Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.77935887G>ACA918859NEXNc.1316G>A (p.Arg439Lys)
c.1124G>A (p.Arg375Lys)
c.1015G>A
c.1274G>A (p.Arg425Lys)
n.776G>A
n.890G>A
c.1251+2408G>A (n.1251+2408G>A)
c.1082G>A (p.Arg361Lys)
c.899G>A (p.Arg300Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935887G>CCA340878598NEXNc.1316G>C (p.Arg439Thr)
c.1124G>C (p.Arg375Thr)
c.1015G>C
c.1274G>C (p.Arg425Thr)
n.776G>C
n.890G>C
c.1251+2408G>C (n.1251+2408G>C)
c.1082G>C (p.Arg361Thr)
c.899G>C (p.Arg300Thr)
1g.77935887G=CA1143388511NEXNc.1316G= (p.Arg439=)
c.1124G= (p.Arg375=)
c.1015G=
c.1274G= (p.Arg425=)
n.776G=
n.890G=
c.1251+2408G= (n.1251+2408G=)
c.1082G= (p.Arg361=)
c.899G= (p.Arg300=)
1g.77935887G>TCA340878602NEXNc.1316G>T (p.Arg439Met)
c.1124G>T (p.Arg375Met)
c.1015G>T
c.1274G>T (p.Arg425Met)
n.776G>T
n.890G>T
c.1251+2408G>T (n.1251+2408G>T)
c.1082G>T (p.Arg361Met)
c.899G>T (p.Arg300Met)
 COSMIC COSMIC
1g.77935888G>ACA418709357NEXNc.1317G>A (p.Arg439=)
c.1125G>A (p.Arg375=)
c.1016G>A
c.1275G>A (p.Arg425=)
n.777G>A
n.891G>A
c.1251+2409G>A (n.1251+2409G>A)
c.1083G>A (p.Arg361=)
c.900G>A (p.Arg300=)
 gnomAD v4
1g.77935888G>CCA340878606NEXNc.1317G>C (p.Arg439Ser)
c.1125G>C (p.Arg375Ser)
c.1016G>C
c.1275G>C (p.Arg425Ser)
n.777G>C
n.891G>C
c.1251+2409G>C (n.1251+2409G>C)
c.1083G>C (p.Arg361Ser)
c.900G>C (p.Arg300Ser)
1g.77935888G>TCA340878607NEXNc.1317G>T (p.Arg439Ser)
c.1125G>T (p.Arg375Ser)
c.1016G>T
c.1275G>T (p.Arg425Ser)
n.777G>T
n.891G>T
c.1251+2409G>T (n.1251+2409G>T)
c.1083G>T (p.Arg361Ser)
c.900G>T (p.Arg300Ser)
1g.77935889_77935892dupCA2646274714NEXNc.1318_1321dup (p.Gly441GlufsTer7)
c.1126_1129dup (p.Gly377GlufsTer7)
c.1017_1020dup
c.1276_1279dup (p.Gly427GlufsTer7)
n.778_781dup
n.892_895dup
c.1251+2410_1251+2413dup (n.1251+2410_1251+2413dup)
c.1084_1087dup (p.Gly363GlufsTer7)
c.901_904dup (p.Gly302GlufsTer7)
 gnomAD v4
1g.77935889A>CCA340878610NEXNc.1318A>C (p.Ser440Arg)
c.1126A>C (p.Ser376Arg)
c.1017A>C
c.1276A>C (p.Ser426Arg)
n.778A>C
n.892A>C
c.1251+2410A>C (n.1251+2410A>C)
c.1084A>C (p.Ser362Arg)
c.901A>C (p.Ser301Arg)
1g.77935889A>GCA340878611NEXNc.1318A>G (p.Ser440Gly)
c.1126A>G (p.Ser376Gly)
c.1017A>G
c.1276A>G (p.Ser426Gly)
n.778A>G
n.892A>G
c.1251+2410A>G (n.1251+2410A>G)
c.1084A>G (p.Ser362Gly)
c.901A>G (p.Ser301Gly)
1g.77935889A>TCA340878616NEXNc.1318A>T (p.Ser440Cys)
c.1126A>T (p.Ser376Cys)
c.1017A>T
c.1276A>T (p.Ser426Cys)
n.778A>T
n.892A>T
c.1251+2410A>T (n.1251+2410A>T)
c.1084A>T (p.Ser362Cys)
c.901A>T (p.Ser301Cys)
1g.77935889dupCA2744232141NEXNc.1318dup (p.Ser440LysfsTer7)
c.1126dup (p.Ser376LysfsTer7)
c.1017dup
c.1276dup (p.Ser426LysfsTer7)
n.778dup
n.892dup
c.1251+2410dup (n.1251+2410dup)
c.1084dup (p.Ser362LysfsTer7)
c.901dup (p.Ser301LysfsTer7)
1g.77935890G>ACA918860NEXNc.1319G>A (p.Ser440Asn)
c.1127G>A (p.Ser376Asn)
c.1018G>A
c.1277G>A (p.Ser426Asn)
n.779G>A
n.893G>A
c.1251+2411G>A (n.1251+2411G>A)
c.1085G>A (p.Ser362Asn)
c.902G>A (p.Ser301Asn)
 dbSNP ExAC
1g.77935890G>CCA340878624NEXNc.1319G>C (p.Ser440Thr)
c.1127G>C (p.Ser376Thr)
c.1018G>C
c.1277G>C (p.Ser426Thr)
n.779G>C
n.893G>C
c.1251+2411G>C (n.1251+2411G>C)
c.1085G>C (p.Ser362Thr)
c.902G>C (p.Ser301Thr)
1g.77935890G=CA1177628286NEXNc.1319G= (p.Ser440=)
c.1127G= (p.Ser376=)
c.1018G=
c.1277G= (p.Ser426=)
n.779G=
n.893G=
c.1251+2411G= (n.1251+2411G=)
c.1085G= (p.Ser362=)
c.902G= (p.Ser301=)
1g.77935890G>TCA340878628NEXNc.1319G>T (p.Ser440Ile)
c.1127G>T (p.Ser376Ile)
c.1018G>T
c.1277G>T (p.Ser426Ile)
n.779G>T
n.893G>T
c.1251+2411G>T (n.1251+2411G>T)
c.1085G>T (p.Ser362Ile)
c.902G>T (p.Ser301Ile)
1g.77935891_77935892delCA2580652575NEXNc.1320_1321del (p.Ser440ArgfsTer6)
c.1128_1129del (p.Ser376ArgfsTer6)
c.1019_1020del
c.1278_1279del (p.Ser426ArgfsTer6)
n.780_781del
n.894_895del
c.1251+2412_1251+2413del (n.1251+2412_1251+2413del)
c.1086_1087del (p.Ser362ArgfsTer6)
c.903_904del (p.Ser301ArgfsTer6)
1g.77935891T>ACA340878638NEXNc.1320T>A (p.Ser440Arg)
c.1128T>A (p.Ser376Arg)
c.1019T>A
c.1278T>A (p.Ser426Arg)
n.780T>A
n.894T>A
c.1251+2412T>A (n.1251+2412T>A)
c.1086T>A (p.Ser362Arg)
c.903T>A (p.Ser301Arg)
1g.77935891T>CCA918861NEXNc.1320T>C (p.Ser440=)
c.1128T>C (p.Ser376=)
c.1019T>C
c.1278T>C (p.Ser426=)
n.780T>C
n.894T>C
c.1251+2412T>C (n.1251+2412T>C)
c.1086T>C (p.Ser362=)
c.903T>C (p.Ser301=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935891T>GCA340878637NEXNc.1320T>G (p.Ser440Arg)
c.1128T>G (p.Ser376Arg)
c.1019T>G
c.1278T>G (p.Ser426Arg)
n.780T>G
n.894T>G
c.1251+2412T>G (n.1251+2412T>G)
c.1086T>G (p.Ser362Arg)
c.903T>G (p.Ser301Arg)
1g.77935891T=CA1177628287NEXNc.1320T= (p.Ser440=)
c.1128T= (p.Ser376=)
c.1019T=
c.1278T= (p.Ser426=)
n.780T=
n.894T=
c.1251+2412T= (n.1251+2412T=)
c.1086T= (p.Ser362=)
c.903T= (p.Ser301=)
1g.77935892G>ACA340878639NEXNc.1321G>A (p.Gly441Ser)
c.1129G>A (p.Gly377Ser)
c.1020G>A
c.1279G>A (p.Gly427Ser)
n.781G>A
n.895G>A
c.1251+2413G>A (n.1251+2413G>A)
c.1087G>A (p.Gly363Ser)
c.904G>A (p.Gly302Ser)
1g.77935892G>CCA340878640NEXNc.1321G>C (p.Gly441Arg)
c.1129G>C (p.Gly377Arg)
c.1020G>C
c.1279G>C (p.Gly427Arg)
n.781G>C
n.895G>C
c.1251+2413G>C (n.1251+2413G>C)
c.1087G>C (p.Gly363Arg)
c.904G>C (p.Gly302Arg)
1g.77935892G=CA1177628288NEXNc.1321G= (p.Gly441=)
c.1129G= (p.Gly377=)
c.1020G=
c.1279G= (p.Gly427=)
n.781G=
n.895G=
c.1251+2413G= (n.1251+2413G=)
c.1087G= (p.Gly363=)
c.904G= (p.Gly302=)
1g.77935892G>TCA340878643NEXNc.1321G>T (p.Gly441Cys)
c.1129G>T (p.Gly377Cys)
c.1020G>T
c.1279G>T (p.Gly427Cys)
n.781G>T
n.895G>T
c.1251+2413G>T (n.1251+2413G>T)
c.1087G>T (p.Gly363Cys)
c.904G>T (p.Gly302Cys)
 ClinVar dbSNP
1g.77935892_77935893delCA2580652576NEXNc.1321_1322del (p.Gly441LeufsTer5)
c.1129_1130del (p.Gly377LeufsTer5)
c.1020_1021del
c.1279_1280del (p.Gly427LeufsTer5)
n.781_782del
n.895_896del
c.1251+2413_1251+2414del (n.1251+2413_1251+2414del)
c.1087_1088del (p.Gly363LeufsTer5)
c.904_905del (p.Gly302LeufsTer5)
1g.77935893G>ACA340878653NEXNc.1322G>A (p.Gly441Asp)
c.1130G>A (p.Gly377Asp)
c.1021G>A
c.1280G>A (p.Gly427Asp)
n.782G>A
n.896G>A
c.1251+2414G>A (n.1251+2414G>A)
c.1088G>A (p.Gly363Asp)
c.905G>A (p.Gly302Asp)
 ClinVar dbSNP
1g.77935893G>CCA340878658NEXNc.1322G>C (p.Gly441Ala)
c.1130G>C (p.Gly377Ala)
c.1021G>C
c.1280G>C (p.Gly427Ala)
n.782G>C
n.896G>C
c.1251+2414G>C (n.1251+2414G>C)
c.1088G>C (p.Gly363Ala)
c.905G>C (p.Gly302Ala)
1g.77935893G>TCA340878659NEXNc.1322G>T (p.Gly441Val)
c.1130G>T (p.Gly377Val)
c.1021G>T
c.1280G>T (p.Gly427Val)
n.782G>T
n.896G>T
c.1251+2414G>T (n.1251+2414G>T)
c.1088G>T (p.Gly363Val)
c.905G>T (p.Gly302Val)
1g.77935894C>ACA418709364NEXNc.1323C>A (p.Gly441=)
c.1131C>A (p.Gly377=)
c.1022C>A
c.1281C>A (p.Gly427=)
n.783C>A
n.897C>A
c.1251+2415C>A (n.1251+2415C>A)
c.1089C>A (p.Gly363=)
c.906C>A (p.Gly302=)
1g.77935894C=CA1177628289NEXNc.1323C= (p.Gly441=)
c.1131C= (p.Gly377=)
c.1022C=
c.1281C= (p.Gly427=)
n.783C=
n.897C=
c.1251+2415C= (n.1251+2415C=)
c.1089C= (p.Gly363=)
c.906C= (p.Gly302=)
1g.77935894C>GCA418709365NEXNc.1323C>G (p.Gly441=)
c.1131C>G (p.Gly377=)
c.1022C>G
c.1281C>G (p.Gly427=)
n.783C>G
n.897C>G
c.1251+2415C>G (n.1251+2415C>G)
c.1089C>G (p.Gly363=)
c.906C>G (p.Gly302=)
1g.77935894C>TCA418709366NEXNc.1323C>T (p.Gly441=)
c.1131C>T (p.Gly377=)
c.1022C>T
c.1281C>T (p.Gly427=)
n.783C>T
n.897C>T
c.1251+2415C>T (n.1251+2415C>T)
c.1089C>T (p.Gly363=)
c.906C>T (p.Gly302=)
 dbSNP
1g.77935895T>ACA340878662NEXNc.1324T>A (p.Ser442Thr)
c.1132T>A (p.Ser378Thr)
c.1023T>A
c.1282T>A (p.Ser428Thr)
n.784T>A
n.898T>A
c.1251+2416T>A (n.1251+2416T>A)
c.1090T>A (p.Ser364Thr)
c.907T>A (p.Ser303Thr)
 gnomAD v4
1g.77935895T>CCA340878664NEXNc.1324T>C (p.Ser442Pro)
c.1132T>C (p.Ser378Pro)
c.1023T>C
c.1282T>C (p.Ser428Pro)
n.784T>C
n.898T>C
c.1251+2416T>C (n.1251+2416T>C)
c.1090T>C (p.Ser364Pro)
c.907T>C (p.Ser303Pro)
1g.77935895T>GCA340878672NEXNc.1324T>G (p.Ser442Ala)
c.1132T>G (p.Ser378Ala)
c.1023T>G
c.1282T>G (p.Ser428Ala)
n.784T>G
n.898T>G
c.1251+2416T>G (n.1251+2416T>G)
c.1090T>G (p.Ser364Ala)
c.907T>G (p.Ser303Ala)
1g.77935896C>ACA340878674NEXNc.1325C>A (p.Ser442Tyr)
c.1133C>A (p.Ser378Tyr)
c.1024C>A
c.1283C>A (p.Ser428Tyr)
n.785C>A
n.899C>A
c.1251+2417C>A (n.1251+2417C>A)
c.1091C>A (p.Ser364Tyr)
c.908C>A (p.Ser303Tyr)
 dbSNP
1g.77935896C=CA1177628290NEXNc.1325C= (p.Ser442=)
c.1133C= (p.Ser378=)
c.1024C=
c.1283C= (p.Ser428=)
n.785C=
n.899C=
c.1251+2417C= (n.1251+2417C=)
c.1091C= (p.Ser364=)
c.908C= (p.Ser303=)
1g.77935896C>GCA340878676NEXNc.1325C>G (p.Ser442Cys)
c.1133C>G (p.Ser378Cys)
c.1024C>G
c.1283C>G (p.Ser428Cys)
n.785C>G
n.899C>G
c.1251+2417C>G (n.1251+2417C>G)
c.1091C>G (p.Ser364Cys)
c.908C>G (p.Ser303Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77935896C>TCA340878685NEXNc.1325C>T (p.Ser442Phe)
c.1133C>T (p.Ser378Phe)
c.1024C>T
c.1283C>T (p.Ser428Phe)
n.785C>T
n.899C>T
c.1251+2417C>T (n.1251+2417C>T)
c.1091C>T (p.Ser364Phe)
c.908C>T (p.Ser303Phe)
1g.77935897T>ACA418709368NEXNc.1326T>A (p.Ser442=)
c.1134T>A (p.Ser378=)
c.1025T>A
c.1284T>A (p.Ser428=)
n.786T>A
n.900T>A
c.1251+2418T>A (n.1251+2418T>A)
c.1092T>A (p.Ser364=)
c.909T>A (p.Ser303=)
 dbSNP
1g.77935897T>CCA24686464NEXNc.1326T>C (p.Ser442=)
c.1134T>C (p.Ser378=)
c.1025T>C
c.1284T>C (p.Ser428=)
n.786T>C
n.900T>C
c.1251+2418T>C (n.1251+2418T>C)
c.1092T>C (p.Ser364=)
c.909T>C (p.Ser303=)
 dbSNP gnomAD v4
1g.77935897T>GCA418709370NEXNc.1326T>G (p.Ser442=)
c.1134T>G (p.Ser378=)
c.1025T>G
c.1284T>G (p.Ser428=)
n.786T>G
n.900T>G
c.1251+2418T>G (n.1251+2418T>G)
c.1092T>G (p.Ser364=)
c.909T>G (p.Ser303=)
1g.77935897T=CA1177628291NEXNc.1326T= (p.Ser442=)
c.1134T= (p.Ser378=)
c.1025T=
c.1284T= (p.Ser428=)
n.786T=
n.900T=
c.1251+2418T= (n.1251+2418T=)
c.1092T= (p.Ser364=)
c.909T= (p.Ser303=)
1g.77935898A>CCA340878691NEXNc.1327A>C (p.Ile443Leu)
c.1135A>C (p.Ile379Leu)
c.1026A>C
c.1285A>C (p.Ile429Leu)
n.787A>C
n.901A>C
c.1251+2419A>C (n.1251+2419A>C)
c.1093A>C (p.Ile365Leu)
c.910A>C (p.Ile304Leu)
1g.77935898A>GCA340878696NEXNc.1327A>G (p.Ile443Val)
c.1135A>G (p.Ile379Val)
c.1026A>G
c.1285A>G (p.Ile429Val)
n.787A>G
n.901A>G
c.1251+2419A>G (n.1251+2419A>G)
c.1093A>G (p.Ile365Val)
c.910A>G (p.Ile304Val)
 gnomAD v4
1g.77935898A>TCA340878694NEXNc.1327A>T (p.Ile443Phe)
c.1135A>T (p.Ile379Phe)
c.1026A>T
c.1285A>T (p.Ile429Phe)
n.787A>T
n.901A>T
c.1251+2419A>T (n.1251+2419A>T)
c.1093A>T (p.Ile365Phe)
c.910A>T (p.Ile304Phe)
1g.77935899T>ACA340878699NEXNc.1328T>A (p.Ile443Asn)
c.1136T>A (p.Ile379Asn)
c.1027T>A
c.1286T>A (p.Ile429Asn)
n.788T>A
n.902T>A
c.1251+2420T>A (n.1251+2420T>A)
c.1094T>A (p.Ile365Asn)
c.911T>A (p.Ile304Asn)
 dbSNP gnomAD v3 gnomAD v4
1g.77935899T>CCA340878708NEXNc.1328T>C (p.Ile443Thr)
c.1136T>C (p.Ile379Thr)
c.1027T>C
c.1286T>C (p.Ile429Thr)
n.788T>C
n.902T>C
c.1251+2420T>C (n.1251+2420T>C)
c.1094T>C (p.Ile365Thr)
c.911T>C (p.Ile304Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.77935899T>GCA340878704NEXNc.1328T>G (p.Ile443Ser)
c.1136T>G (p.Ile379Ser)
c.1027T>G
c.1286T>G (p.Ile429Ser)
n.788T>G
n.902T>G
c.1251+2420T>G (n.1251+2420T>G)
c.1094T>G (p.Ile365Ser)
c.911T>G (p.Ile304Ser)
1g.77935899T=CA1177628292NEXNc.1328T= (p.Ile443=)
c.1136T= (p.Ile379=)
c.1027T=
c.1286T= (p.Ile429=)
n.788T=
n.902T=
c.1251+2420T= (n.1251+2420T=)
c.1094T= (p.Ile365=)
c.911T= (p.Ile304=)
1g.77935900T>ACA418709376NEXNc.1329T>A (p.Ile443=)
c.1137T>A (p.Ile379=)
c.1028T>A
c.1287T>A (p.Ile429=)
n.789T>A
n.903T>A
c.1251+2421T>A (n.1251+2421T>A)
c.1095T>A (p.Ile365=)
c.912T>A (p.Ile304=)
1g.77935900T>CCA418709377NEXNc.1329T>C (p.Ile443=)
c.1137T>C (p.Ile379=)
c.1028T>C
c.1287T>C (p.Ile429=)
n.789T>C
n.903T>C
c.1251+2421T>C (n.1251+2421T>C)
c.1095T>C (p.Ile365=)
c.912T>C (p.Ile304=)
1g.77935900T>GCA340878712NEXNc.1329T>G (p.Ile443Met)
c.1137T>G (p.Ile379Met)
c.1028T>G
c.1287T>G (p.Ile429Met)
n.789T>G
n.903T>G
c.1251+2421T>G (n.1251+2421T>G)
c.1095T>G (p.Ile365Met)
c.912T>G (p.Ile304Met)
1g.77935901C>ACA340878721NEXNc.1330C>A (p.Gln444Lys)
c.1138C>A (p.Gln380Lys)
c.1029C>A
c.1288C>A (p.Gln430Lys)
n.790C>A
n.904C>A
c.1251+2422C>A (n.1251+2422C>A)
c.1096C>A (p.Gln366Lys)
c.913C>A (p.Gln305Lys)
1g.77935901C>GCA340878714NEXNc.1330C>G (p.Gln444Glu)
c.1138C>G (p.Gln380Glu)
c.1029C>G
c.1288C>G (p.Gln430Glu)
n.790C>G
n.904C>G
c.1251+2422C>G (n.1251+2422C>G)
c.1096C>G (p.Gln366Glu)
c.913C>G (p.Gln305Glu)
1g.77935901C>TCA340878718NEXNc.1330C>T (p.Gln444Ter)
c.1138C>T (p.Gln380Ter)
c.1029C>T
c.1288C>T (p.Gln430Ter)
n.790C>T
n.904C>T
c.1251+2422C>T (n.1251+2422C>T)
c.1096C>T (p.Gln366Ter)
c.913C>T (p.Gln305Ter)
1g.77935902A>CCA340878723NEXNc.1331A>C (p.Gln444Pro)
c.1139A>C (p.Gln380Pro)
c.1030A>C
c.1289A>C (p.Gln430Pro)
n.791A>C
n.905A>C
c.1251+2423A>C (n.1251+2423A>C)
c.1097A>C (p.Gln366Pro)
c.914A>C (p.Gln305Pro)
1g.77935902A>GCA340878734NEXNc.1331A>G (p.Gln444Arg)
c.1139A>G (p.Gln380Arg)
c.1030A>G
c.1289A>G (p.Gln430Arg)
n.791A>G
n.905A>G
c.1251+2423A>G (n.1251+2423A>G)
c.1097A>G (p.Gln366Arg)
c.914A>G (p.Gln305Arg)
1g.77935902A>TCA340878737NEXNc.1331A>T (p.Gln444Leu)
c.1139A>T (p.Gln380Leu)
c.1030A>T
c.1289A>T (p.Gln430Leu)
n.791A>T
n.905A>T
c.1251+2423A>T (n.1251+2423A>T)
c.1097A>T (p.Gln366Leu)
c.914A>T (p.Gln305Leu)
1g.77935903A=CA1177628293NEXNc.1332A= (p.Gln444=)
c.1140A= (p.Gln380=)
c.1031A=
c.1290A= (p.Gln430=)
n.792A=
n.906A=
c.1251+2424A= (n.1251+2424A=)
c.1098A= (p.Gln366=)
c.915A= (p.Gln305=)
1g.77935903A>CCA340878740NEXNc.1332A>C (p.Gln444His)
c.1140A>C (p.Gln380His)
c.1031A>C
c.1290A>C (p.Gln430His)
n.792A>C
n.906A>C
c.1251+2424A>C (n.1251+2424A>C)
c.1098A>C (p.Gln366His)
c.915A>C (p.Gln305His)
1g.77935903A>GCA418709382NEXNc.1332A>G (p.Gln444=)
c.1140A>G (p.Gln380=)
c.1031A>G
c.1290A>G (p.Gln430=)
n.792A>G
n.906A>G
c.1251+2424A>G (n.1251+2424A>G)
c.1098A>G (p.Gln366=)
c.915A>G (p.Gln305=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77935903A>TCA340878743NEXNc.1332A>T (p.Gln444His)
c.1140A>T (p.Gln380His)
c.1031A>T
c.1290A>T (p.Gln430His)
n.792A>T
n.906A>T
c.1251+2424A>T (n.1251+2424A>T)
c.1098A>T (p.Gln366His)
c.915A>T (p.Gln305His)
1g.77935904G>ACA340878751NEXNc.1333G>A (p.Ala445Thr)
c.1141G>A (p.Ala381Thr)
c.1032G>A
c.1291G>A (p.Ala431Thr)
n.793G>A
n.907G>A
c.1251+2425G>A (n.1251+2425G>A)
c.1099G>A (p.Ala367Thr)
c.916G>A (p.Ala306Thr)
 dbSNP
1g.77935904G>CCA340878752NEXNc.1333G>C (p.Ala445Pro)
c.1141G>C (p.Ala381Pro)
c.1032G>C
c.1291G>C (p.Ala431Pro)
n.793G>C
n.907G>C
c.1251+2425G>C (n.1251+2425G>C)
c.1099G>C (p.Ala367Pro)
c.916G>C (p.Ala306Pro)
1g.77935904G=CA1177628294NEXNc.1333G= (p.Ala445=)
c.1141G= (p.Ala381=)
c.1032G=
c.1291G= (p.Ala431=)
n.793G=
n.907G=
c.1251+2425G= (n.1251+2425G=)
c.1099G= (p.Ala367=)
c.916G= (p.Ala306=)
1g.77935904G>TCA340878754NEXNc.1333G>T (p.Ala445Ser)
c.1141G>T (p.Ala381Ser)
c.1032G>T
c.1291G>T (p.Ala431Ser)
n.793G>T
n.907G>T
c.1251+2425G>T (n.1251+2425G>T)
c.1099G>T (p.Ala367Ser)
c.916G>T (p.Ala306Ser)
1g.77935905C>ACA340878756NEXNc.1334C>A (p.Ala445Asp)
c.1142C>A (p.Ala381Asp)
c.1033C>A
c.1292C>A (p.Ala431Asp)
n.794C>A
n.908C>A
c.1251+2426C>A (n.1251+2426C>A)
c.1100C>A (p.Ala367Asp)
c.917C>A (p.Ala306Asp)
1g.77935905C>GCA340878758NEXNc.1334C>G (p.Ala445Gly)
c.1142C>G (p.Ala381Gly)
c.1033C>G
c.1292C>G (p.Ala431Gly)
n.794C>G
n.908C>G
c.1251+2426C>G (n.1251+2426C>G)
c.1100C>G (p.Ala367Gly)
c.917C>G (p.Ala306Gly)
1g.77935905C>TCA340878760NEXNc.1334C>T (p.Ala445Val)
c.1142C>T (p.Ala381Val)
c.1033C>T
c.1292C>T (p.Ala431Val)
n.794C>T
n.908C>T
c.1251+2426C>T (n.1251+2426C>T)
c.1100C>T (p.Ala367Val)
c.917C>T (p.Ala306Val)
1g.77935906T>ACA418709389NEXNc.1335T>A (p.Ala445=)
c.1143T>A (p.Ala381=)
c.1034T>A
c.1293T>A (p.Ala431=)
n.795T>A
n.909T>A
c.1251+2427T>A (n.1251+2427T>A)
c.1101T>A (p.Ala367=)
c.918T>A (p.Ala306=)
1g.77935906T>CCA418709386NEXNc.1335T>C (p.Ala445=)
c.1143T>C (p.Ala381=)
c.1034T>C
c.1293T>C (p.Ala431=)
n.795T>C
n.909T>C
c.1251+2427T>C (n.1251+2427T>C)
c.1101T>C (p.Ala367=)
c.918T>C (p.Ala306=)
 gnomAD v4
1g.77935906T>GCA418709388NEXNc.1335T>G (p.Ala445=)
c.1143T>G (p.Ala381=)
c.1034T>G
c.1293T>G (p.Ala431=)
n.795T>G
n.909T>G
c.1251+2427T>G (n.1251+2427T>G)
c.1101T>G (p.Ala367=)
c.918T>G (p.Ala306=)
1g.77935907A=CA1177628295NEXNc.1336A= (p.Lys446=)
c.1144A= (p.Lys382=)
c.1035A=
c.1294A= (p.Lys432=)
n.796A=
n.910A=
c.1251+2428A= (n.1251+2428A=)
c.1102A= (p.Lys368=)
c.919A= (p.Lys307=)
1g.77935907A>CCA340878783NEXNc.1336A>C (p.Lys446Gln)
c.1144A>C (p.Lys382Gln)
c.1035A>C
c.1294A>C (p.Lys432Gln)
n.796A>C
n.910A>C
c.1251+2428A>C (n.1251+2428A>C)
c.1102A>C (p.Lys368Gln)
c.919A>C (p.Lys307Gln)
1g.77935907A>GCA340878764NEXNc.1336A>G (p.Lys446Glu)
c.1144A>G (p.Lys382Glu)
c.1035A>G
c.1294A>G (p.Lys432Glu)
n.796A>G
n.910A>G
c.1251+2428A>G (n.1251+2428A>G)
c.1102A>G (p.Lys368Glu)
c.919A>G (p.Lys307Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.77935907A>TCA340878781NEXNc.1336A>T (p.Lys446Ter)
c.1144A>T (p.Lys382Ter)
c.1035A>T
c.1294A>T (p.Lys432Ter)
n.796A>T
n.910A>T
c.1251+2428A>T (n.1251+2428A>T)
c.1102A>T (p.Lys368Ter)
c.919A>T (p.Lys307Ter)
 gnomAD v4
1g.77935908A=CA1177628296NEXNc.1337A= (p.Lys446=)
c.1145A= (p.Lys382=)
c.1036A=
c.1295A= (p.Lys432=)
n.797A=
n.911A=
c.1251+2429A= (n.1251+2429A=)
c.1103A= (p.Lys368=)
c.920A= (p.Lys307=)
1g.77935908A>CCA340878786NEXNc.1337A>C (p.Lys446Thr)
c.1145A>C (p.Lys382Thr)
c.1036A>C
c.1295A>C (p.Lys432Thr)
n.797A>C
n.911A>C
c.1251+2429A>C (n.1251+2429A>C)
c.1103A>C (p.Lys368Thr)
c.920A>C (p.Lys307Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.77935908A>GCA340878787NEXNc.1337A>G (p.Lys446Arg)
c.1145A>G (p.Lys382Arg)
c.1036A>G
c.1295A>G (p.Lys432Arg)
n.797A>G
n.911A>G
c.1251+2429A>G (n.1251+2429A>G)
c.1103A>G (p.Lys368Arg)
c.920A>G (p.Lys307Arg)
1g.77935908A>TCA340878788NEXNc.1337A>T (p.Lys446Ile)
c.1145A>T (p.Lys382Ile)
c.1036A>T
c.1295A>T (p.Lys432Ile)
n.797A>T
n.911A>T
c.1251+2429A>T (n.1251+2429A>T)
c.1103A>T (p.Lys368Ile)
c.920A>T (p.Lys307Ile)
1g.77935909A>CCA340878789NEXNc.1338A>C (p.Lys446Asn)
c.1146A>C (p.Lys382Asn)
c.1037A>C
c.1296A>C (p.Lys432Asn)
n.798A>C
n.912A>C
c.1251+2430A>C (n.1251+2430A>C)
c.1104A>C (p.Lys368Asn)
c.921A>C (p.Lys307Asn)
1g.77935909A>GCA418709393NEXNc.1338A>G (p.Lys446=)
c.1146A>G (p.Lys382=)
c.1037A>G
c.1296A>G (p.Lys432=)
n.798A>G
n.912A>G
c.1251+2430A>G (n.1251+2430A>G)
c.1104A>G (p.Lys368=)
c.921A>G (p.Lys307=)
1g.77935909A>TCA340878790NEXNc.1338A>T (p.Lys446Asn)
c.1146A>T (p.Lys382Asn)
c.1037A>T
c.1296A>T (p.Lys432Asn)
n.798A>T
n.912A>T
c.1251+2430A>T (n.1251+2430A>T)
c.1104A>T (p.Lys368Asn)
c.921A>T (p.Lys307Asn)
1g.77935910A>CCA340878794NEXNc.1339A>C (p.Asn447His)
c.1147A>C (p.Asn383His)
c.1038A>C
c.1297A>C (p.Asn433His)
n.799A>C
n.913A>C
c.1251+2431A>C (n.1251+2431A>C)
c.1105A>C (p.Asn369His)
c.922A>C (p.Asn308His)
1g.77935910A>GCA340878796NEXNc.1339A>G (p.Asn447Asp)
c.1147A>G (p.Asn383Asp)
c.1038A>G
c.1297A>G (p.Asn433Asp)
n.799A>G
n.913A>G
c.1251+2431A>G (n.1251+2431A>G)
c.1105A>G (p.Asn369Asp)
c.922A>G (p.Asn308Asp)
1g.77935910A>TCA340878798NEXNc.1339A>T (p.Asn447Tyr)
c.1147A>T (p.Asn383Tyr)
c.1038A>T
c.1297A>T (p.Asn433Tyr)
n.799A>T
n.913A>T
c.1251+2431A>T (n.1251+2431A>T)
c.1105A>T (p.Asn369Tyr)
c.922A>T (p.Asn308Tyr)
1g.77935911A>CCA340878806NEXNc.1340A>C (p.Asn447Thr)
c.1148A>C (p.Asn383Thr)
c.1039A>C
c.1298A>C (p.Asn433Thr)
n.800A>C
n.914A>C
c.1251+2432A>C (n.1251+2432A>C)
c.1106A>C (p.Asn369Thr)
c.923A>C (p.Asn308Thr)
 gnomAD v4
1g.77935911A>GCA340878809NEXNc.1340A>G (p.Asn447Ser)
c.1148A>G (p.Asn383Ser)
c.1039A>G
c.1298A>G (p.Asn433Ser)
n.800A>G
n.914A>G
c.1251+2432A>G (n.1251+2432A>G)
c.1106A>G (p.Asn369Ser)
c.923A>G (p.Asn308Ser)
1g.77935911A>TCA340878810NEXNc.1340A>T (p.Asn447Ile)
c.1148A>T (p.Asn383Ile)
c.1039A>T
c.1298A>T (p.Asn433Ile)
n.800A>T
n.914A>T
c.1251+2432A>T (n.1251+2432A>T)
c.1106A>T (p.Asn369Ile)
c.923A>T (p.Asn308Ile)
1g.77935912C>ACA340878814NEXNc.1341C>A (p.Asn447Lys)
c.1149C>A (p.Asn383Lys)
c.1040C>A
c.1299C>A (p.Asn433Lys)
n.801C>A
n.915C>A
c.1251+2433C>A (n.1251+2433C>A)
c.1107C>A (p.Asn369Lys)
c.924C>A (p.Asn308Lys)
1g.77935912C=CA1177628297NEXNc.1341C= (p.Asn447=)
c.1149C= (p.Asn383=)
c.1040C=
c.1299C= (p.Asn433=)
n.801C=
n.915C=
c.1251+2433C= (n.1251+2433C=)
c.1107C= (p.Asn369=)
c.924C= (p.Asn308=)
1g.77935912C>GCA340878815NEXNc.1341C>G (p.Asn447Lys)
c.1149C>G (p.Asn383Lys)
c.1040C>G
c.1299C>G (p.Asn433Lys)
n.801C>G
n.915C>G
c.1251+2433C>G (n.1251+2433C>G)
c.1107C>G (p.Asn369Lys)
c.924C>G (p.Asn308Lys)
1g.77935912C>TCA418709398NEXNc.1341C>T (p.Asn447=)
c.1149C>T (p.Asn383=)
c.1040C>T
c.1299C>T (p.Asn433=)
n.801C>T
n.915C>T
c.1251+2433C>T (n.1251+2433C>T)
c.1107C>T (p.Asn369=)
c.924C>T (p.Asn308=)
 dbSNP
1g.77935913C>ACA340878818NEXNc.1342C>A (p.Leu448Ile)
c.1150C>A (p.Leu384Ile)
c.1041C>A
c.1300C>A (p.Leu434Ile)
n.802C>A
n.916C>A
c.1251+2434C>A (n.1251+2434C>A)
c.1108C>A (p.Leu370Ile)
c.925C>A (p.Leu309Ile)
1g.77935913C=CA1177628298NEXNc.1342C= (p.Leu448=)
c.1150C= (p.Leu384=)
c.1041C=
c.1300C= (p.Leu434=)
n.802C=
n.916C=
c.1251+2434C= (n.1251+2434C=)
c.1108C= (p.Leu370=)
c.925C= (p.Leu309=)
1g.77935913C>GCA340878821NEXNc.1342C>G (p.Leu448Val)
c.1150C>G (p.Leu384Val)
c.1041C>G
c.1300C>G (p.Leu434Val)
n.802C>G
n.916C>G
c.1251+2434C>G (n.1251+2434C>G)
c.1108C>G (p.Leu370Val)
c.925C>G (p.Leu309Val)
1g.77935913C>TCA418709400NEXNc.1342C>T (p.Leu448=)
c.1150C>T (p.Leu384=)
c.1041C>T
c.1300C>T (p.Leu434=)
n.802C>T
n.916C>T
c.1251+2434C>T (n.1251+2434C>T)
c.1108C>T (p.Leu370=)
c.925C>T (p.Leu309=)
 ClinVar dbSNP
1g.77935914T>ACA340878822NEXNc.1343T>A (p.Leu448Gln)
c.1151T>A (p.Leu384Gln)
c.1042T>A
c.1301T>A (p.Leu434Gln)
n.803T>A
n.917T>A
c.1251+2435T>A (n.1251+2435T>A)
c.1109T>A (p.Leu370Gln)
c.926T>A (p.Leu309Gln)
1g.77935914T>CCA340878823NEXNc.1343T>C (p.Leu448Pro)
c.1151T>C (p.Leu384Pro)
c.1042T>C
c.1301T>C (p.Leu434Pro)
n.803T>C
n.917T>C
c.1251+2435T>C (n.1251+2435T>C)
c.1109T>C (p.Leu370Pro)
c.926T>C (p.Leu309Pro)
1g.77935914T>GCA340878825NEXNc.1343T>G (p.Leu448Arg)
c.1151T>G (p.Leu384Arg)
c.1042T>G
c.1301T>G (p.Leu434Arg)
n.803T>G
n.917T>G
c.1251+2435T>G (n.1251+2435T>G)
c.1109T>G (p.Leu370Arg)
c.926T>G (p.Leu309Arg)
1g.77935914T=CA1177628299NEXNc.1343T= (p.Leu448=)
c.1151T= (p.Leu384=)
c.1042T=
c.1301T= (p.Leu434=)
n.803T=
n.917T=
c.1251+2435T= (n.1251+2435T=)
c.1109T= (p.Leu370=)
c.926T= (p.Leu309=)
1g.77935915A=CA1177628300NEXNc.1344A= (p.Leu448=)
c.1152A= (p.Leu384=)
c.1043A=
c.1302A= (p.Leu434=)
n.804A=
n.918A=
c.1251+2436A= (n.1251+2436A=)
c.1110A= (p.Leu370=)
c.927A= (p.Leu309=)
1g.77935915A>CCA418709403NEXNc.1344A>C (p.Leu448=)
c.1152A>C (p.Leu384=)
c.1043A>C
c.1302A>C (p.Leu434=)
n.804A>C
n.918A>C
c.1251+2436A>C (n.1251+2436A>C)
c.1110A>C (p.Leu370=)
c.927A>C (p.Leu309=)
1g.77935915A>GCA418709404NEXNc.1344A>G (p.Leu448=)
c.1152A>G (p.Leu384=)
c.1043A>G
c.1302A>G (p.Leu434=)
n.804A>G
n.918A>G
c.1251+2436A>G (n.1251+2436A>G)
c.1110A>G (p.Leu370=)
c.927A>G (p.Leu309=)
 dbSNP
1g.77935915A>TCA418709405NEXNc.1344A>T (p.Leu448=)
c.1152A>T (p.Leu384=)
c.1043A>T
c.1302A>T (p.Leu434=)
n.804A>T
n.918A>T
c.1251+2436A>T (n.1251+2436A>T)
c.1110A>T (p.Leu370=)
c.927A>T (p.Leu309=)
 gnomAD v4
1g.77935919dupCA658795479NEXNc.1348dup (p.Ser450LysfsTer4)
c.1156dup (p.Ser386LysfsTer4)
c.1047dup
n.808dup
n.922dup
c.1306dup (p.Ser436LysfsTer4)
c.1251+2440dup (n.1251+2440dup)
c.1114dup (p.Ser372LysfsTer4)
c.931dup (p.Ser311LysfsTer4)
 ClinVar dbSNP
1g.77935916A>CCA340878827NEXNc.1345A>C (p.Lys449Gln)
c.1153A>C (p.Lys385Gln)
c.1044A>C
c.1303A>C (p.Lys435Gln)
n.805A>C
n.919A>C
c.1251+2437A>C (n.1251+2437A>C)
c.1111A>C (p.Lys371Gln)
c.928A>C (p.Lys310Gln)
1g.77935916A>GCA340878831NEXNc.1345A>G (p.Lys449Glu)
c.1153A>G (p.Lys385Glu)
c.1044A>G
c.1303A>G (p.Lys435Glu)
n.805A>G
n.919A>G
c.1251+2437A>G (n.1251+2437A>G)
c.1111A>G (p.Lys371Glu)
c.928A>G (p.Lys310Glu)
1g.77935916A>TCA340878833NEXNc.1345A>T (p.Lys449Ter)
c.1153A>T (p.Lys385Ter)
c.1044A>T
c.1303A>T (p.Lys435Ter)
n.805A>T
n.919A>T
c.1251+2437A>T (n.1251+2437A>T)
c.1111A>T (p.Lys371Ter)
c.928A>T (p.Lys310Ter)
1g.77935917A>CCA340878838NEXNc.1346A>C (p.Lys449Thr)
c.1154A>C (p.Lys385Thr)
c.1045A>C
c.1304A>C (p.Lys435Thr)
n.806A>C
n.920A>C
c.1251+2438A>C (n.1251+2438A>C)
c.1112A>C (p.Lys371Thr)
c.929A>C (p.Lys310Thr)
1g.77935917A>GCA340878841NEXNc.1346A>G (p.Lys449Arg)
c.1154A>G (p.Lys385Arg)
c.1045A>G
c.1304A>G (p.Lys435Arg)
n.806A>G
n.920A>G
c.1251+2438A>G (n.1251+2438A>G)
c.1112A>G (p.Lys371Arg)
c.929A>G (p.Lys310Arg)
1g.77935917A>TCA340878843NEXNc.1346A>T (p.Lys449Ile)
c.1154A>T (p.Lys385Ile)
c.1045A>T
c.1304A>T (p.Lys435Ile)
n.806A>T
n.920A>T
c.1251+2438A>T (n.1251+2438A>T)
c.1112A>T (p.Lys371Ile)
c.929A>T (p.Lys310Ile)
1g.77935917_77935921delinsAAAGCCA1177628301NEXNc.1346_1350delinsAAAGC (p.Lys449=)
c.1154_1158delinsAAAGC (p.Lys385=)
c.1045_1049delinsAAAGC
n.806_810delinsAAAGC
n.920_924delinsAAAGC
c.1304_1308delinsAAAGC (p.Lys435=)
c.1251+2438_1251+2442delinsAAAGC (n.1251+2438_1251+2442delinsAAAGC)
c.1112_1116delinsAAAGC (p.Lys371=)
c.929_933delinsAAAGC (p.Lys310=)
1g.77935918A>CCA340878845NEXNc.1347A>C (p.Lys449Asn)
c.1155A>C (p.Lys385Asn)
c.1046A>C
c.1305A>C (p.Lys435Asn)
n.807A>C
n.921A>C
c.1251+2439A>C (n.1251+2439A>C)
c.1113A>C (p.Lys371Asn)
c.930A>C (p.Lys310Asn)
1g.77935918A>GCA418709407NEXNc.1347A>G (p.Lys449=)
c.1155A>G (p.Lys385=)
c.1046A>G
c.1305A>G (p.Lys435=)
n.807A>G
n.921A>G
c.1251+2439A>G (n.1251+2439A>G)
c.1113A>G (p.Lys371=)
c.930A>G (p.Lys310=)
1g.77935918A>TCA340878846NEXNc.1347A>T (p.Lys449Asn)
c.1155A>T (p.Lys385Asn)
c.1046A>T
c.1305A>T (p.Lys435Asn)
n.807A>T
n.921A>T
c.1251+2439A>T (n.1251+2439A>T)
c.1113A>T (p.Lys371Asn)
c.930A>T (p.Lys310Asn)
1g.77935921_77935924delCA918862NEXNc.1350_1353del (p.Lys451LeufsTer16)
c.1158_1161del (p.Lys387LeufsTer16)
c.1049_1052del
n.810_813del
n.924_927del
c.1308_1311del (p.Lys437LeufsTer16)
c.1251+2442_1251+2445del (n.1251+2442_1251+2445del)
c.1116_1119del (p.Lys373LeufsTer16)
c.933_936del (p.Lys312LeufsTer16)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77935919A=CA1177628302NEXNc.1348A= (p.Ser450=)
c.1156A= (p.Ser386=)
c.1047A=
c.1306A=
n.808A=
n.922A=
c.1306A= (p.Ser436=)
c.1251+2440A= (n.1251+2440A=)
c.1114A= (p.Ser372=)
c.931A= (p.Ser311=)
1g.77935919A>CCA340878858NEXNc.1348A>C (p.Ser450Arg)
c.1156A>C (p.Ser386Arg)
c.1047A>C
c.1306A>C
n.808A>C
n.922A>C
c.1306A>C (p.Ser436Arg)
c.1251+2440A>C (n.1251+2440A>C)
c.1114A>C (p.Ser372Arg)
c.931A>C (p.Ser311Arg)
1g.77935919A>GCA340878859NEXNc.1348A>G (p.Ser450Gly)
c.1156A>G (p.Ser386Gly)
c.1047A>G
c.1306A>G
n.808A>G
n.922A>G
c.1306A>G (p.Ser436Gly)
c.1251+2440A>G (n.1251+2440A>G)
c.1114A>G (p.Ser372Gly)
c.931A>G (p.Ser311Gly)
 dbSNP
1g.77935919A>TCA340878852NEXNc.1348A>T (p.Ser450Cys)
c.1156A>T (p.Ser386Cys)
c.1047A>T
c.1306A>T
n.808A>T
n.922A>T
c.1306A>T (p.Ser436Cys)
c.1251+2440A>T (n.1251+2440A>T)
c.1114A>T (p.Ser372Cys)
c.931A>T (p.Ser311Cys)
1g.77935920G>ACA340878862NEXNc.1349G>A (p.Ser450Asn)
c.1157G>A (p.Ser386Asn)
c.1048G>A
n.809G>A
n.923G>A
c.1307G>A (p.Ser436Asn)
c.1251+2441G>A (n.1251+2441G>A)
c.1115G>A (p.Ser372Asn)
c.932G>A (p.Ser311Asn)
1g.77935920G>CCA340878864NEXNc.1349G>C (p.Ser450Thr)
c.1157G>C (p.Ser386Thr)
c.1048G>C
n.809G>C
n.923G>C
c.1307G>C (p.Ser436Thr)
c.1251+2441G>C (n.1251+2441G>C)
c.1115G>C (p.Ser372Thr)
c.932G>C (p.Ser311Thr)
1g.77935920G>TCA340878867NEXNc.1349G>T (p.Ser450Ile)
c.1157G>T (p.Ser386Ile)
c.1048G>T
n.809G>T
n.923G>T
c.1307G>T (p.Ser436Ile)
c.1251+2441G>T (n.1251+2441G>T)
c.1115G>T (p.Ser372Ile)
c.932G>T (p.Ser311Ile)
1g.77935921C>ACA340878870NEXNc.1350C>A (p.Ser450Arg)
c.1158C>A (p.Ser386Arg)
c.1049C>A
n.810C>A
n.924C>A
c.1308C>A (p.Ser436Arg)
c.1251+2442C>A (n.1251+2442C>A)
c.1116C>A (p.Ser372Arg)
c.933C>A (p.Ser311Arg)
1g.77935921C>GCA340878872NEXNc.1350C>G (p.Ser450Arg)
c.1158C>G (p.Ser386Arg)
c.1049C>G
n.810C>G
n.924C>G
c.1308C>G (p.Ser436Arg)
c.1251+2442C>G (n.1251+2442C>G)
c.1116C>G (p.Ser372Arg)
c.933C>G (p.Ser311Arg)
1g.77935921C>TCA418709411NEXNc.1350C>T (p.Ser450=)
c.1158C>T (p.Ser386=)
c.1049C>T
n.810C>T
n.924C>T
c.1308C>T (p.Ser436=)
c.1251+2442C>T (n.1251+2442C>T)
c.1116C>T (p.Ser372=)
c.933C>T (p.Ser311=)
1g.77935922A>CCA340878883NEXNc.1351A>C (p.Lys451Gln)
c.1159A>C (p.Lys387Gln)
c.1050A>C
n.811A>C
n.925A>C
c.1309A>C (p.Lys437Gln)
c.1251+2443A>C (n.1251+2443A>C)
c.1117A>C (p.Lys373Gln)
c.934A>C (p.Lys312Gln)
1g.77935922A>GCA340878879NEXNc.1351A>G (p.Lys451Glu)
c.1159A>G (p.Lys387Glu)
c.1050A>G
n.811A>G
n.925A>G
c.1309A>G (p.Lys437Glu)
c.1251+2443A>G (n.1251+2443A>G)
c.1117A>G (p.Lys373Glu)
c.934A>G (p.Lys312Glu)
1g.77935922A>TCA340878882NEXNc.1351A>T (p.Lys451Ter)
c.1159A>T (p.Lys387Ter)
c.1050A>T
n.811A>T
n.925A>T
c.1309A>T (p.Lys437Ter)
c.1251+2443A>T (n.1251+2443A>T)
c.1117A>T (p.Lys373Ter)
c.934A>T (p.Lys312Ter)
1g.77935923A>CCA340878889NEXNc.1352A>C (p.Lys451Thr)
c.1160A>C (p.Lys387Thr)
c.1051A>C
n.812A>C
n.926A>C
c.1310A>C (p.Lys437Thr)
c.1251+2444A>C (n.1251+2444A>C)
c.1118A>C (p.Lys373Thr)
c.935A>C (p.Lys312Thr)
1g.77935923A>GCA340878890NEXNc.1352A>G (p.Lys451Arg)
c.1160A>G (p.Lys387Arg)
c.1051A>G
n.812A>G
n.926A>G
c.1310A>G (p.Lys437Arg)
c.1251+2444A>G (n.1251+2444A>G)
c.1118A>G (p.Lys373Arg)
c.935A>G (p.Lys312Arg)
1g.77935923A>TCA340878891NEXNc.1352A>T (p.Lys451Met)
c.1160A>T (p.Lys387Met)
c.1051A>T
n.812A>T
n.926A>T
c.1310A>T (p.Lys437Met)
c.1251+2444A>T (n.1251+2444A>T)
c.1118A>T (p.Lys373Met)
c.935A>T (p.Lys312Met)
1g.77935924G>ACA418709414NEXNc.1353G>A (p.Lys451=)
c.1161G>A (p.Lys387=)
c.1052G>A
n.813G>A
n.927G>A
c.1311G>A (p.Lys437=)
c.1251+2445G>A (n.1251+2445G>A)
c.1119G>A (p.Lys373=)
c.936G>A (p.Lys312=)
 dbSNP gnomAD v4
1g.77935924G>CCA340878893NEXNc.1353G>C (p.Lys451Asn)
c.1161G>C (p.Lys387Asn)
c.1052G>C
n.813G>C
n.927G>C
c.1311G>C (p.Lys437Asn)
c.1251+2445G>C (n.1251+2445G>C)
c.1119G>C (p.Lys373Asn)
c.936G>C (p.Lys312Asn)
1g.77935924G=CA1177628303NEXNc.1353G= (p.Lys451=)
c.1161G= (p.Lys387=)
c.1052G=
n.813G=
n.927G=
c.1311G= (p.Lys437=)
c.1251+2445G= (n.1251+2445G=)
c.1119G= (p.Lys373=)
c.936G= (p.Lys312=)
1g.77935924G>TCA340878900NEXNc.1353G>T (p.Lys451Asn)
c.1161G>T (p.Lys387Asn)
c.1052G>T
n.813G>T
n.927G>T
c.1311G>T (p.Lys437Asn)
c.1251+2445G>T (n.1251+2445G>T)
c.1119G>T (p.Lys373Asn)
c.936G>T (p.Lys312Asn)
1g.77935925T>ACA340878919NEXNc.1354T>A (p.Phe452Ile)
c.1162T>A (p.Phe388Ile)
c.1053T>A
n.814T>A
n.928T>A
c.1312T>A (p.Phe438Ile)
c.1251+2446T>A (n.1251+2446T>A)
c.1120T>A (p.Phe374Ile)
c.937T>A (p.Phe313Ile)
1g.77935925T>CCA340878904NEXNc.1354T>C (p.Phe452Leu)
c.1162T>C (p.Phe388Leu)
c.1053T>C
n.814T>C
n.928T>C
c.1312T>C (p.Phe438Leu)
c.1251+2446T>C (n.1251+2446T>C)
c.1120T>C (p.Phe374Leu)
c.937T>C (p.Phe313Leu)
1g.77935925T>GCA340878917NEXNc.1354T>G (p.Phe452Val)
c.1162T>G (p.Phe388Val)
c.1053T>G
n.814T>G
n.928T>G
c.1312T>G (p.Phe438Val)
c.1251+2446T>G (n.1251+2446T>G)
c.1120T>G (p.Phe374Val)
c.937T>G (p.Phe313Val)
 gnomAD v4
1g.77935926T>ACA340878921NEXNc.1355T>A (p.Phe452Tyr)
c.1163T>A (p.Phe388Tyr)
c.1054T>A
n.815T>A
n.929T>A
c.1313T>A (p.Phe438Tyr)
c.1251+2447T>A (n.1251+2447T>A)
c.1121T>A (p.Phe374Tyr)
c.938T>A (p.Phe313Tyr)
1g.77935926T>CCA918863NEXNc.1355T>C (p.Phe452Ser)
c.1163T>C (p.Phe388Ser)
c.1054T>C
n.815T>C
n.929T>C
c.1313T>C (p.Phe438Ser)
c.1251+2447T>C (n.1251+2447T>C)
c.1121T>C (p.Phe374Ser)
c.938T>C (p.Phe313Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77935926T>GCA340878924NEXNc.1355T>G (p.Phe452Cys)
c.1163T>G (p.Phe388Cys)
c.1054T>G
n.815T>G
n.929T>G
c.1313T>G (p.Phe438Cys)
c.1251+2447T>G (n.1251+2447T>G)
c.1121T>G (p.Phe374Cys)
c.938T>G (p.Phe313Cys)
1g.77935926T=CA1177628304NEXNc.1355T= (p.Phe452=)
c.1163T= (p.Phe388=)
c.1054T=
n.815T=
n.929T=
c.1313T= (p.Phe438=)
c.1251+2447T= (n.1251+2447T=)
c.1121T= (p.Phe374=)
c.938T= (p.Phe313=)
1g.77935927T>ACA340878927NEXNc.1356T>A (p.Phe452Leu)
c.1164T>A (p.Phe388Leu)
c.1055T>A
n.816T>A
n.930T>A
c.1314T>A (p.Phe438Leu)
c.1251+2448T>A (n.1251+2448T>A)
c.1122T>A (p.Phe374Leu)
c.939T>A (p.Phe313Leu)
1g.77935927T>CCA918864NEXNc.1356T>C (p.Phe452=)
c.1164T>C (p.Phe388=)
c.1055T>C
n.816T>C
n.930T>C
c.1314T>C (p.Phe438=)
c.1251+2448T>C (n.1251+2448T>C)
c.1122T>C (p.Phe374=)
c.939T>C (p.Phe313=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77935927T>GCA340878929NEXNc.1356T>G (p.Phe452Leu)
c.1164T>G (p.Phe388Leu)
c.1055T>G
n.816T>G
n.930T>G
c.1314T>G (p.Phe438Leu)
c.1251+2448T>G (n.1251+2448T>G)
c.1122T>G (p.Phe374Leu)
c.939T>G (p.Phe313Leu)
1g.77935927T=CA1177628305NEXNc.1356T= (p.Phe452=)
c.1164T= (p.Phe388=)
c.1055T=
n.816T=
n.930T=
c.1314T= (p.Phe438=)
c.1251+2448T= (n.1251+2448T=)
c.1122T= (p.Phe374=)
c.939T= (p.Phe313=)
1g.77935928G>ACA340878943NEXNc.1357G>A (p.Glu453Lys)
c.1165G>A (p.Glu389Lys)
c.1056G>A
n.817G>A
n.931G>A
c.1315G>A (p.Glu439Lys)
c.1251+2449G>A (n.1251+2449G>A)
c.1123G>A (p.Glu375Lys)
c.940G>A (p.Glu314Lys)
 COSMIC COSMIC
1g.77935928G>CCA340878936NEXNc.1357G>C (p.Glu453Gln)
c.1165G>C (p.Glu389Gln)
c.1056G>C
n.817G>C
n.931G>C
c.1315G>C (p.Glu439Gln)
c.1251+2449G>C (n.1251+2449G>C)
c.1123G>C (p.Glu375Gln)
c.940G>C (p.Glu314Gln)
1g.77935928G=CA1177628306NEXNc.1357G= (p.Glu453=)
c.1165G= (p.Glu389=)
c.1056G=
n.817G=
n.931G=
c.1315G= (p.Glu439=)
c.1251+2449G= (n.1251+2449G=)
c.1123G= (p.Glu375=)
c.940G= (p.Glu314=)
1g.77935928G>TCA340878939NEXNc.1357G>T (p.Glu453Ter)
c.1165G>T (p.Glu389Ter)
c.1056G>T
n.817G>T
n.931G>T
c.1315G>T (p.Glu439Ter)
c.1251+2449G>T (n.1251+2449G>T)
c.1123G>T (p.Glu375Ter)
c.940G>T (p.Glu314Ter)
1g.77935929A>CCA340878955NEXNc.1358A>C (p.Glu453Ala)
c.1166A>C (p.Glu389Ala)
c.1057A>C
n.818A>C
n.932A>C
c.1316A>C (p.Glu439Ala)
c.1251+2450A>C (n.1251+2450A>C)
c.1124A>C (p.Glu375Ala)
c.941A>C (p.Glu314Ala)
1g.77935929A>GCA340878972NEXNc.1358A>G (p.Glu453Gly)
c.1166A>G (p.Glu389Gly)
c.1057A>G
n.818A>G
n.932A>G
c.1316A>G (p.Glu439Gly)
c.1251+2450A>G (n.1251+2450A>G)
c.1124A>G (p.Glu375Gly)
c.941A>G (p.Glu314Gly)
1g.77935929A>TCA340878975NEXNc.1358A>T (p.Glu453Val)
c.1166A>T (p.Glu389Val)
c.1057A>T
n.818A>T
n.932A>T
c.1316A>T (p.Glu439Val)
c.1251+2450A>T (n.1251+2450A>T)
c.1124A>T (p.Glu375Val)
c.941A>T (p.Glu314Val)
1g.77935934dupCA524231038NEXNc.1363dup (p.Ile455AsnfsTer6)
c.1171dup (p.Ile391AsnfsTer6)
c.1062dup
n.823dup
n.937dup
c.1321dup (p.Ile441AsnfsTer6)
c.1251+2455dup (n.1251+2455dup)
c.1129dup (p.Ile377AsnfsTer6)
c.946dup (p.Ile316AsnfsTer6)
 dbSNP gnomAD v2 gnomAD v4
1g.77935934delCA418709420NEXNc.1363del (p.Ile455LeufsTer13)
c.1171del (p.Ile391LeufsTer13)
c.1062del
n.823del
n.937del
c.1321del (p.Ile441LeufsTer13)
c.1251+2455del (n.1251+2455del)
c.1129del (p.Ile377LeufsTer13)
c.946del (p.Ile316LeufsTer13)
 COSMIC
1g.77935930A>CCA340878977NEXNc.1359A>C (p.Glu453Asp)
c.1167A>C (p.Glu389Asp)
c.1058A>C
n.819A>C
n.933A>C
c.1317A>C (p.Glu439Asp)
c.1251+2451A>C (n.1251+2451A>C)
c.1125A>C (p.Glu375Asp)
c.942A>C (p.Glu314Asp)
1g.77935930A>GCA418709423NEXNc.1359A>G (p.Glu453=)
c.1167A>G (p.Glu389=)
c.1058A>G
n.819A>G
n.933A>G
c.1317A>G (p.Glu439=)
c.1251+2451A>G (n.1251+2451A>G)
c.1125A>G (p.Glu375=)
c.942A>G (p.Glu314=)
1g.77935930A>TCA340878980NEXNc.1359A>T (p.Glu453Asp)
c.1167A>T (p.Glu389Asp)
c.1058A>T
n.819A>T
n.933A>T
c.1317A>T (p.Glu439Asp)
c.1251+2451A>T (n.1251+2451A>T)
c.1125A>T (p.Glu375Asp)
c.942A>T (p.Glu314Asp)
1g.77935931A=CA1177628307NEXNc.1360A= (p.Lys454=)
c.1168A= (p.Lys390=)
c.1059A=
n.820A=
n.934A=
c.1318A= (p.Lys440=)
c.1251+2452A= (n.1251+2452A=)
c.1126A= (p.Lys376=)
c.943A= (p.Lys315=)
1g.77935931A>CCA340878990NEXNc.1360A>C (p.Lys454Gln)
c.1168A>C (p.Lys390Gln)
c.1059A>C
n.820A>C
n.934A>C
c.1318A>C (p.Lys440Gln)
c.1251+2452A>C (n.1251+2452A>C)
c.1126A>C (p.Lys376Gln)
c.943A>C (p.Lys315Gln)
 COSMIC
1g.77935931A>GCA340878982NEXNc.1360A>G (p.Lys454Glu)
c.1168A>G (p.Lys390Glu)
c.1059A>G
n.820A>G
n.934A>G
c.1318A>G (p.Lys440Glu)
c.1251+2452A>G (n.1251+2452A>G)
c.1126A>G (p.Lys376Glu)
c.943A>G (p.Lys315Glu)
 dbSNP gnomAD v4
1g.77935931A>TCA340878984NEXNc.1360A>T (p.Lys454Ter)
c.1168A>T (p.Lys390Ter)
c.1059A>T
n.820A>T
n.934A>T
c.1318A>T (p.Lys440Ter)
c.1251+2452A>T (n.1251+2452A>T)
c.1126A>T (p.Lys376Ter)
c.943A>T (p.Lys315Ter)
1g.77935932A>CCA340878993NEXNc.1361A>C (p.Lys454Thr)
c.1169A>C (p.Lys390Thr)
c.1060A>C
n.821A>C
n.935A>C
c.1319A>C (p.Lys440Thr)
c.1251+2453A>C (n.1251+2453A>C)
c.1127A>C (p.Lys376Thr)
c.944A>C (p.Lys315Thr)
1g.77935932A>GCA340878996NEXNc.1361A>G (p.Lys454Arg)
c.1169A>G (p.Lys390Arg)
c.1060A>G
n.821A>G
n.935A>G
c.1319A>G (p.Lys440Arg)
c.1251+2453A>G (n.1251+2453A>G)
c.1127A>G (p.Lys376Arg)
c.944A>G (p.Lys315Arg)
1g.77935932A>TCA340878998NEXNc.1361A>T (p.Lys454Ile)
c.1169A>T (p.Lys390Ile)
c.1060A>T
n.821A>T
n.935A>T
c.1319A>T (p.Lys440Ile)
c.1251+2453A>T (n.1251+2453A>T)
c.1127A>T (p.Lys376Ile)
c.944A>T (p.Lys315Ile)
1g.77935933A>CCA340879000NEXNc.1362A>C (p.Lys454Asn)
c.1170A>C (p.Lys390Asn)
c.1061A>C
n.822A>C
n.936A>C
c.1320A>C (p.Lys440Asn)
c.1251+2454A>C (n.1251+2454A>C)
c.1128A>C (p.Lys376Asn)
c.945A>C (p.Lys315Asn)
1g.77935933A>GCA418709425NEXNc.1362A>G (p.Lys454=)
c.1170A>G (p.Lys390=)
c.1061A>G
n.822A>G
n.936A>G
c.1320A>G (p.Lys440=)
c.1251+2454A>G (n.1251+2454A>G)
c.1128A>G (p.Lys376=)
c.945A>G (p.Lys315=)
1g.77935933A>TCA340879013NEXNc.1362A>T (p.Lys454Asn)
c.1170A>T (p.Lys390Asn)
c.1061A>T
n.822A>T
n.936A>T
c.1320A>T (p.Lys440Asn)
c.1251+2454A>T (n.1251+2454A>T)
c.1128A>T (p.Lys376Asn)
c.945A>T (p.Lys315Asn)
1g.77935934A=CA1177628308NEXNc.1363A= (p.Ile455=)
c.1171A= (p.Ile391=)
c.1062A=
n.823A=
n.937A=
c.1321A= (p.Ile441=)
c.1251+2455A= (n.1251+2455A=)
c.1129A= (p.Ile377=)
c.946A= (p.Ile316=)
1g.77935934A>CCA340879016NEXNc.1363A>C (p.Ile455Leu)
c.1171A>C (p.Ile391Leu)
c.1062A>C
n.823A>C
n.937A>C
c.1321A>C (p.Ile441Leu)
c.1251+2455A>C (n.1251+2455A>C)
c.1129A>C (p.Ile377Leu)
c.946A>C (p.Ile316Leu)
1g.77935934A>GCA340879017NEXNc.1363A>G (p.Ile455Val)
c.1171A>G (p.Ile391Val)
c.1062A>G
n.823A>G
n.937A>G
c.1321A>G (p.Ile441Val)
c.1251+2455A>G (n.1251+2455A>G)
c.1129A>G (p.Ile377Val)
c.946A>G (p.Ile316Val)
 dbSNP
1g.77935934A>TCA340879018NEXNc.1363A>T (p.Ile455Phe)
c.1171A>T (p.Ile391Phe)
c.1062A>T
n.823A>T
n.937A>T
c.1321A>T (p.Ile441Phe)
c.1251+2455A>T (n.1251+2455A>T)
c.1129A>T (p.Ile377Phe)
c.946A>T (p.Ile316Phe)
1g.77935935T>ACA340879019NEXNc.1364T>A (p.Ile455Asn)
c.1172T>A (p.Ile391Asn)
c.1063T>A
n.824T>A
n.938T>A
c.1322T>A (p.Ile441Asn)
c.1251+2456T>A (n.1251+2456T>A)
c.1130T>A (p.Ile377Asn)
c.947T>A (p.Ile316Asn)
1g.77935935T>CCA340879020NEXNc.1364T>C (p.Ile455Thr)
c.1172T>C (p.Ile391Thr)
c.1063T>C
n.824T>C
n.938T>C
c.1322T>C (p.Ile441Thr)
c.1251+2456T>C (n.1251+2456T>C)
c.1130T>C (p.Ile377Thr)
c.947T>C (p.Ile316Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77935935T>GCA340879021NEXNc.1364T>G (p.Ile455Ser)
c.1172T>G (p.Ile391Ser)
c.1063T>G
n.824T>G
n.938T>G
c.1322T>G (p.Ile441Ser)
c.1251+2456T>G (n.1251+2456T>G)
c.1130T>G (p.Ile377Ser)
c.947T>G (p.Ile316Ser)
 gnomAD v4
1g.77935935T=CA1177628309NEXNc.1364T= (p.Ile455=)
c.1172T= (p.Ile391=)
c.1063T=
n.824T=
n.938T=
c.1322T= (p.Ile441=)
c.1251+2456T= (n.1251+2456T=)
c.1130T= (p.Ile377=)
c.947T= (p.Ile316=)
1g.77935936T>ACA418709426NEXNc.1365T>A (p.Ile455=)
c.1173T>A (p.Ile391=)
c.1064T>A
n.825T>A
n.939T>A
c.1323T>A (p.Ile441=)
c.1251+2457T>A (n.1251+2457T>A)
c.1131T>A (p.Ile377=)
c.948T>A (p.Ile316=)
1g.77935936T>CCA418709427NEXNc.1365T>C (p.Ile455=)
c.1173T>C (p.Ile391=)
c.1064T>C
n.825T>C
n.939T>C
c.1323T>C (p.Ile441=)
c.1251+2457T>C (n.1251+2457T>C)
c.1131T>C (p.Ile377=)
c.948T>C (p.Ile316=)
 gnomAD v4
1g.77935936T>GCA340879023NEXNc.1365T>G (p.Ile455Met)
c.1173T>G (p.Ile391Met)
c.1064T>G
n.825T>G
n.939T>G
c.1323T>G (p.Ile441Met)
c.1251+2457T>G (n.1251+2457T>G)
c.1131T>G (p.Ile377Met)
c.948T>G (p.Ile316Met)
1g.77935937G>ACA142107NEXNc.1366G>A (p.Gly456Arg)
c.1174G>A (p.Gly392Arg)
c.1065G>A
n.826G>A
n.940G>A
c.1324G>A (p.Gly442Arg)
c.1251+2458G>A (n.1251+2458G>A)
c.1132G>A (p.Gly378Arg)
c.949G>A (p.Gly317Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935937G>CCA340879026NEXNc.1366G>C (p.Gly456Arg)
c.1174G>C (p.Gly392Arg)
c.1065G>C
n.826G>C
n.940G>C
c.1324G>C (p.Gly442Arg)
c.1251+2458G>C (n.1251+2458G>C)
c.1132G>C (p.Gly378Arg)
c.949G>C (p.Gly317Arg)
1g.77935937G=CA1144228872NEXNc.1366G= (p.Gly456=)
c.1174G= (p.Gly392=)
c.1065G=
n.826G=
n.940G=
c.1324G= (p.Gly442=)
c.1251+2458G= (n.1251+2458G=)
c.1132G= (p.Gly378=)
c.949G= (p.Gly317=)
1g.77935937G>TCA340879028NEXNc.1366G>T (p.Gly456Ter)
c.1174G>T (p.Gly392Ter)
c.1065G>T
n.826G>T
n.940G>T
c.1324G>T (p.Gly442Ter)
c.1251+2458G>T (n.1251+2458G>T)
c.1132G>T (p.Gly378Ter)
c.949G>T (p.Gly317Ter)
1g.77935938G>ACA340879031NEXNc.1367G>A (p.Gly456Glu)
c.1175G>A (p.Gly392Glu)
c.1066G>A
n.827G>A
n.941G>A
c.1325G>A (p.Gly442Glu)
c.1251+2459G>A (n.1251+2459G>A)
c.1133G>A (p.Gly378Glu)
c.950G>A (p.Gly317Glu)
 COSMIC COSMIC
1g.77935938G>CCA340879032NEXNc.1367G>C (p.Gly456Ala)
c.1175G>C (p.Gly392Ala)
c.1066G>C
n.827G>C
n.941G>C
c.1325G>C (p.Gly442Ala)
c.1251+2459G>C (n.1251+2459G>C)
c.1133G>C (p.Gly378Ala)
c.950G>C (p.Gly317Ala)
1g.77935938G>TCA340879038NEXNc.1367G>T (p.Gly456Val)
c.1175G>T (p.Gly392Val)
c.1066G>T
n.827G>T
n.941G>T
c.1325G>T (p.Gly442Val)
c.1251+2459G>T (n.1251+2459G>T)
c.1133G>T (p.Gly378Val)
c.950G>T (p.Gly317Val)
1g.77935939A=CA1144228873NEXNc.1368A= (p.Gly456=)
c.1176A= (p.Gly392=)
c.1067A=
n.828A=
n.942A=
c.1326A= (p.Gly442=)
c.1251+2460A= (n.1251+2460A=)
c.1134A= (p.Gly378=)
c.951A= (p.Gly317=)
1g.77935939A>CCA142110NEXNc.1368A>C (p.Gly456=)
c.1176A>C (p.Gly392=)
c.1067A>C
n.828A>C
n.942A>C
c.1326A>C (p.Gly442=)
c.1251+2460A>C (n.1251+2460A>C)
c.1134A>C (p.Gly378=)
c.951A>C (p.Gly317=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935939A>GCA418709428NEXNc.1368A>G (p.Gly456=)
c.1176A>G (p.Gly392=)
c.1067A>G
n.828A>G
n.942A>G
c.1326A>G (p.Gly442=)
c.1251+2460A>G (n.1251+2460A>G)
c.1134A>G (p.Gly378=)
c.951A>G (p.Gly317=)
 ClinVar dbSNP
1g.77935939A>TCA418709430NEXNc.1368A>T (p.Gly456=)
c.1176A>T (p.Gly392=)
c.1067A>T
n.828A>T
n.942A>T
c.1326A>T (p.Gly442=)
c.1251+2460A>T (n.1251+2460A>T)
c.1134A>T (p.Gly378=)
c.951A>T (p.Gly317=)
1g.77935940_77935941delCA2744232142NEXNc.1369_1370del (p.Gln457ValfsTer3)
c.1177_1178del (p.Gln393ValfsTer3)
c.1068_1069del
n.829_830del
n.943_944del
c.1327_1328del (p.Gln443ValfsTer3)
c.1251+2461_1251+2462del (n.1251+2461_1251+2462del)
c.1135_1136del (p.Gln379ValfsTer3)
c.952_953del (p.Gln318ValfsTer3)
1g.77935940C>ACA340879043NEXNc.1369C>A (p.Gln457Lys)
c.1177C>A (p.Gln393Lys)
c.1068C>A
n.829C>A
n.943C>A
c.1327C>A (p.Gln443Lys)
c.1251+2461C>A (n.1251+2461C>A)
c.1135C>A (p.Gln379Lys)
c.952C>A (p.Gln318Lys)
1g.77935940C>GCA340879048NEXNc.1369C>G (p.Gln457Glu)
c.1177C>G (p.Gln393Glu)
c.1068C>G
n.829C>G
n.943C>G
c.1327C>G (p.Gln443Glu)
c.1251+2461C>G (n.1251+2461C>G)
c.1135C>G (p.Gln379Glu)
c.952C>G (p.Gln318Glu)
 gnomAD v4
1g.77935940C>TCA340879050NEXNc.1369C>T (p.Gln457Ter)
c.1177C>T (p.Gln393Ter)
c.1068C>T
n.829C>T
n.943C>T
c.1327C>T (p.Gln443Ter)
c.1251+2461C>T (n.1251+2461C>T)
c.1135C>T (p.Gln379Ter)
c.952C>T (p.Gln318Ter)
1g.77935940dupCA1003482936NEXNc.1369dup (p.Gln457ProfsTer4)
c.1177dup (p.Gln393ProfsTer4)
c.1068dup
n.829dup
n.943dup
c.1327dup (p.Gln443ProfsTer4)
c.1251+2461dup (n.1251+2461dup)
c.1135dup (p.Gln379ProfsTer4)
c.952dup (p.Gln318ProfsTer4)
 dbSNP gnomAD v3 gnomAD v4
1g.77935941A>CCA340879052NEXNc.1370A>C (p.Gln457Pro)
c.1178A>C (p.Gln393Pro)
c.1069A>C
n.830A>C
n.944A>C
c.1328A>C (p.Gln443Pro)
c.1251+2462A>C (n.1251+2462A>C)
c.1136A>C (p.Gln379Pro)
c.953A>C (p.Gln318Pro)
1g.77935941A>GCA340879058NEXNc.1370A>G (p.Gln457Arg)
c.1178A>G (p.Gln393Arg)
c.1069A>G
n.830A>G
n.944A>G
c.1328A>G (p.Gln443Arg)
c.1251+2462A>G (n.1251+2462A>G)
c.1136A>G (p.Gln379Arg)
c.953A>G (p.Gln318Arg)
1g.77935941A>TCA340879056NEXNc.1370A>T (p.Gln457Leu)
c.1178A>T (p.Gln393Leu)
c.1069A>T
n.830A>T
n.944A>T
c.1328A>T (p.Gln443Leu)
c.1251+2462A>T (n.1251+2462A>T)
c.1136A>T (p.Gln379Leu)
c.953A>T (p.Gln318Leu)
1g.77935942G>ACA418709431NEXNc.1371G>A (p.Gln457=)
c.1179G>A (p.Gln393=)
c.1070G>A
n.831G>A
n.945G>A
c.1329G>A (p.Gln443=)
c.1251+2463G>A (n.1251+2463G>A)
c.1137G>A (p.Gln379=)
c.954G>A (p.Gln318=)
 dbSNP
1g.77935942G>CCA340879068NEXNc.1371G>C (p.Gln457His)
c.1179G>C (p.Gln393His)
c.1070G>C
n.831G>C
n.945G>C
c.1329G>C (p.Gln443His)
c.1251+2463G>C (n.1251+2463G>C)
c.1137G>C (p.Gln379His)
c.954G>C (p.Gln318His)
1g.77935942G>TCA340879072NEXNc.1371G>T (p.Gln457His)
c.1179G>T (p.Gln393His)
c.1070G>T
n.831G>T
n.945G>T
c.1329G>T (p.Gln443His)
c.1251+2463G>T (n.1251+2463G>T)
c.1137G>T (p.Gln379His)
c.954G>T (p.Gln318His)
1g.77935943T>ACA340879074NEXNc.1372T>A (p.Leu458Met)
c.1180T>A (p.Leu394Met)
c.1071T>A
n.832T>A
n.946T>A
c.1330T>A (p.Leu444Met)
c.1251+2464T>A (n.1251+2464T>A)
c.1138T>A (p.Leu380Met)
c.955T>A (p.Leu319Met)
 gnomAD v4
1g.77935943T>CCA418709433NEXNc.1372T>C (p.Leu458=)
c.1180T>C (p.Leu394=)
c.1071T>C
n.832T>C
n.946T>C
c.1330T>C (p.Leu444=)
c.1251+2464T>C (n.1251+2464T>C)
c.1138T>C (p.Leu380=)
c.955T>C (p.Leu319=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.77935943T>GCA340879077NEXNc.1372T>G (p.Leu458Val)
c.1180T>G (p.Leu394Val)
c.1071T>G
n.832T>G
n.946T>G
c.1330T>G (p.Leu444Val)
c.1251+2464T>G (n.1251+2464T>G)
c.1138T>G (p.Leu380Val)
c.955T>G (p.Leu319Val)
1g.77935943T=CA1177628310NEXNc.1372T= (p.Leu458=)
c.1180T= (p.Leu394=)
c.1071T=
n.832T=
n.946T=
c.1330T= (p.Leu444=)
c.1251+2464T= (n.1251+2464T=)
c.1138T= (p.Leu380=)
c.955T= (p.Leu319=)
1g.77935944T>ACA340879079NEXNc.1373T>A (p.Leu458Ter)
c.1181T>A (p.Leu394Ter)
c.1072T>A
n.833T>A
n.947T>A
c.1331T>A (p.Leu444Ter)
c.1251+2465T>A (n.1251+2465T>A)
c.1139T>A (p.Leu380Ter)
c.956T>A (p.Leu319Ter)
1g.77935944T>CCA340879090NEXNc.1373T>C (p.Leu458Ser)
c.1181T>C (p.Leu394Ser)
c.1072T>C
n.833T>C
n.947T>C
c.1331T>C (p.Leu444Ser)
c.1251+2465T>C (n.1251+2465T>C)
c.1139T>C (p.Leu380Ser)
c.956T>C (p.Leu319Ser)
1g.77935944T>GCA340879087NEXNc.1373T>G (p.Leu458Trp)
c.1181T>G (p.Leu394Trp)
c.1072T>G
n.833T>G
n.947T>G
c.1331T>G (p.Leu444Trp)
c.1251+2465T>G (n.1251+2465T>G)
c.1139T>G (p.Leu380Trp)
c.956T>G (p.Leu319Trp)
1g.77935945G>ACA418709434NEXNc.1374G>A (p.Leu458=)
c.1182G>A (p.Leu394=)
c.1073G>A
n.834G>A
n.948G>A
c.1332G>A (p.Leu444=)
c.1251+2466G>A (n.1251+2466G>A)
c.1140G>A (p.Leu380=)
c.957G>A (p.Leu319=)
1g.77935945G>CCA340879092NEXNc.1374G>C (p.Leu458Phe)
c.1182G>C (p.Leu394Phe)
c.1073G>C
n.834G>C
n.948G>C
c.1332G>C (p.Leu444Phe)
c.1251+2466G>C (n.1251+2466G>C)
c.1140G>C (p.Leu380Phe)
c.957G>C (p.Leu319Phe)
1g.77935945G=CA1177628311NEXNc.1374G= (p.Leu458=)
c.1182G= (p.Leu394=)
c.1073G=
n.834G=
n.948G=
c.1332G= (p.Leu444=)
c.1251+2466G= (n.1251+2466G=)
c.1140G= (p.Leu380=)
c.957G= (p.Leu319=)
1g.77935945G>TCA24686520NEXNc.1374G>T (p.Leu458Phe)
c.1182G>T (p.Leu394Phe)
c.1073G>T
n.834G>T
n.948G>T
c.1332G>T (p.Leu444Phe)
c.1251+2466G>T (n.1251+2466G>T)
c.1140G>T (p.Leu380Phe)
c.957G>T (p.Leu319Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77935946T>ACA340879098NEXNc.1375T>A (p.Ser459Thr)
c.1183T>A (p.Ser395Thr)
c.1074T>A
n.835T>A
n.949T>A
c.1333T>A (p.Ser445Thr)
c.1251+2467T>A (n.1251+2467T>A)
c.1141T>A (p.Ser381Thr)
c.958T>A (p.Ser320Thr)
1g.77935946T>CCA918865NEXNc.1375T>C (p.Ser459Pro)
c.1183T>C (p.Ser395Pro)
c.1074T>C
n.835T>C
n.949T>C
c.1333T>C (p.Ser445Pro)
c.1251+2467T>C (n.1251+2467T>C)
c.1141T>C (p.Ser381Pro)
c.958T>C (p.Ser320Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77935946T>GCA340879101NEXNc.1375T>G (p.Ser459Ala)
c.1183T>G (p.Ser395Ala)
c.1074T>G
n.835T>G
n.949T>G
c.1333T>G (p.Ser445Ala)
c.1251+2467T>G (n.1251+2467T>G)
c.1141T>G (p.Ser381Ala)
c.958T>G (p.Ser320Ala)
1g.77935946T=CA1177628312NEXNc.1375T= (p.Ser459=)
c.1183T= (p.Ser395=)
c.1074T=
n.835T=
n.949T=
c.1333T= (p.Ser445=)
c.1251+2467T= (n.1251+2467T=)
c.1141T= (p.Ser381=)
c.958T= (p.Ser320=)
1g.77935947C>ACA340879104NEXNc.1376C>A (p.Ser459Tyr)
c.1184C>A (p.Ser395Tyr)
c.1075C>A
n.836C>A
n.950C>A
c.1334C>A (p.Ser445Tyr)
c.1251+2468C>A (n.1251+2468C>A)
c.1142C>A (p.Ser381Tyr)
c.959C>A (p.Ser320Tyr)
1g.77935947C>GCA340879109NEXNc.1376C>G (p.Ser459Cys)
c.1184C>G (p.Ser395Cys)
c.1075C>G
n.836C>G
n.950C>G
c.1334C>G (p.Ser445Cys)
c.1251+2468C>G (n.1251+2468C>G)
c.1142C>G (p.Ser381Cys)
c.959C>G (p.Ser320Cys)
 COSMIC
1g.77935947C>TCA340879119NEXNc.1376C>T (p.Ser459Phe)
c.1184C>T (p.Ser395Phe)
c.1075C>T
n.836C>T
n.950C>T
c.1334C>T (p.Ser445Phe)
c.1251+2468C>T (n.1251+2468C>T)
c.1142C>T (p.Ser381Phe)
c.959C>T (p.Ser320Phe)
 gnomAD v4
1g.77935948T>ACA418709435NEXNc.1377T>A (p.Ser459=)
c.1185T>A (p.Ser395=)
c.1076T>A
n.837T>A
n.951T>A
c.1335T>A (p.Ser445=)
c.1251+2469T>A (n.1251+2469T>A)
c.1143T>A (p.Ser381=)
c.960T>A (p.Ser320=)
 ClinVar dbSNP gnomAD v4
1g.77935948T>CCA418709436NEXNc.1377T>C (p.Ser459=)
c.1185T>C (p.Ser395=)
c.1076T>C
n.837T>C
n.951T>C
c.1335T>C (p.Ser445=)
c.1251+2469T>C (n.1251+2469T>C)
c.1143T>C (p.Ser381=)
c.960T>C (p.Ser320=)
 dbSNP
1g.77935948T>GCA418709437NEXNc.1377T>G (p.Ser459=)
c.1185T>G (p.Ser395=)
c.1076T>G
n.837T>G
n.951T>G
c.1335T>G (p.Ser445=)
c.1251+2469T>G (n.1251+2469T>G)
c.1143T>G (p.Ser381=)
c.960T>G (p.Ser320=)
1g.77935949G>ACA340879124NEXNc.1378G>A (p.Glu460Lys)
c.1186G>A (p.Glu396Lys)
c.1077G>A
n.838G>A
n.952G>A
c.1336G>A (p.Glu446Lys)
c.1251+2470G>A (n.1251+2470G>A)
c.1144G>A (p.Glu382Lys)
c.961G>A (p.Glu321Lys)
1g.77935949G>CCA340879126NEXNc.1378G>C (p.Glu460Gln)
c.1186G>C (p.Glu396Gln)
c.1077G>C
n.838G>C
n.952G>C
c.1336G>C (p.Glu446Gln)
c.1251+2470G>C (n.1251+2470G>C)
c.1144G>C (p.Glu382Gln)
c.961G>C (p.Glu321Gln)
1g.77935949G>TCA340879127NEXNc.1378G>T (p.Glu460Ter)
c.1186G>T (p.Glu396Ter)
c.1077G>T
n.838G>T
n.952G>T
c.1336G>T (p.Glu446Ter)
c.1251+2470G>T (n.1251+2470G>T)
c.1144G>T (p.Glu382Ter)
c.961G>T (p.Glu321Ter)
1g.77935950A>CCA340879130NEXNc.1379A>C (p.Glu460Ala)
c.1187A>C (p.Glu396Ala)
c.1078A>C
n.839A>C
n.953A>C
c.1337A>C (p.Glu446Ala)
c.1251+2471A>C (n.1251+2471A>C)
c.1145A>C (p.Glu382Ala)
c.962A>C (p.Glu321Ala)
1g.77935950A>GCA340879134NEXNc.1379A>G (p.Glu460Gly)
c.1187A>G (p.Glu396Gly)
c.1078A>G
n.839A>G
n.953A>G
c.1337A>G (p.Glu446Gly)
c.1251+2471A>G (n.1251+2471A>G)
c.1145A>G (p.Glu382Gly)
c.962A>G (p.Glu321Gly)
1g.77935950A>TCA340879133NEXNc.1379A>T (p.Glu460Val)
c.1187A>T (p.Glu396Val)
c.1078A>T
n.839A>T
n.953A>T
c.1337A>T (p.Glu446Val)
c.1251+2471A>T (n.1251+2471A>T)
c.1145A>T (p.Glu382Val)
c.962A>T (p.Glu321Val)
1g.77935954delCA645529041NEXNc.1383del (p.Glu462LysfsTer6)
c.1191del (p.Glu398LysfsTer6)
c.1082del
n.843del
n.957del
c.1341del (p.Glu448LysfsTer6)
c.1251+2475del (n.1251+2475del)
c.1149del (p.Glu384LysfsTer6)
c.966del (p.Glu323LysfsTer6)
 COSMIC COSMIC
1g.77935951A>CCA340879137NEXNc.1380A>C (p.Glu460Asp)
c.1188A>C (p.Glu396Asp)
c.1079A>C
n.840A>C
n.954A>C
c.1338A>C (p.Glu446Asp)
c.1251+2472A>C (n.1251+2472A>C)
c.1146A>C (p.Glu382Asp)
c.963A>C (p.Glu321Asp)
1g.77935951A>GCA418709438NEXNc.1380A>G (p.Glu460=)
c.1188A>G (p.Glu396=)
c.1079A>G
n.840A>G
n.954A>G
c.1338A>G (p.Glu446=)
c.1251+2472A>G (n.1251+2472A>G)
c.1146A>G (p.Glu382=)
c.963A>G (p.Glu321=)
1g.77935951A>TCA340879139NEXNc.1380A>T (p.Glu460Asp)
c.1188A>T (p.Glu396Asp)
c.1079A>T
n.840A>T
n.954A>T
c.1338A>T (p.Glu446Asp)
c.1251+2472A>T (n.1251+2472A>T)
c.1146A>T (p.Glu382Asp)
c.963A>T (p.Glu321Asp)
1g.77935952A>CCA340879145NEXNc.1381A>C (p.Lys461Gln)
c.1189A>C (p.Lys397Gln)
c.1080A>C
n.841A>C
n.955A>C
c.1339A>C (p.Lys447Gln)
c.1251+2473A>C (n.1251+2473A>C)
c.1147A>C (p.Lys383Gln)
c.964A>C (p.Lys322Gln)
1g.77935952A>GCA340879149NEXNc.1381A>G (p.Lys461Glu)
c.1189A>G (p.Lys397Glu)
c.1080A>G
n.841A>G
n.955A>G
c.1339A>G (p.Lys447Glu)
c.1251+2473A>G (n.1251+2473A>G)
c.1147A>G (p.Lys383Glu)
c.964A>G (p.Lys322Glu)
1g.77935952A>TCA340879148NEXNc.1381A>T (p.Lys461Ter)
c.1189A>T (p.Lys397Ter)
c.1080A>T
n.841A>T
n.955A>T
c.1339A>T (p.Lys447Ter)
c.1251+2473A>T (n.1251+2473A>T)
c.1147A>T (p.Lys383Ter)
c.964A>T (p.Lys322Ter)
1g.77935955_77935958delCA2573051621NEXNc.1384_1387del (p.Glu462TyrfsTer5)
c.1192_1195del (p.Glu398TyrfsTer5)
c.1083_1086del
n.844_847del
n.958_961del
c.1342_1345del (p.Glu448TyrfsTer5)
c.1251+2476_1251+2479del (n.1251+2476_1251+2479del)
c.1150_1153del (p.Glu384TyrfsTer5)
c.967_970del (p.Glu323TyrfsTer5)
 ClinVar dbSNP gnomAD v4
1g.77935953A=CA1177628313NEXNc.1382A= (p.Lys461=)
c.1190A= (p.Lys397=)
c.1081A=
n.842A=
n.956A=
c.1340A= (p.Lys447=)
c.1251+2474A= (n.1251+2474A=)
c.1148A= (p.Lys383=)
c.965A= (p.Lys322=)
1g.77935953A>CCA340879151NEXNc.1382A>C (p.Lys461Thr)
c.1190A>C (p.Lys397Thr)
c.1081A>C
n.842A>C
n.956A>C
c.1340A>C (p.Lys447Thr)
c.1251+2474A>C (n.1251+2474A>C)
c.1148A>C (p.Lys383Thr)
c.965A>C (p.Lys322Thr)
1g.77935953A>GCA340879153NEXNc.1382A>G (p.Lys461Arg)
c.1190A>G (p.Lys397Arg)
c.1081A>G
n.842A>G
n.956A>G
c.1340A>G (p.Lys447Arg)
c.1251+2474A>G (n.1251+2474A>G)
c.1148A>G (p.Lys383Arg)
c.965A>G (p.Lys322Arg)
1g.77935953A>TCA340879154NEXNc.1382A>T (p.Lys461Ile)
c.1190A>T (p.Lys397Ile)
c.1081A>T
n.842A>T
n.956A>T
c.1340A>T (p.Lys447Ile)
c.1251+2474A>T (n.1251+2474A>T)
c.1148A>T (p.Lys383Ile)
c.965A>T (p.Lys322Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.77935954A>CCA340879156NEXNc.1383A>C (p.Lys461Asn)
c.1191A>C (p.Lys397Asn)
c.1082A>C
n.843A>C
n.957A>C
c.1341A>C (p.Lys447Asn)
c.1251+2475A>C (n.1251+2475A>C)
c.1149A>C (p.Lys383Asn)
c.966A>C (p.Lys322Asn)
1g.77935954A>GCA418709439NEXNc.1383A>G (p.Lys461=)
c.1191A>G (p.Lys397=)
c.1082A>G
n.843A>G
n.957A>G
c.1341A>G (p.Lys447=)
c.1251+2475A>G (n.1251+2475A>G)
c.1149A>G (p.Lys383=)
c.966A>G (p.Lys322=)
 ClinVar
1g.77935954A>TCA340879158NEXNc.1383A>T (p.Lys461Asn)
c.1191A>T (p.Lys397Asn)
c.1082A>T
n.843A>T
n.957A>T
c.1341A>T (p.Lys447Asn)
c.1251+2475A>T (n.1251+2475A>T)
c.1149A>T (p.Lys383Asn)
c.966A>T (p.Lys322Asn)
1g.77935955G>ACA24686551NEXNc.1384G>A (p.Glu462Lys)
c.1192G>A (p.Glu398Lys)
c.1083G>A
n.844G>A
n.958G>A
c.1342G>A (p.Glu448Lys)
c.1251+2476G>A (n.1251+2476G>A)
c.1150G>A (p.Glu384Lys)
c.967G>A (p.Glu323Lys)
 dbSNP
1g.77935955G>CCA340879166NEXNc.1384G>C (p.Glu462Gln)
c.1192G>C (p.Glu398Gln)
c.1083G>C
n.844G>C
n.958G>C
c.1342G>C (p.Glu448Gln)
c.1251+2476G>C (n.1251+2476G>C)
c.1150G>C (p.Glu384Gln)
c.967G>C (p.Glu323Gln)
1g.77935955G=CA1177628315NEXNc.1384G= (p.Glu462=)
c.1192G= (p.Glu398=)
c.1083G=
n.844G=
n.958G=
c.1342G= (p.Glu448=)
c.1251+2476G= (n.1251+2476G=)
c.1150G= (p.Glu384=)
c.967G= (p.Glu323=)
1g.77935955G>TCA340879168NEXNc.1384G>T (p.Glu462Ter)
c.1192G>T (p.Glu398Ter)
c.1083G>T
n.844G>T
n.958G>T
c.1342G>T (p.Glu448Ter)
c.1251+2476G>T (n.1251+2476G>T)
c.1150G>T (p.Glu384Ter)
c.967G>T (p.Glu323Ter)
1g.77935955_77935956delinsGACA1177628314NEXNc.1384_1385delinsGA (p.Glu462=)
c.1192_1193delinsGA (p.Glu398=)
c.1083_1084delinsGA
n.844_845delinsGA
n.958_959delinsGA
c.1342_1343delinsGA (p.Glu448=)
c.1251+2476_1251+2477delinsGA (n.1251+2476_1251+2477delinsGA)
c.1150_1151delinsGA (p.Glu384=)
c.967_968delinsGA (p.Glu323=)
1g.77935956A=CA1177628316NEXNc.1385A= (p.Glu462=)
c.1193A= (p.Glu398=)
c.1084A=
n.845A=
n.959A=
c.1343A= (p.Glu448=)
c.1251+2477A= (n.1251+2477A=)
c.1151A= (p.Glu384=)
c.968A= (p.Glu323=)
1g.77935956A>CCA340879170NEXNc.1385A>C (p.Glu462Ala)
c.1193A>C (p.Glu398Ala)
c.1084A>C
n.845A>C
n.959A>C
c.1343A>C (p.Glu448Ala)
c.1251+2477A>C (n.1251+2477A>C)
c.1151A>C (p.Glu384Ala)
c.968A>C (p.Glu323Ala)
1g.77935956A>GCA340879172NEXNc.1385A>G (p.Glu462Gly)
c.1193A>G (p.Glu398Gly)
c.1084A>G
n.845A>G
n.959A>G
c.1343A>G (p.Glu448Gly)
c.1251+2477A>G (n.1251+2477A>G)
c.1151A>G (p.Glu384Gly)
c.968A>G (p.Glu323Gly)
1g.77935956A>TCA918867NEXNc.1385A>T (p.Glu462Val)
c.1193A>T (p.Glu398Val)
c.1084A>T
n.845A>T
n.959A>T
c.1343A>T (p.Glu448Val)
c.1251+2477A>T (n.1251+2477A>T)
c.1151A>T (p.Glu384Val)
c.968A>T (p.Glu323Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77935958delCA918866NEXNc.1387del (p.Ile463TyrfsTer5)
c.1195del (p.Ile399TyrfsTer5)
c.1086del
n.847del
n.961del
c.1345del (p.Ile449TyrfsTer5)
c.1251+2479del (n.1251+2479del)
c.1153del (p.Ile385TyrfsTer5)
c.970del (p.Ile324TyrfsTer5)
 dbSNP ExAC gnomAD v2
1g.77935957_77935958delCA2574414118NEXNc.1386_1387del (p.Glu462AspfsTer16)
c.1194_1195del (p.Glu398AspfsTer16)
c.1085_1086del
n.846_847del
n.960_961del
c.1344_1345del (p.Glu448AspfsTer16)
c.1251+2478_1251+2479del (n.1251+2478_1251+2479del)
c.1152_1153del (p.Glu384AspfsTer16)
c.969_970del (p.Glu323AspfsTer16)
1g.77935957A>CCA340879174NEXNc.1386A>C (p.Glu462Asp)
c.1194A>C (p.Glu398Asp)
c.1085A>C
n.846A>C
n.960A>C
c.1344A>C (p.Glu448Asp)
c.1251+2478A>C (n.1251+2478A>C)
c.1152A>C (p.Glu384Asp)
c.969A>C (p.Glu323Asp)
1g.77935957A>GCA418709440NEXNc.1386A>G (p.Glu462=)
c.1194A>G (p.Glu398=)
c.1085A>G
n.846A>G
n.960A>G
c.1344A>G (p.Glu448=)
c.1251+2478A>G (n.1251+2478A>G)
c.1152A>G (p.Glu384=)
c.969A>G (p.Glu323=)
1g.77935957A>TCA340879176NEXNc.1386A>T (p.Glu462Asp)
c.1194A>T (p.Glu398Asp)
c.1085A>T
n.846A>T
n.960A>T
c.1344A>T (p.Glu448Asp)
c.1251+2478A>T (n.1251+2478A>T)
c.1152A>T (p.Glu384Asp)
c.969A>T (p.Glu323Asp)
1g.77935958A=CA1177628317NEXNc.1387A= (p.Ile463=)
c.1195A= (p.Ile399=)
c.1086A=
n.847A=
n.961A=
c.1345A= (p.Ile449=)
c.1251+2479A= (n.1251+2479A=)
c.1153A= (p.Ile385=)
c.970A= (p.Ile324=)
1g.77935958A>CCA340879178NEXNc.1387A>C (p.Ile463Leu)
c.1195A>C (p.Ile399Leu)
c.1086A>C
n.847A>C
n.961A>C
c.1345A>C (p.Ile449Leu)
c.1251+2479A>C (n.1251+2479A>C)
c.1153A>C (p.Ile385Leu)
c.970A>C (p.Ile324Leu)
1g.77935958A>GCA340879179NEXNc.1387A>G (p.Ile463Val)
c.1195A>G (p.Ile399Val)
c.1086A>G
n.847A>G
n.961A>G
c.1345A>G (p.Ile449Val)
c.1251+2479A>G (n.1251+2479A>G)
c.1153A>G (p.Ile385Val)
c.970A>G (p.Ile324Val)
 dbSNP gnomAD v4
1g.77935958A>TCA340879180NEXNc.1387A>T (p.Ile463Leu)
c.1195A>T (p.Ile399Leu)
c.1086A>T
n.847A>T
n.961A>T
c.1345A>T (p.Ile449Leu)
c.1251+2479A>T (n.1251+2479A>T)
c.1153A>T (p.Ile385Leu)
c.970A>T (p.Ile324Leu)
1g.77935959T>ACA340879182NEXNc.1388T>A (p.Ile463Lys)
c.1196T>A (p.Ile399Lys)
c.1087T>A
n.848T>A
n.962T>A
c.1346T>A (p.Ile449Lys)
c.1251+2480T>A (n.1251+2480T>A)
c.1154T>A (p.Ile385Lys)
c.971T>A (p.Ile324Lys)
1g.77935959T>CCA918868NEXNc.1388T>C (p.Ile463Thr)
c.1196T>C (p.Ile399Thr)
c.1087T>C
n.848T>C
n.962T>C
c.1346T>C (p.Ile449Thr)
c.1251+2480T>C (n.1251+2480T>C)
c.1154T>C (p.Ile385Thr)
c.971T>C (p.Ile324Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935959T>GCA340879183NEXNc.1388T>G (p.Ile463Arg)
c.1196T>G (p.Ile399Arg)
c.1087T>G
n.848T>G
n.962T>G
c.1346T>G (p.Ile449Arg)
c.1251+2480T>G (n.1251+2480T>G)
c.1154T>G (p.Ile385Arg)
c.971T>G (p.Ile324Arg)
1g.77935959T=CA1177628318NEXNc.1388T= (p.Ile463=)
c.1196T= (p.Ile399=)
c.1087T=
n.848T=
n.962T=
c.1346T= (p.Ile449=)
c.1251+2480T= (n.1251+2480T=)
c.1154T= (p.Ile385=)
c.971T= (p.Ile324=)
1g.77935960A>CCA418709441NEXNc.1389A>C (p.Ile463=)
c.1197A>C (p.Ile399=)
c.1088A>C
n.849A>C
n.963A>C
c.1347A>C (p.Ile449=)
c.1251+2481A>C (n.1251+2481A>C)
c.1155A>C (p.Ile385=)
c.972A>C (p.Ile324=)
1g.77935960A>GCA340879184NEXNc.1389A>G (p.Ile463Met)
c.1197A>G (p.Ile399Met)
c.1088A>G
n.849A>G
n.963A>G
c.1347A>G (p.Ile449Met)
c.1251+2481A>G (n.1251+2481A>G)
c.1155A>G (p.Ile385Met)
c.972A>G (p.Ile324Met)
 gnomAD v4
1g.77935960A>TCA418709442NEXNc.1389A>T (p.Ile463=)
c.1197A>T (p.Ile399=)
c.1088A>T
n.849A>T
n.963A>T
c.1347A>T (p.Ile449=)
c.1251+2481A>T (n.1251+2481A>T)
c.1155A>T (p.Ile385=)
c.972A>T (p.Ile324=)
 dbSNP
1g.77935961delCA2646274715NEXNc.1390del (p.Gln464ArgfsTer4)
c.1198del (p.Gln400ArgfsTer4)
c.1089del
n.850del
n.964del
c.1348del (p.Gln450ArgfsTer4)
c.1251+2482del (n.1251+2482del)
c.1156del (p.Gln386ArgfsTer4)
c.973del (p.Gln325ArgfsTer4)
 gnomAD v4
1g.77935961C>ACA340879186NEXNc.1390C>A (p.Gln464Lys)
c.1198C>A (p.Gln400Lys)
c.1089C>A
n.850C>A
n.964C>A
c.1348C>A (p.Gln450Lys)
c.1251+2482C>A (n.1251+2482C>A)
c.1156C>A (p.Gln386Lys)
c.973C>A (p.Gln325Lys)
1g.77935961C>GCA340879188NEXNc.1390C>G (p.Gln464Glu)
c.1198C>G (p.Gln400Glu)
c.1089C>G
n.850C>G
n.964C>G
c.1348C>G (p.Gln450Glu)
c.1251+2482C>G (n.1251+2482C>G)
c.1156C>G (p.Gln386Glu)
c.973C>G (p.Gln325Glu)
1g.77935961C>TCA340879189NEXNc.1390C>T (p.Gln464Ter)
c.1198C>T (p.Gln400Ter)
c.1089C>T
n.850C>T
n.964C>T
c.1348C>T (p.Gln450Ter)
c.1251+2482C>T (n.1251+2482C>T)
c.1156C>T (p.Gln386Ter)
c.973C>T (p.Gln325Ter)
 ClinVar
1g.77935962A>CCA340879197NEXNc.1391A>C (p.Gln464Pro)
c.1199A>C (p.Gln400Pro)
c.1090A>C
n.851A>C
n.965A>C
c.1349A>C (p.Gln450Pro)
c.1251+2483A>C (n.1251+2483A>C)
c.1157A>C (p.Gln386Pro)
c.974A>C (p.Gln325Pro)
1g.77935962A>GCA340879196NEXNc.1391A>G (p.Gln464Arg)
c.1199A>G (p.Gln400Arg)
c.1090A>G
n.851A>G
n.965A>G
c.1349A>G (p.Gln450Arg)
c.1251+2483A>G (n.1251+2483A>G)
c.1157A>G (p.Gln386Arg)
c.974A>G (p.Gln325Arg)
1g.77935962A>TCA340879191NEXNc.1391A>T (p.Gln464Leu)
c.1199A>T (p.Gln400Leu)
c.1090A>T
n.851A>T
n.965A>T
c.1349A>T (p.Gln450Leu)
c.1251+2483A>T (n.1251+2483A>T)
c.1157A>T (p.Gln386Leu)
c.974A>T (p.Gln325Leu)
1g.77935963G>ACA418709443NEXNc.1392G>A (p.Gln464=)
c.1200G>A (p.Gln400=)
c.1091G>A
n.852G>A
n.966G>A
c.1350G>A (p.Gln450=)
c.1251+2484G>A (n.1251+2484G>A)
c.1158G>A (p.Gln386=)
c.975G>A (p.Gln325=)
1g.77935963G>CCA340879199NEXNc.1392G>C (p.Gln464His)
c.1200G>C (p.Gln400His)
c.1091G>C
n.852G>C
n.966G>C
c.1350G>C (p.Gln450His)
c.1251+2484G>C (n.1251+2484G>C)
c.1158G>C (p.Gln386His)
c.975G>C (p.Gln325His)
 gnomAD v4
1g.77935963G>TCA340879200NEXNc.1392G>T (p.Gln464His)
c.1200G>T (p.Gln400His)
c.1091G>T
n.852G>T
n.966G>T
c.1350G>T (p.Gln450His)
c.1251+2484G>T (n.1251+2484G>T)
c.1158G>T (p.Gln386His)
c.975G>T (p.Gln325His)
1g.77935963_77935964delinsGACA1177628319NEXNc.1392_1393delinsGA (p.Gln464=)
c.1200_1201delinsGA (p.Gln400=)
c.1091_1092delinsGA
n.852_853delinsGA
n.966_967delinsGA
c.1350_1351delinsGA (p.Gln450=)
c.1251+2484_1251+2485delinsGA (n.1251+2484_1251+2485delinsGA)
c.1158_1159delinsGA (p.Gln386=)
c.975_976delinsGA (p.Gln325=)
1g.77935964A>CCA340879202NEXNc.1393A>C (p.Lys465Gln)
c.1201A>C (p.Lys401Gln)
c.1092A>C
n.853A>C
n.967A>C
c.1351A>C (p.Lys451Gln)
c.1251+2485A>C (n.1251+2485A>C)
c.1159A>C (p.Lys387Gln)
c.976A>C (p.Lys326Gln)
1g.77935964A>GCA340879203NEXNc.1393A>G (p.Lys465Glu)
c.1201A>G (p.Lys401Glu)
c.1092A>G
n.853A>G
n.967A>G
c.1351A>G (p.Lys451Glu)
c.1251+2485A>G (n.1251+2485A>G)
c.1159A>G (p.Lys387Glu)
c.976A>G (p.Lys326Glu)
1g.77935964A>TCA340879204NEXNc.1393A>T (p.Lys465Ter)
c.1201A>T (p.Lys401Ter)
c.1092A>T
n.853A>T
n.967A>T
c.1351A>T (p.Lys451Ter)
c.1251+2485A>T (n.1251+2485A>T)
c.1159A>T (p.Lys387Ter)
c.976A>T (p.Lys326Ter)
1g.77935970dupCA2573132568NEXNc.1399dup (p.Ile467AsnfsTer12)
c.1207dup (p.Ile403AsnfsTer12)
c.1098dup
n.973dup
c.1357dup (p.Ile453AsnfsTer12)
c.1251+2491dup (n.1251+2491dup)
c.1165dup (p.Ile389AsnfsTer12)
c.982dup (p.Ile328AsnfsTer12)
 ClinVar dbSNP gnomAD v4
1g.77935970delCA524231039NEXNc.1399del (p.Ile467Ter)
c.1207del (p.Ile403Ter)
c.1098del
n.859del
n.973del
c.1357del (p.Ile453Ter)
c.1251+2491del (n.1251+2491del)
c.1165del (p.Ile389Ter)
c.982del (p.Ile328Ter)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.77935965A>CCA340879205NEXNc.1394A>C (p.Lys465Thr)
c.1202A>C (p.Lys401Thr)
c.1093A>C
n.854A>C
n.968A>C
c.1352A>C (p.Lys451Thr)
c.1251+2486A>C (n.1251+2486A>C)
c.1160A>C (p.Lys387Thr)
c.977A>C (p.Lys326Thr)
1g.77935965A>GCA340879206NEXNc.1394A>G (p.Lys465Arg)
c.1202A>G (p.Lys401Arg)
c.1093A>G
n.854A>G
n.968A>G
c.1352A>G (p.Lys451Arg)
c.1251+2486A>G (n.1251+2486A>G)
c.1160A>G (p.Lys387Arg)
c.977A>G (p.Lys326Arg)
1g.77935965A>TCA340879208NEXNc.1394A>T (p.Lys465Ile)
c.1202A>T (p.Lys401Ile)
c.1093A>T
n.854A>T
n.968A>T
c.1352A>T (p.Lys451Ile)
c.1251+2486A>T (n.1251+2486A>T)
c.1160A>T (p.Lys387Ile)
c.977A>T (p.Lys326Ile)
1g.77935966A>CCA340879209NEXNc.1395A>C (p.Lys465Asn)
c.1203A>C (p.Lys401Asn)
c.1094A>C
n.855A>C
n.969A>C
c.1353A>C (p.Lys451Asn)
c.1251+2487A>C (n.1251+2487A>C)
c.1161A>C (p.Lys387Asn)
c.978A>C (p.Lys326Asn)
 gnomAD v4
1g.77935966A>GCA418709444NEXNc.1395A>G (p.Lys465=)
c.1203A>G (p.Lys401=)
c.1094A>G
n.855A>G
n.969A>G
c.1353A>G (p.Lys451=)
c.1251+2487A>G (n.1251+2487A>G)
c.1161A>G (p.Lys387=)
c.978A>G (p.Lys326=)
1g.77935966A>TCA340879210NEXNc.1395A>T (p.Lys465Asn)
c.1203A>T (p.Lys401Asn)
c.1094A>T
n.855A>T
n.969A>T
c.1353A>T (p.Lys451Asn)
c.1251+2487A>T (n.1251+2487A>T)
c.1161A>T (p.Lys387Asn)
c.978A>T (p.Lys326Asn)
1g.77935967A=CA1177628320NEXNc.1396A= (p.Lys466=)
c.1204A= (p.Lys402=)
c.1095A=
n.856A=
n.970A=
c.1354A= (p.Lys452=)
c.1251+2488A= (n.1251+2488A=)
c.1162A= (p.Lys388=)
c.979A= (p.Lys327=)
1g.77935967A>CCA340879211NEXNc.1396A>C (p.Lys466Gln)
c.1204A>C (p.Lys402Gln)
c.1095A>C
n.856A>C
n.970A>C
c.1354A>C (p.Lys452Gln)
c.1251+2488A>C (n.1251+2488A>C)
c.1162A>C (p.Lys388Gln)
c.979A>C (p.Lys327Gln)
 dbSNP
1g.77935967A>GCA340879213NEXNc.1396A>G (p.Lys466Glu)
c.1204A>G (p.Lys402Glu)
c.1095A>G
n.856A>G
n.970A>G
c.1354A>G (p.Lys452Glu)
c.1251+2488A>G (n.1251+2488A>G)
c.1162A>G (p.Lys388Glu)
c.979A>G (p.Lys327Glu)
1g.77935967A>TCA340879214NEXNc.1396A>T (p.Lys466Ter)
c.1204A>T (p.Lys402Ter)
c.1095A>T
n.856A>T
n.970A>T
c.1354A>T (p.Lys452Ter)
c.1251+2488A>T (n.1251+2488A>T)
c.1162A>T (p.Lys388Ter)
c.979A>T (p.Lys327Ter)
1g.77935968A>CCA340879217NEXNc.1397A>C (p.Lys466Thr)
c.1205A>C (p.Lys402Thr)
c.1096A>C
n.857A>C
n.971A>C
c.1355A>C (p.Lys452Thr)
c.1251+2489A>C (n.1251+2489A>C)
c.1163A>C (p.Lys388Thr)
c.980A>C (p.Lys327Thr)
1g.77935968A>GCA340879220NEXNc.1397A>G (p.Lys466Arg)
c.1205A>G (p.Lys402Arg)
c.1096A>G
n.857A>G
n.971A>G
c.1355A>G (p.Lys452Arg)
c.1251+2489A>G (n.1251+2489A>G)
c.1163A>G (p.Lys388Arg)
c.980A>G (p.Lys327Arg)
1g.77935968A>TCA340879218NEXNc.1397A>T (p.Lys466Ile)
c.1205A>T (p.Lys402Ile)
c.1096A>T
n.857A>T
n.971A>T
c.1355A>T (p.Lys452Ile)
c.1251+2489A>T (n.1251+2489A>T)
c.1163A>T (p.Lys388Ile)
c.980A>T (p.Lys327Ile)
1g.77935969A>CCA340879224NEXNc.1398A>C (p.Lys466Asn)
c.1206A>C (p.Lys402Asn)
c.1097A>C
n.858A>C
n.972A>C
c.1356A>C (p.Lys452Asn)
c.1251+2490A>C (n.1251+2490A>C)
c.1164A>C (p.Lys388Asn)
c.981A>C (p.Lys327Asn)
1g.77935969A>GCA418709445NEXNc.1398A>G (p.Lys466=)
c.1206A>G (p.Lys402=)
c.1097A>G
n.858A>G
n.972A>G
c.1356A>G (p.Lys452=)
c.1251+2490A>G (n.1251+2490A>G)
c.1164A>G (p.Lys388=)
c.981A>G (p.Lys327=)
 dbSNP
1g.77935969A>TCA340879225NEXNc.1398A>T (p.Lys466Asn)
c.1206A>T (p.Lys402Asn)
c.1097A>T
n.858A>T
n.972A>T
c.1356A>T (p.Lys452Asn)
c.1251+2490A>T (n.1251+2490A>T)
c.1164A>T (p.Lys388Asn)
c.981A>T (p.Lys327Asn)
1g.77935970_77935972delCA2586966785NEXNc.1399_1401del (p.Ile467del)
c.1207_1209del (p.Ile403del)
c.1098_1100del
n.973_975del
c.1357_1359del (p.Ile453del)
c.1251+2491_1251+2493del (n.1251+2491_1251+2493del)
c.1165_1167del (p.Ile389del)
c.982_984del (p.Ile328del)
1g.77935970A>CCA340879230NEXNc.1399A>C (p.Ile467Leu)
c.1207A>C (p.Ile403Leu)
c.1098A>C
n.859A>C
n.973A>C
c.1357A>C (p.Ile453Leu)
c.1251+2491A>C (n.1251+2491A>C)
c.1165A>C (p.Ile389Leu)
c.982A>C (p.Ile328Leu)
1g.77935970A>GCA340879232NEXNc.1399A>G (p.Ile467Val)
c.1207A>G (p.Ile403Val)
c.1098A>G
n.859A>G
n.973A>G
c.1357A>G (p.Ile453Val)
c.1251+2491A>G (n.1251+2491A>G)
c.1165A>G (p.Ile389Val)
c.982A>G (p.Ile328Val)
1g.77935970A>TCA340879234NEXNc.1399A>T (p.Ile467Leu)
c.1207A>T (p.Ile403Leu)
c.1098A>T
n.859A>T
n.973A>T
c.1357A>T (p.Ile453Leu)
c.1251+2491A>T (n.1251+2491A>T)
c.1165A>T (p.Ile389Leu)
c.982A>T (p.Ile328Leu)
1g.77935970_77935973delinsATAGCA1177628321NEXNc.1399_1402delinsATAG (p.Ile467=)
c.1207_1210delinsATAG (p.Ile403=)
c.1098_1101delinsATAG
n.973_976delinsATAG
c.1357_1360delinsATAG (p.Ile453=)
c.1251+2491_1251+2494delinsATAG (n.1251+2491_1251+2494delinsATAG)
c.1165_1168delinsATAG (p.Ile389=)
c.982_985delinsATAG (p.Ile328=)
1g.77935971delCA2580063265NEXNc.1400del (p.Ile467LysfsTer?)
c.1208del (p.Ile403LysfsTer?)
c.1099del
n.974del
c.1358del (p.Ile453LysfsTer?)
c.1251+2492del (n.1251+2492del)
c.1166del (p.Ile389LysfsTer?)
c.983del (p.Ile328LysfsTer?)
 ClinVar gnomAD v4
1g.77935971T>ACA340879235NEXNc.1400T>A (p.Ile467Lys)
c.1208T>A (p.Ile403Lys)
c.1099T>A
n.974T>A
c.1358T>A (p.Ile453Lys)
c.1251+2492T>A (n.1251+2492T>A)
c.1166T>A (p.Ile389Lys)
c.983T>A (p.Ile328Lys)
1g.77935971T>CCA076791NEXNc.1400T>C (p.Ile467Thr)
c.1208T>C (p.Ile403Thr)
c.1099T>C
n.974T>C
c.1358T>C (p.Ile453Thr)
c.1251+2492T>C (n.1251+2492T>C)
c.1166T>C (p.Ile389Thr)
c.983T>C (p.Ile328Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935971T>GCA340879241NEXNc.1400T>G (p.Ile467Arg)
c.1208T>G (p.Ile403Arg)
c.1099T>G
n.974T>G
c.1358T>G (p.Ile453Arg)
c.1251+2492T>G (n.1251+2492T>G)
c.1166T>G (p.Ile389Arg)
c.983T>G (p.Ile328Arg)
1g.77935971T=CA1143713865NEXNc.1400T= (p.Ile467=)
c.1208T= (p.Ile403=)
c.1099T=
n.974T=
c.1358T= (p.Ile453=)
c.1251+2492T= (n.1251+2492T=)
c.1166T= (p.Ile389=)
c.983T= (p.Ile328=)
1g.77935971_77935973delCA1177628323NEXNc.1400_1402del (p.Ile467_Glu468delinsLys)
c.1208_1210del (p.Ile403_Glu404delinsLys)
c.1099_1101del
n.974_976del
c.1358_1360del (p.Ile453_Glu454delinsLys)
c.1251+2492_1251+2494del (n.1251+2492_1251+2494del)
c.1166_1168del (p.Ile389_Glu390delinsLys)
c.983_985del (p.Ile328_Glu329delinsLys)
 dbSNP
1g.77935971_77935974delinsTAGACA1177628322NEXNc.1400_1403delinsTAGA (p.Ile467=)
c.1208_1211delinsTAGA (p.Ile403=)
c.1099_1102delinsTAGA
n.974_977delinsTAGA
c.1358_1361delinsTAGA (p.Ile453=)
c.1251+2492_1251+2495delinsTAGA (n.1251+2492_1251+2495delinsTAGA)
c.1166_1169delinsTAGA (p.Ile389=)
c.983_986delinsTAGA (p.Ile328=)
1g.77935972A=CA1177628325NEXNc.1401A= (p.Ile467=)
c.1209A= (p.Ile403=)
c.1100A=
n.975A=
c.1359A= (p.Ile453=)
c.1251+2493A= (n.1251+2493A=)
c.1167A= (p.Ile389=)
c.984A= (p.Ile328=)
1g.77935972A>CCA418709446NEXNc.1401A>C (p.Ile467=)
c.1209A>C (p.Ile403=)
c.1100A>C
n.975A>C
c.1359A>C (p.Ile453=)
c.1251+2493A>C (n.1251+2493A>C)
c.1167A>C (p.Ile389=)
c.984A>C (p.Ile328=)
1g.77935972A>GCA340879243NEXNc.1401A>G (p.Ile467Met)
c.1209A>G (p.Ile403Met)
c.1100A>G
n.975A>G
c.1359A>G (p.Ile453Met)
c.1251+2493A>G (n.1251+2493A>G)
c.1167A>G (p.Ile389Met)
c.984A>G (p.Ile328Met)
1g.77935972A>TCA418709447NEXNc.1401A>T (p.Ile467=)
c.1209A>T (p.Ile403=)
c.1100A>T
n.975A>T
c.1359A>T (p.Ile453=)
c.1251+2493A>T (n.1251+2493A>T)
c.1167A>T (p.Ile389=)
c.984A>T (p.Ile328=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77935972_77935980delinsAGAAGAAGACA1144228874NEXNc.1401_1409delinsAGAAGAAGA (p.Ile467=)
c.1209_1217delinsAGAAGAAGA (p.Ile403=)
c.1100_1108delinsAGAAGAAGA
n.975_983delinsAGAAGAAGA
c.1359_1367delinsAGAAGAAGA (p.Ile453=)
c.1251+2493_1251+2501delinsAGAAGAAGA (n.1251+2493_1251+2501delinsAGAAGAAGA)
c.1167_1175delinsAGAAGAAGA (p.Ile389=)
c.984_992delinsAGAAGAAGA (p.Ile328=)
1g.77935978_77935980dupCA1177628324NEXNc.1407_1409dup (p.Glu470_Arg471insGlu)
c.1215_1217dup (p.Glu406_Arg407insGlu)
c.1106_1108dup
n.981_983dup
c.1365_1367dup (p.Glu456_Arg457insGlu)
c.1251+2499_1251+2501dup (n.1251+2499_1251+2501dup)
c.1173_1175dup (p.Glu392_Arg393insGlu)
c.990_992dup (p.Glu331_Arg332insGlu)
 dbSNP
1g.77935978_77935980delCA142113NEXNc.1407_1409del (p.Glu470del)
c.1215_1217del (p.Glu406del)
c.1106_1108del
n.981_983del
c.1365_1367del (p.Glu456del)
c.1251+2499_1251+2501del (n.1251+2499_1251+2501del)
c.1173_1175del (p.Glu392del)
c.990_992del (p.Glu331del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935973G>ACA340879248NEXNc.1402G>A (p.Glu468Lys)
c.1210G>A (p.Glu404Lys)
c.1101G>A
n.976G>A
c.1360G>A (p.Glu454Lys)
c.1251+2494G>A (n.1251+2494G>A)
c.1168G>A (p.Glu390Lys)
c.985G>A (p.Glu329Lys)
 gnomAD v4
1g.77935973G>CCA340879247NEXNc.1402G>C (p.Glu468Gln)
c.1210G>C (p.Glu404Gln)
c.1101G>C
n.976G>C
c.1360G>C (p.Glu454Gln)
c.1251+2494G>C (n.1251+2494G>C)
c.1168G>C (p.Glu390Gln)
c.985G>C (p.Glu329Gln)
 gnomAD v4
1g.77935973G>TCA340879245NEXNc.1402G>T (p.Glu468Ter)
c.1210G>T (p.Glu404Ter)
c.1101G>T
n.976G>T
c.1360G>T (p.Glu454Ter)
c.1251+2494G>T (n.1251+2494G>T)
c.1168G>T (p.Glu390Ter)
c.985G>T (p.Glu329Ter)
1g.77935974A=CA1177628326NEXNc.1403A= (p.Glu468=)
c.1211A= (p.Glu404=)
c.1102A=
n.977A=
c.1361A= (p.Glu454=)
c.1251+2495A= (n.1251+2495A=)
c.1169A= (p.Glu390=)
c.986A= (p.Glu329=)
1g.77935974A>CCA340879249NEXNc.1403A>C (p.Glu468Ala)
c.1211A>C (p.Glu404Ala)
c.1102A>C
n.977A>C
c.1361A>C (p.Glu454Ala)
c.1251+2495A>C (n.1251+2495A>C)
c.1169A>C (p.Glu390Ala)
c.986A>C (p.Glu329Ala)
1g.77935974A>GCA340879250NEXNc.1403A>G (p.Glu468Gly)
c.1211A>G (p.Glu404Gly)
c.1102A>G
n.977A>G
c.1361A>G (p.Glu454Gly)
c.1251+2495A>G (n.1251+2495A>G)
c.1169A>G (p.Glu390Gly)
c.986A>G (p.Glu329Gly)
1g.77935974A>TCA340879251NEXNc.1403A>T (p.Glu468Val)
c.1211A>T (p.Glu404Val)
c.1102A>T
n.977A>T
c.1361A>T (p.Glu454Val)
c.1251+2495A>T (n.1251+2495A>T)
c.1169A>T (p.Glu390Val)
c.986A>T (p.Glu329Val)
 dbSNP gnomAD v3 gnomAD v4
1g.77935975A=CA1177628327NEXNc.1404A= (p.Glu468=)
c.1212A= (p.Glu404=)
c.1103A=
n.978A=
c.1362A= (p.Glu454=)
c.1251+2496A= (n.1251+2496A=)
c.1170A= (p.Glu390=)
c.987A= (p.Glu329=)
1g.77935975A>CCA340879252NEXNc.1404A>C (p.Glu468Asp)
c.1212A>C (p.Glu404Asp)
c.1103A>C
n.978A>C
c.1362A>C (p.Glu454Asp)
c.1251+2496A>C (n.1251+2496A>C)
c.1170A>C (p.Glu390Asp)
c.987A>C (p.Glu329Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.77935975A>GCA418709449NEXNc.1404A>G (p.Glu468=)
c.1212A>G (p.Glu404=)
c.1103A>G
n.978A>G
c.1362A>G (p.Glu454=)
c.1251+2496A>G (n.1251+2496A>G)
c.1170A>G (p.Glu390=)
c.987A>G (p.Glu329=)
 gnomAD v4
1g.77935975A>TCA340879253NEXNc.1404A>T (p.Glu468Asp)
c.1212A>T (p.Glu404Asp)
c.1103A>T
n.978A>T
c.1362A>T (p.Glu454Asp)
c.1251+2496A>T (n.1251+2496A>T)
c.1170A>T (p.Glu390Asp)
c.987A>T (p.Glu329Asp)
1g.77935976G>ACA340879254NEXNc.1405G>A (p.Glu469Lys)
c.1213G>A (p.Glu405Lys)
c.1104G>A
n.979G>A
c.1363G>A (p.Glu455Lys)
c.1251+2497G>A (n.1251+2497G>A)
c.1171G>A (p.Glu391Lys)
c.988G>A (p.Glu330Lys)
 gnomAD v4
1g.77935976G>CCA340879255NEXNc.1405G>C (p.Glu469Gln)
c.1213G>C (p.Glu405Gln)
c.1104G>C
n.979G>C
c.1363G>C (p.Glu455Gln)
c.1251+2497G>C (n.1251+2497G>C)
c.1171G>C (p.Glu391Gln)
c.988G>C (p.Glu330Gln)
1g.77935976G>TCA340879256NEXNc.1405G>T (p.Glu469Ter)
c.1213G>T (p.Glu405Ter)
c.1104G>T
n.979G>T
c.1363G>T (p.Glu455Ter)
c.1251+2497G>T (n.1251+2497G>T)
c.1171G>T (p.Glu391Ter)
c.988G>T (p.Glu330Ter)
1g.77935977A>CCA340879258NEXNc.1406A>C (p.Glu469Ala)
c.1214A>C (p.Glu405Ala)
c.1105A>C
n.980A>C
c.1364A>C (p.Glu455Ala)
c.1251+2498A>C (n.1251+2498A>C)
c.1172A>C (p.Glu391Ala)
c.989A>C (p.Glu330Ala)
1g.77935977A>GCA340879261NEXNc.1406A>G (p.Glu469Gly)
c.1214A>G (p.Glu405Gly)
c.1105A>G
n.980A>G
c.1364A>G (p.Glu455Gly)
c.1251+2498A>G (n.1251+2498A>G)
c.1172A>G (p.Glu391Gly)
c.989A>G (p.Glu330Gly)
1g.77935977A>TCA340879262NEXNc.1406A>T (p.Glu469Val)
c.1214A>T (p.Glu405Val)
c.1105A>T
n.980A>T
c.1364A>T (p.Glu455Val)
c.1251+2498A>T (n.1251+2498A>T)
c.1172A>T (p.Glu391Val)
c.989A>T (p.Glu330Val)
1g.77935978A>CCA340879263NEXNc.1407A>C (p.Glu469Asp)
c.1215A>C (p.Glu405Asp)
c.1106A>C
n.981A>C
c.1365A>C (p.Glu455Asp)
c.1251+2499A>C (n.1251+2499A>C)
c.1173A>C (p.Glu391Asp)
c.990A>C (p.Glu330Asp)
 ClinVar
1g.77935978A>GCA418709452NEXNc.1407A>G (p.Glu469=)
c.1215A>G (p.Glu405=)
c.1106A>G
n.981A>G
c.1365A>G (p.Glu455=)
c.1251+2499A>G (n.1251+2499A>G)
c.1173A>G (p.Glu391=)
c.990A>G (p.Glu330=)
 gnomAD v4
1g.77935978A>TCA340879264NEXNc.1407A>T (p.Glu469Asp)
c.1215A>T (p.Glu405Asp)
c.1106A>T
n.981A>T
c.1365A>T (p.Glu455Asp)
c.1251+2499A>T (n.1251+2499A>T)
c.1173A>T (p.Glu391Asp)
c.990A>T (p.Glu330Asp)
1g.77935978delinsGCCA2580063267NEXNc.1407delinsGC (p.Glu470ArgfsTer9)
c.1215delinsGC (p.Glu406ArgfsTer9)
c.1106delinsGC
n.981delinsGC
c.1365delinsGC (p.Glu456ArgfsTer9)
c.1251+2499delinsGC (n.1251+2499delinsGC)
c.1173delinsGC (p.Glu392ArgfsTer9)
c.990delinsGC (p.Glu331ArgfsTer9)
 ClinVar
1g.77935979G>ACA340879269NEXNc.1408G>A (p.Glu470Lys)
c.1216G>A (p.Glu406Lys)
c.1107G>A
n.982G>A
c.1366G>A (p.Glu456Lys)
c.1251+2500G>A (n.1251+2500G>A)
c.1174G>A (p.Glu392Lys)
c.991G>A (p.Glu331Lys)
 dbSNP gnomAD v4
1g.77935979G>CCA181124NEXNc.1408G>C (p.Glu470Gln)
c.1216G>C (p.Glu406Gln)
c.1107G>C
n.982G>C
c.1366G>C (p.Glu456Gln)
c.1251+2500G>C (n.1251+2500G>C)
c.1174G>C (p.Glu392Gln)
c.991G>C (p.Glu331Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935979G=CA1140567794NEXNc.1408G= (p.Glu470=)
c.1216G= (p.Glu406=)
c.1107G=
n.982G=
c.1366G= (p.Glu456=)
c.1251+2500G= (n.1251+2500G=)
c.1174G= (p.Glu392=)
c.991G= (p.Glu331=)
1g.77935979G>TCA340879267NEXNc.1408G>T (p.Glu470Ter)
c.1216G>T (p.Glu406Ter)
c.1107G>T
n.982G>T
c.1366G>T (p.Glu456Ter)
c.1251+2500G>T (n.1251+2500G>T)
c.1174G>T (p.Glu392Ter)
c.991G>T (p.Glu331Ter)
 gnomAD v4
1g.77935983_77935986delCA2542462886NEXNc.1412_1415del (p.Arg471GlnfsTer?)
c.1220_1223del (p.Arg407GlnfsTer?)
c.1111_1114del
n.986_989del
c.1370_1373del (p.Arg457GlnfsTer?)
c.1251+2504_1251+2507del (n.1251+2504_1251+2507del)
c.1178_1181del (p.Arg393GlnfsTer?)
c.995_998del (p.Arg332GlnfsTer?)
 gnomAD v4
1g.77935980A=CA1177628328NEXNc.1409A= (p.Glu470=)
c.1217A= (p.Glu406=)
c.1108A=
n.983A=
c.1367A= (p.Glu456=)
c.1251+2501A= (n.1251+2501A=)
c.1175A= (p.Glu392=)
c.992A= (p.Glu331=)
1g.77935980A>CCA918869NEXNc.1409A>C (p.Glu470Ala)
c.1217A>C (p.Glu406Ala)
c.1108A>C
n.983A>C
c.1367A>C (p.Glu456Ala)
c.1251+2501A>C (n.1251+2501A>C)
c.1175A>C (p.Glu392Ala)
c.992A>C (p.Glu331Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77935980A>GCA340879270NEXNc.1409A>G (p.Glu470Gly)
c.1217A>G (p.Glu406Gly)
c.1108A>G
n.983A>G
c.1367A>G (p.Glu456Gly)
c.1251+2501A>G (n.1251+2501A>G)
c.1175A>G (p.Glu392Gly)
c.992A>G (p.Glu331Gly)
1g.77935980A>TCA340879271NEXNc.1409A>T (p.Glu470Val)
c.1217A>T (p.Glu406Val)
c.1108A>T
n.983A>T
c.1367A>T (p.Glu456Val)
c.1251+2501A>T (n.1251+2501A>T)
c.1175A>T (p.Glu392Val)
c.992A>T (p.Glu331Val)
1g.77935981G>ACA418709457NEXNc.1410G>A (p.Glu470=)
c.1218G>A (p.Glu406=)
c.1109G>A
n.984G>A
c.1368G>A (p.Glu456=)
c.1251+2502G>A (n.1251+2502G>A)
c.1176G>A (p.Glu392=)
c.993G>A (p.Glu331=)
 dbSNP
1g.77935981G>CCA340879272NEXNc.1410G>C (p.Glu470Asp)
c.1218G>C (p.Glu406Asp)
c.1109G>C
n.984G>C
c.1368G>C (p.Glu456Asp)
c.1251+2502G>C (n.1251+2502G>C)
c.1176G>C (p.Glu392Asp)
c.993G>C (p.Glu331Asp)
1g.77935981G>TCA340879273NEXNc.1410G>T (p.Glu470Asp)
c.1218G>T (p.Glu406Asp)
c.1109G>T
n.984G>T
c.1368G>T (p.Glu456Asp)
c.1251+2502G>T (n.1251+2502G>T)
c.1176G>T (p.Glu392Asp)
c.993G>T (p.Glu331Asp)
1g.77935982C>ACA418709460NEXNc.1411C>A (p.Arg471=)
c.1219C>A (p.Arg407=)
c.1110C>A
n.985C>A
c.1369C>A (p.Arg457=)
c.1251+2503C>A (n.1251+2503C>A)
c.1177C>A (p.Arg393=)
c.994C>A (p.Arg332=)
 ClinVar gnomAD v4
1g.77935982C=CA1177628329NEXNc.1411C= (p.Arg471=)
c.1219C= (p.Arg407=)
c.1110C=
n.985C=
c.1369C= (p.Arg457=)
c.1251+2503C= (n.1251+2503C=)
c.1177C= (p.Arg393=)
c.994C= (p.Arg332=)
1g.77935982C>GCA340879274NEXNc.1411C>G (p.Arg471Gly)
c.1219C>G (p.Arg407Gly)
c.1110C>G
n.985C>G
c.1369C>G (p.Arg457Gly)
c.1251+2503C>G (n.1251+2503C>G)
c.1177C>G (p.Arg393Gly)
c.994C>G (p.Arg332Gly)
1g.77935982C>TCA918870NEXNc.1411C>T (p.Arg471Ter)
c.1219C>T (p.Arg407Ter)
c.1110C>T
n.985C>T
c.1369C>T (p.Arg457Ter)
c.1251+2503C>T (n.1251+2503C>T)
c.1177C>T (p.Arg393Ter)
c.994C>T (p.Arg332Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935983G>ACA918871NEXNc.1412G>A (p.Arg471Gln)
c.1220G>A (p.Arg407Gln)
c.1111G>A
n.986G>A
c.1370G>A (p.Arg457Gln)
c.1251+2504G>A (n.1251+2504G>A)
c.1178G>A (p.Arg393Gln)
c.995G>A (p.Arg332Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77935983G>CCA340879277NEXNc.1412G>C (p.Arg471Pro)
c.1220G>C (p.Arg407Pro)
c.1111G>C
n.986G>C
c.1370G>C (p.Arg457Pro)
c.1251+2504G>C (n.1251+2504G>C)
c.1178G>C (p.Arg393Pro)
c.995G>C (p.Arg332Pro)
1g.77935983G=CA1148411205NEXNc.1412G= (p.Arg471=)
c.1220G= (p.Arg407=)
c.1111G=
n.986G=
c.1370G= (p.Arg457=)
c.1251+2504G= (n.1251+2504G=)
c.1178G= (p.Arg393=)
c.995G= (p.Arg332=)
1g.77935983G>TCA918872NEXNc.1412G>T (p.Arg471Leu)
c.1220G>T (p.Arg407Leu)
c.1111G>T
n.986G>T
c.1370G>T (p.Arg457Leu)
c.1251+2504G>T (n.1251+2504G>T)
c.1178G>T (p.Arg393Leu)
c.995G>T (p.Arg332Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77935984A=CA1177628330NEXNc.1413A= (p.Arg471=)
c.1221A= (p.Arg407=)
c.1112A=
n.987A=
c.1371A= (p.Arg457=)
c.1251+2505A= (n.1251+2505A=)
c.1179A= (p.Arg393=)
c.996A= (p.Arg332=)
1g.77935984A>CCA418709463NEXNc.1413A>C (p.Arg471=)
c.1221A>C (p.Arg407=)
c.1112A>C
n.987A>C
c.1371A>C (p.Arg457=)
c.1251+2505A>C (n.1251+2505A>C)
c.1179A>C (p.Arg393=)
c.996A>C (p.Arg332=)
1g.77935984A>GCA918873NEXNc.1413A>G (p.Arg471=)
c.1221A>G (p.Arg407=)
c.1112A>G
n.987A>G
c.1371A>G (p.Arg457=)
c.1251+2505A>G (n.1251+2505A>G)
c.1179A>G (p.Arg393=)
c.996A>G (p.Arg332=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77935984A>TCA418709464NEXNc.1413A>T (p.Arg471=)
c.1221A>T (p.Arg407=)
c.1112A>T
n.987A>T
c.1371A>T (p.Arg457=)
c.1251+2505A>T (n.1251+2505A>T)
c.1179A>T (p.Arg393=)
c.996A>T (p.Arg332=)
1g.77935985G>ACA24686664NEXNc.1414G>A (p.Ala472Thr)
c.1222G>A (p.Ala408Thr)
c.1113G>A
n.988G>A
c.1372G>A (p.Ala458Thr)
c.1251+2506G>A (n.1251+2506G>A)
c.1180G>A (p.Ala394Thr)
c.997G>A (p.Ala333Thr)
 dbSNP
1g.77935985G>CCA340879287NEXNc.1414G>C (p.Ala472Pro)
c.1222G>C (p.Ala408Pro)
c.1113G>C
n.988G>C
c.1372G>C (p.Ala458Pro)
c.1251+2506G>C (n.1251+2506G>C)
c.1180G>C (p.Ala394Pro)
c.997G>C (p.Ala333Pro)
1g.77935985G=CA1143959920NEXNc.1414G= (p.Ala472=)
c.1222G= (p.Ala408=)
c.1113G=
n.988G=
c.1372G= (p.Ala458=)
c.1251+2506G= (n.1251+2506G=)
c.1180G= (p.Ala394=)
c.997G= (p.Ala333=)
1g.77935985G>TCA340879281NEXNc.1414G>T (p.Ala472Ser)
c.1222G>T (p.Ala408Ser)
c.1113G>T
n.988G>T
c.1372G>T (p.Ala458Ser)
c.1251+2506G>T (n.1251+2506G>T)
c.1180G>T (p.Ala394Ser)
c.997G>T (p.Ala333Ser)
1g.77935986C>ACA340879290NEXNc.1415C>A (p.Ala472Glu)
c.1223C>A (p.Ala408Glu)
c.1114C>A
n.989C>A
c.1373C>A (p.Ala458Glu)
c.1251+2507C>A (n.1251+2507C>A)
c.1181C>A (p.Ala394Glu)
c.998C>A (p.Ala333Glu)
1g.77935986C=CA1145181105NEXNc.1415C= (p.Ala472=)
c.1223C= (p.Ala408=)
c.1114C=
n.989C=
c.1373C= (p.Ala458=)
c.1251+2507C= (n.1251+2507C=)
c.1181C= (p.Ala394=)
c.998C= (p.Ala333=)
1g.77935986C>GCA918874NEXNc.1415C>G (p.Ala472Gly)
c.1223C>G (p.Ala408Gly)
c.1114C>G
n.989C>G
c.1373C>G (p.Ala458Gly)
c.1251+2507C>G (n.1251+2507C>G)
c.1181C>G (p.Ala394Gly)
c.998C>G (p.Ala333Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77935986C>TCA340879291NEXNc.1415C>T (p.Ala472Val)
c.1223C>T (p.Ala408Val)
c.1114C>T
n.989C>T
c.1373C>T (p.Ala458Val)
c.1251+2507C>T (n.1251+2507C>T)
c.1181C>T (p.Ala394Val)
c.998C>T (p.Ala333Val)
 gnomAD v4
1g.77935986_77935989delinsCAAGCA1177628331NEXNc.1415_1418delinsCAAG (p.Ala472=)
c.1223_1226delinsCAAG (p.Ala408=)
c.1114_1117delinsCAAG
n.989_992delinsCAAG
c.1373_1376delinsCAAG (p.Ala458=)
c.1251+2507_1251+2510delinsCAAG (n.1251+2507_1251+2510delinsCAAG)
c.1181_1184delinsCAAG (p.Ala394=)
c.998_1001delinsCAAG (p.Ala333=)
1g.77935987A>CCA418709471NEXNc.1416A>C (p.Ala472=)
c.1224A>C (p.Ala408=)
c.1115A>C
n.990A>C
c.1374A>C (p.Ala458=)
c.1251+2508A>C (n.1251+2508A>C)
c.1182A>C (p.Ala394=)
c.999A>C (p.Ala333=)
1g.77935987A>GCA418709468NEXNc.1416A>G (p.Ala472=)
c.1224A>G (p.Ala408=)
c.1115A>G
n.990A>G
c.1374A>G (p.Ala458=)
c.1251+2508A>G (n.1251+2508A>G)
c.1182A>G (p.Ala394=)
c.999A>G (p.Ala333=)
1g.77935987A>TCA418709469NEXNc.1416A>T (p.Ala472=)
c.1224A>T (p.Ala408=)
c.1115A>T
n.990A>T
c.1374A>T (p.Ala458=)
c.1251+2508A>T (n.1251+2508A>T)
c.1182A>T (p.Ala394=)
c.999A>T (p.Ala333=)
1g.77935990_77935992delCA335456NEXNc.1419_1421del (p.Arg474del)
c.1227_1229del (p.Arg410del)
c.1118_1120del
n.993_995del
c.1377_1379del (p.Arg460del)
c.1251+2511_1251+2513del (n.1251+2511_1251+2513del)
c.1185_1187del (p.Arg396del)
c.1002_1004del (p.Arg335del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched