1828A>G (p.Thr610Ala) n.1144A>G c.979A>G (p.Thr327Ala) c.1939A>G (p.Thr647Ala) c.1915A>G (p.Thr639Ala) c.1747A>G (p.Thr583Ala) c.1636A>G (p.Thr546Ala) c.964A>G (p.Thr322Ala) | |
| 8 | g.43199489A>T | CA371121525 | HGSNAT | c.1828A>T (p.Thr610Ser) n.1144A>T c.979A>T (p.Thr327Ser) c.1939A>T (p.Thr647Ser) c.1915A>T (p.Thr639Ser) c.1747A>T (p.Thr583Ser) c.1636A>T (p.Thr546Ser) c.964A>T (p.Thr322Ser) | |
| 8 | g.43199490C>A | CA371121531 | HGSNAT | c.1829C>A (p.Thr610Asn) n.1145C>A c.980C>A (p.Thr327Asn) c.1940C>A (p.Thr647Asn) c.1916C>A (p.Thr639Asn) c.1748C>A (p.Thr583Asn) c.1637C>A (p.Thr546Asn) c.965C>A (p.Thr322Asn) | |
| 8 | g.43199490C>G | CA371121533 | HGSNAT | c.1829C>G (p.Thr610Ser) n.1145C>G c.980C>G (p.Thr327Ser) c.1940C>G (p.Thr647Ser) c.1916C>G (p.Thr639Ser) c.1748C>G (p.Thr583Ser) c.1637C>G (p.Thr546Ser) c.965C>G (p.Thr322Ser) | |
| 8 | g.43199490C>T | CA371121535 | HGSNAT | c.1829C>T (p.Thr610Ile) n.1145C>T c.980C>T (p.Thr327Ile) c.1940C>T (p.Thr647Ile) c.1916C>T (p.Thr639Ile) c.1748C>T (p.Thr583Ile) c.1637C>T (p.Thr546Ile) c.965C>T (p.Thr322Ile) | |
| 8 | g.43199491T>A | CA460580601 | HGSNAT | c.1830T>A (p.Thr610=) n.1146T>A c.981T>A (p.Thr327=) c.1941T>A (p.Thr647=) c.1917T>A (p.Thr639=) c.1749T>A (p.Thr583=) c.1638T>A (p.Thr546=) c.966T>A (p.Thr322=) | |
| 8 | g.43199491T>C | CA460580600 | HGSNAT | c.1830T>C (p.Thr610=) n.1146T>C c.981T>C (p.Thr327=) c.1941T>C (p.Thr647=) c.1917T>C (p.Thr639=) c.1749T>C (p.Thr583=) c.1638T>C (p.Thr546=) c.966T>C (p.Thr322=) | gnomAD v4 |
| 8 | g.43199491T>G | CA460580599 | HGSNAT | c.1830T>G (p.Thr610=) n.1146T>G c.981T>G (p.Thr327=) c.1941T>G (p.Thr647=) c.1917T>G (p.Thr639=) c.1749T>G (p.Thr583=) c.1638T>G (p.Thr546=) c.966T>G (p.Thr322=) | |
| 8 | g.43199492C>A | CA371121537 | HGSNAT | c.1831C>A (p.Gln611Lys) n.1147C>A c.982C>A (p.Gln328Lys) c.1942C>A (p.Gln648Lys) c.1918C>A (p.Gln640Lys) c.1750C>A (p.Gln584Lys) c.1639C>A (p.Gln547Lys) c.967C>A (p.Gln323Lys) | COSMIC COSMIC |
| 8 | g.43199492C>G | CA371121539 | HGSNAT | c.1831C>G (p.Gln611Glu) n.1147C>G c.982C>G (p.Gln328Glu) c.1942C>G (p.Gln648Glu) c.1918C>G (p.Gln640Glu) c.1750C>G (p.Gln584Glu) c.1639C>G (p.Gln547Glu) c.967C>G (p.Gln323Glu) | COSMIC COSMIC |
| 8 | g.43199492C>T | CA371121541 | HGSNAT | c.1831C>T (p.Gln611Ter) n.1147C>T c.982C>T (p.Gln328Ter) c.1942C>T (p.Gln648Ter) c.1918C>T (p.Gln640Ter) c.1750C>T (p.Gln584Ter) c.1639C>T (p.Gln547Ter) c.967C>T (p.Gln323Ter) | |
| 8 | g.43199493A>C | CA371121544 | HGSNAT | c.1832A>C (p.Gln611Pro) n.1148A>C c.983A>C (p.Gln328Pro) c.1943A>C (p.Gln648Pro) c.1919A>C (p.Gln640Pro) c.1751A>C (p.Gln584Pro) c.1640A>C (p.Gln547Pro) c.968A>C (p.Gln323Pro) | |
| 8 | g.43199493A>G | CA371121546 | HGSNAT | c.1832A>G (p.Gln611Arg) n.1148A>G c.983A>G (p.Gln328Arg) c.1943A>G (p.Gln648Arg) c.1919A>G (p.Gln640Arg) c.1751A>G (p.Gln584Arg) c.1640A>G (p.Gln547Arg) c.968A>G (p.Gln323Arg) | |
| 8 | g.43199493A>T | CA371121547 | HGSNAT | c.1832A>T (p.Gln611Leu) n.1148A>T c.983A>T (p.Gln328Leu) c.1943A>T (p.Gln648Leu) c.1919A>T (p.Gln640Leu) c.1751A>T (p.Gln584Leu) c.1640A>T (p.Gln547Leu) c.968A>T (p.Gln323Leu) | |
| 8 | g.43199494G>A | CA460580602 | HGSNAT | c.1833G>A (p.Gln611=) n.1149G>A c.984G>A (p.Gln328=) c.1944G>A (p.Gln648=) c.1920G>A (p.Gln640=) c.1752G>A (p.Gln584=) c.1641G>A (p.Gln547=) c.969G>A (p.Gln323=) | dbSNP |
| 8 | g.43199494G>C | CA371121549 | HGSNAT | c.1833G>C (p.Gln611His) n.1149G>C c.984G>C (p.Gln328His) c.1944G>C (p.Gln648His) c.1920G>C (p.Gln640His) c.1752G>C (p.Gln584His) c.1641G>C (p.Gln547His) c.969G>C (p.Gln323His) | |
| 8 | g.43199494G= | CA1779777518 | HGSNAT | c.1833G= (p.Gln611=) n.1149G= c.984G= (p.Gln328=) c.1944G= (p.Gln648=) c.1920G= (p.Gln640=) c.1752G= (p.Gln584=) c.1641G= (p.Gln547=) c.969G= (p.Gln323=) | |
| 8 | g.43199494G>T | CA371121551 | HGSNAT | c.1833G>T (p.Gln611His) n.1149G>T c.984G>T (p.Gln328His) c.1944G>T (p.Gln648His) c.1920G>T (p.Gln640His) c.1752G>T (p.Gln584His) c.1641G>T (p.Gln547His) c.969G>T (p.Gln323His) | |
| 8 | g.43199495A>C | CA371121556 | HGSNAT | c.1834A>C (p.Asn612His) n.1150A>C c.985A>C (p.Asn329His) c.1945A>C (p.Asn649His) c.1921A>C (p.Asn641His) c.1753A>C (p.Asn585His) c.1642A>C (p.Asn548His) c.970A>C (p.Asn324His) | |
| 8 | g.43199495A>G | CA371121558 | HGSNAT | c.1834A>G (p.Asn612Asp) n.1150A>G c.985A>G (p.Asn329Asp) c.1945A>G (p.Asn649Asp) c.1921A>G (p.Asn641Asp) c.1753A>G (p.Asn585Asp) c.1642A>G (p.Asn548Asp) c.970A>G (p.Asn324Asp) | |
| 8 | g.43199495A>T | CA371121555 | HGSNAT | c.1834A>T (p.Asn612Tyr) n.1150A>T c.985A>T (p.Asn329Tyr) c.1945A>T (p.Asn649Tyr) c.1921A>T (p.Asn641Tyr) c.1753A>T (p.Asn585Tyr) c.1642A>T (p.Asn548Tyr) c.970A>T (p.Asn324Tyr) | |
| 8 | g.43199496A>C | CA371121561 | HGSNAT | c.1835A>C (p.Asn612Thr) n.1151A>C c.986A>C (p.Asn329Thr) c.1946A>C (p.Asn649Thr) c.1922A>C (p.Asn641Thr) c.1754A>C (p.Asn585Thr) c.1643A>C (p.Asn548Thr) c.971A>C (p.Asn324Thr) | |
| 8 | g.43199496A>G | CA371121565 | HGSNAT | c.1835A>G (p.Asn612Ser) n.1151A>G c.986A>G (p.Asn329Ser) c.1946A>G (p.Asn649Ser) c.1922A>G (p.Asn641Ser) c.1754A>G (p.Asn585Ser) c.1643A>G (p.Asn548Ser) c.971A>G (p.Asn324Ser) | |
| 8 | g.43199496A>T | CA371121564 | HGSNAT | c.1835A>T (p.Asn612Ile) n.1151A>T c.986A>T (p.Asn329Ile) c.1946A>T (p.Asn649Ile) c.1922A>T (p.Asn641Ile) c.1754A>T (p.Asn585Ile) c.1643A>T (p.Asn548Ile) c.971A>T (p.Asn324Ile) | |
| 8 | g.43199497C>A | CA371121568 | HGSNAT | c.1836C>A (p.Asn612Lys) n.1152C>A c.987C>A (p.Asn329Lys) c.1947C>A (p.Asn649Lys) c.1923C>A (p.Asn641Lys) c.1755C>A (p.Asn585Lys) c.1644C>A (p.Asn548Lys) c.972C>A (p.Asn324Lys) | gnomAD v4 |
| 8 | g.43199497C= | CA1779777519 | HGSNAT | c.1836C= (p.Asn612=) n.1152C= c.987C= (p.Asn329=) c.1947C= (p.Asn649=) c.1923C= (p.Asn641=) c.1755C= (p.Asn585=) c.1644C= (p.Asn548=) c.972C= (p.Asn324=) | |
| 8 | g.43199497C>G | CA371121571 | HGSNAT | c.1836C>G (p.Asn612Lys) n.1152C>G c.987C>G (p.Asn329Lys) c.1947C>G (p.Asn649Lys) c.1923C>G (p.Asn641Lys) c.1755C>G (p.Asn585Lys) c.1644C>G (p.Asn548Lys) c.972C>G (p.Asn324Lys) | |
| 8 | g.43199497C>T | CA4737034 | HGSNAT | c.1836C>T (p.Asn612=) n.1152C>T c.987C>T (p.Asn329=) c.1947C>T (p.Asn649=) c.1923C>T (p.Asn641=) c.1755C>T (p.Asn585=) c.1644C>T (p.Asn548=) c.972C>T (p.Asn324=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199498A= | CA1779777520 | HGSNAT | c.1837A= (p.Ile613=) n.1153A= c.988A= (p.Ile330=) c.1948A= (p.Ile650=) c.1924A= (p.Ile642=) c.1756A= (p.Ile586=) c.1645A= (p.Ile549=) c.973A= (p.Ile325=) | |
| 8 | g.43199498A>C | CA371121574 | HGSNAT | c.1837A>C (p.Ile613Leu) n.1153A>C c.988A>C (p.Ile330Leu) c.1948A>C (p.Ile650Leu) c.1924A>C (p.Ile642Leu) c.1756A>C (p.Ile586Leu) c.1645A>C (p.Ile549Leu) c.973A>C (p.Ile325Leu) | |
| 8 | g.43199498A>G | CA371121577 | HGSNAT | c.1837A>G (p.Ile613Val) n.1153A>G c.988A>G (p.Ile330Val) c.1948A>G (p.Ile650Val) c.1924A>G (p.Ile642Val) c.1756A>G (p.Ile586Val) c.1645A>G (p.Ile549Val) c.973A>G (p.Ile325Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43199498A>T | CA371121575 | HGSNAT | c.1837A>T (p.Ile613Phe) n.1153A>T c.988A>T (p.Ile330Phe) c.1948A>T (p.Ile650Phe) c.1924A>T (p.Ile642Phe) c.1756A>T (p.Ile586Phe) c.1645A>T (p.Ile549Phe) c.973A>T (p.Ile325Phe) | |
| 8 | g.43199499T>A | CA371121580 | HGSNAT | c.1838T>A (p.Ile613Asn) n.1154T>A c.989T>A (p.Ile330Asn) c.1949T>A (p.Ile650Asn) c.1925T>A (p.Ile642Asn) c.1757T>A (p.Ile586Asn) c.1646T>A (p.Ile549Asn) c.974T>A (p.Ile325Asn) | |
| 8 | g.43199499T>C | CA371121584 | HGSNAT | c.1838T>C (p.Ile613Thr) n.1154T>C c.989T>C (p.Ile330Thr) c.1949T>C (p.Ile650Thr) c.1925T>C (p.Ile642Thr) c.1757T>C (p.Ile586Thr) c.1646T>C (p.Ile549Thr) c.974T>C (p.Ile325Thr) | |
| 8 | g.43199499T>G | CA371121581 | HGSNAT | c.1838T>G (p.Ile613Ser) n.1154T>G c.989T>G (p.Ile330Ser) c.1949T>G (p.Ile650Ser) c.1925T>G (p.Ile642Ser) c.1757T>G (p.Ile586Ser) c.1646T>G (p.Ile549Ser) c.974T>G (p.Ile325Ser) | |
| 8 | g.43199500C>A | CA460580603 | HGSNAT | c.1839C>A (p.Ile613=) n.1155C>A c.990C>A (p.Ile330=) c.1950C>A (p.Ile650=) c.1926C>A (p.Ile642=) c.1758C>A (p.Ile586=) c.1647C>A (p.Ile549=) c.975C>A (p.Ile325=) | gnomAD v4 |
| 8 | g.43199500C= | CA1779777521 | HGSNAT | c.1839C= (p.Ile613=) n.1155C= c.990C= (p.Ile330=) c.1950C= (p.Ile650=) c.1926C= (p.Ile642=) c.1758C= (p.Ile586=) c.1647C= (p.Ile549=) c.975C= (p.Ile325=) | |
| 8 | g.43199500C>G | CA371121586 | HGSNAT | c.1839C>G (p.Ile613Met) n.1155C>G c.990C>G (p.Ile330Met) c.1950C>G (p.Ile650Met) c.1926C>G (p.Ile642Met) c.1758C>G (p.Ile586Met) c.1647C>G (p.Ile549Met) c.975C>G (p.Ile325Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43199500C>T | CA4737035 | HGSNAT | c.1839C>T (p.Ile613=) n.1155C>T c.990C>T (p.Ile330=) c.1950C>T (p.Ile650=) c.1926C>T (p.Ile642=) c.1758C>T (p.Ile586=) c.1647C>T (p.Ile549=) c.975C>T (p.Ile325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.43199501G>A | CA180116 | HGSNAT | c.1840G>A (p.Val614Ile) n.1156G>A c.991G>A (p.Val331Ile) c.1951G>A (p.Val651Ile) c.1927G>A (p.Val643Ile) c.1759G>A (p.Val587Ile) c.1648G>A (p.Val550Ile) c.976G>A (p.Val326Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199501G>C | CA371121591 | HGSNAT | c.1840G>C (p.Val614Leu) n.1156G>C c.991G>C (p.Val331Leu) c.1951G>C (p.Val651Leu) c.1927G>C (p.Val643Leu) c.1759G>C (p.Val587Leu) c.1648G>C (p.Val550Leu) c.976G>C (p.Val326Leu) | |
| 8 | g.43199501G= | CA1779777522 | HGSNAT | c.1840G= (p.Val614=) n.1156G= c.991G= (p.Val331=) c.1951G= (p.Val651=) c.1927G= (p.Val643=) c.1759G= (p.Val587=) c.1648G= (p.Val550=) c.976G= (p.Val326=) | |
| 8 | g.43199501G>T | CA371121592 | HGSNAT | c.1840G>T (p.Val614Phe) n.1156G>T c.991G>T (p.Val331Phe) c.1951G>T (p.Val651Phe) c.1927G>T (p.Val643Phe) c.1759G>T (p.Val587Phe) c.1648G>T (p.Val550Phe) c.976G>T (p.Val326Phe) | |
| 8 | g.43199502T>A | CA371121595 | HGSNAT | c.1841T>A (p.Val614Asp) n.1157T>A c.992T>A (p.Val331Asp) c.1952T>A (p.Val651Asp) c.1928T>A (p.Val643Asp) c.1760T>A (p.Val587Asp) c.1649T>A (p.Val550Asp) c.977T>A (p.Val326Asp) | |
| 8 | g.43199502T>C | CA371121598 | HGSNAT | c.1841T>C (p.Val614Ala) n.1157T>C c.992T>C (p.Val331Ala) c.1952T>C (p.Val651Ala) c.1928T>C (p.Val643Ala) c.1760T>C (p.Val587Ala) c.1649T>C (p.Val550Ala) c.977T>C (p.Val326Ala) | |
| 8 | g.43199502T>G | CA371121599 | HGSNAT | c.1841T>G (p.Val614Gly) n.1157T>G c.992T>G (p.Val331Gly) c.1952T>G (p.Val651Gly) c.1928T>G (p.Val643Gly) c.1760T>G (p.Val587Gly) c.1649T>G (p.Val550Gly) c.977T>G (p.Val326Gly) | |
| 8 | g.43199503C>A | CA176077002 | HGSNAT | c.1842C>A (p.Val614=) n.1158C>A c.993C>A (p.Val331=) c.1953C>A (p.Val651=) c.1929C>A (p.Val643=) c.1761C>A (p.Val587=) c.1650C>A (p.Val550=) c.978C>A (p.Val326=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.43199503C= | CA1779777523 | HGSNAT | c.1842C= (p.Val614=) n.1158C= c.993C= (p.Val331=) c.1953C= (p.Val651=) c.1929C= (p.Val643=) c.1761C= (p.Val587=) c.1650C= (p.Val550=) c.978C= (p.Val326=) | |
| 8 | g.43199503C>G | CA460580604 | HGSNAT | c.1842C>G (p.Val614=) n.1158C>G c.993C>G (p.Val331=) c.1953C>G (p.Val651=) c.1929C>G (p.Val643=) c.1761C>G (p.Val587=) c.1650C>G (p.Val550=) c.978C>G (p.Val326=) | COSMIC COSMIC |
| 8 | g.43199503C>T | CA4737036 | HGSNAT | c.1842C>T (p.Val614=) n.1158C>T c.993C>T (p.Val331=) c.1953C>T (p.Val651=) c.1929C>T (p.Val643=) c.1761C>T (p.Val587=) c.1650C>T (p.Val550=) c.978C>T (p.Val326=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199504G>A | CA204929 | HGSNAT | c.1843G>A (p.Ala615Thr) n.1159G>A c.994G>A (p.Ala332Thr) c.1954G>A (p.Ala652Thr) c.1930G>A (p.Ala644Thr) c.1762G>A (p.Ala588Thr) c.1651G>A (p.Ala551Thr) c.979G>A (p.Ala327Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43199504G>C | CA371121604 | HGSNAT | c.1843G>C (p.Ala615Pro) n.1159G>C c.994G>C (p.Ala332Pro) c.1954G>C (p.Ala652Pro) c.1930G>C (p.Ala644Pro) c.1762G>C (p.Ala588Pro) c.1651G>C (p.Ala551Pro) c.979G>C (p.Ala327Pro) | |
| 8 | g.43199504G= | CA1779777524 | HGSNAT | c.1843G= (p.Ala615=) n.1159G= c.994G= (p.Ala332=) c.1954G= (p.Ala652=) c.1930G= (p.Ala644=) c.1762G= (p.Ala588=) c.1651G= (p.Ala551=) c.979G= (p.Ala327=) | |
| 8 | g.43199504G>T | CA371121606 | HGSNAT | c.1843G>T (p.Ala615Ser) n.1159G>T c.994G>T (p.Ala332Ser) c.1954G>T (p.Ala652Ser) c.1930G>T (p.Ala644Ser) c.1762G>T (p.Ala588Ser) c.1651G>T (p.Ala551Ser) c.979G>T (p.Ala327Ser) | |
| 8 | g.43199505C>A | CA371121611 | HGSNAT | c.1844C>A (p.Ala615Asp) n.1160C>A c.995C>A (p.Ala332Asp) c.1955C>A (p.Ala652Asp) c.1931C>A (p.Ala644Asp) c.1763C>A (p.Ala588Asp) c.1652C>A (p.Ala551Asp) c.980C>A (p.Ala327Asp) | |
| 8 | g.43199505C>G | CA371121614 | HGSNAT | c.1844C>G (p.Ala615Gly) n.1160C>G c.995C>G (p.Ala332Gly) c.1955C>G (p.Ala652Gly) c.1931C>G (p.Ala644Gly) c.1763C>G (p.Ala588Gly) c.1652C>G (p.Ala551Gly) c.980C>G (p.Ala327Gly) | |
| 8 | g.43199505C>T | CA371121615 | HGSNAT | c.1844C>T (p.Ala615Val) n.1160C>T c.995C>T (p.Ala332Val) c.1955C>T (p.Ala652Val) c.1931C>T (p.Ala644Val) c.1763C>T (p.Ala588Val) c.1652C>T (p.Ala551Val) c.980C>T (p.Ala327Val) | |
| 8 | g.43199506C>A | CA460580606 | HGSNAT | c.1845C>A (p.Ala615=) n.1161C>A c.996C>A (p.Ala332=) c.1956C>A (p.Ala652=) c.1932C>A (p.Ala644=) c.1764C>A (p.Ala588=) c.1653C>A (p.Ala551=) c.981C>A (p.Ala327=) | |
| 8 | g.43199506C= | CA1779777525 | HGSNAT | c.1845C= (p.Ala615=) n.1161C= c.996C= (p.Ala332=) c.1956C= (p.Ala652=) c.1932C= (p.Ala644=) c.1764C= (p.Ala588=) c.1653C= (p.Ala551=) c.981C= (p.Ala327=) | |
| 8 | g.43199506C>G | CA4737037 | HGSNAT | c.1845C>G (p.Ala615=) n.1161C>G c.996C>G (p.Ala332=) c.1956C>G (p.Ala652=) c.1932C>G (p.Ala644=) c.1764C>G (p.Ala588=) c.1653C>G (p.Ala551=) c.981C>G (p.Ala327=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43199506C>T | CA460580605 | HGSNAT | c.1845C>T (p.Ala615=) n.1161C>T c.996C>T (p.Ala332=) c.1956C>T (p.Ala652=) c.1932C>T (p.Ala644=) c.1764C>T (p.Ala588=) c.1653C>T (p.Ala551=) c.981C>T (p.Ala327=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.43199507A>C | CA371121620 | HGSNAT | c.1846A>C (p.Thr616Pro) n.1162A>C c.997A>C (p.Thr333Pro) c.1957A>C (p.Thr653Pro) c.1933A>C (p.Thr645Pro) c.1765A>C (p.Thr589Pro) c.1654A>C (p.Thr552Pro) c.982A>C (p.Thr328Pro) | |
| 8 | g.43199507A>G | CA371121622 | HGSNAT | c.1846A>G (p.Thr616Ala) n.1162A>G c.997A>G (p.Thr333Ala) c.1957A>G (p.Thr653Ala) c.1933A>G (p.Thr645Ala) c.1765A>G (p.Thr589Ala) c.1654A>G (p.Thr552Ala) c.982A>G (p.Thr328Ala) | |
| 8 | g.43199507A>T | CA371121624 | HGSNAT | c.1846A>T (p.Thr616Ser) n.1162A>T c.997A>T (p.Thr333Ser) c.1957A>T (p.Thr653Ser) c.1933A>T (p.Thr645Ser) c.1765A>T (p.Thr589Ser) c.1654A>T (p.Thr552Ser) c.982A>T (p.Thr328Ser) |