Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.41474575_41474910delCA2573050969NYXc.1107_*11del (n.[c.1107_*11del;Ser369ArgfsTer10])
c.1122_*11del (n.[c.1122_*11del;Ser374ArgfsTer10])
Xg.41474621G>ACA412992898NYXc.1153G>A (p.Glu385Lys)
c.1168G>A (p.Glu390Lys)
 dbSNP
Xg.41474621G>CCA412992900NYXc.1153G>C (p.Glu385Gln)
c.1168G>C (p.Glu390Gln)
Xg.41474621G=CA2425928145NYXc.1153G= (p.Glu385=)
c.1168G= (p.Glu390=)
Xg.41474621G>TCA329217082NYXc.1153G>T (p.Glu385Ter)
c.1168G>T (p.Glu390Ter)
 dbSNP gnomAD v4 COSMIC
Xg.41474622A>CCA412992903NYXc.1154A>C (p.Glu385Ala)
c.1169A>C (p.Glu390Ala)
Xg.41474622A>GCA412992904NYXc.1154A>G (p.Glu385Gly)
c.1169A>G (p.Glu390Gly)
Xg.41474622A>TCA412992906NYXc.1154A>T (p.Glu385Val)
c.1169A>T (p.Glu390Val)
Xg.41474623G>ACA516366106NYXc.1155G>A (p.Glu385=)
c.1170G>A (p.Glu390=)
Xg.41474623G>CCA329217083NYXc.1155G>C (p.Glu385Asp)
c.1170G>C (p.Glu390Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474623G=CA2425928146NYXc.1155G= (p.Glu385=)
c.1170G= (p.Glu390=)
Xg.41474623G>TCA412992909NYXc.1155G>T (p.Glu385Asp)
c.1170G>T (p.Glu390Asp)
 gnomAD v4
Xg.41474624G>ACA412992911NYXc.1156G>A (p.Glu386Lys)
c.1171G>A (p.Glu391Lys)
Xg.41474624G>CCA412992913NYXc.1156G>C (p.Glu386Gln)
c.1171G>C (p.Glu391Gln)
Xg.41474624G>TCA412992915NYXc.1156G>T (p.Glu386Ter)
c.1171G>T (p.Glu391Ter)
Xg.41474625A>CCA412992917NYXc.1157A>C (p.Glu386Ala)
c.1172A>C (p.Glu391Ala)
Xg.41474625A>GCA412992918NYXc.1157A>G (p.Glu386Gly)
c.1172A>G (p.Glu391Gly)
Xg.41474625A>TCA412992920NYXc.1157A>T (p.Glu386Val)
c.1172A>T (p.Glu391Val)
Xg.41474626G>ACA516366112NYXc.1158G>A (p.Glu386=)
c.1173G>A (p.Glu391=)
 gnomAD v4
Xg.41474626G>CCA412992923NYXc.1158G>C (p.Glu386Asp)
c.1173G>C (p.Glu391Asp)
Xg.41474626G>TCA412992922NYXc.1158G>T (p.Glu386Asp)
c.1173G>T (p.Glu391Asp)
 gnomAD v4
Xg.41474627C>ACA412992926NYXc.1159C>A (p.Leu387Met)
c.1174C>A (p.Leu392Met)
 gnomAD v4
Xg.41474627C=CA2425928147NYXc.1159C= (p.Leu387=)
c.1174C= (p.Leu392=)
Xg.41474627C>GCA412992928NYXc.1159C>G (p.Leu387Val)
c.1174C>G (p.Leu392Val)
 gnomAD v4
Xg.41474627C>TCA329217084NYXc.1159C>T (p.Leu387=)
c.1174C>T (p.Leu392=)
 ClinVar dbSNP gnomAD v4
Xg.41474628T>ACA412992930NYXc.1160T>A (p.Leu387Gln)
c.1175T>A (p.Leu392Gln)
Xg.41474628T>CCA412992932NYXc.1160T>C (p.Leu387Pro)
c.1175T>C (p.Leu392Pro)
 gnomAD v4
Xg.41474628T>GCA412992933NYXc.1160T>G (p.Leu387Arg)
c.1175T>G (p.Leu392Arg)
Xg.41474629G>ACA516366117NYXc.1161G>A (p.Leu387=)
c.1176G>A (p.Leu392=)
Xg.41474629G>CCA516366118NYXc.1161G>C (p.Leu387=)
c.1176G>C (p.Leu392=)
 dbSNP gnomAD v3 gnomAD v4
Xg.41474629G=CA2425928148NYXc.1161G= (p.Leu387=)
c.1176G= (p.Leu392=)
Xg.41474629G>TCA516366120NYXc.1161G>T (p.Leu387=)
c.1176G>T (p.Leu392=)
 gnomAD v4
Xg.41474630A>CCA412992936NYXc.1162A>C (p.Asn388His)
c.1177A>C (p.Asn393His)
Xg.41474630A>GCA412992938NYXc.1162A>G (p.Asn388Asp)
c.1177A>G (p.Asn393Asp)
Xg.41474630A>TCA412992939NYXc.1162A>T (p.Asn388Tyr)
c.1177A>T (p.Asn393Tyr)
Xg.41474631A>CCA412992942NYXc.1163A>C (p.Asn388Thr)
c.1178A>C (p.Asn393Thr)
Xg.41474631A>GCA412992944NYXc.1163A>G (p.Asn388Ser)
c.1178A>G (p.Asn393Ser)
Xg.41474631A>TCA412992945NYXc.1163A>T (p.Asn388Ile)
c.1178A>T (p.Asn393Ile)
Xg.41474632C>ACA412992949NYXc.1164C>A (p.Asn388Lys)
c.1179C>A (p.Asn393Lys)
Xg.41474632C=CA2425928149NYXc.1164C= (p.Asn388=)
c.1179C= (p.Asn393=)
Xg.41474632C>GCA412992948NYXc.1164C>G (p.Asn388Lys)
c.1179C>G (p.Asn393Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.41474632C>TCA516366128NYXc.1164C>T (p.Asn388=)
c.1179C>T (p.Asn393=)
Xg.41474633C>ACA412992952NYXc.1165C>A (p.Leu389Ile)
c.1180C>A (p.Leu394Ile)
 COSMIC
Xg.41474633C=CA2425928150NYXc.1165C= (p.Leu389=)
c.1180C= (p.Leu394=)
Xg.41474633C>GCA412992954NYXc.1165C>G (p.Leu389Val)
c.1180C>G (p.Leu394Val)
Xg.41474633C>TCA10389915NYXc.1165C>T (p.Leu389Phe)
c.1180C>T (p.Leu394Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474634T>ACA412992957NYXc.1166T>A (p.Leu389His)
c.1181T>A (p.Leu394His)
Xg.41474634T>CCA412992959NYXc.1166T>C (p.Leu389Pro)
c.1181T>C (p.Leu394Pro)
Xg.41474634T>GCA412992960NYXc.1166T>G (p.Leu389Arg)
c.1181T>G (p.Leu394Arg)
Xg.41474635C>ACA516366131NYXc.1167C>A (p.Leu389=)
c.1182C>A (p.Leu394=)
 gnomAD v4
Xg.41474635C=CA2425928151NYXc.1167C= (p.Leu389=)
c.1182C= (p.Leu394=)
Xg.41474635C>GCA516366133NYXc.1167C>G (p.Leu389=)
c.1182C>G (p.Leu394=)
Xg.41474635C>TCA10389916NYXc.1167C>T (p.Leu389=)
c.1182C>T (p.Leu394=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474636A>CCA412992964NYXc.1168A>C (p.Thr390Pro)
c.1183A>C (p.Thr395Pro)
Xg.41474636A>GCA412992966NYXc.1168A>G (p.Thr390Ala)
c.1183A>G (p.Thr395Ala)
Xg.41474636A>TCA412992967NYXc.1168A>T (p.Thr390Ser)
c.1183A>T (p.Thr395Ser)
 gnomAD v4
Xg.41474637C>ACA412992970NYXc.1169C>A (p.Thr390Asn)
c.1184C>A (p.Thr395Asn)
 gnomAD v4
Xg.41474637C=CA2425928152NYXc.1169C= (p.Thr390=)
c.1184C= (p.Thr395=)
Xg.41474637C>GCA412992972NYXc.1169C>G (p.Thr390Ser)
c.1184C>G (p.Thr395Ser)
Xg.41474637C>TCA412992973NYXc.1169C>T (p.Thr390Ile)
c.1184C>T (p.Thr395Ile)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474638C>ACA516366143NYXc.1170C>A (p.Thr390=)
c.1185C>A (p.Thr395=)
 gnomAD v4
Xg.41474638C>GCA516366140NYXc.1170C>G (p.Thr390=)
c.1185C>G (p.Thr395=)
Xg.41474638C>TCA516366141NYXc.1170C>T (p.Thr390=)
c.1185C>T (p.Thr395=)
Xg.41474639A=CA2425928153NYXc.1171A= (p.Thr391=)
c.1186A= (p.Thr396=)
Xg.41474639A>CCA412992977NYXc.1171A>C (p.Thr391Pro)
c.1186A>C (p.Thr396Pro)
Xg.41474639A>GCA412992975NYXc.1171A>G (p.Thr391Ala)
c.1186A>G (p.Thr396Ala)
 dbSNP gnomAD v3 gnomAD v4
Xg.41474639A>TCA10389917NYXc.1171A>T (p.Thr391Ser)
c.1186A>T (p.Thr396Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474640C>ACA412992980NYXc.1172C>A (p.Thr391Lys)
c.1187C>A (p.Thr396Lys)
 gnomAD v4
Xg.41474640C>GCA412992981NYXc.1172C>G (p.Thr391Arg)
c.1187C>G (p.Thr396Arg)
 gnomAD v4
Xg.41474640C>TCA412992983NYXc.1172C>T (p.Thr391Met)
c.1187C>T (p.Thr396Met)
 gnomAD v4
Xg.41474641G>ACA516366147NYXc.1173G>A (p.Thr391=)
c.1188G>A (p.Thr396=)
 dbSNP gnomAD v4
Xg.41474641G>CCA516366148NYXc.1173G>C (p.Thr391=)
c.1188G>C (p.Thr396=)
Xg.41474641G=CA2425928154NYXc.1173G= (p.Thr391=)
c.1188G= (p.Thr396=)
Xg.41474641G>TCA516366150NYXc.1173G>T (p.Thr391=)
c.1188G>T (p.Thr396=)
Xg.41474642T>ACA412992985NYXc.1174T>A (p.Ser392Thr)
c.1189T>A (p.Ser397Thr)
Xg.41474642T>CCA412992987NYXc.1174T>C (p.Ser392Pro)
c.1189T>C (p.Ser397Pro)
Xg.41474642T>GCA412992989NYXc.1174T>G (p.Ser392Ala)
c.1189T>G (p.Ser397Ala)
Xg.41474643C>ACA412992991NYXc.1175C>A (p.Ser392Tyr)
c.1190C>A (p.Ser397Tyr)
 ClinVar
Xg.41474643C=CA2425928155NYXc.1175C= (p.Ser392=)
c.1190C= (p.Ser397=)
Xg.41474643C>GCA412992992NYXc.1175C>G (p.Ser392Cys)
c.1190C>G (p.Ser397Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.41474643C>TCA412992994NYXc.1175C>T (p.Ser392Phe)
c.1190C>T (p.Ser397Phe)
 dbSNP gnomAD v4
Xg.41474644C>ACA516366153NYXc.1176C>A (p.Ser392=)
c.1191C>A (p.Ser397=)
 gnomAD v4
Xg.41474644C>GCA516366155NYXc.1176C>G (p.Ser392=)
c.1191C>G (p.Ser397=)
 gnomAD v4
Xg.41474644C>TCA516366157NYXc.1176C>T (p.Ser392=)
c.1191C>T (p.Ser397=)
 gnomAD v4 COSMIC
Xg.41474645A>CCA412992996NYXc.1177A>C (p.Ser393Arg)
c.1192A>C (p.Ser398Arg)
Xg.41474645A>GCA412992997NYXc.1177A>G (p.Ser393Gly)
c.1192A>G (p.Ser398Gly)
Xg.41474645A>TCA412992999NYXc.1177A>T (p.Ser393Cys)
c.1192A>T (p.Ser398Cys)
Xg.41474646G>ACA412993003NYXc.1178G>A (p.Ser393Asn)
c.1193G>A (p.Ser398Asn)
 ClinVar gnomAD v4
Xg.41474646G>CCA412993005NYXc.1178G>C (p.Ser393Thr)
c.1193G>C (p.Ser398Thr)
Xg.41474646G>TCA412993001NYXc.1178G>T (p.Ser393Ile)
c.1193G>T (p.Ser398Ile)
Xg.41474647T>ACA412993007NYXc.1179T>A (p.Ser393Arg)
c.1194T>A (p.Ser398Arg)
 gnomAD v4
Xg.41474647T>CCA516366162NYXc.1179T>C (p.Ser393=)
c.1194T>C (p.Ser398=)
 gnomAD v4
Xg.41474647T>GCA412993008NYXc.1179T>G (p.Ser393Arg)
c.1194T>G (p.Ser398Arg)
Xg.41474648C>ACA412993011NYXc.1180C>A (p.Pro394Thr)
c.1195C>A (p.Pro399Thr)
 gnomAD v4
Xg.41474648C=CA2425928156NYXc.1180C= (p.Pro394=)
c.1195C= (p.Pro399=)
Xg.41474648C>GCA412993012NYXc.1180C>G (p.Pro394Ala)
c.1195C>G (p.Pro399Ala)
Xg.41474648C>TCA412993014NYXc.1180C>T (p.Pro394Ser)
c.1195C>T (p.Pro399Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474649C>ACA412993020NYXc.1181C>A (p.Pro394Gln)
c.1196C>A (p.Pro399Gln)
Xg.41474649C=CA2425928157NYXc.1181C= (p.Pro394=)
c.1196C= (p.Pro399=)
Xg.41474649C>GCA412993018NYXc.1181C>G (p.Pro394Arg)
c.1196C>G (p.Pro399Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474649C>TCA412993016NYXc.1181C>T (p.Pro394Leu)
c.1196C>T (p.Pro399Leu)
 gnomAD v4
Xg.41474650A>CCA516366169NYXc.1182A>C (p.Pro394=)
c.1197A>C (p.Pro399=)
Xg.41474650A>GCA516366170NYXc.1182A>G (p.Pro394=)
c.1197A>G (p.Pro399=)
 gnomAD v4
Xg.41474650A>TCA516366172NYXc.1182A>T (p.Pro394=)
c.1197A>T (p.Pro399=)
Xg.41474651G>ACA10389918NYXc.1183G>A (p.Gly395Ser)
c.1198G>A (p.Gly400Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474651G>CCA412993022NYXc.1183G>C (p.Gly395Arg)
c.1198G>C (p.Gly400Arg)
Xg.41474651G=CA2425928158NYXc.1183G= (p.Gly395=)
c.1198G= (p.Gly400=)
Xg.41474651G>TCA412993024NYXc.1183G>T (p.Gly395Cys)
c.1198G>T (p.Gly400Cys)
 gnomAD v4
Xg.41474652G>ACA412993026NYXc.1184G>A (p.Gly395Asp)
c.1199G>A (p.Gly400Asp)
 dbSNP gnomAD v2
Xg.41474652G>CCA412993028NYXc.1184G>C (p.Gly395Ala)
c.1199G>C (p.Gly400Ala)
Xg.41474652G=CA2425928159NYXc.1184G= (p.Gly395=)
c.1199G= (p.Gly400=)
Xg.41474652G>TCA412993029NYXc.1184G>T (p.Gly395Val)
c.1199G>T (p.Gly400Val)
 gnomAD v4
Xg.41474653C>ACA516366176NYXc.1185C>A (p.Gly395=)
c.1200C>A (p.Gly400=)
 gnomAD v4
Xg.41474653C>GCA516366178NYXc.1185C>G (p.Gly395=)
c.1200C>G (p.Gly400=)
Xg.41474653C>TCA516366180NYXc.1185C>T (p.Gly395=)
c.1200C>T (p.Gly400=)
 gnomAD v4
Xg.41474654C>ACA412993034NYXc.1186C>A (p.Pro396Thr)
c.1201C>A (p.Pro401Thr)
Xg.41474654C=CA2425928160NYXc.1186C= (p.Pro396=)
c.1201C= (p.Pro401=)
Xg.41474654C>GCA10389919NYXc.1186C>G (p.Pro396Ala)
c.1201C>G (p.Pro401Ala)
 dbSNP ExAC
Xg.41474654C>TCA412993032NYXc.1186C>T (p.Pro396Ser)
c.1201C>T (p.Pro401Ser)
Xg.41474655C>ACA412993036NYXc.1187C>A (p.Pro396Gln)
c.1202C>A (p.Pro401Gln)
 gnomAD v4
Xg.41474655C=CA2425928161NYXc.1187C= (p.Pro396=)
c.1202C= (p.Pro401=)
Xg.41474655C>GCA10389920NYXc.1187C>G (p.Pro396Arg)
c.1202C>G (p.Pro401Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474655C>TCA412993038NYXc.1187C>T (p.Pro396Leu)
c.1202C>T (p.Pro401Leu)
Xg.41474656G>ACA223725NYXc.1188G>A (p.Pro396=)
c.1203G>A (p.Pro401=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474656G>CCA516366186NYXc.1188G>C (p.Pro396=)
c.1203G>C (p.Pro401=)
Xg.41474656G=CA2425928162NYXc.1188G= (p.Pro396=)
c.1203G= (p.Pro401=)
Xg.41474656G>TCA516366187NYXc.1188G>T (p.Pro396=)
c.1203G>T (p.Pro401=)
 gnomAD v4
Xg.41474657T>ACA412993042NYXc.1189T>A (p.Ser397Thr)
c.1204T>A (p.Ser402Thr)
Xg.41474657T>CCA412993043NYXc.1189T>C (p.Ser397Pro)
c.1204T>C (p.Ser402Pro)
Xg.41474657T>GCA412993045NYXc.1189T>G (p.Ser397Ala)
c.1204T>G (p.Ser402Ala)
Xg.41474658C>ACA412993048NYXc.1190C>A (p.Ser397Tyr)
c.1205C>A (p.Ser402Tyr)
 gnomAD v4
Xg.41474658C=CA2425928163NYXc.1190C= (p.Ser397=)
c.1205C= (p.Ser402=)
Xg.41474658C>GCA412993050NYXc.1190C>G (p.Ser397Cys)
c.1205C>G (p.Ser402Cys)
Xg.41474658C>TCA412993051NYXc.1190C>T (p.Ser397Phe)
c.1205C>T (p.Ser402Phe)
 dbSNP gnomAD v2
Xg.41474661delCA2693491328NYXc.1193del (p.Pro398GlnfsTer8)
c.1208del (p.Pro403GlnfsTer8)
 gnomAD v4
Xg.41474658_41474659insTCA2695233447NYXc.1190_1191insT (p.Glu399ArgfsTer?)
c.1205_1206insT (p.Glu404ArgfsTer?)
Xg.41474659C>ACA516366193NYXc.1191C>A (p.Ser397=)
c.1206C>A (p.Ser402=)
 gnomAD v4
Xg.41474659C>GCA516366194NYXc.1191C>G (p.Ser397=)
c.1206C>G (p.Ser402=)
Xg.41474659C>TCA516366195NYXc.1191C>T (p.Ser397=)
c.1206C>T (p.Ser402=)
Xg.41474660C>ACA412993053NYXc.1192C>A (p.Pro398Thr)
c.1207C>A (p.Pro403Thr)
Xg.41474660C>GCA412993054NYXc.1192C>G (p.Pro398Ala)
c.1207C>G (p.Pro403Ala)
Xg.41474660C>TCA412993056NYXc.1192C>T (p.Pro398Ser)
c.1207C>T (p.Pro403Ser)
Xg.41474661C>ACA412993059NYXc.1193C>A (p.Pro398Gln)
c.1208C>A (p.Pro403Gln)
Xg.41474661C=CA2425928164NYXc.1193C= (p.Pro398=)
c.1208C= (p.Pro403=)
Xg.41474661C>GCA412993062NYXc.1193C>G (p.Pro398Arg)
c.1208C>G (p.Pro403Arg)
Xg.41474661C>TCA412993060NYXc.1193C>T (p.Pro398Leu)
c.1208C>T (p.Pro403Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.41474662A>CCA516366200NYXc.1194A>C (p.Pro398=)
c.1209A>C (p.Pro403=)
Xg.41474662A>GCA516366202NYXc.1194A>G (p.Pro398=)
c.1209A>G (p.Pro403=)
Xg.41474662A>TCA516366203NYXc.1194A>T (p.Pro398=)
c.1209A>T (p.Pro403=)
Xg.41474663G>ACA412993065NYXc.1195G>A (p.Glu399Lys)
c.1210G>A (p.Glu404Lys)
Xg.41474663G>CCA412993066NYXc.1195G>C (p.Glu399Gln)
c.1210G>C (p.Glu404Gln)
Xg.41474663G>TCA412993068NYXc.1195G>T (p.Glu399Ter)
c.1210G>T (p.Glu404Ter)
Xg.41474664A>CCA412993070NYXc.1196A>C (p.Glu399Ala)
c.1211A>C (p.Glu404Ala)
Xg.41474664A>GCA412993072NYXc.1196A>G (p.Glu399Gly)
c.1211A>G (p.Glu404Gly)
Xg.41474664A>TCA412993074NYXc.1196A>T (p.Glu399Val)
c.1211A>T (p.Glu404Val)
Xg.41474665A=CA2425928165NYXc.1197A= (p.Glu399=)
c.1212A= (p.Glu404=)
Xg.41474665A>CCA412993077NYXc.1197A>C (p.Glu399Asp)
c.1212A>C (p.Glu404Asp)
Xg.41474665A>GCA516366218NYXc.1197A>G (p.Glu399=)
c.1212A>G (p.Glu404=)
 dbSNP
Xg.41474665A>TCA412993076NYXc.1197A>T (p.Glu399Asp)
c.1212A>T (p.Glu404Asp)
Xg.41474666C>ACA412993079NYXc.1198C>A (p.Pro400Thr)
c.1213C>A (p.Pro405Thr)
Xg.41474666C>GCA412993081NYXc.1198C>G (p.Pro400Ala)
c.1213C>G (p.Pro405Ala)
Xg.41474666C>TCA412993082NYXc.1198C>T (p.Pro400Ser)
c.1213C>T (p.Pro405Ser)
Xg.41474667C>ACA412993085NYXc.1199C>A (p.Pro400Gln)
c.1214C>A (p.Pro405Gln)
 gnomAD v4
Xg.41474667C=CA2425928166NYXc.1199C= (p.Pro400=)
c.1214C= (p.Pro405=)
Xg.41474667C>GCA412993086NYXc.1199C>G (p.Pro400Arg)
c.1214C>G (p.Pro405Arg)
 dbSNP
Xg.41474667C>TCA412993088NYXc.1199C>T (p.Pro400Leu)
c.1214C>T (p.Pro405Leu)
Xg.41474668A>CCA516366230NYXc.1200A>C (p.Pro400=)
c.1215A>C (p.Pro405=)
Xg.41474668A>GCA516366228NYXc.1200A>G (p.Pro400=)
c.1215A>G (p.Pro405=)
 gnomAD v4
Xg.41474668A>TCA516366225NYXc.1200A>T (p.Pro400=)
c.1215A>T (p.Pro405=)
 gnomAD v4
Xg.41474669G>ACA412993090NYXc.1201G>A (p.Ala401Thr)
c.1216G>A (p.Ala406Thr)
Xg.41474669G>CCA412993094NYXc.1201G>C (p.Ala401Pro)
c.1216G>C (p.Ala406Pro)
Xg.41474669G>TCA412993092NYXc.1201G>T (p.Ala401Ser)
c.1216G>T (p.Ala406Ser)
Xg.41474670C>ACA412993096NYXc.1202C>A (p.Ala401Glu)
c.1217C>A (p.Ala406Glu)
 gnomAD v4
Xg.41474670C=CA2425928167NYXc.1202C= (p.Ala401=)
c.1217C= (p.Ala406=)
Xg.41474670C>GCA201701NYXc.1202C>G (p.Ala401Gly)
c.1217C>G (p.Ala406Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474670C>TCA10389921NYXc.1202C>T (p.Ala401Val)
c.1217C>T (p.Ala406Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
Xg.41474671G>ACA10389922NYXc.1203G>A (p.Ala401=)
c.1218G>A (p.Ala406=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474671G>CCA516366261NYXc.1203G>C (p.Ala401=)
c.1218G>C (p.Ala406=)
Xg.41474671G=CA2425928168NYXc.1203G= (p.Ala401=)
c.1218G= (p.Ala406=)
Xg.41474671G>TCA516366257NYXc.1203G>T (p.Ala401=)
c.1218G>T (p.Ala406=)
 gnomAD v4
Xg.41474672G>ACA412993101NYXc.1204G>A (p.Ala402Thr)
c.1219G>A (p.Ala407Thr)
Xg.41474672G>CCA412993103NYXc.1204G>C (p.Ala402Pro)
c.1219G>C (p.Ala407Pro)
Xg.41474672G>TCA412993105NYXc.1204G>T (p.Ala402Ser)
c.1219G>T (p.Ala407Ser)
 gnomAD v4
Xg.41474673C>ACA412993106NYXc.1205C>A (p.Ala402Asp)
c.1220C>A (p.Ala407Asp)
 gnomAD v4
Xg.41474673C=CA2425928169NYXc.1205C= (p.Ala402=)
c.1220C= (p.Ala407=)
Xg.41474673C>GCA412993108NYXc.1205C>G (p.Ala402Gly)
c.1220C>G (p.Ala407Gly)
Xg.41474673C>TCA10389923NYXc.1205C>T (p.Ala402Val)
c.1220C>T (p.Ala407Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474674C>ACA516366267NYXc.1206C>A (p.Ala402=)
c.1221C>A (p.Ala407=)
 gnomAD v4
Xg.41474674C>GCA516366269NYXc.1206C>G (p.Ala402=)
c.1221C>G (p.Ala407=)
Xg.41474674C>TCA516366271NYXc.1206C>T (p.Ala402=)
c.1221C>T (p.Ala407=)
Xg.41474675A>CCA412993114NYXc.1207A>C (p.Thr403Pro)
c.1222A>C (p.Thr408Pro)
Xg.41474675A>GCA412993112NYXc.1207A>G (p.Thr403Ala)
c.1222A>G (p.Thr408Ala)
Xg.41474675A>TCA412993110NYXc.1207A>T (p.Thr403Ser)
c.1222A>T (p.Thr408Ser)
Xg.41474676C>ACA412993116NYXc.1208C>A (p.Thr403Asn)
c.1223C>A (p.Thr408Asn)
Xg.41474676C>GCA412993120NYXc.1208C>G (p.Thr403Ser)
c.1223C>G (p.Thr408Ser)
Xg.41474676C>TCA412993118NYXc.1208C>T (p.Thr403Ile)
c.1223C>T (p.Thr408Ile)
Xg.41474677C>ACA516366285NYXc.1209C>A (p.Thr403=)
c.1224C>A (p.Thr408=)
 gnomAD v4
Xg.41474677C>GCA516366287NYXc.1209C>G (p.Thr403=)
c.1224C>G (p.Thr408=)
Xg.41474677C>TCA516366292NYXc.1209C>T (p.Thr403=)
c.1224C>T (p.Thr408=)
Xg.41474678A>CCA412993122NYXc.1210A>C (p.Thr404Pro)
c.1225A>C (p.Thr409Pro)
Xg.41474678A>GCA412993125NYXc.1210A>G (p.Thr404Ala)
c.1225A>G (p.Thr409Ala)
Xg.41474678A>TCA412993123NYXc.1210A>T (p.Thr404Ser)
c.1225A>T (p.Thr409Ser)
Xg.41474679C>ACA412993128NYXc.1211C>A (p.Thr404Asn)
c.1226C>A (p.Thr409Asn)
Xg.41474679C=CA2425928170NYXc.1211C= (p.Thr404=)
c.1226C= (p.Thr409=)
Xg.41474679C>GCA412993130NYXc.1211C>G (p.Thr404Ser)
c.1226C>G (p.Thr409Ser)
Xg.41474679C>TCA329217085NYXc.1211C>T (p.Thr404Ile)
c.1226C>T (p.Thr409Ile)
 dbSNP gnomAD v4
Xg.41474680C>ACA516366299NYXc.1212C>A (p.Thr404=)
c.1227C>A (p.Thr409=)
 gnomAD v4
Xg.41474680C=CA2425928171NYXc.1212C= (p.Thr404=)
c.1227C= (p.Thr409=)
Xg.41474680C>GCA516366301NYXc.1212C>G (p.Thr404=)
c.1227C>G (p.Thr409=)
 dbSNP gnomAD v3 gnomAD v4
Xg.41474680C>TCA10389924NYXc.1212C>T (p.Thr404=)
c.1227C>T (p.Thr409=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474681G>ACA412993135NYXc.1213G>A (p.Val405Met)
c.1228G>A (p.Val410Met)
 ClinVar gnomAD v4
Xg.41474681G>CCA412993133NYXc.1213G>C (p.Val405Leu)
c.1228G>C (p.Val410Leu)
Xg.41474681G>TCA412993134NYXc.1213G>T (p.Val405Leu)
c.1228G>T (p.Val410Leu)
Xg.41474682T>ACA412993137NYXc.1214T>A (p.Val405Glu)
c.1229T>A (p.Val410Glu)
Xg.41474682T>CCA412993139NYXc.1214T>C (p.Val405Ala)
c.1229T>C (p.Val410Ala)
Xg.41474682T>GCA412993140NYXc.1214T>G (p.Val405Gly)
c.1229T>G (p.Val410Gly)
Xg.41474683delCA2820585903NYXc.1215del (p.Ser406AlafsTer?)
c.1230del (p.Ser411AlafsTer?)
Xg.41474683G>ACA516366308NYXc.1215G>A (p.Val405=)
c.1230G>A (p.Val410=)
 dbSNP gnomAD v2
Xg.41474683G>CCA516366309NYXc.1215G>C (p.Val405=)
c.1230G>C (p.Val410=)
Xg.41474683G=CA2425928172NYXc.1215G= (p.Val405=)
c.1230G= (p.Val410=)
Xg.41474683G>TCA516366310NYXc.1215G>T (p.Val405=)
c.1230G>T (p.Val410=)
 gnomAD v4
Xg.41474684A=CA2425928173NYXc.1216A= (p.Ser406=)
c.1231A= (p.Ser411=)
Xg.41474684A>CCA412993142NYXc.1216A>C (p.Ser406Arg)
c.1231A>C (p.Ser411Arg)
Xg.41474684A>GCA10389925NYXc.1216A>G (p.Ser406Gly)
c.1231A>G (p.Ser411Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474684A>TCA412993144NYXc.1216A>T (p.Ser406Cys)
c.1231A>T (p.Ser411Cys)
Xg.41474685G>ACA412993147NYXc.1217G>A (p.Ser406Asn)
c.1232G>A (p.Ser411Asn)
Xg.41474685G>CCA412993148NYXc.1217G>C (p.Ser406Thr)
c.1232G>C (p.Ser411Thr)
Xg.41474685G>TCA412993150NYXc.1217G>T (p.Ser406Ile)
c.1232G>T (p.Ser411Ile)
 gnomAD v4
Xg.41474686C>ACA412993152NYXc.1218C>A (p.Ser406Arg)
c.1233C>A (p.Ser411Arg)
Xg.41474686C=CA2425928174NYXc.1218C= (p.Ser406=)
c.1233C= (p.Ser411=)
Xg.41474686C>GCA412993154NYXc.1218C>G (p.Ser406Arg)
c.1233C>G (p.Ser411Arg)
 ClinVar dbSNP gnomAD v4
Xg.41474686C>TCA516366333NYXc.1218C>T (p.Ser406=)
c.1233C>T (p.Ser411=)
 gnomAD v4
Xg.41474687A>CCA516366341NYXc.1219A>C (p.Arg407=)
c.1234A>C (p.Arg412=)
Xg.41474687A>GCA412993155NYXc.1219A>G (p.Arg407Gly)
c.1234A>G (p.Arg412Gly)
Xg.41474687A>TCA412993157NYXc.1219A>T (p.Arg407Trp)
c.1234A>T (p.Arg412Trp)
Xg.41474688G>ACA412993159NYXc.1220G>A (p.Arg407Lys)
c.1235G>A (p.Arg412Lys)
 ClinVar dbSNP
Xg.41474688G>CCA412993161NYXc.1220G>C (p.Arg407Thr)
c.1235G>C (p.Arg412Thr)
Xg.41474688G>TCA412993163NYXc.1220G>T (p.Arg407Met)
c.1235G>T (p.Arg412Met)
 gnomAD v4
Xg.41474689G>ACA516366344NYXc.1221G>A (p.Arg407=)
c.1236G>A (p.Arg412=)
Xg.41474689G>CCA412993164NYXc.1221G>C (p.Arg407Ser)
c.1236G>C (p.Arg412Ser)
Xg.41474689G>TCA412993166NYXc.1221G>T (p.Arg407Ser)
c.1236G>T (p.Arg412Ser)
Xg.41474690T>ACA412993168NYXc.1222T>A (p.Phe408Ile)
c.1237T>A (p.Phe413Ile)
Xg.41474690T>CCA412993170NYXc.1222T>C (p.Phe408Leu)
c.1237T>C (p.Phe413Leu)
Xg.41474690T>GCA412993171NYXc.1222T>G (p.Phe408Val)
c.1237T>G (p.Phe413Val)
Xg.41474691T>ACA412993174NYXc.1223T>A (p.Phe408Tyr)
c.1238T>A (p.Phe413Tyr)
Xg.41474691T>CCA412993175NYXc.1223T>C (p.Phe408Ser)
c.1238T>C (p.Phe413Ser)
Xg.41474691T>GCA412993176NYXc.1223T>G (p.Phe408Cys)
c.1238T>G (p.Phe413Cys)
Xg.41474691_41474694delinsTCAGCA2425928175NYXc.1223_1226delinsTCAG (p.Phe408=)
c.1238_1241delinsTCAG (p.Phe413=)
Xg.41474692C>ACA412993182NYXc.1224C>A (p.Phe408Leu)
c.1239C>A (p.Phe413Leu)
 gnomAD v4
Xg.41474692C>GCA412993180NYXc.1224C>G (p.Phe408Leu)
c.1239C>G (p.Phe413Leu)
 gnomAD v4
Xg.41474692C>TCA516366355NYXc.1224C>T (p.Phe408=)
c.1239C>T (p.Phe413=)
 gnomAD v4
Xg.41474696_41474698delCA10389926NYXc.1228_1230del (p.Ser410del)
c.1243_1245del (p.Ser415del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474693A>CCA412993184NYXc.1225A>C (p.Ser409Arg)
c.1240A>C (p.Ser414Arg)
Xg.41474693A>GCA412993185NYXc.1225A>G (p.Ser409Gly)
c.1240A>G (p.Ser414Gly)
 gnomAD v4
Xg.41474693A>TCA412993187NYXc.1225A>T (p.Ser409Cys)
c.1240A>T (p.Ser414Cys)
Xg.41474694G>ACA412993190NYXc.1226G>A (p.Ser409Asn)
c.1241G>A (p.Ser414Asn)
 gnomAD v4
Xg.41474694G>CCA412993191NYXc.1226G>C (p.Ser409Thr)
c.1241G>C (p.Ser414Thr)
Xg.41474694G=CA2425928176NYXc.1226G= (p.Ser409=)
c.1241G= (p.Ser414=)
Xg.41474694G>TCA10389927NYXc.1226G>T (p.Ser409Ile)
c.1241G>T (p.Ser414Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474695C>ACA412993194NYXc.1227C>A (p.Ser409Arg)
c.1242C>A (p.Ser414Arg)
 gnomAD v4
Xg.41474695C>GCA412993196NYXc.1227C>G (p.Ser409Arg)
c.1242C>G (p.Ser414Arg)
Xg.41474695C>TCA516366370NYXc.1227C>T (p.Ser409=)
c.1242C>T (p.Ser414=)
 gnomAD v4
Xg.41474696A>CCA412993198NYXc.1228A>C (p.Ser410Arg)
c.1243A>C (p.Ser415Arg)
Xg.41474696A>GCA412993200NYXc.1228A>G (p.Ser410Gly)
c.1243A>G (p.Ser415Gly)
Xg.41474696A>TCA412993202NYXc.1228A>T (p.Ser410Cys)
c.1243A>T (p.Ser415Cys)
Xg.41474697G>ACA10389928NYXc.1229G>A (p.Ser410Asn)
c.1244G>A (p.Ser415Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474697G>CCA412993207NYXc.1229G>C (p.Ser410Thr)
c.1244G>C (p.Ser415Thr)
Xg.41474697G=CA2425928177NYXc.1229G= (p.Ser410=)
c.1244G= (p.Ser415=)
Xg.41474697G>TCA412993204NYXc.1229G>T (p.Ser410Ile)
c.1244G>T (p.Ser415Ile)
 gnomAD v4
Xg.41474698C>ACA412993211NYXc.1230C>A (p.Ser410Arg)
c.1245C>A (p.Ser415Arg)
 gnomAD v4
Xg.41474698C=CA2425928178NYXc.1230C= (p.Ser410=)
c.1245C= (p.Ser415=)
Xg.41474698C>GCA412993212NYXc.1230C>G (p.Ser410Arg)
c.1245C>G (p.Ser415Arg)
 gnomAD v4
Xg.41474698C>TCA10389929NYXc.1230C>T (p.Ser410=)
c.1245C>T (p.Ser415=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474699C>ACA412993215NYXc.1231C>A (p.Leu411Ile)
c.1246C>A (p.Leu416Ile)
 gnomAD v4
Xg.41474699C>GCA412993217NYXc.1231C>G (p.Leu411Val)
c.1246C>G (p.Leu416Val)
Xg.41474699C>TCA412993219NYXc.1231C>T (p.Leu411Phe)
c.1246C>T (p.Leu416Phe)
 gnomAD v4
Xg.41474701_41474715delCA2693491329NYXc.1233_1247del (p.Leu412_Leu416del)
c.1248_1262del (p.Leu417_Leu421del)
 gnomAD v4
Xg.41474700T>ACA412993222NYXc.1232T>A (p.Leu411His)
c.1247T>A (p.Leu416His)
Xg.41474700T>CCA412993223NYXc.1232T>C (p.Leu411Pro)
c.1247T>C (p.Leu416Pro)
Xg.41474700T>GCA412993224NYXc.1232T>G (p.Leu411Arg)
c.1247T>G (p.Leu416Arg)
Xg.41474701C>ACA516366391NYXc.1233C>A (p.Leu411=)
c.1248C>A (p.Leu416=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474701C=CA2425928179NYXc.1233C= (p.Leu411=)
c.1248C= (p.Leu416=)
Xg.41474701C>GCA516366393NYXc.1233C>G (p.Leu411=)
c.1248C>G (p.Leu416=)
 gnomAD v4 COSMIC
Xg.41474701C>TCA516366395NYXc.1233C>T (p.Leu411=)
c.1248C>T (p.Leu416=)
 dbSNP gnomAD v4
Xg.41474702C>ACA412993225NYXc.1234C>A (p.Leu412Ile)
c.1249C>A (p.Leu417Ile)
Xg.41474702C=CA2425928180NYXc.1234C= (p.Leu412=)
c.1249C= (p.Leu417=)
Xg.41474702C>GCA10389930NYXc.1234C>G (p.Leu412Val)
c.1249C>G (p.Leu417Val)
 dbSNP ExAC gnomAD v2
Xg.41474702C>TCA329217086NYXc.1234C>T (p.Leu412Phe)
c.1249C>T (p.Leu417Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.41474703T>ACA412993238NYXc.1235T>A (p.Leu412His)
c.1250T>A (p.Leu417His)
Xg.41474703T>CCA412993234NYXc.1235T>C (p.Leu412Pro)
c.1250T>C (p.Leu417Pro)
 gnomAD v4
Xg.41474703T>GCA412993232NYXc.1235T>G (p.Leu412Arg)
c.1250T>G (p.Leu417Arg)
 gnomAD v4
Xg.41474704C>ACA516366417NYXc.1236C>A (p.Leu412=)
c.1251C>A (p.Leu417=)
 gnomAD v4
Xg.41474704C=CA2425928181NYXc.1236C= (p.Leu412=)
c.1251C= (p.Leu417=)
Xg.41474704C>GCA516366421NYXc.1236C>G (p.Leu412=)
c.1251C>G (p.Leu417=)
Xg.41474704C>TCA10389931NYXc.1236C>T (p.Leu412=)
c.1251C>T (p.Leu417=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474705T>ACA412993246NYXc.1237T>A (p.Ser413Thr)
c.1252T>A (p.Ser418Thr)
 gnomAD v4
Xg.41474705T>CCA412993266NYXc.1237T>C (p.Ser413Pro)
c.1252T>C (p.Ser418Pro)
Xg.41474705T>GCA412993269NYXc.1237T>G (p.Ser413Ala)
c.1252T>G (p.Ser418Ala)
Xg.41474706C>ACA412993273NYXc.1238C>A (p.Ser413Tyr)
c.1253C>A (p.Ser418Tyr)
 dbSNP
Xg.41474706C=CA2425928182NYXc.1238C= (p.Ser413=)
c.1253C= (p.Ser418=)
Xg.41474706C>GCA10389932NYXc.1238C>G (p.Ser413Cys)
c.1253C>G (p.Ser418Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474706C>TCA412993280NYXc.1238C>T (p.Ser413Phe)
c.1253C>T (p.Ser418Phe)
Xg.41474707C>ACA516366431NYXc.1239C>A (p.Ser413=)
c.1254C>A (p.Ser418=)
Xg.41474707C>GCA516366430NYXc.1239C>G (p.Ser413=)
c.1254C>G (p.Ser418=)
Xg.41474707C>TCA516366429NYXc.1239C>T (p.Ser413=)
c.1254C>T (p.Ser418=)
Xg.41474708A=CA2425928183NYXc.1240A= (p.Lys414=)
c.1255A= (p.Lys419=)
Xg.41474708A>CCA412993283NYXc.1240A>C (p.Lys414Gln)
c.1255A>C (p.Lys419Gln)
Xg.41474708A>GCA412993285NYXc.1240A>G (p.Lys414Glu)
c.1255A>G (p.Lys419Glu)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474708A>TCA412993288NYXc.1240A>T (p.Lys414Ter)
c.1255A>T (p.Lys419Ter)
Xg.41474708_41474709insGCA2820585906NYXc.1240_1241insG (p.Lys414ArgfsTer?)
c.1255_1256insG (p.Lys419ArgfsTer?)
Xg.41474709A>CCA412993292NYXc.1241A>C (p.Lys414Thr)
c.1256A>C (p.Lys419Thr)
Xg.41474709A>GCA412993294NYXc.1241A>G (p.Lys414Arg)
c.1256A>G (p.Lys419Arg)
Xg.41474709A>TCA412993302NYXc.1241A>T (p.Lys414Met)
c.1256A>T (p.Lys419Met)
Xg.41474710G>ACA516366445NYXc.1242G>A (p.Lys414=)
c.1257G>A (p.Lys419=)
 gnomAD v4
Xg.41474710G>CCA412993305NYXc.1242G>C (p.Lys414Asn)
c.1257G>C (p.Lys419Asn)
Xg.41474710G=CA2425928184NYXc.1242G= (p.Lys414=)
c.1257G= (p.Lys419=)
Xg.41474710G>TCA412993306NYXc.1242G>T (p.Lys414Asn)
c.1257G>T (p.Lys419Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.41474711C>ACA412993309NYXc.1243C>A (p.Leu415Met)
c.1258C>A (p.Leu420Met)
 gnomAD v4
Xg.41474711C=CA2425928185NYXc.1243C= (p.Leu415=)
c.1258C= (p.Leu420=)
Xg.41474711C>GCA412993312NYXc.1243C>G (p.Leu415Val)
c.1258C>G (p.Leu420Val)
Xg.41474711C>TCA516366450NYXc.1243C>T (p.Leu415=)
c.1258C>T (p.Leu420=)
 dbSNP gnomAD v4
Xg.41474712T>ACA412993315NYXc.1244T>A (p.Leu415Gln)
c.1259T>A (p.Leu420Gln)
Xg.41474712T>CCA412993318NYXc.1244T>C (p.Leu415Pro)
c.1259T>C (p.Leu420Pro)
Xg.41474712T>GCA412993321NYXc.1244T>G (p.Leu415Arg)
c.1259T>G (p.Leu420Arg)
Xg.41474713G>ACA516366458NYXc.1245G>A (p.Leu415=)
c.1260G>A (p.Leu420=)
 gnomAD v4
Xg.41474713G>CCA516366460NYXc.1245G>C (p.Leu415=)
c.1260G>C (p.Leu420=)
Xg.41474713G=CA2425928186NYXc.1245G= (p.Leu415=)
c.1260G= (p.Leu420=)
Xg.41474713G>TCA516366459NYXc.1245G>T (p.Leu415=)
c.1260G>T (p.Leu420=)
 ClinVar dbSNP gnomAD v4
Xg.41474714C>ACA412993324NYXc.1246C>A (p.Leu416Met)
c.1261C>A (p.Leu421Met)
 gnomAD v4
Xg.41474714C=CA2425928187NYXc.1246C= (p.Leu416=)
c.1261C= (p.Leu421=)
Xg.41474714C>GCA412993327NYXc.1246C>G (p.Leu416Val)
c.1261C>G (p.Leu421Val)
Xg.41474714C>TCA516366469NYXc.1246C>T (p.Leu416=)
c.1261C>T (p.Leu421=)
 dbSNP gnomAD v4
Xg.41474714_41474715dupCA915951045NYXc.1246_1247dup (p.Ala417TrpfsTer?)
c.1261_1262dup (p.Ala422TrpfsTer?)
 ClinVar dbSNP
Xg.41474715T>ACA412993331NYXc.1247T>A (p.Leu416Gln)
c.1262T>A (p.Leu421Gln)
 COSMIC
Xg.41474715T>CCA412993334NYXc.1247T>C (p.Leu416Pro)
c.1262T>C (p.Leu421Pro)
Xg.41474715T>GCA412993336NYXc.1247T>G (p.Leu416Arg)
c.1262T>G (p.Leu421Arg)
Xg.41474716G>ACA10389933NYXc.1248G>A (p.Leu416=)
c.1263G>A (p.Leu421=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474716G>CCA516366473NYXc.1248G>C (p.Leu416=)
c.1263G>C (p.Leu421=)
Xg.41474716G=CA2425928188NYXc.1248G= (p.Leu416=)
c.1263G= (p.Leu421=)
Xg.41474716G>TCA516366477NYXc.1248G>T (p.Leu416=)
c.1263G>T (p.Leu421=)
Xg.41474717G>ACA412993339NYXc.1249G>A (p.Ala417Thr)
c.1264G>A (p.Ala422Thr)
 gnomAD v4
Xg.41474717G>CCA412993341NYXc.1249G>C (p.Ala417Pro)
c.1264G>C (p.Ala422Pro)
Xg.41474717G>TCA412993343NYXc.1249G>T (p.Ala417Ser)
c.1264G>T (p.Ala422Ser)
Xg.41474718C>ACA412993345NYXc.1250C>A (p.Ala417Asp)
c.1265C>A (p.Ala422Asp)
 gnomAD v4
Xg.41474718C>GCA412993348NYXc.1250C>G (p.Ala417Gly)
c.1265C>G (p.Ala422Gly)
Xg.41474718C>TCA412993347NYXc.1250C>T (p.Ala417Val)
c.1265C>T (p.Ala422Val)
 gnomAD v4
Xg.41474719C>ACA516366489NYXc.1251C>A (p.Ala417=)
c.1266C>A (p.Ala422=)
Xg.41474719C=CA2425928189NYXc.1251C= (p.Ala417=)
c.1266C= (p.Ala422=)
Xg.41474719C>GCA516366490NYXc.1251C>G (p.Ala417=)
c.1266C>G (p.Ala422=)
 gnomAD v4
Xg.41474719C>TCA10389934NYXc.1251C>T (p.Ala417=)
c.1266C>T (p.Ala422=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474720C>ACA412993351NYXc.1252C>A (p.Pro418Thr)
c.1267C>A (p.Pro423Thr)
 gnomAD v4
Xg.41474720C>GCA412993353NYXc.1252C>G (p.Pro418Ala)
c.1267C>G (p.Pro423Ala)
Xg.41474720C>TCA412993354NYXc.1252C>T (p.Pro418Ser)
c.1267C>T (p.Pro423Ser)
Xg.41474721C>ACA412993356NYXc.1253C>A (p.Pro418Gln)
c.1268C>A (p.Pro423Gln)
 gnomAD v4
Xg.41474721C=CA2425928190NYXc.1253C= (p.Pro418=)
c.1268C= (p.Pro423=)
Xg.41474721C>GCA412993358NYXc.1253C>G (p.Pro418Arg)
c.1268C>G (p.Pro423Arg)
 dbSNP
Xg.41474721C>TCA412993360NYXc.1253C>T (p.Pro418Leu)
c.1268C>T (p.Pro423Leu)
 ClinVar gnomAD v4

Number of alleles fetched