Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.75835417_75835429delinsTCTGCACAGCGCGCA2275706451UNC13Dc.763_775delinsCGCGCTGTGCAGA (p.Arg255=)
c.1828_1840delinsCGCGCTGTGCAGA (p.Arg610=)
n.2098_2110delinsCGCGCTGTGCAGA
c.1825_1837delinsCGCGCTGTGCAGA (p.Arg609=)
c.1219_1231delinsCGCGCTGTGCAGA (p.Arg407=)
17g.75835424_75835435delCA252025UNC13Dc.763_774del (p.Arg255_Gln258del)
c.1828_1839del (p.Arg610_Gln613del)
n.2098_2109del
c.1825_1836del (p.Arg609_Gln612del)
c.1219_1230del (p.Arg407_Gln410del)
 ClinVar dbSNP gnomAD v4
17g.75835427G>ACA8772789UNC13Dc.765C>T (p.Arg255=)
c.1830C>T (p.Arg610=)
c.558C>T (p.Arg186=)
n.2100C>T
c.1827C>T (p.Arg609=)
c.1221C>T (p.Arg407=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835427G>CCA502049648UNC13Dc.765C>G (p.Arg255=)
c.1830C>G (p.Arg610=)
c.558C>G (p.Arg186=)
n.2100C>G
c.1827C>G (p.Arg609=)
c.1221C>G (p.Arg407=)
 dbSNP gnomAD v3 gnomAD v4
17g.75835427G=CA2275706463UNC13Dc.765C= (p.Arg255=)
c.1830C= (p.Arg610=)
c.558C= (p.Arg186=)
n.2100C=
c.1827C= (p.Arg609=)
c.1221C= (p.Arg407=)
17g.75835427G>TCA502049649UNC13Dc.765C>A (p.Arg255=)
c.1830C>A (p.Arg610=)
c.558C>A (p.Arg186=)
n.2100C>A
c.1827C>A (p.Arg609=)
c.1221C>A (p.Arg407=)
 ClinVar gnomAD v4
17g.75835428_75835445delCA2580095168UNC13Dc.748_765del (p.Leu250_Arg255del)
c.1813_1830del (p.Leu605_Arg610del)
c.541_558del (p.Leu181_Arg186del)
n.2083_2100del
c.1810_1827del (p.Leu604_Arg609del)
c.1204_1221del (p.Leu402_Arg407del)
 ClinVar dbSNP
17g.75835428C>ACA401092188UNC13Dc.764G>T (p.Arg255Leu)
c.1829G>T (p.Arg610Leu)
c.557G>T (p.Arg186Leu)
n.2099G>T
c.1826G>T (p.Arg609Leu)
c.1220G>T (p.Arg407Leu)
 dbSNP
17g.75835428C=CA2275706466UNC13Dc.764G= (p.Arg255=)
c.1829G= (p.Arg610=)
c.557G= (p.Arg186=)
n.2099G=
c.1826G= (p.Arg609=)
c.1220G= (p.Arg407=)
17g.75835428C>GCA401092191UNC13Dc.764G>C (p.Arg255Pro)
c.1829G>C (p.Arg610Pro)
c.557G>C (p.Arg186Pro)
n.2099G>C
c.1826G>C (p.Arg609Pro)
c.1220G>C (p.Arg407Pro)
17g.75835428C>TCA8772790UNC13Dc.764G>A (p.Arg255His)
c.1829G>A (p.Arg610His)
c.557G>A (p.Arg186His)
n.2099G>A
c.1826G>A (p.Arg609His)
c.1220G>A (p.Arg407His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835428_75835429insTCA2695226980UNC13Dc.763_764insA (p.Arg255GlnfsTer7)
c.1828_1829insA (p.Arg610GlnfsTer7)
c.556_557insA (p.Arg186GlnfsTer?)
n.2098_2099insA
c.1825_1826insA (p.Arg609GlnfsTer7)
c.1219_1220insA (p.Arg407GlnfsTer7)
17g.75835429delCA2639895714UNC13Dc.763del (p.Arg255AlafsTer25)
c.1828del (p.Arg610AlafsTer14)
c.556del (p.Arg186AlafsTer?)
n.2098del
c.1825del (p.Arg609AlafsTer14)
c.1219del (p.Arg407AlafsTer14)
 gnomAD v4
17g.75835429G>ACA8772791UNC13Dc.763C>T (p.Arg255Cys)
c.1828C>T (p.Arg610Cys)
c.556C>T (p.Arg186Cys)
n.2098C>T
c.1825C>T (p.Arg609Cys)
c.1219C>T (p.Arg407Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.75835429G>CCA401092198UNC13Dc.763C>G (p.Arg255Gly)
c.1828C>G (p.Arg610Gly)
c.556C>G (p.Arg186Gly)
n.2098C>G
c.1825C>G (p.Arg609Gly)
c.1219C>G (p.Arg407Gly)
17g.75835429G=CA2275706469UNC13Dc.763C= (p.Arg255=)
c.1828C= (p.Arg610=)
c.556C= (p.Arg186=)
n.2098C=
c.1825C= (p.Arg609=)
c.1219C= (p.Arg407=)
17g.75835429G>TCA401092205UNC13Dc.763C>A (p.Arg255Ser)
c.1828C>A (p.Arg610Ser)
c.556C>A (p.Arg186Ser)
n.2098C>A
c.1825C>A (p.Arg609Ser)
c.1219C>A (p.Arg407Ser)
 gnomAD v4
17g.75835431_75835433dupCA919896597UNC13Dc.761_763dup (p.Gln254_Arg255insGln)
c.1826_1828dup (p.Gln609_Arg610insGln)
c.554_556dup (p.Gln185_Arg186insGln)
n.2096_2098dup
c.1823_1825dup (p.Gln608_Arg609insGln)
c.1217_1219dup (p.Gln406_Arg407insGln)
 dbSNP
17g.75835430C>ACA401092213UNC13Dc.762G>T (p.Gln254His)
c.1827G>T (p.Gln609His)
c.555G>T (p.Gln185His)
n.2097G>T
c.1824G>T (p.Gln608His)
c.1218G>T (p.Gln406His)
 gnomAD v4
17g.75835430C>GCA401092214UNC13Dc.762G>C (p.Gln254His)
c.1827G>C (p.Gln609His)
c.555G>C (p.Gln185His)
n.2097G>C
c.1824G>C (p.Gln608His)
c.1218G>C (p.Gln406His)
17g.75835430C>TCA502049654UNC13Dc.762G>A (p.Gln254=)
c.1827G>A (p.Gln609=)
c.555G>A (p.Gln185=)
n.2097G>A
c.1824G>A (p.Gln608=)
c.1218G>A (p.Gln406=)
17g.75835431T>ACA401092218UNC13Dc.761A>T (p.Gln254Leu)
c.1826A>T (p.Gln609Leu)
c.554A>T (p.Gln185Leu)
n.2096A>T
c.1823A>T (p.Gln608Leu)
c.1217A>T (p.Gln406Leu)
17g.75835431T>CCA401092221UNC13Dc.761A>G (p.Gln254Arg)
c.1826A>G (p.Gln609Arg)
c.554A>G (p.Gln185Arg)
n.2096A>G
c.1823A>G (p.Gln608Arg)
c.1217A>G (p.Gln406Arg)
 gnomAD v4
17g.75835431T>GCA401092224UNC13Dc.761A>C (p.Gln254Pro)
c.1826A>C (p.Gln609Pro)
c.554A>C (p.Gln185Pro)
n.2096A>C
c.1823A>C (p.Gln608Pro)
c.1217A>C (p.Gln406Pro)
17g.75835432G>ACA401092226UNC13Dc.760C>T (p.Gln254Ter)
c.1825C>T (p.Gln609Ter)
c.553C>T (p.Gln185Ter)
n.2095C>T
c.1822C>T (p.Gln608Ter)
c.1216C>T (p.Gln406Ter)
 ClinVar gnomAD v4
17g.75835432G>CCA401092228UNC13Dc.760C>G (p.Gln254Glu)
c.1825C>G (p.Gln609Glu)
c.553C>G (p.Gln185Glu)
n.2095C>G
c.1822C>G (p.Gln608Glu)
c.1216C>G (p.Gln406Glu)
17g.75835432G>TCA401092231UNC13Dc.760C>A (p.Gln254Lys)
c.1825C>A (p.Gln609Lys)
c.553C>A (p.Gln185Lys)
n.2095C>A
c.1822C>A (p.Gln608Lys)
c.1216C>A (p.Gln406Lys)
17g.75835433C>ACA502049658UNC13Dc.759G>T (p.Val253=)
c.1824G>T (p.Val608=)
c.552G>T (p.Val184=)
n.2094G>T
c.1821G>T (p.Val607=)
c.1215G>T (p.Val405=)
17g.75835433C=CA2275706472UNC13Dc.759G= (p.Val253=)
c.1824G= (p.Val608=)
c.552G= (p.Val184=)
n.2094G=
c.1821G= (p.Val607=)
c.1215G= (p.Val405=)
17g.75835433C>GCA502049660UNC13Dc.759G>C (p.Val253=)
c.1824G>C (p.Val608=)
c.552G>C (p.Val184=)
n.2094G>C
c.1821G>C (p.Val607=)
c.1215G>C (p.Val405=)
17g.75835433C>TCA502049662UNC13Dc.759G>A (p.Val253=)
c.1824G>A (p.Val608=)
c.552G>A (p.Val184=)
n.2094G>A
c.1821G>A (p.Val607=)
c.1215G>A (p.Val405=)
17g.75835434A>CCA401092234UNC13Dc.758T>G (p.Val253Gly)
c.1823T>G (p.Val608Gly)
c.551T>G (p.Val184Gly)
n.2093T>G
c.1820T>G (p.Val607Gly)
c.1214T>G (p.Val405Gly)
17g.75835434A>GCA401092243UNC13Dc.758T>C (p.Val253Ala)
c.1823T>C (p.Val608Ala)
c.551T>C (p.Val184Ala)
n.2093T>C
c.1820T>C (p.Val607Ala)
c.1214T>C (p.Val405Ala)
17g.75835434A>TCA401092246UNC13Dc.758T>A (p.Val253Glu)
c.1823T>A (p.Val608Glu)
c.551T>A (p.Val184Glu)
n.2093T>A
c.1820T>A (p.Val607Glu)
c.1214T>A (p.Val405Glu)
17g.75835434dupCA2275706474UNC13Dc.758dup (p.Gln254AlafsTer8)
c.1823dup (p.Gln609AlafsTer8)
c.551dup (p.Gln185AlafsTer?)
n.2093dup
c.1820dup (p.Gln608AlafsTer8)
c.1214dup (p.Gln406AlafsTer8)
 dbSNP
17g.75835435C>ACA401092255UNC13Dc.757G>T (p.Val253Leu)
c.1822G>T (p.Val608Leu)
c.550G>T (p.Val184Leu)
n.2092G>T
c.1819G>T (p.Val607Leu)
c.1213G>T (p.Val405Leu)
 gnomAD v4
17g.75835435C=CA2275706476UNC13Dc.757G= (p.Val253=)
c.1822G= (p.Val608=)
c.550G= (p.Val184=)
n.2092G=
c.1819G= (p.Val607=)
c.1213G= (p.Val405=)
17g.75835435C>GCA401092252UNC13Dc.757G>C (p.Val253Leu)
c.1822G>C (p.Val608Leu)
c.550G>C (p.Val184Leu)
n.2092G>C
c.1819G>C (p.Val607Leu)
c.1213G>C (p.Val405Leu)
17g.75835435C>TCA401092249UNC13Dc.757G>A (p.Val253Met)
c.1822G>A (p.Val608Met)
c.550G>A (p.Val184Met)
n.2092G>A
c.1819G>A (p.Val607Met)
c.1213G>A (p.Val405Met)
 dbSNP
17g.75835437delCA2695226981UNC13Dc.757del (p.Val253CysfsTer27)
c.1822del (p.Val608CysfsTer16)
c.550del (p.Val184CysfsTer?)
n.2092del
c.1819del (p.Val607CysfsTer16)
c.1213del (p.Val405CysfsTer16)
17g.75835436C>ACA502049666UNC13Dc.756G>T (p.Arg252=)
c.1821G>T (p.Arg607=)
c.549G>T (p.Arg183=)
n.2091G>T
c.1818G>T (p.Arg606=)
c.1212G>T (p.Arg404=)
17g.75835436C>GCA502049668UNC13Dc.756G>C (p.Arg252=)
c.1821G>C (p.Arg607=)
c.549G>C (p.Arg183=)
n.2091G>C
c.1818G>C (p.Arg606=)
c.1212G>C (p.Arg404=)
 ClinVar
17g.75835436C>TCA502049670UNC13Dc.756G>A (p.Arg252=)
c.1821G>A (p.Arg607=)
c.549G>A (p.Arg183=)
n.2091G>A
c.1818G>A (p.Arg606=)
c.1212G>A (p.Arg404=)
 gnomAD v4
17g.75835437C>ACA8772793UNC13Dc.755G>T (p.Arg252Leu)
c.1820G>T (p.Arg607Leu)
c.548G>T (p.Arg183Leu)
n.2090G>T
c.1817G>T (p.Arg606Leu)
c.1211G>T (p.Arg404Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75835437C=CA2275706479UNC13Dc.755G= (p.Arg252=)
c.1820G= (p.Arg607=)
c.548G= (p.Arg183=)
n.2090G=
c.1817G= (p.Arg606=)
c.1211G= (p.Arg404=)
17g.75835437C>GCA8772792UNC13Dc.755G>C (p.Arg252Pro)
c.1820G>C (p.Arg607Pro)
c.548G>C (p.Arg183Pro)
n.2090G>C
c.1817G>C (p.Arg606Pro)
c.1211G>C (p.Arg404Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835437C>TCA8772794UNC13Dc.755G>A (p.Arg252Gln)
c.1820G>A (p.Arg607Gln)
c.548G>A (p.Arg183Gln)
n.2090G>A
c.1817G>A (p.Arg606Gln)
c.1211G>A (p.Arg404Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835438G>ACA8772795UNC13Dc.754C>T (p.Arg252Trp)
c.1819C>T (p.Arg607Trp)
c.547C>T (p.Arg183Trp)
n.2089C>T
c.1816C>T (p.Arg606Trp)
c.1210C>T (p.Arg404Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.75835438G>CCA294086694UNC13Dc.754C>G (p.Arg252Gly)
c.1819C>G (p.Arg607Gly)
c.547C>G (p.Arg183Gly)
n.2089C>G
c.1816C>G (p.Arg606Gly)
c.1210C>G (p.Arg404Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.75835438G=CA2275706482UNC13Dc.754C= (p.Arg252=)
c.1819C= (p.Arg607=)
c.547C= (p.Arg183=)
n.2089C=
c.1816C= (p.Arg606=)
c.1210C= (p.Arg404=)
17g.75835438G>TCA502049672UNC13Dc.754C>A (p.Arg252=)
c.1819C>A (p.Arg607=)
c.547C>A (p.Arg183=)
n.2089C>A
c.1816C>A (p.Arg606=)
c.1210C>A (p.Arg404=)
17g.75835438_75835454dupCA2695226982UNC13Dc.738_754dup (p.Arg252ProfsTer34)
c.1803_1819dup (p.Arg607ProfsTer23)
c.531_547dup (p.Arg183ProfsTer?)
n.2073_2089dup
c.1800_1816dup (p.Arg606ProfsTer23)
c.1194_1210dup (p.Arg404ProfsTer23)
17g.75835439C>ACA8772797UNC13Dc.753G>T (p.Ala251=)
c.1818G>T (p.Ala606=)
c.546G>T (p.Ala182=)
n.2088G>T
c.1815G>T (p.Ala605=)
c.1209G>T (p.Ala403=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835439C=CA2275706487UNC13Dc.753G= (p.Ala251=)
c.1818G= (p.Ala606=)
c.546G= (p.Ala182=)
n.2088G=
c.1815G= (p.Ala605=)
c.1209G= (p.Ala403=)
17g.75835439C>GCA502049676UNC13Dc.753G>C (p.Ala251=)
c.1818G>C (p.Ala606=)
c.546G>C (p.Ala182=)
n.2088G>C
c.1815G>C (p.Ala605=)
c.1209G>C (p.Ala403=)
 dbSNP gnomAD v2 gnomAD v4
17g.75835439C>TCA8772796UNC13Dc.753G>A (p.Ala251=)
c.1818G>A (p.Ala606=)
c.546G>A (p.Ala182=)
n.2088G>A
c.1815G>A (p.Ala605=)
c.1209G>A (p.Ala403=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835440G>ACA8772798UNC13Dc.752C>T (p.Ala251Val)
c.1817C>T (p.Ala606Val)
c.545C>T (p.Ala182Val)
n.2087C>T
c.1814C>T (p.Ala605Val)
c.1208C>T (p.Ala403Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835440G>CCA401092283UNC13Dc.752C>G (p.Ala251Gly)
c.1817C>G (p.Ala606Gly)
c.545C>G (p.Ala182Gly)
n.2087C>G
c.1814C>G (p.Ala605Gly)
c.1208C>G (p.Ala403Gly)
 dbSNP gnomAD v4
17g.75835440G=CA2275706488UNC13Dc.752C= (p.Ala251=)
c.1817C= (p.Ala606=)
c.545C= (p.Ala182=)
n.2087C=
c.1814C= (p.Ala605=)
c.1208C= (p.Ala403=)
17g.75835440G>TCA401092286UNC13Dc.752C>A (p.Ala251Glu)
c.1817C>A (p.Ala606Glu)
c.545C>A (p.Ala182Glu)
n.2087C>A
c.1814C>A (p.Ala605Glu)
c.1208C>A (p.Ala403Glu)
17g.75835441C>ACA401092291UNC13Dc.751G>T (p.Ala251Ser)
c.1816G>T (p.Ala606Ser)
c.544G>T (p.Ala182Ser)
n.2086G>T
c.1813G>T (p.Ala605Ser)
c.1207G>T (p.Ala403Ser)
17g.75835441C=CA2275706490UNC13Dc.751G= (p.Ala251=)
c.1816G= (p.Ala606=)
c.544G= (p.Ala182=)
n.2086G=
c.1813G= (p.Ala605=)
c.1207G= (p.Ala403=)
17g.75835441C>GCA8772799UNC13Dc.751G>C (p.Ala251Pro)
c.1816G>C (p.Ala606Pro)
c.544G>C (p.Ala182Pro)
n.2086G>C
c.1813G>C (p.Ala605Pro)
c.1207G>C (p.Ala403Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75835441C>TCA401092300UNC13Dc.751G>A (p.Ala251Thr)
c.1816G>A (p.Ala606Thr)
c.544G>A (p.Ala182Thr)
n.2086G>A
c.1813G>A (p.Ala605Thr)
c.1207G>A (p.Ala403Thr)
 gnomAD v4
17g.75835442C>ACA502049680UNC13Dc.750G>T (p.Leu250=)
c.1815G>T (p.Leu605=)
c.543G>T (p.Leu181=)
n.2085G>T
c.1812G>T (p.Leu604=)
c.1206G>T (p.Leu402=)
 gnomAD v4
17g.75835442C>GCA502049683UNC13Dc.750G>C (p.Leu250=)
c.1815G>C (p.Leu605=)
c.543G>C (p.Leu181=)
n.2085G>C
c.1812G>C (p.Leu604=)
c.1206G>C (p.Leu402=)
17g.75835442C>TCA502049686UNC13Dc.750G>A (p.Leu250=)
c.1815G>A (p.Leu605=)
c.543G>A (p.Leu181=)
n.2085G>A
c.1812G>A (p.Leu604=)
c.1206G>A (p.Leu402=)
 gnomAD v4
17g.75835443A>CCA401092310UNC13Dc.749T>G (p.Leu250Arg)
c.1814T>G (p.Leu605Arg)
c.542T>G (p.Leu181Arg)
n.2084T>G
c.1811T>G (p.Leu604Arg)
c.1205T>G (p.Leu402Arg)
17g.75835443A>GCA401092304UNC13Dc.749T>C (p.Leu250Pro)
c.1814T>C (p.Leu605Pro)
c.542T>C (p.Leu181Pro)
n.2084T>C
c.1811T>C (p.Leu604Pro)
c.1205T>C (p.Leu402Pro)
 gnomAD v4
17g.75835443A>TCA401092307UNC13Dc.749T>A (p.Leu250Gln)
c.1814T>A (p.Leu605Gln)
c.542T>A (p.Leu181Gln)
n.2084T>A
c.1811T>A (p.Leu604Gln)
c.1205T>A (p.Leu402Gln)
17g.75835444G>ACA502049689UNC13Dc.748C>T (p.Leu250=)
c.1813C>T (p.Leu605=)
c.541C>T (p.Leu181=)
n.2083C>T
c.1810C>T (p.Leu604=)
c.1204C>T (p.Leu402=)
17g.75835444G>CCA401092314UNC13Dc.748C>G (p.Leu250Val)
c.1813C>G (p.Leu605Val)
c.541C>G (p.Leu181Val)
n.2083C>G
c.1810C>G (p.Leu604Val)
c.1204C>G (p.Leu402Val)
 dbSNP gnomAD v2 gnomAD v4
17g.75835444G=CA2275706492UNC13Dc.748C= (p.Leu250=)
c.1813C= (p.Leu605=)
c.541C= (p.Leu181=)
n.2083C=
c.1810C= (p.Leu604=)
c.1204C= (p.Leu402=)
17g.75835444G>TCA401092317UNC13Dc.748C>A (p.Leu250Met)
c.1813C>A (p.Leu605Met)
c.541C>A (p.Leu181Met)
n.2083C>A
c.1810C>A (p.Leu604Met)
c.1204C>A (p.Leu402Met)
17g.75835446delCA2639895727UNC13Dc.748del (p.Leu250TrpfsTer30)
c.1813del (p.Leu605TrpfsTer19)
c.541del (p.Leu181TrpfsTer?)
n.2083del
c.1810del (p.Leu604TrpfsTer19)
c.1204del (p.Leu402TrpfsTer19)
 gnomAD v4
17g.75835445G>ACA502049695UNC13Dc.747C>T (p.Ala249=)
c.1812C>T (p.Ala604=)
c.540C>T (p.Ala180=)
n.2082C>T
c.1809C>T (p.Ala603=)
c.1203C>T (p.Ala401=)
17g.75835445G>CCA502049697UNC13Dc.747C>G (p.Ala249=)
c.1812C>G (p.Ala604=)
c.540C>G (p.Ala180=)
n.2082C>G
c.1809C>G (p.Ala603=)
c.1203C>G (p.Ala401=)
17g.75835445G>TCA502049692UNC13Dc.747C>A (p.Ala249=)
c.1812C>A (p.Ala604=)
c.540C>A (p.Ala180=)
n.2082C>A
c.1809C>A (p.Ala603=)
c.1203C>A (p.Ala401=)
17g.75835446G>ACA401092319UNC13Dc.746C>T (p.Ala249Val)
c.1811C>T (p.Ala604Val)
c.539C>T (p.Ala180Val)
n.2081C>T
c.1808C>T (p.Ala603Val)
c.1202C>T (p.Ala401Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.75835446G>CCA401092321UNC13Dc.746C>G (p.Ala249Gly)
c.1811C>G (p.Ala604Gly)
c.539C>G (p.Ala180Gly)
n.2081C>G
c.1808C>G (p.Ala603Gly)
c.1202C>G (p.Ala401Gly)
17g.75835446G=CA2275706494UNC13Dc.746C= (p.Ala249=)
c.1811C= (p.Ala604=)
c.539C= (p.Ala180=)
n.2081C=
c.1808C= (p.Ala603=)
c.1202C= (p.Ala401=)
17g.75835446G>TCA401092325UNC13Dc.746C>A (p.Ala249Asp)
c.1811C>A (p.Ala604Asp)
c.539C>A (p.Ala180Asp)
n.2081C>A
c.1808C>A (p.Ala603Asp)
c.1202C>A (p.Ala401Asp)
17g.75835447C>ACA8772801UNC13Dc.745G>T (p.Ala249Ser)
c.1810G>T (p.Ala604Ser)
c.538G>T (p.Ala180Ser)
n.2080G>T
c.1807G>T (p.Ala603Ser)
c.1201G>T (p.Ala401Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75835447C=CA2275706495UNC13Dc.745G= (p.Ala249=)
c.1810G= (p.Ala604=)
c.538G= (p.Ala180=)
n.2080G=
c.1807G= (p.Ala603=)
c.1201G= (p.Ala401=)
17g.75835447C>GCA8772800UNC13Dc.745G>C (p.Ala249Pro)
c.1810G>C (p.Ala604Pro)
c.538G>C (p.Ala180Pro)
n.2080G>C
c.1807G>C (p.Ala603Pro)
c.1201G>C (p.Ala401Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75835447C>TCA401092334UNC13Dc.745G>A (p.Ala249Thr)
c.1810G>A (p.Ala604Thr)
c.538G>A (p.Ala180Thr)
n.2080G>A
c.1807G>A (p.Ala603Thr)
c.1201G>A (p.Ala401Thr)
17g.75835448C>ACA401092339UNC13Dc.744G>T (p.Glu248Asp)
c.1809G>T (p.Glu603Asp)
c.537G>T (p.Glu179Asp)
n.2079G>T
c.1806G>T (p.Glu602Asp)
c.1200G>T (p.Glu400Asp)
17g.75835448C>GCA401092341UNC13Dc.744G>C (p.Glu248Asp)
c.1809G>C (p.Glu603Asp)
c.537G>C (p.Glu179Asp)
n.2079G>C
c.1806G>C (p.Glu602Asp)
c.1200G>C (p.Glu400Asp)
17g.75835448C>TCA502049703UNC13Dc.744G>A (p.Glu248=)
c.1809G>A (p.Glu603=)
c.537G>A (p.Glu179=)
n.2079G>A
c.1806G>A (p.Glu602=)
c.1200G>A (p.Glu400=)
17g.75835449T>ACA401092344UNC13Dc.743A>T (p.Glu248Val)
c.1808A>T (p.Glu603Val)
c.536A>T (p.Glu179Val)
n.2078A>T
c.1805A>T (p.Glu602Val)
c.1199A>T (p.Glu400Val)
17g.75835449T>CCA401092345UNC13Dc.743A>G (p.Glu248Gly)
c.1808A>G (p.Glu603Gly)
c.536A>G (p.Glu179Gly)
n.2078A>G
c.1805A>G (p.Glu602Gly)
c.1199A>G (p.Glu400Gly)
17g.75835449T>GCA401092346UNC13Dc.743A>C (p.Glu248Ala)
c.1808A>C (p.Glu603Ala)
c.536A>C (p.Glu179Ala)
n.2078A>C
c.1805A>C (p.Glu602Ala)
c.1199A>C (p.Glu400Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.75835449T=CA2275706496UNC13Dc.743A= (p.Glu248=)
c.1808A= (p.Glu603=)
c.536A= (p.Glu179=)
n.2078A=
c.1805A= (p.Glu602=)
c.1199A= (p.Glu400=)
17g.75835450_75835453dupCA2639895728UNC13Dc.740_743dup (p.Ala249ArgfsTer14)
c.1805_1808dup (p.Ala604ArgfsTer14)
c.533_536dup (p.Ala180ArgfsTer?)
n.2075_2078dup
c.1802_1805dup (p.Ala603ArgfsTer14)
c.1196_1199dup (p.Ala401ArgfsTer14)
 gnomAD v4
17g.75835450C>ACA8772802UNC13Dc.742G>T (p.Glu248Ter)
c.1807G>T (p.Glu603Ter)
c.535G>T (p.Glu179Ter)
n.2077G>T
c.1804G>T (p.Glu602Ter)
c.1198G>T (p.Glu400Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835450C=CA2275706497UNC13Dc.742G= (p.Glu248=)
c.1807G= (p.Glu603=)
c.535G= (p.Glu179=)
n.2077G=
c.1804G= (p.Glu602=)
c.1198G= (p.Glu400=)
17g.75835450C>GCA401092350UNC13Dc.742G>C (p.Glu248Gln)
c.1807G>C (p.Glu603Gln)
c.535G>C (p.Glu179Gln)
n.2077G>C
c.1804G>C (p.Glu602Gln)
c.1198G>C (p.Glu400Gln)
17g.75835450C>TCA8772803UNC13Dc.742G>A (p.Glu248Lys)
c.1807G>A (p.Glu603Lys)
c.535G>A (p.Glu179Lys)
n.2077G>A
c.1804G>A (p.Glu602Lys)
c.1198G>A (p.Glu400Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835450_75835451dupCA2576393020UNC13Dc.741_742dup (p.Glu248AlafsTer?)
c.1806_1807dup (p.Glu603AlafsTer22)
c.534_535dup (p.Glu179AlafsTer?)
n.2076_2077dup
c.1803_1804dup (p.Glu602AlafsTer22)
c.1197_1198dup (p.Glu400AlafsTer22)
17g.75835451G>ACA8772804UNC13Dc.741C>T (p.Asn247=)
c.1806C>T (p.Asn602=)
c.534C>T (p.Asn178=)
n.2076C>T
c.1803C>T (p.Asn601=)
c.1197C>T (p.Asn399=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.75835451G>CCA401092354UNC13Dc.741C>G (p.Asn247Lys)
c.1806C>G (p.Asn602Lys)
c.534C>G (p.Asn178Lys)
n.2076C>G
c.1803C>G (p.Asn601Lys)
c.1197C>G (p.Asn399Lys)
 dbSNP gnomAD v2 gnomAD v4
17g.75835451G=CA2275706498UNC13Dc.741C= (p.Asn247=)
c.1806C= (p.Asn602=)
c.534C= (p.Asn178=)
n.2076C=
c.1803C= (p.Asn601=)
c.1197C= (p.Asn399=)
17g.75835451G>TCA401092357UNC13Dc.741C>A (p.Asn247Lys)
c.1806C>A (p.Asn602Lys)
c.534C>A (p.Asn178Lys)
n.2076C>A
c.1803C>A (p.Asn601Lys)
c.1197C>A (p.Asn399Lys)
17g.75835451_75835458dupCA2639895729UNC13Dc.734_741dup (p.Glu248ArgfsTer?)
c.1799_1806dup (p.Glu603ArgfsTer24)
c.527_534dup (p.Glu179ArgfsTer?)
n.2069_2076dup
c.1796_1803dup (p.Glu602ArgfsTer24)
c.1190_1197dup (p.Glu400ArgfsTer24)
 gnomAD v4
17g.75835452T>ACA401092358UNC13Dc.740A>T (p.Asn247Ile)
c.1805A>T (p.Asn602Ile)
c.533A>T (p.Asn178Ile)
n.2075A>T
c.1802A>T (p.Asn601Ile)
c.1196A>T (p.Asn399Ile)
17g.75835452T>CCA401092359UNC13Dc.740A>G (p.Asn247Ser)
c.1805A>G (p.Asn602Ser)
c.533A>G (p.Asn178Ser)
n.2075A>G
c.1802A>G (p.Asn601Ser)
c.1196A>G (p.Asn399Ser)
17g.75835452T>GCA401092360UNC13Dc.740A>C (p.Asn247Thr)
c.1805A>C (p.Asn602Thr)
c.533A>C (p.Asn178Thr)
n.2075A>C
c.1802A>C (p.Asn601Thr)
c.1196A>C (p.Asn399Thr)
17g.75835453T>ACA401092364UNC13Dc.739A>T (p.Asn247Tyr)
c.1804A>T (p.Asn602Tyr)
c.532A>T (p.Asn178Tyr)
n.2074A>T
c.1801A>T (p.Asn601Tyr)
c.1195A>T (p.Asn399Tyr)
17g.75835453T>CCA401092381UNC13Dc.739A>G (p.Asn247Asp)
c.1804A>G (p.Asn602Asp)
c.532A>G (p.Asn178Asp)
n.2074A>G
c.1801A>G (p.Asn601Asp)
c.1195A>G (p.Asn399Asp)
 gnomAD v4
17g.75835453T>GCA8772805UNC13Dc.739A>C (p.Asn247His)
c.1804A>C (p.Asn602His)
c.532A>C (p.Asn178His)
n.2074A>C
c.1801A>C (p.Asn601His)
c.1195A>C (p.Asn399His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835453T=CA2275706499UNC13Dc.739A= (p.Asn247=)
c.1804A= (p.Asn602=)
c.532A= (p.Asn178=)
n.2074A=
c.1801A= (p.Asn601=)
c.1195A= (p.Asn399=)
17g.75835454G>ACA502049708UNC13Dc.738C>T (p.Tyr246=)
c.1803C>T (p.Tyr601=)
c.531C>T (p.Tyr177=)
n.2073C>T
c.1800C>T (p.Tyr600=)
c.1194C>T (p.Tyr398=)
17g.75835454G>CCA401092389UNC13Dc.738C>G (p.Tyr246Ter)
c.1803C>G (p.Tyr601Ter)
c.531C>G (p.Tyr177Ter)
n.2073C>G
c.1800C>G (p.Tyr600Ter)
c.1194C>G (p.Tyr398Ter)
17g.75835454G>TCA401092393UNC13Dc.738C>A (p.Tyr246Ter)
c.1803C>A (p.Tyr601Ter)
c.531C>A (p.Tyr177Ter)
n.2073C>A
c.1800C>A (p.Tyr600Ter)
c.1194C>A (p.Tyr398Ter)
17g.75835454_75835460delCA2695226983UNC13Dc.732_738del (p.Tyr246ArgfsTer?)
c.1797_1803del (p.Tyr601ArgfsTer21)
c.525_531del (p.Tyr177ArgfsTer?)
n.2067_2073del
c.1794_1800del (p.Tyr600ArgfsTer21)
c.1188_1194del (p.Tyr398ArgfsTer21)
17g.75835455T>ACA401092400UNC13Dc.737A>T (p.Tyr246Phe)
c.1802A>T (p.Tyr601Phe)
c.530A>T (p.Tyr177Phe)
n.2072A>T
c.1799A>T (p.Tyr600Phe)
c.1193A>T (p.Tyr398Phe)
17g.75835455T>CCA8772806UNC13Dc.737A>G (p.Tyr246Cys)
c.1802A>G (p.Tyr601Cys)
c.530A>G (p.Tyr177Cys)
n.2072A>G
c.1799A>G (p.Tyr600Cys)
c.1193A>G (p.Tyr398Cys)
 dbSNP ExAC gnomAD v3 gnomAD v4
17g.75835455T>GCA401092407UNC13Dc.737A>C (p.Tyr246Ser)
c.1802A>C (p.Tyr601Ser)
c.530A>C (p.Tyr177Ser)
n.2072A>C
c.1799A>C (p.Tyr600Ser)
c.1193A>C (p.Tyr398Ser)
17g.75835455T=CA2275706500UNC13Dc.737A= (p.Tyr246=)
c.1802A= (p.Tyr601=)
c.530A= (p.Tyr177=)
n.2072A=
c.1799A= (p.Tyr600=)
c.1193A= (p.Tyr398=)
17g.75835456A>CCA401092416UNC13Dc.736T>G (p.Tyr246Asp)
c.1801T>G (p.Tyr601Asp)
c.529T>G (p.Tyr177Asp)
n.2071T>G
c.1798T>G (p.Tyr600Asp)
c.1192T>G (p.Tyr398Asp)
17g.75835456A>GCA401092413UNC13Dc.736T>C (p.Tyr246His)
c.1801T>C (p.Tyr601His)
c.529T>C (p.Tyr177His)
n.2071T>C
c.1798T>C (p.Tyr600His)
c.1192T>C (p.Tyr398His)
17g.75835456A>TCA401092411UNC13Dc.736T>A (p.Tyr246Asn)
c.1801T>A (p.Tyr601Asn)
c.529T>A (p.Tyr177Asn)
n.2071T>A
c.1798T>A (p.Tyr600Asn)
c.1192T>A (p.Tyr398Asn)
17g.75835457C>ACA502049712UNC13Dc.735G>T (p.Thr245=)
c.1800G>T (p.Thr600=)
c.528G>T (p.Thr176=)
n.2070G>T
c.1797G>T (p.Thr599=)
c.1191G>T (p.Thr397=)
17g.75835457C=CA2275706501UNC13Dc.735G= (p.Thr245=)
c.1800G= (p.Thr600=)
c.528G= (p.Thr176=)
n.2070G=
c.1797G= (p.Thr599=)
c.1191G= (p.Thr397=)
17g.75835457C>GCA502049714UNC13Dc.735G>C (p.Thr245=)
c.1800G>C (p.Thr600=)
c.528G>C (p.Thr176=)
n.2070G>C
c.1797G>C (p.Thr599=)
c.1191G>C (p.Thr397=)
 dbSNP gnomAD v2
17g.75835457C>TCA8772807UNC13Dc.735G>A (p.Thr245=)
c.1800G>A (p.Thr600=)
c.528G>A (p.Thr176=)
n.2070G>A
c.1797G>A (p.Thr599=)
c.1191G>A (p.Thr397=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835458G>ACA8772808UNC13Dc.734C>T (p.Thr245Met)
c.1799C>T (p.Thr600Met)
c.527C>T (p.Thr176Met)
n.2069C>T
c.1796C>T (p.Thr599Met)
c.1190C>T (p.Thr397Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835458G>CCA401092419UNC13Dc.734C>G (p.Thr245Arg)
c.1799C>G (p.Thr600Arg)
c.527C>G (p.Thr176Arg)
n.2069C>G
c.1796C>G (p.Thr599Arg)
c.1190C>G (p.Thr397Arg)
17g.75835458G=CA2275706502UNC13Dc.734C= (p.Thr245=)
c.1799C= (p.Thr600=)
c.527C= (p.Thr176=)
n.2069C=
c.1796C= (p.Thr599=)
c.1190C= (p.Thr397=)
17g.75835458G>TCA401092422UNC13Dc.734C>A (p.Thr245Lys)
c.1799C>A (p.Thr600Lys)
c.527C>A (p.Thr176Lys)
n.2069C>A
c.1796C>A (p.Thr599Lys)
c.1190C>A (p.Thr397Lys)
17g.75835459T>ACA401092429UNC13Dc.733A>T (p.Thr245Ser)
c.1798A>T (p.Thr600Ser)
c.526A>T (p.Thr176Ser)
n.2068A>T
c.1795A>T (p.Thr599Ser)
c.1189A>T (p.Thr397Ser)
17g.75835459T>CCA401092432UNC13Dc.733A>G (p.Thr245Ala)
c.1798A>G (p.Thr600Ala)
c.526A>G (p.Thr176Ala)
n.2068A>G
c.1795A>G (p.Thr599Ala)
c.1189A>G (p.Thr397Ala)
17g.75835459T>GCA401092441UNC13Dc.733A>C (p.Thr245Pro)
c.1798A>C (p.Thr600Pro)
c.526A>C (p.Thr176Pro)
n.2068A>C
c.1795A>C (p.Thr599Pro)
c.1189A>C (p.Thr397Pro)
17g.75835460C>ACA401092459UNC13Dc.732G>T (p.Lys244Asn)
c.1797G>T (p.Lys599Asn)
c.525G>T (p.Lys175Asn)
n.2067G>T
c.1794G>T (p.Lys598Asn)
c.1188G>T (p.Lys396Asn)
17g.75835460C=CA2275706503UNC13Dc.732G= (p.Lys244=)
c.1797G= (p.Lys599=)
c.525G= (p.Lys175=)
n.2067G=
c.1794G= (p.Lys598=)
c.1188G= (p.Lys396=)
17g.75835460C>GCA401092461UNC13Dc.732G>C (p.Lys244Asn)
c.1797G>C (p.Lys599Asn)
c.525G>C (p.Lys175Asn)
n.2067G>C
c.1794G>C (p.Lys598Asn)
c.1188G>C (p.Lys396Asn)
17g.75835460C>TCA502049716UNC13Dc.732G>A (p.Lys244=)
c.1797G>A (p.Lys599=)
c.525G>A (p.Lys175=)
n.2067G>A
c.1794G>A (p.Lys598=)
c.1188G>A (p.Lys396=)
 dbSNP
17g.75835461T>ACA401092466UNC13Dc.731A>T (p.Lys244Met)
c.1796A>T (p.Lys599Met)
c.524A>T (p.Lys175Met)
n.2066A>T
c.1793A>T (p.Lys598Met)
c.1187A>T (p.Lys396Met)
17g.75835461T>CCA401092470UNC13Dc.731A>G (p.Lys244Arg)
c.1796A>G (p.Lys599Arg)
c.524A>G (p.Lys175Arg)
n.2066A>G
c.1793A>G (p.Lys598Arg)
c.1187A>G (p.Lys396Arg)
 dbSNP
17g.75835461T>GCA401092473UNC13Dc.731A>C (p.Lys244Thr)
c.1796A>C (p.Lys599Thr)
c.524A>C (p.Lys175Thr)
n.2066A>C
c.1793A>C (p.Lys598Thr)
c.1187A>C (p.Lys396Thr)
17g.75835461T=CA2275706504UNC13Dc.731A= (p.Lys244=)
c.1796A= (p.Lys599=)
c.524A= (p.Lys175=)
n.2066A=
c.1793A= (p.Lys598=)
c.1187A= (p.Lys396=)
17g.75835462T>ACA401092484UNC13Dc.730A>T (p.Lys244Ter)
c.1795A>T (p.Lys599Ter)
c.523A>T (p.Lys175Ter)
n.2065A>T
c.1792A>T (p.Lys598Ter)
c.1186A>T (p.Lys396Ter)
17g.75835462T>CCA401092487UNC13Dc.730A>G (p.Lys244Glu)
c.1795A>G (p.Lys599Glu)
c.523A>G (p.Lys175Glu)
n.2065A>G
c.1792A>G (p.Lys598Glu)
c.1186A>G (p.Lys396Glu)
17g.75835462T>GCA401092478UNC13Dc.730A>C (p.Lys244Gln)
c.1795A>C (p.Lys599Gln)
c.523A>C (p.Lys175Gln)
n.2065A>C
c.1792A>C (p.Lys598Gln)
c.1186A>C (p.Lys396Gln)
17g.75835463C>ACA401092493UNC13Dc.729G>T (p.Gln243His)
c.1794G>T (p.Gln598His)
c.522G>T (p.Gln174His)
n.2064G>T
c.1791G>T (p.Gln597His)
c.1185G>T (p.Gln395His)
 dbSNP gnomAD v2 gnomAD v4
17g.75835463C=CA2275706505UNC13Dc.729G= (p.Gln243=)
c.1794G= (p.Gln598=)
c.522G= (p.Gln174=)
n.2064G=
c.1791G= (p.Gln597=)
c.1185G= (p.Gln395=)
17g.75835463C>GCA401092500UNC13Dc.729G>C (p.Gln243His)
c.1794G>C (p.Gln598His)
c.522G>C (p.Gln174His)
n.2064G>C
c.1791G>C (p.Gln597His)
c.1185G>C (p.Gln395His)
17g.75835463C>TCA502049717UNC13Dc.729G>A (p.Gln243=)
c.1794G>A (p.Gln598=)
c.522G>A (p.Gln174=)
n.2064G>A
c.1791G>A (p.Gln597=)
c.1185G>A (p.Gln395=)
17g.75835464T>ACA401092503UNC13Dc.728A>T (p.Gln243Leu)
c.1793A>T (p.Gln598Leu)
c.521A>T (p.Gln174Leu)
n.2063A>T
c.1790A>T (p.Gln597Leu)
c.1184A>T (p.Gln395Leu)
17g.75835464T>CCA401092508UNC13Dc.728A>G (p.Gln243Arg)
c.1793A>G (p.Gln598Arg)
c.521A>G (p.Gln174Arg)
n.2063A>G
c.1790A>G (p.Gln597Arg)
c.1184A>G (p.Gln395Arg)
17g.75835464T>GCA401092512UNC13Dc.728A>C (p.Gln243Pro)
c.1793A>C (p.Gln598Pro)
c.521A>C (p.Gln174Pro)
n.2063A>C
c.1790A>C (p.Gln597Pro)
c.1184A>C (p.Gln395Pro)
17g.75835465G>ACA401092518UNC13Dc.727C>T (p.Gln243Ter)
c.1792C>T (p.Gln598Ter)
c.520C>T (p.Gln174Ter)
n.2062C>T
c.1789C>T (p.Gln597Ter)
c.1183C>T (p.Gln395Ter)
 ClinVar dbSNP gnomAD v2
17g.75835465G>CCA401092517UNC13Dc.727C>G (p.Gln243Glu)
c.1792C>G (p.Gln598Glu)
c.520C>G (p.Gln174Glu)
n.2062C>G
c.1789C>G (p.Gln597Glu)
c.1183C>G (p.Gln395Glu)
17g.75835465G=CA2275706506UNC13Dc.727C= (p.Gln243=)
c.1792C= (p.Gln598=)
c.520C= (p.Gln174=)
n.2062C=
c.1789C= (p.Gln597=)
c.1183C= (p.Gln395=)
17g.75835465G>TCA401092516UNC13Dc.727C>A (p.Gln243Lys)
c.1792C>A (p.Gln598Lys)
c.520C>A (p.Gln174Lys)
n.2062C>A
c.1789C>A (p.Gln597Lys)
c.1183C>A (p.Gln395Lys)
17g.75835466C>ACA502049722UNC13Dc.726G>T (p.Leu242=)
c.1791G>T (p.Leu597=)
c.519G>T (p.Leu173=)
n.2061G>T
c.1788G>T (p.Leu596=)
c.1182G>T (p.Leu394=)
17g.75835466C=CA2275706507UNC13Dc.726G= (p.Leu242=)
c.1791G= (p.Leu597=)
c.519G= (p.Leu173=)
n.2061G=
c.1788G= (p.Leu596=)
c.1182G= (p.Leu394=)
17g.75835466C>GCA294086715UNC13Dc.726G>C (p.Leu242=)
c.1791G>C (p.Leu597=)
c.519G>C (p.Leu173=)
n.2061G>C
c.1788G>C (p.Leu596=)
c.1182G>C (p.Leu394=)
 dbSNP
17g.75835466C>TCA502049723UNC13Dc.726G>A (p.Leu242=)
c.1791G>A (p.Leu597=)
c.519G>A (p.Leu173=)
n.2061G>A
c.1788G>A (p.Leu596=)
c.1182G>A (p.Leu394=)
 ClinVar gnomAD v4
17g.75835467A>CCA401092523UNC13Dc.725T>G (p.Leu242Arg)
c.1790T>G (p.Leu597Arg)
c.518T>G (p.Leu173Arg)
n.2060T>G
c.1787T>G (p.Leu596Arg)
c.1181T>G (p.Leu394Arg)
17g.75835467A>GCA401092525UNC13Dc.725T>C (p.Leu242Pro)
c.1790T>C (p.Leu597Pro)
c.518T>C (p.Leu173Pro)
n.2060T>C
c.1787T>C (p.Leu596Pro)
c.1181T>C (p.Leu394Pro)
17g.75835467A>TCA401092527UNC13Dc.725T>A (p.Leu242Gln)
c.1790T>A (p.Leu597Gln)
c.518T>A (p.Leu173Gln)
n.2060T>A
c.1787T>A (p.Leu596Gln)
c.1181T>A (p.Leu394Gln)
17g.75835468G>ACA8772809UNC13Dc.724C>T (p.Leu242=)
c.1789C>T (p.Leu597=)
c.517C>T (p.Leu173=)
n.2059C>T
c.1786C>T (p.Leu596=)
c.1180C>T (p.Leu394=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75835468G>CCA401092537UNC13Dc.724C>G (p.Leu242Val)
c.1789C>G (p.Leu597Val)
c.517C>G (p.Leu173Val)
n.2059C>G
c.1786C>G (p.Leu596Val)
c.1180C>G (p.Leu394Val)
17g.75835468G=CA2275706508UNC13Dc.724C= (p.Leu242=)
c.1789C= (p.Leu597=)
c.517C= (p.Leu173=)
n.2059C=
c.1786C= (p.Leu596=)
c.1180C= (p.Leu394=)
17g.75835468G>TCA401092540UNC13Dc.724C>A (p.Leu242Met)
c.1789C>A (p.Leu597Met)
c.517C>A (p.Leu173Met)
n.2059C>A
c.1786C>A (p.Leu596Met)
c.1180C>A (p.Leu394Met)
17g.75835469C>ACA401092546UNC13Dc.723G>T (p.Trp241Cys)
c.1788G>T (p.Trp596Cys)
c.516G>T (p.Trp172Cys)
n.2058G>T
c.1785G>T (p.Trp595Cys)
c.1179G>T (p.Trp393Cys)
17g.75835469C>GCA401092555UNC13Dc.723G>C (p.Trp241Cys)
c.1788G>C (p.Trp596Cys)
c.516G>C (p.Trp172Cys)
n.2058G>C
c.1785G>C (p.Trp595Cys)
c.1179G>C (p.Trp393Cys)
17g.75835469C>TCA401092550UNC13Dc.723G>A (p.Trp241Ter)
c.1788G>A (p.Trp596Ter)
c.516G>A (p.Trp172Ter)
n.2058G>A
c.1785G>A (p.Trp595Ter)
c.1179G>A (p.Trp393Ter)
17g.75835470C>ACA401092560UNC13Dc.722G>T (p.Trp241Leu)
c.1787G>T (p.Trp596Leu)
c.515G>T (p.Trp172Leu)
n.2057G>T
c.1784G>T (p.Trp595Leu)
c.1178G>T (p.Trp393Leu)
17g.75835470C=CA2275706509UNC13Dc.722G= (p.Trp241=)
c.1787G= (p.Trp596=)
c.515G= (p.Trp172=)
n.2057G=
c.1784G= (p.Trp595=)
c.1178G= (p.Trp393=)
17g.75835470C>GCA401092566UNC13Dc.722G>C (p.Trp241Ser)
c.1787G>C (p.Trp596Ser)
c.515G>C (p.Trp172Ser)
n.2057G>C
c.1784G>C (p.Trp595Ser)
c.1178G>C (p.Trp393Ser)
17g.75835470C>TCA401092571UNC13Dc.722G>A (p.Trp241Ter)
c.1787G>A (p.Trp596Ter)
c.515G>A (p.Trp172Ter)
n.2057G>A
c.1784G>A (p.Trp595Ter)
c.1178G>A (p.Trp393Ter)
 dbSNP gnomAD v2 gnomAD v4
17g.75835471A>CCA401092575UNC13Dc.721T>G (p.Trp241Gly)
c.1786T>G (p.Trp596Gly)
c.514T>G (p.Trp172Gly)
n.2056T>G
c.1783T>G (p.Trp595Gly)
c.1177T>G (p.Trp393Gly)
17g.75835471A>GCA401092579UNC13Dc.721T>C (p.Trp241Arg)
c.1786T>C (p.Trp596Arg)
c.514T>C (p.Trp172Arg)
n.2056T>C
c.1783T>C (p.Trp595Arg)
c.1177T>C (p.Trp393Arg)
17g.75835471A>TCA401092584UNC13Dc.721T>A (p.Trp241Arg)
c.1786T>A (p.Trp596Arg)
c.514T>A (p.Trp172Arg)
n.2056T>A
c.1783T>A (p.Trp595Arg)
c.1177T>A (p.Trp393Arg)
17g.75835472G>ACA502049733UNC13Dc.720C>T (p.Ser240=)
c.1785C>T (p.Ser595=)
c.513C>T (p.Ser171=)
n.2055C>T
c.1782C>T (p.Ser594=)
c.1176C>T (p.Ser392=)
17g.75835472G>CCA502049731UNC13Dc.720C>G (p.Ser240=)
c.1785C>G (p.Ser595=)
c.513C>G (p.Ser171=)
n.2055C>G
c.1782C>G (p.Ser594=)
c.1176C>G (p.Ser392=)
17g.75835472G>TCA502049732UNC13Dc.720C>A (p.Ser240=)
c.1785C>A (p.Ser595=)
c.513C>A (p.Ser171=)
n.2055C>A
c.1782C>A (p.Ser594=)
c.1176C>A (p.Ser392=)
17g.75835473G>ACA8772810UNC13Dc.719C>T (p.Ser240Phe)
c.1784C>T (p.Ser595Phe)
c.512C>T (p.Ser171Phe)
n.2054C>T
c.1781C>T (p.Ser594Phe)
c.1175C>T (p.Ser392Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835473G>CCA401092602UNC13Dc.719C>G (p.Ser240Cys)
c.1784C>G (p.Ser595Cys)
c.512C>G (p.Ser171Cys)
n.2054C>G
c.1781C>G (p.Ser594Cys)
c.1175C>G (p.Ser392Cys)
17g.75835473G=CA2275706510UNC13Dc.719C= (p.Ser240=)
c.1784C= (p.Ser595=)
c.512C= (p.Ser171=)
n.2054C=
c.1781C= (p.Ser594=)
c.1175C= (p.Ser392=)
17g.75835473G>TCA401092606UNC13Dc.719C>A (p.Ser240Tyr)
c.1784C>A (p.Ser595Tyr)
c.512C>A (p.Ser171Tyr)
n.2054C>A
c.1781C>A (p.Ser594Tyr)
c.1175C>A (p.Ser392Tyr)
 gnomAD v4
17g.75835474A>CCA401092611UNC13Dc.718T>G (p.Ser240Ala)
c.1783T>G (p.Ser595Ala)
c.511T>G (p.Ser171Ala)
n.2053T>G
c.1780T>G (p.Ser594Ala)
c.1174T>G (p.Ser392Ala)
17g.75835474A>GCA401092624UNC13Dc.718T>C (p.Ser240Pro)
c.1783T>C (p.Ser595Pro)
c.511T>C (p.Ser171Pro)
n.2053T>C
c.1780T>C (p.Ser594Pro)
c.1174T>C (p.Ser392Pro)
17g.75835474A>TCA401092627UNC13Dc.718T>A (p.Ser240Thr)
c.1783T>A (p.Ser595Thr)
c.511T>A (p.Ser171Thr)
n.2053T>A
c.1780T>A (p.Ser594Thr)
c.1174T>A (p.Ser392Thr)
17g.75835475G>ACA502049736UNC13Dc.717C>T (p.Pro239=)
c.1782C>T (p.Pro594=)
c.510C>T (p.Pro170=)
n.2052C>T
c.1779C>T (p.Pro593=)
c.1173C>T (p.Pro391=)
17g.75835475G>CCA8772811UNC13Dc.717C>G (p.Pro239=)
c.1782C>G (p.Pro594=)
c.510C>G (p.Pro170=)
n.2052C>G
c.1779C>G (p.Pro593=)
c.1173C>G (p.Pro391=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835475G=CA2275706511UNC13Dc.717C= (p.Pro239=)
c.1782C= (p.Pro594=)
c.510C= (p.Pro170=)
n.2052C=
c.1779C= (p.Pro593=)
c.1173C= (p.Pro391=)
17g.75835475G>TCA502049737UNC13Dc.717C>A (p.Pro239=)
c.1782C>A (p.Pro594=)
c.510C>A (p.Pro170=)
n.2052C>A
c.1779C>A (p.Pro593=)
c.1173C>A (p.Pro391=)
 ClinVar dbSNP gnomAD v2
17g.75835476G>ACA401092638UNC13Dc.716C>T (p.Pro239Leu)
c.1781C>T (p.Pro594Leu)
c.509C>T (p.Pro170Leu)
n.2051C>T
c.1778C>T (p.Pro593Leu)
c.1172C>T (p.Pro391Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.75835476G>CCA401092636UNC13Dc.716C>G (p.Pro239Arg)
c.1781C>G (p.Pro594Arg)
c.509C>G (p.Pro170Arg)
n.2051C>G
c.1778C>G (p.Pro593Arg)
c.1172C>G (p.Pro391Arg)
17g.75835476G=CA2275706512UNC13Dc.716C= (p.Pro239=)
c.1781C= (p.Pro594=)
c.509C= (p.Pro170=)
n.2051C=
c.1778C= (p.Pro593=)
c.1172C= (p.Pro391=)
17g.75835476G>TCA401092642UNC13Dc.716C>A (p.Pro239His)
c.1781C>A (p.Pro594His)
c.509C>A (p.Pro170His)
n.2051C>A
c.1778C>A (p.Pro593His)
c.1172C>A (p.Pro391His)
17g.75835477G>ACA401092653UNC13Dc.715C>T (p.Pro239Ser)
c.1780C>T (p.Pro594Ser)
c.508C>T (p.Pro170Ser)
n.2050C>T
c.1777C>T (p.Pro593Ser)
c.1171C>T (p.Pro391Ser)
17g.75835477G>CCA401092657UNC13Dc.715C>G (p.Pro239Ala)
c.1780C>G (p.Pro594Ala)
c.508C>G (p.Pro170Ala)
n.2050C>G
c.1777C>G (p.Pro593Ala)
c.1171C>G (p.Pro391Ala)
 dbSNP
17g.75835477G=CA2275706513UNC13Dc.715C= (p.Pro239=)
c.1780C= (p.Pro594=)
c.508C= (p.Pro170=)
n.2050C=
c.1777C= (p.Pro593=)
c.1171C= (p.Pro391=)
17g.75835477G>TCA401092662UNC13Dc.715C>A (p.Pro239Thr)
c.1780C>A (p.Pro594Thr)
c.508C>A (p.Pro170Thr)
n.2050C>A
c.1777C>A (p.Pro593Thr)
c.1171C>A (p.Pro391Thr)
17g.75835478G>ACA294086720UNC13Dc.714C>T (p.Ile238=)
c.1779C>T (p.Ile593=)
c.507C>T (p.Ile169=)
n.2049C>T
c.1776C>T (p.Ile592=)
c.1170C>T (p.Ile390=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.75835478G>CCA401092672UNC13Dc.714C>G (p.Ile238Met)
c.1779C>G (p.Ile593Met)
c.507C>G (p.Ile169Met)
n.2049C>G
c.1776C>G (p.Ile592Met)
c.1170C>G (p.Ile390Met)
 gnomAD v4
17g.75835478G=CA2275706514UNC13Dc.714C= (p.Ile238=)
c.1779C= (p.Ile593=)
c.507C= (p.Ile169=)
n.2049C=
c.1776C= (p.Ile592=)
c.1170C= (p.Ile390=)
17g.75835478G>TCA502049746UNC13Dc.714C>A (p.Ile238=)
c.1779C>A (p.Ile593=)
c.507C>A (p.Ile169=)
n.2049C>A
c.1776C>A (p.Ile592=)
c.1170C>A (p.Ile390=)
17g.75835479A=CA2275706515UNC13Dc.713T= (p.Ile238=)
c.1778T= (p.Ile593=)
c.506T= (p.Ile169=)
n.2048T=
c.1775T= (p.Ile592=)
c.1169T= (p.Ile390=)
17g.75835479A>CCA401092683UNC13Dc.713T>G (p.Ile238Ser)
c.1778T>G (p.Ile593Ser)
c.506T>G (p.Ile169Ser)
n.2048T>G
c.1775T>G (p.Ile592Ser)
c.1169T>G (p.Ile390Ser)
17g.75835479A>GCA401092680UNC13Dc.713T>C (p.Ile238Thr)
c.1778T>C (p.Ile593Thr)
c.506T>C (p.Ile169Thr)
n.2048T>C
c.1775T>C (p.Ile592Thr)
c.1169T>C (p.Ile390Thr)
 ClinVar dbSNP
17g.75835479A>TCA401092677UNC13Dc.713T>A (p.Ile238Asn)
c.1778T>A (p.Ile593Asn)
c.506T>A (p.Ile169Asn)
n.2048T>A
c.1775T>A (p.Ile592Asn)
c.1169T>A (p.Ile390Asn)
 gnomAD v4
17g.75835480T>ACA401092690UNC13Dc.712A>T (p.Ile238Phe)
c.1777A>T (p.Ile593Phe)
c.505A>T (p.Ile169Phe)
n.2047A>T
c.1774A>T (p.Ile592Phe)
c.1168A>T (p.Ile390Phe)
17g.75835480T>CCA8772812UNC13Dc.712A>G (p.Ile238Val)
c.1777A>G (p.Ile593Val)
c.505A>G (p.Ile169Val)
n.2047A>G
c.1774A>G (p.Ile592Val)
c.1168A>G (p.Ile390Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835480T>GCA401092695UNC13Dc.712A>C (p.Ile238Leu)
c.1777A>C (p.Ile593Leu)
c.505A>C (p.Ile169Leu)
n.2047A>C
c.1774A>C (p.Ile592Leu)
c.1168A>C (p.Ile390Leu)
17g.75835480T=CA2275706516UNC13Dc.712A= (p.Ile238=)
c.1777A= (p.Ile593=)
c.505A= (p.Ile169=)
n.2047A=
c.1774A= (p.Ile592=)
c.1168A= (p.Ile390=)
17g.75835481G>ACA502049752UNC13Dc.711C>T (p.Ala237=)
c.1776C>T (p.Ala592=)
c.504C>T (p.Ala168=)
n.2046C>T
c.1773C>T (p.Ala591=)
c.1167C>T (p.Ala389=)
 dbSNP gnomAD v2 gnomAD v4
17g.75835481G>CCA502049753UNC13Dc.711C>G (p.Ala237=)
c.1776C>G (p.Ala592=)
c.504C>G (p.Ala168=)
n.2046C>G
c.1773C>G (p.Ala591=)
c.1167C>G (p.Ala389=)
17g.75835481G=CA2275706517UNC13Dc.711C= (p.Ala237=)
c.1776C= (p.Ala592=)
c.504C= (p.Ala168=)
n.2046C=
c.1773C= (p.Ala591=)
c.1167C= (p.Ala389=)
17g.75835481G>TCA502049754UNC13Dc.711C>A (p.Ala237=)
c.1776C>A (p.Ala592=)
c.504C>A (p.Ala168=)
n.2046C>A
c.1773C>A (p.Ala591=)
c.1167C>A (p.Ala389=)
17g.75835482G>ACA401092700UNC13Dc.710C>T (p.Ala237Val)
c.1775C>T (p.Ala592Val)
c.503C>T (p.Ala168Val)
n.2045C>T
c.1772C>T (p.Ala591Val)
c.1166C>T (p.Ala389Val)
 dbSNP gnomAD v2 gnomAD v4
17g.75835482G>CCA401092703UNC13Dc.710C>G (p.Ala237Gly)
c.1775C>G (p.Ala592Gly)
c.503C>G (p.Ala168Gly)
n.2045C>G
c.1772C>G (p.Ala591Gly)
c.1166C>G (p.Ala389Gly)
17g.75835482G=CA2275706518UNC13Dc.710C= (p.Ala237=)
c.1775C= (p.Ala592=)
c.503C= (p.Ala168=)
n.2045C=
c.1772C= (p.Ala591=)
c.1166C= (p.Ala389=)
17g.75835482G>TCA401092708UNC13Dc.710C>A (p.Ala237Asp)
c.1775C>A (p.Ala592Asp)
c.503C>A (p.Ala168Asp)
n.2045C>A
c.1772C>A (p.Ala591Asp)
c.1166C>A (p.Ala389Asp)
17g.75835483C>ACA401092710UNC13Dc.709G>T (p.Ala237Ser)
c.1774G>T (p.Ala592Ser)
c.502G>T (p.Ala168Ser)
n.2044G>T
c.1771G>T (p.Ala591Ser)
c.1165G>T (p.Ala389Ser)
 gnomAD v4
17g.75835483C=CA2275706519UNC13Dc.709G= (p.Ala237=)
c.1774G= (p.Ala592=)
c.502G= (p.Ala168=)
n.2044G=
c.1771G= (p.Ala591=)
c.1165G= (p.Ala389=)
17g.75835483C>GCA401092716UNC13Dc.709G>C (p.Ala237Pro)
c.1774G>C (p.Ala592Pro)
c.502G>C (p.Ala168Pro)
n.2044G>C
c.1771G>C (p.Ala591Pro)
c.1165G>C (p.Ala389Pro)
17g.75835483C>TCA401092713UNC13Dc.709G>A (p.Ala237Thr)
c.1774G>A (p.Ala592Thr)
c.502G>A (p.Ala168Thr)
n.2044G>A
c.1771G>A (p.Ala591Thr)
c.1165G>A (p.Ala389Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.75835484C>ACA8772813UNC13Dc.708G>T (p.Pro236=)
c.1773G>T (p.Pro591=)
c.501G>T (p.Pro167=)
n.2043G>T
c.1770G>T (p.Pro590=)
c.1164G>T (p.Pro388=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835484C=CA2275706520UNC13Dc.708G= (p.Pro236=)
c.1773G= (p.Pro591=)
c.501G= (p.Pro167=)
n.2043G=
c.1770G= (p.Pro590=)
c.1164G= (p.Pro388=)
17g.75835484C>GCA502049630UNC13Dc.708G>C (p.Pro236=)
c.1773G>C (p.Pro591=)
c.501G>C (p.Pro167=)
n.2043G>C
c.1770G>C (p.Pro590=)
c.1164G>C (p.Pro388=)
17g.75835484C>TCA8772814UNC13Dc.708G>A (p.Pro236=)
c.1773G>A (p.Pro591=)
c.501G>A (p.Pro167=)
n.2043G>A
c.1770G>A (p.Pro590=)
c.1164G>A (p.Pro388=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835485G>ACA8772815UNC13Dc.707C>T (p.Pro236Leu)
c.1772C>T (p.Pro591Leu)
c.500C>T (p.Pro167Leu)
n.2042C>T
c.1769C>T (p.Pro590Leu)
c.1163C>T (p.Pro388Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835485G>CCA401092730UNC13Dc.707C>G (p.Pro236Arg)
c.1772C>G (p.Pro591Arg)
c.500C>G (p.Pro167Arg)
n.2042C>G
c.1769C>G (p.Pro590Arg)
c.1163C>G (p.Pro388Arg)
17g.75835485G=CA2275706521UNC13Dc.707C= (p.Pro236=)
c.1772C= (p.Pro591=)
c.500C= (p.Pro167=)
n.2042C=
c.1769C= (p.Pro590=)
c.1163C= (p.Pro388=)
17g.75835485G>TCA401092733UNC13Dc.707C>A (p.Pro236Gln)
c.1772C>A (p.Pro591Gln)
c.500C>A (p.Pro167Gln)
n.2042C>A
c.1769C>A (p.Pro590Gln)
c.1163C>A (p.Pro388Gln)
 gnomAD v4
17g.75835486G>ACA401092741UNC13Dc.706C>T (p.Pro236Ser)
c.1771C>T (p.Pro591Ser)
c.499C>T (p.Pro167Ser)
n.2041C>T
c.1768C>T (p.Pro590Ser)
c.1162C>T (p.Pro388Ser)
 gnomAD v4 COSMIC
17g.75835486G>CCA401092745UNC13Dc.706C>G (p.Pro236Ala)
c.1771C>G (p.Pro591Ala)
c.499C>G (p.Pro167Ala)
n.2041C>G
c.1768C>G (p.Pro590Ala)
c.1162C>G (p.Pro388Ala)
17g.75835486G>TCA401092749UNC13Dc.706C>A (p.Pro236Thr)
c.1771C>A (p.Pro591Thr)
c.499C>A (p.Pro167Thr)
n.2041C>A
c.1768C>A (p.Pro590Thr)
c.1162C>A (p.Pro388Thr)
17g.75835487C>ACA401092750UNC13Dc.705G>T (p.Gln235His)
c.1770G>T (p.Gln590His)
c.498G>T (p.Gln166His)
n.2040G>T
c.1767G>T (p.Gln589His)
c.1161G>T (p.Gln387His)
17g.75835487C>GCA401092751UNC13Dc.705G>C (p.Gln235His)
c.1770G>C (p.Gln590His)
c.498G>C (p.Gln166His)
n.2040G>C
c.1767G>C (p.Gln589His)
c.1161G>C (p.Gln387His)
17g.75835487C>TCA502049631UNC13Dc.705G>A (p.Gln235=)
c.1770G>A (p.Gln590=)
c.498G>A (p.Gln166=)
n.2040G>A
c.1767G>A (p.Gln589=)
c.1161G>A (p.Gln387=)
17g.75835488T>ACA401092761UNC13Dc.704A>T (p.Gln235Leu)
c.1769A>T (p.Gln590Leu)
c.497A>T (p.Gln166Leu)
n.2039A>T
c.1766A>T (p.Gln589Leu)
c.1160A>T (p.Gln387Leu)
17g.75835488T>CCA401092756UNC13Dc.704A>G (p.Gln235Arg)
c.1769A>G (p.Gln590Arg)
c.497A>G (p.Gln166Arg)
n.2039A>G
c.1766A>G (p.Gln589Arg)
c.1160A>G (p.Gln387Arg)
 gnomAD v4
17g.75835488T>GCA401092754UNC13Dc.704A>C (p.Gln235Pro)
c.1769A>C (p.Gln590Pro)
c.497A>C (p.Gln166Pro)
n.2039A>C
c.1766A>C (p.Gln589Pro)
c.1160A>C (p.Gln387Pro)
17g.75835489G>ACA401092767UNC13Dc.703C>T (p.Gln235Ter)
c.1768C>T (p.Gln590Ter)
c.496C>T (p.Gln166Ter)
n.2038C>T
c.1765C>T (p.Gln589Ter)
c.1159C>T (p.Gln387Ter)
 ClinVar dbSNP gnomAD v4
17g.75835489G>CCA401092770UNC13Dc.703C>G (p.Gln235Glu)
c.1768C>G (p.Gln590Glu)
c.496C>G (p.Gln166Glu)
n.2038C>G
c.1765C>G (p.Gln589Glu)
c.1159C>G (p.Gln387Glu)
17g.75835489G=CA2275706522UNC13Dc.703C= (p.Gln235=)
c.1768C= (p.Gln590=)
c.496C= (p.Gln166=)
n.2038C=
c.1765C= (p.Gln589=)
c.1159C= (p.Gln387=)
17g.75835489G>TCA401092782UNC13Dc.703C>A (p.Gln235Lys)
c.1768C>A (p.Gln590Lys)
c.496C>A (p.Gln166Lys)
n.2038C>A
c.1765C>A (p.Gln589Lys)
c.1159C>A (p.Gln387Lys)
17g.75835490G>ACA502049633UNC13Dc.702C>T (p.Phe234=)
c.1767C>T (p.Phe589=)
c.495C>T (p.Phe165=)
n.2037C>T
c.1764C>T (p.Phe588=)
c.1158C>T (p.Phe386=)
 dbSNP
17g.75835490G>CCA401092787UNC13Dc.702C>G (p.Phe234Leu)
c.1767C>G (p.Phe589Leu)
c.495C>G (p.Phe165Leu)
n.2037C>G
c.1764C>G (p.Phe588Leu)
c.1158C>G (p.Phe386Leu)
17g.75835490G>TCA401092794UNC13Dc.702C>A (p.Phe234Leu)
c.1767C>A (p.Phe589Leu)
c.495C>A (p.Phe165Leu)
n.2037C>A
c.1764C>A (p.Phe588Leu)
c.1158C>A (p.Phe386Leu)
17g.75835491A>CCA401092805UNC13Dc.701T>G (p.Phe234Cys)
c.1766T>G (p.Phe589Cys)
c.494T>G (p.Phe165Cys)
n.2036T>G
c.1763T>G (p.Phe588Cys)
c.1157T>G (p.Phe386Cys)
17g.75835491A>GCA401092803UNC13Dc.701T>C (p.Phe234Ser)
c.1766T>C (p.Phe589Ser)
c.494T>C (p.Phe165Ser)
n.2036T>C
c.1763T>C (p.Phe588Ser)
c.1157T>C (p.Phe386Ser)
17g.75835491A>TCA401092801UNC13Dc.701T>A (p.Phe234Tyr)
c.1766T>A (p.Phe589Tyr)
c.494T>A (p.Phe165Tyr)
n.2036T>A
c.1763T>A (p.Phe588Tyr)
c.1157T>A (p.Phe386Tyr)
17g.75835491_75835493delCA2576393021UNC13Dc.699_701del (p.Trp233_Phe234delinsCys)
c.1764_1766del (p.Trp588_Phe589delinsCys)
c.492_494del (p.Trp164_Phe165delinsCys)
n.2034_2036del
c.1761_1763del (p.Trp587_Phe588delinsCys)
c.1155_1157del (p.Trp385_Phe386delinsCys)
17g.75835492A>CCA401092808UNC13Dc.700T>G (p.Phe234Val)
c.1765T>G (p.Phe589Val)
c.493T>G (p.Phe165Val)
n.2035T>G
c.1762T>G (p.Phe588Val)
c.1156T>G (p.Phe386Val)
 gnomAD v4
17g.75835492A>GCA401092811UNC13Dc.700T>C (p.Phe234Leu)
c.1765T>C (p.Phe589Leu)
c.493T>C (p.Phe165Leu)
n.2035T>C
c.1762T>C (p.Phe588Leu)
c.1156T>C (p.Phe386Leu)
17g.75835492A>TCA401092814UNC13Dc.700T>A (p.Phe234Ile)
c.1765T>A (p.Phe589Ile)
c.493T>A (p.Phe165Ile)
n.2035T>A
c.1762T>A (p.Phe588Ile)
c.1156T>A (p.Phe386Ile)
17g.75835493C>ACA401092822UNC13Dc.699G>T (p.Trp233Cys)
c.1764G>T (p.Trp588Cys)
c.492G>T (p.Trp164Cys)
n.2034G>T
c.1761G>T (p.Trp587Cys)
c.1155G>T (p.Trp385Cys)
 gnomAD v4
17g.75835493C>GCA401092825UNC13Dc.699G>C (p.Trp233Cys)
c.1764G>C (p.Trp588Cys)
c.492G>C (p.Trp164Cys)
n.2034G>C
c.1761G>C (p.Trp587Cys)
c.1155G>C (p.Trp385Cys)
17g.75835493C>TCA401092827UNC13Dc.699G>A (p.Trp233Ter)
c.1764G>A (p.Trp588Ter)
c.492G>A (p.Trp164Ter)
n.2034G>A
c.1761G>A (p.Trp587Ter)
c.1155G>A (p.Trp385Ter)
17g.75835494C>ACA401092830UNC13Dc.698G>T (p.Trp233Leu)
c.1763G>T (p.Trp588Leu)
c.491G>T (p.Trp164Leu)
n.2033G>T
c.1760G>T (p.Trp587Leu)
c.1154G>T (p.Trp385Leu)
 gnomAD v4
17g.75835494C>GCA401092839UNC13Dc.698G>C (p.Trp233Ser)
c.1763G>C (p.Trp588Ser)
c.491G>C (p.Trp164Ser)
n.2033G>C
c.1760G>C (p.Trp587Ser)
c.1154G>C (p.Trp385Ser)
17g.75835494C>TCA401092837UNC13Dc.698G>A (p.Trp233Ter)
c.1763G>A (p.Trp588Ter)
c.491G>A (p.Trp164Ter)
n.2033G>A
c.1760G>A (p.Trp587Ter)
c.1154G>A (p.Trp385Ter)
 ClinVar
17g.75835495A=CA2275706523UNC13Dc.697T= (p.Trp233=)
c.1762T= (p.Trp588=)
c.490T= (p.Trp164=)
n.2032T=
c.1759T= (p.Trp587=)
c.1153T= (p.Trp385=)
17g.75835495A>CCA401092843UNC13Dc.697T>G (p.Trp233Gly)
c.1762T>G (p.Trp588Gly)
c.490T>G (p.Trp164Gly)
n.2032T>G
c.1759T>G (p.Trp587Gly)
c.1153T>G (p.Trp385Gly)
17g.75835495A>GCA401092846UNC13Dc.697T>C (p.Trp233Arg)
c.1762T>C (p.Trp588Arg)
c.490T>C (p.Trp164Arg)
n.2032T>C
c.1759T>C (p.Trp587Arg)
c.1153T>C (p.Trp385Arg)
 dbSNP gnomAD v4
17g.75835495A>TCA401092850UNC13Dc.697T>A (p.Trp233Arg)
c.1762T>A (p.Trp588Arg)
c.490T>A (p.Trp164Arg)
n.2032T>A
c.1759T>A (p.Trp587Arg)
c.1153T>A (p.Trp385Arg)
17g.75835496G>ACA502049635UNC13Dc.696C>T (p.Arg232=)
c.1761C>T (p.Arg587=)
c.489C>T (p.Arg163=)
n.2031C>T
c.1758C>T (p.Arg586=)
c.1152C>T (p.Arg384=)
17g.75835496G>CCA502049636UNC13Dc.696C>G (p.Arg232=)
c.1761C>G (p.Arg587=)
c.489C>G (p.Arg163=)
n.2031C>G
c.1758C>G (p.Arg586=)
c.1152C>G (p.Arg384=)
17g.75835496G>TCA502049637UNC13Dc.696C>A (p.Arg232=)
c.1761C>A (p.Arg587=)
c.489C>A (p.Arg163=)
n.2031C>A
c.1758C>A (p.Arg586=)
c.1152C>A (p.Arg384=)
17g.75835497C>ACA8772817UNC13Dc.695G>T (p.Arg232Leu)
c.1760G>T (p.Arg587Leu)
c.488G>T (p.Arg163Leu)
n.2030G>T
c.1757G>T (p.Arg586Leu)
c.1151G>T (p.Arg384Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.75835497C=CA2275706524UNC13Dc.695G= (p.Arg232=)
c.1760G= (p.Arg587=)
c.488G= (p.Arg163=)
n.2030G=
c.1757G= (p.Arg586=)
c.1151G= (p.Arg384=)
17g.75835497C>GCA401092860UNC13Dc.695G>C (p.Arg232Pro)
c.1760G>C (p.Arg587Pro)
c.488G>C (p.Arg163Pro)
n.2030G>C
c.1757G>C (p.Arg586Pro)
c.1151G>C (p.Arg384Pro)
17g.75835497C>TCA8772816UNC13Dc.695G>A (p.Arg232His)
c.1760G>A (p.Arg587His)
c.488G>A (p.Arg163His)
n.2030G>A
c.1757G>A (p.Arg586His)
c.1151G>A (p.Arg384His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835498G>ACA8772818UNC13Dc.694C>T (p.Arg232Cys)
c.1759C>T (p.Arg587Cys)
c.487C>T (p.Arg163Cys)
n.2029C>T
c.1756C>T (p.Arg586Cys)
c.1150C>T (p.Arg384Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835498G>CCA401092876UNC13Dc.694C>G (p.Arg232Gly)
c.1759C>G (p.Arg587Gly)
c.487C>G (p.Arg163Gly)
n.2029C>G
c.1756C>G (p.Arg586Gly)
c.1150C>G (p.Arg384Gly)
17g.75835498G=CA2275706525UNC13Dc.694C= (p.Arg232=)
c.1759C= (p.Arg587=)
c.487C= (p.Arg163=)
n.2029C=
c.1756C= (p.Arg586=)
c.1150C= (p.Arg384=)
17g.75835498G>TCA401092894UNC13Dc.694C>A (p.Arg232Ser)
c.1759C>A (p.Arg587Ser)
c.487C>A (p.Arg163Ser)
n.2029C>A
c.1756C>A (p.Arg586Ser)
c.1150C>A (p.Arg384Ser)
 gnomAD v4
17g.75835499G>ACA8772819UNC13Dc.693C>T (p.His231=)
c.1758C>T (p.His586=)
c.486C>T (p.His162=)
n.2028C>T
c.1755C>T (p.His585=)
c.1149C>T (p.His383=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835499G>CCA401092896UNC13Dc.693C>G (p.His231Gln)
c.1758C>G (p.His586Gln)
c.486C>G (p.His162Gln)
n.2028C>G
c.1755C>G (p.His585Gln)
c.1149C>G (p.His383Gln)
17g.75835499G=CA2275706526UNC13Dc.693C= (p.His231=)
c.1758C= (p.His586=)
c.486C= (p.His162=)
n.2028C=
c.1755C= (p.His585=)
c.1149C= (p.His383=)
17g.75835499G>TCA401092898UNC13Dc.693C>A (p.His231Gln)
c.1758C>A (p.His586Gln)
c.486C>A (p.His162Gln)
n.2028C>A
c.1755C>A (p.His585Gln)
c.1149C>A (p.His383Gln)
17g.75835500T>ACA401092906UNC13Dc.692A>T (p.His231Leu)
c.1757A>T (p.His586Leu)
c.485A>T (p.His162Leu)
n.2027A>T
c.1754A>T (p.His585Leu)
c.1148A>T (p.His383Leu)
17g.75835500T>CCA8772820UNC13Dc.692A>G (p.His231Arg)
c.1757A>G (p.His586Arg)
c.485A>G (p.His162Arg)
n.2027A>G
c.1754A>G (p.His585Arg)
c.1148A>G (p.His383Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75835500T>GCA401092901UNC13Dc.692A>C (p.His231Pro)
c.1757A>C (p.His586Pro)
c.485A>C (p.His162Pro)
n.2027A>C
c.1754A>C (p.His585Pro)
c.1148A>C (p.His383Pro)
 dbSNP
17g.75835500T=CA2275706527UNC13Dc.692A= (p.His231=)
c.1757A= (p.His586=)
c.485A= (p.His162=)
n.2027A=
c.1754A= (p.His585=)
c.1148A= (p.His383=)
17g.75835501G>ACA401092925UNC13Dc.691C>T (p.His231Tyr)
c.1756C>T (p.His586Tyr)
c.484C>T (p.His162Tyr)
n.2026C>T
c.1753C>T (p.His585Tyr)
c.1147C>T (p.His383Tyr)
 COSMIC
17g.75835501G>CCA401092922UNC13Dc.691C>G (p.His231Asp)
c.1756C>G (p.His586Asp)
c.484C>G (p.His162Asp)
n.2026C>G
c.1753C>G (p.His585Asp)
c.1147C>G (p.His383Asp)
17g.75835501G>TCA401092923UNC13Dc.691C>A (p.His231Asn)
c.1756C>A (p.His586Asn)
c.484C>A (p.His162Asn)
n.2026C>A
c.1753C>A (p.His585Asn)
c.1147C>A (p.His383Asn)
17g.75835502G>ACA502049645UNC13Dc.690C>T (p.Phe230=)
c.1755C>T (p.Phe585=)
c.483C>T (p.Phe161=)
n.2025C>T
c.1752C>T (p.Phe584=)
c.1146C>T (p.Phe382=)
 gnomAD v4
17g.75835502G>CCA401092931UNC13Dc.690C>G (p.Phe230Leu)
c.1755C>G (p.Phe585Leu)
c.483C>G (p.Phe161Leu)
n.2025C>G
c.1752C>G (p.Phe584Leu)
c.1146C>G (p.Phe382Leu)
17g.75835502G=CA2275706528UNC13Dc.690C= (p.Phe230=)
c.1755C= (p.Phe585=)
c.483C= (p.Phe161=)
n.2025C=
c.1752C= (p.Phe584=)
c.1146C= (p.Phe382=)
17g.75835502G>TCA401092933UNC13Dc.690C>A (p.Phe230Leu)
c.1755C>A (p.Phe585Leu)
c.483C>A (p.Phe161Leu)
n.2025C>A
c.1752C>A (p.Phe584Leu)
c.1146C>A (p.Phe382Leu)
17g.75835503A>CCA401092938UNC13Dc.689T>G (p.Phe230Cys)
c.1754T>G (p.Phe585Cys)
c.482T>G (p.Phe161Cys)
n.2024T>G
c.1751T>G (p.Phe584Cys)
c.1145T>G (p.Phe382Cys)
17g.75835503A>GCA401092940UNC13Dc.689T>C (p.Phe230Ser)
c.1754T>C (p.Phe585Ser)
c.482T>C (p.Phe161Ser)
n.2024T>C
c.1751T>C (p.Phe584Ser)
c.1145T>C (p.Phe382Ser)
 gnomAD v4
17g.75835503A>TCA401092941UNC13Dc.689T>A (p.Phe230Tyr)
c.1754T>A (p.Phe585Tyr)
c.482T>A (p.Phe161Tyr)
n.2024T>A
c.1751T>A (p.Phe584Tyr)
c.1145T>A (p.Phe382Tyr)
17g.75835505dupCA252029UNC13Dc.689dup (p.His231ProfsTer?)
c.1754dup (p.His586ProfsTer?)
c.482dup (p.His162ProfsTer?)
n.2024dup
c.1751dup (p.His585ProfsTer?)
c.1145dup (p.His383ProfsTer?)
 ClinVar dbSNP
17g.75835504A>CCA401092943UNC13Dc.688T>G (p.Phe230Val)
c.1753T>G (p.Phe585Val)
c.481T>G (p.Phe161Val)
n.2023T>G
c.1750T>G (p.Phe584Val)
c.1144T>G (p.Phe382Val)
17g.75835504A>GCA401092946UNC13Dc.688T>C (p.Phe230Leu)
c.1753T>C (p.Phe585Leu)
c.481T>C (p.Phe161Leu)
n.2023T>C
c.1750T>C (p.Phe584Leu)
c.1144T>C (p.Phe382Leu)
17g.75835504A>TCA401092963UNC13Dc.688T>A (p.Phe230Ile)
c.1753T>A (p.Phe585Ile)
c.481T>A (p.Phe161Ile)
n.2023T>A
c.1750T>A (p.Phe584Ile)
c.1144T>A (p.Phe382Ile)
17g.75835505A>CCA401092964UNC13Dc.687T>G (p.Asn229Lys)
c.1752T>G (p.Asn584Lys)
c.480T>G (p.Asn160Lys)
n.2022T>G
c.1749T>G (p.Asn583Lys)
c.1143T>G (p.Asn381Lys)
17g.75835505A>GCA502049652UNC13Dc.687T>C (p.Asn229=)
c.1752T>C (p.Asn584=)
c.480T>C (p.Asn160=)
n.2022T>C
c.1749T>C (p.Asn583=)
c.1143T>C (p.Asn381=)
 gnomAD v4
17g.75835505A>TCA401092965UNC13Dc.687T>A (p.Asn229Lys)
c.1752T>A (p.Asn584Lys)
c.480T>A (p.Asn160Lys)
n.2022T>A
c.1749T>A (p.Asn583Lys)
c.1143T>A (p.Asn381Lys)
17g.75835506T>ACA401092972UNC13Dc.686A>T (p.Asn229Ile)
c.1751A>T (p.Asn584Ile)
c.479A>T (p.Asn160Ile)
n.2021A>T
c.1748A>T (p.Asn583Ile)
c.1142A>T (p.Asn381Ile)
17g.75835506T>CCA401092969UNC13Dc.686A>G (p.Asn229Ser)
c.1751A>G (p.Asn584Ser)
c.479A>G (p.Asn160Ser)
n.2021A>G
c.1748A>G (p.Asn583Ser)
c.1142A>G (p.Asn381Ser)
17g.75835506T>GCA401092968UNC13Dc.686A>C (p.Asn229Thr)
c.1751A>C (p.Asn584Thr)
c.479A>C (p.Asn160Thr)
n.2021A>C
c.1748A>C (p.Asn583Thr)
c.1142A>C (p.Asn381Thr)
17g.75835507T>ACA401092977UNC13Dc.685A>T (p.Asn229Tyr)
c.1750A>T (p.Asn584Tyr)
c.478A>T (p.Asn160Tyr)
n.2020A>T
c.1747A>T (p.Asn583Tyr)
c.1141A>T (p.Asn381Tyr)
17g.75835507T>CCA8772821UNC13Dc.685A>G (p.Asn229Asp)
c.1750A>G (p.Asn584Asp)
c.478A>G (p.Asn160Asp)
n.2020A>G
c.1747A>G (p.Asn583Asp)
c.1141A>G (p.Asn381Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.75835507T>GCA401092985UNC13Dc.685A>C (p.Asn229His)
c.1750A>C (p.Asn584His)
c.478A>C (p.Asn160His)
n.2020A>C
c.1747A>C (p.Asn583His)
c.1141A>C (p.Asn381His)
17g.75835507T=CA2275706529UNC13Dc.685A= (p.Asn229=)
c.1750A= (p.Asn584=)
c.478A= (p.Asn160=)
n.2020A=
c.1747A= (p.Asn583=)
c.1141A= (p.Asn381=)
17g.75835508A>CCA401092989UNC13Dc.684T>G (p.Asp228Glu)
c.1749T>G (p.Asp583Glu)
c.477T>G (p.Asp159Glu)
n.2019T>G
c.1746T>G (p.Asp582Glu)
c.1140T>G (p.Asp380Glu)
17g.75835508A>GCA502049656UNC13Dc.684T>C (p.Asp228=)
c.1749T>C (p.Asp583=)
c.477T>C (p.Asp159=)
n.2019T>C
c.1746T>C (p.Asp582=)
c.1140T>C (p.Asp380=)
17g.75835508A>TCA401092999UNC13Dc.684T>A (p.Asp228Glu)
c.1749T>A (p.Asp583Glu)
c.477T>A (p.Asp159Glu)
n.2019T>A
c.1746T>A (p.Asp582Glu)
c.1140T>A (p.Asp380Glu)
17g.75835509T>ACA401093004UNC13Dc.683A>T (p.Asp228Val)
c.1748A>T (p.Asp583Val)
c.476A>T (p.Asp159Val)
n.2018A>T
c.1745A>T (p.Asp582Val)
c.1139A>T (p.Asp380Val)
17g.75835509T>CCA401093005UNC13Dc.683A>G (p.Asp228Gly)
c.1748A>G (p.Asp583Gly)
c.476A>G (p.Asp159Gly)
n.2018A>G
c.1745A>G (p.Asp582Gly)
c.1139A>G (p.Asp380Gly)
17g.75835509T>GCA401093006UNC13Dc.683A>C (p.Asp228Ala)
c.1748A>C (p.Asp583Ala)
c.476A>C (p.Asp159Ala)
n.2018A>C
c.1745A>C (p.Asp582Ala)
c.1139A>C (p.Asp380Ala)
17g.75835510C>ACA401093009UNC13Dc.682G>T (p.Asp228Tyr)
c.1747G>T (p.Asp583Tyr)
c.475G>T (p.Asp159Tyr)
n.2017G>T
c.1744G>T (p.Asp582Tyr)
c.1138G>T (p.Asp380Tyr)
17g.75835510C=CA2275706530UNC13Dc.682G= (p.Asp228=)
c.1747G= (p.Asp583=)
c.475G= (p.Asp159=)
n.2017G=
c.1744G= (p.Asp582=)
c.1138G= (p.Asp380=)
17g.75835510C>GCA401093013UNC13Dc.682G>C (p.Asp228His)
c.1747G>C (p.Asp583His)
c.475G>C (p.Asp159His)
n.2017G>C
c.1744G>C (p.Asp582His)
c.1138G>C (p.Asp380His)
17g.75835510C>TCA401093032UNC13Dc.682G>A (p.Asp228Asn)
c.1747G>A (p.Asp583Asn)
c.475G>A (p.Asp159Asn)
n.2017G>A
c.1744G>A (p.Asp582Asn)
c.1138G>A (p.Asp380Asn)
 dbSNP gnomAD v2
17g.75835511C>ACA502049663UNC13Dc.681G>T (p.Leu227=)
c.1746G>T (p.Leu582=)
c.474G>T (p.Leu158=)
n.2016G>T
c.1743G>T (p.Leu581=)
c.1137G>T (p.Leu379=)
17g.75835511C=CA2275706531UNC13Dc.681G= (p.Leu227=)
c.1746G= (p.Leu582=)
c.474G= (p.Leu158=)
n.2016G=
c.1743G= (p.Leu581=)
c.1137G= (p.Leu379=)
17g.75835511C>GCA502049665UNC13Dc.681G>C (p.Leu227=)
c.1746G>C (p.Leu582=)
c.474G>C (p.Leu158=)
n.2016G>C
c.1743G>C (p.Leu581=)
c.1137G>C (p.Leu379=)
17g.75835511C>TCA502049664UNC13Dc.681G>A (p.Leu227=)
c.1746G>A (p.Leu582=)
c.474G>A (p.Leu158=)
n.2016G>A
c.1743G>A (p.Leu581=)
c.1137G>A (p.Leu379=)
 dbSNP gnomAD v2
17g.75835512A=CA2275706532UNC13Dc.680T= (p.Leu227=)
c.1745T= (p.Leu582=)
c.473T= (p.Leu158=)
n.2015T=
c.1742T= (p.Leu581=)
c.1136T= (p.Leu379=)
17g.75835512A>CCA294086741UNC13Dc.680T>G (p.Leu227Arg)
c.1745T>G (p.Leu582Arg)
c.473T>G (p.Leu158Arg)
n.2015T>G
c.1742T>G (p.Leu581Arg)
c.1136T>G (p.Leu379Arg)
 dbSNP gnomAD v4
17g.75835512A>GCA401093050UNC13Dc.680T>C (p.Leu227Pro)
c.1745T>C (p.Leu582Pro)
c.473T>C (p.Leu158Pro)
n.2015T>C
c.1742T>C (p.Leu581Pro)
c.1136T>C (p.Leu379Pro)
 gnomAD v4
17g.75835512A>TCA401093052UNC13Dc.680T>A (p.Leu227Gln)
c.1745T>A (p.Leu582Gln)
c.473T>A (p.Leu158Gln)
n.2015T>A
c.1742T>A (p.Leu581Gln)
c.1136T>A (p.Leu379Gln)
17g.75835513G>ACA8772822UNC13Dc.679C>T (p.Leu227=)
c.1744C>T (p.Leu582=)
c.472C>T (p.Leu158=)
n.2014C>T
c.1741C>T (p.Leu581=)
c.1135C>T (p.Leu379=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835513G>CCA401093069UNC13Dc.679C>G (p.Leu227Val)
c.1744C>G (p.Leu582Val)
c.472C>G (p.Leu158Val)
n.2014C>G
c.1741C>G (p.Leu581Val)
c.1135C>G (p.Leu379Val)
17g.75835513G=CA2275706533UNC13Dc.679C= (p.Leu227=)
c.1744C= (p.Leu582=)
c.472C= (p.Leu158=)
n.2014C=
c.1741C= (p.Leu581=)
c.1135C= (p.Leu379=)
17g.75835513G>TCA401093061UNC13Dc.679C>A (p.Leu227Met)
c.1744C>A (p.Leu582Met)
c.472C>A (p.Leu158Met)
n.2014C>A
c.1741C>A (p.Leu581Met)
c.1135C>A (p.Leu379Met)
17g.75835514G>ACA502049671UNC13Dc.678C>T (p.Ala226=)
c.1743C>T (p.Ala581=)
c.471C>T (p.Ala157=)
n.2013C>T
c.1740C>T (p.Ala580=)
c.1134C>T (p.Ala378=)
17g.75835514G>CCA502049673UNC13Dc.678C>G (p.Ala226=)
c.1743C>G (p.Ala581=)
c.471C>G (p.Ala157=)
n.2013C>G
c.1740C>G (p.Ala580=)
c.1134C>G (p.Ala378=)
 dbSNP gnomAD v3 gnomAD v4
17g.75835514G=CA2275706534UNC13Dc.678C= (p.Ala226=)
c.1743C= (p.Ala581=)
c.471C= (p.Ala157=)
n.2013C=
c.1740C= (p.Ala580=)
c.1134C= (p.Ala378=)
17g.75835514G>TCA502049674UNC13Dc.678C>A (p.Ala226=)
c.1743C>A (p.Ala581=)
c.471C>A (p.Ala157=)
n.2013C>A
c.1740C>A (p.Ala580=)
c.1134C>A (p.Ala378=)
17g.75835515G>ACA401093078UNC13Dc.677C>T (p.Ala226Val)
c.1742C>T (p.Ala581Val)
c.470C>T (p.Ala157Val)
n.2012C>T
c.1739C>T (p.Ala580Val)
c.1133C>T (p.Ala378Val)
 dbSNP gnomAD v4
17g.75835515G>CCA401093080UNC13Dc.677C>G (p.Ala226Gly)
c.1742C>G (p.Ala581Gly)
c.470C>G (p.Ala157Gly)
n.2012C>G
c.1739C>G (p.Ala580Gly)
c.1133C>G (p.Ala378Gly)
17g.75835515G=CA2275706535UNC13Dc.677C= (p.Ala226=)
c.1742C= (p.Ala581=)
c.470C= (p.Ala157=)
n.2012C=
c.1739C= (p.Ala580=)
c.1133C= (p.Ala378=)
17g.75835515G>TCA401093081UNC13Dc.677C>A (p.Ala226Asp)
c.1742C>A (p.Ala581Asp)
c.470C>A (p.Ala157Asp)
n.2012C>A
c.1739C>A (p.Ala580Asp)
c.1133C>A (p.Ala378Asp)
17g.75835516C>ACA8772823UNC13Dc.676G>T (p.Ala226Ser)
c.1741G>T (p.Ala581Ser)
c.469G>T (p.Ala157Ser)
n.2011G>T
c.1738G>T (p.Ala580Ser)
c.1132G>T (p.Ala378Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75835516C=CA2275706536UNC13Dc.676G= (p.Ala226=)
c.1741G= (p.Ala581=)
c.469G= (p.Ala157=)
n.2011G=
c.1738G= (p.Ala580=)
c.1132G= (p.Ala378=)
17g.75835516C>GCA401093089UNC13Dc.676G>C (p.Ala226Pro)
c.1741G>C (p.Ala581Pro)
c.469G>C (p.Ala157Pro)
n.2011G>C
c.1738G>C (p.Ala580Pro)
c.1132G>C (p.Ala378Pro)
17g.75835516C>TCA401093094UNC13Dc.676G>A (p.Ala226Thr)
c.1741G>A (p.Ala581Thr)
c.469G>A (p.Ala157Thr)
n.2011G>A
c.1738G>A (p.Ala580Thr)
c.1132G>A (p.Ala378Thr)
 COSMIC
17g.75835517C>ACA502049679UNC13Dc.675G>T (p.Leu225=)
c.1740G>T (p.Leu580=)
c.468G>T (p.Leu156=)
n.2010G>T
c.1737G>T (p.Leu579=)
c.1131G>T (p.Leu377=)
17g.75835517C=CA2275706537UNC13Dc.675G= (p.Leu225=)
c.1740G= (p.Leu580=)
c.468G= (p.Leu156=)
n.2010G=
c.1737G= (p.Leu579=)
c.1131G= (p.Leu377=)
17g.75835517C>GCA502049681UNC13Dc.675G>C (p.Leu225=)
c.1740G>C (p.Leu580=)
c.468G>C (p.Leu156=)
n.2010G>C
c.1737G>C (p.Leu579=)
c.1131G>C (p.Leu377=)
17g.75835517C>TCA502049684UNC13Dc.675G>A (p.Leu225=)
c.1740G>A (p.Leu580=)
c.468G>A (p.Leu156=)
n.2010G>A
c.1737G>A (p.Leu579=)
c.1131G>A (p.Leu377=)
 dbSNP gnomAD v3 gnomAD v4
17g.75835518A>CCA401093106UNC13Dc.674T>G (p.Leu225Arg)
c.1739T>G (p.Leu580Arg)
c.467T>G (p.Leu156Arg)
n.2009T>G
c.1736T>G (p.Leu579Arg)
c.1130T>G (p.Leu377Arg)
17g.75835518A>GCA401093103UNC13Dc.674T>C (p.Leu225Pro)
c.1739T>C (p.Leu580Pro)
c.467T>C (p.Leu156Pro)
n.2009T>C
c.1736T>C (p.Leu579Pro)
c.1130T>C (p.Leu377Pro)
17g.75835518A>TCA401093105UNC13Dc.674T>A (p.Leu225Gln)
c.1739T>A (p.Leu580Gln)
c.467T>A (p.Leu156Gln)
n.2009T>A
c.1736T>A (p.Leu579Gln)
c.1130T>A (p.Leu377Gln)
17g.75835519G>ACA502049688UNC13Dc.673C>T (p.Leu225=)
c.1738C>T (p.Leu580=)
c.466C>T (p.Leu156=)
n.2008C>T
c.1735C>T (p.Leu579=)
c.1129C>T (p.Leu377=)
17g.75835519G>CCA401093107UNC13Dc.673C>G (p.Leu225Val)
c.1738C>G (p.Leu580Val)
c.466C>G (p.Leu156Val)
n.2008C>G
c.1735C>G (p.Leu579Val)
c.1129C>G (p.Leu377Val)
17g.75835519G>TCA401093110UNC13Dc.673C>A (p.Leu225Met)
c.1738C>A (p.Leu580Met)
c.466C>A (p.Leu156Met)
n.2008C>A
c.1735C>A (p.Leu579Met)
c.1129C>A (p.Leu377Met)
 gnomAD v4
17g.75835520G>ACA502049693UNC13Dc.672C>T (p.Val224=)
c.1737C>T (p.Val579=)
c.465C>T (p.Val155=)
n.2007C>T
c.1734C>T (p.Val578=)
c.1128C>T (p.Val376=)
 dbSNP gnomAD v2 gnomAD v4
17g.75835520G>CCA502049691UNC13Dc.672C>G (p.Val224=)
c.1737C>G (p.Val579=)
c.465C>G (p.Val155=)
n.2007C>G
c.1734C>G (p.Val578=)
c.1128C>G (p.Val376=)
17g.75835520G=CA2275706538UNC13Dc.672C= (p.Val224=)
c.1737C= (p.Val579=)
c.465C= (p.Val155=)
n.2007C=
c.1734C= (p.Val578=)
c.1128C= (p.Val376=)
17g.75835520G>TCA502049690UNC13Dc.672C>A (p.Val224=)
c.1737C>A (p.Val579=)
c.465C>A (p.Val155=)
n.2007C>A
c.1734C>A (p.Val578=)
c.1128C>A (p.Val376=)
 dbSNP
17g.75835521A>CCA401093125UNC13Dc.671T>G (p.Val224Gly)
c.1736T>G (p.Val579Gly)
c.464T>G (p.Val155Gly)
n.2006T>G
c.1733T>G (p.Val578Gly)
c.1127T>G (p.Val376Gly)
17g.75835521A>GCA401093140UNC13Dc.671T>C (p.Val224Ala)
c.1736T>C (p.Val579Ala)
c.464T>C (p.Val155Ala)
n.2006T>C
c.1733T>C (p.Val578Ala)
c.1127T>C (p.Val376Ala)
 gnomAD v4
17g.75835521A>TCA401093144UNC13Dc.671T>A (p.Val224Asp)
c.1736T>A (p.Val579Asp)
c.464T>A (p.Val155Asp)
n.2006T>A
c.1733T>A (p.Val578Asp)
c.1127T>A (p.Val376Asp)
17g.75835522C>ACA401093162UNC13Dc.670G>T (p.Val224Phe)
c.1735G>T (p.Val579Phe)
c.463G>T (p.Val155Phe)
n.2005G>T
c.1732G>T (p.Val578Phe)
c.1126G>T (p.Val376Phe)
17g.75835522C>GCA401093169UNC13Dc.670G>C (p.Val224Leu)
c.1735G>C (p.Val579Leu)
c.463G>C (p.Val155Leu)
n.2005G>C
c.1732G>C (p.Val578Leu)
c.1126G>C (p.Val376Leu)
17g.75835522C>TCA401093166UNC13Dc.670G>A (p.Val224Ile)
c.1735G>A (p.Val579Ile)
c.463G>A (p.Val155Ile)
n.2005G>A
c.1732G>A (p.Val578Ile)
c.1126G>A (p.Val376Ile)
17g.75835523T>ACA502049699UNC13Dc.669A>T (p.Gly223=)
c.1734A>T (p.Gly578=)
c.462A>T (p.Gly154=)
n.2004A>T
c.1731A>T (p.Gly577=)
c.1125A>T (p.Gly375=)
17g.75835523T>CCA502049700UNC13Dc.669A>G (p.Gly223=)
c.1734A>G (p.Gly578=)
c.462A>G (p.Gly154=)
n.2004A>G
c.1731A>G (p.Gly577=)
c.1125A>G (p.Gly375=)
17g.75835523T>GCA502049701UNC13Dc.669A>C (p.Gly223=)
c.1734A>C (p.Gly578=)
c.462A>C (p.Gly154=)
n.2004A>C
c.1731A>C (p.Gly577=)
c.1125A>C (p.Gly375=)
 dbSNP gnomAD v2 gnomAD v4
17g.75835523T=CA2275706539UNC13Dc.669A= (p.Gly223=)
c.1734A= (p.Gly578=)
c.462A= (p.Gly154=)
n.2004A=
c.1731A= (p.Gly577=)
c.1125A= (p.Gly375=)
17g.75835524C>ACA401093185UNC13Dc.668G>T (p.Gly223Val)
c.1733G>T (p.Gly578Val)
c.461G>T (p.Gly154Val)
n.2003G>T
c.1730G>T (p.Gly577Val)
c.1124G>T (p.Gly375Val)
17g.75835524C>GCA401093196UNC13Dc.668G>C (p.Gly223Ala)
c.1733G>C (p.Gly578Ala)
c.461G>C (p.Gly154Ala)
n.2003G>C
c.1730G>C (p.Gly577Ala)
c.1124G>C (p.Gly375Ala)
 gnomAD v4
17g.75835524C>TCA401093201UNC13Dc.668G>A (p.Gly223Glu)
c.1733G>A (p.Gly578Glu)
c.461G>A (p.Gly154Glu)
n.2003G>A
c.1730G>A (p.Gly577Glu)
c.1124G>A (p.Gly375Glu)
17g.75835525C>ACA401093204UNC13Dc.667G>T (p.Gly223Ter)
c.1732G>T (p.Gly578Ter)
c.460G>T (p.Gly154Ter)
n.2002G>T
c.1729G>T (p.Gly577Ter)
c.1123G>T (p.Gly375Ter)
17g.75835525C>GCA401093205UNC13Dc.667G>C (p.Gly223Arg)
c.1732G>C (p.Gly578Arg)
c.460G>C (p.Gly154Arg)
n.2002G>C
c.1729G>C (p.Gly577Arg)
c.1123G>C (p.Gly375Arg)
17g.75835525C>TCA401093208UNC13Dc.667G>A (p.Gly223Arg)
c.1732G>A (p.Gly578Arg)
c.460G>A (p.Gly154Arg)
n.2002G>A
c.1729G>A (p.Gly577Arg)
c.1123G>A (p.Gly375Arg)
17g.75835526A=CA2275706540UNC13Dc.666T= (p.Asp222=)
c.1731T= (p.Asp577=)
c.459T= (p.Asp153=)
n.2001T=
c.1728T= (p.Asp576=)
c.1122T= (p.Asp374=)
17g.75835526A>CCA401093211UNC13Dc.666T>G (p.Asp222Glu)
c.1731T>G (p.Asp577Glu)
c.459T>G (p.Asp153Glu)
n.2001T>G
c.1728T>G (p.Asp576Glu)
c.1122T>G (p.Asp374Glu)
17g.75835526A>GCA502049709UNC13Dc.666T>C (p.Asp222=)
c.1731T>C (p.Asp577=)
c.459T>C (p.Asp153=)
n.2001T>C
c.1728T>C (p.Asp576=)
c.1122T>C (p.Asp374=)
17g.75835526A>TCA401093216UNC13Dc.666T>A (p.Asp222Glu)
c.1731T>A (p.Asp577Glu)
c.459T>A (p.Asp153Glu)
n.2001T>A
c.1728T>A (p.Asp576Glu)
c.1122T>A (p.Asp374Glu)
17g.75835527T>ACA401093227UNC13Dc.665A>T (p.Asp222Val)
c.1730A>T (p.Asp577Val)
c.458A>T (p.Asp153Val)
n.2000A>T
c.1727A>T (p.Asp576Val)
c.1121A>T (p.Asp374Val)
17g.75835527T>CCA401093231UNC13Dc.665A>G (p.Asp222Gly)
c.1730A>G (p.Asp577Gly)
c.458A>G (p.Asp153Gly)
n.2000A>G
c.1727A>G (p.Asp576Gly)
c.1121A>G (p.Asp374Gly)
17g.75835527T>GCA294086746UNC13Dc.665A>C (p.Asp222Ala)
c.1730A>C (p.Asp577Ala)
c.458A>C (p.Asp153Ala)
n.2000A>C
c.1727A>C (p.Asp576Ala)
c.1121A>C (p.Asp374Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.75835527T=CA2275706543UNC13Dc.665A= (p.Asp222=)
c.1730A= (p.Asp577=)
c.458A= (p.Asp153=)
n.2000A=
c.1727A= (p.Asp576=)
c.1121A= (p.Asp374=)
17g.75835527_75835528delinsTCCA2275706542UNC13Dc.664_665delinsGA (p.Asp222=)
c.1729_1730delinsGA (p.Asp577=)
c.457_458delinsGA (p.Asp153=)
n.1999_2000delinsGA
c.1726_1727delinsGA (p.Asp576=)
c.1120_1121delinsGA (p.Asp374=)
17g.75835527_75835531dupCA2275706541UNC13Dc.663-2_665dup
c.1728-2_1730dup
c.456-2_458dup
n.1998-2_2000dup
c.1725-2_1727dup
c.1119-2_1121dup
 dbSNP

Number of alleles fetched