Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.38351528T>ACA391934523SPRED1c.1199T>A (p.Phe400Tyr)
c.1235T>A (p.Phe412Tyr)
c.977T>A (p.Phe326Tyr)
c.1136T>A (p.Phe379Tyr)
ClinVar
15g.38351528T>CCA391934525SPRED1c.1199T>C (p.Phe400Ser)
c.1235T>C (p.Phe412Ser)
c.977T>C (p.Phe326Ser)
c.1136T>C (p.Phe379Ser)
gnomAD v4
15g.38351528T>GCA391934527SPRED1c.1199T>G (p.Phe400Cys)
c.1235T>G (p.Phe412Cys)
c.977T>G (p.Phe326Cys)
c.1136T>G (p.Phe379Cys)
15g.38351529C>ACA391934528SPRED1c.1200C>A (p.Phe400Leu)
c.1236C>A (p.Phe412Leu)
c.978C>A (p.Phe326Leu)
c.1137C>A (p.Phe379Leu)
15g.38351529C>GCA391934533SPRED1c.1200C>G (p.Phe400Leu)
c.1236C>G (p.Phe412Leu)
c.978C>G (p.Phe326Leu)
c.1137C>G (p.Phe379Leu)
gnomAD v4
15g.38351529C>TCA490012537SPRED1c.1200C>T (p.Phe400=)
c.1236C>T (p.Phe412=)
c.978C>T (p.Phe326=)
c.1137C>T (p.Phe379=)
ClinVar dbSNP
15g.38351530T>ACA391934536SPRED1c.1201T>A (p.Cys401Ser)
c.1237T>A (p.Cys413Ser)
c.979T>A (p.Cys327Ser)
c.1138T>A (p.Cys380Ser)
15g.38351530T>CCA391934534SPRED1c.1201T>C (p.Cys401Arg)
c.1237T>C (p.Cys413Arg)
c.979T>C (p.Cys327Arg)
c.1138T>C (p.Cys380Arg)
gnomAD v4
15g.38351530T>GCA391934535SPRED1c.1201T>G (p.Cys401Gly)
c.1237T>G (p.Cys413Gly)
c.979T>G (p.Cys327Gly)
c.1138T>G (p.Cys380Gly)
15g.38351533_38351536dupCA658761259SPRED1c.1204_1207dup (p.Arg403LeufsTer30)
c.1240_1243dup (p.Arg415LeufsTer30)
c.982_985dup (p.Arg329LeufsTer30)
c.1141_1144dup (p.Arg382LeufsTer30)
15g.38351531G>ACA391934538SPRED1c.1202G>A (p.Cys401Tyr)
c.1238G>A (p.Cys413Tyr)
c.980G>A (p.Cys327Tyr)
c.1139G>A (p.Cys380Tyr)
15g.38351531G>CCA391934539SPRED1c.1202G>C (p.Cys401Ser)
c.1238G>C (p.Cys413Ser)
c.980G>C (p.Cys327Ser)
c.1139G>C (p.Cys380Ser)
dbSNP gnomAD v3 gnomAD v4
15g.38351531G=CA2170812751SPRED1c.1202G= (p.Cys401=)
c.1238G= (p.Cys413=)
c.980G= (p.Cys327=)
c.1139G= (p.Cys380=)
15g.38351531G>TCA7470243SPRED1c.1202G>T (p.Cys401Phe)
c.1238G>T (p.Cys413Phe)
c.980G>T (p.Cys327Phe)
c.1139G>T (p.Cys380Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351532C>ACA391934541SPRED1c.1203C>A (p.Cys401Ter)
c.1239C>A (p.Cys413Ter)
c.981C>A (p.Cys327Ter)
c.1140C>A (p.Cys380Ter)
15g.38351532C>GCA391934543SPRED1c.1203C>G (p.Cys401Trp)
c.1239C>G (p.Cys413Trp)
c.981C>G (p.Cys327Trp)
c.1140C>G (p.Cys380Trp)
15g.38351532C>TCA490012540SPRED1c.1203C>T (p.Cys401=)
c.1239C>T (p.Cys413=)
c.981C>T (p.Cys327=)
c.1140C>T (p.Cys380=)
ClinVar dbSNP gnomAD v4
15g.38351533T>ACA391934544SPRED1c.1204T>A (p.Leu402Met)
c.1240T>A (p.Leu414Met)
c.982T>A (p.Leu328Met)
c.1141T>A (p.Leu381Met)
15g.38351533T>CCA7470244SPRED1c.1204T>C (p.Leu402=)
c.1240T>C (p.Leu414=)
c.982T>C (p.Leu328=)
c.1141T>C (p.Leu381=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.38351533T>GCA391934546SPRED1c.1204T>G (p.Leu402Val)
c.1240T>G (p.Leu414Val)
c.982T>G (p.Leu328Val)
c.1141T>G (p.Leu381Val)
15g.38351533T=CA2170812752SPRED1c.1204T= (p.Leu402=)
c.1240T= (p.Leu414=)
c.982T= (p.Leu328=)
c.1141T= (p.Leu381=)
15g.38351534T>ACA391934548SPRED1c.1205T>A (p.Leu402Ter)
c.1241T>A (p.Leu414Ter)
c.983T>A (p.Leu328Ter)
c.1142T>A (p.Leu381Ter)
15g.38351534T>CCA391934550SPRED1c.1205T>C (p.Leu402Ser)
c.1241T>C (p.Leu414Ser)
c.983T>C (p.Leu328Ser)
c.1142T>C (p.Leu381Ser)
15g.38351534T>GCA391934553SPRED1c.1205T>G (p.Leu402Trp)
c.1241T>G (p.Leu414Trp)
c.983T>G (p.Leu328Trp)
c.1142T>G (p.Leu381Trp)
15g.38351535G>ACA490012542SPRED1c.1206G>A (p.Leu402=)
c.1242G>A (p.Leu414=)
c.984G>A (p.Leu328=)
c.1143G>A (p.Leu381=)
ClinVar
15g.38351535G>CCA391934555SPRED1c.1206G>C (p.Leu402Phe)
c.1242G>C (p.Leu414Phe)
c.984G>C (p.Leu328Phe)
c.1143G>C (p.Leu381Phe)
15g.38351535G>TCA391934556SPRED1c.1206G>T (p.Leu402Phe)
c.1242G>T (p.Leu414Phe)
c.984G>T (p.Leu328Phe)
c.1143G>T (p.Leu381Phe)
15g.38351535_38351546delCA2501080789SPRED1c.1206_1217del (p.Leu402_Ala406delinsPhe)
c.1242_1253del (p.Leu414_Ala418delinsPhe)
c.984_995del (p.Leu328_Ala332delinsPhe)
c.1143_1154del (p.Leu381_Ala385delinsPhe)
15g.38351536C>ACA490012545SPRED1c.1207C>A (p.Arg403=)
c.1243C>A (p.Arg415=)
c.985C>A (p.Arg329=)
c.1144C>A (p.Arg382=)
15g.38351536C=CA2170812753SPRED1c.1207C= (p.Arg403=)
c.1243C= (p.Arg415=)
c.985C= (p.Arg329=)
c.1144C= (p.Arg382=)
15g.38351536C>GCA391934558SPRED1c.1207C>G (p.Arg403Gly)
c.1243C>G (p.Arg415Gly)
c.985C>G (p.Arg329Gly)
c.1144C>G (p.Arg382Gly)
15g.38351536C>TCA391934560SPRED1c.1207C>T (p.Arg403Ter)
c.1243C>T (p.Arg415Ter)
c.985C>T (p.Arg329Ter)
c.1144C>T (p.Arg382Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.38351537G>ACA7470245SPRED1c.1208G>A (p.Arg403Gln)
c.1244G>A (p.Arg415Gln)
c.986G>A (p.Arg329Gln)
c.1145G>A (p.Arg382Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351537G>CCA391934563SPRED1c.1208G>C (p.Arg403Pro)
c.1244G>C (p.Arg415Pro)
c.986G>C (p.Arg329Pro)
c.1145G>C (p.Arg382Pro)
15g.38351537G=CA2170812754SPRED1c.1208G= (p.Arg403=)
c.1244G= (p.Arg415=)
c.986G= (p.Arg329=)
c.1145G= (p.Arg382=)
15g.38351537G>TCA391934561SPRED1c.1208G>T (p.Arg403Leu)
c.1244G>T (p.Arg415Leu)
c.986G>T (p.Arg329Leu)
c.1145G>T (p.Arg382Leu)
dbSNP gnomAD v2 gnomAD v4
15g.38351538A>CCA490012553SPRED1c.1209A>C (p.Arg403=)
c.1245A>C (p.Arg415=)
c.987A>C (p.Arg329=)
c.1146A>C (p.Arg382=)
15g.38351538A>GCA490012552SPRED1c.1209A>G (p.Arg403=)
c.1245A>G (p.Arg415=)
c.987A>G (p.Arg329=)
c.1146A>G (p.Arg382=)
15g.38351538A>TCA490012551SPRED1c.1209A>T (p.Arg403=)
c.1245A>T (p.Arg415=)
c.987A>T (p.Arg329=)
c.1146A>T (p.Arg382=)
15g.38351539T>ACA391934565SPRED1c.1210T>A (p.Trp404Arg)
c.1246T>A (p.Trp416Arg)
c.988T>A (p.Trp330Arg)
c.1147T>A (p.Trp383Arg)
15g.38351539T>CCA391934568SPRED1c.1210T>C (p.Trp404Arg)
c.1246T>C (p.Trp416Arg)
c.988T>C (p.Trp330Arg)
c.1147T>C (p.Trp383Arg)
15g.38351539T>GCA7470246SPRED1c.1210T>G (p.Trp404Gly)
c.1246T>G (p.Trp416Gly)
c.988T>G (p.Trp330Gly)
c.1147T>G (p.Trp383Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.38351539T=CA2170812755SPRED1c.1210T= (p.Trp404=)
c.1246T= (p.Trp416=)
c.988T= (p.Trp330=)
c.1147T= (p.Trp383=)
15g.38351540G>ACA391934569SPRED1c.1211G>A (p.Trp404Ter)
c.1247G>A (p.Trp416Ter)
c.989G>A (p.Trp330Ter)
c.1148G>A (p.Trp383Ter)
ClinVar dbSNP
15g.38351540G>CCA391934571SPRED1c.1211G>C (p.Trp404Ser)
c.1247G>C (p.Trp416Ser)
c.989G>C (p.Trp330Ser)
c.1148G>C (p.Trp383Ser)
15g.38351540G=CA2170812756SPRED1c.1211G= (p.Trp404=)
c.1247G= (p.Trp416=)
c.989G= (p.Trp330=)
c.1148G= (p.Trp383=)
15g.38351540G>TCA391934570SPRED1c.1211G>T (p.Trp404Leu)
c.1247G>T (p.Trp416Leu)
c.989G>T (p.Trp330Leu)
c.1148G>T (p.Trp383Leu)
15g.38351541G>ACA391934572SPRED1c.1212G>A (p.Trp404Ter)
c.1248G>A (p.Trp416Ter)
c.990G>A (p.Trp330Ter)
c.1149G>A (p.Trp383Ter)
15g.38351541G>CCA391934573SPRED1c.1212G>C (p.Trp404Cys)
c.1248G>C (p.Trp416Cys)
c.990G>C (p.Trp330Cys)
c.1149G>C (p.Trp383Cys)
15g.38351541G>TCA391934575SPRED1c.1212G>T (p.Trp404Cys)
c.1248G>T (p.Trp416Cys)
c.990G>T (p.Trp330Cys)
c.1149G>T (p.Trp383Cys)
15g.38351542T>ACA391934577SPRED1c.1213T>A (p.Leu405Ile)
c.1249T>A (p.Leu417Ile)
c.991T>A (p.Leu331Ile)
c.1150T>A (p.Leu384Ile)
15g.38351542T>CCA490012558SPRED1c.1213T>C (p.Leu405=)
c.1249T>C (p.Leu417=)
c.991T>C (p.Leu331=)
c.1150T>C (p.Leu384=)
15g.38351542T>GCA391934578SPRED1c.1213T>G (p.Leu405Val)
c.1249T>G (p.Leu417Val)
c.991T>G (p.Leu331Val)
c.1150T>G (p.Leu384Val)
15g.38351543T>ACA391934580SPRED1c.1214T>A (p.Leu405Ter)
c.1250T>A (p.Leu417Ter)
c.992T>A (p.Leu331Ter)
c.1151T>A (p.Leu384Ter)
15g.38351543T>CCA391934582SPRED1c.1214T>C (p.Leu405Ser)
c.1250T>C (p.Leu417Ser)
c.992T>C (p.Leu331Ser)
c.1151T>C (p.Leu384Ser)
15g.38351543T>GCA391934583SPRED1c.1214T>G (p.Leu405Ter)
c.1250T>G (p.Leu417Ter)
c.992T>G (p.Leu331Ter)
c.1151T>G (p.Leu384Ter)
15g.38351544A=CA2170812757SPRED1c.1215A= (p.Leu405=)
c.1251A= (p.Leu417=)
c.993A= (p.Leu331=)
c.1152A= (p.Leu384=)
15g.38351544A>CCA391934585SPRED1c.1215A>C (p.Leu405Phe)
c.1251A>C (p.Leu417Phe)
c.993A>C (p.Leu331Phe)
c.1152A>C (p.Leu384Phe)
15g.38351544A>GCA490012561SPRED1c.1215A>G (p.Leu405=)
c.1251A>G (p.Leu417=)
c.993A>G (p.Leu331=)
c.1152A>G (p.Leu384=)
ClinVar dbSNP gnomAD v4
15g.38351544A>TCA391934587SPRED1c.1215A>T (p.Leu405Phe)
c.1251A>T (p.Leu417Phe)
c.993A>T (p.Leu331Phe)
c.1152A>T (p.Leu384Phe)
15g.38351545G>ACA7470247SPRED1c.1216G>A (p.Ala406Thr)
c.1252G>A (p.Ala418Thr)
c.994G>A (p.Ala332Thr)
c.1153G>A (p.Ala385Thr)
ClinVar dbSNP ExAC gnomAD v2
15g.38351545G>CCA391934589SPRED1c.1216G>C (p.Ala406Pro)
c.1252G>C (p.Ala418Pro)
c.994G>C (p.Ala332Pro)
c.1153G>C (p.Ala385Pro)
15g.38351545G=CA2170812758SPRED1c.1216G= (p.Ala406=)
c.1252G= (p.Ala418=)
c.994G= (p.Ala332=)
c.1153G= (p.Ala385=)
15g.38351545G>TCA391934591SPRED1c.1216G>T (p.Ala406Ser)
c.1252G>T (p.Ala418Ser)
c.994G>T (p.Ala332Ser)
c.1153G>T (p.Ala385Ser)
gnomAD v4
15g.38351546C>ACA391934595SPRED1c.1217C>A (p.Ala406Asp)
c.1253C>A (p.Ala418Asp)
c.995C>A (p.Ala332Asp)
c.1154C>A (p.Ala385Asp)
15g.38351546C=CA2170812759SPRED1c.1217C= (p.Ala406=)
c.1253C= (p.Ala418=)
c.995C= (p.Ala332=)
c.1154C= (p.Ala385=)
15g.38351546C>GCA391934593SPRED1c.1217C>G (p.Ala406Gly)
c.1253C>G (p.Ala418Gly)
c.995C>G (p.Ala332Gly)
c.1154C>G (p.Ala385Gly)
15g.38351546C>TCA7470248SPRED1c.1217C>T (p.Ala406Val)
c.1253C>T (p.Ala418Val)
c.995C>T (p.Ala332Val)
c.1154C>T (p.Ala385Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351547C>ACA490012562SPRED1c.1218C>A (p.Ala406=)
c.1254C>A (p.Ala418=)
c.996C>A (p.Ala332=)
c.1155C>A (p.Ala385=)
15g.38351547C>GCA490012563SPRED1c.1218C>G (p.Ala406=)
c.1254C>G (p.Ala418=)
c.996C>G (p.Ala332=)
c.1155C>G (p.Ala385=)
15g.38351547C>TCA490012564SPRED1c.1218C>T (p.Ala406=)
c.1254C>T (p.Ala418=)
c.996C>T (p.Ala332=)
c.1155C>T (p.Ala385=)
15g.38351548C>ACA391934597SPRED1c.1219C>A (p.Leu407Met)
c.1255C>A (p.Leu419Met)
c.997C>A (p.Leu333Met)
c.1156C>A (p.Leu386Met)
dbSNP gnomAD v2 gnomAD v4
15g.38351548C=CA2170812760SPRED1c.1219C= (p.Leu407=)
c.1255C= (p.Leu419=)
c.997C= (p.Leu333=)
c.1156C= (p.Leu386=)
15g.38351548C>GCA391934599SPRED1c.1219C>G (p.Leu407Val)
c.1255C>G (p.Leu419Val)
c.997C>G (p.Leu333Val)
c.1156C>G (p.Leu386Val)
15g.38351548C>TCA490012566SPRED1c.1219C>T (p.Leu407=)
c.1255C>T (p.Leu419=)
c.997C>T (p.Leu333=)
c.1156C>T (p.Leu386=)
15g.38351549T>ACA391934600SPRED1c.1220T>A (p.Leu407Gln)
c.1256T>A (p.Leu419Gln)
c.998T>A (p.Leu333Gln)
c.1157T>A (p.Leu386Gln)
15g.38351549T>CCA391934601SPRED1c.1220T>C (p.Leu407Pro)
c.1256T>C (p.Leu419Pro)
c.998T>C (p.Leu333Pro)
c.1157T>C (p.Leu386Pro)
dbSNP gnomAD v2 gnomAD v4
15g.38351549T>GCA391934603SPRED1c.1220T>G (p.Leu407Arg)
c.1256T>G (p.Leu419Arg)
c.998T>G (p.Leu333Arg)
c.1157T>G (p.Leu386Arg)
15g.38351549T=CA2170812761SPRED1c.1220T= (p.Leu407=)
c.1256T= (p.Leu419=)
c.998T= (p.Leu333=)
c.1157T= (p.Leu386=)
15g.38351550G>ACA490012570SPRED1c.1221G>A (p.Leu407=)
c.1257G>A (p.Leu419=)
c.999G>A (p.Leu333=)
c.1158G>A (p.Leu386=)
15g.38351550G>CCA490012571SPRED1c.1221G>C (p.Leu407=)
c.1257G>C (p.Leu419=)
c.999G>C (p.Leu333=)
c.1158G>C (p.Leu386=)
15g.38351550G>TCA490012572SPRED1c.1221G>T (p.Leu407=)
c.1257G>T (p.Leu419=)
c.999G>T (p.Leu333=)
c.1158G>T (p.Leu386=)
15g.38351550_38351571delCA2513772032SPRED1c.1221_1242del (p.Val408HisfsTer9)
c.1257_1278del (p.Val420HisfsTer9)
c.999_1020del (p.Val334HisfsTer9)
c.1158_1179del (p.Val387HisfsTer9)
15g.38351551G>ACA391934606SPRED1c.1222G>A (p.Val408Ile)
c.1258G>A (p.Val420Ile)
c.1000G>A (p.Val334Ile)
c.1159G>A (p.Val387Ile)
gnomAD v4
15g.38351551G>CCA391934609SPRED1c.1222G>C (p.Val408Leu)
c.1258G>C (p.Val420Leu)
c.1000G>C (p.Val334Leu)
c.1159G>C (p.Val387Leu)
15g.38351551G=CA2170812762SPRED1c.1222G= (p.Val408=)
c.1258G= (p.Val420=)
c.1000G= (p.Val334=)
c.1159G= (p.Val387=)
15g.38351551G>TCA7470249SPRED1c.1222G>T (p.Val408Leu)
c.1258G>T (p.Val420Leu)
c.1000G>T (p.Val334Leu)
c.1159G>T (p.Val387Leu)
dbSNP ExAC gnomAD v2
15g.38351552T>ACA391934610SPRED1c.1223T>A (p.Val408Glu)
c.1259T>A (p.Val420Glu)
c.1001T>A (p.Val334Glu)
c.1160T>A (p.Val387Glu)
15g.38351552T>CCA391934612SPRED1c.1223T>C (p.Val408Ala)
c.1259T>C (p.Val420Ala)
c.1001T>C (p.Val334Ala)
c.1160T>C (p.Val387Ala)
15g.38351552T>GCA391934613SPRED1c.1223T>G (p.Val408Gly)
c.1259T>G (p.Val420Gly)
c.1001T>G (p.Val334Gly)
c.1160T>G (p.Val387Gly)
15g.38351553delCA2697554337SPRED1c.1224del (p.Ala409LeufsTer15)
c.1260del (p.Ala421LeufsTer15)
c.1002del (p.Ala335LeufsTer15)
c.1161del (p.Ala388LeufsTer15)
ClinVar
15g.38351553A=CA2170812763SPRED1c.1224A= (p.Val408=)
c.1260A= (p.Val420=)
c.1002A= (p.Val334=)
c.1161A= (p.Val387=)
15g.38351553A>CCA490012575SPRED1c.1224A>C (p.Val408=)
c.1260A>C (p.Val420=)
c.1002A>C (p.Val334=)
c.1161A>C (p.Val387=)
15g.38351553A>GCA490012576SPRED1c.1224A>G (p.Val408=)
c.1260A>G (p.Val420=)
c.1002A>G (p.Val334=)
c.1161A>G (p.Val387=)
ClinVar dbSNP gnomAD v4
15g.38351553A>TCA490012577SPRED1c.1224A>T (p.Val408=)
c.1260A>T (p.Val420=)
c.1002A>T (p.Val334=)
c.1161A>T (p.Val387=)
15g.38351554G>ACA7470251SPRED1c.1225G>A (p.Ala409Thr)
c.1261G>A (p.Ala421Thr)
c.1003G>A (p.Ala335Thr)
c.1162G>A (p.Ala388Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.38351554G>CCA391934616SPRED1c.1225G>C (p.Ala409Pro)
c.1261G>C (p.Ala421Pro)
c.1003G>C (p.Ala335Pro)
c.1162G>C (p.Ala388Pro)
15g.38351554G=CA2170812764SPRED1c.1225G= (p.Ala409=)
c.1261G= (p.Ala421=)
c.1003G= (p.Ala335=)
c.1162G= (p.Ala388=)
15g.38351554G>TCA7470250SPRED1c.1225G>T (p.Ala409Ser)
c.1261G>T (p.Ala421Ser)
c.1003G>T (p.Ala335Ser)
c.1162G>T (p.Ala388Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351554_38351555delinsTTCA658824654SPRED1c.1225_1226delinsTT (p.Ala409Phe)
c.1261_1262delinsTT (p.Ala421Phe)
c.1003_1004delinsTT (p.Ala335Phe)
c.1162_1163delinsTT (p.Ala388Phe)
ClinVar
15g.38351555C>ACA391934619SPRED1c.1226C>A (p.Ala409Asp)
c.1262C>A (p.Ala421Asp)
c.1004C>A (p.Ala335Asp)
c.1163C>A (p.Ala388Asp)
15g.38351555C=CA2170812765SPRED1c.1226C= (p.Ala409=)
c.1262C= (p.Ala421=)
c.1004C= (p.Ala335=)
c.1163C= (p.Ala388=)
15g.38351555C>GCA391934621SPRED1c.1226C>G (p.Ala409Gly)
c.1262C>G (p.Ala421Gly)
c.1004C>G (p.Ala335Gly)
c.1163C>G (p.Ala388Gly)
15g.38351555C>TCA7470252SPRED1c.1226C>T (p.Ala409Val)
c.1262C>T (p.Ala421Val)
c.1004C>T (p.Ala335Val)
c.1163C>T (p.Ala388Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351556T>ACA490012582SPRED1c.1227T>A (p.Ala409=)
c.1263T>A (p.Ala421=)
c.1005T>A (p.Ala335=)
c.1164T>A (p.Ala388=)
15g.38351556T>CCA490012583SPRED1c.1227T>C (p.Ala409=)
c.1263T>C (p.Ala421=)
c.1005T>C (p.Ala335=)
c.1164T>C (p.Ala388=)
15g.38351556T>GCA490012581SPRED1c.1227T>G (p.Ala409=)
c.1263T>G (p.Ala421=)
c.1005T>G (p.Ala335=)
c.1164T>G (p.Ala388=)
gnomAD v4
15g.38351557T>ACA391934622SPRED1c.1228T>A (p.Leu410Met)
c.1264T>A (p.Leu422Met)
c.1006T>A (p.Leu336Met)
c.1165T>A (p.Leu389Met)
15g.38351557T>CCA490012584SPRED1c.1228T>C (p.Leu410=)
c.1264T>C (p.Leu422=)
c.1006T>C (p.Leu336=)
c.1165T>C (p.Leu389=)
15g.38351557T>GCA391934623SPRED1c.1228T>G (p.Leu410Val)
c.1264T>G (p.Leu422Val)
c.1006T>G (p.Leu336Val)
c.1165T>G (p.Leu389Val)
15g.38351561_38351570delCA2499222899SPRED1c.1232_1241del (p.Ser411TyrfsTer10)
c.1268_1277del (p.Ser423TyrfsTer10)
c.1010_1019del (p.Ser337TyrfsTer10)
c.1169_1178del (p.Ser390TyrfsTer10)
ClinVar dbSNP
15g.38351558T>ACA391934625SPRED1c.1229T>A (p.Leu410Ter)
c.1265T>A (p.Leu422Ter)
c.1007T>A (p.Leu336Ter)
c.1166T>A (p.Leu389Ter)
15g.38351558T>CCA391934627SPRED1c.1229T>C (p.Leu410Ser)
c.1265T>C (p.Leu422Ser)
c.1007T>C (p.Leu336Ser)
c.1166T>C (p.Leu389Ser)
dbSNP gnomAD v3 gnomAD v4
15g.38351558T>GCA391934628SPRED1c.1229T>G (p.Leu410Trp)
c.1265T>G (p.Leu422Trp)
c.1007T>G (p.Leu336Trp)
c.1166T>G (p.Leu389Trp)
15g.38351558T=CA2170812766SPRED1c.1229T= (p.Leu410=)
c.1265T= (p.Leu422=)
c.1007T= (p.Leu336=)
c.1166T= (p.Leu389=)
15g.38351559G>ACA490012586SPRED1c.1230G>A (p.Leu410=)
c.1266G>A (p.Leu422=)
c.1008G>A (p.Leu336=)
c.1167G>A (p.Leu389=)
15g.38351559G>CCA391934630SPRED1c.1230G>C (p.Leu410Phe)
c.1266G>C (p.Leu422Phe)
c.1008G>C (p.Leu336Phe)
c.1167G>C (p.Leu389Phe)
15g.38351559G>TCA391934631SPRED1c.1230G>T (p.Leu410Phe)
c.1266G>T (p.Leu422Phe)
c.1008G>T (p.Leu336Phe)
c.1167G>T (p.Leu389Phe)
15g.38351560T>ACA391934633SPRED1c.1231T>A (p.Ser411Thr)
c.1267T>A (p.Ser423Thr)
c.1009T>A (p.Ser337Thr)
c.1168T>A (p.Ser390Thr)
15g.38351560T>CCA391934635SPRED1c.1231T>C (p.Ser411Pro)
c.1267T>C (p.Ser423Pro)
c.1009T>C (p.Ser337Pro)
c.1168T>C (p.Ser390Pro)
ClinVar
15g.38351560T>GCA391934637SPRED1c.1231T>G (p.Ser411Ala)
c.1267T>G (p.Ser423Ala)
c.1009T>G (p.Ser337Ala)
c.1168T>G (p.Ser390Ala)
15g.38351561C>ACA391934638SPRED1c.1232C>A (p.Ser411Tyr)
c.1268C>A (p.Ser423Tyr)
c.1010C>A (p.Ser337Tyr)
c.1169C>A (p.Ser390Tyr)
15g.38351561C>GCA391934641SPRED1c.1232C>G (p.Ser411Cys)
c.1268C>G (p.Ser423Cys)
c.1010C>G (p.Ser337Cys)
c.1169C>G (p.Ser390Cys)
ClinVar gnomAD v4
15g.38351561C>TCA391934643SPRED1c.1232C>T (p.Ser411Phe)
c.1268C>T (p.Ser423Phe)
c.1010C>T (p.Ser337Phe)
c.1169C>T (p.Ser390Phe)
ClinVar
15g.38351562T>ACA490012593SPRED1c.1233T>A (p.Ser411=)
c.1269T>A (p.Ser423=)
c.1011T>A (p.Ser337=)
c.1170T>A (p.Ser390=)
15g.38351562T>CCA490012591SPRED1c.1233T>C (p.Ser411=)
c.1269T>C (p.Ser423=)
c.1011T>C (p.Ser337=)
c.1170T>C (p.Ser390=)
15g.38351562T>GCA490012590SPRED1c.1233T>G (p.Ser411=)
c.1269T>G (p.Ser423=)
c.1011T>G (p.Ser337=)
c.1170T>G (p.Ser390=)
15g.38351564dupCA2580089340SPRED1c.1235dup (p.Ile413HisfsTer19)
c.1271dup (p.Ile425HisfsTer19)
c.1013dup (p.Ile339HisfsTer19)
c.1172dup (p.Ile392HisfsTer19)
ClinVar
15g.38351563T>ACA391934645SPRED1c.1234T>A (p.Phe412Ile)
c.1270T>A (p.Phe424Ile)
c.1012T>A (p.Phe338Ile)
c.1171T>A (p.Phe391Ile)
15g.38351563T>CCA391934647SPRED1c.1234T>C (p.Phe412Leu)
c.1270T>C (p.Phe424Leu)
c.1012T>C (p.Phe338Leu)
c.1171T>C (p.Phe391Leu)
15g.38351563T>GCA391934646SPRED1c.1234T>G (p.Phe412Val)
c.1270T>G (p.Phe424Val)
c.1012T>G (p.Phe338Val)
c.1171T>G (p.Phe391Val)
15g.38351564T>ACA391934648SPRED1c.1235T>A (p.Phe412Tyr)
c.1271T>A (p.Phe424Tyr)
c.1013T>A (p.Phe338Tyr)
c.1172T>A (p.Phe391Tyr)
15g.38351564T>CCA391934649SPRED1c.1235T>C (p.Phe412Ser)
c.1271T>C (p.Phe424Ser)
c.1013T>C (p.Phe338Ser)
c.1172T>C (p.Phe391Ser)
15g.38351564T>GCA391934650SPRED1c.1235T>G (p.Phe412Cys)
c.1271T>G (p.Phe424Cys)
c.1013T>G (p.Phe338Cys)
c.1172T>G (p.Phe391Cys)
15g.38351565C>ACA391934651SPRED1c.1236C>A (p.Phe412Leu)
c.1272C>A (p.Phe424Leu)
c.1014C>A (p.Phe338Leu)
c.1173C>A (p.Phe391Leu)
15g.38351565C>GCA391934652SPRED1c.1236C>G (p.Phe412Leu)
c.1272C>G (p.Phe424Leu)
c.1014C>G (p.Phe338Leu)
c.1173C>G (p.Phe391Leu)
gnomAD v4
15g.38351565C>TCA490012595SPRED1c.1236C>T (p.Phe412=)
c.1272C>T (p.Phe424=)
c.1014C>T (p.Phe338=)
c.1173C>T (p.Phe391=)
gnomAD v4 COSMIC
15g.38351566A>CCA391934653SPRED1c.1237A>C (p.Ile413Leu)
c.1273A>C (p.Ile425Leu)
c.1015A>C (p.Ile339Leu)
c.1174A>C (p.Ile392Leu)
15g.38351566A>GCA391934654SPRED1c.1237A>G (p.Ile413Val)
c.1273A>G (p.Ile425Val)
c.1015A>G (p.Ile339Val)
c.1174A>G (p.Ile392Val)
gnomAD v4
15g.38351566A>TCA391934655SPRED1c.1237A>T (p.Ile413Phe)
c.1273A>T (p.Ile425Phe)
c.1015A>T (p.Ile339Phe)
c.1174A>T (p.Ile392Phe)
15g.38351566_38351567delCA2573150675SPRED1c.1237_1238del (p.Ile413CysfsTer18)
c.1273_1274del (p.Ile425CysfsTer18)
c.1015_1016del (p.Ile339CysfsTer18)
c.1174_1175del (p.Ile392CysfsTer18)
ClinVar dbSNP
15g.38351567T>ACA391934656SPRED1c.1238T>A (p.Ile413Asn)
c.1274T>A (p.Ile425Asn)
c.1016T>A (p.Ile339Asn)
c.1175T>A (p.Ile392Asn)
15g.38351567T>CCA391934657SPRED1c.1238T>C (p.Ile413Thr)
c.1274T>C (p.Ile425Thr)
c.1016T>C (p.Ile339Thr)
c.1175T>C (p.Ile392Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.38351567T>GCA391934658SPRED1c.1238T>G (p.Ile413Ser)
c.1274T>G (p.Ile425Ser)
c.1016T>G (p.Ile339Ser)
c.1175T>G (p.Ile392Ser)
15g.38351567T=CA2170812767SPRED1c.1238T= (p.Ile413=)
c.1274T= (p.Ile425=)
c.1016T= (p.Ile339=)
c.1175T= (p.Ile392=)
15g.38351568T>ACA490012597SPRED1c.1239T>A (p.Ile413=)
c.1275T>A (p.Ile425=)
c.1017T>A (p.Ile339=)
c.1176T>A (p.Ile392=)
15g.38351568T>CCA7470253SPRED1c.1239T>C (p.Ile413=)
c.1275T>C (p.Ile425=)
c.1017T>C (p.Ile339=)
c.1176T>C (p.Ile392=)
dbSNP ExAC
15g.38351568T>GCA391934659SPRED1c.1239T>G (p.Ile413Met)
c.1275T>G (p.Ile425Met)
c.1017T>G (p.Ile339Met)
c.1176T>G (p.Ile392Met)
15g.38351568T=CA2170812768SPRED1c.1239T= (p.Ile413=)
c.1275T= (p.Ile425=)
c.1017T= (p.Ile339=)
c.1176T= (p.Ile392=)
15g.38351569G>ACA391934660SPRED1c.1240G>A (p.Val414Ile)
c.1276G>A (p.Val426Ile)
c.1018G>A (p.Val340Ile)
c.1177G>A (p.Val393Ile)
gnomAD v4
15g.38351569G>CCA391934662SPRED1c.1240G>C (p.Val414Leu)
c.1276G>C (p.Val426Leu)
c.1018G>C (p.Val340Leu)
c.1177G>C (p.Val393Leu)
15g.38351569G>TCA391934661SPRED1c.1240G>T (p.Val414Leu)
c.1276G>T (p.Val426Leu)
c.1018G>T (p.Val340Leu)
c.1177G>T (p.Val393Leu)
15g.38351570T>ACA391934663SPRED1c.1241T>A (p.Val414Glu)
c.1277T>A (p.Val426Glu)
c.1019T>A (p.Val340Glu)
c.1178T>A (p.Val393Glu)
15g.38351570T>CCA391934664SPRED1c.1241T>C (p.Val414Ala)
c.1277T>C (p.Val426Ala)
c.1019T>C (p.Val340Ala)
c.1178T>C (p.Val393Ala)
15g.38351570T>GCA391934665SPRED1c.1241T>G (p.Val414Gly)
c.1277T>G (p.Val426Gly)
c.1019T>G (p.Val340Gly)
c.1178T>G (p.Val393Gly)
15g.38351571A=CA2170812769SPRED1c.1242A= (p.Val414=)
c.1278A= (p.Val426=)
c.1020A= (p.Val340=)
c.1179A= (p.Val393=)
15g.38351571A>CCA269293463SPRED1c.1242A>C (p.Val414=)
c.1278A>C (p.Val426=)
c.1020A>C (p.Val340=)
c.1179A>C (p.Val393=)
dbSNP gnomAD v2 gnomAD v4
15g.38351571A>GCA490012601SPRED1c.1242A>G (p.Val414=)
c.1278A>G (p.Val426=)
c.1020A>G (p.Val340=)
c.1179A>G (p.Val393=)
dbSNP
15g.38351571A>TCA490012602SPRED1c.1242A>T (p.Val414=)
c.1278A>T (p.Val426=)
c.1020A>T (p.Val340=)
c.1179A>T (p.Val393=)
15g.38351572C>ACA391934666SPRED1c.1243C>A (p.Pro415Thr)
c.1279C>A (p.Pro427Thr)
c.1021C>A (p.Pro341Thr)
c.1180C>A (p.Pro394Thr)
15g.38351572C>GCA391934667SPRED1c.1243C>G (p.Pro415Ala)
c.1279C>G (p.Pro427Ala)
c.1021C>G (p.Pro341Ala)
c.1180C>G (p.Pro394Ala)
15g.38351572C>TCA391934668SPRED1c.1243C>T (p.Pro415Ser)
c.1279C>T (p.Pro427Ser)
c.1021C>T (p.Pro341Ser)
c.1180C>T (p.Pro394Ser)
15g.38351573C>ACA391934669SPRED1c.1244C>A (p.Pro415Gln)
c.1280C>A (p.Pro427Gln)
c.1022C>A (p.Pro341Gln)
c.1181C>A (p.Pro394Gln)
15g.38351573C>GCA391934670SPRED1c.1244C>G (p.Pro415Arg)
c.1280C>G (p.Pro427Arg)
c.1022C>G (p.Pro341Arg)
c.1181C>G (p.Pro394Arg)
15g.38351573C>TCA391934671SPRED1c.1244C>T (p.Pro415Leu)
c.1280C>T (p.Pro427Leu)
c.1022C>T (p.Pro341Leu)
c.1181C>T (p.Pro394Leu)
15g.38351574A=CA2170812770SPRED1c.1245A= (p.Pro415=)
c.1281A= (p.Pro427=)
c.1023A= (p.Pro341=)
c.1182A= (p.Pro394=)
15g.38351574A>CCA490012604SPRED1c.1245A>C (p.Pro415=)
c.1281A>C (p.Pro427=)
c.1023A>C (p.Pro341=)
c.1182A>C (p.Pro394=)
15g.38351574A>GCA269293464SPRED1c.1245A>G (p.Pro415=)
c.1281A>G (p.Pro427=)
c.1023A>G (p.Pro341=)
c.1182A>G (p.Pro394=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.38351574A>TCA490012605SPRED1c.1245A>T (p.Pro415=)
c.1281A>T (p.Pro427=)
c.1023A>T (p.Pro341=)
c.1182A>T (p.Pro394=)
15g.38351575T>ACA391934672SPRED1c.1246T>A (p.Cys416Ser)
c.1282T>A (p.Cys428Ser)
c.1024T>A (p.Cys342Ser)
c.1183T>A (p.Cys395Ser)
15g.38351575T>CCA391934673SPRED1c.1246T>C (p.Cys416Arg)
c.1282T>C (p.Cys428Arg)
c.1024T>C (p.Cys342Arg)
c.1183T>C (p.Cys395Arg)
ClinVar dbSNP gnomAD v4
15g.38351575T>GCA391934674SPRED1c.1246T>G (p.Cys416Gly)
c.1282T>G (p.Cys428Gly)
c.1024T>G (p.Cys342Gly)
c.1183T>G (p.Cys395Gly)
ClinVar dbSNP gnomAD v4
15g.38351575T=CA2170812771SPRED1c.1246T= (p.Cys416=)
c.1282T= (p.Cys428=)
c.1024T= (p.Cys342=)
c.1183T= (p.Cys395=)
15g.38351576G>ACA391934677SPRED1c.1247G>A (p.Cys416Tyr)
c.1283G>A (p.Cys428Tyr)
c.1025G>A (p.Cys342Tyr)
c.1184G>A (p.Cys395Tyr)
gnomAD v4
15g.38351576G>CCA391934675SPRED1c.1247G>C (p.Cys416Ser)
c.1283G>C (p.Cys428Ser)
c.1025G>C (p.Cys342Ser)
c.1184G>C (p.Cys395Ser)
15g.38351576G>TCA391934676SPRED1c.1247G>T (p.Cys416Phe)
c.1283G>T (p.Cys428Phe)
c.1025G>T (p.Cys342Phe)
c.1184G>T (p.Cys395Phe)
15g.38351577T>ACA391934678SPRED1c.1248T>A (p.Cys416Ter)
c.1284T>A (p.Cys428Ter)
c.1026T>A (p.Cys342Ter)
c.1185T>A (p.Cys395Ter)
ClinVar dbSNP
15g.38351577T>CCA490012607SPRED1c.1248T>C (p.Cys416=)
c.1284T>C (p.Cys428=)
c.1026T>C (p.Cys342=)
c.1185T>C (p.Cys395=)
15g.38351577T>GCA391934679SPRED1c.1248T>G (p.Cys416Trp)
c.1284T>G (p.Cys428Trp)
c.1026T>G (p.Cys342Trp)
c.1185T>G (p.Cys395Trp)
15g.38351577dupCA658761260SPRED1c.1248dup (p.Met417TyrfsTer15)
c.1284dup (p.Met429TyrfsTer15)
c.1026dup (p.Met343TyrfsTer15)
c.1185dup (p.Met396TyrfsTer15)
15g.38351578A>CCA391934680SPRED1c.1249A>C (p.Met417Leu)
c.1285A>C (p.Met429Leu)
c.1027A>C (p.Met343Leu)
c.1186A>C (p.Met396Leu)
15g.38351578A>GCA391934681SPRED1c.1249A>G (p.Met417Val)
c.1285A>G (p.Met429Val)
c.1027A>G (p.Met343Val)
c.1186A>G (p.Met396Val)
gnomAD v4
15g.38351578A>TCA391934682SPRED1c.1249A>T (p.Met417Leu)
c.1285A>T (p.Met429Leu)
c.1027A>T (p.Met343Leu)
c.1186A>T (p.Met396Leu)
15g.38351579T>ACA391934683SPRED1c.1250T>A (p.Met417Lys)
c.1286T>A (p.Met429Lys)
c.1028T>A (p.Met343Lys)
c.1187T>A (p.Met396Lys)
15g.38351579T>CCA391934684SPRED1c.1250T>C (p.Met417Thr)
c.1286T>C (p.Met429Thr)
c.1028T>C (p.Met343Thr)
c.1187T>C (p.Met396Thr)
gnomAD v4
15g.38351579T>GCA391934685SPRED1c.1250T>G (p.Met417Arg)
c.1286T>G (p.Met429Arg)
c.1028T>G (p.Met343Arg)
c.1187T>G (p.Met396Arg)
15g.38351580G>ACA391934686SPRED1c.1251G>A (p.Met417Ile)
c.1287G>A (p.Met429Ile)
c.1029G>A (p.Met343Ile)
c.1188G>A (p.Met396Ile)
15g.38351580G>CCA391934687SPRED1c.1251G>C (p.Met417Ile)
c.1287G>C (p.Met429Ile)
c.1029G>C (p.Met343Ile)
c.1188G>C (p.Met396Ile)
dbSNP gnomAD v2 gnomAD v4
15g.38351580G=CA2170812772SPRED1c.1251G= (p.Met417=)
c.1287G= (p.Met429=)
c.1029G= (p.Met343=)
c.1188G= (p.Met396=)
15g.38351580G>TCA391934688SPRED1c.1251G>T (p.Met417Ile)
c.1287G>T (p.Met429Ile)
c.1029G>T (p.Met343Ile)
c.1188G>T (p.Met396Ile)
15g.38351581delCA658761261SPRED1c.1252del (p.Cys418AlafsTer6)
c.1288del (p.Cys430AlafsTer6)
c.1030del (p.Cys344AlafsTer6)
c.1189del (p.Cys397AlafsTer6)
15g.38351581T>ACA391934691SPRED1c.1252T>A (p.Cys418Ser)
c.1288T>A (p.Cys430Ser)
c.1030T>A (p.Cys344Ser)
c.1189T>A (p.Cys397Ser)
15g.38351581T>CCA391934690SPRED1c.1252T>C (p.Cys418Arg)
c.1288T>C (p.Cys430Arg)
c.1030T>C (p.Cys344Arg)
c.1189T>C (p.Cys397Arg)
15g.38351581T>GCA391934689SPRED1c.1252T>G (p.Cys418Gly)
c.1288T>G (p.Cys430Gly)
c.1030T>G (p.Cys344Gly)
c.1189T>G (p.Cys397Gly)
15g.38351582G>ACA391934692SPRED1c.1253G>A (p.Cys418Tyr)
c.1289G>A (p.Cys430Tyr)
c.1031G>A (p.Cys344Tyr)
c.1190G>A (p.Cys397Tyr)
gnomAD v4
15g.38351582G>CCA391934693SPRED1c.1253G>C (p.Cys418Ser)
c.1289G>C (p.Cys430Ser)
c.1031G>C (p.Cys344Ser)
c.1190G>C (p.Cys397Ser)
15g.38351582G>TCA391934694SPRED1c.1253G>T (p.Cys418Phe)
c.1289G>T (p.Cys430Phe)
c.1031G>T (p.Cys344Phe)
c.1190G>T (p.Cys397Phe)
15g.38351583C>ACA391934695SPRED1c.1254C>A (p.Cys418Ter)
c.1290C>A (p.Cys430Ter)
c.1032C>A (p.Cys344Ter)
c.1191C>A (p.Cys397Ter)
15g.38351583C>GCA391934696SPRED1c.1254C>G (p.Cys418Trp)
c.1290C>G (p.Cys430Trp)
c.1032C>G (p.Cys344Trp)
c.1191C>G (p.Cys397Trp)
15g.38351583C>TCA490012614SPRED1c.1254C>T (p.Cys418=)
c.1290C>T (p.Cys430=)
c.1032C>T (p.Cys344=)
c.1191C>T (p.Cys397=)
ClinVar dbSNP gnomAD v4
15g.38351584T>ACA391934697SPRED1c.1255T>A (p.Cys419Ser)
c.1291T>A (p.Cys431Ser)
c.1033T>A (p.Cys345Ser)
c.1192T>A (p.Cys398Ser)
15g.38351584T>CCA391934698SPRED1c.1255T>C (p.Cys419Arg)
c.1291T>C (p.Cys431Arg)
c.1033T>C (p.Cys345Arg)
c.1192T>C (p.Cys398Arg)
15g.38351584T>GCA391934699SPRED1c.1255T>G (p.Cys419Gly)
c.1291T>G (p.Cys431Gly)
c.1033T>G (p.Cys345Gly)
c.1192T>G (p.Cys398Gly)
15g.38351585G>ACA391934700SPRED1c.1256G>A (p.Cys419Tyr)
c.1292G>A (p.Cys431Tyr)
c.1034G>A (p.Cys345Tyr)
c.1193G>A (p.Cys398Tyr)
gnomAD v4
15g.38351585G>CCA391934701SPRED1c.1256G>C (p.Cys419Ser)
c.1292G>C (p.Cys431Ser)
c.1034G>C (p.Cys345Ser)
c.1193G>C (p.Cys398Ser)
15g.38351585G>TCA391934702SPRED1c.1256G>T (p.Cys419Phe)
c.1292G>T (p.Cys431Phe)
c.1034G>T (p.Cys345Phe)
c.1193G>T (p.Cys398Phe)
15g.38351586C>ACA391934703SPRED1c.1257C>A (p.Cys419Ter)
c.1293C>A (p.Cys431Ter)
c.1035C>A (p.Cys345Ter)
c.1194C>A (p.Cys398Ter)
15g.38351586C=CA2170812773SPRED1c.1257C= (p.Cys419=)
c.1293C= (p.Cys431=)
c.1035C= (p.Cys345=)
c.1194C= (p.Cys398=)
15g.38351586C>GCA391934704SPRED1c.1257C>G (p.Cys419Trp)
c.1293C>G (p.Cys431Trp)
c.1035C>G (p.Cys345Trp)
c.1194C>G (p.Cys398Trp)
dbSNP
15g.38351586C>TCA490012616SPRED1c.1257C>T (p.Cys419=)
c.1293C>T (p.Cys431=)
c.1035C>T (p.Cys345=)
c.1194C>T (p.Cys398=)
15g.38351587T>ACA391934707SPRED1c.1258T>A (p.Tyr420Asn)
c.1294T>A (p.Tyr432Asn)
c.1036T>A (p.Tyr346Asn)
c.1195T>A (p.Tyr399Asn)
15g.38351587T>CCA391934705SPRED1c.1258T>C (p.Tyr420His)
c.1294T>C (p.Tyr432His)
c.1036T>C (p.Tyr346His)
c.1195T>C (p.Tyr399His)
15g.38351587T>GCA391934706SPRED1c.1258T>G (p.Tyr420Asp)
c.1294T>G (p.Tyr432Asp)
c.1036T>G (p.Tyr346Asp)
c.1195T>G (p.Tyr399Asp)
15g.38351588A=CA2170812774SPRED1c.1259A= (p.Tyr420=)
c.1295A= (p.Tyr432=)
c.1037A= (p.Tyr346=)
c.1196A= (p.Tyr399=)
15g.38351588A>CCA391934708SPRED1c.1259A>C (p.Tyr420Ser)
c.1295A>C (p.Tyr432Ser)
c.1037A>C (p.Tyr346Ser)
c.1196A>C (p.Tyr399Ser)
dbSNP gnomAD v2
15g.38351588A>GCA391934709SPRED1c.1259A>G (p.Tyr420Cys)
c.1295A>G (p.Tyr432Cys)
c.1037A>G (p.Tyr346Cys)
c.1196A>G (p.Tyr399Cys)
15g.38351588A>TCA391934710SPRED1c.1259A>T (p.Tyr420Phe)
c.1295A>T (p.Tyr432Phe)
c.1037A>T (p.Tyr346Phe)
c.1196A>T (p.Tyr399Phe)
15g.38351589C>ACA391934711SPRED1c.1260C>A (p.Tyr420Ter)
c.1296C>A (p.Tyr432Ter)
c.1038C>A (p.Tyr346Ter)
c.1197C>A (p.Tyr399Ter)
COSMIC
15g.38351589C=CA2170812775SPRED1c.1260C= (p.Tyr420=)
c.1296C= (p.Tyr432=)
c.1038C= (p.Tyr346=)
c.1197C= (p.Tyr399=)
15g.38351589C>GCA391934712SPRED1c.1260C>G (p.Tyr420Ter)
c.1296C>G (p.Tyr432Ter)
c.1038C>G (p.Tyr346Ter)
c.1197C>G (p.Tyr399Ter)
15g.38351589C>TCA7470254SPRED1c.1260C>T (p.Tyr420=)
c.1296C>T (p.Tyr432=)
c.1038C>T (p.Tyr346=)
c.1197C>T (p.Tyr399=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351590G>ACA7470255SPRED1c.1261G>A (p.Val421Ile)
c.1297G>A (p.Val433Ile)
c.1039G>A (p.Val347Ile)
c.1198G>A (p.Val400Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351590G>CCA391934713SPRED1c.1261G>C (p.Val421Leu)
c.1297G>C (p.Val433Leu)
c.1039G>C (p.Val347Leu)
c.1198G>C (p.Val400Leu)
15g.38351590G=CA2170812776SPRED1c.1261G= (p.Val421=)
c.1297G= (p.Val433=)
c.1039G= (p.Val347=)
c.1198G= (p.Val400=)
15g.38351590G>TCA391934714SPRED1c.1261G>T (p.Val421Phe)
c.1297G>T (p.Val433Phe)
c.1039G>T (p.Val347Phe)
c.1198G>T (p.Val400Phe)
15g.38351591T>ACA391934715SPRED1c.1262T>A (p.Val421Asp)
c.1298T>A (p.Val433Asp)
c.1040T>A (p.Val347Asp)
c.1199T>A (p.Val400Asp)
15g.38351591T>CCA391934716SPRED1c.1262T>C (p.Val421Ala)
c.1298T>C (p.Val433Ala)
c.1040T>C (p.Val347Ala)
c.1199T>C (p.Val400Ala)
15g.38351591T>GCA391934717SPRED1c.1262T>G (p.Val421Gly)
c.1298T>G (p.Val433Gly)
c.1040T>G (p.Val347Gly)
c.1199T>G (p.Val400Gly)
gnomAD v4
15g.38351592C>ACA490012618SPRED1c.1263C>A (p.Val421=)
c.1299C>A (p.Val433=)
c.1041C>A (p.Val347=)
c.1200C>A (p.Val400=)
15g.38351592C>GCA490012619SPRED1c.1263C>G (p.Val421=)
c.1299C>G (p.Val433=)
c.1041C>G (p.Val347=)
c.1200C>G (p.Val400=)
15g.38351592C>TCA490012620SPRED1c.1263C>T (p.Val421=)
c.1299C>T (p.Val433=)
c.1041C>T (p.Val347=)
c.1200C>T (p.Val400=)
15g.38351593C>ACA391934718SPRED1c.1264C>A (p.Pro422Thr)
c.1300C>A (p.Pro434Thr)
c.1042C>A (p.Pro348Thr)
c.1201C>A (p.Pro401Thr)
15g.38351593C>GCA391934720SPRED1c.1264C>G (p.Pro422Ala)
c.1300C>G (p.Pro434Ala)
c.1042C>G (p.Pro348Ala)
c.1201C>G (p.Pro401Ala)
15g.38351593C>TCA391934719SPRED1c.1264C>T (p.Pro422Ser)
c.1300C>T (p.Pro434Ser)
c.1042C>T (p.Pro348Ser)
c.1201C>T (p.Pro401Ser)
15g.38351594C>ACA391934721SPRED1c.1265C>A (p.Pro422His)
c.1301C>A (p.Pro434His)
c.1043C>A (p.Pro348His)
c.1202C>A (p.Pro401His)
15g.38351594C>GCA391934723SPRED1c.1265C>G (p.Pro422Arg)
c.1301C>G (p.Pro434Arg)
c.1043C>G (p.Pro348Arg)
c.1202C>G (p.Pro401Arg)
15g.38351594C>TCA391934722SPRED1c.1265C>T (p.Pro422Leu)
c.1301C>T (p.Pro434Leu)
c.1043C>T (p.Pro348Leu)
c.1202C>T (p.Pro401Leu)
COSMIC
15g.38351595T>ACA490012624SPRED1c.1266T>A (p.Pro422=)
c.1302T>A (p.Pro434=)
c.1044T>A (p.Pro348=)
c.1203T>A (p.Pro401=)
15g.38351595T>CCA490012621SPRED1c.1266T>C (p.Pro422=)
c.1302T>C (p.Pro434=)
c.1044T>C (p.Pro348=)
c.1203T>C (p.Pro401=)
15g.38351595T>GCA490012623SPRED1c.1266T>G (p.Pro422=)
c.1302T>G (p.Pro434=)
c.1044T>G (p.Pro348=)
c.1203T>G (p.Pro401=)
15g.38351596T>ACA391934724SPRED1c.1267T>A (p.Leu423Met)
c.1303T>A (p.Leu435Met)
c.1045T>A (p.Leu349Met)
c.1204T>A (p.Leu402Met)
15g.38351596T>CCA490012625SPRED1c.1267T>C (p.Leu423=)
c.1303T>C (p.Leu435=)
c.1045T>C (p.Leu349=)
c.1204T>C (p.Leu402=)
dbSNP
15g.38351596T>GCA391934725SPRED1c.1267T>G (p.Leu423Val)
c.1303T>G (p.Leu435Val)
c.1045T>G (p.Leu349Val)
c.1204T>G (p.Leu402Val)
15g.38351596T=CA2170812777SPRED1c.1267T= (p.Leu423=)
c.1303T= (p.Leu435=)
c.1045T= (p.Leu349=)
c.1204T= (p.Leu402=)
15g.38351597T>ACA391934726SPRED1c.1268T>A (p.Leu423Ter)
c.1304T>A (p.Leu435Ter)
c.1046T>A (p.Leu349Ter)
c.1205T>A (p.Leu402Ter)
15g.38351597T>CCA391934727SPRED1c.1268T>C (p.Leu423Ser)
c.1304T>C (p.Leu435Ser)
c.1046T>C (p.Leu349Ser)
c.1205T>C (p.Leu402Ser)
15g.38351597T>GCA391934728SPRED1c.1268T>G (p.Leu423Trp)
c.1304T>G (p.Leu435Trp)
c.1046T>G (p.Leu349Trp)
c.1205T>G (p.Leu402Trp)
15g.38351598G>ACA490012626SPRED1c.1269G>A (p.Leu423=)
c.1305G>A (p.Leu435=)
c.1047G>A (p.Leu349=)
c.1206G>A (p.Leu402=)
15g.38351598G>CCA391934729SPRED1c.1269G>C (p.Leu423Phe)
c.1305G>C (p.Leu435Phe)
c.1047G>C (p.Leu349Phe)
c.1206G>C (p.Leu402Phe)
dbSNP
15g.38351598G=CA2170812778SPRED1c.1269G= (p.Leu423=)
c.1305G= (p.Leu435=)
c.1047G= (p.Leu349=)
c.1206G= (p.Leu402=)
15g.38351598G>TCA391934730SPRED1c.1269G>T (p.Leu423Phe)
c.1305G>T (p.Leu435Phe)
c.1047G>T (p.Leu349Phe)
c.1206G>T (p.Leu402Phe)
15g.38351600_38351601delCA2697554338SPRED1c.1271_1272del (p.Arg424AsnfsTer7)
c.1307_1308del (p.Arg436AsnfsTer7)
c.1049_1050del (p.Arg350AsnfsTer7)
c.1208_1209del (p.Arg403AsnfsTer7)
ClinVar
15g.38351599A>CCA490012627SPRED1c.1270A>C (p.Arg424=)
c.1306A>C (p.Arg436=)
c.1048A>C (p.Arg350=)
c.1207A>C (p.Arg403=)
15g.38351599A>GCA391934731SPRED1c.1270A>G (p.Arg424Gly)
c.1306A>G (p.Arg436Gly)
c.1048A>G (p.Arg350Gly)
c.1207A>G (p.Arg403Gly)
15g.38351599A>TCA391934732SPRED1c.1270A>T (p.Arg424Ter)
c.1306A>T (p.Arg436Ter)
c.1048A>T (p.Arg350Ter)
c.1207A>T (p.Arg403Ter)
15g.38351600G>ACA391934733SPRED1c.1271G>A (p.Arg424Lys)
c.1307G>A (p.Arg436Lys)
c.1049G>A (p.Arg350Lys)
c.1208G>A (p.Arg403Lys)
15g.38351600G>CCA391934734SPRED1c.1271G>C (p.Arg424Thr)
c.1307G>C (p.Arg436Thr)
c.1049G>C (p.Arg350Thr)
c.1208G>C (p.Arg403Thr)
15g.38351600G>TCA391934735SPRED1c.1271G>T (p.Arg424Ile)
c.1307G>T (p.Arg436Ile)
c.1049G>T (p.Arg350Ile)
c.1208G>T (p.Arg403Ile)
15g.38351601A>CCA391934736SPRED1c.1272A>C (p.Arg424Ser)
c.1308A>C (p.Arg436Ser)
c.1050A>C (p.Arg350Ser)
c.1209A>C (p.Arg403Ser)
15g.38351601A>GCA490012633SPRED1c.1272A>G (p.Arg424=)
c.1308A>G (p.Arg436=)
c.1050A>G (p.Arg350=)
c.1209A>G (p.Arg403=)
15g.38351601A>TCA391934737SPRED1c.1272A>T (p.Arg424Ser)
c.1308A>T (p.Arg436Ser)
c.1050A>T (p.Arg350Ser)
c.1209A>T (p.Arg403Ser)
15g.38351602delCA2580089342SPRED1c.1273del (p.Met425CysfsTer?)
c.1309del (p.Met437CysfsTer?)
c.1051del (p.Met351CysfsTer?)
c.1210del (p.Met404CysfsTer?)
ClinVar dbSNP
15g.38351602A=CA2170812779SPRED1c.1273A= (p.Met425=)
c.1309A= (p.Met437=)
c.1051A= (p.Met351=)
c.1210A= (p.Met404=)
15g.38351602A>CCA391934738SPRED1c.1273A>C (p.Met425Leu)
c.1309A>C (p.Met437Leu)
c.1051A>C (p.Met351Leu)
c.1210A>C (p.Met404Leu)
15g.38351602A>GCA7470256SPRED1c.1273A>G (p.Met425Val)
c.1309A>G (p.Met437Val)
c.1051A>G (p.Met351Val)
c.1210A>G (p.Met404Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351602A>TCA391934739SPRED1c.1273A>T (p.Met425Leu)
c.1309A>T (p.Met437Leu)
c.1051A>T (p.Met351Leu)
c.1210A>T (p.Met404Leu)
15g.38351602_38351603delCA2803806072SPRED1c.1273_1274del (p.Met425ValfsTer6)
c.1309_1310del (p.Met437ValfsTer6)
c.1051_1052del (p.Met351ValfsTer6)
c.1210_1211del (p.Met404ValfsTer6)
15g.38351603T>ACA391934740SPRED1c.1274T>A (p.Met425Lys)
c.1310T>A (p.Met437Lys)
c.1052T>A (p.Met351Lys)
c.1211T>A (p.Met404Lys)
15g.38351603T>CCA391934741SPRED1c.1274T>C (p.Met425Thr)
c.1310T>C (p.Met437Thr)
c.1052T>C (p.Met351Thr)
c.1211T>C (p.Met404Thr)
gnomAD v4
15g.38351603T>GCA391934742SPRED1c.1274T>G (p.Met425Arg)
c.1310T>G (p.Met437Arg)
c.1052T>G (p.Met351Arg)
c.1211T>G (p.Met404Arg)
15g.38351604G>ACA391934743SPRED1c.1275G>A (p.Met425Ile)
c.1311G>A (p.Met437Ile)
c.1053G>A (p.Met351Ile)
c.1212G>A (p.Met404Ile)
ClinVar
15g.38351604G>CCA391934744SPRED1c.1275G>C (p.Met425Ile)
c.1311G>C (p.Met437Ile)
c.1053G>C (p.Met351Ile)
c.1212G>C (p.Met404Ile)
15g.38351604G>TCA391934745SPRED1c.1275G>T (p.Met425Ile)
c.1311G>T (p.Met437Ile)
c.1053G>T (p.Met351Ile)
c.1212G>T (p.Met404Ile)
15g.38351604_38351605insCACA2803806073SPRED1c.1275_1276insCA (p.Cys426HisfsTer?)
c.1311_1312insCA (p.Cys438HisfsTer?)
c.1053_1054insCA (p.Cys352HisfsTer?)
c.1212_1213insCA (p.Cys405HisfsTer?)
15g.38351605T>ACA391934746SPRED1c.1276T>A (p.Cys426Ser)
c.1312T>A (p.Cys438Ser)
c.1054T>A (p.Cys352Ser)
c.1213T>A (p.Cys405Ser)
15g.38351605T>CCA391934747SPRED1c.1276T>C (p.Cys426Arg)
c.1312T>C (p.Cys438Arg)
c.1054T>C (p.Cys352Arg)
c.1213T>C (p.Cys405Arg)
15g.38351605T>GCA391934748SPRED1c.1276T>G (p.Cys426Gly)
c.1312T>G (p.Cys438Gly)
c.1054T>G (p.Cys352Gly)
c.1213T>G (p.Cys405Gly)
15g.38351606G>ACA391934750SPRED1c.1277G>A (p.Cys426Tyr)
c.1313G>A (p.Cys438Tyr)
c.1055G>A (p.Cys352Tyr)
c.1214G>A (p.Cys405Tyr)
15g.38351606G>CCA391934751SPRED1c.1277G>C (p.Cys426Ser)
c.1313G>C (p.Cys438Ser)
c.1055G>C (p.Cys352Ser)
c.1214G>C (p.Cys405Ser)
15g.38351606G>TCA391934749SPRED1c.1277G>T (p.Cys426Phe)
c.1313G>T (p.Cys438Phe)
c.1055G>T (p.Cys352Phe)
c.1214G>T (p.Cys405Phe)
15g.38351607C>ACA391934752SPRED1c.1278C>A (p.Cys426Ter)
c.1314C>A (p.Cys438Ter)
c.1056C>A (p.Cys352Ter)
c.1215C>A (p.Cys405Ter)
15g.38351607C=CA2170812780SPRED1c.1278C= (p.Cys426=)
c.1314C= (p.Cys438=)
c.1056C= (p.Cys352=)
c.1215C= (p.Cys405=)
15g.38351607C>GCA391934753SPRED1c.1278C>G (p.Cys426Trp)
c.1314C>G (p.Cys438Trp)
c.1056C>G (p.Cys352Trp)
c.1215C>G (p.Cys405Trp)
15g.38351607C>TCA490012639SPRED1c.1278C>T (p.Cys426=)
c.1314C>T (p.Cys438=)
c.1056C>T (p.Cys352=)
c.1215C>T (p.Cys405=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.38351608C>ACA391934754SPRED1c.1279C>A (p.His427Asn)
c.1315C>A (p.His439Asn)
c.1057C>A (p.His353Asn)
c.1216C>A (p.His406Asn)
gnomAD v4
15g.38351608C>GCA391934755SPRED1c.1279C>G (p.His427Asp)
c.1315C>G (p.His439Asp)
c.1057C>G (p.His353Asp)
c.1216C>G (p.His406Asp)
15g.38351608C>TCA391934756SPRED1c.1279C>T (p.His427Tyr)
c.1315C>T (p.His439Tyr)
c.1057C>T (p.His353Tyr)
c.1216C>T (p.His406Tyr)
15g.38351609A=CA2170812781SPRED1c.1280A= (p.His427=)
c.1316A= (p.His439=)
c.1058A= (p.His353=)
c.1217A= (p.His406=)
15g.38351609A>CCA391934759SPRED1c.1280A>C (p.His427Pro)
c.1316A>C (p.His439Pro)
c.1058A>C (p.His353Pro)
c.1217A>C (p.His406Pro)
15g.38351609A>GCA391934757SPRED1c.1280A>G (p.His427Arg)
c.1316A>G (p.His439Arg)
c.1058A>G (p.His353Arg)
c.1217A>G (p.His406Arg)
ClinVar dbSNP
15g.38351609A>TCA391934758SPRED1c.1280A>T (p.His427Leu)
c.1316A>T (p.His439Leu)
c.1058A>T (p.His353Leu)
c.1217A>T (p.His406Leu)
gnomAD v4
15g.38351610T>ACA391934760SPRED1c.1281T>A (p.His427Gln)
c.1317T>A (p.His439Gln)
c.1059T>A (p.His353Gln)
c.1218T>A (p.His406Gln)
15g.38351610T>CCA490012645SPRED1c.1281T>C (p.His427=)
c.1317T>C (p.His439=)
c.1059T>C (p.His353=)
c.1218T>C (p.His406=)
15g.38351610T>GCA391934761SPRED1c.1281T>G (p.His427Gln)
c.1317T>G (p.His439Gln)
c.1059T>G (p.His353Gln)
c.1218T>G (p.His406Gln)
15g.38351610_38351668dupCA1139663833SPRED1c.1281_*4dup (n.1281_*4dup)
c.1317_*4dup (n.1317_*4dup)
c.1059_*4dup (n.1059_*4dup)
c.1218_*4dup (n.1218_*4dup)
ClinVar dbSNP
15g.38351611C>ACA391934762SPRED1c.1282C>A (p.Arg428Ser)
c.1318C>A (p.Arg440Ser)
c.1060C>A (p.Arg354Ser)
c.1219C>A (p.Arg407Ser)
15g.38351611C=CA2170812782SPRED1c.1282C= (p.Arg428=)
c.1318C= (p.Arg440=)
c.1060C= (p.Arg354=)
c.1219C= (p.Arg407=)
15g.38351611C>GCA391934763SPRED1c.1282C>G (p.Arg428Gly)
c.1318C>G (p.Arg440Gly)
c.1060C>G (p.Arg354Gly)
c.1219C>G (p.Arg407Gly)
15g.38351611C>TCA16042992SPRED1c.1282C>T (p.Arg428Cys)
c.1318C>T (p.Arg440Cys)
c.1060C>T (p.Arg354Cys)
c.1219C>T (p.Arg407Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.38351612G>ACA7470257SPRED1c.1283G>A (p.Arg428His)
c.1319G>A (p.Arg440His)
c.1061G>A (p.Arg354His)
c.1220G>A (p.Arg407His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.38351612G>CCA391934765SPRED1c.1283G>C (p.Arg428Pro)
c.1319G>C (p.Arg440Pro)
c.1061G>C (p.Arg354Pro)
c.1220G>C (p.Arg407Pro)
15g.38351612G=CA2170812783SPRED1c.1283G= (p.Arg428=)
c.1319G= (p.Arg440=)
c.1061G= (p.Arg354=)
c.1220G= (p.Arg407=)
15g.38351612G>TCA391934764SPRED1c.1283G>T (p.Arg428Leu)
c.1319G>T (p.Arg440Leu)
c.1061G>T (p.Arg354Leu)
c.1220G>T (p.Arg407Leu)
dbSNP gnomAD v3 gnomAD v4
15g.38351613C>ACA490012649SPRED1c.1284C>A (p.Arg428=)
c.1320C>A (p.Arg440=)
c.1062C>A (p.Arg354=)
c.1221C>A (p.Arg407=)
15g.38351613C>GCA490012650SPRED1c.1284C>G (p.Arg428=)
c.1320C>G (p.Arg440=)
c.1062C>G (p.Arg354=)
c.1221C>G (p.Arg407=)
15g.38351613C>TCA490012651SPRED1c.1284C>T (p.Arg428=)
c.1320C>T (p.Arg440=)
c.1062C>T (p.Arg354=)
c.1221C>T (p.Arg407=)
dbSNP gnomAD v3 gnomAD v4
15g.38351614T>ACA391934766SPRED1c.1285T>A (p.Cys429Ser)
c.1321T>A (p.Cys441Ser)
c.1063T>A (p.Cys355Ser)
c.1222T>A (p.Cys408Ser)
15g.38351614T>CCA391934767SPRED1c.1285T>C (p.Cys429Arg)
c.1321T>C (p.Cys441Arg)
c.1063T>C (p.Cys355Arg)
c.1222T>C (p.Cys408Arg)
ClinVar
15g.38351614T>GCA391934768SPRED1c.1285T>G (p.Cys429Gly)
c.1321T>G (p.Cys441Gly)
c.1063T>G (p.Cys355Gly)
c.1222T>G (p.Cys408Gly)
15g.38351615G>ACA391934769SPRED1c.1286G>A (p.Cys429Tyr)
c.1322G>A (p.Cys441Tyr)
c.1064G>A (p.Cys355Tyr)
c.1223G>A (p.Cys408Tyr)
15g.38351615G>CCA391934770SPRED1c.1286G>C (p.Cys429Ser)
c.1322G>C (p.Cys441Ser)
c.1064G>C (p.Cys355Ser)
c.1223G>C (p.Cys408Ser)
15g.38351615G>TCA391934771SPRED1c.1286G>T (p.Cys429Phe)
c.1322G>T (p.Cys441Phe)
c.1064G>T (p.Cys355Phe)
c.1223G>T (p.Cys408Phe)
15g.38351616T>ACA391934772SPRED1c.1287T>A (p.Cys429Ter)
c.1323T>A (p.Cys441Ter)
c.1065T>A (p.Cys355Ter)
c.1224T>A (p.Cys408Ter)
15g.38351616T>CCA490012656SPRED1c.1287T>C (p.Cys429=)
c.1323T>C (p.Cys441=)
c.1065T>C (p.Cys355=)
c.1224T>C (p.Cys408=)
ClinVar
15g.38351616T>GCA391934773SPRED1c.1287T>G (p.Cys429Trp)
c.1323T>G (p.Cys441Trp)
c.1065T>G (p.Cys355Trp)
c.1224T>G (p.Cys408Trp)
15g.38351618_38351627delCA658761266SPRED1c.1289_1298del (p.Gly430ValfsTer29)
c.1325_1334del (p.Gly442ValfsTer29)
c.1067_1076del (p.Gly356ValfsTer29)
c.1226_1235del (p.Gly409ValfsTer29)
15g.38351617G>ACA391934774SPRED1c.1288G>A (p.Gly430Ser)
c.1324G>A (p.Gly442Ser)
c.1066G>A (p.Gly356Ser)
c.1225G>A (p.Gly409Ser)
15g.38351617G>CCA391934775SPRED1c.1288G>C (p.Gly430Arg)
c.1324G>C (p.Gly442Arg)
c.1066G>C (p.Gly356Arg)
c.1225G>C (p.Gly409Arg)
15g.38351617G>TCA391934776SPRED1c.1288G>T (p.Gly430Cys)
c.1324G>T (p.Gly442Cys)
c.1066G>T (p.Gly356Cys)
c.1225G>T (p.Gly409Cys)
15g.38351618G>ACA391934778SPRED1c.1289G>A (p.Gly430Asp)
c.1325G>A (p.Gly442Asp)
c.1067G>A (p.Gly356Asp)
c.1226G>A (p.Gly409Asp)
15g.38351618G>CCA7470258SPRED1c.1289G>C (p.Gly430Ala)
c.1325G>C (p.Gly442Ala)
c.1067G>C (p.Gly356Ala)
c.1226G>C (p.Gly409Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351618G=CA2170812784SPRED1c.1289G= (p.Gly430=)
c.1325G= (p.Gly442=)
c.1067G= (p.Gly356=)
c.1226G= (p.Gly409=)
15g.38351618G>TCA391934777SPRED1c.1289G>T (p.Gly430Val)
c.1325G>T (p.Gly442Val)
c.1067G>T (p.Gly356Val)
c.1226G>T (p.Gly409Val)
15g.38351619T>ACA490012659SPRED1c.1290T>A (p.Gly430=)
c.1326T>A (p.Gly442=)
c.1068T>A (p.Gly356=)
c.1227T>A (p.Gly409=)
15g.38351619T>CCA490012660SPRED1c.1290T>C (p.Gly430=)
c.1326T>C (p.Gly442=)
c.1068T>C (p.Gly356=)
c.1227T>C (p.Gly409=)
15g.38351619T>GCA490012661SPRED1c.1290T>G (p.Gly430=)
c.1326T>G (p.Gly442=)
c.1068T>G (p.Gly356=)
c.1227T>G (p.Gly409=)
gnomAD v4
15g.38351620G>ACA391934781SPRED1c.1291G>A (p.Glu431Lys)
c.1327G>A (p.Glu443Lys)
c.1069G>A (p.Glu357Lys)
c.1228G>A (p.Glu410Lys)
15g.38351620G>CCA391934779SPRED1c.1291G>C (p.Glu431Gln)
c.1327G>C (p.Glu443Gln)
c.1069G>C (p.Glu357Gln)
c.1228G>C (p.Glu410Gln)
15g.38351620G>TCA391934780SPRED1c.1291G>T (p.Glu431Ter)
c.1327G>T (p.Glu443Ter)
c.1069G>T (p.Glu357Ter)
c.1228G>T (p.Glu410Ter)
15g.38351621A>CCA391934782SPRED1c.1292A>C (p.Glu431Ala)
c.1328A>C (p.Glu443Ala)
c.1070A>C (p.Glu357Ala)
c.1229A>C (p.Glu410Ala)
15g.38351621A>GCA391934783SPRED1c.1292A>G (p.Glu431Gly)
c.1328A>G (p.Glu443Gly)
c.1070A>G (p.Glu357Gly)
c.1229A>G (p.Glu410Gly)
15g.38351621A>TCA391934784SPRED1c.1292A>T (p.Glu431Val)
c.1328A>T (p.Glu443Val)
c.1070A>T (p.Glu357Val)
c.1229A>T (p.Glu410Val)
15g.38351622G>ACA490012664SPRED1c.1293G>A (p.Glu431=)
c.1329G>A (p.Glu443=)
c.1071G>A (p.Glu357=)
c.1230G>A (p.Glu410=)
gnomAD v4
15g.38351622G>CCA391934785SPRED1c.1293G>C (p.Glu431Asp)
c.1329G>C (p.Glu443Asp)
c.1071G>C (p.Glu357Asp)
c.1230G>C (p.Glu410Asp)
15g.38351622G>TCA391934786SPRED1c.1293G>T (p.Glu431Asp)
c.1329G>T (p.Glu443Asp)
c.1071G>T (p.Glu357Asp)
c.1230G>T (p.Glu410Asp)
15g.38351623G>ACA391934787SPRED1c.1294G>A (p.Ala432Thr)
c.1330G>A (p.Ala444Thr)
c.1072G>A (p.Ala358Thr)
c.1231G>A (p.Ala411Thr)
15g.38351623G>CCA391934788SPRED1c.1294G>C (p.Ala432Pro)
c.1330G>C (p.Ala444Pro)
c.1072G>C (p.Ala358Pro)
c.1231G>C (p.Ala411Pro)
15g.38351623G>TCA391934789SPRED1c.1294G>T (p.Ala432Ser)
c.1330G>T (p.Ala444Ser)
c.1072G>T (p.Ala358Ser)
c.1231G>T (p.Ala411Ser)
15g.38351624C>ACA391934790SPRED1c.1295C>A (p.Ala432Glu)
c.1331C>A (p.Ala444Glu)
c.1073C>A (p.Ala358Glu)
c.1232C>A (p.Ala411Glu)
15g.38351624C=CA2170812785SPRED1c.1295C= (p.Ala432=)
c.1331C= (p.Ala444=)
c.1073C= (p.Ala358=)
c.1232C= (p.Ala411=)
15g.38351624C>GCA391934791SPRED1c.1295C>G (p.Ala432Gly)
c.1331C>G (p.Ala444Gly)
c.1073C>G (p.Ala358Gly)
c.1232C>G (p.Ala411Gly)
15g.38351624C>TCA7470259SPRED1c.1295C>T (p.Ala432Val)
c.1331C>T (p.Ala444Val)
c.1073C>T (p.Ala358Val)
c.1232C>T (p.Ala411Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351625A>CCA489922951SPRED1c.1296A>C (p.Ala432=)
c.1332A>C (p.Ala444=)
c.1074A>C (p.Ala358=)
c.1233A>C (p.Ala411=)
15g.38351625A>GCA489922952SPRED1c.1296A>G (p.Ala432=)
c.1332A>G (p.Ala444=)
c.1074A>G (p.Ala358=)
c.1233A>G (p.Ala411=)
ClinVar dbSNP gnomAD v4
15g.38351625A>TCA489922953SPRED1c.1296A>T (p.Ala432=)
c.1332A>T (p.Ala444=)
c.1074A>T (p.Ala358=)
c.1233A>T (p.Ala411=)
15g.38351626T>ACA391934794SPRED1c.1297T>A (p.Cys433Ser)
c.1333T>A (p.Cys445Ser)
c.1075T>A (p.Cys359Ser)
c.1234T>A (p.Cys412Ser)
15g.38351626T>CCA391934792SPRED1c.1297T>C (p.Cys433Arg)
c.1333T>C (p.Cys445Arg)
c.1075T>C (p.Cys359Arg)
c.1234T>C (p.Cys412Arg)
15g.38351626T>GCA391934793SPRED1c.1297T>G (p.Cys433Gly)
c.1333T>G (p.Cys445Gly)
c.1075T>G (p.Cys359Gly)
c.1234T>G (p.Cys412Gly)
15g.38351626_38351629delinsTGTGCA2170812786SPRED1c.1297_1300delinsTGTG (p.Cys433=)
c.1333_1336delinsTGTG (p.Cys445=)
c.1075_1078delinsTGTG (p.Cys359=)
c.1234_1237delinsTGTG (p.Cys412=)
15g.38351627G>ACA7470260SPRED1c.1298G>A (p.Cys433Tyr)
c.1334G>A (p.Cys445Tyr)
c.1076G>A (p.Cys359Tyr)
c.1235G>A (p.Cys412Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.38351627G>CCA391934795SPRED1c.1298G>C (p.Cys433Ser)
c.1334G>C (p.Cys445Ser)
c.1076G>C (p.Cys359Ser)
c.1235G>C (p.Cys412Ser)
15g.38351627G=CA2170812787SPRED1c.1298G= (p.Cys433=)
c.1334G= (p.Cys445=)
c.1076G= (p.Cys359=)
c.1235G= (p.Cys412=)
15g.38351627G>TCA391934796SPRED1c.1298G>T (p.Cys433Phe)
c.1334G>T (p.Cys445Phe)
c.1076G>T (p.Cys359Phe)
c.1235G>T (p.Cys412Phe)
15g.38351629_38351631delCA968818059SPRED1c.1300_1302del (p.Gly434del)
c.1336_1338del (p.Gly446del)
c.1078_1080del (p.Gly360del)
c.1237_1239del (p.Gly413del)
dbSNP gnomAD v3 gnomAD v4
15g.38351628T>ACA391934797SPRED1c.1299T>A (p.Cys433Ter)
c.1335T>A (p.Cys445Ter)
c.1077T>A (p.Cys359Ter)
c.1236T>A (p.Cys412Ter)
15g.38351628T>CCA489922954SPRED1c.1299T>C (p.Cys433=)
c.1335T>C (p.Cys445=)
c.1077T>C (p.Cys359=)
c.1236T>C (p.Cys412=)
ClinVar dbSNP
15g.38351628T>GCA391934798SPRED1c.1299T>G (p.Cys433Trp)
c.1335T>G (p.Cys445Trp)
c.1077T>G (p.Cys359Trp)
c.1236T>G (p.Cys412Trp)

Number of alleles fetched