Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.46024011_46024022delCA2695226186MAPTc.1079_1090del (p.Gly360_Ile363del)
c.992_1003del (p.Gly331_Ile334del)
c.1166_1177del (p.Gly389_Ile392del)
n.392_403del
n.350_361del
n.584_595del
c.2342_2353del (p.Gly781_Ile784del)
c.2051_2062del (p.Gly684_Ile687del)
c.986_997del (p.Gly329_Ile332del)
c.1115_1126del (p.Gly372_Ile375del)
c.2117_2128del (p.Gly706_Ile709del)
c.899_910del (p.Gly300_Ile303del)
c.2171_2182del (p.Gly724_Ile727del)
c.1073_1084del (p.Gly358_Ile361del)
n.6358_6369del
c.2429_2440del (p.Gly810_Ile813del)
c.2336_2347del (p.Gly779_Ile782del)
c.2255_2266del (p.Gly752_Ile755del)
c.2231_2242del (p.Gly744_Ile747del)
c.2138_2149del (p.Gly713_Ile716del)
c.1364_1375del (p.Gly455_Ile458del)
c.1277_1288del (p.Gly426_Ile429del)
c.1190_1201del (p.Gly397_Ile400del)
c.772-1106_772-1095del (n.772-1106_772-1095del)
n.997_1008del
17g.46024010G>ACA257189MAPTc.1078G>A (p.Gly360Arg)
c.991G>A (p.Gly331Arg)
c.1165G>A (p.Gly389Arg)
n.391G>A
n.349G>A
n.583G>A
c.2341G>A (p.Gly781Arg)
c.2050G>A (p.Gly684Arg)
c.985G>A (p.Gly329Arg)
c.1114G>A (p.Gly372Arg)
c.2116G>A (p.Gly706Arg)
c.898G>A (p.Gly300Arg)
c.2170G>A (p.Gly724Arg)
c.1072G>A (p.Gly358Arg)
n.6357G>A
c.2428G>A (p.Gly810Arg)
c.2335G>A (p.Gly779Arg)
c.2254G>A (p.Gly752Arg)
c.2230G>A (p.Gly744Arg)
c.2137G>A (p.Gly713Arg)
c.1363G>A (p.Gly455Arg)
c.1276G>A (p.Gly426Arg)
c.1189G>A (p.Gly397Arg)
c.772-1107G>A (n.772-1107G>A)
n.996G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46024010G>CCA225494MAPTc.1078G>C (p.Gly360Arg)
c.991G>C (p.Gly331Arg)
c.1165G>C (p.Gly389Arg)
n.391G>C
n.349G>C
n.583G>C
c.2341G>C (p.Gly781Arg)
c.2050G>C (p.Gly684Arg)
c.985G>C (p.Gly329Arg)
c.1114G>C (p.Gly372Arg)
c.2116G>C (p.Gly706Arg)
c.898G>C (p.Gly300Arg)
c.2170G>C (p.Gly724Arg)
c.1072G>C (p.Gly358Arg)
n.6357G>C
c.2428G>C (p.Gly810Arg)
c.2335G>C (p.Gly779Arg)
c.2254G>C (p.Gly752Arg)
c.2230G>C (p.Gly744Arg)
c.2137G>C (p.Gly713Arg)
c.1363G>C (p.Gly455Arg)
c.1276G>C (p.Gly426Arg)
c.1189G>C (p.Gly397Arg)
c.772-1107G>C (n.772-1107G>C)
n.996G>C
 ClinVar dbSNP
17g.46024010G=CA2262106916MAPTc.1078G= (p.Gly360=)
c.991G= (p.Gly331=)
c.1165G= (p.Gly389=)
n.391G=
n.349G=
n.583G=
c.2341G= (p.Gly781=)
c.2050G= (p.Gly684=)
c.985G= (p.Gly329=)
c.1114G= (p.Gly372=)
c.2116G= (p.Gly706=)
c.898G= (p.Gly300=)
c.2170G= (p.Gly724=)
c.1072G= (p.Gly358=)
n.6357G=
c.2428G= (p.Gly810=)
c.2335G= (p.Gly779=)
c.2254G= (p.Gly752=)
c.2230G= (p.Gly744=)
c.2137G= (p.Gly713=)
c.1363G= (p.Gly455=)
c.1276G= (p.Gly426=)
c.1189G= (p.Gly397=)
c.772-1107G= (n.772-1107G=)
n.996G=
17g.46024010G>TCA399984380MAPTc.1078G>T (p.Gly360Trp)
c.991G>T (p.Gly331Trp)
c.1165G>T (p.Gly389Trp)
n.391G>T
n.349G>T
n.583G>T
c.2341G>T (p.Gly781Trp)
c.2050G>T (p.Gly684Trp)
c.985G>T (p.Gly329Trp)
c.1114G>T (p.Gly372Trp)
c.2116G>T (p.Gly706Trp)
c.898G>T (p.Gly300Trp)
c.2170G>T (p.Gly724Trp)
c.1072G>T (p.Gly358Trp)
n.6357G>T
c.2428G>T (p.Gly810Trp)
c.2335G>T (p.Gly779Trp)
c.2254G>T (p.Gly752Trp)
c.2230G>T (p.Gly744Trp)
c.2137G>T (p.Gly713Trp)
c.1363G>T (p.Gly455Trp)
c.1276G>T (p.Gly426Trp)
c.1189G>T (p.Gly397Trp)
c.772-1107G>T (n.772-1107G>T)
n.996G>T
17g.46024013dupCA2840625564MAPTc.1081dup (p.Ala361GlyfsTer?)
c.994dup (p.Ala332GlyfsTer?)
c.1168dup (p.Ala390GlyfsTer?)
n.394dup
n.352dup
n.586dup
c.2344dup (p.Ala782GlyfsTer?)
c.2053dup (p.Ala685GlyfsTer?)
c.988dup (p.Ala330GlyfsTer?)
c.1117dup (p.Ala373GlyfsTer?)
c.2119dup (p.Ala707GlyfsTer?)
c.901dup (p.Ala301GlyfsTer?)
c.2173dup (p.Ala725GlyfsTer?)
c.1075dup (p.Ala359GlyfsTer?)
n.6360dup
c.2431dup (p.Ala811GlyfsTer?)
c.2338dup (p.Ala780GlyfsTer?)
c.2257dup (p.Ala753GlyfsTer?)
c.2233dup (p.Ala745GlyfsTer?)
c.2140dup (p.Ala714GlyfsTer?)
c.1366dup (p.Ala456GlyfsTer?)
c.1279dup (p.Ala427GlyfsTer?)
c.1192dup (p.Ala398GlyfsTer?)
c.772-1104dup (n.772-1104dup)
n.999dup
17g.46024011G>ACA399984381MAPTc.1079G>A (p.Gly360Glu)
c.992G>A (p.Gly331Glu)
c.1166G>A (p.Gly389Glu)
n.392G>A
n.350G>A
n.584G>A
c.2342G>A (p.Gly781Glu)
c.2051G>A (p.Gly684Glu)
c.986G>A (p.Gly329Glu)
c.1115G>A (p.Gly372Glu)
c.2117G>A (p.Gly706Glu)
c.899G>A (p.Gly300Glu)
c.2171G>A (p.Gly724Glu)
c.1073G>A (p.Gly358Glu)
n.6358G>A
c.2429G>A (p.Gly810Glu)
c.2336G>A (p.Gly779Glu)
c.2255G>A (p.Gly752Glu)
c.2231G>A (p.Gly744Glu)
c.2138G>A (p.Gly713Glu)
c.1364G>A (p.Gly455Glu)
c.1277G>A (p.Gly426Glu)
c.1190G>A (p.Gly397Glu)
c.772-1106G>A (n.772-1106G>A)
n.997G>A
17g.46024011G>CCA399984382MAPTc.1079G>C (p.Gly360Ala)
c.992G>C (p.Gly331Ala)
c.1166G>C (p.Gly389Ala)
n.392G>C
n.350G>C
n.584G>C
c.2342G>C (p.Gly781Ala)
c.2051G>C (p.Gly684Ala)
c.986G>C (p.Gly329Ala)
c.1115G>C (p.Gly372Ala)
c.2117G>C (p.Gly706Ala)
c.899G>C (p.Gly300Ala)
c.2171G>C (p.Gly724Ala)
c.1073G>C (p.Gly358Ala)
n.6358G>C
c.2429G>C (p.Gly810Ala)
c.2336G>C (p.Gly779Ala)
c.2255G>C (p.Gly752Ala)
c.2231G>C (p.Gly744Ala)
c.2138G>C (p.Gly713Ala)
c.1364G>C (p.Gly455Ala)
c.1277G>C (p.Gly426Ala)
c.1190G>C (p.Gly397Ala)
c.772-1106G>C (n.772-1106G>C)
n.997G>C
17g.46024011G>TCA399984383MAPTc.1079G>T (p.Gly360Val)
c.992G>T (p.Gly331Val)
c.1166G>T (p.Gly389Val)
n.392G>T
n.350G>T
n.584G>T
c.2342G>T (p.Gly781Val)
c.2051G>T (p.Gly684Val)
c.986G>T (p.Gly329Val)
c.1115G>T (p.Gly372Val)
c.2117G>T (p.Gly706Val)
c.899G>T (p.Gly300Val)
c.2171G>T (p.Gly724Val)
c.1073G>T (p.Gly358Val)
n.6358G>T
c.2429G>T (p.Gly810Val)
c.2336G>T (p.Gly779Val)
c.2255G>T (p.Gly752Val)
c.2231G>T (p.Gly744Val)
c.2138G>T (p.Gly713Val)
c.1364G>T (p.Gly455Val)
c.1277G>T (p.Gly426Val)
c.1190G>T (p.Gly397Val)
c.772-1106G>T (n.772-1106G>T)
n.997G>T
17g.46024012G>ACA500371426MAPTc.1080G>A (p.Gly360=)
c.993G>A (p.Gly331=)
c.1167G>A (p.Gly389=)
n.393G>A
n.351G>A
n.585G>A
c.2343G>A (p.Gly781=)
c.2052G>A (p.Gly684=)
c.987G>A (p.Gly329=)
c.1116G>A (p.Gly372=)
c.2118G>A (p.Gly706=)
c.900G>A (p.Gly300=)
c.2172G>A (p.Gly724=)
c.1074G>A (p.Gly358=)
n.6359G>A
c.2430G>A (p.Gly810=)
c.2337G>A (p.Gly779=)
c.2256G>A (p.Gly752=)
c.2232G>A (p.Gly744=)
c.2139G>A (p.Gly713=)
c.1365G>A (p.Gly455=)
c.1278G>A (p.Gly426=)
c.1191G>A (p.Gly397=)
c.772-1105G>A (n.772-1105G>A)
n.998G>A
 gnomAD v4
17g.46024012G>CCA500371428MAPTc.1080G>C (p.Gly360=)
c.993G>C (p.Gly331=)
c.1167G>C (p.Gly389=)
n.393G>C
n.351G>C
n.585G>C
c.2343G>C (p.Gly781=)
c.2052G>C (p.Gly684=)
c.987G>C (p.Gly329=)
c.1116G>C (p.Gly372=)
c.2118G>C (p.Gly706=)
c.900G>C (p.Gly300=)
c.2172G>C (p.Gly724=)
c.1074G>C (p.Gly358=)
n.6359G>C
c.2430G>C (p.Gly810=)
c.2337G>C (p.Gly779=)
c.2256G>C (p.Gly752=)
c.2232G>C (p.Gly744=)
c.2139G>C (p.Gly713=)
c.1365G>C (p.Gly455=)
c.1278G>C (p.Gly426=)
c.1191G>C (p.Gly397=)
c.772-1105G>C (n.772-1105G>C)
n.998G>C
 dbSNP
17g.46024012G=CA2262106917MAPTc.1080G= (p.Gly360=)
c.993G= (p.Gly331=)
c.1167G= (p.Gly389=)
n.393G=
n.351G=
n.585G=
c.2343G= (p.Gly781=)
c.2052G= (p.Gly684=)
c.987G= (p.Gly329=)
c.1116G= (p.Gly372=)
c.2118G= (p.Gly706=)
c.900G= (p.Gly300=)
c.2172G= (p.Gly724=)
c.1074G= (p.Gly358=)
n.6359G=
c.2430G= (p.Gly810=)
c.2337G= (p.Gly779=)
c.2256G= (p.Gly752=)
c.2232G= (p.Gly744=)
c.2139G= (p.Gly713=)
c.1365G= (p.Gly455=)
c.1278G= (p.Gly426=)
c.1191G= (p.Gly397=)
c.772-1105G= (n.772-1105G=)
n.998G=
17g.46024012G>TCA500371424MAPTc.1080G>T (p.Gly360=)
c.993G>T (p.Gly331=)
c.1167G>T (p.Gly389=)
n.393G>T
n.351G>T
n.585G>T
c.2343G>T (p.Gly781=)
c.2052G>T (p.Gly684=)
c.987G>T (p.Gly329=)
c.1116G>T (p.Gly372=)
c.2118G>T (p.Gly706=)
c.900G>T (p.Gly300=)
c.2172G>T (p.Gly724=)
c.1074G>T (p.Gly358=)
n.6359G>T
c.2430G>T (p.Gly810=)
c.2337G>T (p.Gly779=)
c.2256G>T (p.Gly752=)
c.2232G>T (p.Gly744=)
c.2139G>T (p.Gly713=)
c.1365G>T (p.Gly455=)
c.1278G>T (p.Gly426=)
c.1191G>T (p.Gly397=)
c.772-1105G>T (n.772-1105G>T)
n.998G>T
17g.46024013G>ACA399984384MAPTc.1081G>A (p.Ala361Thr)
c.994G>A (p.Ala332Thr)
c.1168G>A (p.Ala390Thr)
n.394G>A
n.352G>A
n.586G>A
c.2344G>A (p.Ala782Thr)
c.2053G>A (p.Ala685Thr)
c.988G>A (p.Ala330Thr)
c.1117G>A (p.Ala373Thr)
c.2119G>A (p.Ala707Thr)
c.901G>A (p.Ala301Thr)
c.2173G>A (p.Ala725Thr)
c.1075G>A (p.Ala359Thr)
n.6360G>A
c.2431G>A (p.Ala811Thr)
c.2338G>A (p.Ala780Thr)
c.2257G>A (p.Ala753Thr)
c.2233G>A (p.Ala745Thr)
c.2140G>A (p.Ala714Thr)
c.1366G>A (p.Ala456Thr)
c.1279G>A (p.Ala427Thr)
c.1192G>A (p.Ala398Thr)
c.772-1104G>A (n.772-1104G>A)
n.999G>A
 ClinVar dbSNP
17g.46024013G>CCA399984385MAPTc.1081G>C (p.Ala361Pro)
c.994G>C (p.Ala332Pro)
c.1168G>C (p.Ala390Pro)
n.394G>C
n.352G>C
n.586G>C
c.2344G>C (p.Ala782Pro)
c.2053G>C (p.Ala685Pro)
c.988G>C (p.Ala330Pro)
c.1117G>C (p.Ala373Pro)
c.2119G>C (p.Ala707Pro)
c.901G>C (p.Ala301Pro)
c.2173G>C (p.Ala725Pro)
c.1075G>C (p.Ala359Pro)
n.6360G>C
c.2431G>C (p.Ala811Pro)
c.2338G>C (p.Ala780Pro)
c.2257G>C (p.Ala753Pro)
c.2233G>C (p.Ala745Pro)
c.2140G>C (p.Ala714Pro)
c.1366G>C (p.Ala456Pro)
c.1279G>C (p.Ala427Pro)
c.1192G>C (p.Ala398Pro)
c.772-1104G>C (n.772-1104G>C)
n.999G>C
17g.46024013G>TCA399984386MAPTc.1081G>T (p.Ala361Ser)
c.994G>T (p.Ala332Ser)
c.1168G>T (p.Ala390Ser)
n.394G>T
n.352G>T
n.586G>T
c.2344G>T (p.Ala782Ser)
c.2053G>T (p.Ala685Ser)
c.988G>T (p.Ala330Ser)
c.1117G>T (p.Ala373Ser)
c.2119G>T (p.Ala707Ser)
c.901G>T (p.Ala301Ser)
c.2173G>T (p.Ala725Ser)
c.1075G>T (p.Ala359Ser)
n.6360G>T
c.2431G>T (p.Ala811Ser)
c.2338G>T (p.Ala780Ser)
c.2257G>T (p.Ala753Ser)
c.2233G>T (p.Ala745Ser)
c.2140G>T (p.Ala714Ser)
c.1366G>T (p.Ala456Ser)
c.1279G>T (p.Ala427Ser)
c.1192G>T (p.Ala398Ser)
c.772-1104G>T (n.772-1104G>T)
n.999G>T
17g.46024014C>ACA399984388MAPTc.1082C>A (p.Ala361Glu)
c.995C>A (p.Ala332Glu)
c.1169C>A (p.Ala390Glu)
n.395C>A
n.353C>A
n.587C>A
c.2345C>A (p.Ala782Glu)
c.2054C>A (p.Ala685Glu)
c.989C>A (p.Ala330Glu)
c.1118C>A (p.Ala373Glu)
c.2120C>A (p.Ala707Glu)
c.902C>A (p.Ala301Glu)
c.2174C>A (p.Ala725Glu)
c.1076C>A (p.Ala359Glu)
n.6361C>A
c.2432C>A (p.Ala811Glu)
c.2339C>A (p.Ala780Glu)
c.2258C>A (p.Ala753Glu)
c.2234C>A (p.Ala745Glu)
c.2141C>A (p.Ala714Glu)
c.1367C>A (p.Ala456Glu)
c.1280C>A (p.Ala427Glu)
c.1193C>A (p.Ala398Glu)
c.772-1103C>A (n.772-1103C>A)
n.1000C>A
17g.46024014C=CA2262106918MAPTc.1082C= (p.Ala361=)
c.995C= (p.Ala332=)
c.1169C= (p.Ala390=)
n.395C=
n.353C=
n.587C=
c.2345C= (p.Ala782=)
c.2054C= (p.Ala685=)
c.989C= (p.Ala330=)
c.1118C= (p.Ala373=)
c.2120C= (p.Ala707=)
c.902C= (p.Ala301=)
c.2174C= (p.Ala725=)
c.1076C= (p.Ala359=)
n.6361C=
c.2432C= (p.Ala811=)
c.2339C= (p.Ala780=)
c.2258C= (p.Ala753=)
c.2234C= (p.Ala745=)
c.2141C= (p.Ala714=)
c.1367C= (p.Ala456=)
c.1280C= (p.Ala427=)
c.1193C= (p.Ala398=)
c.772-1103C= (n.772-1103C=)
n.1000C=
17g.46024014C>GCA399984387MAPTc.1082C>G (p.Ala361Gly)
c.995C>G (p.Ala332Gly)
c.1169C>G (p.Ala390Gly)
n.395C>G
n.353C>G
n.587C>G
c.2345C>G (p.Ala782Gly)
c.2054C>G (p.Ala685Gly)
c.989C>G (p.Ala330Gly)
c.1118C>G (p.Ala373Gly)
c.2120C>G (p.Ala707Gly)
c.902C>G (p.Ala301Gly)
c.2174C>G (p.Ala725Gly)
c.1076C>G (p.Ala359Gly)
n.6361C>G
c.2432C>G (p.Ala811Gly)
c.2339C>G (p.Ala780Gly)
c.2258C>G (p.Ala753Gly)
c.2234C>G (p.Ala745Gly)
c.2141C>G (p.Ala714Gly)
c.1367C>G (p.Ala456Gly)
c.1280C>G (p.Ala427Gly)
c.1193C>G (p.Ala398Gly)
c.772-1103C>G (n.772-1103C>G)
n.1000C>G
17g.46024014C>TCA8618254MAPTc.1082C>T (p.Ala361Val)
c.995C>T (p.Ala332Val)
c.1169C>T (p.Ala390Val)
n.395C>T
n.353C>T
n.587C>T
c.2345C>T (p.Ala782Val)
c.2054C>T (p.Ala685Val)
c.989C>T (p.Ala330Val)
c.1118C>T (p.Ala373Val)
c.2120C>T (p.Ala707Val)
c.902C>T (p.Ala301Val)
c.2174C>T (p.Ala725Val)
c.1076C>T (p.Ala359Val)
n.6361C>T
c.2432C>T (p.Ala811Val)
c.2339C>T (p.Ala780Val)
c.2258C>T (p.Ala753Val)
c.2234C>T (p.Ala745Val)
c.2141C>T (p.Ala714Val)
c.1367C>T (p.Ala456Val)
c.1280C>T (p.Ala427Val)
c.1193C>T (p.Ala398Val)
c.772-1103C>T (n.772-1103C>T)
n.1000C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46024015G>ACA8618255MAPTc.1083G>A (p.Ala361=)
c.996G>A (p.Ala332=)
c.1170G>A (p.Ala390=)
n.396G>A
n.354G>A
n.588G>A
c.2346G>A (p.Ala782=)
c.2055G>A (p.Ala685=)
c.990G>A (p.Ala330=)
c.1119G>A (p.Ala373=)
c.2121G>A (p.Ala707=)
c.903G>A (p.Ala301=)
c.2175G>A (p.Ala725=)
c.1077G>A (p.Ala359=)
n.6362G>A
c.2433G>A (p.Ala811=)
c.2340G>A (p.Ala780=)
c.2259G>A (p.Ala753=)
c.2235G>A (p.Ala745=)
c.2142G>A (p.Ala714=)
c.1368G>A (p.Ala456=)
c.1281G>A (p.Ala427=)
c.1194G>A (p.Ala398=)
c.772-1102G>A (n.772-1102G>A)
n.1001G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46024015G>CCA500371431MAPTc.1083G>C (p.Ala361=)
c.996G>C (p.Ala332=)
c.1170G>C (p.Ala390=)
n.396G>C
n.354G>C
n.588G>C
c.2346G>C (p.Ala782=)
c.2055G>C (p.Ala685=)
c.990G>C (p.Ala330=)
c.1119G>C (p.Ala373=)
c.2121G>C (p.Ala707=)
c.903G>C (p.Ala301=)
c.2175G>C (p.Ala725=)
c.1077G>C (p.Ala359=)
n.6362G>C
c.2433G>C (p.Ala811=)
c.2340G>C (p.Ala780=)
c.2259G>C (p.Ala753=)
c.2235G>C (p.Ala745=)
c.2142G>C (p.Ala714=)
c.1368G>C (p.Ala456=)
c.1281G>C (p.Ala427=)
c.1194G>C (p.Ala398=)
c.772-1102G>C (n.772-1102G>C)
n.1001G>C
17g.46024015G=CA2262106919MAPTc.1083G= (p.Ala361=)
c.996G= (p.Ala332=)
c.1170G= (p.Ala390=)
n.396G=
n.354G=
n.588G=
c.2346G= (p.Ala782=)
c.2055G= (p.Ala685=)
c.990G= (p.Ala330=)
c.1119G= (p.Ala373=)
c.2121G= (p.Ala707=)
c.903G= (p.Ala301=)
c.2175G= (p.Ala725=)
c.1077G= (p.Ala359=)
n.6362G=
c.2433G= (p.Ala811=)
c.2340G= (p.Ala780=)
c.2259G= (p.Ala753=)
c.2235G= (p.Ala745=)
c.2142G= (p.Ala714=)
c.1368G= (p.Ala456=)
c.1281G= (p.Ala427=)
c.1194G= (p.Ala398=)
c.772-1102G= (n.772-1102G=)
n.1001G=
17g.46024015G>TCA500371430MAPTc.1083G>T (p.Ala361=)
c.996G>T (p.Ala332=)
c.1170G>T (p.Ala390=)
n.396G>T
n.354G>T
n.588G>T
c.2346G>T (p.Ala782=)
c.2055G>T (p.Ala685=)
c.990G>T (p.Ala330=)
c.1119G>T (p.Ala373=)
c.2121G>T (p.Ala707=)
c.903G>T (p.Ala301=)
c.2175G>T (p.Ala725=)
c.1077G>T (p.Ala359=)
n.6362G>T
c.2433G>T (p.Ala811=)
c.2340G>T (p.Ala780=)
c.2259G>T (p.Ala753=)
c.2235G>T (p.Ala745=)
c.2142G>T (p.Ala714=)
c.1368G>T (p.Ala456=)
c.1281G>T (p.Ala427=)
c.1194G>T (p.Ala398=)
c.772-1102G>T (n.772-1102G>T)
n.1001G>T
17g.46024016dupCA2840625565MAPTc.1084dup (p.Glu362GlyfsTer?)
c.997dup (p.Glu333GlyfsTer?)
c.1171dup (p.Glu391GlyfsTer?)
n.397dup
n.355dup
n.589dup
c.2347dup (p.Glu783GlyfsTer?)
c.2056dup (p.Glu686GlyfsTer?)
c.991dup (p.Glu331GlyfsTer?)
c.1120dup (p.Glu374GlyfsTer?)
c.2122dup (p.Glu708GlyfsTer?)
c.904dup (p.Glu302GlyfsTer?)
c.2176dup (p.Glu726GlyfsTer?)
c.1078dup (p.Glu360GlyfsTer?)
n.6363dup
c.2434dup (p.Glu812GlyfsTer?)
c.2341dup (p.Glu781GlyfsTer?)
c.2260dup (p.Glu754GlyfsTer?)
c.2236dup (p.Glu746GlyfsTer?)
c.2143dup (p.Glu715GlyfsTer?)
c.1369dup (p.Glu457GlyfsTer?)
c.1282dup (p.Glu428GlyfsTer?)
c.1195dup (p.Glu399GlyfsTer?)
c.772-1101dup (n.772-1101dup)
n.1002dup
17g.46024016G>ACA399984389MAPTc.1084G>A (p.Glu362Lys)
c.997G>A (p.Glu333Lys)
c.1171G>A (p.Glu391Lys)
n.397G>A
n.355G>A
n.589G>A
c.2347G>A (p.Glu783Lys)
c.2056G>A (p.Glu686Lys)
c.991G>A (p.Glu331Lys)
c.1120G>A (p.Glu374Lys)
c.2122G>A (p.Glu708Lys)
c.904G>A (p.Glu302Lys)
c.2176G>A (p.Glu726Lys)
c.1078G>A (p.Glu360Lys)
n.6363G>A
c.2434G>A (p.Glu812Lys)
c.2341G>A (p.Glu781Lys)
c.2260G>A (p.Glu754Lys)
c.2236G>A (p.Glu746Lys)
c.2143G>A (p.Glu715Lys)
c.1369G>A (p.Glu457Lys)
c.1282G>A (p.Glu428Lys)
c.1195G>A (p.Glu399Lys)
c.772-1101G>A (n.772-1101G>A)
n.1002G>A
 COSMIC COSMIC
17g.46024016G>CCA399984390MAPTc.1084G>C (p.Glu362Gln)
c.997G>C (p.Glu333Gln)
c.1171G>C (p.Glu391Gln)
n.397G>C
n.355G>C
n.589G>C
c.2347G>C (p.Glu783Gln)
c.2056G>C (p.Glu686Gln)
c.991G>C (p.Glu331Gln)
c.1120G>C (p.Glu374Gln)
c.2122G>C (p.Glu708Gln)
c.904G>C (p.Glu302Gln)
c.2176G>C (p.Glu726Gln)
c.1078G>C (p.Glu360Gln)
n.6363G>C
c.2434G>C (p.Glu812Gln)
c.2341G>C (p.Glu781Gln)
c.2260G>C (p.Glu754Gln)
c.2236G>C (p.Glu746Gln)
c.2143G>C (p.Glu715Gln)
c.1369G>C (p.Glu457Gln)
c.1282G>C (p.Glu428Gln)
c.1195G>C (p.Glu399Gln)
c.772-1101G>C (n.772-1101G>C)
n.1002G>C
17g.46024016G>TCA399984391MAPTc.1084G>T (p.Glu362Ter)
c.997G>T (p.Glu333Ter)
c.1171G>T (p.Glu391Ter)
n.397G>T
n.355G>T
n.589G>T
c.2347G>T (p.Glu783Ter)
c.2056G>T (p.Glu686Ter)
c.991G>T (p.Glu331Ter)
c.1120G>T (p.Glu374Ter)
c.2122G>T (p.Glu708Ter)
c.904G>T (p.Glu302Ter)
c.2176G>T (p.Glu726Ter)
c.1078G>T (p.Glu360Ter)
n.6363G>T
c.2434G>T (p.Glu812Ter)
c.2341G>T (p.Glu781Ter)
c.2260G>T (p.Glu754Ter)
c.2236G>T (p.Glu746Ter)
c.2143G>T (p.Glu715Ter)
c.1369G>T (p.Glu457Ter)
c.1282G>T (p.Glu428Ter)
c.1195G>T (p.Glu399Ter)
c.772-1101G>T (n.772-1101G>T)
n.1002G>T
17g.46024017A>CCA399984392MAPTc.1085A>C (p.Glu362Ala)
c.998A>C (p.Glu333Ala)
c.1172A>C (p.Glu391Ala)
n.398A>C
n.356A>C
n.590A>C
c.2348A>C (p.Glu783Ala)
c.2057A>C (p.Glu686Ala)
c.992A>C (p.Glu331Ala)
c.1121A>C (p.Glu374Ala)
c.2123A>C (p.Glu708Ala)
c.905A>C (p.Glu302Ala)
c.2177A>C (p.Glu726Ala)
c.1079A>C (p.Glu360Ala)
n.6364A>C
c.2435A>C (p.Glu812Ala)
c.2342A>C (p.Glu781Ala)
c.2261A>C (p.Glu754Ala)
c.2237A>C (p.Glu746Ala)
c.2144A>C (p.Glu715Ala)
c.1370A>C (p.Glu457Ala)
c.1283A>C (p.Glu428Ala)
c.1196A>C (p.Glu399Ala)
c.772-1100A>C (n.772-1100A>C)
n.1003A>C
17g.46024017A>GCA399984393MAPTc.1085A>G (p.Glu362Gly)
c.998A>G (p.Glu333Gly)
c.1172A>G (p.Glu391Gly)
n.398A>G
n.356A>G
n.590A>G
c.2348A>G (p.Glu783Gly)
c.2057A>G (p.Glu686Gly)
c.992A>G (p.Glu331Gly)
c.1121A>G (p.Glu374Gly)
c.2123A>G (p.Glu708Gly)
c.905A>G (p.Glu302Gly)
c.2177A>G (p.Glu726Gly)
c.1079A>G (p.Glu360Gly)
n.6364A>G
c.2435A>G (p.Glu812Gly)
c.2342A>G (p.Glu781Gly)
c.2261A>G (p.Glu754Gly)
c.2237A>G (p.Glu746Gly)
c.2144A>G (p.Glu715Gly)
c.1370A>G (p.Glu457Gly)
c.1283A>G (p.Glu428Gly)
c.1196A>G (p.Glu399Gly)
c.772-1100A>G (n.772-1100A>G)
n.1003A>G
17g.46024017A>TCA399984394MAPTc.1085A>T (p.Glu362Val)
c.998A>T (p.Glu333Val)
c.1172A>T (p.Glu391Val)
n.398A>T
n.356A>T
n.590A>T
c.2348A>T (p.Glu783Val)
c.2057A>T (p.Glu686Val)
c.992A>T (p.Glu331Val)
c.1121A>T (p.Glu374Val)
c.2123A>T (p.Glu708Val)
c.905A>T (p.Glu302Val)
c.2177A>T (p.Glu726Val)
c.1079A>T (p.Glu360Val)
n.6364A>T
c.2435A>T (p.Glu812Val)
c.2342A>T (p.Glu781Val)
c.2261A>T (p.Glu754Val)
c.2237A>T (p.Glu746Val)
c.2144A>T (p.Glu715Val)
c.1370A>T (p.Glu457Val)
c.1283A>T (p.Glu428Val)
c.1196A>T (p.Glu399Val)
c.772-1100A>T (n.772-1100A>T)
n.1003A>T
17g.46024017dupCA2838429067MAPTc.1085dup (p.Ile363AspfsTer?)
c.998dup (p.Ile334AspfsTer?)
c.1172dup (p.Ile392AspfsTer?)
n.398dup
n.356dup
n.590dup
c.2348dup (p.Ile784AspfsTer?)
c.2057dup (p.Ile687AspfsTer?)
c.992dup (p.Ile332AspfsTer?)
c.1121dup (p.Ile375AspfsTer?)
c.2123dup (p.Ile709AspfsTer?)
c.905dup (p.Ile303AspfsTer?)
c.2177dup (p.Ile727AspfsTer?)
c.1079dup (p.Ile361AspfsTer?)
n.6364dup
c.2435dup (p.Ile813AspfsTer?)
c.2342dup (p.Ile782AspfsTer?)
c.2261dup (p.Ile755AspfsTer?)
c.2237dup (p.Ile747AspfsTer?)
c.2144dup (p.Ile716AspfsTer?)
c.1370dup (p.Ile458AspfsTer?)
c.1283dup (p.Ile429AspfsTer?)
c.1196dup (p.Ile400AspfsTer?)
c.772-1100dup (n.772-1100dup)
n.1003dup
17g.46024018G>ACA8618256MAPTc.1086G>A (p.Glu362=)
c.999G>A (p.Glu333=)
c.1173G>A (p.Glu391=)
n.399G>A
n.357G>A
n.591G>A
c.2349G>A (p.Glu783=)
c.2058G>A (p.Glu686=)
c.993G>A (p.Glu331=)
c.1122G>A (p.Glu374=)
c.2124G>A (p.Glu708=)
c.906G>A (p.Glu302=)
c.2178G>A (p.Glu726=)
c.1080G>A (p.Glu360=)
n.6365G>A
c.2436G>A (p.Glu812=)
c.2343G>A (p.Glu781=)
c.2262G>A (p.Glu754=)
c.2238G>A (p.Glu746=)
c.2145G>A (p.Glu715=)
c.1371G>A (p.Glu457=)
c.1284G>A (p.Glu428=)
c.1197G>A (p.Glu399=)
c.772-1099G>A (n.772-1099G>A)
n.1004G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46024018G>CCA399984395MAPTc.1086G>C (p.Glu362Asp)
c.999G>C (p.Glu333Asp)
c.1173G>C (p.Glu391Asp)
n.399G>C
n.357G>C
n.591G>C
c.2349G>C (p.Glu783Asp)
c.2058G>C (p.Glu686Asp)
c.993G>C (p.Glu331Asp)
c.1122G>C (p.Glu374Asp)
c.2124G>C (p.Glu708Asp)
c.906G>C (p.Glu302Asp)
c.2178G>C (p.Glu726Asp)
c.1080G>C (p.Glu360Asp)
n.6365G>C
c.2436G>C (p.Glu812Asp)
c.2343G>C (p.Glu781Asp)
c.2262G>C (p.Glu754Asp)
c.2238G>C (p.Glu746Asp)
c.2145G>C (p.Glu715Asp)
c.1371G>C (p.Glu457Asp)
c.1284G>C (p.Glu428Asp)
c.1197G>C (p.Glu399Asp)
c.772-1099G>C (n.772-1099G>C)
n.1004G>C
17g.46024018G=CA2262106920MAPTc.1086G= (p.Glu362=)
c.999G= (p.Glu333=)
c.1173G= (p.Glu391=)
n.399G=
n.357G=
n.591G=
c.2349G= (p.Glu783=)
c.2058G= (p.Glu686=)
c.993G= (p.Glu331=)
c.1122G= (p.Glu374=)
c.2124G= (p.Glu708=)
c.906G= (p.Glu302=)
c.2178G= (p.Glu726=)
c.1080G= (p.Glu360=)
n.6365G=
c.2436G= (p.Glu812=)
c.2343G= (p.Glu781=)
c.2262G= (p.Glu754=)
c.2238G= (p.Glu746=)
c.2145G= (p.Glu715=)
c.1371G= (p.Glu457=)
c.1284G= (p.Glu428=)
c.1197G= (p.Glu399=)
c.772-1099G= (n.772-1099G=)
n.1004G=
17g.46024018G>TCA399984396MAPTc.1086G>T (p.Glu362Asp)
c.999G>T (p.Glu333Asp)
c.1173G>T (p.Glu391Asp)
n.399G>T
n.357G>T
n.591G>T
c.2349G>T (p.Glu783Asp)
c.2058G>T (p.Glu686Asp)
c.993G>T (p.Glu331Asp)
c.1122G>T (p.Glu374Asp)
c.2124G>T (p.Glu708Asp)
c.906G>T (p.Glu302Asp)
c.2178G>T (p.Glu726Asp)
c.1080G>T (p.Glu360Asp)
n.6365G>T
c.2436G>T (p.Glu812Asp)
c.2343G>T (p.Glu781Asp)
c.2262G>T (p.Glu754Asp)
c.2238G>T (p.Glu746Asp)
c.2145G>T (p.Glu715Asp)
c.1371G>T (p.Glu457Asp)
c.1284G>T (p.Glu428Asp)
c.1197G>T (p.Glu399Asp)
c.772-1099G>T (n.772-1099G>T)
n.1004G>T
 dbSNP gnomAD v2
17g.46024019A=CA2262106921MAPTc.1087A= (p.Ile363=)
c.1000A= (p.Ile334=)
c.1174A= (p.Ile392=)
n.400A=
n.358A=
n.592A=
c.2350A= (p.Ile784=)
c.2059A= (p.Ile687=)
c.994A= (p.Ile332=)
c.1123A= (p.Ile375=)
c.2125A= (p.Ile709=)
c.907A= (p.Ile303=)
c.2179A= (p.Ile727=)
c.1081A= (p.Ile361=)
n.6366A=
c.2437A= (p.Ile813=)
c.2344A= (p.Ile782=)
c.2263A= (p.Ile755=)
c.2239A= (p.Ile747=)
c.2146A= (p.Ile716=)
c.1372A= (p.Ile458=)
c.1285A= (p.Ile429=)
c.1198A= (p.Ile400=)
c.772-1098A= (n.772-1098A=)
n.1005A=
17g.46024019A>CCA399984397MAPTc.1087A>C (p.Ile363Leu)
c.1000A>C (p.Ile334Leu)
c.1174A>C (p.Ile392Leu)
n.400A>C
n.358A>C
n.592A>C
c.2350A>C (p.Ile784Leu)
c.2059A>C (p.Ile687Leu)
c.994A>C (p.Ile332Leu)
c.1123A>C (p.Ile375Leu)
c.2125A>C (p.Ile709Leu)
c.907A>C (p.Ile303Leu)
c.2179A>C (p.Ile727Leu)
c.1081A>C (p.Ile361Leu)
n.6366A>C
c.2437A>C (p.Ile813Leu)
c.2344A>C (p.Ile782Leu)
c.2263A>C (p.Ile755Leu)
c.2239A>C (p.Ile747Leu)
c.2146A>C (p.Ile716Leu)
c.1372A>C (p.Ile458Leu)
c.1285A>C (p.Ile429Leu)
c.1198A>C (p.Ile400Leu)
c.772-1098A>C (n.772-1098A>C)
n.1005A>C
17g.46024019A>GCA291117944MAPTc.1087A>G (p.Ile363Val)
c.1000A>G (p.Ile334Val)
c.1174A>G (p.Ile392Val)
n.400A>G
n.358A>G
n.592A>G
c.2350A>G (p.Ile784Val)
c.2059A>G (p.Ile687Val)
c.994A>G (p.Ile332Val)
c.1123A>G (p.Ile375Val)
c.2125A>G (p.Ile709Val)
c.907A>G (p.Ile303Val)
c.2179A>G (p.Ile727Val)
c.1081A>G (p.Ile361Val)
n.6366A>G
c.2437A>G (p.Ile813Val)
c.2344A>G (p.Ile782Val)
c.2263A>G (p.Ile755Val)
c.2239A>G (p.Ile747Val)
c.2146A>G (p.Ile716Val)
c.1372A>G (p.Ile458Val)
c.1285A>G (p.Ile429Val)
c.1198A>G (p.Ile400Val)
c.772-1098A>G (n.772-1098A>G)
n.1005A>G
 ClinVar dbSNP gnomAD v4
17g.46024019A>TCA399984398MAPTc.1087A>T (p.Ile363Phe)
c.1000A>T (p.Ile334Phe)
c.1174A>T (p.Ile392Phe)
n.400A>T
n.358A>T
n.592A>T
c.2350A>T (p.Ile784Phe)
c.2059A>T (p.Ile687Phe)
c.994A>T (p.Ile332Phe)
c.1123A>T (p.Ile375Phe)
c.2125A>T (p.Ile709Phe)
c.907A>T (p.Ile303Phe)
c.2179A>T (p.Ile727Phe)
c.1081A>T (p.Ile361Phe)
n.6366A>T
c.2437A>T (p.Ile813Phe)
c.2344A>T (p.Ile782Phe)
c.2263A>T (p.Ile755Phe)
c.2239A>T (p.Ile747Phe)
c.2146A>T (p.Ile716Phe)
c.1372A>T (p.Ile458Phe)
c.1285A>T (p.Ile429Phe)
c.1198A>T (p.Ile400Phe)
c.772-1098A>T (n.772-1098A>T)
n.1005A>T
17g.46024020T>ACA399984399MAPTc.1088T>A (p.Ile363Asn)
c.1001T>A (p.Ile334Asn)
c.1175T>A (p.Ile392Asn)
n.401T>A
n.359T>A
n.593T>A
c.2351T>A (p.Ile784Asn)
c.2060T>A (p.Ile687Asn)
c.995T>A (p.Ile332Asn)
c.1124T>A (p.Ile375Asn)
c.2126T>A (p.Ile709Asn)
c.908T>A (p.Ile303Asn)
c.2180T>A (p.Ile727Asn)
c.1082T>A (p.Ile361Asn)
n.6367T>A
c.2438T>A (p.Ile813Asn)
c.2345T>A (p.Ile782Asn)
c.2264T>A (p.Ile755Asn)
c.2240T>A (p.Ile747Asn)
c.2147T>A (p.Ile716Asn)
c.1373T>A (p.Ile458Asn)
c.1286T>A (p.Ile429Asn)
c.1199T>A (p.Ile400Asn)
c.772-1097T>A (n.772-1097T>A)
n.1006T>A
17g.46024020T>CCA399984401MAPTc.1088T>C (p.Ile363Thr)
c.1001T>C (p.Ile334Thr)
c.1175T>C (p.Ile392Thr)
n.401T>C
n.359T>C
n.593T>C
c.2351T>C (p.Ile784Thr)
c.2060T>C (p.Ile687Thr)
c.995T>C (p.Ile332Thr)
c.1124T>C (p.Ile375Thr)
c.2126T>C (p.Ile709Thr)
c.908T>C (p.Ile303Thr)
c.2180T>C (p.Ile727Thr)
c.1082T>C (p.Ile361Thr)
n.6367T>C
c.2438T>C (p.Ile813Thr)
c.2345T>C (p.Ile782Thr)
c.2264T>C (p.Ile755Thr)
c.2240T>C (p.Ile747Thr)
c.2147T>C (p.Ile716Thr)
c.1373T>C (p.Ile458Thr)
c.1286T>C (p.Ile429Thr)
c.1199T>C (p.Ile400Thr)
c.772-1097T>C (n.772-1097T>C)
n.1006T>C
17g.46024020T>GCA399984400MAPTc.1088T>G (p.Ile363Ser)
c.1001T>G (p.Ile334Ser)
c.1175T>G (p.Ile392Ser)
n.401T>G
n.359T>G
n.593T>G
c.2351T>G (p.Ile784Ser)
c.2060T>G (p.Ile687Ser)
c.995T>G (p.Ile332Ser)
c.1124T>G (p.Ile375Ser)
c.2126T>G (p.Ile709Ser)
c.908T>G (p.Ile303Ser)
c.2180T>G (p.Ile727Ser)
c.1082T>G (p.Ile361Ser)
n.6367T>G
c.2438T>G (p.Ile813Ser)
c.2345T>G (p.Ile782Ser)
c.2264T>G (p.Ile755Ser)
c.2240T>G (p.Ile747Ser)
c.2147T>G (p.Ile716Ser)
c.1373T>G (p.Ile458Ser)
c.1286T>G (p.Ile429Ser)
c.1199T>G (p.Ile400Ser)
c.772-1097T>G (n.772-1097T>G)
n.1006T>G
17g.46024021C>ACA500371434MAPTc.1089C>A (p.Ile363=)
c.1002C>A (p.Ile334=)
c.1176C>A (p.Ile392=)
n.402C>A
n.360C>A
n.594C>A
c.2352C>A (p.Ile784=)
c.2061C>A (p.Ile687=)
c.996C>A (p.Ile332=)
c.1125C>A (p.Ile375=)
c.2127C>A (p.Ile709=)
c.909C>A (p.Ile303=)
c.2181C>A (p.Ile727=)
c.1083C>A (p.Ile361=)
n.6368C>A
c.2439C>A (p.Ile813=)
c.2346C>A (p.Ile782=)
c.2265C>A (p.Ile755=)
c.2241C>A (p.Ile747=)
c.2148C>A (p.Ile716=)
c.1374C>A (p.Ile458=)
c.1287C>A (p.Ile429=)
c.1200C>A (p.Ile400=)
c.772-1096C>A (n.772-1096C>A)
n.1007C>A
17g.46024021C=CA2262106922MAPTc.1089C= (p.Ile363=)
c.1002C= (p.Ile334=)
c.1176C= (p.Ile392=)
n.402C=
n.360C=
n.594C=
c.2352C= (p.Ile784=)
c.2061C= (p.Ile687=)
c.996C= (p.Ile332=)
c.1125C= (p.Ile375=)
c.2127C= (p.Ile709=)
c.909C= (p.Ile303=)
c.2181C= (p.Ile727=)
c.1083C= (p.Ile361=)
n.6368C=
c.2439C= (p.Ile813=)
c.2346C= (p.Ile782=)
c.2265C= (p.Ile755=)
c.2241C= (p.Ile747=)
c.2148C= (p.Ile716=)
c.1374C= (p.Ile458=)
c.1287C= (p.Ile429=)
c.1200C= (p.Ile400=)
c.772-1096C= (n.772-1096C=)
n.1007C=
17g.46024021C>GCA399984402MAPTc.1089C>G (p.Ile363Met)
c.1002C>G (p.Ile334Met)
c.1176C>G (p.Ile392Met)
n.402C>G
n.360C>G
n.594C>G
c.2352C>G (p.Ile784Met)
c.2061C>G (p.Ile687Met)
c.996C>G (p.Ile332Met)
c.1125C>G (p.Ile375Met)
c.2127C>G (p.Ile709Met)
c.909C>G (p.Ile303Met)
c.2181C>G (p.Ile727Met)
c.1083C>G (p.Ile361Met)
n.6368C>G
c.2439C>G (p.Ile813Met)
c.2346C>G (p.Ile782Met)
c.2265C>G (p.Ile755Met)
c.2241C>G (p.Ile747Met)
c.2148C>G (p.Ile716Met)
c.1374C>G (p.Ile458Met)
c.1287C>G (p.Ile429Met)
c.1200C>G (p.Ile400Met)
c.772-1096C>G (n.772-1096C>G)
n.1007C>G
17g.46024021C>TCA291117949MAPTc.1089C>T (p.Ile363=)
c.1002C>T (p.Ile334=)
c.1176C>T (p.Ile392=)
n.402C>T
n.360C>T
n.594C>T
c.2352C>T (p.Ile784=)
c.2061C>T (p.Ile687=)
c.996C>T (p.Ile332=)
c.1125C>T (p.Ile375=)
c.2127C>T (p.Ile709=)
c.909C>T (p.Ile303=)
c.2181C>T (p.Ile727=)
c.1083C>T (p.Ile361=)
n.6368C>T
c.2439C>T (p.Ile813=)
c.2346C>T (p.Ile782=)
c.2265C>T (p.Ile755=)
c.2241C>T (p.Ile747=)
c.2148C>T (p.Ile716=)
c.1374C>T (p.Ile458=)
c.1287C>T (p.Ile429=)
c.1200C>T (p.Ile400=)
c.772-1096C>T (n.772-1096C>T)
n.1007C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46024022G>ACA291117964MAPTc.1090G>A (p.Val364Met)
c.1003G>A (p.Val335Met)
c.1177G>A (p.Val393Met)
n.403G>A
n.361G>A
n.595G>A
c.2353G>A (p.Val785Met)
c.2062G>A (p.Val688Met)
c.997G>A (p.Val333Met)
c.1126G>A (p.Val376Met)
c.2128G>A (p.Val710Met)
c.910G>A (p.Val304Met)
c.2182G>A (p.Val728Met)
c.1084G>A (p.Val362Met)
n.6369G>A
c.2440G>A (p.Val814Met)
c.2347G>A (p.Val783Met)
c.2266G>A (p.Val756Met)
c.2242G>A (p.Val748Met)
c.2149G>A (p.Val717Met)
c.1375G>A (p.Val459Met)
c.1288G>A (p.Val430Met)
c.1201G>A (p.Val401Met)
c.772-1095G>A (n.772-1095G>A)
n.1008G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.46024022G>CCA399984403MAPTc.1090G>C (p.Val364Leu)
c.1003G>C (p.Val335Leu)
c.1177G>C (p.Val393Leu)
n.403G>C
n.361G>C
n.595G>C
c.2353G>C (p.Val785Leu)
c.2062G>C (p.Val688Leu)
c.997G>C (p.Val333Leu)
c.1126G>C (p.Val376Leu)
c.2128G>C (p.Val710Leu)
c.910G>C (p.Val304Leu)
c.2182G>C (p.Val728Leu)
c.1084G>C (p.Val362Leu)
n.6369G>C
c.2440G>C (p.Val814Leu)
c.2347G>C (p.Val783Leu)
c.2266G>C (p.Val756Leu)
c.2242G>C (p.Val748Leu)
c.2149G>C (p.Val717Leu)
c.1375G>C (p.Val459Leu)
c.1288G>C (p.Val430Leu)
c.1201G>C (p.Val401Leu)
c.772-1095G>C (n.772-1095G>C)
n.1008G>C
17g.46024022G=CA2262106923MAPTc.1090G= (p.Val364=)
c.1003G= (p.Val335=)
c.1177G= (p.Val393=)
n.403G=
n.361G=
n.595G=
c.2353G= (p.Val785=)
c.2062G= (p.Val688=)
c.997G= (p.Val333=)
c.1126G= (p.Val376=)
c.2128G= (p.Val710=)
c.910G= (p.Val304=)
c.2182G= (p.Val728=)
c.1084G= (p.Val362=)
n.6369G=
c.2440G= (p.Val814=)
c.2347G= (p.Val783=)
c.2266G= (p.Val756=)
c.2242G= (p.Val748=)
c.2149G= (p.Val717=)
c.1375G= (p.Val459=)
c.1288G= (p.Val430=)
c.1201G= (p.Val401=)
c.772-1095G= (n.772-1095G=)
n.1008G=
17g.46024022G>TCA399984404MAPTc.1090G>T (p.Val364Leu)
c.1003G>T (p.Val335Leu)
c.1177G>T (p.Val393Leu)
n.403G>T
n.361G>T
n.595G>T
c.2353G>T (p.Val785Leu)
c.2062G>T (p.Val688Leu)
c.997G>T (p.Val333Leu)
c.1126G>T (p.Val376Leu)
c.2128G>T (p.Val710Leu)
c.910G>T (p.Val304Leu)
c.2182G>T (p.Val728Leu)
c.1084G>T (p.Val362Leu)
n.6369G>T
c.2440G>T (p.Val814Leu)
c.2347G>T (p.Val783Leu)
c.2266G>T (p.Val756Leu)
c.2242G>T (p.Val748Leu)
c.2149G>T (p.Val717Leu)
c.1375G>T (p.Val459Leu)
c.1288G>T (p.Val430Leu)
c.1201G>T (p.Val401Leu)
c.772-1095G>T (n.772-1095G>T)
n.1008G>T
17g.46024023T>ACA399984405MAPTc.1091T>A (p.Val364Glu)
c.1004T>A (p.Val335Glu)
c.1178T>A (p.Val393Glu)
n.404T>A
n.362T>A
n.596T>A
c.2354T>A (p.Val785Glu)
c.2063T>A (p.Val688Glu)
c.998T>A (p.Val333Glu)
c.1127T>A (p.Val376Glu)
c.2129T>A (p.Val710Glu)
c.911T>A (p.Val304Glu)
c.2183T>A (p.Val728Glu)
c.1085T>A (p.Val362Glu)
n.6370T>A
c.2441T>A (p.Val814Glu)
c.2348T>A (p.Val783Glu)
c.2267T>A (p.Val756Glu)
c.2243T>A (p.Val748Glu)
c.2150T>A (p.Val717Glu)
c.1376T>A (p.Val459Glu)
c.1289T>A (p.Val430Glu)
c.1202T>A (p.Val401Glu)
c.772-1094T>A (n.772-1094T>A)
n.1009T>A
17g.46024023T>CCA399984406MAPTc.1091T>C (p.Val364Ala)
c.1004T>C (p.Val335Ala)
c.1178T>C (p.Val393Ala)
n.404T>C
n.362T>C
n.596T>C
c.2354T>C (p.Val785Ala)
c.2063T>C (p.Val688Ala)
c.998T>C (p.Val333Ala)
c.1127T>C (p.Val376Ala)
c.2129T>C (p.Val710Ala)
c.911T>C (p.Val304Ala)
c.2183T>C (p.Val728Ala)
c.1085T>C (p.Val362Ala)
n.6370T>C
c.2441T>C (p.Val814Ala)
c.2348T>C (p.Val783Ala)
c.2267T>C (p.Val756Ala)
c.2243T>C (p.Val748Ala)
c.2150T>C (p.Val717Ala)
c.1376T>C (p.Val459Ala)
c.1289T>C (p.Val430Ala)
c.1202T>C (p.Val401Ala)
c.772-1094T>C (n.772-1094T>C)
n.1009T>C
 COSMIC
17g.46024023T>GCA399984407MAPTc.1091T>G (p.Val364Gly)
c.1004T>G (p.Val335Gly)
c.1178T>G (p.Val393Gly)
n.404T>G
n.362T>G
n.596T>G
c.2354T>G (p.Val785Gly)
c.2063T>G (p.Val688Gly)
c.998T>G (p.Val333Gly)
c.1127T>G (p.Val376Gly)
c.2129T>G (p.Val710Gly)
c.911T>G (p.Val304Gly)
c.2183T>G (p.Val728Gly)
c.1085T>G (p.Val362Gly)
n.6370T>G
c.2441T>G (p.Val814Gly)
c.2348T>G (p.Val783Gly)
c.2267T>G (p.Val756Gly)
c.2243T>G (p.Val748Gly)
c.2150T>G (p.Val717Gly)
c.1376T>G (p.Val459Gly)
c.1289T>G (p.Val430Gly)
c.1202T>G (p.Val401Gly)
c.772-1094T>G (n.772-1094T>G)
n.1009T>G
17g.46024024G>ACA500371437MAPTc.1092G>A (p.Val364=)
c.1005G>A (p.Val335=)
c.1179G>A (p.Val393=)
n.405G>A
n.363G>A
n.597G>A
c.2355G>A (p.Val785=)
c.2064G>A (p.Val688=)
c.999G>A (p.Val333=)
c.1128G>A (p.Val376=)
c.2130G>A (p.Val710=)
c.912G>A (p.Val304=)
c.2184G>A (p.Val728=)
c.1086G>A (p.Val362=)
n.6371G>A
c.2442G>A (p.Val814=)
c.2349G>A (p.Val783=)
c.2268G>A (p.Val756=)
c.2244G>A (p.Val748=)
c.2151G>A (p.Val717=)
c.1377G>A (p.Val459=)
c.1290G>A (p.Val430=)
c.1203G>A (p.Val401=)
c.772-1093G>A (n.772-1093G>A)
n.1010G>A
 dbSNP gnomAD v3 gnomAD v4
17g.46024024G>CCA500371435MAPTc.1092G>C (p.Val364=)
c.1005G>C (p.Val335=)
c.1179G>C (p.Val393=)
n.405G>C
n.363G>C
n.597G>C
c.2355G>C (p.Val785=)
c.2064G>C (p.Val688=)
c.999G>C (p.Val333=)
c.1128G>C (p.Val376=)
c.2130G>C (p.Val710=)
c.912G>C (p.Val304=)
c.2184G>C (p.Val728=)
c.1086G>C (p.Val362=)
n.6371G>C
c.2442G>C (p.Val814=)
c.2349G>C (p.Val783=)
c.2268G>C (p.Val756=)
c.2244G>C (p.Val748=)
c.2151G>C (p.Val717=)
c.1377G>C (p.Val459=)
c.1290G>C (p.Val430=)
c.1203G>C (p.Val401=)
c.772-1093G>C (n.772-1093G>C)
n.1010G>C
17g.46024024G=CA2262106924MAPTc.1092G= (p.Val364=)
c.1005G= (p.Val335=)
c.1179G= (p.Val393=)
n.405G=
n.363G=
n.597G=
c.2355G= (p.Val785=)
c.2064G= (p.Val688=)
c.999G= (p.Val333=)
c.1128G= (p.Val376=)
c.2130G= (p.Val710=)
c.912G= (p.Val304=)
c.2184G= (p.Val728=)
c.1086G= (p.Val362=)
n.6371G=
c.2442G= (p.Val814=)
c.2349G= (p.Val783=)
c.2268G= (p.Val756=)
c.2244G= (p.Val748=)
c.2151G= (p.Val717=)
c.1377G= (p.Val459=)
c.1290G= (p.Val430=)
c.1203G= (p.Val401=)
c.772-1093G= (n.772-1093G=)
n.1010G=
17g.46024024G>TCA500371436MAPTc.1092G>T (p.Val364=)
c.1005G>T (p.Val335=)
c.1179G>T (p.Val393=)
n.405G>T
n.363G>T
n.597G>T
c.2355G>T (p.Val785=)
c.2064G>T (p.Val688=)
c.999G>T (p.Val333=)
c.1128G>T (p.Val376=)
c.2130G>T (p.Val710=)
c.912G>T (p.Val304=)
c.2184G>T (p.Val728=)
c.1086G>T (p.Val362=)
n.6371G>T
c.2442G>T (p.Val814=)
c.2349G>T (p.Val783=)
c.2268G>T (p.Val756=)
c.2244G>T (p.Val748=)
c.2151G>T (p.Val717=)
c.1377G>T (p.Val459=)
c.1290G>T (p.Val430=)
c.1203G>T (p.Val401=)
c.772-1093G>T (n.772-1093G>T)
n.1010G>T
17g.46024025T>ACA399984408MAPTc.1093T>A (p.Tyr365Asn)
c.1006T>A (p.Tyr336Asn)
c.1180T>A (p.Tyr394Asn)
n.406T>A
n.364T>A
n.598T>A
c.2356T>A (p.Tyr786Asn)
c.2065T>A (p.Tyr689Asn)
c.1000T>A (p.Tyr334Asn)
c.1129T>A (p.Tyr377Asn)
c.2131T>A (p.Tyr711Asn)
c.913T>A (p.Tyr305Asn)
c.2185T>A (p.Tyr729Asn)
c.1087T>A (p.Tyr363Asn)
n.6372T>A
c.2443T>A (p.Tyr815Asn)
c.2350T>A (p.Tyr784Asn)
c.2269T>A (p.Tyr757Asn)
c.2245T>A (p.Tyr749Asn)
c.2152T>A (p.Tyr718Asn)
c.1378T>A (p.Tyr460Asn)
c.1291T>A (p.Tyr431Asn)
c.1204T>A (p.Tyr402Asn)
c.772-1092T>A (n.772-1092T>A)
n.1011T>A
17g.46024025T>CCA399984409MAPTc.1093T>C (p.Tyr365His)
c.1006T>C (p.Tyr336His)
c.1180T>C (p.Tyr394His)
n.406T>C
n.364T>C
n.598T>C
c.2356T>C (p.Tyr786His)
c.2065T>C (p.Tyr689His)
c.1000T>C (p.Tyr334His)
c.1129T>C (p.Tyr377His)
c.2131T>C (p.Tyr711His)
c.913T>C (p.Tyr305His)
c.2185T>C (p.Tyr729His)
c.1087T>C (p.Tyr363His)
n.6372T>C
c.2443T>C (p.Tyr815His)
c.2350T>C (p.Tyr784His)
c.2269T>C (p.Tyr757His)
c.2245T>C (p.Tyr749His)
c.2152T>C (p.Tyr718His)
c.1378T>C (p.Tyr460His)
c.1291T>C (p.Tyr431His)
c.1204T>C (p.Tyr402His)
c.772-1092T>C (n.772-1092T>C)
n.1011T>C
17g.46024025T>GCA399984410MAPTc.1093T>G (p.Tyr365Asp)
c.1006T>G (p.Tyr336Asp)
c.1180T>G (p.Tyr394Asp)
n.406T>G
n.364T>G
n.598T>G
c.2356T>G (p.Tyr786Asp)
c.2065T>G (p.Tyr689Asp)
c.1000T>G (p.Tyr334Asp)
c.1129T>G (p.Tyr377Asp)
c.2131T>G (p.Tyr711Asp)
c.913T>G (p.Tyr305Asp)
c.2185T>G (p.Tyr729Asp)
c.1087T>G (p.Tyr363Asp)
n.6372T>G
c.2443T>G (p.Tyr815Asp)
c.2350T>G (p.Tyr784Asp)
c.2269T>G (p.Tyr757Asp)
c.2245T>G (p.Tyr749Asp)
c.2152T>G (p.Tyr718Asp)
c.1378T>G (p.Tyr460Asp)
c.1291T>G (p.Tyr431Asp)
c.1204T>G (p.Tyr402Asp)
c.772-1092T>G (n.772-1092T>G)
n.1011T>G
17g.46024026A>CCA399984412MAPTc.1094A>C (p.Tyr365Ser)
c.1007A>C (p.Tyr336Ser)
c.1181A>C (p.Tyr394Ser)
n.407A>C
n.365A>C
n.599A>C
c.2357A>C (p.Tyr786Ser)
c.2066A>C (p.Tyr689Ser)
c.1001A>C (p.Tyr334Ser)
c.1130A>C (p.Tyr377Ser)
c.2132A>C (p.Tyr711Ser)
c.914A>C (p.Tyr305Ser)
c.2186A>C (p.Tyr729Ser)
c.1088A>C (p.Tyr363Ser)
n.6373A>C
c.2444A>C (p.Tyr815Ser)
c.2351A>C (p.Tyr784Ser)
c.2270A>C (p.Tyr757Ser)
c.2246A>C (p.Tyr749Ser)
c.2153A>C (p.Tyr718Ser)
c.1379A>C (p.Tyr460Ser)
c.1292A>C (p.Tyr431Ser)
c.1205A>C (p.Tyr402Ser)
c.772-1091A>C (n.772-1091A>C)
n.1012A>C
17g.46024026A>GCA399984413MAPTc.1094A>G (p.Tyr365Cys)
c.1007A>G (p.Tyr336Cys)
c.1181A>G (p.Tyr394Cys)
n.407A>G
n.365A>G
n.599A>G
c.2357A>G (p.Tyr786Cys)
c.2066A>G (p.Tyr689Cys)
c.1001A>G (p.Tyr334Cys)
c.1130A>G (p.Tyr377Cys)
c.2132A>G (p.Tyr711Cys)
c.914A>G (p.Tyr305Cys)
c.2186A>G (p.Tyr729Cys)
c.1088A>G (p.Tyr363Cys)
n.6373A>G
c.2444A>G (p.Tyr815Cys)
c.2351A>G (p.Tyr784Cys)
c.2270A>G (p.Tyr757Cys)
c.2246A>G (p.Tyr749Cys)
c.2153A>G (p.Tyr718Cys)
c.1379A>G (p.Tyr460Cys)
c.1292A>G (p.Tyr431Cys)
c.1205A>G (p.Tyr402Cys)
c.772-1091A>G (n.772-1091A>G)
n.1012A>G
17g.46024026A>TCA399984411MAPTc.1094A>T (p.Tyr365Phe)
c.1007A>T (p.Tyr336Phe)
c.1181A>T (p.Tyr394Phe)
n.407A>T
n.365A>T
n.599A>T
c.2357A>T (p.Tyr786Phe)
c.2066A>T (p.Tyr689Phe)
c.1001A>T (p.Tyr334Phe)
c.1130A>T (p.Tyr377Phe)
c.2132A>T (p.Tyr711Phe)
c.914A>T (p.Tyr305Phe)
c.2186A>T (p.Tyr729Phe)
c.1088A>T (p.Tyr363Phe)
n.6373A>T
c.2444A>T (p.Tyr815Phe)
c.2351A>T (p.Tyr784Phe)
c.2270A>T (p.Tyr757Phe)
c.2246A>T (p.Tyr749Phe)
c.2153A>T (p.Tyr718Phe)
c.1379A>T (p.Tyr460Phe)
c.1292A>T (p.Tyr431Phe)
c.1205A>T (p.Tyr402Phe)
c.772-1091A>T (n.772-1091A>T)
n.1012A>T
17g.46024027C>ACA399984415MAPTc.1095C>A (p.Tyr365Ter)
c.1008C>A (p.Tyr336Ter)
c.1182C>A (p.Tyr394Ter)
n.408C>A
n.366C>A
n.600C>A
c.2358C>A (p.Tyr786Ter)
c.2067C>A (p.Tyr689Ter)
c.1002C>A (p.Tyr334Ter)
c.1131C>A (p.Tyr377Ter)
c.2133C>A (p.Tyr711Ter)
c.915C>A (p.Tyr305Ter)
c.2187C>A (p.Tyr729Ter)
c.1089C>A (p.Tyr363Ter)
n.6374C>A
c.2445C>A (p.Tyr815Ter)
c.2352C>A (p.Tyr784Ter)
c.2271C>A (p.Tyr757Ter)
c.2247C>A (p.Tyr749Ter)
c.2154C>A (p.Tyr718Ter)
c.1380C>A (p.Tyr460Ter)
c.1293C>A (p.Tyr431Ter)
c.1206C>A (p.Tyr402Ter)
c.772-1090C>A (n.772-1090C>A)
n.1013C>A
17g.46024027C=CA2262106925MAPTc.1095C= (p.Tyr365=)
c.1008C= (p.Tyr336=)
c.1182C= (p.Tyr394=)
n.408C=
n.366C=
n.600C=
c.2358C= (p.Tyr786=)
c.2067C= (p.Tyr689=)
c.1002C= (p.Tyr334=)
c.1131C= (p.Tyr377=)
c.2133C= (p.Tyr711=)
c.915C= (p.Tyr305=)
c.2187C= (p.Tyr729=)
c.1089C= (p.Tyr363=)
n.6374C=
c.2445C= (p.Tyr815=)
c.2352C= (p.Tyr784=)
c.2271C= (p.Tyr757=)
c.2247C= (p.Tyr749=)
c.2154C= (p.Tyr718=)
c.1380C= (p.Tyr460=)
c.1293C= (p.Tyr431=)
c.1206C= (p.Tyr402=)
c.772-1090C= (n.772-1090C=)
n.1013C=
17g.46024027C>GCA399984414MAPTc.1095C>G (p.Tyr365Ter)
c.1008C>G (p.Tyr336Ter)
c.1182C>G (p.Tyr394Ter)
n.408C>G
n.366C>G
n.600C>G
c.2358C>G (p.Tyr786Ter)
c.2067C>G (p.Tyr689Ter)
c.1002C>G (p.Tyr334Ter)
c.1131C>G (p.Tyr377Ter)
c.2133C>G (p.Tyr711Ter)
c.915C>G (p.Tyr305Ter)
c.2187C>G (p.Tyr729Ter)
c.1089C>G (p.Tyr363Ter)
n.6374C>G
c.2445C>G (p.Tyr815Ter)
c.2352C>G (p.Tyr784Ter)
c.2271C>G (p.Tyr757Ter)
c.2247C>G (p.Tyr749Ter)
c.2154C>G (p.Tyr718Ter)
c.1380C>G (p.Tyr460Ter)
c.1293C>G (p.Tyr431Ter)
c.1206C>G (p.Tyr402Ter)
c.772-1090C>G (n.772-1090C>G)
n.1013C>G
17g.46024027C>TCA8618257MAPTc.1095C>T (p.Tyr365=)
c.1008C>T (p.Tyr336=)
c.1182C>T (p.Tyr394=)
n.408C>T
n.366C>T
n.600C>T
c.2358C>T (p.Tyr786=)
c.2067C>T (p.Tyr689=)
c.1002C>T (p.Tyr334=)
c.1131C>T (p.Tyr377=)
c.2133C>T (p.Tyr711=)
c.915C>T (p.Tyr305=)
c.2187C>T (p.Tyr729=)
c.1089C>T (p.Tyr363=)
n.6374C>T
c.2445C>T (p.Tyr815=)
c.2352C>T (p.Tyr784=)
c.2271C>T (p.Tyr757=)
c.2247C>T (p.Tyr749=)
c.2154C>T (p.Tyr718=)
c.1380C>T (p.Tyr460=)
c.1293C>T (p.Tyr431=)
c.1206C>T (p.Tyr402=)
c.772-1090C>T (n.772-1090C>T)
n.1013C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46024028A>CCA399984416MAPTc.1096A>C (p.Lys366Gln)
c.1009A>C (p.Lys337Gln)
c.1183A>C (p.Lys395Gln)
n.409A>C
n.367A>C
n.601A>C
c.2359A>C (p.Lys787Gln)
c.2068A>C (p.Lys690Gln)
c.1003A>C (p.Lys335Gln)
c.1132A>C (p.Lys378Gln)
c.2134A>C (p.Lys712Gln)
c.916A>C (p.Lys306Gln)
c.2188A>C (p.Lys730Gln)
c.1090A>C (p.Lys364Gln)
n.6375A>C
c.2446A>C (p.Lys816Gln)
c.2353A>C (p.Lys785Gln)
c.2272A>C (p.Lys758Gln)
c.2248A>C (p.Lys750Gln)
c.2155A>C (p.Lys719Gln)
c.1381A>C (p.Lys461Gln)
c.1294A>C (p.Lys432Gln)
c.1207A>C (p.Lys403Gln)
c.772-1089A>C (n.772-1089A>C)
n.1014A>C
17g.46024028A>GCA399984417MAPTc.1096A>G (p.Lys366Glu)
c.1009A>G (p.Lys337Glu)
c.1183A>G (p.Lys395Glu)
n.409A>G
n.367A>G
n.601A>G
c.2359A>G (p.Lys787Glu)
c.2068A>G (p.Lys690Glu)
c.1003A>G (p.Lys335Glu)
c.1132A>G (p.Lys378Glu)
c.2134A>G (p.Lys712Glu)
c.916A>G (p.Lys306Glu)
c.2188A>G (p.Lys730Glu)
c.1090A>G (p.Lys364Glu)
n.6375A>G
c.2446A>G (p.Lys816Glu)
c.2353A>G (p.Lys785Glu)
c.2272A>G (p.Lys758Glu)
c.2248A>G (p.Lys750Glu)
c.2155A>G (p.Lys719Glu)
c.1381A>G (p.Lys461Glu)
c.1294A>G (p.Lys432Glu)
c.1207A>G (p.Lys403Glu)
c.772-1089A>G (n.772-1089A>G)
n.1014A>G
17g.46024028A>TCA399984418MAPTc.1096A>T (p.Lys366Ter)
c.1009A>T (p.Lys337Ter)
c.1183A>T (p.Lys395Ter)
n.409A>T
n.367A>T
n.601A>T
c.2359A>T (p.Lys787Ter)
c.2068A>T (p.Lys690Ter)
c.1003A>T (p.Lys335Ter)
c.1132A>T (p.Lys378Ter)
c.2134A>T (p.Lys712Ter)
c.916A>T (p.Lys306Ter)
c.2188A>T (p.Lys730Ter)
c.1090A>T (p.Lys364Ter)
n.6375A>T
c.2446A>T (p.Lys816Ter)
c.2353A>T (p.Lys785Ter)
c.2272A>T (p.Lys758Ter)
c.2248A>T (p.Lys750Ter)
c.2155A>T (p.Lys719Ter)
c.1381A>T (p.Lys461Ter)
c.1294A>T (p.Lys432Ter)
c.1207A>T (p.Lys403Ter)
c.772-1089A>T (n.772-1089A>T)
n.1014A>T
17g.46024029A>CCA399984419MAPTc.1097A>C (p.Lys366Thr)
c.1010A>C (p.Lys337Thr)
c.1184A>C (p.Lys395Thr)
n.410A>C
n.368A>C
n.602A>C
c.2360A>C (p.Lys787Thr)
c.2069A>C (p.Lys690Thr)
c.1004A>C (p.Lys335Thr)
c.1133A>C (p.Lys378Thr)
c.2135A>C (p.Lys712Thr)
c.917A>C (p.Lys306Thr)
c.2189A>C (p.Lys730Thr)
c.1091A>C (p.Lys364Thr)
n.6376A>C
c.2447A>C (p.Lys816Thr)
c.2354A>C (p.Lys785Thr)
c.2273A>C (p.Lys758Thr)
c.2249A>C (p.Lys750Thr)
c.2156A>C (p.Lys719Thr)
c.1382A>C (p.Lys461Thr)
c.1295A>C (p.Lys432Thr)
c.1208A>C (p.Lys403Thr)
c.772-1088A>C (n.772-1088A>C)
n.1015A>C
17g.46024029A>GCA399984420MAPTc.1097A>G (p.Lys366Arg)
c.1010A>G (p.Lys337Arg)
c.1184A>G (p.Lys395Arg)
n.410A>G
n.368A>G
n.602A>G
c.2360A>G (p.Lys787Arg)
c.2069A>G (p.Lys690Arg)
c.1004A>G (p.Lys335Arg)
c.1133A>G (p.Lys378Arg)
c.2135A>G (p.Lys712Arg)
c.917A>G (p.Lys306Arg)
c.2189A>G (p.Lys730Arg)
c.1091A>G (p.Lys364Arg)
n.6376A>G
c.2447A>G (p.Lys816Arg)
c.2354A>G (p.Lys785Arg)
c.2273A>G (p.Lys758Arg)
c.2249A>G (p.Lys750Arg)
c.2156A>G (p.Lys719Arg)
c.1382A>G (p.Lys461Arg)
c.1295A>G (p.Lys432Arg)
c.1208A>G (p.Lys403Arg)
c.772-1088A>G (n.772-1088A>G)
n.1015A>G
17g.46024029A>TCA399984421MAPTc.1097A>T (p.Lys366Met)
c.1010A>T (p.Lys337Met)
c.1184A>T (p.Lys395Met)
n.410A>T
n.368A>T
n.602A>T
c.2360A>T (p.Lys787Met)
c.2069A>T (p.Lys690Met)
c.1004A>T (p.Lys335Met)
c.1133A>T (p.Lys378Met)
c.2135A>T (p.Lys712Met)
c.917A>T (p.Lys306Met)
c.2189A>T (p.Lys730Met)
c.1091A>T (p.Lys364Met)
n.6376A>T
c.2447A>T (p.Lys816Met)
c.2354A>T (p.Lys785Met)
c.2273A>T (p.Lys758Met)
c.2249A>T (p.Lys750Met)
c.2156A>T (p.Lys719Met)
c.1382A>T (p.Lys461Met)
c.1295A>T (p.Lys432Met)
c.1208A>T (p.Lys403Met)
c.772-1088A>T (n.772-1088A>T)
n.1015A>T
17g.46024030G>ACA500371449MAPTc.1098G>A (p.Lys366=)
c.1011G>A (p.Lys337=)
c.1185G>A (p.Lys395=)
n.411G>A
n.369G>A
n.603G>A
c.2361G>A (p.Lys787=)
c.2070G>A (p.Lys690=)
c.1005G>A (p.Lys335=)
c.1134G>A (p.Lys378=)
c.2136G>A (p.Lys712=)
c.918G>A (p.Lys306=)
c.2190G>A (p.Lys730=)
c.1092G>A (p.Lys364=)
n.6377G>A
c.2448G>A (p.Lys816=)
c.2355G>A (p.Lys785=)
c.2274G>A (p.Lys758=)
c.2250G>A (p.Lys750=)
c.2157G>A (p.Lys719=)
c.1383G>A (p.Lys461=)
c.1296G>A (p.Lys432=)
c.1209G>A (p.Lys403=)
c.772-1087G>A (n.772-1087G>A)
n.1016G>A
 dbSNP gnomAD v3 gnomAD v4
17g.46024030G>CCA399984422MAPTc.1098G>C (p.Lys366Asn)
c.1011G>C (p.Lys337Asn)
c.1185G>C (p.Lys395Asn)
n.411G>C
n.369G>C
n.603G>C
c.2361G>C (p.Lys787Asn)
c.2070G>C (p.Lys690Asn)
c.1005G>C (p.Lys335Asn)
c.1134G>C (p.Lys378Asn)
c.2136G>C (p.Lys712Asn)
c.918G>C (p.Lys306Asn)
c.2190G>C (p.Lys730Asn)
c.1092G>C (p.Lys364Asn)
n.6377G>C
c.2448G>C (p.Lys816Asn)
c.2355G>C (p.Lys785Asn)
c.2274G>C (p.Lys758Asn)
c.2250G>C (p.Lys750Asn)
c.2157G>C (p.Lys719Asn)
c.1383G>C (p.Lys461Asn)
c.1296G>C (p.Lys432Asn)
c.1209G>C (p.Lys403Asn)
c.772-1087G>C (n.772-1087G>C)
n.1016G>C
17g.46024030G=CA2262106926MAPTc.1098G= (p.Lys366=)
c.1011G= (p.Lys337=)
c.1185G= (p.Lys395=)
n.411G=
n.369G=
n.603G=
c.2361G= (p.Lys787=)
c.2070G= (p.Lys690=)
c.1005G= (p.Lys335=)
c.1134G= (p.Lys378=)
c.2136G= (p.Lys712=)
c.918G= (p.Lys306=)
c.2190G= (p.Lys730=)
c.1092G= (p.Lys364=)
n.6377G=
c.2448G= (p.Lys816=)
c.2355G= (p.Lys785=)
c.2274G= (p.Lys758=)
c.2250G= (p.Lys750=)
c.2157G= (p.Lys719=)
c.1383G= (p.Lys461=)
c.1296G= (p.Lys432=)
c.1209G= (p.Lys403=)
c.772-1087G= (n.772-1087G=)
n.1016G=
17g.46024030G>TCA399984423MAPTc.1098G>T (p.Lys366Asn)
c.1011G>T (p.Lys337Asn)
c.1185G>T (p.Lys395Asn)
n.411G>T
n.369G>T
n.603G>T
c.2361G>T (p.Lys787Asn)
c.2070G>T (p.Lys690Asn)
c.1005G>T (p.Lys335Asn)
c.1134G>T (p.Lys378Asn)
c.2136G>T (p.Lys712Asn)
c.918G>T (p.Lys306Asn)
c.2190G>T (p.Lys730Asn)
c.1092G>T (p.Lys364Asn)
n.6377G>T
c.2448G>T (p.Lys816Asn)
c.2355G>T (p.Lys785Asn)
c.2274G>T (p.Lys758Asn)
c.2250G>T (p.Lys750Asn)
c.2157G>T (p.Lys719Asn)
c.1383G>T (p.Lys461Asn)
c.1296G>T (p.Lys432Asn)
c.1209G>T (p.Lys403Asn)
c.772-1087G>T (n.772-1087G>T)
n.1016G>T
17g.46024031T>ACA399984424MAPTc.1099T>A (p.Ser367Thr)
c.1012T>A (p.Ser338Thr)
c.1186T>A (p.Ser396Thr)
n.412T>A
n.370T>A
n.604T>A
c.2362T>A (p.Ser788Thr)
c.2071T>A (p.Ser691Thr)
c.1006T>A (p.Ser336Thr)
c.1135T>A (p.Ser379Thr)
c.2137T>A (p.Ser713Thr)
c.919T>A (p.Ser307Thr)
c.2191T>A (p.Ser731Thr)
c.1093T>A (p.Ser365Thr)
n.6378T>A
c.2449T>A (p.Ser817Thr)
c.2356T>A (p.Ser786Thr)
c.2275T>A (p.Ser759Thr)
c.2251T>A (p.Ser751Thr)
c.2158T>A (p.Ser720Thr)
c.1384T>A (p.Ser462Thr)
c.1297T>A (p.Ser433Thr)
c.1210T>A (p.Ser404Thr)
c.772-1086T>A (n.772-1086T>A)
n.1017T>A
17g.46024031T>CCA399984425MAPTc.1099T>C (p.Ser367Pro)
c.1012T>C (p.Ser338Pro)
c.1186T>C (p.Ser396Pro)
n.412T>C
n.370T>C
n.604T>C
c.2362T>C (p.Ser788Pro)
c.2071T>C (p.Ser691Pro)
c.1006T>C (p.Ser336Pro)
c.1135T>C (p.Ser379Pro)
c.2137T>C (p.Ser713Pro)
c.919T>C (p.Ser307Pro)
c.2191T>C (p.Ser731Pro)
c.1093T>C (p.Ser365Pro)
n.6378T>C
c.2449T>C (p.Ser817Pro)
c.2356T>C (p.Ser786Pro)
c.2275T>C (p.Ser759Pro)
c.2251T>C (p.Ser751Pro)
c.2158T>C (p.Ser720Pro)
c.1384T>C (p.Ser462Pro)
c.1297T>C (p.Ser433Pro)
c.1210T>C (p.Ser404Pro)
c.772-1086T>C (n.772-1086T>C)
n.1017T>C
17g.46024031T>GCA399984426MAPTc.1099T>G (p.Ser367Ala)
c.1012T>G (p.Ser338Ala)
c.1186T>G (p.Ser396Ala)
n.412T>G
n.370T>G
n.604T>G
c.2362T>G (p.Ser788Ala)
c.2071T>G (p.Ser691Ala)
c.1006T>G (p.Ser336Ala)
c.1135T>G (p.Ser379Ala)
c.2137T>G (p.Ser713Ala)
c.919T>G (p.Ser307Ala)
c.2191T>G (p.Ser731Ala)
c.1093T>G (p.Ser365Ala)
n.6378T>G
c.2449T>G (p.Ser817Ala)
c.2356T>G (p.Ser786Ala)
c.2275T>G (p.Ser759Ala)
c.2251T>G (p.Ser751Ala)
c.2158T>G (p.Ser720Ala)
c.1384T>G (p.Ser462Ala)
c.1297T>G (p.Ser433Ala)
c.1210T>G (p.Ser404Ala)
c.772-1086T>G (n.772-1086T>G)
n.1017T>G
17g.46024032C>ACA399984429MAPTc.1100C>A (p.Ser367Ter)
c.1013C>A (p.Ser338Ter)
c.1187C>A (p.Ser396Ter)
n.413C>A
n.371C>A
n.605C>A
c.2363C>A (p.Ser788Ter)
c.2072C>A (p.Ser691Ter)
c.1007C>A (p.Ser336Ter)
c.1136C>A (p.Ser379Ter)
c.2138C>A (p.Ser713Ter)
c.920C>A (p.Ser307Ter)
c.2192C>A (p.Ser731Ter)
c.1094C>A (p.Ser365Ter)
n.6379C>A
c.2450C>A (p.Ser817Ter)
c.2357C>A (p.Ser786Ter)
c.2276C>A (p.Ser759Ter)
c.2252C>A (p.Ser751Ter)
c.2159C>A (p.Ser720Ter)
c.1385C>A (p.Ser462Ter)
c.1298C>A (p.Ser433Ter)
c.1211C>A (p.Ser404Ter)
c.772-1085C>A (n.772-1085C>A)
n.1018C>A
17g.46024032C=CA2262106927MAPTc.1100C= (p.Ser367=)
c.1013C= (p.Ser338=)
c.1187C= (p.Ser396=)
n.413C=
n.371C=
n.605C=
c.2363C= (p.Ser788=)
c.2072C= (p.Ser691=)
c.1007C= (p.Ser336=)
c.1136C= (p.Ser379=)
c.2138C= (p.Ser713=)
c.920C= (p.Ser307=)
c.2192C= (p.Ser731=)
c.1094C= (p.Ser365=)
n.6379C=
c.2450C= (p.Ser817=)
c.2357C= (p.Ser786=)
c.2276C= (p.Ser759=)
c.2252C= (p.Ser751=)
c.2159C= (p.Ser720=)
c.1385C= (p.Ser462=)
c.1298C= (p.Ser433=)
c.1211C= (p.Ser404=)
c.772-1085C= (n.772-1085C=)
n.1018C=
17g.46024032C>GCA399984428MAPTc.1100C>G (p.Ser367Trp)
c.1013C>G (p.Ser338Trp)
c.1187C>G (p.Ser396Trp)
n.413C>G
n.371C>G
n.605C>G
c.2363C>G (p.Ser788Trp)
c.2072C>G (p.Ser691Trp)
c.1007C>G (p.Ser336Trp)
c.1136C>G (p.Ser379Trp)
c.2138C>G (p.Ser713Trp)
c.920C>G (p.Ser307Trp)
c.2192C>G (p.Ser731Trp)
c.1094C>G (p.Ser365Trp)
n.6379C>G
c.2450C>G (p.Ser817Trp)
c.2357C>G (p.Ser786Trp)
c.2276C>G (p.Ser759Trp)
c.2252C>G (p.Ser751Trp)
c.2159C>G (p.Ser720Trp)
c.1385C>G (p.Ser462Trp)
c.1298C>G (p.Ser433Trp)
c.1211C>G (p.Ser404Trp)
c.772-1085C>G (n.772-1085C>G)
n.1018C>G
17g.46024032C>TCA399984427MAPTc.1100C>T (p.Ser367Leu)
c.1013C>T (p.Ser338Leu)
c.1187C>T (p.Ser396Leu)
n.413C>T
n.371C>T
n.605C>T
c.2363C>T (p.Ser788Leu)
c.2072C>T (p.Ser691Leu)
c.1007C>T (p.Ser336Leu)
c.1136C>T (p.Ser379Leu)
c.2138C>T (p.Ser713Leu)
c.920C>T (p.Ser307Leu)
c.2192C>T (p.Ser731Leu)
c.1094C>T (p.Ser365Leu)
n.6379C>T
c.2450C>T (p.Ser817Leu)
c.2357C>T (p.Ser786Leu)
c.2276C>T (p.Ser759Leu)
c.2252C>T (p.Ser751Leu)
c.2159C>T (p.Ser720Leu)
c.1385C>T (p.Ser462Leu)
c.1298C>T (p.Ser433Leu)
c.1211C>T (p.Ser404Leu)
c.772-1085C>T (n.772-1085C>T)
n.1018C>T
 dbSNP gnomAD v2 gnomAD v4
17g.46024032_46024033insCCCCCA2525340748MAPTc.1100_1101insCCCC (p.Val369AlafsTer?)
c.1013_1014insCCCC (p.Val340AlafsTer?)
c.1187_1188insCCCC (p.Val398AlafsTer?)
n.413_414insCCCC
n.371_372insCCCC
n.605_606insCCCC
c.2363_2364insCCCC (p.Val790AlafsTer?)
c.2072_2073insCCCC (p.Val693AlafsTer?)
c.1007_1008insCCCC (p.Val338AlafsTer?)
c.1136_1137insCCCC (p.Val381AlafsTer?)
c.2138_2139insCCCC (p.Val715AlafsTer?)
c.920_921insCCCC (p.Val309AlafsTer?)
c.2192_2193insCCCC (p.Val733AlafsTer?)
c.1094_1095insCCCC (p.Val367AlafsTer?)
n.6379_6380insCCCC
c.2450_2451insCCCC (p.Val819AlafsTer?)
c.2357_2358insCCCC (p.Val788AlafsTer?)
c.2276_2277insCCCC (p.Val761AlafsTer?)
c.2252_2253insCCCC (p.Val753AlafsTer?)
c.2159_2160insCCCC (p.Val722AlafsTer?)
c.1385_1386insCCCC (p.Val464AlafsTer?)
c.1298_1299insCCCC (p.Val435AlafsTer?)
c.1211_1212insCCCC (p.Val406AlafsTer?)
c.772-1085_772-1084insCCCC (n.772-1085_772-1084insCCCC)
n.1018_1019insCCCC
17g.46024033G>ACA8618258MAPTc.1101G>A (p.Ser367=)
c.1014G>A (p.Ser338=)
c.1188G>A (p.Ser396=)
n.414G>A
n.372G>A
n.606G>A
c.2364G>A (p.Ser788=)
c.2073G>A (p.Ser691=)
c.1008G>A (p.Ser336=)
c.1137G>A (p.Ser379=)
c.2139G>A (p.Ser713=)
c.921G>A (p.Ser307=)
c.2193G>A (p.Ser731=)
c.1095G>A (p.Ser365=)
n.6380G>A
c.2451G>A (p.Ser817=)
c.2358G>A (p.Ser786=)
c.2277G>A (p.Ser759=)
c.2253G>A (p.Ser751=)
c.2160G>A (p.Ser720=)
c.1386G>A (p.Ser462=)
c.1299G>A (p.Ser433=)
c.1212G>A (p.Ser404=)
c.772-1084G>A (n.772-1084G>A)
n.1019G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46024033G>CCA500371450MAPTc.1101G>C (p.Ser367=)
c.1014G>C (p.Ser338=)
c.1188G>C (p.Ser396=)
n.414G>C
n.372G>C
n.606G>C
c.2364G>C (p.Ser788=)
c.2073G>C (p.Ser691=)
c.1008G>C (p.Ser336=)
c.1137G>C (p.Ser379=)
c.2139G>C (p.Ser713=)
c.921G>C (p.Ser307=)
c.2193G>C (p.Ser731=)
c.1095G>C (p.Ser365=)
n.6380G>C
c.2451G>C (p.Ser817=)
c.2358G>C (p.Ser786=)
c.2277G>C (p.Ser759=)
c.2253G>C (p.Ser751=)
c.2160G>C (p.Ser720=)
c.1386G>C (p.Ser462=)
c.1299G>C (p.Ser433=)
c.1212G>C (p.Ser404=)
c.772-1084G>C (n.772-1084G>C)
n.1019G>C
17g.46024033G=CA2262106928MAPTc.1101G= (p.Ser367=)
c.1014G= (p.Ser338=)
c.1188G= (p.Ser396=)
n.414G=
n.372G=
n.606G=
c.2364G= (p.Ser788=)
c.2073G= (p.Ser691=)
c.1008G= (p.Ser336=)
c.1137G= (p.Ser379=)
c.2139G= (p.Ser713=)
c.921G= (p.Ser307=)
c.2193G= (p.Ser731=)
c.1095G= (p.Ser365=)
n.6380G=
c.2451G= (p.Ser817=)
c.2358G= (p.Ser786=)
c.2277G= (p.Ser759=)
c.2253G= (p.Ser751=)
c.2160G= (p.Ser720=)
c.1386G= (p.Ser462=)
c.1299G= (p.Ser433=)
c.1212G= (p.Ser404=)
c.772-1084G= (n.772-1084G=)
n.1019G=
17g.46024033G>TCA500371451MAPTc.1101G>T (p.Ser367=)
c.1014G>T (p.Ser338=)
c.1188G>T (p.Ser396=)
n.414G>T
n.372G>T
n.606G>T
c.2364G>T (p.Ser788=)
c.2073G>T (p.Ser691=)
c.1008G>T (p.Ser336=)
c.1137G>T (p.Ser379=)
c.2139G>T (p.Ser713=)
c.921G>T (p.Ser307=)
c.2193G>T (p.Ser731=)
c.1095G>T (p.Ser365=)
n.6380G>T
c.2451G>T (p.Ser817=)
c.2358G>T (p.Ser786=)
c.2277G>T (p.Ser759=)
c.2253G>T (p.Ser751=)
c.2160G>T (p.Ser720=)
c.1386G>T (p.Ser462=)
c.1299G>T (p.Ser433=)
c.1212G>T (p.Ser404=)
c.772-1084G>T (n.772-1084G>T)
n.1019G>T
17g.46024034C>ACA399984430MAPTc.1102C>A (p.Pro368Thr)
c.1015C>A (p.Pro339Thr)
c.1189C>A (p.Pro397Thr)
n.415C>A
n.373C>A
n.607C>A
c.2365C>A (p.Pro789Thr)
c.2074C>A (p.Pro692Thr)
c.1009C>A (p.Pro337Thr)
c.1138C>A (p.Pro380Thr)
c.2140C>A (p.Pro714Thr)
c.922C>A (p.Pro308Thr)
c.2194C>A (p.Pro732Thr)
c.1096C>A (p.Pro366Thr)
n.6381C>A
c.2452C>A (p.Pro818Thr)
c.2359C>A (p.Pro787Thr)
c.2278C>A (p.Pro760Thr)
c.2254C>A (p.Pro752Thr)
c.2161C>A (p.Pro721Thr)
c.1387C>A (p.Pro463Thr)
c.1300C>A (p.Pro434Thr)
c.1213C>A (p.Pro405Thr)
c.772-1083C>A (n.772-1083C>A)
n.1020C>A
17g.46024034C=CA2262106929MAPTc.1102C= (p.Pro368=)
c.1015C= (p.Pro339=)
c.1189C= (p.Pro397=)
n.415C=
n.373C=
n.607C=
c.2365C= (p.Pro789=)
c.2074C= (p.Pro692=)
c.1009C= (p.Pro337=)
c.1138C= (p.Pro380=)
c.2140C= (p.Pro714=)
c.922C= (p.Pro308=)
c.2194C= (p.Pro732=)
c.1096C= (p.Pro366=)
n.6381C=
c.2452C= (p.Pro818=)
c.2359C= (p.Pro787=)
c.2278C= (p.Pro760=)
c.2254C= (p.Pro752=)
c.2161C= (p.Pro721=)
c.1387C= (p.Pro463=)
c.1300C= (p.Pro434=)
c.1213C= (p.Pro405=)
c.772-1083C= (n.772-1083C=)
n.1020C=
17g.46024034C>GCA399984431MAPTc.1102C>G (p.Pro368Ala)
c.1015C>G (p.Pro339Ala)
c.1189C>G (p.Pro397Ala)
n.415C>G
n.373C>G
n.607C>G
c.2365C>G (p.Pro789Ala)
c.2074C>G (p.Pro692Ala)
c.1009C>G (p.Pro337Ala)
c.1138C>G (p.Pro380Ala)
c.2140C>G (p.Pro714Ala)
c.922C>G (p.Pro308Ala)
c.2194C>G (p.Pro732Ala)
c.1096C>G (p.Pro366Ala)
n.6381C>G
c.2452C>G (p.Pro818Ala)
c.2359C>G (p.Pro787Ala)
c.2278C>G (p.Pro760Ala)
c.2254C>G (p.Pro752Ala)
c.2161C>G (p.Pro721Ala)
c.1387C>G (p.Pro463Ala)
c.1300C>G (p.Pro434Ala)
c.1213C>G (p.Pro405Ala)
c.772-1083C>G (n.772-1083C>G)
n.1020C>G
 gnomAD v4
17g.46024034C>TCA399984432MAPTc.1102C>T (p.Pro368Ser)
c.1015C>T (p.Pro339Ser)
c.1189C>T (p.Pro397Ser)
n.415C>T
n.373C>T
n.607C>T
c.2365C>T (p.Pro789Ser)
c.2074C>T (p.Pro692Ser)
c.1009C>T (p.Pro337Ser)
c.1138C>T (p.Pro380Ser)
c.2140C>T (p.Pro714Ser)
c.922C>T (p.Pro308Ser)
c.2194C>T (p.Pro732Ser)
c.1096C>T (p.Pro366Ser)
n.6381C>T
c.2452C>T (p.Pro818Ser)
c.2359C>T (p.Pro787Ser)
c.2278C>T (p.Pro760Ser)
c.2254C>T (p.Pro752Ser)
c.2161C>T (p.Pro721Ser)
c.1387C>T (p.Pro463Ser)
c.1300C>T (p.Pro434Ser)
c.1213C>T (p.Pro405Ser)
c.772-1083C>T (n.772-1083C>T)
n.1020C>T
 dbSNP gnomAD v3 gnomAD v4
17g.46024035C>ACA399984433MAPTc.1103C>A (p.Pro368Gln)
c.1016C>A (p.Pro339Gln)
c.1190C>A (p.Pro397Gln)
n.416C>A
n.374C>A
n.608C>A
c.2366C>A (p.Pro789Gln)
c.2075C>A (p.Pro692Gln)
c.1010C>A (p.Pro337Gln)
c.1139C>A (p.Pro380Gln)
c.2141C>A (p.Pro714Gln)
c.923C>A (p.Pro308Gln)
c.2195C>A (p.Pro732Gln)
c.1097C>A (p.Pro366Gln)
n.6382C>A
c.2453C>A (p.Pro818Gln)
c.2360C>A (p.Pro787Gln)
c.2279C>A (p.Pro760Gln)
c.2255C>A (p.Pro752Gln)
c.2162C>A (p.Pro721Gln)
c.1388C>A (p.Pro463Gln)
c.1301C>A (p.Pro434Gln)
c.1214C>A (p.Pro405Gln)
c.772-1082C>A (n.772-1082C>A)
n.1021C>A
17g.46024035C>GCA399984434MAPTc.1103C>G (p.Pro368Arg)
c.1016C>G (p.Pro339Arg)
c.1190C>G (p.Pro397Arg)
n.416C>G
n.374C>G
n.608C>G
c.2366C>G (p.Pro789Arg)
c.2075C>G (p.Pro692Arg)
c.1010C>G (p.Pro337Arg)
c.1139C>G (p.Pro380Arg)
c.2141C>G (p.Pro714Arg)
c.923C>G (p.Pro308Arg)
c.2195C>G (p.Pro732Arg)
c.1097C>G (p.Pro366Arg)
n.6382C>G
c.2453C>G (p.Pro818Arg)
c.2360C>G (p.Pro787Arg)
c.2279C>G (p.Pro760Arg)
c.2255C>G (p.Pro752Arg)
c.2162C>G (p.Pro721Arg)
c.1388C>G (p.Pro463Arg)
c.1301C>G (p.Pro434Arg)
c.1214C>G (p.Pro405Arg)
c.772-1082C>G (n.772-1082C>G)
n.1021C>G
17g.46024035C>TCA399984435MAPTc.1103C>T (p.Pro368Leu)
c.1016C>T (p.Pro339Leu)
c.1190C>T (p.Pro397Leu)
n.416C>T
n.374C>T
n.608C>T
c.2366C>T (p.Pro789Leu)
c.2075C>T (p.Pro692Leu)
c.1010C>T (p.Pro337Leu)
c.1139C>T (p.Pro380Leu)
c.2141C>T (p.Pro714Leu)
c.923C>T (p.Pro308Leu)
c.2195C>T (p.Pro732Leu)
c.1097C>T (p.Pro366Leu)
n.6382C>T
c.2453C>T (p.Pro818Leu)
c.2360C>T (p.Pro787Leu)
c.2279C>T (p.Pro760Leu)
c.2255C>T (p.Pro752Leu)
c.2162C>T (p.Pro721Leu)
c.1388C>T (p.Pro463Leu)
c.1301C>T (p.Pro434Leu)
c.1214C>T (p.Pro405Leu)
c.772-1082C>T (n.772-1082C>T)
n.1021C>T
17g.46024036A=CA2262106930MAPTc.1104A= (p.Pro368=)
c.1017A= (p.Pro339=)
c.1191A= (p.Pro397=)
n.417A=
n.375A=
n.609A=
c.2367A= (p.Pro789=)
c.2076A= (p.Pro692=)
c.1011A= (p.Pro337=)
c.1140A= (p.Pro380=)
c.2142A= (p.Pro714=)
c.924A= (p.Pro308=)
c.2196A= (p.Pro732=)
c.1098A= (p.Pro366=)
n.6383A=
c.2454A= (p.Pro818=)
c.2361A= (p.Pro787=)
c.2280A= (p.Pro760=)
c.2256A= (p.Pro752=)
c.2163A= (p.Pro721=)
c.1389A= (p.Pro463=)
c.1302A= (p.Pro434=)
c.1215A= (p.Pro405=)
c.772-1081A= (n.772-1081A=)
n.1022A=
17g.46024036A>CCA500371454MAPTc.1104A>C (p.Pro368=)
c.1017A>C (p.Pro339=)
c.1191A>C (p.Pro397=)
n.417A>C
n.375A>C
n.609A>C
c.2367A>C (p.Pro789=)
c.2076A>C (p.Pro692=)
c.1011A>C (p.Pro337=)
c.1140A>C (p.Pro380=)
c.2142A>C (p.Pro714=)
c.924A>C (p.Pro308=)
c.2196A>C (p.Pro732=)
c.1098A>C (p.Pro366=)
n.6383A>C
c.2454A>C (p.Pro818=)
c.2361A>C (p.Pro787=)
c.2280A>C (p.Pro760=)
c.2256A>C (p.Pro752=)
c.2163A>C (p.Pro721=)
c.1389A>C (p.Pro463=)
c.1302A>C (p.Pro434=)
c.1215A>C (p.Pro405=)
c.772-1081A>C (n.772-1081A>C)
n.1022A>C
17g.46024036A>GCA500371453MAPTc.1104A>G (p.Pro368=)
c.1017A>G (p.Pro339=)
c.1191A>G (p.Pro397=)
n.417A>G
n.375A>G
n.609A>G
c.2367A>G (p.Pro789=)
c.2076A>G (p.Pro692=)
c.1011A>G (p.Pro337=)
c.1140A>G (p.Pro380=)
c.2142A>G (p.Pro714=)
c.924A>G (p.Pro308=)
c.2196A>G (p.Pro732=)
c.1098A>G (p.Pro366=)
n.6383A>G
c.2454A>G (p.Pro818=)
c.2361A>G (p.Pro787=)
c.2280A>G (p.Pro760=)
c.2256A>G (p.Pro752=)
c.2163A>G (p.Pro721=)
c.1389A>G (p.Pro463=)
c.1302A>G (p.Pro434=)
c.1215A>G (p.Pro405=)
c.772-1081A>G (n.772-1081A>G)
n.1022A>G
 dbSNP
17g.46024036A>TCA500371452MAPTc.1104A>T (p.Pro368=)
c.1017A>T (p.Pro339=)
c.1191A>T (p.Pro397=)
n.417A>T
n.375A>T
n.609A>T
c.2367A>T (p.Pro789=)
c.2076A>T (p.Pro692=)
c.1011A>T (p.Pro337=)
c.1140A>T (p.Pro380=)
c.2142A>T (p.Pro714=)
c.924A>T (p.Pro308=)
c.2196A>T (p.Pro732=)
c.1098A>T (p.Pro366=)
n.6383A>T
c.2454A>T (p.Pro818=)
c.2361A>T (p.Pro787=)
c.2280A>T (p.Pro760=)
c.2256A>T (p.Pro752=)
c.2163A>T (p.Pro721=)
c.1389A>T (p.Pro463=)
c.1302A>T (p.Pro434=)
c.1215A>T (p.Pro405=)
c.772-1081A>T (n.772-1081A>T)
n.1022A>T
17g.46024037G>ACA8618259MAPTc.1105G>A (p.Val369Met)
c.1018G>A (p.Val340Met)
c.1192G>A (p.Val398Met)
n.418G>A
n.376G>A
n.610G>A
c.2368G>A (p.Val790Met)
c.2077G>A (p.Val693Met)
c.1012G>A (p.Val338Met)
c.1141G>A (p.Val381Met)
c.2143G>A (p.Val715Met)
c.925G>A (p.Val309Met)
c.2197G>A (p.Val733Met)
c.1099G>A (p.Val367Met)
n.6384G>A
c.2455G>A (p.Val819Met)
c.2362G>A (p.Val788Met)
c.2281G>A (p.Val761Met)
c.2257G>A (p.Val753Met)
c.2164G>A (p.Val722Met)
c.1390G>A (p.Val464Met)
c.1303G>A (p.Val435Met)
c.1216G>A (p.Val406Met)
c.772-1080G>A (n.772-1080G>A)
n.1023G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46024037G>CCA399984436MAPTc.1105G>C (p.Val369Leu)
c.1018G>C (p.Val340Leu)
c.1192G>C (p.Val398Leu)
n.418G>C
n.376G>C
n.610G>C
c.2368G>C (p.Val790Leu)
c.2077G>C (p.Val693Leu)
c.1012G>C (p.Val338Leu)
c.1141G>C (p.Val381Leu)
c.2143G>C (p.Val715Leu)
c.925G>C (p.Val309Leu)
c.2197G>C (p.Val733Leu)
c.1099G>C (p.Val367Leu)
n.6384G>C
c.2455G>C (p.Val819Leu)
c.2362G>C (p.Val788Leu)
c.2281G>C (p.Val761Leu)
c.2257G>C (p.Val753Leu)
c.2164G>C (p.Val722Leu)
c.1390G>C (p.Val464Leu)
c.1303G>C (p.Val435Leu)
c.1216G>C (p.Val406Leu)
c.772-1080G>C (n.772-1080G>C)
n.1023G>C
17g.46024037G=CA2262106931MAPTc.1105G= (p.Val369=)
c.1018G= (p.Val340=)
c.1192G= (p.Val398=)
n.418G=
n.376G=
n.610G=
c.2368G= (p.Val790=)
c.2077G= (p.Val693=)
c.1012G= (p.Val338=)
c.1141G= (p.Val381=)
c.2143G= (p.Val715=)
c.925G= (p.Val309=)
c.2197G= (p.Val733=)
c.1099G= (p.Val367=)
n.6384G=
c.2455G= (p.Val819=)
c.2362G= (p.Val788=)
c.2281G= (p.Val761=)
c.2257G= (p.Val753=)
c.2164G= (p.Val722=)
c.1390G= (p.Val464=)
c.1303G= (p.Val435=)
c.1216G= (p.Val406=)
c.772-1080G= (n.772-1080G=)
n.1023G=
17g.46024037G>TCA399984437MAPTc.1105G>T (p.Val369Leu)
c.1018G>T (p.Val340Leu)
c.1192G>T (p.Val398Leu)
n.418G>T
n.376G>T
n.610G>T
c.2368G>T (p.Val790Leu)
c.2077G>T (p.Val693Leu)
c.1012G>T (p.Val338Leu)
c.1141G>T (p.Val381Leu)
c.2143G>T (p.Val715Leu)
c.925G>T (p.Val309Leu)
c.2197G>T (p.Val733Leu)
c.1099G>T (p.Val367Leu)
n.6384G>T
c.2455G>T (p.Val819Leu)
c.2362G>T (p.Val788Leu)
c.2281G>T (p.Val761Leu)
c.2257G>T (p.Val753Leu)
c.2164G>T (p.Val722Leu)
c.1390G>T (p.Val464Leu)
c.1303G>T (p.Val435Leu)
c.1216G>T (p.Val406Leu)
c.772-1080G>T (n.772-1080G>T)
n.1023G>T
17g.46024037_46024042delCA2554100730MAPTc.1105_1110del (p.Val369_Val370del)
c.1018_1023del (p.Val340_Val341del)
c.1192_1197del (p.Val398_Val399del)
n.418_423del
n.376_381del
n.610_615del
c.2368_2373del (p.Val790_Val791del)
c.2077_2082del (p.Val693_Val694del)
c.1012_1017del (p.Val338_Val339del)
c.1141_1146del (p.Val381_Val382del)
c.2143_2148del (p.Val715_Val716del)
c.925_930del (p.Val309_Val310del)
c.2197_2202del (p.Val733_Val734del)
c.1099_1104del (p.Val367_Val368del)
n.6384_6389del
c.2455_2460del (p.Val819_Val820del)
c.2362_2367del (p.Val788_Val789del)
c.2281_2286del (p.Val761_Val762del)
c.2257_2262del (p.Val753_Val754del)
c.2164_2169del (p.Val722_Val723del)
c.1390_1395del (p.Val464_Val465del)
c.1303_1308del (p.Val435_Val436del)
c.1216_1221del (p.Val406_Val407del)
c.772-1080_772-1075del (n.772-1080_772-1075del)
n.1023_1028del
17g.46024038T>ACA399984438MAPTc.1106T>A (p.Val369Glu)
c.1019T>A (p.Val340Glu)
c.1193T>A (p.Val398Glu)
n.419T>A
n.377T>A
n.611T>A
c.2369T>A (p.Val790Glu)
c.2078T>A (p.Val693Glu)
c.1013T>A (p.Val338Glu)
c.1142T>A (p.Val381Glu)
c.2144T>A (p.Val715Glu)
c.926T>A (p.Val309Glu)
c.2198T>A (p.Val733Glu)
c.1100T>A (p.Val367Glu)
n.6385T>A
c.2456T>A (p.Val819Glu)
c.2363T>A (p.Val788Glu)
c.2282T>A (p.Val761Glu)
c.2258T>A (p.Val753Glu)
c.2165T>A (p.Val722Glu)
c.1391T>A (p.Val464Glu)
c.1304T>A (p.Val435Glu)
c.1217T>A (p.Val406Glu)
c.772-1079T>A (n.772-1079T>A)
n.1024T>A
17g.46024038T>CCA8618260MAPTc.1106T>C (p.Val369Ala)
c.1019T>C (p.Val340Ala)
c.1193T>C (p.Val398Ala)
n.419T>C
n.377T>C
n.611T>C
c.2369T>C (p.Val790Ala)
c.2078T>C (p.Val693Ala)
c.1013T>C (p.Val338Ala)
c.1142T>C (p.Val381Ala)
c.2144T>C (p.Val715Ala)
c.926T>C (p.Val309Ala)
c.2198T>C (p.Val733Ala)
c.1100T>C (p.Val367Ala)
n.6385T>C
c.2456T>C (p.Val819Ala)
c.2363T>C (p.Val788Ala)
c.2282T>C (p.Val761Ala)
c.2258T>C (p.Val753Ala)
c.2165T>C (p.Val722Ala)
c.1391T>C (p.Val464Ala)
c.1304T>C (p.Val435Ala)
c.1217T>C (p.Val406Ala)
c.772-1079T>C (n.772-1079T>C)
n.1024T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46024038T>GCA399984439MAPTc.1106T>G (p.Val369Gly)
c.1019T>G (p.Val340Gly)
c.1193T>G (p.Val398Gly)
n.419T>G
n.377T>G
n.611T>G
c.2369T>G (p.Val790Gly)
c.2078T>G (p.Val693Gly)
c.1013T>G (p.Val338Gly)
c.1142T>G (p.Val381Gly)
c.2144T>G (p.Val715Gly)
c.926T>G (p.Val309Gly)
c.2198T>G (p.Val733Gly)
c.1100T>G (p.Val367Gly)
n.6385T>G
c.2456T>G (p.Val819Gly)
c.2363T>G (p.Val788Gly)
c.2282T>G (p.Val761Gly)
c.2258T>G (p.Val753Gly)
c.2165T>G (p.Val722Gly)
c.1391T>G (p.Val464Gly)
c.1304T>G (p.Val435Gly)
c.1217T>G (p.Val406Gly)
c.772-1079T>G (n.772-1079T>G)
n.1024T>G
 dbSNP
17g.46024038T=CA2262106932MAPTc.1106T= (p.Val369=)
c.1019T= (p.Val340=)
c.1193T= (p.Val398=)
n.419T=
n.377T=
n.611T=
c.2369T= (p.Val790=)
c.2078T= (p.Val693=)
c.1013T= (p.Val338=)
c.1142T= (p.Val381=)
c.2144T= (p.Val715=)
c.926T= (p.Val309=)
c.2198T= (p.Val733=)
c.1100T= (p.Val367=)
n.6385T=
c.2456T= (p.Val819=)
c.2363T= (p.Val788=)
c.2282T= (p.Val761=)
c.2258T= (p.Val753=)
c.2165T= (p.Val722=)
c.1391T= (p.Val464=)
c.1304T= (p.Val435=)
c.1217T= (p.Val406=)
c.772-1079T= (n.772-1079T=)
n.1024T=
17g.46024039G>ACA500371457MAPTc.1107G>A (p.Val369=)
c.1020G>A (p.Val340=)
c.1194G>A (p.Val398=)
n.420G>A
n.378G>A
n.612G>A
c.2370G>A (p.Val790=)
c.2079G>A (p.Val693=)
c.1014G>A (p.Val338=)
c.1143G>A (p.Val381=)
c.2145G>A (p.Val715=)
c.927G>A (p.Val309=)
c.2199G>A (p.Val733=)
c.1101G>A (p.Val367=)
n.6386G>A
c.2457G>A (p.Val819=)
c.2364G>A (p.Val788=)
c.2283G>A (p.Val761=)
c.2259G>A (p.Val753=)
c.2166G>A (p.Val722=)
c.1392G>A (p.Val464=)
c.1305G>A (p.Val435=)
c.1218G>A (p.Val406=)
c.772-1078G>A (n.772-1078G>A)
n.1025G>A
17g.46024039G>CCA500371456MAPTc.1107G>C (p.Val369=)
c.1020G>C (p.Val340=)
c.1194G>C (p.Val398=)
n.420G>C
n.378G>C
n.612G>C
c.2370G>C (p.Val790=)
c.2079G>C (p.Val693=)
c.1014G>C (p.Val338=)
c.1143G>C (p.Val381=)
c.2145G>C (p.Val715=)
c.927G>C (p.Val309=)
c.2199G>C (p.Val733=)
c.1101G>C (p.Val367=)
n.6386G>C
c.2457G>C (p.Val819=)
c.2364G>C (p.Val788=)
c.2283G>C (p.Val761=)
c.2259G>C (p.Val753=)
c.2166G>C (p.Val722=)
c.1392G>C (p.Val464=)
c.1305G>C (p.Val435=)
c.1218G>C (p.Val406=)
c.772-1078G>C (n.772-1078G>C)
n.1025G>C
17g.46024039G=CA2262106933MAPTc.1107G= (p.Val369=)
c.1020G= (p.Val340=)
c.1194G= (p.Val398=)
n.420G=
n.378G=
n.612G=
c.2370G= (p.Val790=)
c.2079G= (p.Val693=)
c.1014G= (p.Val338=)
c.1143G= (p.Val381=)
c.2145G= (p.Val715=)
c.927G= (p.Val309=)
c.2199G= (p.Val733=)
c.1101G= (p.Val367=)
n.6386G=
c.2457G= (p.Val819=)
c.2364G= (p.Val788=)
c.2283G= (p.Val761=)
c.2259G= (p.Val753=)
c.2166G= (p.Val722=)
c.1392G= (p.Val464=)
c.1305G= (p.Val435=)
c.1218G= (p.Val406=)
c.772-1078G= (n.772-1078G=)
n.1025G=
17g.46024039G>TCA500371455MAPTc.1107G>T (p.Val369=)
c.1020G>T (p.Val340=)
c.1194G>T (p.Val398=)
n.420G>T
n.378G>T
n.612G>T
c.2370G>T (p.Val790=)
c.2079G>T (p.Val693=)
c.1014G>T (p.Val338=)
c.1143G>T (p.Val381=)
c.2145G>T (p.Val715=)
c.927G>T (p.Val309=)
c.2199G>T (p.Val733=)
c.1101G>T (p.Val367=)
n.6386G>T
c.2457G>T (p.Val819=)
c.2364G>T (p.Val788=)
c.2283G>T (p.Val761=)
c.2259G>T (p.Val753=)
c.2166G>T (p.Val722=)
c.1392G>T (p.Val464=)
c.1305G>T (p.Val435=)
c.1218G>T (p.Val406=)
c.772-1078G>T (n.772-1078G>T)
n.1025G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46024040G>ACA399984441MAPTc.1108G>A (p.Val370Met)
c.1021G>A (p.Val341Met)
c.1195G>A (p.Val399Met)
n.421G>A
n.379G>A
n.613G>A
c.2371G>A (p.Val791Met)
c.2080G>A (p.Val694Met)
c.1015G>A (p.Val339Met)
c.1144G>A (p.Val382Met)
c.2146G>A (p.Val716Met)
c.928G>A (p.Val310Met)
c.2200G>A (p.Val734Met)
c.1102G>A (p.Val368Met)
n.6387G>A
c.2458G>A (p.Val820Met)
c.2365G>A (p.Val789Met)
c.2284G>A (p.Val762Met)
c.2260G>A (p.Val754Met)
c.2167G>A (p.Val723Met)
c.1393G>A (p.Val465Met)
c.1306G>A (p.Val436Met)
c.1219G>A (p.Val407Met)
c.772-1077G>A (n.772-1077G>A)
n.1026G>A
 gnomAD v4
17g.46024040G>CCA399984442MAPTc.1108G>C (p.Val370Leu)
c.1021G>C (p.Val341Leu)
c.1195G>C (p.Val399Leu)
n.421G>C
n.379G>C
n.613G>C
c.2371G>C (p.Val791Leu)
c.2080G>C (p.Val694Leu)
c.1015G>C (p.Val339Leu)
c.1144G>C (p.Val382Leu)
c.2146G>C (p.Val716Leu)
c.928G>C (p.Val310Leu)
c.2200G>C (p.Val734Leu)
c.1102G>C (p.Val368Leu)
n.6387G>C
c.2458G>C (p.Val820Leu)
c.2365G>C (p.Val789Leu)
c.2284G>C (p.Val762Leu)
c.2260G>C (p.Val754Leu)
c.2167G>C (p.Val723Leu)
c.1393G>C (p.Val465Leu)
c.1306G>C (p.Val436Leu)
c.1219G>C (p.Val407Leu)
c.772-1077G>C (n.772-1077G>C)
n.1026G>C
17g.46024040G>TCA399984440MAPTc.1108G>T (p.Val370Leu)
c.1021G>T (p.Val341Leu)
c.1195G>T (p.Val399Leu)
n.421G>T
n.379G>T
n.613G>T
c.2371G>T (p.Val791Leu)
c.2080G>T (p.Val694Leu)
c.1015G>T (p.Val339Leu)
c.1144G>T (p.Val382Leu)
c.2146G>T (p.Val716Leu)
c.928G>T (p.Val310Leu)
c.2200G>T (p.Val734Leu)
c.1102G>T (p.Val368Leu)
n.6387G>T
c.2458G>T (p.Val820Leu)
c.2365G>T (p.Val789Leu)
c.2284G>T (p.Val762Leu)
c.2260G>T (p.Val754Leu)
c.2167G>T (p.Val723Leu)
c.1393G>T (p.Val465Leu)
c.1306G>T (p.Val436Leu)
c.1219G>T (p.Val407Leu)
c.772-1077G>T (n.772-1077G>T)
n.1026G>T
17g.46024041T>ACA399984443MAPTc.1109T>A (p.Val370Glu)
c.1022T>A (p.Val341Glu)
c.1196T>A (p.Val399Glu)
n.422T>A
n.380T>A
n.614T>A
c.2372T>A (p.Val791Glu)
c.2081T>A (p.Val694Glu)
c.1016T>A (p.Val339Glu)
c.1145T>A (p.Val382Glu)
c.2147T>A (p.Val716Glu)
c.929T>A (p.Val310Glu)
c.2201T>A (p.Val734Glu)
c.1103T>A (p.Val368Glu)
n.6388T>A
c.2459T>A (p.Val820Glu)
c.2366T>A (p.Val789Glu)
c.2285T>A (p.Val762Glu)
c.2261T>A (p.Val754Glu)
c.2168T>A (p.Val723Glu)
c.1394T>A (p.Val465Glu)
c.1307T>A (p.Val436Glu)
c.1220T>A (p.Val407Glu)
c.772-1076T>A (n.772-1076T>A)
n.1027T>A
17g.46024041T>CCA399984444MAPTc.1109T>C (p.Val370Ala)
c.1022T>C (p.Val341Ala)
c.1196T>C (p.Val399Ala)
n.422T>C
n.380T>C
n.614T>C
c.2372T>C (p.Val791Ala)
c.2081T>C (p.Val694Ala)
c.1016T>C (p.Val339Ala)
c.1145T>C (p.Val382Ala)
c.2147T>C (p.Val716Ala)
c.929T>C (p.Val310Ala)
c.2201T>C (p.Val734Ala)
c.1103T>C (p.Val368Ala)
n.6388T>C
c.2459T>C (p.Val820Ala)
c.2366T>C (p.Val789Ala)
c.2285T>C (p.Val762Ala)
c.2261T>C (p.Val754Ala)
c.2168T>C (p.Val723Ala)
c.1394T>C (p.Val465Ala)
c.1307T>C (p.Val436Ala)
c.1220T>C (p.Val407Ala)
c.772-1076T>C (n.772-1076T>C)
n.1027T>C
17g.46024041T>GCA399984445MAPTc.1109T>G (p.Val370Gly)
c.1022T>G (p.Val341Gly)
c.1196T>G (p.Val399Gly)
n.422T>G
n.380T>G
n.614T>G
c.2372T>G (p.Val791Gly)
c.2081T>G (p.Val694Gly)
c.1016T>G (p.Val339Gly)
c.1145T>G (p.Val382Gly)
c.2147T>G (p.Val716Gly)
c.929T>G (p.Val310Gly)
c.2201T>G (p.Val734Gly)
c.1103T>G (p.Val368Gly)
n.6388T>G
c.2459T>G (p.Val820Gly)
c.2366T>G (p.Val789Gly)
c.2285T>G (p.Val762Gly)
c.2261T>G (p.Val754Gly)
c.2168T>G (p.Val723Gly)
c.1394T>G (p.Val465Gly)
c.1307T>G (p.Val436Gly)
c.1220T>G (p.Val407Gly)
c.772-1076T>G (n.772-1076T>G)
n.1027T>G
17g.46024042G>ACA500371459MAPTc.1110G>A (p.Val370=)
c.1023G>A (p.Val341=)
c.1197G>A (p.Val399=)
n.423G>A
n.381G>A
n.615G>A
c.2373G>A (p.Val791=)
c.2082G>A (p.Val694=)
c.1017G>A (p.Val339=)
c.1146G>A (p.Val382=)
c.2148G>A (p.Val716=)
c.930G>A (p.Val310=)
c.2202G>A (p.Val734=)
c.1104G>A (p.Val368=)
n.6389G>A
c.2460G>A (p.Val820=)
c.2367G>A (p.Val789=)
c.2286G>A (p.Val762=)
c.2262G>A (p.Val754=)
c.2169G>A (p.Val723=)
c.1395G>A (p.Val465=)
c.1308G>A (p.Val436=)
c.1221G>A (p.Val407=)
c.772-1075G>A (n.772-1075G>A)
n.1028G>A
17g.46024042G>CCA500371458MAPTc.1110G>C (p.Val370=)
c.1023G>C (p.Val341=)
c.1197G>C (p.Val399=)
n.423G>C
n.381G>C
n.615G>C
c.2373G>C (p.Val791=)
c.2082G>C (p.Val694=)
c.1017G>C (p.Val339=)
c.1146G>C (p.Val382=)
c.2148G>C (p.Val716=)
c.930G>C (p.Val310=)
c.2202G>C (p.Val734=)
c.1104G>C (p.Val368=)
n.6389G>C
c.2460G>C (p.Val820=)
c.2367G>C (p.Val789=)
c.2286G>C (p.Val762=)
c.2262G>C (p.Val754=)
c.2169G>C (p.Val723=)
c.1395G>C (p.Val465=)
c.1308G>C (p.Val436=)
c.1221G>C (p.Val407=)
c.772-1075G>C (n.772-1075G>C)
n.1028G>C
17g.46024042G>TCA500371460MAPTc.1110G>T (p.Val370=)
c.1023G>T (p.Val341=)
c.1197G>T (p.Val399=)
n.423G>T
n.381G>T
n.615G>T
c.2373G>T (p.Val791=)
c.2082G>T (p.Val694=)
c.1017G>T (p.Val339=)
c.1146G>T (p.Val382=)
c.2148G>T (p.Val716=)
c.930G>T (p.Val310=)
c.2202G>T (p.Val734=)
c.1104G>T (p.Val368=)
n.6389G>T
c.2460G>T (p.Val820=)
c.2367G>T (p.Val789=)
c.2286G>T (p.Val762=)
c.2262G>T (p.Val754=)
c.2169G>T (p.Val723=)
c.1395G>T (p.Val465=)
c.1308G>T (p.Val436=)
c.1221G>T (p.Val407=)
c.772-1075G>T (n.772-1075G>T)
n.1028G>T
17g.46024043T>ACA399984446MAPTc.1111T>A (p.Ser371Thr)
c.1024T>A (p.Ser342Thr)
c.1198T>A (p.Ser400Thr)
n.424T>A
n.382T>A
n.616T>A
c.2374T>A (p.Ser792Thr)
c.2083T>A (p.Ser695Thr)
c.1018T>A (p.Ser340Thr)
c.1147T>A (p.Ser383Thr)
c.2149T>A (p.Ser717Thr)
c.931T>A (p.Ser311Thr)
c.2203T>A (p.Ser735Thr)
c.1105T>A (p.Ser369Thr)
n.6390T>A
c.2461T>A (p.Ser821Thr)
c.2368T>A (p.Ser790Thr)
c.2287T>A (p.Ser763Thr)
c.2263T>A (p.Ser755Thr)
c.2170T>A (p.Ser724Thr)
c.1396T>A (p.Ser466Thr)
c.1309T>A (p.Ser437Thr)
c.1222T>A (p.Ser408Thr)
c.772-1074T>A (n.772-1074T>A)
n.1029T>A
17g.46024043T>CCA399984447MAPTc.1111T>C (p.Ser371Pro)
c.1024T>C (p.Ser342Pro)
c.1198T>C (p.Ser400Pro)
n.424T>C
n.382T>C
n.616T>C
c.2374T>C (p.Ser792Pro)
c.2083T>C (p.Ser695Pro)
c.1018T>C (p.Ser340Pro)
c.1147T>C (p.Ser383Pro)
c.2149T>C (p.Ser717Pro)
c.931T>C (p.Ser311Pro)
c.2203T>C (p.Ser735Pro)
c.1105T>C (p.Ser369Pro)
n.6390T>C
c.2461T>C (p.Ser821Pro)
c.2368T>C (p.Ser790Pro)
c.2287T>C (p.Ser763Pro)
c.2263T>C (p.Ser755Pro)
c.2170T>C (p.Ser724Pro)
c.1396T>C (p.Ser466Pro)
c.1309T>C (p.Ser437Pro)
c.1222T>C (p.Ser408Pro)
c.772-1074T>C (n.772-1074T>C)
n.1029T>C
17g.46024043T>GCA399984448MAPTc.1111T>G (p.Ser371Ala)
c.1024T>G (p.Ser342Ala)
c.1198T>G (p.Ser400Ala)
n.424T>G
n.382T>G
n.616T>G
c.2374T>G (p.Ser792Ala)
c.2083T>G (p.Ser695Ala)
c.1018T>G (p.Ser340Ala)
c.1147T>G (p.Ser383Ala)
c.2149T>G (p.Ser717Ala)
c.931T>G (p.Ser311Ala)
c.2203T>G (p.Ser735Ala)
c.1105T>G (p.Ser369Ala)
n.6390T>G
c.2461T>G (p.Ser821Ala)
c.2368T>G (p.Ser790Ala)
c.2287T>G (p.Ser763Ala)
c.2263T>G (p.Ser755Ala)
c.2170T>G (p.Ser724Ala)
c.1396T>G (p.Ser466Ala)
c.1309T>G (p.Ser437Ala)
c.1222T>G (p.Ser408Ala)
c.772-1074T>G (n.772-1074T>G)
n.1029T>G
17g.46024044C>ACA399984449MAPTc.1112C>A (p.Ser371Tyr)
c.1025C>A (p.Ser342Tyr)
c.1199C>A (p.Ser400Tyr)
n.425C>A
n.383C>A
n.617C>A
c.2375C>A (p.Ser792Tyr)
c.2084C>A (p.Ser695Tyr)
c.1019C>A (p.Ser340Tyr)
c.1148C>A (p.Ser383Tyr)
c.2150C>A (p.Ser717Tyr)
c.932C>A (p.Ser311Tyr)
c.2204C>A (p.Ser735Tyr)
c.1106C>A (p.Ser369Tyr)
n.6391C>A
c.2462C>A (p.Ser821Tyr)
c.2369C>A (p.Ser790Tyr)
c.2288C>A (p.Ser763Tyr)
c.2264C>A (p.Ser755Tyr)
c.2171C>A (p.Ser724Tyr)
c.1397C>A (p.Ser466Tyr)
c.1310C>A (p.Ser437Tyr)
c.1223C>A (p.Ser408Tyr)
c.772-1073C>A (n.772-1073C>A)
n.1030C>A
17g.46024044C>GCA399984450MAPTc.1112C>G (p.Ser371Cys)
c.1025C>G (p.Ser342Cys)
c.1199C>G (p.Ser400Cys)
n.425C>G
n.383C>G
n.617C>G
c.2375C>G (p.Ser792Cys)
c.2084C>G (p.Ser695Cys)
c.1019C>G (p.Ser340Cys)
c.1148C>G (p.Ser383Cys)
c.2150C>G (p.Ser717Cys)
c.932C>G (p.Ser311Cys)
c.2204C>G (p.Ser735Cys)
c.1106C>G (p.Ser369Cys)
n.6391C>G
c.2462C>G (p.Ser821Cys)
c.2369C>G (p.Ser790Cys)
c.2288C>G (p.Ser763Cys)
c.2264C>G (p.Ser755Cys)
c.2171C>G (p.Ser724Cys)
c.1397C>G (p.Ser466Cys)
c.1310C>G (p.Ser437Cys)
c.1223C>G (p.Ser408Cys)
c.772-1073C>G (n.772-1073C>G)
n.1030C>G
 gnomAD v4
17g.46024044C>TCA399984451MAPTc.1112C>T (p.Ser371Phe)
c.1025C>T (p.Ser342Phe)
c.1199C>T (p.Ser400Phe)
n.425C>T
n.383C>T
n.617C>T
c.2375C>T (p.Ser792Phe)
c.2084C>T (p.Ser695Phe)
c.1019C>T (p.Ser340Phe)
c.1148C>T (p.Ser383Phe)
c.2150C>T (p.Ser717Phe)
c.932C>T (p.Ser311Phe)
c.2204C>T (p.Ser735Phe)
c.1106C>T (p.Ser369Phe)
n.6391C>T
c.2462C>T (p.Ser821Phe)
c.2369C>T (p.Ser790Phe)
c.2288C>T (p.Ser763Phe)
c.2264C>T (p.Ser755Phe)
c.2171C>T (p.Ser724Phe)
c.1397C>T (p.Ser466Phe)
c.1310C>T (p.Ser437Phe)
c.1223C>T (p.Ser408Phe)
c.772-1073C>T (n.772-1073C>T)
n.1030C>T
17g.46024045T>ACA500371463MAPTc.1113T>A (p.Ser371=)
c.1026T>A (p.Ser342=)
c.1200T>A (p.Ser400=)
n.426T>A
n.384T>A
n.618T>A
c.2376T>A (p.Ser792=)
c.2085T>A (p.Ser695=)
c.1020T>A (p.Ser340=)
c.1149T>A (p.Ser383=)
c.2151T>A (p.Ser717=)
c.933T>A (p.Ser311=)
c.2205T>A (p.Ser735=)
c.1107T>A (p.Ser369=)
n.6392T>A
c.2463T>A (p.Ser821=)
c.2370T>A (p.Ser790=)
c.2289T>A (p.Ser763=)
c.2265T>A (p.Ser755=)
c.2172T>A (p.Ser724=)
c.1398T>A (p.Ser466=)
c.1311T>A (p.Ser437=)
c.1224T>A (p.Ser408=)
c.772-1072T>A (n.772-1072T>A)
n.1031T>A
17g.46024045T>CCA500371462MAPTc.1113T>C (p.Ser371=)
c.1026T>C (p.Ser342=)
c.1200T>C (p.Ser400=)
n.426T>C
n.384T>C
n.618T>C
c.2376T>C (p.Ser792=)
c.2085T>C (p.Ser695=)
c.1020T>C (p.Ser340=)
c.1149T>C (p.Ser383=)
c.2151T>C (p.Ser717=)
c.933T>C (p.Ser311=)
c.2205T>C (p.Ser735=)
c.1107T>C (p.Ser369=)
n.6392T>C
c.2463T>C (p.Ser821=)
c.2370T>C (p.Ser790=)
c.2289T>C (p.Ser763=)
c.2265T>C (p.Ser755=)
c.2172T>C (p.Ser724=)
c.1398T>C (p.Ser466=)
c.1311T>C (p.Ser437=)
c.1224T>C (p.Ser408=)
c.772-1072T>C (n.772-1072T>C)
n.1031T>C
17g.46024045T>GCA500371461MAPTc.1113T>G (p.Ser371=)
c.1026T>G (p.Ser342=)
c.1200T>G (p.Ser400=)
n.426T>G
n.384T>G
n.618T>G
c.2376T>G (p.Ser792=)
c.2085T>G (p.Ser695=)
c.1020T>G (p.Ser340=)
c.1149T>G (p.Ser383=)
c.2151T>G (p.Ser717=)
c.933T>G (p.Ser311=)
c.2205T>G (p.Ser735=)
c.1107T>G (p.Ser369=)
n.6392T>G
c.2463T>G (p.Ser821=)
c.2370T>G (p.Ser790=)
c.2289T>G (p.Ser763=)
c.2265T>G (p.Ser755=)
c.2172T>G (p.Ser724=)
c.1398T>G (p.Ser466=)
c.1311T>G (p.Ser437=)
c.1224T>G (p.Ser408=)
c.772-1072T>G (n.772-1072T>G)
n.1031T>G
17g.46024045_46024046insCCCA2567727287MAPTc.1113_1114insCC (p.Gly372ProfsTer21)
c.1026_1027insCC (p.Gly343ProfsTer21)
c.1200_1201insCC (p.Gly401ProfsTer21)
n.426_427insCC
n.384_385insCC
n.618_619insCC
c.2376_2377insCC (p.Gly793ProfsTer21)
c.2085_2086insCC (p.Gly696ProfsTer21)
c.1020_1021insCC (p.Gly341ProfsTer21)
c.1149_1150insCC (p.Gly384ProfsTer21)
c.2151_2152insCC (p.Gly718ProfsTer21)
c.933_934insCC (p.Gly312ProfsTer21)
c.2205_2206insCC (p.Gly736ProfsTer21)
c.1107_1108insCC (p.Gly370ProfsTer21)
n.6392_6393insCC
c.2463_2464insCC (p.Gly822ProfsTer21)
c.2370_2371insCC (p.Gly791ProfsTer21)
c.2289_2290insCC (p.Gly764ProfsTer21)
c.2265_2266insCC (p.Gly756ProfsTer21)
c.2172_2173insCC (p.Gly725ProfsTer21)
c.1398_1399insCC (p.Gly467ProfsTer21)
c.1311_1312insCC (p.Gly438ProfsTer21)
c.1224_1225insCC (p.Gly409ProfsTer21)
c.772-1072_772-1071insCC (n.772-1072_772-1071insCC)
n.1031_1032insCC
17g.46024046G>ACA399984452MAPTc.1114G>A (p.Gly372Arg)
c.1027G>A (p.Gly343Arg)
c.1201G>A (p.Gly401Arg)
n.427G>A
n.385G>A
n.619G>A
c.2377G>A (p.Gly793Arg)
c.2086G>A (p.Gly696Arg)
c.1021G>A (p.Gly341Arg)
c.1150G>A (p.Gly384Arg)
c.2152G>A (p.Gly718Arg)
c.934G>A (p.Gly312Arg)
c.2206G>A (p.Gly736Arg)
c.1108G>A (p.Gly370Arg)
n.6393G>A
c.2464G>A (p.Gly822Arg)
c.2371G>A (p.Gly791Arg)
c.2290G>A (p.Gly764Arg)
c.2266G>A (p.Gly756Arg)
c.2173G>A (p.Gly725Arg)
c.1399G>A (p.Gly467Arg)
c.1312G>A (p.Gly438Arg)
c.1225G>A (p.Gly409Arg)
c.772-1071G>A (n.772-1071G>A)
n.1032G>A
17g.46024046G>CCA399984453MAPTc.1114G>C (p.Gly372Arg)
c.1027G>C (p.Gly343Arg)
c.1201G>C (p.Gly401Arg)
n.427G>C
n.385G>C
n.619G>C
c.2377G>C (p.Gly793Arg)
c.2086G>C (p.Gly696Arg)
c.1021G>C (p.Gly341Arg)
c.1150G>C (p.Gly384Arg)
c.2152G>C (p.Gly718Arg)
c.934G>C (p.Gly312Arg)
c.2206G>C (p.Gly736Arg)
c.1108G>C (p.Gly370Arg)
n.6393G>C
c.2464G>C (p.Gly822Arg)
c.2371G>C (p.Gly791Arg)
c.2290G>C (p.Gly764Arg)
c.2266G>C (p.Gly756Arg)
c.2173G>C (p.Gly725Arg)
c.1399G>C (p.Gly467Arg)
c.1312G>C (p.Gly438Arg)
c.1225G>C (p.Gly409Arg)
c.772-1071G>C (n.772-1071G>C)
n.1032G>C
17g.46024046G>TCA399984454MAPTc.1114G>T (p.Gly372Trp)
c.1027G>T (p.Gly343Trp)
c.1201G>T (p.Gly401Trp)
n.427G>T
n.385G>T
n.619G>T
c.2377G>T (p.Gly793Trp)
c.2086G>T (p.Gly696Trp)
c.1021G>T (p.Gly341Trp)
c.1150G>T (p.Gly384Trp)
c.2152G>T (p.Gly718Trp)
c.934G>T (p.Gly312Trp)
c.2206G>T (p.Gly736Trp)
c.1108G>T (p.Gly370Trp)
n.6393G>T
c.2464G>T (p.Gly822Trp)
c.2371G>T (p.Gly791Trp)
c.2290G>T (p.Gly764Trp)
c.2266G>T (p.Gly756Trp)
c.2173G>T (p.Gly725Trp)
c.1399G>T (p.Gly467Trp)
c.1312G>T (p.Gly438Trp)
c.1225G>T (p.Gly409Trp)
c.772-1071G>T (n.772-1071G>T)
n.1032G>T
17g.46024049delCA2839162075MAPTc.1117del (p.Asp373ThrfsTer19)
c.1030del (p.Asp344ThrfsTer19)
c.1204del (p.Asp402ThrfsTer19)
n.430del
n.388del
n.622del
c.2380del (p.Asp794ThrfsTer19)
c.2089del (p.Asp697ThrfsTer19)
c.1024del (p.Asp342ThrfsTer19)
c.1153del (p.Asp385ThrfsTer19)
c.2155del (p.Asp719ThrfsTer19)
c.937del (p.Asp313ThrfsTer19)
c.2209del (p.Asp737ThrfsTer19)
c.1111del (p.Asp371ThrfsTer19)
n.6396del
c.2467del (p.Asp823ThrfsTer19)
c.2374del (p.Asp792ThrfsTer19)
c.2293del (p.Asp765ThrfsTer19)
c.2269del (p.Asp757ThrfsTer19)
c.2176del (p.Asp726ThrfsTer19)
c.1402del (p.Asp468ThrfsTer19)
c.1315del (p.Asp439ThrfsTer19)
c.1228del (p.Asp410ThrfsTer19)
c.772-1068del (n.772-1068del)
n.1035del
17g.46024047G>ACA399984457MAPTc.1115G>A (p.Gly372Glu)
c.1028G>A (p.Gly343Glu)
c.1202G>A (p.Gly401Glu)
n.428G>A
n.386G>A
n.620G>A
c.2378G>A (p.Gly793Glu)
c.2087G>A (p.Gly696Glu)
c.1022G>A (p.Gly341Glu)
c.1151G>A (p.Gly384Glu)
c.2153G>A (p.Gly718Glu)
c.935G>A (p.Gly312Glu)
c.2207G>A (p.Gly736Glu)
c.1109G>A (p.Gly370Glu)
n.6394G>A
c.2465G>A (p.Gly822Glu)
c.2372G>A (p.Gly791Glu)
c.2291G>A (p.Gly764Glu)
c.2267G>A (p.Gly756Glu)
c.2174G>A (p.Gly725Glu)
c.1400G>A (p.Gly467Glu)
c.1313G>A (p.Gly438Glu)
c.1226G>A (p.Gly409Glu)
c.772-1070G>A (n.772-1070G>A)
n.1033G>A
17g.46024047G>CCA399984455MAPTc.1115G>C (p.Gly372Ala)
c.1028G>C (p.Gly343Ala)
c.1202G>C (p.Gly401Ala)
n.428G>C
n.386G>C
n.620G>C
c.2378G>C (p.Gly793Ala)
c.2087G>C (p.Gly696Ala)
c.1022G>C (p.Gly341Ala)
c.1151G>C (p.Gly384Ala)
c.2153G>C (p.Gly718Ala)
c.935G>C (p.Gly312Ala)
c.2207G>C (p.Gly736Ala)
c.1109G>C (p.Gly370Ala)
n.6394G>C
c.2465G>C (p.Gly822Ala)
c.2372G>C (p.Gly791Ala)
c.2291G>C (p.Gly764Ala)
c.2267G>C (p.Gly756Ala)
c.2174G>C (p.Gly725Ala)
c.1400G>C (p.Gly467Ala)
c.1313G>C (p.Gly438Ala)
c.1226G>C (p.Gly409Ala)
c.772-1070G>C (n.772-1070G>C)
n.1033G>C
17g.46024047G>TCA399984456MAPTc.1115G>T (p.Gly372Val)
c.1028G>T (p.Gly343Val)
c.1202G>T (p.Gly401Val)
n.428G>T
n.386G>T
n.620G>T
c.2378G>T (p.Gly793Val)
c.2087G>T (p.Gly696Val)
c.1022G>T (p.Gly341Val)
c.1151G>T (p.Gly384Val)
c.2153G>T (p.Gly718Val)
c.935G>T (p.Gly312Val)
c.2207G>T (p.Gly736Val)
c.1109G>T (p.Gly370Val)
n.6394G>T
c.2465G>T (p.Gly822Val)
c.2372G>T (p.Gly791Val)
c.2291G>T (p.Gly764Val)
c.2267G>T (p.Gly756Val)
c.2174G>T (p.Gly725Val)
c.1400G>T (p.Gly467Val)
c.1313G>T (p.Gly438Val)
c.1226G>T (p.Gly409Val)
c.772-1070G>T (n.772-1070G>T)
n.1033G>T
17g.46024048G>ACA500371466MAPTc.1116G>A (p.Gly372=)
c.1029G>A (p.Gly343=)
c.1203G>A (p.Gly401=)
n.429G>A
n.387G>A
n.621G>A
c.2379G>A (p.Gly793=)
c.2088G>A (p.Gly696=)
c.1023G>A (p.Gly341=)
c.1152G>A (p.Gly384=)
c.2154G>A (p.Gly718=)
c.936G>A (p.Gly312=)
c.2208G>A (p.Gly736=)
c.1110G>A (p.Gly370=)
n.6395G>A
c.2466G>A (p.Gly822=)
c.2373G>A (p.Gly791=)
c.2292G>A (p.Gly764=)
c.2268G>A (p.Gly756=)
c.2175G>A (p.Gly725=)
c.1401G>A (p.Gly467=)
c.1314G>A (p.Gly438=)
c.1227G>A (p.Gly409=)
c.772-1069G>A (n.772-1069G>A)
n.1034G>A
 gnomAD v4
17g.46024048G>CCA500371464MAPTc.1116G>C (p.Gly372=)
c.1029G>C (p.Gly343=)
c.1203G>C (p.Gly401=)
n.429G>C
n.387G>C
n.621G>C
c.2379G>C (p.Gly793=)
c.2088G>C (p.Gly696=)
c.1023G>C (p.Gly341=)
c.1152G>C (p.Gly384=)
c.2154G>C (p.Gly718=)
c.936G>C (p.Gly312=)
c.2208G>C (p.Gly736=)
c.1110G>C (p.Gly370=)
n.6395G>C
c.2466G>C (p.Gly822=)
c.2373G>C (p.Gly791=)
c.2292G>C (p.Gly764=)
c.2268G>C (p.Gly756=)
c.2175G>C (p.Gly725=)
c.1401G>C (p.Gly467=)
c.1314G>C (p.Gly438=)
c.1227G>C (p.Gly409=)
c.772-1069G>C (n.772-1069G>C)
n.1034G>C
17g.46024048G>TCA500371465MAPTc.1116G>T (p.Gly372=)
c.1029G>T (p.Gly343=)
c.1203G>T (p.Gly401=)
n.429G>T
n.387G>T
n.621G>T
c.2379G>T (p.Gly793=)
c.2088G>T (p.Gly696=)
c.1023G>T (p.Gly341=)
c.1152G>T (p.Gly384=)
c.2154G>T (p.Gly718=)
c.936G>T (p.Gly312=)
c.2208G>T (p.Gly736=)
c.1110G>T (p.Gly370=)
n.6395G>T
c.2466G>T (p.Gly822=)
c.2373G>T (p.Gly791=)
c.2292G>T (p.Gly764=)
c.2268G>T (p.Gly756=)
c.2175G>T (p.Gly725=)
c.1401G>T (p.Gly467=)
c.1314G>T (p.Gly438=)
c.1227G>T (p.Gly409=)
c.772-1069G>T (n.772-1069G>T)
n.1034G>T
17g.46024049G>ACA399984458MAPTc.1117G>A (p.Asp373Asn)
c.1030G>A (p.Asp344Asn)
c.1204G>A (p.Asp402Asn)
n.430G>A
n.388G>A
n.622G>A
c.2380G>A (p.Asp794Asn)
c.2089G>A (p.Asp697Asn)
c.1024G>A (p.Asp342Asn)
c.1153G>A (p.Asp385Asn)
c.2155G>A (p.Asp719Asn)
c.937G>A (p.Asp313Asn)
c.2209G>A (p.Asp737Asn)
c.1111G>A (p.Asp371Asn)
n.6396G>A
c.2467G>A (p.Asp823Asn)
c.2374G>A (p.Asp792Asn)
c.2293G>A (p.Asp765Asn)
c.2269G>A (p.Asp757Asn)
c.2176G>A (p.Asp726Asn)
c.1402G>A (p.Asp468Asn)
c.1315G>A (p.Asp439Asn)
c.1228G>A (p.Asp410Asn)
c.772-1068G>A (n.772-1068G>A)
n.1035G>A
 gnomAD v4
17g.46024049G>CCA399984459MAPTc.1117G>C (p.Asp373His)
c.1030G>C (p.Asp344His)
c.1204G>C (p.Asp402His)
n.430G>C
n.388G>C
n.622G>C
c.2380G>C (p.Asp794His)
c.2089G>C (p.Asp697His)
c.1024G>C (p.Asp342His)
c.1153G>C (p.Asp385His)
c.2155G>C (p.Asp719His)
c.937G>C (p.Asp313His)
c.2209G>C (p.Asp737His)
c.1111G>C (p.Asp371His)
n.6396G>C
c.2467G>C (p.Asp823His)
c.2374G>C (p.Asp792His)
c.2293G>C (p.Asp765His)
c.2269G>C (p.Asp757His)
c.2176G>C (p.Asp726His)
c.1402G>C (p.Asp468His)
c.1315G>C (p.Asp439His)
c.1228G>C (p.Asp410His)
c.772-1068G>C (n.772-1068G>C)
n.1035G>C
17g.46024049G>TCA399984460MAPTc.1117G>T (p.Asp373Tyr)
c.1030G>T (p.Asp344Tyr)
c.1204G>T (p.Asp402Tyr)
n.430G>T
n.388G>T
n.622G>T
c.2380G>T (p.Asp794Tyr)
c.2089G>T (p.Asp697Tyr)
c.1024G>T (p.Asp342Tyr)
c.1153G>T (p.Asp385Tyr)
c.2155G>T (p.Asp719Tyr)
c.937G>T (p.Asp313Tyr)
c.2209G>T (p.Asp737Tyr)
c.1111G>T (p.Asp371Tyr)
n.6396G>T
c.2467G>T (p.Asp823Tyr)
c.2374G>T (p.Asp792Tyr)
c.2293G>T (p.Asp765Tyr)
c.2269G>T (p.Asp757Tyr)
c.2176G>T (p.Asp726Tyr)
c.1402G>T (p.Asp468Tyr)
c.1315G>T (p.Asp439Tyr)
c.1228G>T (p.Asp410Tyr)
c.772-1068G>T (n.772-1068G>T)
n.1035G>T
17g.46024050A>CCA399984461MAPTc.1118A>C (p.Asp373Ala)
c.1031A>C (p.Asp344Ala)
c.1205A>C (p.Asp402Ala)
n.431A>C
n.389A>C
n.623A>C
c.2381A>C (p.Asp794Ala)
c.2090A>C (p.Asp697Ala)
c.1025A>C (p.Asp342Ala)
c.1154A>C (p.Asp385Ala)
c.2156A>C (p.Asp719Ala)
c.938A>C (p.Asp313Ala)
c.2210A>C (p.Asp737Ala)
c.1112A>C (p.Asp371Ala)
n.6397A>C
c.2468A>C (p.Asp823Ala)
c.2375A>C (p.Asp792Ala)
c.2294A>C (p.Asp765Ala)
c.2270A>C (p.Asp757Ala)
c.2177A>C (p.Asp726Ala)
c.1403A>C (p.Asp468Ala)
c.1316A>C (p.Asp439Ala)
c.1229A>C (p.Asp410Ala)
c.772-1067A>C (n.772-1067A>C)
n.1036A>C
17g.46024050A>GCA399984462MAPTc.1118A>G (p.Asp373Gly)
c.1031A>G (p.Asp344Gly)
c.1205A>G (p.Asp402Gly)
n.431A>G
n.389A>G
n.623A>G
c.2381A>G (p.Asp794Gly)
c.2090A>G (p.Asp697Gly)
c.1025A>G (p.Asp342Gly)
c.1154A>G (p.Asp385Gly)
c.2156A>G (p.Asp719Gly)
c.938A>G (p.Asp313Gly)
c.2210A>G (p.Asp737Gly)
c.1112A>G (p.Asp371Gly)
n.6397A>G
c.2468A>G (p.Asp823Gly)
c.2375A>G (p.Asp792Gly)
c.2294A>G (p.Asp765Gly)
c.2270A>G (p.Asp757Gly)
c.2177A>G (p.Asp726Gly)
c.1403A>G (p.Asp468Gly)
c.1316A>G (p.Asp439Gly)
c.1229A>G (p.Asp410Gly)
c.772-1067A>G (n.772-1067A>G)
n.1036A>G
17g.46024050A>TCA399984463MAPTc.1118A>T (p.Asp373Val)
c.1031A>T (p.Asp344Val)
c.1205A>T (p.Asp402Val)
n.431A>T
n.389A>T
n.623A>T
c.2381A>T (p.Asp794Val)
c.2090A>T (p.Asp697Val)
c.1025A>T (p.Asp342Val)
c.1154A>T (p.Asp385Val)
c.2156A>T (p.Asp719Val)
c.938A>T (p.Asp313Val)
c.2210A>T (p.Asp737Val)
c.1112A>T (p.Asp371Val)
n.6397A>T
c.2468A>T (p.Asp823Val)
c.2375A>T (p.Asp792Val)
c.2294A>T (p.Asp765Val)
c.2270A>T (p.Asp757Val)
c.2177A>T (p.Asp726Val)
c.1403A>T (p.Asp468Val)
c.1316A>T (p.Asp439Val)
c.1229A>T (p.Asp410Val)
c.772-1067A>T (n.772-1067A>T)
n.1036A>T
17g.46024051C>ACA399984464MAPTc.1119C>A (p.Asp373Glu)
c.1032C>A (p.Asp344Glu)
c.1206C>A (p.Asp402Glu)
n.432C>A
n.390C>A
n.624C>A
c.2382C>A (p.Asp794Glu)
c.2091C>A (p.Asp697Glu)
c.1026C>A (p.Asp342Glu)
c.1155C>A (p.Asp385Glu)
c.2157C>A (p.Asp719Glu)
c.939C>A (p.Asp313Glu)
c.2211C>A (p.Asp737Glu)
c.1113C>A (p.Asp371Glu)
n.6398C>A
c.2469C>A (p.Asp823Glu)
c.2376C>A (p.Asp792Glu)
c.2295C>A (p.Asp765Glu)
c.2271C>A (p.Asp757Glu)
c.2178C>A (p.Asp726Glu)
c.1404C>A (p.Asp468Glu)
c.1317C>A (p.Asp439Glu)
c.1230C>A (p.Asp410Glu)
c.772-1066C>A (n.772-1066C>A)
n.1037C>A
 gnomAD v4
17g.46024051C=CA2262106934MAPTc.1119C= (p.Asp373=)
c.1032C= (p.Asp344=)
c.1206C= (p.Asp402=)
n.432C=
n.390C=
n.624C=
c.2382C= (p.Asp794=)
c.2091C= (p.Asp697=)
c.1026C= (p.Asp342=)
c.1155C= (p.Asp385=)
c.2157C= (p.Asp719=)
c.939C= (p.Asp313=)
c.2211C= (p.Asp737=)
c.1113C= (p.Asp371=)
n.6398C=
c.2469C= (p.Asp823=)
c.2376C= (p.Asp792=)
c.2295C= (p.Asp765=)
c.2271C= (p.Asp757=)
c.2178C= (p.Asp726=)
c.1404C= (p.Asp468=)
c.1317C= (p.Asp439=)
c.1230C= (p.Asp410=)
c.772-1066C= (n.772-1066C=)
n.1037C=
17g.46024051C>GCA399984465MAPTc.1119C>G (p.Asp373Glu)
c.1032C>G (p.Asp344Glu)
c.1206C>G (p.Asp402Glu)
n.432C>G
n.390C>G
n.624C>G
c.2382C>G (p.Asp794Glu)
c.2091C>G (p.Asp697Glu)
c.1026C>G (p.Asp342Glu)
c.1155C>G (p.Asp385Glu)
c.2157C>G (p.Asp719Glu)
c.939C>G (p.Asp313Glu)
c.2211C>G (p.Asp737Glu)
c.1113C>G (p.Asp371Glu)
n.6398C>G
c.2469C>G (p.Asp823Glu)
c.2376C>G (p.Asp792Glu)
c.2295C>G (p.Asp765Glu)
c.2271C>G (p.Asp757Glu)
c.2178C>G (p.Asp726Glu)
c.1404C>G (p.Asp468Glu)
c.1317C>G (p.Asp439Glu)
c.1230C>G (p.Asp410Glu)
c.772-1066C>G (n.772-1066C>G)
n.1037C>G
17g.46024051C>TCA500371467MAPTc.1119C>T (p.Asp373=)
c.1032C>T (p.Asp344=)
c.1206C>T (p.Asp402=)
n.432C>T
n.390C>T
n.624C>T
c.2382C>T (p.Asp794=)
c.2091C>T (p.Asp697=)
c.1026C>T (p.Asp342=)
c.1155C>T (p.Asp385=)
c.2157C>T (p.Asp719=)
c.939C>T (p.Asp313=)
c.2211C>T (p.Asp737=)
c.1113C>T (p.Asp371=)
n.6398C>T
c.2469C>T (p.Asp823=)
c.2376C>T (p.Asp792=)
c.2295C>T (p.Asp765=)
c.2271C>T (p.Asp757=)
c.2178C>T (p.Asp726=)
c.1404C>T (p.Asp468=)
c.1317C>T (p.Asp439=)
c.1230C>T (p.Asp410=)
c.772-1066C>T (n.772-1066C>T)
n.1037C>T
 dbSNP
17g.46024052A>CCA399984466MAPTc.1120A>C (p.Thr374Pro)
c.1033A>C (p.Thr345Pro)
c.1207A>C (p.Thr403Pro)
n.433A>C
n.391A>C
n.625A>C
c.2383A>C (p.Thr795Pro)
c.2092A>C (p.Thr698Pro)
c.1027A>C (p.Thr343Pro)
c.1156A>C (p.Thr386Pro)
c.2158A>C (p.Thr720Pro)
c.940A>C (p.Thr314Pro)
c.2212A>C (p.Thr738Pro)
c.1114A>C (p.Thr372Pro)
n.6399A>C
c.2470A>C (p.Thr824Pro)
c.2377A>C (p.Thr793Pro)
c.2296A>C (p.Thr766Pro)
c.2272A>C (p.Thr758Pro)
c.2179A>C (p.Thr727Pro)
c.1405A>C (p.Thr469Pro)
c.1318A>C (p.Thr440Pro)
c.1231A>C (p.Thr411Pro)
c.772-1065A>C (n.772-1065A>C)
n.1038A>C
17g.46024052A>GCA399984467MAPTc.1120A>G (p.Thr374Ala)
c.1033A>G (p.Thr345Ala)
c.1207A>G (p.Thr403Ala)
n.433A>G
n.391A>G
n.625A>G
c.2383A>G (p.Thr795Ala)
c.2092A>G (p.Thr698Ala)
c.1027A>G (p.Thr343Ala)
c.1156A>G (p.Thr386Ala)
c.2158A>G (p.Thr720Ala)
c.940A>G (p.Thr314Ala)
c.2212A>G (p.Thr738Ala)
c.1114A>G (p.Thr372Ala)
n.6399A>G
c.2470A>G (p.Thr824Ala)
c.2377A>G (p.Thr793Ala)
c.2296A>G (p.Thr766Ala)
c.2272A>G (p.Thr758Ala)
c.2179A>G (p.Thr727Ala)
c.1405A>G (p.Thr469Ala)
c.1318A>G (p.Thr440Ala)
c.1231A>G (p.Thr411Ala)
c.772-1065A>G (n.772-1065A>G)
n.1038A>G
17g.46024052A>TCA399984468MAPTc.1120A>T (p.Thr374Ser)
c.1033A>T (p.Thr345Ser)
c.1207A>T (p.Thr403Ser)
n.433A>T
n.391A>T
n.625A>T
c.2383A>T (p.Thr795Ser)
c.2092A>T (p.Thr698Ser)
c.1027A>T (p.Thr343Ser)
c.1156A>T (p.Thr386Ser)
c.2158A>T (p.Thr720Ser)
c.940A>T (p.Thr314Ser)
c.2212A>T (p.Thr738Ser)
c.1114A>T (p.Thr372Ser)
n.6399A>T
c.2470A>T (p.Thr824Ser)
c.2377A>T (p.Thr793Ser)
c.2296A>T (p.Thr766Ser)
c.2272A>T (p.Thr758Ser)
c.2179A>T (p.Thr727Ser)
c.1405A>T (p.Thr469Ser)
c.1318A>T (p.Thr440Ser)
c.1231A>T (p.Thr411Ser)
c.772-1065A>T (n.772-1065A>T)
n.1038A>T
17g.46024053C>ACA399984470MAPTc.1121C>A (p.Thr374Lys)
c.1034C>A (p.Thr345Lys)
c.1208C>A (p.Thr403Lys)
n.434C>A
n.392C>A
n.626C>A
c.2384C>A (p.Thr795Lys)
c.2093C>A (p.Thr698Lys)
c.1028C>A (p.Thr343Lys)
c.1157C>A (p.Thr386Lys)
c.2159C>A (p.Thr720Lys)
c.941C>A (p.Thr314Lys)
c.2213C>A (p.Thr738Lys)
c.1115C>A (p.Thr372Lys)
n.6400C>A
c.2471C>A (p.Thr824Lys)
c.2378C>A (p.Thr793Lys)
c.2297C>A (p.Thr766Lys)
c.2273C>A (p.Thr758Lys)
c.2180C>A (p.Thr727Lys)
c.1406C>A (p.Thr469Lys)
c.1319C>A (p.Thr440Lys)
c.1232C>A (p.Thr411Lys)
c.772-1064C>A (n.772-1064C>A)
n.1039C>A
17g.46024053C=CA2262106935MAPTc.1121C= (p.Thr374=)
c.1034C= (p.Thr345=)
c.1208C= (p.Thr403=)
n.434C=
n.392C=
n.626C=
c.2384C= (p.Thr795=)
c.2093C= (p.Thr698=)
c.1028C= (p.Thr343=)
c.1157C= (p.Thr386=)
c.2159C= (p.Thr720=)
c.941C= (p.Thr314=)
c.2213C= (p.Thr738=)
c.1115C= (p.Thr372=)
n.6400C=
c.2471C= (p.Thr824=)
c.2378C= (p.Thr793=)
c.2297C= (p.Thr766=)
c.2273C= (p.Thr758=)
c.2180C= (p.Thr727=)
c.1406C= (p.Thr469=)
c.1319C= (p.Thr440=)
c.1232C= (p.Thr411=)
c.772-1064C= (n.772-1064C=)
n.1039C=
17g.46024053C>GCA399984471MAPTc.1121C>G (p.Thr374Arg)
c.1034C>G (p.Thr345Arg)
c.1208C>G (p.Thr403Arg)
n.434C>G
n.392C>G
n.626C>G
c.2384C>G (p.Thr795Arg)
c.2093C>G (p.Thr698Arg)
c.1028C>G (p.Thr343Arg)
c.1157C>G (p.Thr386Arg)
c.2159C>G (p.Thr720Arg)
c.941C>G (p.Thr314Arg)
c.2213C>G (p.Thr738Arg)
c.1115C>G (p.Thr372Arg)
n.6400C>G
c.2471C>G (p.Thr824Arg)
c.2378C>G (p.Thr793Arg)
c.2297C>G (p.Thr766Arg)
c.2273C>G (p.Thr758Arg)
c.2180C>G (p.Thr727Arg)
c.1406C>G (p.Thr469Arg)
c.1319C>G (p.Thr440Arg)
c.1232C>G (p.Thr411Arg)
c.772-1064C>G (n.772-1064C>G)
n.1039C>G
17g.46024053C>TCA399984469MAPTc.1121C>T (p.Thr374Met)
c.1034C>T (p.Thr345Met)
c.1208C>T (p.Thr403Met)
n.434C>T
n.392C>T
n.626C>T
c.2384C>T (p.Thr795Met)
c.2093C>T (p.Thr698Met)
c.1028C>T (p.Thr343Met)
c.1157C>T (p.Thr386Met)
c.2159C>T (p.Thr720Met)
c.941C>T (p.Thr314Met)
c.2213C>T (p.Thr738Met)
c.1115C>T (p.Thr372Met)
n.6400C>T
c.2471C>T (p.Thr824Met)
c.2378C>T (p.Thr793Met)
c.2297C>T (p.Thr766Met)
c.2273C>T (p.Thr758Met)
c.2180C>T (p.Thr727Met)
c.1406C>T (p.Thr469Met)
c.1319C>T (p.Thr440Met)
c.1232C>T (p.Thr411Met)
c.772-1064C>T (n.772-1064C>T)
n.1039C>T
 dbSNP gnomAD v2 gnomAD v4
17g.46024054G>ACA8618261MAPTc.1122G>A (p.Thr374=)
c.1035G>A (p.Thr345=)
c.1209G>A (p.Thr403=)
n.435G>A
n.393G>A
n.627G>A
c.2385G>A (p.Thr795=)
c.2094G>A (p.Thr698=)
c.1029G>A (p.Thr343=)
c.1158G>A (p.Thr386=)
c.2160G>A (p.Thr720=)
c.942G>A (p.Thr314=)
c.2214G>A (p.Thr738=)
c.1116G>A (p.Thr372=)
n.6401G>A
c.2472G>A (p.Thr824=)
c.2379G>A (p.Thr793=)
c.2298G>A (p.Thr766=)
c.2274G>A (p.Thr758=)
c.2181G>A (p.Thr727=)
c.1407G>A (p.Thr469=)
c.1320G>A (p.Thr440=)
c.1233G>A (p.Thr411=)
c.772-1063G>A (n.772-1063G>A)
n.1040G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.46024054G>CCA500371468MAPTc.1122G>C (p.Thr374=)
c.1035G>C (p.Thr345=)
c.1209G>C (p.Thr403=)
n.435G>C
n.393G>C
n.627G>C
c.2385G>C (p.Thr795=)
c.2094G>C (p.Thr698=)
c.1029G>C (p.Thr343=)
c.1158G>C (p.Thr386=)
c.2160G>C (p.Thr720=)
c.942G>C (p.Thr314=)
c.2214G>C (p.Thr738=)
c.1116G>C (p.Thr372=)
n.6401G>C
c.2472G>C (p.Thr824=)
c.2379G>C (p.Thr793=)
c.2298G>C (p.Thr766=)
c.2274G>C (p.Thr758=)
c.2181G>C (p.Thr727=)
c.1407G>C (p.Thr469=)
c.1320G>C (p.Thr440=)
c.1233G>C (p.Thr411=)
c.772-1063G>C (n.772-1063G>C)
n.1040G>C
17g.46024054G=CA2262106936MAPTc.1122G= (p.Thr374=)
c.1035G= (p.Thr345=)
c.1209G= (p.Thr403=)
n.435G=
n.393G=
n.627G=
c.2385G= (p.Thr795=)
c.2094G= (p.Thr698=)
c.1029G= (p.Thr343=)
c.1158G= (p.Thr386=)
c.2160G= (p.Thr720=)
c.942G= (p.Thr314=)
c.2214G= (p.Thr738=)
c.1116G= (p.Thr372=)
n.6401G=
c.2472G= (p.Thr824=)
c.2379G= (p.Thr793=)
c.2298G= (p.Thr766=)
c.2274G= (p.Thr758=)
c.2181G= (p.Thr727=)
c.1407G= (p.Thr469=)
c.1320G= (p.Thr440=)
c.1233G= (p.Thr411=)
c.772-1063G= (n.772-1063G=)
n.1040G=
17g.46024054G>TCA500371469MAPTc.1122G>T (p.Thr374=)
c.1035G>T (p.Thr345=)
c.1209G>T (p.Thr403=)
n.435G>T
n.393G>T
n.627G>T
c.2385G>T (p.Thr795=)
c.2094G>T (p.Thr698=)
c.1029G>T (p.Thr343=)
c.1158G>T (p.Thr386=)
c.2160G>T (p.Thr720=)
c.942G>T (p.Thr314=)
c.2214G>T (p.Thr738=)
c.1116G>T (p.Thr372=)
n.6401G>T
c.2472G>T (p.Thr824=)
c.2379G>T (p.Thr793=)
c.2298G>T (p.Thr766=)
c.2274G>T (p.Thr758=)
c.2181G>T (p.Thr727=)
c.1407G>T (p.Thr469=)
c.1320G>T (p.Thr440=)
c.1233G>T (p.Thr411=)
c.772-1063G>T (n.772-1063G>T)
n.1040G>T
17g.46024055T>ACA399984472MAPTc.1123T>A (p.Ser375Thr)
c.1036T>A (p.Ser346Thr)
c.1210T>A (p.Ser404Thr)
n.436T>A
n.394T>A
n.628T>A
c.2386T>A (p.Ser796Thr)
c.2095T>A (p.Ser699Thr)
c.1030T>A (p.Ser344Thr)
c.1159T>A (p.Ser387Thr)
c.2161T>A (p.Ser721Thr)
c.943T>A (p.Ser315Thr)
c.2215T>A (p.Ser739Thr)
c.1117T>A (p.Ser373Thr)
n.6402T>A
c.2473T>A (p.Ser825Thr)
c.2380T>A (p.Ser794Thr)
c.2299T>A (p.Ser767Thr)
c.2275T>A (p.Ser759Thr)
c.2182T>A (p.Ser728Thr)
c.1408T>A (p.Ser470Thr)
c.1321T>A (p.Ser441Thr)
c.1234T>A (p.Ser412Thr)
c.772-1062T>A (n.772-1062T>A)
n.1041T>A
17g.46024055T>CCA399984473MAPTc.1123T>C (p.Ser375Pro)
c.1036T>C (p.Ser346Pro)
c.1210T>C (p.Ser404Pro)
n.436T>C
n.394T>C
n.628T>C
c.2386T>C (p.Ser796Pro)
c.2095T>C (p.Ser699Pro)
c.1030T>C (p.Ser344Pro)
c.1159T>C (p.Ser387Pro)
c.2161T>C (p.Ser721Pro)
c.943T>C (p.Ser315Pro)
c.2215T>C (p.Ser739Pro)
c.1117T>C (p.Ser373Pro)
n.6402T>C
c.2473T>C (p.Ser825Pro)
c.2380T>C (p.Ser794Pro)
c.2299T>C (p.Ser767Pro)
c.2275T>C (p.Ser759Pro)
c.2182T>C (p.Ser728Pro)
c.1408T>C (p.Ser470Pro)
c.1321T>C (p.Ser441Pro)
c.1234T>C (p.Ser412Pro)
c.772-1062T>C (n.772-1062T>C)
n.1041T>C
17g.46024055T>GCA399984474MAPTc.1123T>G (p.Ser375Ala)
c.1036T>G (p.Ser346Ala)
c.1210T>G (p.Ser404Ala)
n.436T>G
n.394T>G
n.628T>G
c.2386T>G (p.Ser796Ala)
c.2095T>G (p.Ser699Ala)
c.1030T>G (p.Ser344Ala)
c.1159T>G (p.Ser387Ala)
c.2161T>G (p.Ser721Ala)
c.943T>G (p.Ser315Ala)
c.2215T>G (p.Ser739Ala)
c.1117T>G (p.Ser373Ala)
n.6402T>G
c.2473T>G (p.Ser825Ala)
c.2380T>G (p.Ser794Ala)
c.2299T>G (p.Ser767Ala)
c.2275T>G (p.Ser759Ala)
c.2182T>G (p.Ser728Ala)
c.1408T>G (p.Ser470Ala)
c.1321T>G (p.Ser441Ala)
c.1234T>G (p.Ser412Ala)
c.772-1062T>G (n.772-1062T>G)
n.1041T>G
17g.46024056C>ACA399984475MAPTc.1124C>A (p.Ser375Tyr)
c.1037C>A (p.Ser346Tyr)
c.1211C>A (p.Ser404Tyr)
n.437C>A
n.395C>A
n.629C>A
c.2387C>A (p.Ser796Tyr)
c.2096C>A (p.Ser699Tyr)
c.1031C>A (p.Ser344Tyr)
c.1160C>A (p.Ser387Tyr)
c.2162C>A (p.Ser721Tyr)
c.944C>A (p.Ser315Tyr)
c.2216C>A (p.Ser739Tyr)
c.1118C>A (p.Ser373Tyr)
n.6403C>A
c.2474C>A (p.Ser825Tyr)
c.2381C>A (p.Ser794Tyr)
c.2300C>A (p.Ser767Tyr)
c.2276C>A (p.Ser759Tyr)
c.2183C>A (p.Ser728Tyr)
c.1409C>A (p.Ser470Tyr)
c.1322C>A (p.Ser441Tyr)
c.1235C>A (p.Ser412Tyr)
c.772-1061C>A (n.772-1061C>A)
n.1042C>A
17g.46024056C>GCA399984476MAPTc.1124C>G (p.Ser375Cys)
c.1037C>G (p.Ser346Cys)
c.1211C>G (p.Ser404Cys)
n.437C>G
n.395C>G
n.629C>G
c.2387C>G (p.Ser796Cys)
c.2096C>G (p.Ser699Cys)
c.1031C>G (p.Ser344Cys)
c.1160C>G (p.Ser387Cys)
c.2162C>G (p.Ser721Cys)
c.944C>G (p.Ser315Cys)
c.2216C>G (p.Ser739Cys)
c.1118C>G (p.Ser373Cys)
n.6403C>G
c.2474C>G (p.Ser825Cys)
c.2381C>G (p.Ser794Cys)
c.2300C>G (p.Ser767Cys)
c.2276C>G (p.Ser759Cys)
c.2183C>G (p.Ser728Cys)
c.1409C>G (p.Ser470Cys)
c.1322C>G (p.Ser441Cys)
c.1235C>G (p.Ser412Cys)
c.772-1061C>G (n.772-1061C>G)
n.1042C>G
17g.46024056C>TCA399984477MAPTc.1124C>T (p.Ser375Phe)
c.1037C>T (p.Ser346Phe)
c.1211C>T (p.Ser404Phe)
n.437C>T
n.395C>T
n.629C>T
c.2387C>T (p.Ser796Phe)
c.2096C>T (p.Ser699Phe)
c.1031C>T (p.Ser344Phe)
c.1160C>T (p.Ser387Phe)
c.2162C>T (p.Ser721Phe)
c.944C>T (p.Ser315Phe)
c.2216C>T (p.Ser739Phe)
c.1118C>T (p.Ser373Phe)
n.6403C>T
c.2474C>T (p.Ser825Phe)
c.2381C>T (p.Ser794Phe)
c.2300C>T (p.Ser767Phe)
c.2276C>T (p.Ser759Phe)
c.2183C>T (p.Ser728Phe)
c.1409C>T (p.Ser470Phe)
c.1322C>T (p.Ser441Phe)
c.1235C>T (p.Ser412Phe)
c.772-1061C>T (n.772-1061C>T)
n.1042C>T
17g.46024057T>ACA500371470MAPTc.1125T>A (p.Ser375=)
c.1038T>A (p.Ser346=)
c.1212T>A (p.Ser404=)
n.438T>A
n.396T>A
n.630T>A
c.2388T>A (p.Ser796=)
c.2097T>A (p.Ser699=)
c.1032T>A (p.Ser344=)
c.1161T>A (p.Ser387=)
c.2163T>A (p.Ser721=)
c.945T>A (p.Ser315=)
c.2217T>A (p.Ser739=)
c.1119T>A (p.Ser373=)
n.6404T>A
c.2475T>A (p.Ser825=)
c.2382T>A (p.Ser794=)
c.2301T>A (p.Ser767=)
c.2277T>A (p.Ser759=)
c.2184T>A (p.Ser728=)
c.1410T>A (p.Ser470=)
c.1323T>A (p.Ser441=)
c.1236T>A (p.Ser412=)
c.772-1060T>A (n.772-1060T>A)
n.1043T>A
17g.46024057T>CCA500371471MAPTc.1125T>C (p.Ser375=)
c.1038T>C (p.Ser346=)
c.1212T>C (p.Ser404=)
n.438T>C
n.396T>C
n.630T>C
c.2388T>C (p.Ser796=)
c.2097T>C (p.Ser699=)
c.1032T>C (p.Ser344=)
c.1161T>C (p.Ser387=)
c.2163T>C (p.Ser721=)
c.945T>C (p.Ser315=)
c.2217T>C (p.Ser739=)
c.1119T>C (p.Ser373=)
n.6404T>C
c.2475T>C (p.Ser825=)
c.2382T>C (p.Ser794=)
c.2301T>C (p.Ser767=)
c.2277T>C (p.Ser759=)
c.2184T>C (p.Ser728=)
c.1410T>C (p.Ser470=)
c.1323T>C (p.Ser441=)
c.1236T>C (p.Ser412=)
c.772-1060T>C (n.772-1060T>C)
n.1043T>C
17g.46024057T>GCA500371472MAPTc.1125T>G (p.Ser375=)
c.1038T>G (p.Ser346=)
c.1212T>G (p.Ser404=)
n.438T>G
n.396T>G
n.630T>G
c.2388T>G (p.Ser796=)
c.2097T>G (p.Ser699=)
c.1032T>G (p.Ser344=)
c.1161T>G (p.Ser387=)
c.2163T>G (p.Ser721=)
c.945T>G (p.Ser315=)
c.2217T>G (p.Ser739=)
c.1119T>G (p.Ser373=)
n.6404T>G
c.2475T>G (p.Ser825=)
c.2382T>G (p.Ser794=)
c.2301T>G (p.Ser767=)
c.2277T>G (p.Ser759=)
c.2184T>G (p.Ser728=)
c.1410T>G (p.Ser470=)
c.1323T>G (p.Ser441=)
c.1236T>G (p.Ser412=)
c.772-1060T>G (n.772-1060T>G)
n.1043T>G
17g.46024058C>ACA399984480MAPTc.1126C>A (p.Pro376Thr)
c.1039C>A (p.Pro347Thr)
c.1213C>A (p.Pro405Thr)
n.439C>A
n.397C>A
n.631C>A
c.2389C>A (p.Pro797Thr)
c.2098C>A (p.Pro700Thr)
c.1033C>A (p.Pro345Thr)
c.1162C>A (p.Pro388Thr)
c.2164C>A (p.Pro722Thr)
c.946C>A (p.Pro316Thr)
c.2218C>A (p.Pro740Thr)
c.1120C>A (p.Pro374Thr)
n.6405C>A
c.2476C>A (p.Pro826Thr)
c.2383C>A (p.Pro795Thr)
c.2302C>A (p.Pro768Thr)
c.2278C>A (p.Pro760Thr)
c.2185C>A (p.Pro729Thr)
c.1411C>A (p.Pro471Thr)
c.1324C>A (p.Pro442Thr)
c.1237C>A (p.Pro413Thr)
c.772-1059C>A (n.772-1059C>A)
n.1044C>A
17g.46024058C>GCA399984478MAPTc.1126C>G (p.Pro376Ala)
c.1039C>G (p.Pro347Ala)
c.1213C>G (p.Pro405Ala)
n.439C>G
n.397C>G
n.631C>G
c.2389C>G (p.Pro797Ala)
c.2098C>G (p.Pro700Ala)
c.1033C>G (p.Pro345Ala)
c.1162C>G (p.Pro388Ala)
c.2164C>G (p.Pro722Ala)
c.946C>G (p.Pro316Ala)
c.2218C>G (p.Pro740Ala)
c.1120C>G (p.Pro374Ala)
n.6405C>G
c.2476C>G (p.Pro826Ala)
c.2383C>G (p.Pro795Ala)
c.2302C>G (p.Pro768Ala)
c.2278C>G (p.Pro760Ala)
c.2185C>G (p.Pro729Ala)
c.1411C>G (p.Pro471Ala)
c.1324C>G (p.Pro442Ala)
c.1237C>G (p.Pro413Ala)
c.772-1059C>G (n.772-1059C>G)
n.1044C>G
17g.46024058C>TCA399984479MAPTc.1126C>T (p.Pro376Ser)
c.1039C>T (p.Pro347Ser)
c.1213C>T (p.Pro405Ser)
n.439C>T
n.397C>T
n.631C>T
c.2389C>T (p.Pro797Ser)
c.2098C>T (p.Pro700Ser)
c.1033C>T (p.Pro345Ser)
c.1162C>T (p.Pro388Ser)
c.2164C>T (p.Pro722Ser)
c.946C>T (p.Pro316Ser)
c.2218C>T (p.Pro740Ser)
c.1120C>T (p.Pro374Ser)
n.6405C>T
c.2476C>T (p.Pro826Ser)
c.2383C>T (p.Pro795Ser)
c.2302C>T (p.Pro768Ser)
c.2278C>T (p.Pro760Ser)
c.2185C>T (p.Pro729Ser)
c.1411C>T (p.Pro471Ser)
c.1324C>T (p.Pro442Ser)
c.1237C>T (p.Pro413Ser)
c.772-1059C>T (n.772-1059C>T)
n.1044C>T
17g.46024059dupCA2839584585MAPTc.1127dup (p.Arg377ThrfsTer25)
c.1040dup (p.Arg348ThrfsTer25)
c.1214dup (p.Arg406ThrfsTer25)
n.440dup
n.398dup
n.632dup
c.2390dup (p.Arg798ThrfsTer25)
c.2099dup (p.Arg701ThrfsTer25)
c.1034dup (p.Arg346ThrfsTer25)
c.1163dup (p.Arg389ThrfsTer25)
c.2165dup (p.Arg723ThrfsTer25)
c.947dup (p.Arg317ThrfsTer25)
c.2219dup (p.Arg741ThrfsTer25)
c.1121dup (p.Arg375ThrfsTer25)
n.6406dup
c.2477dup (p.Arg827ThrfsTer25)
c.2384dup (p.Arg796ThrfsTer25)
c.2303dup (p.Arg769ThrfsTer25)
c.2279dup (p.Arg761ThrfsTer25)
c.2186dup (p.Arg730ThrfsTer25)
c.1412dup (p.Arg472ThrfsTer25)
c.1325dup (p.Arg443ThrfsTer25)
c.1238dup (p.Arg414ThrfsTer25)
c.772-1058dup (n.772-1058dup)
n.1045dup
17g.46024059C>ACA399984481MAPTc.1127C>A (p.Pro376Gln)
c.1040C>A (p.Pro347Gln)
c.1214C>A (p.Pro405Gln)
n.440C>A
n.398C>A
n.632C>A
c.2390C>A (p.Pro797Gln)
c.2099C>A (p.Pro700Gln)
c.1034C>A (p.Pro345Gln)
c.1163C>A (p.Pro388Gln)
c.2165C>A (p.Pro722Gln)
c.947C>A (p.Pro316Gln)
c.2219C>A (p.Pro740Gln)
c.1121C>A (p.Pro374Gln)
n.6406C>A
c.2477C>A (p.Pro826Gln)
c.2384C>A (p.Pro795Gln)
c.2303C>A (p.Pro768Gln)
c.2279C>A (p.Pro760Gln)
c.2186C>A (p.Pro729Gln)
c.1412C>A (p.Pro471Gln)
c.1325C>A (p.Pro442Gln)
c.1238C>A (p.Pro413Gln)
c.772-1058C>A (n.772-1058C>A)
n.1045C>A
17g.46024059C>GCA399984482MAPTc.1127C>G (p.Pro376Arg)
c.1040C>G (p.Pro347Arg)
c.1214C>G (p.Pro405Arg)
n.440C>G
n.398C>G
n.632C>G
c.2390C>G (p.Pro797Arg)
c.2099C>G (p.Pro700Arg)
c.1034C>G (p.Pro345Arg)
c.1163C>G (p.Pro388Arg)
c.2165C>G (p.Pro722Arg)
c.947C>G (p.Pro316Arg)
c.2219C>G (p.Pro740Arg)
c.1121C>G (p.Pro374Arg)
n.6406C>G
c.2477C>G (p.Pro826Arg)
c.2384C>G (p.Pro795Arg)
c.2303C>G (p.Pro768Arg)
c.2279C>G (p.Pro760Arg)
c.2186C>G (p.Pro729Arg)
c.1412C>G (p.Pro471Arg)
c.1325C>G (p.Pro442Arg)
c.1238C>G (p.Pro413Arg)
c.772-1058C>G (n.772-1058C>G)
n.1045C>G
17g.46024059C>TCA399984483MAPTc.1127C>T (p.Pro376Leu)
c.1040C>T (p.Pro347Leu)
c.1214C>T (p.Pro405Leu)
n.440C>T
n.398C>T
n.632C>T
c.2390C>T (p.Pro797Leu)
c.2099C>T (p.Pro700Leu)
c.1034C>T (p.Pro345Leu)
c.1163C>T (p.Pro388Leu)
c.2165C>T (p.Pro722Leu)
c.947C>T (p.Pro316Leu)
c.2219C>T (p.Pro740Leu)
c.1121C>T (p.Pro374Leu)
n.6406C>T
c.2477C>T (p.Pro826Leu)
c.2384C>T (p.Pro795Leu)
c.2303C>T (p.Pro768Leu)
c.2279C>T (p.Pro760Leu)
c.2186C>T (p.Pro729Leu)
c.1412C>T (p.Pro471Leu)
c.1325C>T (p.Pro442Leu)
c.1238C>T (p.Pro413Leu)
c.772-1058C>T (n.772-1058C>T)
n.1045C>T
17g.46024060A>CCA500371475MAPTc.1128A>C (p.Pro376=)
c.1041A>C (p.Pro347=)
c.1215A>C (p.Pro405=)
n.441A>C
n.399A>C
n.633A>C
c.2391A>C (p.Pro797=)
c.2100A>C (p.Pro700=)
c.1035A>C (p.Pro345=)
c.1164A>C (p.Pro388=)
c.2166A>C (p.Pro722=)
c.948A>C (p.Pro316=)
c.2220A>C (p.Pro740=)
c.1122A>C (p.Pro374=)
n.6407A>C
c.2478A>C (p.Pro826=)
c.2385A>C (p.Pro795=)
c.2304A>C (p.Pro768=)
c.2280A>C (p.Pro760=)
c.2187A>C (p.Pro729=)
c.1413A>C (p.Pro471=)
c.1326A>C (p.Pro442=)
c.1239A>C (p.Pro413=)
c.772-1057A>C (n.772-1057A>C)
n.1046A>C
17g.46024060A>GCA500371473MAPTc.1128A>G (p.Pro376=)
c.1041A>G (p.Pro347=)
c.1215A>G (p.Pro405=)
n.441A>G
n.399A>G
n.633A>G
c.2391A>G (p.Pro797=)
c.2100A>G (p.Pro700=)
c.1035A>G (p.Pro345=)
c.1164A>G (p.Pro388=)
c.2166A>G (p.Pro722=)
c.948A>G (p.Pro316=)
c.2220A>G (p.Pro740=)
c.1122A>G (p.Pro374=)
n.6407A>G
c.2478A>G (p.Pro826=)
c.2385A>G (p.Pro795=)
c.2304A>G (p.Pro768=)
c.2280A>G (p.Pro760=)
c.2187A>G (p.Pro729=)
c.1413A>G (p.Pro471=)
c.1326A>G (p.Pro442=)
c.1239A>G (p.Pro413=)
c.772-1057A>G (n.772-1057A>G)
n.1046A>G
17g.46024060A>TCA500371474MAPTc.1128A>T (p.Pro376=)
c.1041A>T (p.Pro347=)
c.1215A>T (p.Pro405=)
n.441A>T
n.399A>T
n.633A>T
c.2391A>T (p.Pro797=)
c.2100A>T (p.Pro700=)
c.1035A>T (p.Pro345=)
c.1164A>T (p.Pro388=)
c.2166A>T (p.Pro722=)
c.948A>T (p.Pro316=)
c.2220A>T (p.Pro740=)
c.1122A>T (p.Pro374=)
n.6407A>T
c.2478A>T (p.Pro826=)
c.2385A>T (p.Pro795=)
c.2304A>T (p.Pro768=)
c.2280A>T (p.Pro760=)
c.2187A>T (p.Pro729=)
c.1413A>T (p.Pro471=)
c.1326A>T (p.Pro442=)
c.1239A>T (p.Pro413=)
c.772-1057A>T (n.772-1057A>T)
n.1046A>T
17g.46024061C>ACA500371476MAPTc.1129C>A (p.Arg377=)
c.1042C>A (p.Arg348=)
c.1216C>A (p.Arg406=)
n.442C>A
n.400C>A
n.634C>A
c.2392C>A (p.Arg798=)
c.2101C>A (p.Arg701=)
c.1036C>A (p.Arg346=)
c.1165C>A (p.Arg389=)
c.2167C>A (p.Arg723=)
c.949C>A (p.Arg317=)
c.2221C>A (p.Arg741=)
c.1123C>A (p.Arg375=)
n.6408C>A
c.2479C>A (p.Arg827=)
c.2386C>A (p.Arg796=)
c.2305C>A (p.Arg769=)
c.2281C>A (p.Arg761=)
c.2188C>A (p.Arg730=)
c.1414C>A (p.Arg472=)
c.1327C>A (p.Arg443=)
c.1240C>A (p.Arg414=)
c.772-1056C>A (n.772-1056C>A)
n.1047C>A
17g.46024061C=CA2262106937MAPTc.1129C= (p.Arg377=)
c.1042C= (p.Arg348=)
c.1216C= (p.Arg406=)
n.442C=
n.400C=
n.634C=
c.2392C= (p.Arg798=)
c.2101C= (p.Arg701=)
c.1036C= (p.Arg346=)
c.1165C= (p.Arg389=)
c.2167C= (p.Arg723=)
c.949C= (p.Arg317=)
c.2221C= (p.Arg741=)
c.1123C= (p.Arg375=)
n.6408C=
c.2479C= (p.Arg827=)
c.2386C= (p.Arg796=)
c.2305C= (p.Arg769=)
c.2281C= (p.Arg761=)
c.2188C= (p.Arg730=)
c.1414C= (p.Arg472=)
c.1327C= (p.Arg443=)
c.1240C= (p.Arg414=)
c.772-1056C= (n.772-1056C=)
n.1047C=
17g.46024061C>GCA399984484MAPTc.1129C>G (p.Arg377Gly)
c.1042C>G (p.Arg348Gly)
c.1216C>G (p.Arg406Gly)
n.442C>G
n.400C>G
n.634C>G
c.2392C>G (p.Arg798Gly)
c.2101C>G (p.Arg701Gly)
c.1036C>G (p.Arg346Gly)
c.1165C>G (p.Arg389Gly)
c.2167C>G (p.Arg723Gly)
c.949C>G (p.Arg317Gly)
c.2221C>G (p.Arg741Gly)
c.1123C>G (p.Arg375Gly)
n.6408C>G
c.2479C>G (p.Arg827Gly)
c.2386C>G (p.Arg796Gly)
c.2305C>G (p.Arg769Gly)
c.2281C>G (p.Arg761Gly)
c.2188C>G (p.Arg730Gly)
c.1414C>G (p.Arg472Gly)
c.1327C>G (p.Arg443Gly)
c.1240C>G (p.Arg414Gly)
c.772-1056C>G (n.772-1056C>G)
n.1047C>G
17g.46024061C>TCA225495MAPTc.1129C>T (p.Arg377Trp)
c.1042C>T (p.Arg348Trp)
c.1216C>T (p.Arg406Trp)
n.442C>T
n.400C>T
n.634C>T
c.2392C>T (p.Arg798Trp)
c.2101C>T (p.Arg701Trp)
c.1036C>T (p.Arg346Trp)
c.1165C>T (p.Arg389Trp)
c.2167C>T (p.Arg723Trp)
c.949C>T (p.Arg317Trp)
c.2221C>T (p.Arg741Trp)
c.1123C>T (p.Arg375Trp)
n.6408C>T
c.2479C>T (p.Arg827Trp)
c.2386C>T (p.Arg796Trp)
c.2305C>T (p.Arg769Trp)
c.2281C>T (p.Arg761Trp)
c.2188C>T (p.Arg730Trp)
c.1414C>T (p.Arg472Trp)
c.1327C>T (p.Arg443Trp)
c.1240C>T (p.Arg414Trp)
c.772-1056C>T (n.772-1056C>T)
n.1047C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.46024062G>ACA8618262MAPTc.1130G>A (p.Arg377Gln)
c.1043G>A (p.Arg348Gln)
c.1217G>A (p.Arg406Gln)
n.443G>A
n.401G>A
n.635G>A
c.2393G>A (p.Arg798Gln)
c.2102G>A (p.Arg701Gln)
c.1037G>A (p.Arg346Gln)
c.1166G>A (p.Arg389Gln)
c.2168G>A (p.Arg723Gln)
c.950G>A (p.Arg317Gln)
c.2222G>A (p.Arg741Gln)
c.1124G>A (p.Arg375Gln)
n.6409G>A
c.2480G>A (p.Arg827Gln)
c.2387G>A (p.Arg796Gln)
c.2306G>A (p.Arg769Gln)
c.2282G>A (p.Arg761Gln)
c.2189G>A (p.Arg730Gln)
c.1415G>A (p.Arg472Gln)
c.1328G>A (p.Arg443Gln)
c.1241G>A (p.Arg414Gln)
c.772-1055G>A (n.772-1055G>A)
n.1048G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46024062G>CCA291118013MAPTc.1130G>C (p.Arg377Pro)
c.1043G>C (p.Arg348Pro)
c.1217G>C (p.Arg406Pro)
n.443G>C
n.401G>C
n.635G>C
c.2393G>C (p.Arg798Pro)
c.2102G>C (p.Arg701Pro)
c.1037G>C (p.Arg346Pro)
c.1166G>C (p.Arg389Pro)
c.2168G>C (p.Arg723Pro)
c.950G>C (p.Arg317Pro)
c.2222G>C (p.Arg741Pro)
c.1124G>C (p.Arg375Pro)
n.6409G>C
c.2480G>C (p.Arg827Pro)
c.2387G>C (p.Arg796Pro)
c.2306G>C (p.Arg769Pro)
c.2282G>C (p.Arg761Pro)
c.2189G>C (p.Arg730Pro)
c.1415G>C (p.Arg472Pro)
c.1328G>C (p.Arg443Pro)
c.1241G>C (p.Arg414Pro)
c.772-1055G>C (n.772-1055G>C)
n.1048G>C
 dbSNP gnomAD v2 gnomAD v4
17g.46024062G=CA2262106938MAPTc.1130G= (p.Arg377=)
c.1043G= (p.Arg348=)
c.1217G= (p.Arg406=)
n.443G=
n.401G=
n.635G=
c.2393G= (p.Arg798=)
c.2102G= (p.Arg701=)
c.1037G= (p.Arg346=)
c.1166G= (p.Arg389=)
c.2168G= (p.Arg723=)
c.950G= (p.Arg317=)
c.2222G= (p.Arg741=)
c.1124G= (p.Arg375=)
n.6409G=
c.2480G= (p.Arg827=)
c.2387G= (p.Arg796=)
c.2306G= (p.Arg769=)
c.2282G= (p.Arg761=)
c.2189G= (p.Arg730=)
c.1415G= (p.Arg472=)
c.1328G= (p.Arg443=)
c.1241G= (p.Arg414=)
c.772-1055G= (n.772-1055G=)
n.1048G=
17g.46024062G>TCA399984485MAPTc.1130G>T (p.Arg377Leu)
c.1043G>T (p.Arg348Leu)
c.1217G>T (p.Arg406Leu)
n.443G>T
n.401G>T
n.635G>T
c.2393G>T (p.Arg798Leu)
c.2102G>T (p.Arg701Leu)
c.1037G>T (p.Arg346Leu)
c.1166G>T (p.Arg389Leu)
c.2168G>T (p.Arg723Leu)
c.950G>T (p.Arg317Leu)
c.2222G>T (p.Arg741Leu)
c.1124G>T (p.Arg375Leu)
n.6409G>T
c.2480G>T (p.Arg827Leu)
c.2387G>T (p.Arg796Leu)
c.2306G>T (p.Arg769Leu)
c.2282G>T (p.Arg761Leu)
c.2189G>T (p.Arg730Leu)
c.1415G>T (p.Arg472Leu)
c.1328G>T (p.Arg443Leu)
c.1241G>T (p.Arg414Leu)
c.772-1055G>T (n.772-1055G>T)
n.1048G>T
17g.46024062_46024063insCCCA2559249970MAPTc.1130_1131insCC (p.His378ArgfsTer15)
c.1043_1044insCC (p.His349ArgfsTer15)
c.1217_1218insCC (p.His407ArgfsTer15)
n.443_444insCC
n.401_402insCC
n.635_636insCC
c.2393_2394insCC (p.His799ArgfsTer15)
c.2102_2103insCC (p.His702ArgfsTer15)
c.1037_1038insCC (p.His347ArgfsTer15)
c.1166_1167insCC (p.His390ArgfsTer15)
c.2168_2169insCC (p.His724ArgfsTer15)
c.950_951insCC (p.His318ArgfsTer15)
c.2222_2223insCC (p.His742ArgfsTer15)
c.1124_1125insCC (p.His376ArgfsTer15)
n.6409_6410insCC
c.2480_2481insCC (p.His828ArgfsTer15)
c.2387_2388insCC (p.His797ArgfsTer15)
c.2306_2307insCC (p.His770ArgfsTer15)
c.2282_2283insCC (p.His762ArgfsTer15)
c.2189_2190insCC (p.His731ArgfsTer15)
c.1415_1416insCC (p.His473ArgfsTer15)
c.1328_1329insCC (p.His444ArgfsTer15)
c.1241_1242insCC (p.His415ArgfsTer15)
c.772-1055_772-1054insCC (n.772-1055_772-1054insCC)
n.1048_1049insCC
17g.46024063G>ACA500371477MAPTc.1131G>A (p.Arg377=)
c.1044G>A (p.Arg348=)
c.1218G>A (p.Arg406=)
n.444G>A
n.402G>A
n.636G>A
c.2394G>A (p.Arg798=)
c.2103G>A (p.Arg701=)
c.1038G>A (p.Arg346=)
c.1167G>A (p.Arg389=)
c.2169G>A (p.Arg723=)
c.951G>A (p.Arg317=)
c.2223G>A (p.Arg741=)
c.1125G>A (p.Arg375=)
n.6410G>A
c.2481G>A (p.Arg827=)
c.2388G>A (p.Arg796=)
c.2307G>A (p.Arg769=)
c.2283G>A (p.Arg761=)
c.2190G>A (p.Arg730=)
c.1416G>A (p.Arg472=)
c.1329G>A (p.Arg443=)
c.1242G>A (p.Arg414=)
c.772-1054G>A (n.772-1054G>A)
n.1049G>A
17g.46024063G>CCA500371478MAPTc.1131G>C (p.Arg377=)
c.1044G>C (p.Arg348=)
c.1218G>C (p.Arg406=)
n.444G>C
n.402G>C
n.636G>C
c.2394G>C (p.Arg798=)
c.2103G>C (p.Arg701=)
c.1038G>C (p.Arg346=)
c.1167G>C (p.Arg389=)
c.2169G>C (p.Arg723=)
c.951G>C (p.Arg317=)
c.2223G>C (p.Arg741=)
c.1125G>C (p.Arg375=)
n.6410G>C
c.2481G>C (p.Arg827=)
c.2388G>C (p.Arg796=)
c.2307G>C (p.Arg769=)
c.2283G>C (p.Arg761=)
c.2190G>C (p.Arg730=)
c.1416G>C (p.Arg472=)
c.1329G>C (p.Arg443=)
c.1242G>C (p.Arg414=)
c.772-1054G>C (n.772-1054G>C)
n.1049G>C
17g.46024063G>TCA500371479MAPTc.1131G>T (p.Arg377=)
c.1044G>T (p.Arg348=)
c.1218G>T (p.Arg406=)
n.444G>T
n.402G>T
n.636G>T
c.2394G>T (p.Arg798=)
c.2103G>T (p.Arg701=)
c.1038G>T (p.Arg346=)
c.1167G>T (p.Arg389=)
c.2169G>T (p.Arg723=)
c.951G>T (p.Arg317=)
c.2223G>T (p.Arg741=)
c.1125G>T (p.Arg375=)
n.6410G>T
c.2481G>T (p.Arg827=)
c.2388G>T (p.Arg796=)
c.2307G>T (p.Arg769=)
c.2283G>T (p.Arg761=)
c.2190G>T (p.Arg730=)
c.1416G>T (p.Arg472=)
c.1329G>T (p.Arg443=)
c.1242G>T (p.Arg414=)
c.772-1054G>T (n.772-1054G>T)
n.1049G>T
17g.46024064C>ACA399984486MAPTc.1132C>A (p.His378Asn)
c.1045C>A (p.His349Asn)
c.1219C>A (p.His407Asn)
n.445C>A
n.403C>A
n.637C>A
c.2395C>A (p.His799Asn)
c.2104C>A (p.His702Asn)
c.1039C>A (p.His347Asn)
c.1168C>A (p.His390Asn)
c.2170C>A (p.His724Asn)
c.952C>A (p.His318Asn)
c.2224C>A (p.His742Asn)
c.1126C>A (p.His376Asn)
n.6411C>A
c.2482C>A (p.His828Asn)
c.2389C>A (p.His797Asn)
c.2308C>A (p.His770Asn)
c.2284C>A (p.His762Asn)
c.2191C>A (p.His731Asn)
c.1417C>A (p.His473Asn)
c.1330C>A (p.His444Asn)
c.1243C>A (p.His415Asn)
c.772-1053C>A (n.772-1053C>A)
n.1050C>A
17g.46024064C=CA2262106939MAPTc.1132C= (p.His378=)
c.1045C= (p.His349=)
c.1219C= (p.His407=)
n.445C=
n.403C=
n.637C=
c.2395C= (p.His799=)
c.2104C= (p.His702=)
c.1039C= (p.His347=)
c.1168C= (p.His390=)
c.2170C= (p.His724=)
c.952C= (p.His318=)
c.2224C= (p.His742=)
c.1126C= (p.His376=)
n.6411C=
c.2482C= (p.His828=)
c.2389C= (p.His797=)
c.2308C= (p.His770=)
c.2284C= (p.His762=)
c.2191C= (p.His731=)
c.1417C= (p.His473=)
c.1330C= (p.His444=)
c.1243C= (p.His415=)
c.772-1053C= (n.772-1053C=)
n.1050C=
17g.46024064C>GCA399984487MAPTc.1132C>G (p.His378Asp)
c.1045C>G (p.His349Asp)
c.1219C>G (p.His407Asp)
n.445C>G
n.403C>G
n.637C>G
c.2395C>G (p.His799Asp)
c.2104C>G (p.His702Asp)
c.1039C>G (p.His347Asp)
c.1168C>G (p.His390Asp)
c.2170C>G (p.His724Asp)
c.952C>G (p.His318Asp)
c.2224C>G (p.His742Asp)
c.1126C>G (p.His376Asp)
n.6411C>G
c.2482C>G (p.His828Asp)
c.2389C>G (p.His797Asp)
c.2308C>G (p.His770Asp)
c.2284C>G (p.His762Asp)
c.2191C>G (p.His731Asp)
c.1417C>G (p.His473Asp)
c.1330C>G (p.His444Asp)
c.1243C>G (p.His415Asp)
c.772-1053C>G (n.772-1053C>G)
n.1050C>G
17g.46024064C>TCA399984488MAPTc.1132C>T (p.His378Tyr)
c.1045C>T (p.His349Tyr)
c.1219C>T (p.His407Tyr)
n.445C>T
n.403C>T
n.637C>T
c.2395C>T (p.His799Tyr)
c.2104C>T (p.His702Tyr)
c.1039C>T (p.His347Tyr)
c.1168C>T (p.His390Tyr)
c.2170C>T (p.His724Tyr)
c.952C>T (p.His318Tyr)
c.2224C>T (p.His742Tyr)
c.1126C>T (p.His376Tyr)
n.6411C>T
c.2482C>T (p.His828Tyr)
c.2389C>T (p.His797Tyr)
c.2308C>T (p.His770Tyr)
c.2284C>T (p.His762Tyr)
c.2191C>T (p.His731Tyr)
c.1417C>T (p.His473Tyr)
c.1330C>T (p.His444Tyr)
c.1243C>T (p.His415Tyr)
c.772-1053C>T (n.772-1053C>T)
n.1050C>T
 dbSNP gnomAD v2 gnomAD v4
17g.46024065A>CCA399984489MAPTc.1133A>C (p.His378Pro)
c.1046A>C (p.His349Pro)
c.1220A>C (p.His407Pro)
n.446A>C
n.404A>C
n.638A>C
c.2396A>C (p.His799Pro)
c.2105A>C (p.His702Pro)
c.1040A>C (p.His347Pro)
c.1169A>C (p.His390Pro)
c.2171A>C (p.His724Pro)
c.953A>C (p.His318Pro)
c.2225A>C (p.His742Pro)
c.1127A>C (p.His376Pro)
n.6412A>C
c.2483A>C (p.His828Pro)
c.2390A>C (p.His797Pro)
c.2309A>C (p.His770Pro)
c.2285A>C (p.His762Pro)
c.2192A>C (p.His731Pro)
c.1418A>C (p.His473Pro)
c.1331A>C (p.His444Pro)
c.1244A>C (p.His415Pro)
c.772-1052A>C (n.772-1052A>C)
n.1051A>C
17g.46024065A>GCA399984490MAPTc.1133A>G (p.His378Arg)
c.1046A>G (p.His349Arg)
c.1220A>G (p.His407Arg)
n.446A>G
n.404A>G
n.638A>G
c.2396A>G (p.His799Arg)
c.2105A>G (p.His702Arg)
c.1040A>G (p.His347Arg)
c.1169A>G (p.His390Arg)
c.2171A>G (p.His724Arg)
c.953A>G (p.His318Arg)
c.2225A>G (p.His742Arg)
c.1127A>G (p.His376Arg)
n.6412A>G
c.2483A>G (p.His828Arg)
c.2390A>G (p.His797Arg)
c.2309A>G (p.His770Arg)
c.2285A>G (p.His762Arg)
c.2192A>G (p.His731Arg)
c.1418A>G (p.His473Arg)
c.1331A>G (p.His444Arg)
c.1244A>G (p.His415Arg)
c.772-1052A>G (n.772-1052A>G)
n.1051A>G
17g.46024065A>TCA399984491MAPTc.1133A>T (p.His378Leu)
c.1046A>T (p.His349Leu)
c.1220A>T (p.His407Leu)
n.446A>T
n.404A>T
n.638A>T
c.2396A>T (p.His799Leu)
c.2105A>T (p.His702Leu)
c.1040A>T (p.His347Leu)
c.1169A>T (p.His390Leu)
c.2171A>T (p.His724Leu)
c.953A>T (p.His318Leu)
c.2225A>T (p.His742Leu)
c.1127A>T (p.His376Leu)
n.6412A>T
c.2483A>T (p.His828Leu)
c.2390A>T (p.His797Leu)
c.2309A>T (p.His770Leu)
c.2285A>T (p.His762Leu)
c.2192A>T (p.His731Leu)
c.1418A>T (p.His473Leu)
c.1331A>T (p.His444Leu)
c.1244A>T (p.His415Leu)
c.772-1052A>T (n.772-1052A>T)
n.1051A>T
17g.46024065_46024066delCA2522037037MAPTc.1133_1134del (p.His378ProfsTer23)
c.1046_1047del (p.His349ProfsTer23)
c.1220_1221del (p.His407ProfsTer23)
n.446_447del
n.404_405del
n.638_639del
c.2396_2397del (p.His799ProfsTer23)
c.2105_2106del (p.His702ProfsTer23)
c.1040_1041del (p.His347ProfsTer23)
c.1169_1170del (p.His390ProfsTer23)
c.2171_2172del (p.His724ProfsTer23)
c.953_954del (p.His318ProfsTer23)
c.2225_2226del (p.His742ProfsTer23)
c.1127_1128del (p.His376ProfsTer23)
n.6412_6413del
c.2483_2484del (p.His828ProfsTer23)
c.2390_2391del (p.His797ProfsTer23)
c.2309_2310del (p.His770ProfsTer23)
c.2285_2286del (p.His762ProfsTer23)
c.2192_2193del (p.His731ProfsTer23)
c.1418_1419del (p.His473ProfsTer23)
c.1331_1332del (p.His444ProfsTer23)
c.1244_1245del (p.His415ProfsTer23)
c.772-1052_772-1051del (n.772-1052_772-1051del)
n.1051_1052del
17g.46024066T>ACA399984492MAPTc.1134T>A (p.His378Gln)
c.1047T>A (p.His349Gln)
c.1221T>A (p.His407Gln)
n.447T>A
n.405T>A
n.639T>A
c.2397T>A (p.His799Gln)
c.2106T>A (p.His702Gln)
c.1041T>A (p.His347Gln)
c.1170T>A (p.His390Gln)
c.2172T>A (p.His724Gln)
c.954T>A (p.His318Gln)
c.2226T>A (p.His742Gln)
c.1128T>A (p.His376Gln)
n.6413T>A
c.2484T>A (p.His828Gln)
c.2391T>A (p.His797Gln)
c.2310T>A (p.His770Gln)
c.2286T>A (p.His762Gln)
c.2193T>A (p.His731Gln)
c.1419T>A (p.His473Gln)
c.1332T>A (p.His444Gln)
c.1245T>A (p.His415Gln)
c.772-1051T>A (n.772-1051T>A)
n.1052T>A
17g.46024066T>CCA500371480MAPTc.1134T>C (p.His378=)
c.1047T>C (p.His349=)
c.1221T>C (p.His407=)
n.447T>C
n.405T>C
n.639T>C
c.2397T>C (p.His799=)
c.2106T>C (p.His702=)
c.1041T>C (p.His347=)
c.1170T>C (p.His390=)
c.2172T>C (p.His724=)
c.954T>C (p.His318=)
c.2226T>C (p.His742=)
c.1128T>C (p.His376=)
n.6413T>C
c.2484T>C (p.His828=)
c.2391T>C (p.His797=)
c.2310T>C (p.His770=)
c.2286T>C (p.His762=)
c.2193T>C (p.His731=)
c.1419T>C (p.His473=)
c.1332T>C (p.His444=)
c.1245T>C (p.His415=)
c.772-1051T>C (n.772-1051T>C)
n.1052T>C
17g.46024066T>GCA399984493MAPTc.1134T>G (p.His378Gln)
c.1047T>G (p.His349Gln)
c.1221T>G (p.His407Gln)
n.447T>G
n.405T>G
n.639T>G
c.2397T>G (p.His799Gln)
c.2106T>G (p.His702Gln)
c.1041T>G (p.His347Gln)
c.1170T>G (p.His390Gln)
c.2172T>G (p.His724Gln)
c.954T>G (p.His318Gln)
c.2226T>G (p.His742Gln)
c.1128T>G (p.His376Gln)
n.6413T>G
c.2484T>G (p.His828Gln)
c.2391T>G (p.His797Gln)
c.2310T>G (p.His770Gln)
c.2286T>G (p.His762Gln)
c.2193T>G (p.His731Gln)
c.1419T>G (p.His473Gln)
c.1332T>G (p.His444Gln)
c.1245T>G (p.His415Gln)
c.772-1051T>G (n.772-1051T>G)
n.1052T>G
17g.46024067C>ACA399984494MAPTc.1135C>A (p.Leu379Ile)
c.1048C>A (p.Leu350Ile)
c.1222C>A (p.Leu408Ile)
n.448C>A
n.406C>A
n.640C>A
c.2398C>A (p.Leu800Ile)
c.2107C>A (p.Leu703Ile)
c.1042C>A (p.Leu348Ile)
c.1171C>A (p.Leu391Ile)
c.2173C>A (p.Leu725Ile)
c.955C>A (p.Leu319Ile)
c.2227C>A (p.Leu743Ile)
c.1129C>A (p.Leu377Ile)
n.6414C>A
c.2485C>A (p.Leu829Ile)
c.2392C>A (p.Leu798Ile)
c.2311C>A (p.Leu771Ile)
c.2287C>A (p.Leu763Ile)
c.2194C>A (p.Leu732Ile)
c.1420C>A (p.Leu474Ile)
c.1333C>A (p.Leu445Ile)
c.1246C>A (p.Leu416Ile)
c.772-1050C>A (n.772-1050C>A)
n.1053C>A
17g.46024067C>GCA399984495MAPTc.1135C>G (p.Leu379Val)
c.1048C>G (p.Leu350Val)
c.1222C>G (p.Leu408Val)
n.448C>G
n.406C>G
n.640C>G
c.2398C>G (p.Leu800Val)
c.2107C>G (p.Leu703Val)
c.1042C>G (p.Leu348Val)
c.1171C>G (p.Leu391Val)
c.2173C>G (p.Leu725Val)
c.955C>G (p.Leu319Val)
c.2227C>G (p.Leu743Val)
c.1129C>G (p.Leu377Val)
n.6414C>G
c.2485C>G (p.Leu829Val)
c.2392C>G (p.Leu798Val)
c.2311C>G (p.Leu771Val)
c.2287C>G (p.Leu763Val)
c.2194C>G (p.Leu732Val)
c.1420C>G (p.Leu474Val)
c.1333C>G (p.Leu445Val)
c.1246C>G (p.Leu416Val)
c.772-1050C>G (n.772-1050C>G)
n.1053C>G
17g.46024067C>TCA399984496MAPTc.1135C>T (p.Leu379Phe)
c.1048C>T (p.Leu350Phe)
c.1222C>T (p.Leu408Phe)
n.448C>T
n.406C>T
n.640C>T
c.2398C>T (p.Leu800Phe)
c.2107C>T (p.Leu703Phe)
c.1042C>T (p.Leu348Phe)
c.1171C>T (p.Leu391Phe)
c.2173C>T (p.Leu725Phe)
c.955C>T (p.Leu319Phe)
c.2227C>T (p.Leu743Phe)
c.1129C>T (p.Leu377Phe)
n.6414C>T
c.2485C>T (p.Leu829Phe)
c.2392C>T (p.Leu798Phe)
c.2311C>T (p.Leu771Phe)
c.2287C>T (p.Leu763Phe)
c.2194C>T (p.Leu732Phe)
c.1420C>T (p.Leu474Phe)
c.1333C>T (p.Leu445Phe)
c.1246C>T (p.Leu416Phe)
c.772-1050C>T (n.772-1050C>T)
n.1053C>T
17g.46024068T>ACA399984499MAPTc.1136T>A (p.Leu379His)
c.1049T>A (p.Leu350His)
c.1223T>A (p.Leu408His)
n.449T>A
n.407T>A
n.641T>A
c.2399T>A (p.Leu800His)
c.2108T>A (p.Leu703His)
c.1043T>A (p.Leu348His)
c.1172T>A (p.Leu391His)
c.2174T>A (p.Leu725His)
c.956T>A (p.Leu319His)
c.2228T>A (p.Leu743His)
c.1130T>A (p.Leu377His)
n.6415T>A
c.2486T>A (p.Leu829His)
c.2393T>A (p.Leu798His)
c.2312T>A (p.Leu771His)
c.2288T>A (p.Leu763His)
c.2195T>A (p.Leu732His)
c.1421T>A (p.Leu474His)
c.1334T>A (p.Leu445His)
c.1247T>A (p.Leu416His)
c.772-1049T>A (n.772-1049T>A)
n.1054T>A
17g.46024068T>CCA399984498MAPTc.1136T>C (p.Leu379Pro)
c.1049T>C (p.Leu350Pro)
c.1223T>C (p.Leu408Pro)
n.449T>C
n.407T>C
n.641T>C
c.2399T>C (p.Leu800Pro)
c.2108T>C (p.Leu703Pro)
c.1043T>C (p.Leu348Pro)
c.1172T>C (p.Leu391Pro)
c.2174T>C (p.Leu725Pro)
c.956T>C (p.Leu319Pro)
c.2228T>C (p.Leu743Pro)
c.1130T>C (p.Leu377Pro)
n.6415T>C
c.2486T>C (p.Leu829Pro)
c.2393T>C (p.Leu798Pro)
c.2312T>C (p.Leu771Pro)
c.2288T>C (p.Leu763Pro)
c.2195T>C (p.Leu732Pro)
c.1421T>C (p.Leu474Pro)
c.1334T>C (p.Leu445Pro)
c.1247T>C (p.Leu416Pro)
c.772-1049T>C (n.772-1049T>C)
n.1054T>C
17g.46024068T>GCA399984497MAPTc.1136T>G (p.Leu379Arg)
c.1049T>G (p.Leu350Arg)
c.1223T>G (p.Leu408Arg)
n.449T>G
n.407T>G
n.641T>G
c.2399T>G (p.Leu800Arg)
c.2108T>G (p.Leu703Arg)
c.1043T>G (p.Leu348Arg)
c.1172T>G (p.Leu391Arg)
c.2174T>G (p.Leu725Arg)
c.956T>G (p.Leu319Arg)
c.2228T>G (p.Leu743Arg)
c.1130T>G (p.Leu377Arg)
n.6415T>G
c.2486T>G (p.Leu829Arg)
c.2393T>G (p.Leu798Arg)
c.2312T>G (p.Leu771Arg)
c.2288T>G (p.Leu763Arg)
c.2195T>G (p.Leu732Arg)
c.1421T>G (p.Leu474Arg)
c.1334T>G (p.Leu445Arg)
c.1247T>G (p.Leu416Arg)
c.772-1049T>G (n.772-1049T>G)
n.1054T>G
17g.46024069C>ACA500371481MAPTc.1137C>A (p.Leu379=)
c.1050C>A (p.Leu350=)
c.1224C>A (p.Leu408=)
n.450C>A
n.408C>A
n.642C>A
c.2400C>A (p.Leu800=)
c.2109C>A (p.Leu703=)
c.1044C>A (p.Leu348=)
c.1173C>A (p.Leu391=)
c.2175C>A (p.Leu725=)
c.957C>A (p.Leu319=)
c.2229C>A (p.Leu743=)
c.1131C>A (p.Leu377=)
n.6416C>A
c.2487C>A (p.Leu829=)
c.2394C>A (p.Leu798=)
c.2313C>A (p.Leu771=)
c.2289C>A (p.Leu763=)
c.2196C>A (p.Leu732=)
c.1422C>A (p.Leu474=)
c.1335C>A (p.Leu445=)
c.1248C>A (p.Leu416=)
c.772-1048C>A (n.772-1048C>A)
n.1055C>A
17g.46024069C>GCA500371483MAPTc.1137C>G (p.Leu379=)
c.1050C>G (p.Leu350=)
c.1224C>G (p.Leu408=)
n.450C>G
n.408C>G
n.642C>G
c.2400C>G (p.Leu800=)
c.2109C>G (p.Leu703=)
c.1044C>G (p.Leu348=)
c.1173C>G (p.Leu391=)
c.2175C>G (p.Leu725=)
c.957C>G (p.Leu319=)
c.2229C>G (p.Leu743=)
c.1131C>G (p.Leu377=)
n.6416C>G
c.2487C>G (p.Leu829=)
c.2394C>G (p.Leu798=)
c.2313C>G (p.Leu771=)
c.2289C>G (p.Leu763=)
c.2196C>G (p.Leu732=)
c.1422C>G (p.Leu474=)
c.1335C>G (p.Leu445=)
c.1248C>G (p.Leu416=)
c.772-1048C>G (n.772-1048C>G)
n.1055C>G
17g.46024069C>TCA500371482MAPTc.1137C>T (p.Leu379=)
c.1050C>T (p.Leu350=)
c.1224C>T (p.Leu408=)
n.450C>T
n.408C>T
n.642C>T
c.2400C>T (p.Leu800=)
c.2109C>T (p.Leu703=)
c.1044C>T (p.Leu348=)
c.1173C>T (p.Leu391=)
c.2175C>T (p.Leu725=)
c.957C>T (p.Leu319=)
c.2229C>T (p.Leu743=)
c.1131C>T (p.Leu377=)
n.6416C>T
c.2487C>T (p.Leu829=)
c.2394C>T (p.Leu798=)
c.2313C>T (p.Leu771=)
c.2289C>T (p.Leu763=)
c.2196C>T (p.Leu732=)
c.1422C>T (p.Leu474=)
c.1335C>T (p.Leu445=)
c.1248C>T (p.Leu416=)
c.772-1048C>T (n.772-1048C>T)
n.1055C>T
17g.46024070A>CCA399984500MAPTc.1138A>C (p.Ser380Arg)
c.1051A>C (p.Ser351Arg)
c.1225A>C (p.Ser409Arg)
n.451A>C
n.409A>C
n.643A>C
c.2401A>C (p.Ser801Arg)
c.2110A>C (p.Ser704Arg)
c.1045A>C (p.Ser349Arg)
c.1174A>C (p.Ser392Arg)
c.2176A>C (p.Ser726Arg)
c.958A>C (p.Ser320Arg)
c.2230A>C (p.Ser744Arg)
c.1132A>C (p.Ser378Arg)
n.6417A>C
c.2488A>C (p.Ser830Arg)
c.2395A>C (p.Ser799Arg)
c.2314A>C (p.Ser772Arg)
c.2290A>C (p.Ser764Arg)
c.2197A>C (p.Ser733Arg)
c.1423A>C (p.Ser475Arg)
c.1336A>C (p.Ser446Arg)
c.1249A>C (p.Ser417Arg)
c.772-1047A>C (n.772-1047A>C)
n.1056A>C
17g.46024070A>GCA399984502MAPTc.1138A>G (p.Ser380Gly)
c.1051A>G (p.Ser351Gly)
c.1225A>G (p.Ser409Gly)
n.451A>G
n.409A>G
n.643A>G
c.2401A>G (p.Ser801Gly)
c.2110A>G (p.Ser704Gly)
c.1045A>G (p.Ser349Gly)
c.1174A>G (p.Ser392Gly)
c.2176A>G (p.Ser726Gly)
c.958A>G (p.Ser320Gly)
c.2230A>G (p.Ser744Gly)
c.1132A>G (p.Ser378Gly)
n.6417A>G
c.2488A>G (p.Ser830Gly)
c.2395A>G (p.Ser799Gly)
c.2314A>G (p.Ser772Gly)
c.2290A>G (p.Ser764Gly)
c.2197A>G (p.Ser733Gly)
c.1423A>G (p.Ser475Gly)
c.1336A>G (p.Ser446Gly)
c.1249A>G (p.Ser417Gly)
c.772-1047A>G (n.772-1047A>G)
n.1056A>G
17g.46024070A>TCA399984501MAPTc.1138A>T (p.Ser380Cys)
c.1051A>T (p.Ser351Cys)
c.1225A>T (p.Ser409Cys)
n.451A>T
n.409A>T
n.643A>T
c.2401A>T (p.Ser801Cys)
c.2110A>T (p.Ser704Cys)
c.1045A>T (p.Ser349Cys)
c.1174A>T (p.Ser392Cys)
c.2176A>T (p.Ser726Cys)
c.958A>T (p.Ser320Cys)
c.2230A>T (p.Ser744Cys)
c.1132A>T (p.Ser378Cys)
n.6417A>T
c.2488A>T (p.Ser830Cys)
c.2395A>T (p.Ser799Cys)
c.2314A>T (p.Ser772Cys)
c.2290A>T (p.Ser764Cys)
c.2197A>T (p.Ser733Cys)
c.1423A>T (p.Ser475Cys)
c.1336A>T (p.Ser446Cys)
c.1249A>T (p.Ser417Cys)
c.772-1047A>T (n.772-1047A>T)
n.1056A>T
17g.46024071G>ACA399984503MAPTc.1139G>A (p.Ser380Asn)
c.1052G>A (p.Ser351Asn)
c.1226G>A (p.Ser409Asn)
n.452G>A
n.410G>A
n.644G>A
c.2402G>A (p.Ser801Asn)
c.2111G>A (p.Ser704Asn)
c.1046G>A (p.Ser349Asn)
c.1175G>A (p.Ser392Asn)
c.2177G>A (p.Ser726Asn)
c.959G>A (p.Ser320Asn)
c.2231G>A (p.Ser744Asn)
c.1133G>A (p.Ser378Asn)
n.6418G>A
c.2489G>A (p.Ser830Asn)
c.2396G>A (p.Ser799Asn)
c.2315G>A (p.Ser772Asn)
c.2291G>A (p.Ser764Asn)
c.2198G>A (p.Ser733Asn)
c.1424G>A (p.Ser475Asn)
c.1337G>A (p.Ser446Asn)
c.1250G>A (p.Ser417Asn)
c.772-1046G>A (n.772-1046G>A)
n.1057G>A
 gnomAD v4
17g.46024071G>CCA399984504MAPTc.1139G>C (p.Ser380Thr)
c.1052G>C (p.Ser351Thr)
c.1226G>C (p.Ser409Thr)
n.452G>C
n.410G>C
n.644G>C
c.2402G>C (p.Ser801Thr)
c.2111G>C (p.Ser704Thr)
c.1046G>C (p.Ser349Thr)
c.1175G>C (p.Ser392Thr)
c.2177G>C (p.Ser726Thr)
c.959G>C (p.Ser320Thr)
c.2231G>C (p.Ser744Thr)
c.1133G>C (p.Ser378Thr)
n.6418G>C
c.2489G>C (p.Ser830Thr)
c.2396G>C (p.Ser799Thr)
c.2315G>C (p.Ser772Thr)
c.2291G>C (p.Ser764Thr)
c.2198G>C (p.Ser733Thr)
c.1424G>C (p.Ser475Thr)
c.1337G>C (p.Ser446Thr)
c.1250G>C (p.Ser417Thr)
c.772-1046G>C (n.772-1046G>C)
n.1057G>C
 gnomAD v4
17g.46024071G>TCA399984505MAPTc.1139G>T (p.Ser380Ile)
c.1052G>T (p.Ser351Ile)
c.1226G>T (p.Ser409Ile)
n.452G>T
n.410G>T
n.644G>T
c.2402G>T (p.Ser801Ile)
c.2111G>T (p.Ser704Ile)
c.1046G>T (p.Ser349Ile)
c.1175G>T (p.Ser392Ile)
c.2177G>T (p.Ser726Ile)
c.959G>T (p.Ser320Ile)
c.2231G>T (p.Ser744Ile)
c.1133G>T (p.Ser378Ile)
n.6418G>T
c.2489G>T (p.Ser830Ile)
c.2396G>T (p.Ser799Ile)
c.2315G>T (p.Ser772Ile)
c.2291G>T (p.Ser764Ile)
c.2198G>T (p.Ser733Ile)
c.1424G>T (p.Ser475Ile)
c.1337G>T (p.Ser446Ile)
c.1250G>T (p.Ser417Ile)
c.772-1046G>T (n.772-1046G>T)
n.1057G>T
17g.46024072C>ACA399984506MAPTc.1140C>A (p.Ser380Arg)
c.1053C>A (p.Ser351Arg)
c.1227C>A (p.Ser409Arg)
n.453C>A
n.411C>A
n.645C>A
c.2403C>A (p.Ser801Arg)
c.2112C>A (p.Ser704Arg)
c.1047C>A (p.Ser349Arg)
c.1176C>A (p.Ser392Arg)
c.2178C>A (p.Ser726Arg)
c.960C>A (p.Ser320Arg)
c.2232C>A (p.Ser744Arg)
c.1134C>A (p.Ser378Arg)
n.6419C>A
c.2490C>A (p.Ser830Arg)
c.2397C>A (p.Ser799Arg)
c.2316C>A (p.Ser772Arg)
c.2292C>A (p.Ser764Arg)
c.2199C>A (p.Ser733Arg)
c.1425C>A (p.Ser475Arg)
c.1338C>A (p.Ser446Arg)
c.1251C>A (p.Ser417Arg)
c.772-1045C>A (n.772-1045C>A)
n.1058C>A
 gnomAD v4
17g.46024072C>GCA399984507MAPTc.1140C>G (p.Ser380Arg)
c.1053C>G (p.Ser351Arg)
c.1227C>G (p.Ser409Arg)
n.453C>G
n.411C>G
n.645C>G
c.2403C>G (p.Ser801Arg)
c.2112C>G (p.Ser704Arg)
c.1047C>G (p.Ser349Arg)
c.1176C>G (p.Ser392Arg)
c.2178C>G (p.Ser726Arg)
c.960C>G (p.Ser320Arg)
c.2232C>G (p.Ser744Arg)
c.1134C>G (p.Ser378Arg)
n.6419C>G
c.2490C>G (p.Ser830Arg)
c.2397C>G (p.Ser799Arg)
c.2316C>G (p.Ser772Arg)
c.2292C>G (p.Ser764Arg)
c.2199C>G (p.Ser733Arg)
c.1425C>G (p.Ser475Arg)
c.1338C>G (p.Ser446Arg)
c.1251C>G (p.Ser417Arg)
c.772-1045C>G (n.772-1045C>G)
n.1058C>G
17g.46024072C>TCA500371484MAPTc.1140C>T (p.Ser380=)
c.1053C>T (p.Ser351=)
c.1227C>T (p.Ser409=)
n.453C>T
n.411C>T
n.645C>T
c.2403C>T (p.Ser801=)
c.2112C>T (p.Ser704=)
c.1047C>T (p.Ser349=)
c.1176C>T (p.Ser392=)
c.2178C>T (p.Ser726=)
c.960C>T (p.Ser320=)
c.2232C>T (p.Ser744=)
c.1134C>T (p.Ser378=)
n.6419C>T
c.2490C>T (p.Ser830=)
c.2397C>T (p.Ser799=)
c.2316C>T (p.Ser772=)
c.2292C>T (p.Ser764=)
c.2199C>T (p.Ser733=)
c.1425C>T (p.Ser475=)
c.1338C>T (p.Ser446=)
c.1251C>T (p.Ser417=)
c.772-1045C>T (n.772-1045C>T)
n.1058C>T
 gnomAD v4
17g.46024073A=CA2262106940MAPTc.1141A= (p.Asn381=)
c.1054A= (p.Asn352=)
c.1228A= (p.Asn410=)
n.454A=
n.412A=
n.646A=
c.2404A= (p.Asn802=)
c.2113A= (p.Asn705=)
c.1048A= (p.Asn350=)
c.1177A= (p.Asn393=)
c.2179A= (p.Asn727=)
c.961A= (p.Asn321=)
c.2233A= (p.Asn745=)
c.1135A= (p.Asn379=)
n.6420A=
c.2491A= (p.Asn831=)
c.2398A= (p.Asn800=)
c.2317A= (p.Asn773=)
c.2293A= (p.Asn765=)
c.2200A= (p.Asn734=)
c.1426A= (p.Asn476=)
c.1339A= (p.Asn447=)
c.1252A= (p.Asn418=)
c.772-1044A= (n.772-1044A=)
n.1059A=
17g.46024073A>CCA8618263MAPTc.1141A>C (p.Asn381His)
c.1054A>C (p.Asn352His)
c.1228A>C (p.Asn410His)
n.454A>C
n.412A>C
n.646A>C
c.2404A>C (p.Asn802His)
c.2113A>C (p.Asn705His)
c.1048A>C (p.Asn350His)
c.1177A>C (p.Asn393His)
c.2179A>C (p.Asn727His)
c.961A>C (p.Asn321His)
c.2233A>C (p.Asn745His)
c.1135A>C (p.Asn379His)
n.6420A>C
c.2491A>C (p.Asn831His)
c.2398A>C (p.Asn800His)
c.2317A>C (p.Asn773His)
c.2293A>C (p.Asn765His)
c.2200A>C (p.Asn734His)
c.1426A>C (p.Asn476His)
c.1339A>C (p.Asn447His)
c.1252A>C (p.Asn418His)
c.772-1044A>C (n.772-1044A>C)
n.1059A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46024073A>GCA399984508MAPTc.1141A>G (p.Asn381Asp)
c.1054A>G (p.Asn352Asp)
c.1228A>G (p.Asn410Asp)
n.454A>G
n.412A>G
n.646A>G
c.2404A>G (p.Asn802Asp)
c.2113A>G (p.Asn705Asp)
c.1048A>G (p.Asn350Asp)
c.1177A>G (p.Asn393Asp)
c.2179A>G (p.Asn727Asp)
c.961A>G (p.Asn321Asp)
c.2233A>G (p.Asn745Asp)
c.1135A>G (p.Asn379Asp)
n.6420A>G
c.2491A>G (p.Asn831Asp)
c.2398A>G (p.Asn800Asp)
c.2317A>G (p.Asn773Asp)
c.2293A>G (p.Asn765Asp)
c.2200A>G (p.Asn734Asp)
c.1426A>G (p.Asn476Asp)
c.1339A>G (p.Asn447Asp)
c.1252A>G (p.Asn418Asp)
c.772-1044A>G (n.772-1044A>G)
n.1059A>G
17g.46024073A>TCA399984509MAPTc.1141A>T (p.Asn381Tyr)
c.1054A>T (p.Asn352Tyr)
c.1228A>T (p.Asn410Tyr)
n.454A>T
n.412A>T
n.646A>T
c.2404A>T (p.Asn802Tyr)
c.2113A>T (p.Asn705Tyr)
c.1048A>T (p.Asn350Tyr)
c.1177A>T (p.Asn393Tyr)
c.2179A>T (p.Asn727Tyr)
c.961A>T (p.Asn321Tyr)
c.2233A>T (p.Asn745Tyr)
c.1135A>T (p.Asn379Tyr)
n.6420A>T
c.2491A>T (p.Asn831Tyr)
c.2398A>T (p.Asn800Tyr)
c.2317A>T (p.Asn773Tyr)
c.2293A>T (p.Asn765Tyr)
c.2200A>T (p.Asn734Tyr)
c.1426A>T (p.Asn476Tyr)
c.1339A>T (p.Asn447Tyr)
c.1252A>T (p.Asn418Tyr)
c.772-1044A>T (n.772-1044A>T)
n.1059A>T
17g.46024074dupCA2840625566MAPTc.1142dup (p.Asn381LysfsTer21)
c.1055dup (p.Asn352LysfsTer21)
c.1229dup (p.Asn410LysfsTer21)
n.455dup
n.413dup
n.647dup
c.2405dup (p.Asn802LysfsTer21)
c.2114dup (p.Asn705LysfsTer21)
c.1049dup (p.Asn350LysfsTer21)
c.1178dup (p.Asn393LysfsTer21)
c.2180dup (p.Asn727LysfsTer21)
c.962dup (p.Asn321LysfsTer21)
c.2234dup (p.Asn745LysfsTer21)
c.1136dup (p.Asn379LysfsTer21)
n.6421dup
c.2492dup (p.Asn831LysfsTer21)
c.2399dup (p.Asn800LysfsTer21)
c.2318dup (p.Asn773LysfsTer21)
c.2294dup (p.Asn765LysfsTer21)
c.2201dup (p.Asn734LysfsTer21)
c.1427dup (p.Asn476LysfsTer21)
c.1340dup (p.Asn447LysfsTer21)
c.1253dup (p.Asn418LysfsTer21)
c.772-1043dup (n.772-1043dup)
n.1060dup
17g.46024074A>CCA399984510MAPTc.1142A>C (p.Asn381Thr)
c.1055A>C (p.Asn352Thr)
c.1229A>C (p.Asn410Thr)
n.455A>C
n.413A>C
n.647A>C
c.2405A>C (p.Asn802Thr)
c.2114A>C (p.Asn705Thr)
c.1049A>C (p.Asn350Thr)
c.1178A>C (p.Asn393Thr)
c.2180A>C (p.Asn727Thr)
c.962A>C (p.Asn321Thr)
c.2234A>C (p.Asn745Thr)
c.1136A>C (p.Asn379Thr)
n.6421A>C
c.2492A>C (p.Asn831Thr)
c.2399A>C (p.Asn800Thr)
c.2318A>C (p.Asn773Thr)
c.2294A>C (p.Asn765Thr)
c.2201A>C (p.Asn734Thr)
c.1427A>C (p.Asn476Thr)
c.1340A>C (p.Asn447Thr)
c.1253A>C (p.Asn418Thr)
c.772-1043A>C (n.772-1043A>C)
n.1060A>C
17g.46024074A>GCA399984511MAPTc.1142A>G (p.Asn381Ser)
c.1055A>G (p.Asn352Ser)
c.1229A>G (p.Asn410Ser)
n.455A>G
n.413A>G
n.647A>G
c.2405A>G (p.Asn802Ser)
c.2114A>G (p.Asn705Ser)
c.1049A>G (p.Asn350Ser)
c.1178A>G (p.Asn393Ser)
c.2180A>G (p.Asn727Ser)
c.962A>G (p.Asn321Ser)
c.2234A>G (p.Asn745Ser)
c.1136A>G (p.Asn379Ser)
n.6421A>G
c.2492A>G (p.Asn831Ser)
c.2399A>G (p.Asn800Ser)
c.2318A>G (p.Asn773Ser)
c.2294A>G (p.Asn765Ser)
c.2201A>G (p.Asn734Ser)
c.1427A>G (p.Asn476Ser)
c.1340A>G (p.Asn447Ser)
c.1253A>G (p.Asn418Ser)
c.772-1043A>G (n.772-1043A>G)
n.1060A>G
17g.46024074A>TCA399984512MAPTc.1142A>T (p.Asn381Ile)
c.1055A>T (p.Asn352Ile)
c.1229A>T (p.Asn410Ile)
n.455A>T
n.413A>T
n.647A>T
c.2405A>T (p.Asn802Ile)
c.2114A>T (p.Asn705Ile)
c.1049A>T (p.Asn350Ile)
c.1178A>T (p.Asn393Ile)
c.2180A>T (p.Asn727Ile)
c.962A>T (p.Asn321Ile)
c.2234A>T (p.Asn745Ile)
c.1136A>T (p.Asn379Ile)
n.6421A>T
c.2492A>T (p.Asn831Ile)
c.2399A>T (p.Asn800Ile)
c.2318A>T (p.Asn773Ile)
c.2294A>T (p.Asn765Ile)
c.2201A>T (p.Asn734Ile)
c.1427A>T (p.Asn476Ile)
c.1340A>T (p.Asn447Ile)
c.1253A>T (p.Asn418Ile)
c.772-1043A>T (n.772-1043A>T)
n.1060A>T
17g.46024075T>ACA399984514MAPTc.1143T>A (p.Asn381Lys)
c.1056T>A (p.Asn352Lys)
c.1230T>A (p.Asn410Lys)
n.456T>A
n.414T>A
n.648T>A
c.2406T>A (p.Asn802Lys)
c.2115T>A (p.Asn705Lys)
c.1050T>A (p.Asn350Lys)
c.1179T>A (p.Asn393Lys)
c.2181T>A (p.Asn727Lys)
c.963T>A (p.Asn321Lys)
c.2235T>A (p.Asn745Lys)
c.1137T>A (p.Asn379Lys)
n.6422T>A
c.2493T>A (p.Asn831Lys)
c.2400T>A (p.Asn800Lys)
c.2319T>A (p.Asn773Lys)
c.2295T>A (p.Asn765Lys)
c.2202T>A (p.Asn734Lys)
c.1428T>A (p.Asn476Lys)
c.1341T>A (p.Asn447Lys)
c.1254T>A (p.Asn418Lys)
c.772-1042T>A (n.772-1042T>A)
n.1061T>A
 gnomAD v4
17g.46024075T>CCA8618264MAPTc.1143T>C (p.Asn381=)
c.1056T>C (p.Asn352=)
c.1230T>C (p.Asn410=)
n.456T>C
n.414T>C
n.648T>C
c.2406T>C (p.Asn802=)
c.2115T>C (p.Asn705=)
c.1050T>C (p.Asn350=)
c.1179T>C (p.Asn393=)
c.2181T>C (p.Asn727=)
c.963T>C (p.Asn321=)
c.2235T>C (p.Asn745=)
c.1137T>C (p.Asn379=)
n.6422T>C
c.2493T>C (p.Asn831=)
c.2400T>C (p.Asn800=)
c.2319T>C (p.Asn773=)
c.2295T>C (p.Asn765=)
c.2202T>C (p.Asn734=)
c.1428T>C (p.Asn476=)
c.1341T>C (p.Asn447=)
c.1254T>C (p.Asn418=)
c.772-1042T>C (n.772-1042T>C)
n.1061T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46024075T>GCA399984513MAPTc.1143T>G (p.Asn381Lys)
c.1056T>G (p.Asn352Lys)
c.1230T>G (p.Asn410Lys)
n.456T>G
n.414T>G
n.648T>G
c.2406T>G (p.Asn802Lys)
c.2115T>G (p.Asn705Lys)
c.1050T>G (p.Asn350Lys)
c.1179T>G (p.Asn393Lys)
c.2181T>G (p.Asn727Lys)
c.963T>G (p.Asn321Lys)
c.2235T>G (p.Asn745Lys)
c.1137T>G (p.Asn379Lys)
n.6422T>G
c.2493T>G (p.Asn831Lys)
c.2400T>G (p.Asn800Lys)
c.2319T>G (p.Asn773Lys)
c.2295T>G (p.Asn765Lys)
c.2202T>G (p.Asn734Lys)
c.1428T>G (p.Asn476Lys)
c.1341T>G (p.Asn447Lys)
c.1254T>G (p.Asn418Lys)
c.772-1042T>G (n.772-1042T>G)
n.1061T>G
 gnomAD v4
17g.46024075T=CA2262106941MAPTc.1143T= (p.Asn381=)
c.1056T= (p.Asn352=)
c.1230T= (p.Asn410=)
n.456T=
n.414T=
n.648T=
c.2406T= (p.Asn802=)
c.2115T= (p.Asn705=)
c.1050T= (p.Asn350=)
c.1179T= (p.Asn393=)
c.2181T= (p.Asn727=)
c.963T= (p.Asn321=)
c.2235T= (p.Asn745=)
c.1137T= (p.Asn379=)
n.6422T=
c.2493T= (p.Asn831=)
c.2400T= (p.Asn800=)
c.2319T= (p.Asn773=)
c.2295T= (p.Asn765=)
c.2202T= (p.Asn734=)
c.1428T= (p.Asn476=)
c.1341T= (p.Asn447=)
c.1254T= (p.Asn418=)
c.772-1042T= (n.772-1042T=)
n.1061T=
17g.46024076G>ACA399984515MAPTc.1144G>A (p.Val382Ile)
c.1057G>A (p.Val353Ile)
c.1231G>A (p.Val411Ile)
n.457G>A
n.415G>A
n.649G>A
c.2407G>A (p.Val803Ile)
c.2116G>A (p.Val706Ile)
c.1051G>A (p.Val351Ile)
c.1180G>A (p.Val394Ile)
c.2182G>A (p.Val728Ile)
c.964G>A (p.Val322Ile)
c.2236G>A (p.Val746Ile)
c.1138G>A (p.Val380Ile)
n.6423G>A
c.2494G>A (p.Val832Ile)
c.2401G>A (p.Val801Ile)
c.2320G>A (p.Val774Ile)
c.2296G>A (p.Val766Ile)
c.2203G>A (p.Val735Ile)
c.1429G>A (p.Val477Ile)
c.1342G>A (p.Val448Ile)
c.1255G>A (p.Val419Ile)
c.772-1041G>A (n.772-1041G>A)
n.1062G>A
17g.46024076G>CCA399984516MAPTc.1144G>C (p.Val382Leu)
c.1057G>C (p.Val353Leu)
c.1231G>C (p.Val411Leu)
n.457G>C
n.415G>C
n.649G>C
c.2407G>C (p.Val803Leu)
c.2116G>C (p.Val706Leu)
c.1051G>C (p.Val351Leu)
c.1180G>C (p.Val394Leu)
c.2182G>C (p.Val728Leu)
c.964G>C (p.Val322Leu)
c.2236G>C (p.Val746Leu)
c.1138G>C (p.Val380Leu)
n.6423G>C
c.2494G>C (p.Val832Leu)
c.2401G>C (p.Val801Leu)
c.2320G>C (p.Val774Leu)
c.2296G>C (p.Val766Leu)
c.2203G>C (p.Val735Leu)
c.1429G>C (p.Val477Leu)
c.1342G>C (p.Val448Leu)
c.1255G>C (p.Val419Leu)
c.772-1041G>C (n.772-1041G>C)
n.1062G>C
17g.46024076G>TCA399984517MAPTc.1144G>T (p.Val382Phe)
c.1057G>T (p.Val353Phe)
c.1231G>T (p.Val411Phe)
n.457G>T
n.415G>T
n.649G>T
c.2407G>T (p.Val803Phe)
c.2116G>T (p.Val706Phe)
c.1051G>T (p.Val351Phe)
c.1180G>T (p.Val394Phe)
c.2182G>T (p.Val728Phe)
c.964G>T (p.Val322Phe)
c.2236G>T (p.Val746Phe)
c.1138G>T (p.Val380Phe)
n.6423G>T
c.2494G>T (p.Val832Phe)
c.2401G>T (p.Val801Phe)
c.2320G>T (p.Val774Phe)
c.2296G>T (p.Val766Phe)
c.2203G>T (p.Val735Phe)
c.1429G>T (p.Val477Phe)
c.1342G>T (p.Val448Phe)
c.1255G>T (p.Val419Phe)
c.772-1041G>T (n.772-1041G>T)
n.1062G>T
17g.46024077T>ACA399984518MAPTc.1145T>A (p.Val382Asp)
c.1058T>A (p.Val353Asp)
c.1232T>A (p.Val411Asp)
n.458T>A
n.416T>A
n.650T>A
c.2408T>A (p.Val803Asp)
c.2117T>A (p.Val706Asp)
c.1052T>A (p.Val351Asp)
c.1181T>A (p.Val394Asp)
c.2183T>A (p.Val728Asp)
c.965T>A (p.Val322Asp)
c.2237T>A (p.Val746Asp)
c.1139T>A (p.Val380Asp)
n.6424T>A
c.2495T>A (p.Val832Asp)
c.2402T>A (p.Val801Asp)
c.2321T>A (p.Val774Asp)
c.2297T>A (p.Val766Asp)
c.2204T>A (p.Val735Asp)
c.1430T>A (p.Val477Asp)
c.1343T>A (p.Val448Asp)
c.1256T>A (p.Val419Asp)
c.772-1040T>A (n.772-1040T>A)
n.1063T>A
17g.46024077T>CCA399984519MAPTc.1145T>C (p.Val382Ala)
c.1058T>C (p.Val353Ala)
c.1232T>C (p.Val411Ala)
n.458T>C
n.416T>C
n.650T>C
c.2408T>C (p.Val803Ala)
c.2117T>C (p.Val706Ala)
c.1052T>C (p.Val351Ala)
c.1181T>C (p.Val394Ala)
c.2183T>C (p.Val728Ala)
c.965T>C (p.Val322Ala)
c.2237T>C (p.Val746Ala)
c.1139T>C (p.Val380Ala)
n.6424T>C
c.2495T>C (p.Val832Ala)
c.2402T>C (p.Val801Ala)
c.2321T>C (p.Val774Ala)
c.2297T>C (p.Val766Ala)
c.2204T>C (p.Val735Ala)
c.1430T>C (p.Val477Ala)
c.1343T>C (p.Val448Ala)
c.1256T>C (p.Val419Ala)
c.772-1040T>C (n.772-1040T>C)
n.1063T>C
17g.46024077T>GCA399984520MAPTc.1145T>G (p.Val382Gly)
c.1058T>G (p.Val353Gly)
c.1232T>G (p.Val411Gly)
n.458T>G
n.416T>G
n.650T>G
c.2408T>G (p.Val803Gly)
c.2117T>G (p.Val706Gly)
c.1052T>G (p.Val351Gly)
c.1181T>G (p.Val394Gly)
c.2183T>G (p.Val728Gly)
c.965T>G (p.Val322Gly)
c.2237T>G (p.Val746Gly)
c.1139T>G (p.Val380Gly)
n.6424T>G
c.2495T>G (p.Val832Gly)
c.2402T>G (p.Val801Gly)
c.2321T>G (p.Val774Gly)
c.2297T>G (p.Val766Gly)
c.2204T>G (p.Val735Gly)
c.1430T>G (p.Val477Gly)
c.1343T>G (p.Val448Gly)
c.1256T>G (p.Val419Gly)
c.772-1040T>G (n.772-1040T>G)
n.1063T>G
17g.46024078C>ACA500371486MAPTc.1146C>A (p.Val382=)
c.1059C>A (p.Val353=)
c.1233C>A (p.Val411=)
n.459C>A
n.417C>A
n.651C>A
c.2409C>A (p.Val803=)
c.2118C>A (p.Val706=)
c.1053C>A (p.Val351=)
c.1182C>A (p.Val394=)
c.2184C>A (p.Val728=)
c.966C>A (p.Val322=)
c.2238C>A (p.Val746=)
c.1140C>A (p.Val380=)
n.6425C>A
c.2496C>A (p.Val832=)
c.2403C>A (p.Val801=)
c.2322C>A (p.Val774=)
c.2298C>A (p.Val766=)
c.2205C>A (p.Val735=)
c.1431C>A (p.Val477=)
c.1344C>A (p.Val448=)
c.1257C>A (p.Val419=)
c.772-1039C>A (n.772-1039C>A)
n.1064C>A
17g.46024078C>GCA500371485MAPTc.1146C>G (p.Val382=)
c.1059C>G (p.Val353=)
c.1233C>G (p.Val411=)
n.459C>G
n.417C>G
n.651C>G
c.2409C>G (p.Val803=)
c.2118C>G (p.Val706=)
c.1053C>G (p.Val351=)
c.1182C>G (p.Val394=)
c.2184C>G (p.Val728=)
c.966C>G (p.Val322=)
c.2238C>G (p.Val746=)
c.1140C>G (p.Val380=)
n.6425C>G
c.2496C>G (p.Val832=)
c.2403C>G (p.Val801=)
c.2322C>G (p.Val774=)
c.2298C>G (p.Val766=)
c.2205C>G (p.Val735=)
c.1431C>G (p.Val477=)
c.1344C>G (p.Val448=)
c.1257C>G (p.Val419=)
c.772-1039C>G (n.772-1039C>G)
n.1064C>G
 COSMIC COSMIC
17g.46024078C>TCA500371487MAPTc.1146C>T (p.Val382=)
c.1059C>T (p.Val353=)
c.1233C>T (p.Val411=)
n.459C>T
n.417C>T
n.651C>T
c.2409C>T (p.Val803=)
c.2118C>T (p.Val706=)
c.1053C>T (p.Val351=)
c.1182C>T (p.Val394=)
c.2184C>T (p.Val728=)
c.966C>T (p.Val322=)
c.2238C>T (p.Val746=)
c.1140C>T (p.Val380=)
n.6425C>T
c.2496C>T (p.Val832=)
c.2403C>T (p.Val801=)
c.2322C>T (p.Val774=)
c.2298C>T (p.Val766=)
c.2205C>T (p.Val735=)
c.1431C>T (p.Val477=)
c.1344C>T (p.Val448=)
c.1257C>T (p.Val419=)
c.772-1039C>T (n.772-1039C>T)
n.1064C>T
17g.46024079T>ACA399984521MAPTc.1147T>A (p.Ser383Thr)
c.1060T>A (p.Ser354Thr)
c.1234T>A (p.Ser412Thr)
n.460T>A
n.418T>A
n.652T>A
c.2410T>A (p.Ser804Thr)
c.2119T>A (p.Ser707Thr)
c.1054T>A (p.Ser352Thr)
c.1183T>A (p.Ser395Thr)
c.2185T>A (p.Ser729Thr)
c.967T>A (p.Ser323Thr)
c.2239T>A (p.Ser747Thr)
c.1141T>A (p.Ser381Thr)
n.6426T>A
c.2497T>A (p.Ser833Thr)
c.2404T>A (p.Ser802Thr)
c.2323T>A (p.Ser775Thr)
c.2299T>A (p.Ser767Thr)
c.2206T>A (p.Ser736Thr)
c.1432T>A (p.Ser478Thr)
c.1345T>A (p.Ser449Thr)
c.1258T>A (p.Ser420Thr)
c.772-1038T>A (n.772-1038T>A)
n.1065T>A
17g.46024079T>CCA399984522MAPTc.1147T>C (p.Ser383Pro)
c.1060T>C (p.Ser354Pro)
c.1234T>C (p.Ser412Pro)
n.460T>C
n.418T>C
n.652T>C
c.2410T>C (p.Ser804Pro)
c.2119T>C (p.Ser707Pro)
c.1054T>C (p.Ser352Pro)
c.1183T>C (p.Ser395Pro)
c.2185T>C (p.Ser729Pro)
c.967T>C (p.Ser323Pro)
c.2239T>C (p.Ser747Pro)
c.1141T>C (p.Ser381Pro)
n.6426T>C
c.2497T>C (p.Ser833Pro)
c.2404T>C (p.Ser802Pro)
c.2323T>C (p.Ser775Pro)
c.2299T>C (p.Ser767Pro)
c.2206T>C (p.Ser736Pro)
c.1432T>C (p.Ser478Pro)
c.1345T>C (p.Ser449Pro)
c.1258T>C (p.Ser420Pro)
c.772-1038T>C (n.772-1038T>C)
n.1065T>C
17g.46024079T>GCA399984523MAPTc.1147T>G (p.Ser383Ala)
c.1060T>G (p.Ser354Ala)
c.1234T>G (p.Ser412Ala)
n.460T>G
n.418T>G
n.652T>G
c.2410T>G (p.Ser804Ala)
c.2119T>G (p.Ser707Ala)
c.1054T>G (p.Ser352Ala)
c.1183T>G (p.Ser395Ala)
c.2185T>G (p.Ser729Ala)
c.967T>G (p.Ser323Ala)
c.2239T>G (p.Ser747Ala)
c.1141T>G (p.Ser381Ala)
n.6426T>G
c.2497T>G (p.Ser833Ala)
c.2404T>G (p.Ser802Ala)
c.2323T>G (p.Ser775Ala)
c.2299T>G (p.Ser767Ala)
c.2206T>G (p.Ser736Ala)
c.1432T>G (p.Ser478Ala)
c.1345T>G (p.Ser449Ala)
c.1258T>G (p.Ser420Ala)
c.772-1038T>G (n.772-1038T>G)
n.1065T>G
17g.46024080C>ACA399984524MAPTc.1148C>A (p.Ser383Tyr)
c.1061C>A (p.Ser354Tyr)
c.1235C>A (p.Ser412Tyr)
n.461C>A
n.419C>A
n.653C>A
c.2411C>A (p.Ser804Tyr)
c.2120C>A (p.Ser707Tyr)
c.1055C>A (p.Ser352Tyr)
c.1184C>A (p.Ser395Tyr)
c.2186C>A (p.Ser729Tyr)
c.968C>A (p.Ser323Tyr)
c.2240C>A (p.Ser747Tyr)
c.1142C>A (p.Ser381Tyr)
n.6427C>A
c.2498C>A (p.Ser833Tyr)
c.2405C>A (p.Ser802Tyr)
c.2324C>A (p.Ser775Tyr)
c.2300C>A (p.Ser767Tyr)
c.2207C>A (p.Ser736Tyr)
c.1433C>A (p.Ser478Tyr)
c.1346C>A (p.Ser449Tyr)
c.1259C>A (p.Ser420Tyr)
c.772-1037C>A (n.772-1037C>A)
n.1066C>A
 gnomAD v4
17g.46024080C=CA2262106942MAPTc.1148C= (p.Ser383=)
c.1061C= (p.Ser354=)
c.1235C= (p.Ser412=)
n.461C=
n.419C=
n.653C=
c.2411C= (p.Ser804=)
c.2120C= (p.Ser707=)
c.1055C= (p.Ser352=)
c.1184C= (p.Ser395=)
c.2186C= (p.Ser729=)
c.968C= (p.Ser323=)
c.2240C= (p.Ser747=)
c.1142C= (p.Ser381=)
n.6427C=
c.2498C= (p.Ser833=)
c.2405C= (p.Ser802=)
c.2324C= (p.Ser775=)
c.2300C= (p.Ser767=)
c.2207C= (p.Ser736=)
c.1433C= (p.Ser478=)
c.1346C= (p.Ser449=)
c.1259C= (p.Ser420=)
c.772-1037C= (n.772-1037C=)
n.1066C=
17g.46024080C>GCA399984525MAPTc.1148C>G (p.Ser383Cys)
c.1061C>G (p.Ser354Cys)
c.1235C>G (p.Ser412Cys)
n.461C>G
n.419C>G
n.653C>G
c.2411C>G (p.Ser804Cys)
c.2120C>G (p.Ser707Cys)
c.1055C>G (p.Ser352Cys)
c.1184C>G (p.Ser395Cys)
c.2186C>G (p.Ser729Cys)
c.968C>G (p.Ser323Cys)
c.2240C>G (p.Ser747Cys)
c.1142C>G (p.Ser381Cys)
n.6427C>G
c.2498C>G (p.Ser833Cys)
c.2405C>G (p.Ser802Cys)
c.2324C>G (p.Ser775Cys)
c.2300C>G (p.Ser767Cys)
c.2207C>G (p.Ser736Cys)
c.1433C>G (p.Ser478Cys)
c.1346C>G (p.Ser449Cys)
c.1259C>G (p.Ser420Cys)
c.772-1037C>G (n.772-1037C>G)
n.1066C>G
17g.46024080C>TCA399984526MAPTc.1148C>T (p.Ser383Phe)
c.1061C>T (p.Ser354Phe)
c.1235C>T (p.Ser412Phe)
n.461C>T
n.419C>T
n.653C>T
c.2411C>T (p.Ser804Phe)
c.2120C>T (p.Ser707Phe)
c.1055C>T (p.Ser352Phe)
c.1184C>T (p.Ser395Phe)
c.2186C>T (p.Ser729Phe)
c.968C>T (p.Ser323Phe)
c.2240C>T (p.Ser747Phe)
c.1142C>T (p.Ser381Phe)
n.6427C>T
c.2498C>T (p.Ser833Phe)
c.2405C>T (p.Ser802Phe)
c.2324C>T (p.Ser775Phe)
c.2300C>T (p.Ser767Phe)
c.2207C>T (p.Ser736Phe)
c.1433C>T (p.Ser478Phe)
c.1346C>T (p.Ser449Phe)
c.1259C>T (p.Ser420Phe)
c.772-1037C>T (n.772-1037C>T)
n.1066C>T
 dbSNP gnomAD v3 gnomAD v4
17g.46024081C>ACA500371489MAPTc.1149C>A (p.Ser383=)
c.1062C>A (p.Ser354=)
c.1236C>A (p.Ser412=)
n.462C>A
n.420C>A
n.654C>A
c.2412C>A (p.Ser804=)
c.2121C>A (p.Ser707=)
c.1056C>A (p.Ser352=)
c.1185C>A (p.Ser395=)
c.2187C>A (p.Ser729=)
c.969C>A (p.Ser323=)
c.2241C>A (p.Ser747=)
c.1143C>A (p.Ser381=)
n.6428C>A
c.2499C>A (p.Ser833=)
c.2406C>A (p.Ser802=)
c.2325C>A (p.Ser775=)
c.2301C>A (p.Ser767=)
c.2208C>A (p.Ser736=)
c.1434C>A (p.Ser478=)
c.1347C>A (p.Ser449=)
c.1260C>A (p.Ser420=)
c.772-1036C>A (n.772-1036C>A)
n.1067C>A
17g.46024081C>GCA500371488MAPTc.1149C>G (p.Ser383=)
c.1062C>G (p.Ser354=)
c.1236C>G (p.Ser412=)
n.462C>G
n.420C>G
n.654C>G
c.2412C>G (p.Ser804=)
c.2121C>G (p.Ser707=)
c.1056C>G (p.Ser352=)
c.1185C>G (p.Ser395=)
c.2187C>G (p.Ser729=)
c.969C>G (p.Ser323=)
c.2241C>G (p.Ser747=)
c.1143C>G (p.Ser381=)
n.6428C>G
c.2499C>G (p.Ser833=)
c.2406C>G (p.Ser802=)
c.2325C>G (p.Ser775=)
c.2301C>G (p.Ser767=)
c.2208C>G (p.Ser736=)
c.1434C>G (p.Ser478=)
c.1347C>G (p.Ser449=)
c.1260C>G (p.Ser420=)
c.772-1036C>G (n.772-1036C>G)
n.1067C>G
17g.46024081C>TCA500371490MAPTc.1149C>T (p.Ser383=)
c.1062C>T (p.Ser354=)
c.1236C>T (p.Ser412=)
n.462C>T
n.420C>T
n.654C>T
c.2412C>T (p.Ser804=)
c.2121C>T (p.Ser707=)
c.1056C>T (p.Ser352=)
c.1185C>T (p.Ser395=)
c.2187C>T (p.Ser729=)
c.969C>T (p.Ser323=)
c.2241C>T (p.Ser747=)
c.1143C>T (p.Ser381=)
n.6428C>T
c.2499C>T (p.Ser833=)
c.2406C>T (p.Ser802=)
c.2325C>T (p.Ser775=)
c.2301C>T (p.Ser767=)
c.2208C>T (p.Ser736=)
c.1434C>T (p.Ser478=)
c.1347C>T (p.Ser449=)
c.1260C>T (p.Ser420=)
c.772-1036C>T (n.772-1036C>T)
n.1067C>T
 gnomAD v4
17g.46024082T>ACA399984529MAPTc.1150T>A (p.Ser384Thr)
c.1063T>A (p.Ser355Thr)
c.1237T>A (p.Ser413Thr)
n.463T>A
n.421T>A
n.655T>A
c.2413T>A (p.Ser805Thr)
c.2122T>A (p.Ser708Thr)
c.1057T>A (p.Ser353Thr)
c.1186T>A (p.Ser396Thr)
c.2188T>A (p.Ser730Thr)
c.970T>A (p.Ser324Thr)
c.2242T>A (p.Ser748Thr)
c.1144T>A (p.Ser382Thr)
n.6429T>A
c.2500T>A (p.Ser834Thr)
c.2407T>A (p.Ser803Thr)
c.2326T>A (p.Ser776Thr)
c.2302T>A (p.Ser768Thr)
c.2209T>A (p.Ser737Thr)
c.1435T>A (p.Ser479Thr)
c.1348T>A (p.Ser450Thr)
c.1261T>A (p.Ser421Thr)
c.772-1035T>A (n.772-1035T>A)
n.1068T>A
17g.46024082T>CCA399984528MAPTc.1150T>C (p.Ser384Pro)
c.1063T>C (p.Ser355Pro)
c.1237T>C (p.Ser413Pro)
n.463T>C
n.421T>C
n.655T>C
c.2413T>C (p.Ser805Pro)
c.2122T>C (p.Ser708Pro)
c.1057T>C (p.Ser353Pro)
c.1186T>C (p.Ser396Pro)
c.2188T>C (p.Ser730Pro)
c.970T>C (p.Ser324Pro)
c.2242T>C (p.Ser748Pro)
c.1144T>C (p.Ser382Pro)
n.6429T>C
c.2500T>C (p.Ser834Pro)
c.2407T>C (p.Ser803Pro)
c.2326T>C (p.Ser776Pro)
c.2302T>C (p.Ser768Pro)
c.2209T>C (p.Ser737Pro)
c.1435T>C (p.Ser479Pro)
c.1348T>C (p.Ser450Pro)
c.1261T>C (p.Ser421Pro)
c.772-1035T>C (n.772-1035T>C)
n.1068T>C
17g.46024082T>GCA399984527MAPTc.1150T>G (p.Ser384Ala)
c.1063T>G (p.Ser355Ala)
c.1237T>G (p.Ser413Ala)
n.463T>G
n.421T>G
n.655T>G
c.2413T>G (p.Ser805Ala)
c.2122T>G (p.Ser708Ala)
c.1057T>G (p.Ser353Ala)
c.1186T>G (p.Ser396Ala)
c.2188T>G (p.Ser730Ala)
c.970T>G (p.Ser324Ala)
c.2242T>G (p.Ser748Ala)
c.1144T>G (p.Ser382Ala)
n.6429T>G
c.2500T>G (p.Ser834Ala)
c.2407T>G (p.Ser803Ala)
c.2326T>G (p.Ser776Ala)
c.2302T>G (p.Ser768Ala)
c.2209T>G (p.Ser737Ala)
c.1435T>G (p.Ser479Ala)
c.1348T>G (p.Ser450Ala)
c.1261T>G (p.Ser421Ala)
c.772-1035T>G (n.772-1035T>G)
n.1068T>G
17g.46024083C>ACA399984530MAPTc.1151C>A (p.Ser384Tyr)
c.1064C>A (p.Ser355Tyr)
c.1238C>A (p.Ser413Tyr)
n.464C>A
n.422C>A
n.656C>A
c.2414C>A (p.Ser805Tyr)
c.2123C>A (p.Ser708Tyr)
c.1058C>A (p.Ser353Tyr)
c.1187C>A (p.Ser396Tyr)
c.2189C>A (p.Ser730Tyr)
c.971C>A (p.Ser324Tyr)
c.2243C>A (p.Ser748Tyr)
c.1145C>A (p.Ser382Tyr)
n.6430C>A
c.2501C>A (p.Ser834Tyr)
c.2408C>A (p.Ser803Tyr)
c.2327C>A (p.Ser776Tyr)
c.2303C>A (p.Ser768Tyr)
c.2210C>A (p.Ser737Tyr)
c.1436C>A (p.Ser479Tyr)
c.1349C>A (p.Ser450Tyr)
c.1262C>A (p.Ser421Tyr)
c.772-1034C>A (n.772-1034C>A)
n.1069C>A
17g.46024083C=CA2262106943MAPTc.1151C= (p.Ser384=)
c.1064C= (p.Ser355=)
c.1238C= (p.Ser413=)
n.464C=
n.422C=
n.656C=
c.2414C= (p.Ser805=)
c.2123C= (p.Ser708=)
c.1058C= (p.Ser353=)
c.1187C= (p.Ser396=)
c.2189C= (p.Ser730=)
c.971C= (p.Ser324=)
c.2243C= (p.Ser748=)
c.1145C= (p.Ser382=)
n.6430C=
c.2501C= (p.Ser834=)
c.2408C= (p.Ser803=)
c.2327C= (p.Ser776=)
c.2303C= (p.Ser768=)
c.2210C= (p.Ser737=)
c.1436C= (p.Ser479=)
c.1349C= (p.Ser450=)
c.1262C= (p.Ser421=)
c.772-1034C= (n.772-1034C=)
n.1069C=
17g.46024083C>GCA399984531MAPTc.1151C>G (p.Ser384Cys)
c.1064C>G (p.Ser355Cys)
c.1238C>G (p.Ser413Cys)
n.464C>G
n.422C>G
n.656C>G
c.2414C>G (p.Ser805Cys)
c.2123C>G (p.Ser708Cys)
c.1058C>G (p.Ser353Cys)
c.1187C>G (p.Ser396Cys)
c.2189C>G (p.Ser730Cys)
c.971C>G (p.Ser324Cys)
c.2243C>G (p.Ser748Cys)
c.1145C>G (p.Ser382Cys)
n.6430C>G
c.2501C>G (p.Ser834Cys)
c.2408C>G (p.Ser803Cys)
c.2327C>G (p.Ser776Cys)
c.2303C>G (p.Ser768Cys)
c.2210C>G (p.Ser737Cys)
c.1436C>G (p.Ser479Cys)
c.1349C>G (p.Ser450Cys)
c.1262C>G (p.Ser421Cys)
c.772-1034C>G (n.772-1034C>G)
n.1069C>G
17g.46024083C>TCA8618265MAPTc.1151C>T (p.Ser384Phe)
c.1064C>T (p.Ser355Phe)
c.1238C>T (p.Ser413Phe)
n.464C>T
n.422C>T
n.656C>T
c.2414C>T (p.Ser805Phe)
c.2123C>T (p.Ser708Phe)
c.1058C>T (p.Ser353Phe)
c.1187C>T (p.Ser396Phe)
c.2189C>T (p.Ser730Phe)
c.971C>T (p.Ser324Phe)
c.2243C>T (p.Ser748Phe)
c.1145C>T (p.Ser382Phe)
n.6430C>T
c.2501C>T (p.Ser834Phe)
c.2408C>T (p.Ser803Phe)
c.2327C>T (p.Ser776Phe)
c.2303C>T (p.Ser768Phe)
c.2210C>T (p.Ser737Phe)
c.1436C>T (p.Ser479Phe)
c.1349C>T (p.Ser450Phe)
c.1262C>T (p.Ser421Phe)
c.772-1034C>T (n.772-1034C>T)
n.1069C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46024084C>ACA500371493MAPTc.1152C>A (p.Ser384=)
c.1065C>A (p.Ser355=)
c.1239C>A (p.Ser413=)
n.465C>A
n.423C>A
n.657C>A
c.2415C>A (p.Ser805=)
c.2124C>A (p.Ser708=)
c.1059C>A (p.Ser353=)
c.1188C>A (p.Ser396=)
c.2190C>A (p.Ser730=)
c.972C>A (p.Ser324=)
c.2244C>A (p.Ser748=)
c.1146C>A (p.Ser382=)
n.6431C>A
c.2502C>A (p.Ser834=)
c.2409C>A (p.Ser803=)
c.2328C>A (p.Ser776=)
c.2304C>A (p.Ser768=)
c.2211C>A (p.Ser737=)
c.1437C>A (p.Ser479=)
c.1350C>A (p.Ser450=)
c.1263C>A (p.Ser421=)
c.772-1033C>A (n.772-1033C>A)
n.1070C>A
17g.46024084C>GCA500371491MAPTc.1152C>G (p.Ser384=)
c.1065C>G (p.Ser355=)
c.1239C>G (p.Ser413=)
n.465C>G
n.423C>G
n.657C>G
c.2415C>G (p.Ser805=)
c.2124C>G (p.Ser708=)
c.1059C>G (p.Ser353=)
c.1188C>G (p.Ser396=)
c.2190C>G (p.Ser730=)
c.972C>G (p.Ser324=)
c.2244C>G (p.Ser748=)
c.1146C>G (p.Ser382=)
n.6431C>G
c.2502C>G (p.Ser834=)
c.2409C>G (p.Ser803=)
c.2328C>G (p.Ser776=)
c.2304C>G (p.Ser768=)
c.2211C>G (p.Ser737=)
c.1437C>G (p.Ser479=)
c.1350C>G (p.Ser450=)
c.1263C>G (p.Ser421=)
c.772-1033C>G (n.772-1033C>G)
n.1070C>G
17g.46024084C>TCA500371492MAPTc.1152C>T (p.Ser384=)
c.1065C>T (p.Ser355=)
c.1239C>T (p.Ser413=)
n.465C>T
n.423C>T
n.657C>T
c.2415C>T (p.Ser805=)
c.2124C>T (p.Ser708=)
c.1059C>T (p.Ser353=)
c.1188C>T (p.Ser396=)
c.2190C>T (p.Ser730=)
c.972C>T (p.Ser324=)
c.2244C>T (p.Ser748=)
c.1146C>T (p.Ser382=)
n.6431C>T
c.2502C>T (p.Ser834=)
c.2409C>T (p.Ser803=)
c.2328C>T (p.Ser776=)
c.2304C>T (p.Ser768=)
c.2211C>T (p.Ser737=)
c.1437C>T (p.Ser479=)
c.1350C>T (p.Ser450=)
c.1263C>T (p.Ser421=)
c.772-1033C>T (n.772-1033C>T)
n.1070C>T
17g.46024085A=CA2262106944MAPTc.1153A= (p.Thr385=)
c.1066A= (p.Thr356=)
c.1240A= (p.Thr414=)
n.466A=
n.424A=
n.658A=
c.2416A= (p.Thr806=)
c.2125A= (p.Thr709=)
c.1060A= (p.Thr354=)
c.1189A= (p.Thr397=)
c.2191A= (p.Thr731=)
c.973A= (p.Thr325=)
c.2245A= (p.Thr749=)
c.1147A= (p.Thr383=)
n.6432A=
c.2503A= (p.Thr835=)
c.2410A= (p.Thr804=)
c.2329A= (p.Thr777=)
c.2305A= (p.Thr769=)
c.2212A= (p.Thr738=)
c.1438A= (p.Thr480=)
c.1351A= (p.Thr451=)
c.1264A= (p.Thr422=)
c.772-1032A= (n.772-1032A=)
n.1071A=
17g.46024085A>CCA399984532MAPTc.1153A>C (p.Thr385Pro)
c.1066A>C (p.Thr356Pro)
c.1240A>C (p.Thr414Pro)
n.466A>C
n.424A>C
n.658A>C
c.2416A>C (p.Thr806Pro)
c.2125A>C (p.Thr709Pro)
c.1060A>C (p.Thr354Pro)
c.1189A>C (p.Thr397Pro)
c.2191A>C (p.Thr731Pro)
c.973A>C (p.Thr325Pro)
c.2245A>C (p.Thr749Pro)
c.1147A>C (p.Thr383Pro)
n.6432A>C
c.2503A>C (p.Thr835Pro)
c.2410A>C (p.Thr804Pro)
c.2329A>C (p.Thr777Pro)
c.2305A>C (p.Thr769Pro)
c.2212A>C (p.Thr738Pro)
c.1438A>C (p.Thr480Pro)
c.1351A>C (p.Thr451Pro)
c.1264A>C (p.Thr422Pro)
c.772-1032A>C (n.772-1032A>C)
n.1071A>C
17g.46024085A>GCA8618266MAPTc.1153A>G (p.Thr385Ala)
c.1066A>G (p.Thr356Ala)
c.1240A>G (p.Thr414Ala)
n.466A>G
n.424A>G
n.658A>G
c.2416A>G (p.Thr806Ala)
c.2125A>G (p.Thr709Ala)
c.1060A>G (p.Thr354Ala)
c.1189A>G (p.Thr397Ala)
c.2191A>G (p.Thr731Ala)
c.973A>G (p.Thr325Ala)
c.2245A>G (p.Thr749Ala)
c.1147A>G (p.Thr383Ala)
n.6432A>G
c.2503A>G (p.Thr835Ala)
c.2410A>G (p.Thr804Ala)
c.2329A>G (p.Thr777Ala)
c.2305A>G (p.Thr769Ala)
c.2212A>G (p.Thr738Ala)
c.1438A>G (p.Thr480Ala)
c.1351A>G (p.Thr451Ala)
c.1264A>G (p.Thr422Ala)
c.772-1032A>G (n.772-1032A>G)
n.1071A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46024085A>TCA399984533MAPTc.1153A>T (p.Thr385Ser)
c.1066A>T (p.Thr356Ser)
c.1240A>T (p.Thr414Ser)
n.466A>T
n.424A>T
n.658A>T
c.2416A>T (p.Thr806Ser)
c.2125A>T (p.Thr709Ser)
c.1060A>T (p.Thr354Ser)
c.1189A>T (p.Thr397Ser)
c.2191A>T (p.Thr731Ser)
c.973A>T (p.Thr325Ser)
c.2245A>T (p.Thr749Ser)
c.1147A>T (p.Thr383Ser)
n.6432A>T
c.2503A>T (p.Thr835Ser)
c.2410A>T (p.Thr804Ser)
c.2329A>T (p.Thr777Ser)
c.2305A>T (p.Thr769Ser)
c.2212A>T (p.Thr738Ser)
c.1438A>T (p.Thr480Ser)
c.1351A>T (p.Thr451Ser)
c.1264A>T (p.Thr422Ser)
c.772-1032A>T (n.772-1032A>T)
n.1071A>T
17g.46024086C>ACA399984534MAPTc.1154C>A (p.Thr385Asn)
c.1067C>A (p.Thr356Asn)
c.1241C>A (p.Thr414Asn)
n.467C>A
n.425C>A
n.659C>A
c.2417C>A (p.Thr806Asn)
c.2126C>A (p.Thr709Asn)
c.1061C>A (p.Thr354Asn)
c.1190C>A (p.Thr397Asn)
c.2192C>A (p.Thr731Asn)
c.974C>A (p.Thr325Asn)
c.2246C>A (p.Thr749Asn)
c.1148C>A (p.Thr383Asn)
n.6433C>A
c.2504C>A (p.Thr835Asn)
c.2411C>A (p.Thr804Asn)
c.2330C>A (p.Thr777Asn)
c.2306C>A (p.Thr769Asn)
c.2213C>A (p.Thr738Asn)
c.1439C>A (p.Thr480Asn)
c.1352C>A (p.Thr451Asn)
c.1265C>A (p.Thr422Asn)
c.772-1031C>A (n.772-1031C>A)
n.1072C>A
17g.46024086C>GCA399984535MAPTc.1154C>G (p.Thr385Ser)
c.1067C>G (p.Thr356Ser)
c.1241C>G (p.Thr414Ser)
n.467C>G
n.425C>G
n.659C>G
c.2417C>G (p.Thr806Ser)
c.2126C>G (p.Thr709Ser)
c.1061C>G (p.Thr354Ser)
c.1190C>G (p.Thr397Ser)
c.2192C>G (p.Thr731Ser)
c.974C>G (p.Thr325Ser)
c.2246C>G (p.Thr749Ser)
c.1148C>G (p.Thr383Ser)
n.6433C>G
c.2504C>G (p.Thr835Ser)
c.2411C>G (p.Thr804Ser)
c.2330C>G (p.Thr777Ser)
c.2306C>G (p.Thr769Ser)
c.2213C>G (p.Thr738Ser)
c.1439C>G (p.Thr480Ser)
c.1352C>G (p.Thr451Ser)
c.1265C>G (p.Thr422Ser)
c.772-1031C>G (n.772-1031C>G)
n.1072C>G
 gnomAD v4
17g.46024086C>TCA399984536MAPTc.1154C>T (p.Thr385Ile)
c.1067C>T (p.Thr356Ile)
c.1241C>T (p.Thr414Ile)
n.467C>T
n.425C>T
n.659C>T
c.2417C>T (p.Thr806Ile)
c.2126C>T (p.Thr709Ile)
c.1061C>T (p.Thr354Ile)
c.1190C>T (p.Thr397Ile)
c.2192C>T (p.Thr731Ile)
c.974C>T (p.Thr325Ile)
c.2246C>T (p.Thr749Ile)
c.1148C>T (p.Thr383Ile)
n.6433C>T
c.2504C>T (p.Thr835Ile)
c.2411C>T (p.Thr804Ile)
c.2330C>T (p.Thr777Ile)
c.2306C>T (p.Thr769Ile)
c.2213C>T (p.Thr738Ile)
c.1439C>T (p.Thr480Ile)
c.1352C>T (p.Thr451Ile)
c.1265C>T (p.Thr422Ile)
c.772-1031C>T (n.772-1031C>T)
n.1072C>T
17g.46024087C>ACA500371494MAPTc.1155C>A (p.Thr385=)
c.1068C>A (p.Thr356=)
c.1242C>A (p.Thr414=)
n.468C>A
n.426C>A
n.660C>A
c.2418C>A (p.Thr806=)
c.2127C>A (p.Thr709=)
c.1062C>A (p.Thr354=)
c.1191C>A (p.Thr397=)
c.2193C>A (p.Thr731=)
c.975C>A (p.Thr325=)
c.2247C>A (p.Thr749=)
c.1149C>A (p.Thr383=)
n.6434C>A
c.2505C>A (p.Thr835=)
c.2412C>A (p.Thr804=)
c.2331C>A (p.Thr777=)
c.2307C>A (p.Thr769=)
c.2214C>A (p.Thr738=)
c.1440C>A (p.Thr480=)
c.1353C>A (p.Thr451=)
c.1266C>A (p.Thr422=)
c.772-1030C>A (n.772-1030C>A)
n.1073C>A
17g.46024087C=CA2262106945MAPTc.1155C= (p.Thr385=)
c.1068C= (p.Thr356=)
c.1242C= (p.Thr414=)
n.468C=
n.426C=
n.660C=
c.2418C= (p.Thr806=)
c.2127C= (p.Thr709=)
c.1062C= (p.Thr354=)
c.1191C= (p.Thr397=)
c.2193C= (p.Thr731=)
c.975C= (p.Thr325=)
c.2247C= (p.Thr749=)
c.1149C= (p.Thr383=)
n.6434C=
c.2505C= (p.Thr835=)
c.2412C= (p.Thr804=)
c.2331C= (p.Thr777=)
c.2307C= (p.Thr769=)
c.2214C= (p.Thr738=)
c.1440C= (p.Thr480=)
c.1353C= (p.Thr451=)
c.1266C= (p.Thr422=)
c.772-1030C= (n.772-1030C=)
n.1073C=
17g.46024087C>GCA500371495MAPTc.1155C>G (p.Thr385=)
c.1068C>G (p.Thr356=)
c.1242C>G (p.Thr414=)
n.468C>G
n.426C>G
n.660C>G
c.2418C>G (p.Thr806=)
c.2127C>G (p.Thr709=)
c.1062C>G (p.Thr354=)
c.1191C>G (p.Thr397=)
c.2193C>G (p.Thr731=)
c.975C>G (p.Thr325=)
c.2247C>G (p.Thr749=)
c.1149C>G (p.Thr383=)
n.6434C>G
c.2505C>G (p.Thr835=)
c.2412C>G (p.Thr804=)
c.2331C>G (p.Thr777=)
c.2307C>G (p.Thr769=)
c.2214C>G (p.Thr738=)
c.1440C>G (p.Thr480=)
c.1353C>G (p.Thr451=)
c.1266C>G (p.Thr422=)
c.772-1030C>G (n.772-1030C>G)
n.1073C>G
17g.46024087C>TCA8618267MAPTc.1155C>T (p.Thr385=)
c.1068C>T (p.Thr356=)
c.1242C>T (p.Thr414=)
n.468C>T
n.426C>T
n.660C>T
c.2418C>T (p.Thr806=)
c.2127C>T (p.Thr709=)
c.1062C>T (p.Thr354=)
c.1191C>T (p.Thr397=)
c.2193C>T (p.Thr731=)
c.975C>T (p.Thr325=)
c.2247C>T (p.Thr749=)
c.1149C>T (p.Thr383=)
n.6434C>T
c.2505C>T (p.Thr835=)
c.2412C>T (p.Thr804=)
c.2331C>T (p.Thr777=)
c.2307C>T (p.Thr769=)
c.2214C>T (p.Thr738=)
c.1440C>T (p.Thr480=)
c.1353C>T (p.Thr451=)
c.1266C>T (p.Thr422=)
c.772-1030C>T (n.772-1030C>T)
n.1073C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46024088G>ACA8618268MAPTc.1156G>A (p.Gly386Ser)
c.1069G>A (p.Gly357Ser)
c.1243G>A (p.Gly415Ser)
n.469G>A
n.427G>A
n.661G>A
c.2419G>A (p.Gly807Ser)
c.2128G>A (p.Gly710Ser)
c.1063G>A (p.Gly355Ser)
c.1192G>A (p.Gly398Ser)
c.2194G>A (p.Gly732Ser)
c.976G>A (p.Gly326Ser)
c.2248G>A (p.Gly750Ser)
c.1150G>A (p.Gly384Ser)
n.6435G>A
c.2506G>A (p.Gly836Ser)
c.2413G>A (p.Gly805Ser)
c.2332G>A (p.Gly778Ser)
c.2308G>A (p.Gly770Ser)
c.2215G>A (p.Gly739Ser)
c.1441G>A (p.Gly481Ser)
c.1354G>A (p.Gly452Ser)
c.1267G>A (p.Gly423Ser)
c.772-1029G>A (n.772-1029G>A)
n.1074G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.46024088G>CCA399984537MAPTc.1156G>C (p.Gly386Arg)
c.1069G>C (p.Gly357Arg)
c.1243G>C (p.Gly415Arg)
n.469G>C
n.427G>C
n.661G>C
c.2419G>C (p.Gly807Arg)
c.2128G>C (p.Gly710Arg)
c.1063G>C (p.Gly355Arg)
c.1192G>C (p.Gly398Arg)
c.2194G>C (p.Gly732Arg)
c.976G>C (p.Gly326Arg)
c.2248G>C (p.Gly750Arg)
c.1150G>C (p.Gly384Arg)
n.6435G>C
c.2506G>C (p.Gly836Arg)
c.2413G>C (p.Gly805Arg)
c.2332G>C (p.Gly778Arg)
c.2308G>C (p.Gly770Arg)
c.2215G>C (p.Gly739Arg)
c.1441G>C (p.Gly481Arg)
c.1354G>C (p.Gly452Arg)
c.1267G>C (p.Gly423Arg)
c.772-1029G>C (n.772-1029G>C)
n.1074G>C
17g.46024088G=CA2262106946MAPTc.1156G= (p.Gly386=)
c.1069G= (p.Gly357=)
c.1243G= (p.Gly415=)
n.469G=
n.427G=
n.661G=
c.2419G= (p.Gly807=)
c.2128G= (p.Gly710=)
c.1063G= (p.Gly355=)
c.1192G= (p.Gly398=)
c.2194G= (p.Gly732=)
c.976G= (p.Gly326=)
c.2248G= (p.Gly750=)
c.1150G= (p.Gly384=)
n.6435G=
c.2506G= (p.Gly836=)
c.2413G= (p.Gly805=)
c.2332G= (p.Gly778=)
c.2308G= (p.Gly770=)
c.2215G= (p.Gly739=)
c.1441G= (p.Gly481=)
c.1354G= (p.Gly452=)
c.1267G= (p.Gly423=)
c.772-1029G= (n.772-1029G=)
n.1074G=
17g.46024088G>TCA399984538MAPTc.1156G>T (p.Gly386Cys)
c.1069G>T (p.Gly357Cys)
c.1243G>T (p.Gly415Cys)
n.469G>T
n.427G>T
n.661G>T
c.2419G>T (p.Gly807Cys)
c.2128G>T (p.Gly710Cys)
c.1063G>T (p.Gly355Cys)
c.1192G>T (p.Gly398Cys)
c.2194G>T (p.Gly732Cys)
c.976G>T (p.Gly326Cys)
c.2248G>T (p.Gly750Cys)
c.1150G>T (p.Gly384Cys)
n.6435G>T
c.2506G>T (p.Gly836Cys)
c.2413G>T (p.Gly805Cys)
c.2332G>T (p.Gly778Cys)
c.2308G>T (p.Gly770Cys)
c.2215G>T (p.Gly739Cys)
c.1441G>T (p.Gly481Cys)
c.1354G>T (p.Gly452Cys)
c.1267G>T (p.Gly423Cys)
c.772-1029G>T (n.772-1029G>T)
n.1074G>T
 COSMIC COSMIC COSMIC
17g.46024089G>ACA399984539MAPTc.1157G>A (p.Gly386Asp)
c.1070G>A (p.Gly357Asp)
c.1244G>A (p.Gly415Asp)
n.470G>A
n.428G>A
n.662G>A
c.2420G>A (p.Gly807Asp)
c.2129G>A (p.Gly710Asp)
c.1064G>A (p.Gly355Asp)
c.1193G>A (p.Gly398Asp)
c.2195G>A (p.Gly732Asp)
c.977G>A (p.Gly326Asp)
c.2249G>A (p.Gly750Asp)
c.1151G>A (p.Gly384Asp)
n.6436G>A
c.2507G>A (p.Gly836Asp)
c.2414G>A (p.Gly805Asp)
c.2333G>A (p.Gly778Asp)
c.2309G>A (p.Gly770Asp)
c.2216G>A (p.Gly739Asp)
c.1442G>A (p.Gly481Asp)
c.1355G>A (p.Gly452Asp)
c.1268G>A (p.Gly423Asp)
c.772-1028G>A (n.772-1028G>A)
n.1075G>A
17g.46024089G>CCA399984541MAPTc.1157G>C (p.Gly386Ala)
c.1070G>C (p.Gly357Ala)
c.1244G>C (p.Gly415Ala)
n.470G>C
n.428G>C
n.662G>C
c.2420G>C (p.Gly807Ala)
c.2129G>C (p.Gly710Ala)
c.1064G>C (p.Gly355Ala)
c.1193G>C (p.Gly398Ala)
c.2195G>C (p.Gly732Ala)
c.977G>C (p.Gly326Ala)
c.2249G>C (p.Gly750Ala)
c.1151G>C (p.Gly384Ala)
n.6436G>C
c.2507G>C (p.Gly836Ala)
c.2414G>C (p.Gly805Ala)
c.2333G>C (p.Gly778Ala)
c.2309G>C (p.Gly770Ala)
c.2216G>C (p.Gly739Ala)
c.1442G>C (p.Gly481Ala)
c.1355G>C (p.Gly452Ala)
c.1268G>C (p.Gly423Ala)
c.772-1028G>C (n.772-1028G>C)
n.1075G>C
17g.46024089G>TCA399984540MAPTc.1157G>T (p.Gly386Val)
c.1070G>T (p.Gly357Val)
c.1244G>T (p.Gly415Val)
n.470G>T
n.428G>T
n.662G>T
c.2420G>T (p.Gly807Val)
c.2129G>T (p.Gly710Val)
c.1064G>T (p.Gly355Val)
c.1193G>T (p.Gly398Val)
c.2195G>T (p.Gly732Val)
c.977G>T (p.Gly326Val)
c.2249G>T (p.Gly750Val)
c.1151G>T (p.Gly384Val)
n.6436G>T
c.2507G>T (p.Gly836Val)
c.2414G>T (p.Gly805Val)
c.2333G>T (p.Gly778Val)
c.2309G>T (p.Gly770Val)
c.2216G>T (p.Gly739Val)
c.1442G>T (p.Gly481Val)
c.1355G>T (p.Gly452Val)
c.1268G>T (p.Gly423Val)
c.772-1028G>T (n.772-1028G>T)
n.1075G>T
17g.46024090C>ACA500371496MAPTc.1158C>A (p.Gly386=)
c.1071C>A (p.Gly357=)
c.1245C>A (p.Gly415=)
n.471C>A
n.429C>A
n.663C>A
c.2421C>A (p.Gly807=)
c.2130C>A (p.Gly710=)
c.1065C>A (p.Gly355=)
c.1194C>A (p.Gly398=)
c.2196C>A (p.Gly732=)
c.978C>A (p.Gly326=)
c.2250C>A (p.Gly750=)
c.1152C>A (p.Gly384=)
n.6437C>A
c.2508C>A (p.Gly836=)
c.2415C>A (p.Gly805=)
c.2334C>A (p.Gly778=)
c.2310C>A (p.Gly770=)
c.2217C>A (p.Gly739=)
c.1443C>A (p.Gly481=)
c.1356C>A (p.Gly452=)
c.1269C>A (p.Gly423=)
c.772-1027C>A (n.772-1027C>A)
n.1076C>A
17g.46024090C=CA2262106947MAPTc.1158C= (p.Gly386=)
c.1071C= (p.Gly357=)
c.1245C= (p.Gly415=)
n.471C=
n.429C=
n.663C=
c.2421C= (p.Gly807=)
c.2130C= (p.Gly710=)
c.1065C= (p.Gly355=)
c.1194C= (p.Gly398=)
c.2196C= (p.Gly732=)
c.978C= (p.Gly326=)
c.2250C= (p.Gly750=)
c.1152C= (p.Gly384=)
n.6437C=
c.2508C= (p.Gly836=)
c.2415C= (p.Gly805=)
c.2334C= (p.Gly778=)
c.2310C= (p.Gly770=)
c.2217C= (p.Gly739=)
c.1443C= (p.Gly481=)
c.1356C= (p.Gly452=)
c.1269C= (p.Gly423=)
c.772-1027C= (n.772-1027C=)
n.1076C=
17g.46024090C>GCA500371497MAPTc.1158C>G (p.Gly386=)
c.1071C>G (p.Gly357=)
c.1245C>G (p.Gly415=)
n.471C>G
n.429C>G
n.663C>G
c.2421C>G (p.Gly807=)
c.2130C>G (p.Gly710=)
c.1065C>G (p.Gly355=)
c.1194C>G (p.Gly398=)
c.2196C>G (p.Gly732=)
c.978C>G (p.Gly326=)
c.2250C>G (p.Gly750=)
c.1152C>G (p.Gly384=)
n.6437C>G
c.2508C>G (p.Gly836=)
c.2415C>G (p.Gly805=)
c.2334C>G (p.Gly778=)
c.2310C>G (p.Gly770=)
c.2217C>G (p.Gly739=)
c.1443C>G (p.Gly481=)
c.1356C>G (p.Gly452=)
c.1269C>G (p.Gly423=)
c.772-1027C>G (n.772-1027C>G)
n.1076C>G
17g.46024090C>TCA8618269MAPTc.1158C>T (p.Gly386=)
c.1071C>T (p.Gly357=)
c.1245C>T (p.Gly415=)
n.471C>T
n.429C>T
n.663C>T
c.2421C>T (p.Gly807=)
c.2130C>T (p.Gly710=)
c.1065C>T (p.Gly355=)
c.1194C>T (p.Gly398=)
c.2196C>T (p.Gly732=)
c.978C>T (p.Gly326=)
c.2250C>T (p.Gly750=)
c.1152C>T (p.Gly384=)
n.6437C>T
c.2508C>T (p.Gly836=)
c.2415C>T (p.Gly805=)
c.2334C>T (p.Gly778=)
c.2310C>T (p.Gly770=)
c.2217C>T (p.Gly739=)
c.1443C>T (p.Gly481=)
c.1356C>T (p.Gly452=)
c.1269C>T (p.Gly423=)
c.772-1027C>T (n.772-1027C>T)
n.1076C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46024091A>CCA399984542MAPTc.1159A>C (p.Ser387Arg)
c.1072A>C (p.Ser358Arg)
c.1246A>C (p.Ser416Arg)
n.472A>C
n.430A>C
n.664A>C
c.2422A>C (p.Ser808Arg)
c.2131A>C (p.Ser711Arg)
c.1066A>C (p.Ser356Arg)
c.1195A>C (p.Ser399Arg)
c.2197A>C (p.Ser733Arg)
c.979A>C (p.Ser327Arg)
c.2251A>C (p.Ser751Arg)
c.1153A>C (p.Ser385Arg)
n.6438A>C
c.2509A>C (p.Ser837Arg)
c.2416A>C (p.Ser806Arg)
c.2335A>C (p.Ser779Arg)
c.2311A>C (p.Ser771Arg)
c.2218A>C (p.Ser740Arg)
c.1444A>C (p.Ser482Arg)
c.1357A>C (p.Ser453Arg)
c.1270A>C (p.Ser424Arg)
c.772-1026A>C (n.772-1026A>C)
n.1077A>C
17g.46024091A>GCA399984543MAPTc.1159A>G (p.Ser387Gly)
c.1072A>G (p.Ser358Gly)
c.1246A>G (p.Ser416Gly)
n.472A>G
n.430A>G
n.664A>G
c.2422A>G (p.Ser808Gly)
c.2131A>G (p.Ser711Gly)
c.1066A>G (p.Ser356Gly)
c.1195A>G (p.Ser399Gly)
c.2197A>G (p.Ser733Gly)
c.979A>G (p.Ser327Gly)
c.2251A>G (p.Ser751Gly)
c.1153A>G (p.Ser385Gly)
n.6438A>G
c.2509A>G (p.Ser837Gly)
c.2416A>G (p.Ser806Gly)
c.2335A>G (p.Ser779Gly)
c.2311A>G (p.Ser771Gly)
c.2218A>G (p.Ser740Gly)
c.1444A>G (p.Ser482Gly)
c.1357A>G (p.Ser453Gly)
c.1270A>G (p.Ser424Gly)
c.772-1026A>G (n.772-1026A>G)
n.1077A>G
17g.46024091A>TCA399984544MAPTc.1159A>T (p.Ser387Cys)
c.1072A>T (p.Ser358Cys)
c.1246A>T (p.Ser416Cys)
n.472A>T
n.430A>T
n.664A>T
c.2422A>T (p.Ser808Cys)
c.2131A>T (p.Ser711Cys)
c.1066A>T (p.Ser356Cys)
c.1195A>T (p.Ser399Cys)
c.2197A>T (p.Ser733Cys)
c.979A>T (p.Ser327Cys)
c.2251A>T (p.Ser751Cys)
c.1153A>T (p.Ser385Cys)
n.6438A>T
c.2509A>T (p.Ser837Cys)
c.2416A>T (p.Ser806Cys)
c.2335A>T (p.Ser779Cys)
c.2311A>T (p.Ser771Cys)
c.2218A>T (p.Ser740Cys)
c.1444A>T (p.Ser482Cys)
c.1357A>T (p.Ser453Cys)
c.1270A>T (p.Ser424Cys)
c.772-1026A>T (n.772-1026A>T)
n.1077A>T
17g.46024092G>ACA399984547MAPTc.1160G>A (p.Ser387Asn)
c.1073G>A (p.Ser358Asn)
c.1247G>A (p.Ser416Asn)
n.473G>A
n.431G>A
n.665G>A
c.2423G>A (p.Ser808Asn)
c.2132G>A (p.Ser711Asn)
c.1067G>A (p.Ser356Asn)
c.1196G>A (p.Ser399Asn)
c.2198G>A (p.Ser733Asn)
c.980G>A (p.Ser327Asn)
c.2252G>A (p.Ser751Asn)
c.1154G>A (p.Ser385Asn)
n.6439G>A
c.2510G>A (p.Ser837Asn)
c.2417G>A (p.Ser806Asn)
c.2336G>A (p.Ser779Asn)
c.2312G>A (p.Ser771Asn)
c.2219G>A (p.Ser740Asn)
c.1445G>A (p.Ser482Asn)
c.1358G>A (p.Ser453Asn)
c.1271G>A (p.Ser424Asn)
c.772-1025G>A (n.772-1025G>A)
n.1078G>A
 dbSNP
17g.46024092G>CCA399984545MAPTc.1160G>C (p.Ser387Thr)
c.1073G>C (p.Ser358Thr)
c.1247G>C (p.Ser416Thr)
n.473G>C
n.431G>C
n.665G>C
c.2423G>C (p.Ser808Thr)
c.2132G>C (p.Ser711Thr)
c.1067G>C (p.Ser356Thr)
c.1196G>C (p.Ser399Thr)
c.2198G>C (p.Ser733Thr)
c.980G>C (p.Ser327Thr)
c.2252G>C (p.Ser751Thr)
c.1154G>C (p.Ser385Thr)
n.6439G>C
c.2510G>C (p.Ser837Thr)
c.2417G>C (p.Ser806Thr)
c.2336G>C (p.Ser779Thr)
c.2312G>C (p.Ser771Thr)
c.2219G>C (p.Ser740Thr)
c.1445G>C (p.Ser482Thr)
c.1358G>C (p.Ser453Thr)
c.1271G>C (p.Ser424Thr)
c.772-1025G>C (n.772-1025G>C)
n.1078G>C
17g.46024092G=CA2262106948MAPTc.1160G= (p.Ser387=)
c.1073G= (p.Ser358=)
c.1247G= (p.Ser416=)
n.473G=
n.431G=
n.665G=
c.2423G= (p.Ser808=)
c.2132G= (p.Ser711=)
c.1067G= (p.Ser356=)
c.1196G= (p.Ser399=)
c.2198G= (p.Ser733=)
c.980G= (p.Ser327=)
c.2252G= (p.Ser751=)
c.1154G= (p.Ser385=)
n.6439G=
c.2510G= (p.Ser837=)
c.2417G= (p.Ser806=)
c.2336G= (p.Ser779=)
c.2312G= (p.Ser771=)
c.2219G= (p.Ser740=)
c.1445G= (p.Ser482=)
c.1358G= (p.Ser453=)
c.1271G= (p.Ser424=)
c.772-1025G= (n.772-1025G=)
n.1078G=
17g.46024092G>TCA399984546MAPTc.1160G>T (p.Ser387Ile)
c.1073G>T (p.Ser358Ile)
c.1247G>T (p.Ser416Ile)
n.473G>T
n.431G>T
n.665G>T
c.2423G>T (p.Ser808Ile)
c.2132G>T (p.Ser711Ile)
c.1067G>T (p.Ser356Ile)
c.1196G>T (p.Ser399Ile)
c.2198G>T (p.Ser733Ile)
c.980G>T (p.Ser327Ile)
c.2252G>T (p.Ser751Ile)
c.1154G>T (p.Ser385Ile)
n.6439G>T
c.2510G>T (p.Ser837Ile)
c.2417G>T (p.Ser806Ile)
c.2336G>T (p.Ser779Ile)
c.2312G>T (p.Ser771Ile)
c.2219G>T (p.Ser740Ile)
c.1445G>T (p.Ser482Ile)
c.1358G>T (p.Ser453Ile)
c.1271G>T (p.Ser424Ile)
c.772-1025G>T (n.772-1025G>T)
n.1078G>T
17g.46024093C>ACA399984548MAPTc.1161C>A (p.Ser387Arg)
c.1074C>A (p.Ser358Arg)
c.1248C>A (p.Ser416Arg)
n.474C>A
n.432C>A
n.666C>A
c.2424C>A (p.Ser808Arg)
c.2133C>A (p.Ser711Arg)
c.1068C>A (p.Ser356Arg)
c.1197C>A (p.Ser399Arg)
c.2199C>A (p.Ser733Arg)
c.981C>A (p.Ser327Arg)
c.2253C>A (p.Ser751Arg)
c.1155C>A (p.Ser385Arg)
n.6440C>A
c.2511C>A (p.Ser837Arg)
c.2418C>A (p.Ser806Arg)
c.2337C>A (p.Ser779Arg)
c.2313C>A (p.Ser771Arg)
c.2220C>A (p.Ser740Arg)
c.1446C>A (p.Ser482Arg)
c.1359C>A (p.Ser453Arg)
c.1272C>A (p.Ser424Arg)
c.772-1024C>A (n.772-1024C>A)
n.1079C>A
17g.46024093C>GCA399984549MAPTc.1161C>G (p.Ser387Arg)
c.1074C>G (p.Ser358Arg)
c.1248C>G (p.Ser416Arg)
n.474C>G
n.432C>G
n.666C>G
c.2424C>G (p.Ser808Arg)
c.2133C>G (p.Ser711Arg)
c.1068C>G (p.Ser356Arg)
c.1197C>G (p.Ser399Arg)
c.2199C>G (p.Ser733Arg)
c.981C>G (p.Ser327Arg)
c.2253C>G (p.Ser751Arg)
c.1155C>G (p.Ser385Arg)
n.6440C>G
c.2511C>G (p.Ser837Arg)
c.2418C>G (p.Ser806Arg)
c.2337C>G (p.Ser779Arg)
c.2313C>G (p.Ser771Arg)
c.2220C>G (p.Ser740Arg)
c.1446C>G (p.Ser482Arg)
c.1359C>G (p.Ser453Arg)
c.1272C>G (p.Ser424Arg)
c.772-1024C>G (n.772-1024C>G)
n.1079C>G
17g.46024093C>TCA500371498MAPTc.1161C>T (p.Ser387=)
c.1074C>T (p.Ser358=)
c.1248C>T (p.Ser416=)
n.474C>T
n.432C>T
n.666C>T
c.2424C>T (p.Ser808=)
c.2133C>T (p.Ser711=)
c.1068C>T (p.Ser356=)
c.1197C>T (p.Ser399=)
c.2199C>T (p.Ser733=)
c.981C>T (p.Ser327=)
c.2253C>T (p.Ser751=)
c.1155C>T (p.Ser385=)
n.6440C>T
c.2511C>T (p.Ser837=)
c.2418C>T (p.Ser806=)
c.2337C>T (p.Ser779=)
c.2313C>T (p.Ser771=)
c.2220C>T (p.Ser740=)
c.1446C>T (p.Ser482=)
c.1359C>T (p.Ser453=)
c.1272C>T (p.Ser424=)
c.772-1024C>T (n.772-1024C>T)
n.1079C>T
17g.46024094A>CCA399984550MAPTc.1162A>C (p.Ile388Leu)
c.1075A>C (p.Ile359Leu)
c.1249A>C (p.Ile417Leu)
n.475A>C
n.433A>C
n.667A>C
c.2425A>C (p.Ile809Leu)
c.2134A>C (p.Ile712Leu)
c.1069A>C (p.Ile357Leu)
c.1198A>C (p.Ile400Leu)
c.2200A>C (p.Ile734Leu)
c.982A>C (p.Ile328Leu)
c.2254A>C (p.Ile752Leu)
c.1156A>C (p.Ile386Leu)
n.6441A>C
c.2512A>C (p.Ile838Leu)
c.2419A>C (p.Ile807Leu)
c.2338A>C (p.Ile780Leu)
c.2314A>C (p.Ile772Leu)
c.2221A>C (p.Ile741Leu)
c.1447A>C (p.Ile483Leu)
c.1360A>C (p.Ile454Leu)
c.1273A>C (p.Ile425Leu)
c.772-1023A>C (n.772-1023A>C)
n.1080A>C
17g.46024094A>GCA399984551MAPTc.1162A>G (p.Ile388Val)
c.1075A>G (p.Ile359Val)
c.1249A>G (p.Ile417Val)
n.475A>G
n.433A>G
n.667A>G
c.2425A>G (p.Ile809Val)
c.2134A>G (p.Ile712Val)
c.1069A>G (p.Ile357Val)
c.1198A>G (p.Ile400Val)
c.2200A>G (p.Ile734Val)
c.982A>G (p.Ile328Val)
c.2254A>G (p.Ile752Val)
c.1156A>G (p.Ile386Val)
n.6441A>G
c.2512A>G (p.Ile838Val)
c.2419A>G (p.Ile807Val)
c.2338A>G (p.Ile780Val)
c.2314A>G (p.Ile772Val)
c.2221A>G (p.Ile741Val)
c.1447A>G (p.Ile483Val)
c.1360A>G (p.Ile454Val)
c.1273A>G (p.Ile425Val)
c.772-1023A>G (n.772-1023A>G)
n.1080A>G
17g.46024094A>TCA399984552MAPTc.1162A>T (p.Ile388Phe)
c.1075A>T (p.Ile359Phe)
c.1249A>T (p.Ile417Phe)
n.475A>T
n.433A>T
n.667A>T
c.2425A>T (p.Ile809Phe)
c.2134A>T (p.Ile712Phe)
c.1069A>T (p.Ile357Phe)
c.1198A>T (p.Ile400Phe)
c.2200A>T (p.Ile734Phe)
c.982A>T (p.Ile328Phe)
c.2254A>T (p.Ile752Phe)
c.1156A>T (p.Ile386Phe)
n.6441A>T
c.2512A>T (p.Ile838Phe)
c.2419A>T (p.Ile807Phe)
c.2338A>T (p.Ile780Phe)
c.2314A>T (p.Ile772Phe)
c.2221A>T (p.Ile741Phe)
c.1447A>T (p.Ile483Phe)
c.1360A>T (p.Ile454Phe)
c.1273A>T (p.Ile425Phe)
c.772-1023A>T (n.772-1023A>T)
n.1080A>T
17g.46024095T>ACA399984553MAPTc.1163T>A (p.Ile388Asn)
c.1076T>A (p.Ile359Asn)
c.1250T>A (p.Ile417Asn)
n.476T>A
n.434T>A
n.668T>A
c.2426T>A (p.Ile809Asn)
c.2135T>A (p.Ile712Asn)
c.1070T>A (p.Ile357Asn)
c.1199T>A (p.Ile400Asn)
c.2201T>A (p.Ile734Asn)
c.983T>A (p.Ile328Asn)
c.2255T>A (p.Ile752Asn)
c.1157T>A (p.Ile386Asn)
n.6442T>A
c.2513T>A (p.Ile838Asn)
c.2420T>A (p.Ile807Asn)
c.2339T>A (p.Ile780Asn)
c.2315T>A (p.Ile772Asn)
c.2222T>A (p.Ile741Asn)
c.1448T>A (p.Ile483Asn)
c.1361T>A (p.Ile454Asn)
c.1274T>A (p.Ile425Asn)
c.772-1022T>A (n.772-1022T>A)
n.1081T>A
17g.46024095T>CCA399984554MAPTc.1163T>C (p.Ile388Thr)
c.1076T>C (p.Ile359Thr)
c.1250T>C (p.Ile417Thr)
n.476T>C
n.434T>C
n.668T>C
c.2426T>C (p.Ile809Thr)
c.2135T>C (p.Ile712Thr)
c.1070T>C (p.Ile357Thr)
c.1199T>C (p.Ile400Thr)
c.2201T>C (p.Ile734Thr)
c.983T>C (p.Ile328Thr)
c.2255T>C (p.Ile752Thr)
c.1157T>C (p.Ile386Thr)
n.6442T>C
c.2513T>C (p.Ile838Thr)
c.2420T>C (p.Ile807Thr)
c.2339T>C (p.Ile780Thr)
c.2315T>C (p.Ile772Thr)
c.2222T>C (p.Ile741Thr)
c.1448T>C (p.Ile483Thr)
c.1361T>C (p.Ile454Thr)
c.1274T>C (p.Ile425Thr)
c.772-1022T>C (n.772-1022T>C)
n.1081T>C
17g.46024095T>GCA399984555MAPTc.1163T>G (p.Ile388Ser)
c.1076T>G (p.Ile359Ser)
c.1250T>G (p.Ile417Ser)
n.476T>G
n.434T>G
n.668T>G
c.2426T>G (p.Ile809Ser)
c.2135T>G (p.Ile712Ser)
c.1070T>G (p.Ile357Ser)
c.1199T>G (p.Ile400Ser)
c.2201T>G (p.Ile734Ser)
c.983T>G (p.Ile328Ser)
c.2255T>G (p.Ile752Ser)
c.1157T>G (p.Ile386Ser)
n.6442T>G
c.2513T>G (p.Ile838Ser)
c.2420T>G (p.Ile807Ser)
c.2339T>G (p.Ile780Ser)
c.2315T>G (p.Ile772Ser)
c.2222T>G (p.Ile741Ser)
c.1448T>G (p.Ile483Ser)
c.1361T>G (p.Ile454Ser)
c.1274T>G (p.Ile425Ser)
c.772-1022T>G (n.772-1022T>G)
n.1081T>G
17g.46024096C>ACA500371500MAPTc.1164C>A (p.Ile388=)
c.1077C>A (p.Ile359=)
c.1251C>A (p.Ile417=)
n.477C>A
n.435C>A
n.669C>A
c.2427C>A (p.Ile809=)
c.2136C>A (p.Ile712=)
c.1071C>A (p.Ile357=)
c.1200C>A (p.Ile400=)
c.2202C>A (p.Ile734=)
c.984C>A (p.Ile328=)
c.2256C>A (p.Ile752=)
c.1158C>A (p.Ile386=)
n.6443C>A
c.2514C>A (p.Ile838=)
c.2421C>A (p.Ile807=)
c.2340C>A (p.Ile780=)
c.2316C>A (p.Ile772=)
c.2223C>A (p.Ile741=)
c.1449C>A (p.Ile483=)
c.1362C>A (p.Ile454=)
c.1275C>A (p.Ile425=)
c.772-1021C>A (n.772-1021C>A)
n.1082C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46024096C=CA2262106949MAPTc.1164C= (p.Ile388=)
c.1077C= (p.Ile359=)
c.1251C= (p.Ile417=)
n.477C=
n.435C=
n.669C=
c.2427C= (p.Ile809=)
c.2136C= (p.Ile712=)
c.1071C= (p.Ile357=)
c.1200C= (p.Ile400=)
c.2202C= (p.Ile734=)
c.984C= (p.Ile328=)
c.2256C= (p.Ile752=)
c.1158C= (p.Ile386=)
n.6443C=
c.2514C= (p.Ile838=)
c.2421C= (p.Ile807=)
c.2340C= (p.Ile780=)
c.2316C= (p.Ile772=)
c.2223C= (p.Ile741=)
c.1449C= (p.Ile483=)
c.1362C= (p.Ile454=)
c.1275C= (p.Ile425=)
c.772-1021C= (n.772-1021C=)
n.1082C=
17g.46024096C>GCA399984556MAPTc.1164C>G (p.Ile388Met)
c.1077C>G (p.Ile359Met)
c.1251C>G (p.Ile417Met)
n.477C>G
n.435C>G
n.669C>G
c.2427C>G (p.Ile809Met)
c.2136C>G (p.Ile712Met)
c.1071C>G (p.Ile357Met)
c.1200C>G (p.Ile400Met)
c.2202C>G (p.Ile734Met)
c.984C>G (p.Ile328Met)
c.2256C>G (p.Ile752Met)
c.1158C>G (p.Ile386Met)
n.6443C>G
c.2514C>G (p.Ile838Met)
c.2421C>G (p.Ile807Met)
c.2340C>G (p.Ile780Met)
c.2316C>G (p.Ile772Met)
c.2223C>G (p.Ile741Met)
c.1449C>G (p.Ile483Met)
c.1362C>G (p.Ile454Met)
c.1275C>G (p.Ile425Met)
c.772-1021C>G (n.772-1021C>G)
n.1082C>G
17g.46024096C>TCA500371499MAPTc.1164C>T (p.Ile388=)
c.1077C>T (p.Ile359=)
c.1251C>T (p.Ile417=)
n.477C>T
n.435C>T
n.669C>T
c.2427C>T (p.Ile809=)
c.2136C>T (p.Ile712=)
c.1071C>T (p.Ile357=)
c.1200C>T (p.Ile400=)
c.2202C>T (p.Ile734=)
c.984C>T (p.Ile328=)
c.2256C>T (p.Ile752=)
c.1158C>T (p.Ile386=)
n.6443C>T
c.2514C>T (p.Ile838=)
c.2421C>T (p.Ile807=)
c.2340C>T (p.Ile780=)
c.2316C>T (p.Ile772=)
c.2223C>T (p.Ile741=)
c.1449C>T (p.Ile483=)
c.1362C>T (p.Ile454=)
c.1275C>T (p.Ile425=)
c.772-1021C>T (n.772-1021C>T)
n.1082C>T
 dbSNP gnomAD v2 gnomAD v4
17g.46024097G>ACA8618270MAPTc.1165G>A (p.Asp389Asn)
c.1078G>A (p.Asp360Asn)
c.1252G>A (p.Asp418Asn)
n.478G>A
n.436G>A
n.670G>A
c.2428G>A (p.Asp810Asn)
c.2137G>A (p.Asp713Asn)
c.1072G>A (p.Asp358Asn)
c.1201G>A (p.Asp401Asn)
c.2203G>A (p.Asp735Asn)
c.985G>A (p.Asp329Asn)
c.2257G>A (p.Asp753Asn)
c.1159G>A (p.Asp387Asn)
n.6444G>A
c.2515G>A (p.Asp839Asn)
c.2422G>A (p.Asp808Asn)
c.2341G>A (p.Asp781Asn)
c.2317G>A (p.Asp773Asn)
c.2224G>A (p.Asp742Asn)
c.1450G>A (p.Asp484Asn)
c.1363G>A (p.Asp455Asn)
c.1276G>A (p.Asp426Asn)
c.772-1020G>A (n.772-1020G>A)
n.1083G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.46024097G>CCA399984557MAPTc.1165G>C (p.Asp389His)
c.1078G>C (p.Asp360His)
c.1252G>C (p.Asp418His)
n.478G>C
n.436G>C
n.670G>C
c.2428G>C (p.Asp810His)
c.2137G>C (p.Asp713His)
c.1072G>C (p.Asp358His)
c.1201G>C (p.Asp401His)
c.2203G>C (p.Asp735His)
c.985G>C (p.Asp329His)
c.2257G>C (p.Asp753His)
c.1159G>C (p.Asp387His)
n.6444G>C
c.2515G>C (p.Asp839His)
c.2422G>C (p.Asp808His)
c.2341G>C (p.Asp781His)
c.2317G>C (p.Asp773His)
c.2224G>C (p.Asp742His)
c.1450G>C (p.Asp484His)
c.1363G>C (p.Asp455His)
c.1276G>C (p.Asp426His)
c.772-1020G>C (n.772-1020G>C)
n.1083G>C
17g.46024097G=CA2262106950MAPTc.1165G= (p.Asp389=)
c.1078G= (p.Asp360=)
c.1252G= (p.Asp418=)
n.478G=
n.436G=
n.670G=
c.2428G= (p.Asp810=)
c.2137G= (p.Asp713=)
c.1072G= (p.Asp358=)
c.1201G= (p.Asp401=)
c.2203G= (p.Asp735=)
c.985G= (p.Asp329=)
c.2257G= (p.Asp753=)
c.1159G= (p.Asp387=)
n.6444G=
c.2515G= (p.Asp839=)
c.2422G= (p.Asp808=)
c.2341G= (p.Asp781=)
c.2317G= (p.Asp773=)
c.2224G= (p.Asp742=)
c.1450G= (p.Asp484=)
c.1363G= (p.Asp455=)
c.1276G= (p.Asp426=)
c.772-1020G= (n.772-1020G=)
n.1083G=
17g.46024097G>TCA399984558MAPTc.1165G>T (p.Asp389Tyr)
c.1078G>T (p.Asp360Tyr)
c.1252G>T (p.Asp418Tyr)
n.478G>T
n.436G>T
n.670G>T
c.2428G>T (p.Asp810Tyr)
c.2137G>T (p.Asp713Tyr)
c.1072G>T (p.Asp358Tyr)
c.1201G>T (p.Asp401Tyr)
c.2203G>T (p.Asp735Tyr)
c.985G>T (p.Asp329Tyr)
c.2257G>T (p.Asp753Tyr)
c.1159G>T (p.Asp387Tyr)
n.6444G>T
c.2515G>T (p.Asp839Tyr)
c.2422G>T (p.Asp808Tyr)
c.2341G>T (p.Asp781Tyr)
c.2317G>T (p.Asp773Tyr)
c.2224G>T (p.Asp742Tyr)
c.1450G>T (p.Asp484Tyr)
c.1363G>T (p.Asp455Tyr)
c.1276G>T (p.Asp426Tyr)
c.772-1020G>T (n.772-1020G>T)
n.1083G>T
17g.46024098A>CCA399984559MAPTc.1166A>C (p.Asp389Ala)
c.1079A>C (p.Asp360Ala)
c.1253A>C (p.Asp418Ala)
n.479A>C
n.437A>C
n.671A>C
c.2429A>C (p.Asp810Ala)
c.2138A>C (p.Asp713Ala)
c.1073A>C (p.Asp358Ala)
c.1202A>C (p.Asp401Ala)
c.2204A>C (p.Asp735Ala)
c.986A>C (p.Asp329Ala)
c.2258A>C (p.Asp753Ala)
c.1160A>C (p.Asp387Ala)
n.6445A>C
c.2516A>C (p.Asp839Ala)
c.2423A>C (p.Asp808Ala)
c.2342A>C (p.Asp781Ala)
c.2318A>C (p.Asp773Ala)
c.2225A>C (p.Asp742Ala)
c.1451A>C (p.Asp484Ala)
c.1364A>C (p.Asp455Ala)
c.1277A>C (p.Asp426Ala)
c.772-1019A>C (n.772-1019A>C)
n.1084A>C
17g.46024098A>GCA399984561MAPTc.1166A>G (p.Asp389Gly)
c.1079A>G (p.Asp360Gly)
c.1253A>G (p.Asp418Gly)
n.479A>G
n.437A>G
n.671A>G
c.2429A>G (p.Asp810Gly)
c.2138A>G (p.Asp713Gly)
c.1073A>G (p.Asp358Gly)
c.1202A>G (p.Asp401Gly)
c.2204A>G (p.Asp735Gly)
c.986A>G (p.Asp329Gly)
c.2258A>G (p.Asp753Gly)
c.1160A>G (p.Asp387Gly)
n.6445A>G
c.2516A>G (p.Asp839Gly)
c.2423A>G (p.Asp808Gly)
c.2342A>G (p.Asp781Gly)
c.2318A>G (p.Asp773Gly)
c.2225A>G (p.Asp742Gly)
c.1451A>G (p.Asp484Gly)
c.1364A>G (p.Asp455Gly)
c.1277A>G (p.Asp426Gly)
c.772-1019A>G (n.772-1019A>G)
n.1084A>G
17g.46024098A>TCA399984560MAPTc.1166A>T (p.Asp389Val)
c.1079A>T (p.Asp360Val)
c.1253A>T (p.Asp418Val)
n.479A>T
n.437A>T
n.671A>T
c.2429A>T (p.Asp810Val)
c.2138A>T (p.Asp713Val)
c.1073A>T (p.Asp358Val)
c.1202A>T (p.Asp401Val)
c.2204A>T (p.Asp735Val)
c.986A>T (p.Asp329Val)
c.2258A>T (p.Asp753Val)
c.1160A>T (p.Asp387Val)
n.6445A>T
c.2516A>T (p.Asp839Val)
c.2423A>T (p.Asp808Val)
c.2342A>T (p.Asp781Val)
c.2318A>T (p.Asp773Val)
c.2225A>T (p.Asp742Val)
c.1451A>T (p.Asp484Val)
c.1364A>T (p.Asp455Val)
c.1277A>T (p.Asp426Val)
c.772-1019A>T (n.772-1019A>T)
n.1084A>T
17g.46024099C>ACA399984562MAPTc.1167C>A (p.Asp389Glu)
c.1080C>A (p.Asp360Glu)
c.1254C>A (p.Asp418Glu)
n.480C>A
n.438C>A
n.672C>A
c.2430C>A (p.Asp810Glu)
c.2139C>A (p.Asp713Glu)
c.1074C>A (p.Asp358Glu)
c.1203C>A (p.Asp401Glu)
c.2205C>A (p.Asp735Glu)
c.987C>A (p.Asp329Glu)
c.2259C>A (p.Asp753Glu)
c.1161C>A (p.Asp387Glu)
n.6446C>A
c.2517C>A (p.Asp839Glu)
c.2424C>A (p.Asp808Glu)
c.2343C>A (p.Asp781Glu)
c.2319C>A (p.Asp773Glu)
c.2226C>A (p.Asp742Glu)
c.1452C>A (p.Asp484Glu)
c.1365C>A (p.Asp455Glu)
c.1278C>A (p.Asp426Glu)
c.772-1018C>A (n.772-1018C>A)
n.1085C>A
17g.46024099C>GCA399984563MAPTc.1167C>G (p.Asp389Glu)
c.1080C>G (p.Asp360Glu)
c.1254C>G (p.Asp418Glu)
n.480C>G
n.438C>G
n.672C>G
c.2430C>G (p.Asp810Glu)
c.2139C>G (p.Asp713Glu)
c.1074C>G (p.Asp358Glu)
c.1203C>G (p.Asp401Glu)
c.2205C>G (p.Asp735Glu)
c.987C>G (p.Asp329Glu)
c.2259C>G (p.Asp753Glu)
c.1161C>G (p.Asp387Glu)
n.6446C>G
c.2517C>G (p.Asp839Glu)
c.2424C>G (p.Asp808Glu)
c.2343C>G (p.Asp781Glu)
c.2319C>G (p.Asp773Glu)
c.2226C>G (p.Asp742Glu)
c.1452C>G (p.Asp484Glu)
c.1365C>G (p.Asp455Glu)
c.1278C>G (p.Asp426Glu)
c.772-1018C>G (n.772-1018C>G)
n.1085C>G
17g.46024099C>TCA500371501MAPTc.1167C>T (p.Asp389=)
c.1080C>T (p.Asp360=)
c.1254C>T (p.Asp418=)
n.480C>T
n.438C>T
n.672C>T
c.2430C>T (p.Asp810=)
c.2139C>T (p.Asp713=)
c.1074C>T (p.Asp358=)
c.1203C>T (p.Asp401=)
c.2205C>T (p.Asp735=)
c.987C>T (p.Asp329=)
c.2259C>T (p.Asp753=)
c.1161C>T (p.Asp387=)
n.6446C>T
c.2517C>T (p.Asp839=)
c.2424C>T (p.Asp808=)
c.2343C>T (p.Asp781=)
c.2319C>T (p.Asp773=)
c.2226C>T (p.Asp742=)
c.1452C>T (p.Asp484=)
c.1365C>T (p.Asp455=)
c.1278C>T (p.Asp426=)
c.772-1018C>T (n.772-1018C>T)
n.1085C>T
17g.46024100A=CA2262106951MAPTc.1168A= (p.Met390=)
c.1081A= (p.Met361=)
c.1255A= (p.Met419=)
n.481A=
n.439A=
n.673A=
c.2431A= (p.Met811=)
c.2140A= (p.Met714=)
c.1075A= (p.Met359=)
c.1204A= (p.Met402=)
c.2206A= (p.Met736=)
c.988A= (p.Met330=)
c.2260A= (p.Met754=)
c.1162A= (p.Met388=)
n.6447A=
c.2518A= (p.Met840=)
c.2425A= (p.Met809=)
c.2344A= (p.Met782=)
c.2320A= (p.Met774=)
c.2227A= (p.Met743=)
c.1453A= (p.Met485=)
c.1366A= (p.Met456=)
c.1279A= (p.Met427=)
c.772-1017A= (n.772-1017A=)
n.1086A=
17g.46024100A>CCA399984564MAPTc.1168A>C (p.Met390Leu)
c.1081A>C (p.Met361Leu)
c.1255A>C (p.Met419Leu)
n.481A>C
n.439A>C
n.673A>C
c.2431A>C (p.Met811Leu)
c.2140A>C (p.Met714Leu)
c.1075A>C (p.Met359Leu)
c.1204A>C (p.Met402Leu)
c.2206A>C (p.Met736Leu)
c.988A>C (p.Met330Leu)
c.2260A>C (p.Met754Leu)
c.1162A>C (p.Met388Leu)
n.6447A>C
c.2518A>C (p.Met840Leu)
c.2425A>C (p.Met809Leu)
c.2344A>C (p.Met782Leu)
c.2320A>C (p.Met774Leu)
c.2227A>C (p.Met743Leu)
c.1453A>C (p.Met485Leu)
c.1366A>C (p.Met456Leu)
c.1279A>C (p.Met427Leu)
c.772-1017A>C (n.772-1017A>C)
n.1086A>C
 gnomAD v4
17g.46024100A>GCA8618271MAPTc.1168A>G (p.Met390Val)
c.1081A>G (p.Met361Val)
c.1255A>G (p.Met419Val)
n.481A>G
n.439A>G
n.673A>G
c.2431A>G (p.Met811Val)
c.2140A>G (p.Met714Val)
c.1075A>G (p.Met359Val)
c.1204A>G (p.Met402Val)
c.2206A>G (p.Met736Val)
c.988A>G (p.Met330Val)
c.2260A>G (p.Met754Val)
c.1162A>G (p.Met388Val)
n.6447A>G
c.2518A>G (p.Met840Val)
c.2425A>G (p.Met809Val)
c.2344A>G (p.Met782Val)
c.2320A>G (p.Met774Val)
c.2227A>G (p.Met743Val)
c.1453A>G (p.Met485Val)
c.1366A>G (p.Met456Val)
c.1279A>G (p.Met427Val)
c.772-1017A>G (n.772-1017A>G)
n.1086A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46024100A>TCA399984565MAPTc.1168A>T (p.Met390Leu)
c.1081A>T (p.Met361Leu)
c.1255A>T (p.Met419Leu)
n.481A>T
n.439A>T
n.673A>T
c.2431A>T (p.Met811Leu)
c.2140A>T (p.Met714Leu)
c.1075A>T (p.Met359Leu)
c.1204A>T (p.Met402Leu)
c.2206A>T (p.Met736Leu)
c.988A>T (p.Met330Leu)
c.2260A>T (p.Met754Leu)
c.1162A>T (p.Met388Leu)
n.6447A>T
c.2518A>T (p.Met840Leu)
c.2425A>T (p.Met809Leu)
c.2344A>T (p.Met782Leu)
c.2320A>T (p.Met774Leu)
c.2227A>T (p.Met743Leu)
c.1453A>T (p.Met485Leu)
c.1366A>T (p.Met456Leu)
c.1279A>T (p.Met427Leu)
c.772-1017A>T (n.772-1017A>T)
n.1086A>T
17g.46024101T>ACA399984566MAPTc.1169T>A (p.Met390Lys)
c.1082T>A (p.Met361Lys)
c.1256T>A (p.Met419Lys)
n.482T>A
n.440T>A
n.674T>A
c.2432T>A (p.Met811Lys)
c.2141T>A (p.Met714Lys)
c.1076T>A (p.Met359Lys)
c.1205T>A (p.Met402Lys)
c.2207T>A (p.Met736Lys)
c.989T>A (p.Met330Lys)
c.2261T>A (p.Met754Lys)
c.1163T>A (p.Met388Lys)
n.6448T>A
c.2519T>A (p.Met840Lys)
c.2426T>A (p.Met809Lys)
c.2345T>A (p.Met782Lys)
c.2321T>A (p.Met774Lys)
c.2228T>A (p.Met743Lys)
c.1454T>A (p.Met485Lys)
c.1367T>A (p.Met456Lys)
c.1280T>A (p.Met427Lys)
c.772-1016T>A (n.772-1016T>A)
n.1087T>A
 dbSNP gnomAD v3 gnomAD v4
17g.46024101T>CCA8618272MAPTc.1169T>C (p.Met390Thr)
c.1082T>C (p.Met361Thr)
c.1256T>C (p.Met419Thr)
n.482T>C
n.440T>C
n.674T>C
c.2432T>C (p.Met811Thr)
c.2141T>C (p.Met714Thr)
c.1076T>C (p.Met359Thr)
c.1205T>C (p.Met402Thr)
c.2207T>C (p.Met736Thr)
c.989T>C (p.Met330Thr)
c.2261T>C (p.Met754Thr)
c.1163T>C (p.Met388Thr)
n.6448T>C
c.2519T>C (p.Met840Thr)
c.2426T>C (p.Met809Thr)
c.2345T>C (p.Met782Thr)
c.2321T>C (p.Met774Thr)
c.2228T>C (p.Met743Thr)
c.1454T>C (p.Met485Thr)
c.1367T>C (p.Met456Thr)
c.1280T>C (p.Met427Thr)
c.772-1016T>C (n.772-1016T>C)
n.1087T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46024101T>GCA399984567MAPTc.1169T>G (p.Met390Arg)
c.1082T>G (p.Met361Arg)
c.1256T>G (p.Met419Arg)
n.482T>G
n.440T>G
n.674T>G
c.2432T>G (p.Met811Arg)
c.2141T>G (p.Met714Arg)
c.1076T>G (p.Met359Arg)
c.1205T>G (p.Met402Arg)
c.2207T>G (p.Met736Arg)
c.989T>G (p.Met330Arg)
c.2261T>G (p.Met754Arg)
c.1163T>G (p.Met388Arg)
n.6448T>G
c.2519T>G (p.Met840Arg)
c.2426T>G (p.Met809Arg)
c.2345T>G (p.Met782Arg)
c.2321T>G (p.Met774Arg)
c.2228T>G (p.Met743Arg)
c.1454T>G (p.Met485Arg)
c.1367T>G (p.Met456Arg)
c.1280T>G (p.Met427Arg)
c.772-1016T>G (n.772-1016T>G)
n.1087T>G
17g.46024101T=CA2262106952MAPTc.1169T= (p.Met390=)
c.1082T= (p.Met361=)
c.1256T= (p.Met419=)
n.482T=
n.440T=
n.674T=
c.2432T= (p.Met811=)
c.2141T= (p.Met714=)
c.1076T= (p.Met359=)
c.1205T= (p.Met402=)
c.2207T= (p.Met736=)
c.989T= (p.Met330=)
c.2261T= (p.Met754=)
c.1163T= (p.Met388=)
n.6448T=
c.2519T= (p.Met840=)
c.2426T= (p.Met809=)
c.2345T= (p.Met782=)
c.2321T= (p.Met774=)
c.2228T= (p.Met743=)
c.1454T= (p.Met485=)
c.1367T= (p.Met456=)
c.1280T= (p.Met427=)
c.772-1016T= (n.772-1016T=)
n.1087T=
17g.46024102G>ACA399984568MAPTc.1170G>A (p.Met390Ile)
c.1083G>A (p.Met361Ile)
c.1257G>A (p.Met419Ile)
n.483G>A
n.441G>A
n.675G>A
c.2433G>A (p.Met811Ile)
c.2142G>A (p.Met714Ile)
c.1077G>A (p.Met359Ile)
c.1206G>A (p.Met402Ile)
c.2208G>A (p.Met736Ile)
c.990G>A (p.Met330Ile)
c.2262G>A (p.Met754Ile)
c.1164G>A (p.Met388Ile)
n.6449G>A
c.2520G>A (p.Met840Ile)
c.2427G>A (p.Met809Ile)
c.2346G>A (p.Met782Ile)
c.2322G>A (p.Met774Ile)
c.2229G>A (p.Met743Ile)
c.1455G>A (p.Met485Ile)
c.1368G>A (p.Met456Ile)
c.1281G>A (p.Met427Ile)
c.772-1015G>A (n.772-1015G>A)
n.1088G>A
17g.46024102G>CCA399984569MAPTc.1170G>C (p.Met390Ile)
c.1083G>C (p.Met361Ile)
c.1257G>C (p.Met419Ile)
n.483G>C
n.441G>C
n.675G>C
c.2433G>C (p.Met811Ile)
c.2142G>C (p.Met714Ile)
c.1077G>C (p.Met359Ile)
c.1206G>C (p.Met402Ile)
c.2208G>C (p.Met736Ile)
c.990G>C (p.Met330Ile)
c.2262G>C (p.Met754Ile)
c.1164G>C (p.Met388Ile)
n.6449G>C
c.2520G>C (p.Met840Ile)
c.2427G>C (p.Met809Ile)
c.2346G>C (p.Met782Ile)
c.2322G>C (p.Met774Ile)
c.2229G>C (p.Met743Ile)
c.1455G>C (p.Met485Ile)
c.1368G>C (p.Met456Ile)
c.1281G>C (p.Met427Ile)
c.772-1015G>C (n.772-1015G>C)
n.1088G>C
17g.46024102G>TCA399984570MAPTc.1170G>T (p.Met390Ile)
c.1083G>T (p.Met361Ile)
c.1257G>T (p.Met419Ile)
n.483G>T
n.441G>T
n.675G>T
c.2433G>T (p.Met811Ile)
c.2142G>T (p.Met714Ile)
c.1077G>T (p.Met359Ile)
c.1206G>T (p.Met402Ile)
c.2208G>T (p.Met736Ile)
c.990G>T (p.Met330Ile)
c.2262G>T (p.Met754Ile)
c.1164G>T (p.Met388Ile)
n.6449G>T
c.2520G>T (p.Met840Ile)
c.2427G>T (p.Met809Ile)
c.2346G>T (p.Met782Ile)
c.2322G>T (p.Met774Ile)
c.2229G>T (p.Met743Ile)
c.1455G>T (p.Met485Ile)
c.1368G>T (p.Met456Ile)
c.1281G>T (p.Met427Ile)
c.772-1015G>T (n.772-1015G>T)
n.1088G>T
17g.46024103G>ACA399984573MAPTc.1171G>A (p.Val391Ile)
c.1084G>A (p.Val362Ile)
c.1258G>A (p.Val420Ile)
n.484G>A
n.442G>A
n.676G>A
c.2434G>A (p.Val812Ile)
c.2143G>A (p.Val715Ile)
c.1078G>A (p.Val360Ile)
c.1207G>A (p.Val403Ile)
c.2209G>A (p.Val737Ile)
c.991G>A (p.Val331Ile)
c.2263G>A (p.Val755Ile)
c.1165G>A (p.Val389Ile)
n.6450G>A
c.2521G>A (p.Val841Ile)
c.2428G>A (p.Val810Ile)
c.2347G>A (p.Val783Ile)
c.2323G>A (p.Val775Ile)
c.2230G>A (p.Val744Ile)
c.1456G>A (p.Val486Ile)
c.1369G>A (p.Val457Ile)
c.1282G>A (p.Val428Ile)
c.772-1014G>A (n.772-1014G>A)
n.1089G>A
 dbSNP
17g.46024103G>CCA399984572MAPTc.1171G>C (p.Val391Leu)
c.1084G>C (p.Val362Leu)
c.1258G>C (p.Val420Leu)
n.484G>C
n.442G>C
n.676G>C
c.2434G>C (p.Val812Leu)
c.2143G>C (p.Val715Leu)
c.1078G>C (p.Val360Leu)
c.1207G>C (p.Val403Leu)
c.2209G>C (p.Val737Leu)
c.991G>C (p.Val331Leu)
c.2263G>C (p.Val755Leu)
c.1165G>C (p.Val389Leu)
n.6450G>C
c.2521G>C (p.Val841Leu)
c.2428G>C (p.Val810Leu)
c.2347G>C (p.Val783Leu)
c.2323G>C (p.Val775Leu)
c.2230G>C (p.Val744Leu)
c.1456G>C (p.Val486Leu)
c.1369G>C (p.Val457Leu)
c.1282G>C (p.Val428Leu)
c.772-1014G>C (n.772-1014G>C)
n.1089G>C
17g.46024103G=CA2262106953MAPTc.1171G= (p.Val391=)
c.1084G= (p.Val362=)
c.1258G= (p.Val420=)
n.484G=
n.442G=
n.676G=
c.2434G= (p.Val812=)
c.2143G= (p.Val715=)
c.1078G= (p.Val360=)
c.1207G= (p.Val403=)
c.2209G= (p.Val737=)
c.991G= (p.Val331=)
c.2263G= (p.Val755=)
c.1165G= (p.Val389=)
n.6450G=
c.2521G= (p.Val841=)
c.2428G= (p.Val810=)
c.2347G= (p.Val783=)
c.2323G= (p.Val775=)
c.2230G= (p.Val744=)
c.1456G= (p.Val486=)
c.1369G= (p.Val457=)
c.1282G= (p.Val428=)
c.772-1014G= (n.772-1014G=)
n.1089G=
17g.46024103G>TCA399984571MAPTc.1171G>T (p.Val391Leu)
c.1084G>T (p.Val362Leu)
c.1258G>T (p.Val420Leu)
n.484G>T
n.442G>T
n.676G>T
c.2434G>T (p.Val812Leu)
c.2143G>T (p.Val715Leu)
c.1078G>T (p.Val360Leu)
c.1207G>T (p.Val403Leu)
c.2209G>T (p.Val737Leu)
c.991G>T (p.Val331Leu)
c.2263G>T (p.Val755Leu)
c.1165G>T (p.Val389Leu)
n.6450G>T
c.2521G>T (p.Val841Leu)
c.2428G>T (p.Val810Leu)
c.2347G>T (p.Val783Leu)
c.2323G>T (p.Val775Leu)
c.2230G>T (p.Val744Leu)
c.1456G>T (p.Val486Leu)
c.1369G>T (p.Val457Leu)
c.1282G>T (p.Val428Leu)
c.772-1014G>T (n.772-1014G>T)
n.1089G>T
17g.46024104T>ACA399984574MAPTc.1172T>A (p.Val391Glu)
c.1085T>A (p.Val362Glu)
c.1259T>A (p.Val420Glu)
n.485T>A
n.443T>A
n.677T>A
c.2435T>A (p.Val812Glu)
c.2144T>A (p.Val715Glu)
c.1079T>A (p.Val360Glu)
c.1208T>A (p.Val403Glu)
c.2210T>A (p.Val737Glu)
c.992T>A (p.Val331Glu)
c.2264T>A (p.Val755Glu)
c.1166T>A (p.Val389Glu)
n.6451T>A
c.2522T>A (p.Val841Glu)
c.2429T>A (p.Val810Glu)
c.2348T>A (p.Val783Glu)
c.2324T>A (p.Val775Glu)
c.2231T>A (p.Val744Glu)
c.1457T>A (p.Val486Glu)
c.1370T>A (p.Val457Glu)
c.1283T>A (p.Val428Glu)
c.772-1013T>A (n.772-1013T>A)
n.1090T>A
17g.46024104T>CCA399984575MAPTc.1172T>C (p.Val391Ala)
c.1085T>C (p.Val362Ala)
c.1259T>C (p.Val420Ala)
n.485T>C
n.443T>C
n.677T>C
c.2435T>C (p.Val812Ala)
c.2144T>C (p.Val715Ala)
c.1079T>C (p.Val360Ala)
c.1208T>C (p.Val403Ala)
c.2210T>C (p.Val737Ala)
c.992T>C (p.Val331Ala)
c.2264T>C (p.Val755Ala)
c.1166T>C (p.Val389Ala)
n.6451T>C
c.2522T>C (p.Val841Ala)
c.2429T>C (p.Val810Ala)
c.2348T>C (p.Val783Ala)
c.2324T>C (p.Val775Ala)
c.2231T>C (p.Val744Ala)
c.1457T>C (p.Val486Ala)
c.1370T>C (p.Val457Ala)
c.1283T>C (p.Val428Ala)
c.772-1013T>C (n.772-1013T>C)
n.1090T>C
17g.46024104T>GCA399984576MAPTc.1172T>G (p.Val391Gly)
c.1085T>G (p.Val362Gly)
c.1259T>G (p.Val420Gly)
n.485T>G
n.443T>G
n.677T>G
c.2435T>G (p.Val812Gly)
c.2144T>G (p.Val715Gly)
c.1079T>G (p.Val360Gly)
c.1208T>G (p.Val403Gly)
c.2210T>G (p.Val737Gly)
c.992T>G (p.Val331Gly)
c.2264T>G (p.Val755Gly)
c.1166T>G (p.Val389Gly)
n.6451T>G
c.2522T>G (p.Val841Gly)
c.2429T>G (p.Val810Gly)
c.2348T>G (p.Val783Gly)
c.2324T>G (p.Val775Gly)
c.2231T>G (p.Val744Gly)
c.1457T>G (p.Val486Gly)
c.1370T>G (p.Val457Gly)
c.1283T>G (p.Val428Gly)
c.772-1013T>G (n.772-1013T>G)
n.1090T>G
17g.46024105A>CCA500371502MAPTc.1173A>C (p.Val391=)
c.1086A>C (p.Val362=)
c.1260A>C (p.Val420=)
n.486A>C
n.444A>C
n.678A>C
c.2436A>C (p.Val812=)
c.2145A>C (p.Val715=)
c.1080A>C (p.Val360=)
c.1209A>C (p.Val403=)
c.2211A>C (p.Val737=)
c.993A>C (p.Val331=)
c.2265A>C (p.Val755=)
c.1167A>C (p.Val389=)
n.6452A>C
c.2523A>C (p.Val841=)
c.2430A>C (p.Val810=)
c.2349A>C (p.Val783=)
c.2325A>C (p.Val775=)
c.2232A>C (p.Val744=)
c.1458A>C (p.Val486=)
c.1371A>C (p.Val457=)
c.1284A>C (p.Val428=)
c.772-1012A>C (n.772-1012A>C)
n.1091A>C
 ClinVar
17g.46024105A>GCA500371504MAPTc.1173A>G (p.Val391=)
c.1086A>G (p.Val362=)
c.1260A>G (p.Val420=)
n.486A>G
n.444A>G
n.678A>G
c.2436A>G (p.Val812=)
c.2145A>G (p.Val715=)
c.1080A>G (p.Val360=)
c.1209A>G (p.Val403=)
c.2211A>G (p.Val737=)
c.993A>G (p.Val331=)
c.2265A>G (p.Val755=)
c.1167A>G (p.Val389=)
n.6452A>G
c.2523A>G (p.Val841=)
c.2430A>G (p.Val810=)
c.2349A>G (p.Val783=)
c.2325A>G (p.Val775=)
c.2232A>G (p.Val744=)
c.1458A>G (p.Val486=)
c.1371A>G (p.Val457=)
c.1284A>G (p.Val428=)
c.772-1012A>G (n.772-1012A>G)
n.1091A>G
17g.46024105A>TCA500371503MAPTc.1173A>T (p.Val391=)
c.1086A>T (p.Val362=)
c.1260A>T (p.Val420=)
n.486A>T
n.444A>T
n.678A>T
c.2436A>T (p.Val812=)
c.2145A>T (p.Val715=)
c.1080A>T (p.Val360=)
c.1209A>T (p.Val403=)
c.2211A>T (p.Val737=)
c.993A>T (p.Val331=)
c.2265A>T (p.Val755=)
c.1167A>T (p.Val389=)
n.6452A>T
c.2523A>T (p.Val841=)
c.2430A>T (p.Val810=)
c.2349A>T (p.Val783=)
c.2325A>T (p.Val775=)
c.2232A>T (p.Val744=)
c.1458A>T (p.Val486=)
c.1371A>T (p.Val457=)
c.1284A>T (p.Val428=)
c.772-1012A>T (n.772-1012A>T)
n.1091A>T
17g.46024106G>ACA399984577MAPTc.1174G>A (p.Asp392Asn)
c.1087G>A (p.Asp363Asn)
c.1261G>A (p.Asp421Asn)
n.487G>A
n.445G>A
n.679G>A
c.2437G>A (p.Asp813Asn)
c.2146G>A (p.Asp716Asn)
c.1081G>A (p.Asp361Asn)
c.1210G>A (p.Asp404Asn)
c.2212G>A (p.Asp738Asn)
c.994G>A (p.Asp332Asn)
c.2266G>A (p.Asp756Asn)
c.1168G>A (p.Asp390Asn)
n.6453G>A
c.2524G>A (p.Asp842Asn)
c.2431G>A (p.Asp811Asn)
c.2350G>A (p.Asp784Asn)
c.2326G>A (p.Asp776Asn)
c.2233G>A (p.Asp745Asn)
c.1459G>A (p.Asp487Asn)
c.1372G>A (p.Asp458Asn)
c.1285G>A (p.Asp429Asn)
c.772-1011G>A (n.772-1011G>A)
n.1092G>A
17g.46024106G>CCA399984578MAPTc.1174G>C (p.Asp392His)
c.1087G>C (p.Asp363His)
c.1261G>C (p.Asp421His)
n.487G>C
n.445G>C
n.679G>C
c.2437G>C (p.Asp813His)
c.2146G>C (p.Asp716His)
c.1081G>C (p.Asp361His)
c.1210G>C (p.Asp404His)
c.2212G>C (p.Asp738His)
c.994G>C (p.Asp332His)
c.2266G>C (p.Asp756His)
c.1168G>C (p.Asp390His)
n.6453G>C
c.2524G>C (p.Asp842His)
c.2431G>C (p.Asp811His)
c.2350G>C (p.Asp784His)
c.2326G>C (p.Asp776His)
c.2233G>C (p.Asp745His)
c.1459G>C (p.Asp487His)
c.1372G>C (p.Asp458His)
c.1285G>C (p.Asp429His)
c.772-1011G>C (n.772-1011G>C)
n.1092G>C
17g.46024106G>TCA399984579MAPTc.1174G>T (p.Asp392Tyr)
c.1087G>T (p.Asp363Tyr)
c.1261G>T (p.Asp421Tyr)
n.487G>T
n.445G>T
n.679G>T
c.2437G>T (p.Asp813Tyr)
c.2146G>T (p.Asp716Tyr)
c.1081G>T (p.Asp361Tyr)
c.1210G>T (p.Asp404Tyr)
c.2212G>T (p.Asp738Tyr)
c.994G>T (p.Asp332Tyr)
c.2266G>T (p.Asp756Tyr)
c.1168G>T (p.Asp390Tyr)
n.6453G>T
c.2524G>T (p.Asp842Tyr)
c.2431G>T (p.Asp811Tyr)
c.2350G>T (p.Asp784Tyr)
c.2326G>T (p.Asp776Tyr)
c.2233G>T (p.Asp745Tyr)
c.1459G>T (p.Asp487Tyr)
c.1372G>T (p.Asp458Tyr)
c.1285G>T (p.Asp429Tyr)
c.772-1011G>T (n.772-1011G>T)
n.1092G>T
17g.46024107A>CCA399984580MAPTc.1175A>C (p.Asp392Ala)
c.1088A>C (p.Asp363Ala)
c.1262A>C (p.Asp421Ala)
n.488A>C
n.446A>C
n.680A>C
c.2438A>C (p.Asp813Ala)
c.2147A>C (p.Asp716Ala)
c.1082A>C (p.Asp361Ala)
c.1211A>C (p.Asp404Ala)
c.2213A>C (p.Asp738Ala)
c.995A>C (p.Asp332Ala)
c.2267A>C (p.Asp756Ala)
c.1169A>C (p.Asp390Ala)
n.6454A>C
c.2525A>C (p.Asp842Ala)
c.2432A>C (p.Asp811Ala)
c.2351A>C (p.Asp784Ala)
c.2327A>C (p.Asp776Ala)
c.2234A>C (p.Asp745Ala)
c.1460A>C (p.Asp487Ala)
c.1373A>C (p.Asp458Ala)
c.1286A>C (p.Asp429Ala)
c.772-1010A>C (n.772-1010A>C)
n.1093A>C
17g.46024107A>GCA399984581MAPTc.1175A>G (p.Asp392Gly)
c.1088A>G (p.Asp363Gly)
c.1262A>G (p.Asp421Gly)
n.488A>G
n.446A>G
n.680A>G
c.2438A>G (p.Asp813Gly)
c.2147A>G (p.Asp716Gly)
c.1082A>G (p.Asp361Gly)
c.1211A>G (p.Asp404Gly)
c.2213A>G (p.Asp738Gly)
c.995A>G (p.Asp332Gly)
c.2267A>G (p.Asp756Gly)
c.1169A>G (p.Asp390Gly)
n.6454A>G
c.2525A>G (p.Asp842Gly)
c.2432A>G (p.Asp811Gly)
c.2351A>G (p.Asp784Gly)
c.2327A>G (p.Asp776Gly)
c.2234A>G (p.Asp745Gly)
c.1460A>G (p.Asp487Gly)
c.1373A>G (p.Asp458Gly)
c.1286A>G (p.Asp429Gly)
c.772-1010A>G (n.772-1010A>G)
n.1093A>G
17g.46024107A>TCA399984582MAPTc.1175A>T (p.Asp392Val)
c.1088A>T (p.Asp363Val)
c.1262A>T (p.Asp421Val)
n.488A>T
n.446A>T
n.680A>T
c.2438A>T (p.Asp813Val)
c.2147A>T (p.Asp716Val)
c.1082A>T (p.Asp361Val)
c.1211A>T (p.Asp404Val)
c.2213A>T (p.Asp738Val)
c.995A>T (p.Asp332Val)
c.2267A>T (p.Asp756Val)
c.1169A>T (p.Asp390Val)
n.6454A>T
c.2525A>T (p.Asp842Val)
c.2432A>T (p.Asp811Val)
c.2351A>T (p.Asp784Val)
c.2327A>T (p.Asp776Val)
c.2234A>T (p.Asp745Val)
c.1460A>T (p.Asp487Val)
c.1373A>T (p.Asp458Val)
c.1286A>T (p.Asp429Val)
c.772-1010A>T (n.772-1010A>T)
n.1093A>T
17g.46024108C>ACA399984583MAPTc.1176C>A (p.Asp392Glu)
c.1089C>A (p.Asp363Glu)
c.1263C>A (p.Asp421Glu)
n.489C>A
n.447C>A
n.681C>A
c.2439C>A (p.Asp813Glu)
c.2148C>A (p.Asp716Glu)
c.1083C>A (p.Asp361Glu)
c.1212C>A (p.Asp404Glu)
c.2214C>A (p.Asp738Glu)
c.996C>A (p.Asp332Glu)
c.2268C>A (p.Asp756Glu)
c.1170C>A (p.Asp390Glu)
n.6455C>A
c.2526C>A (p.Asp842Glu)
c.2433C>A (p.Asp811Glu)
c.2352C>A (p.Asp784Glu)
c.2328C>A (p.Asp776Glu)
c.2235C>A (p.Asp745Glu)
c.1461C>A (p.Asp487Glu)
c.1374C>A (p.Asp458Glu)
c.1287C>A (p.Asp429Glu)
c.772-1009C>A (n.772-1009C>A)
n.1094C>A
17g.46024108C>GCA399984584MAPTc.1176C>G (p.Asp392Glu)
c.1089C>G (p.Asp363Glu)
c.1263C>G (p.Asp421Glu)
n.489C>G
n.447C>G
n.681C>G
c.2439C>G (p.Asp813Glu)
c.2148C>G (p.Asp716Glu)
c.1083C>G (p.Asp361Glu)
c.1212C>G (p.Asp404Glu)
c.2214C>G (p.Asp738Glu)
c.996C>G (p.Asp332Glu)
c.2268C>G (p.Asp756Glu)
c.1170C>G (p.Asp390Glu)
n.6455C>G
c.2526C>G (p.Asp842Glu)
c.2433C>G (p.Asp811Glu)
c.2352C>G (p.Asp784Glu)
c.2328C>G (p.Asp776Glu)
c.2235C>G (p.Asp745Glu)
c.1461C>G (p.Asp487Glu)
c.1374C>G (p.Asp458Glu)
c.1287C>G (p.Asp429Glu)
c.772-1009C>G (n.772-1009C>G)
n.1094C>G
17g.46024108C>TCA500371505MAPTc.1176C>T (p.Asp392=)
c.1089C>T (p.Asp363=)
c.1263C>T (p.Asp421=)
n.489C>T
n.447C>T
n.681C>T
c.2439C>T (p.Asp813=)
c.2148C>T (p.Asp716=)
c.1083C>T (p.Asp361=)
c.1212C>T (p.Asp404=)
c.2214C>T (p.Asp738=)
c.996C>T (p.Asp332=)
c.2268C>T (p.Asp756=)
c.1170C>T (p.Asp390=)
n.6455C>T
c.2526C>T (p.Asp842=)
c.2433C>T (p.Asp811=)
c.2352C>T (p.Asp784=)
c.2328C>T (p.Asp776=)
c.2235C>T (p.Asp745=)
c.1461C>T (p.Asp487=)
c.1374C>T (p.Asp458=)
c.1287C>T (p.Asp429=)
c.772-1009C>T (n.772-1009C>T)
n.1094C>T
17g.46024109T>ACA399984587MAPTc.1177T>A (p.Ser393Thr)
c.1090T>A (p.Ser364Thr)
c.1264T>A (p.Ser422Thr)
n.490T>A
n.448T>A
n.682T>A
c.2440T>A (p.Ser814Thr)
c.2149T>A (p.Ser717Thr)
c.1084T>A (p.Ser362Thr)
c.1213T>A (p.Ser405Thr)
c.2215T>A (p.Ser739Thr)
c.997T>A (p.Ser333Thr)
c.2269T>A (p.Ser757Thr)
c.1171T>A (p.Ser391Thr)
n.6456T>A
c.2527T>A (p.Ser843Thr)
c.2434T>A (p.Ser812Thr)
c.2353T>A (p.Ser785Thr)
c.2329T>A (p.Ser777Thr)
c.2236T>A (p.Ser746Thr)
c.1462T>A (p.Ser488Thr)
c.1375T>A (p.Ser459Thr)
c.1288T>A (p.Ser430Thr)
c.772-1008T>A (n.772-1008T>A)
n.1095T>A
17g.46024109T>CCA399984586MAPTc.1177T>C (p.Ser393Pro)
c.1090T>C (p.Ser364Pro)
c.1264T>C (p.Ser422Pro)
n.490T>C
n.448T>C
n.682T>C
c.2440T>C (p.Ser814Pro)
c.2149T>C (p.Ser717Pro)
c.1084T>C (p.Ser362Pro)
c.1213T>C (p.Ser405Pro)
c.2215T>C (p.Ser739Pro)
c.997T>C (p.Ser333Pro)
c.2269T>C (p.Ser757Pro)
c.1171T>C (p.Ser391Pro)
n.6456T>C
c.2527T>C (p.Ser843Pro)
c.2434T>C (p.Ser812Pro)
c.2353T>C (p.Ser785Pro)
c.2329T>C (p.Ser777Pro)
c.2236T>C (p.Ser746Pro)
c.1462T>C (p.Ser488Pro)
c.1375T>C (p.Ser459Pro)
c.1288T>C (p.Ser430Pro)
c.772-1008T>C (n.772-1008T>C)
n.1095T>C
17g.46024109T>GCA399984585MAPTc.1177T>G (p.Ser393Ala)
c.1090T>G (p.Ser364Ala)
c.1264T>G (p.Ser422Ala)
n.490T>G
n.448T>G
n.682T>G
c.2440T>G (p.Ser814Ala)
c.2149T>G (p.Ser717Ala)
c.1084T>G (p.Ser362Ala)
c.1213T>G (p.Ser405Ala)
c.2215T>G (p.Ser739Ala)
c.997T>G (p.Ser333Ala)
c.2269T>G (p.Ser757Ala)
c.1171T>G (p.Ser391Ala)
n.6456T>G
c.2527T>G (p.Ser843Ala)
c.2434T>G (p.Ser812Ala)
c.2353T>G (p.Ser785Ala)
c.2329T>G (p.Ser777Ala)
c.2236T>G (p.Ser746Ala)
c.1462T>G (p.Ser488Ala)
c.1375T>G (p.Ser459Ala)
c.1288T>G (p.Ser430Ala)
c.772-1008T>G (n.772-1008T>G)
n.1095T>G
17g.46024110C>ACA399984588MAPTc.1178C>A (p.Ser393Ter)
c.1091C>A (p.Ser364Ter)
c.1265C>A (p.Ser422Ter)
n.491C>A
n.449C>A
n.683C>A
c.2441C>A (p.Ser814Ter)
c.2150C>A (p.Ser717Ter)
c.1085C>A (p.Ser362Ter)
c.1214C>A (p.Ser405Ter)
c.2216C>A (p.Ser739Ter)
c.998C>A (p.Ser333Ter)
c.2270C>A (p.Ser757Ter)
c.1172C>A (p.Ser391Ter)
n.6457C>A
c.2528C>A (p.Ser843Ter)
c.2435C>A (p.Ser812Ter)
c.2354C>A (p.Ser785Ter)
c.2330C>A (p.Ser777Ter)
c.2237C>A (p.Ser746Ter)
c.1463C>A (p.Ser488Ter)
c.1376C>A (p.Ser459Ter)
c.1289C>A (p.Ser430Ter)
c.772-1007C>A (n.772-1007C>A)
n.1096C>A
17g.46024110C>GCA399984590MAPTc.1178C>G (p.Ser393Trp)
c.1091C>G (p.Ser364Trp)
c.1265C>G (p.Ser422Trp)
n.491C>G
n.449C>G
n.683C>G
c.2441C>G (p.Ser814Trp)
c.2150C>G (p.Ser717Trp)
c.1085C>G (p.Ser362Trp)
c.1214C>G (p.Ser405Trp)
c.2216C>G (p.Ser739Trp)
c.998C>G (p.Ser333Trp)
c.2270C>G (p.Ser757Trp)
c.1172C>G (p.Ser391Trp)
n.6457C>G
c.2528C>G (p.Ser843Trp)
c.2435C>G (p.Ser812Trp)
c.2354C>G (p.Ser785Trp)
c.2330C>G (p.Ser777Trp)
c.2237C>G (p.Ser746Trp)
c.1463C>G (p.Ser488Trp)
c.1376C>G (p.Ser459Trp)
c.1289C>G (p.Ser430Trp)
c.772-1007C>G (n.772-1007C>G)
n.1096C>G
17g.46024110C>TCA399984589MAPTc.1178C>T (p.Ser393Leu)
c.1091C>T (p.Ser364Leu)
c.1265C>T (p.Ser422Leu)
n.491C>T
n.449C>T
n.683C>T
c.2441C>T (p.Ser814Leu)
c.2150C>T (p.Ser717Leu)
c.1085C>T (p.Ser362Leu)
c.1214C>T (p.Ser405Leu)
c.2216C>T (p.Ser739Leu)
c.998C>T (p.Ser333Leu)
c.2270C>T (p.Ser757Leu)
c.1172C>T (p.Ser391Leu)
n.6457C>T
c.2528C>T (p.Ser843Leu)
c.2435C>T (p.Ser812Leu)
c.2354C>T (p.Ser785Leu)
c.2330C>T (p.Ser777Leu)
c.2237C>T (p.Ser746Leu)
c.1463C>T (p.Ser488Leu)
c.1376C>T (p.Ser459Leu)
c.1289C>T (p.Ser430Leu)
c.772-1007C>T (n.772-1007C>T)
n.1096C>T
 gnomAD v4

Number of alleles fetched