Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.32293464_32293598delCA2770535164TSBP1,TSBP1-AS1c.1111_1245del (p.Met371_Glu415del)
c.1114_1248del (p.Met372_Glu416del)
c.1090_1224del (p.Met364_Glu408del)
c.1117_1251del (p.Met373_Glu417del)
c.1069_1203del (p.Met357_Glu401del)
c.1102_1236del (p.Met368_Glu412del)
c.1171_1305del (p.Met391_Glu435del)
c.1150_1284del (p.Met384_Glu428del)
c.1147_1281del (p.Met383_Glu427del)
c.1129_1263del (p.Met377_Glu421del)
c.1093_1227del (p.Met365_Glu409del)
c.1072_1206del (p.Met358_Glu402del)
c.421+30655_421+30789del (n.421+30655_421+30789del)
n.440+30655_440+30789del
n.242+38050_242+38184del
c.835_969del (p.Met279_Glu323del)
c.1249_1383del (p.Met417_Glu461del)
6g.32293433_32293478delinsCTACCTGGGCTTCCTGTCCTTTCAGTACAACTGACTCCCTCTTCTTCA1619500830TSBP1,TSBP1-AS1c.1189_1234delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys397=)
c.1192_1237delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys398=)
c.1168_1213delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys390=)
c.1195_1240delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys399=)
c.1147_1192delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys383=)
c.1180_1225delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys394=)
c.1249_1294delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys417=)
c.1228_1273delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys410=)
c.1225_1270delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys409=)
c.1207_1252delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys403=)
c.1171_1216delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys391=)
c.1150_1195delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys384=)
c.421+30624_421+30669delinsCTACCTGGGCTTCCTGTCCTTTCAGTACAACTGACTCCCTCTTCTT (n.421+30624_421+30669delinsCTACCTGGGCTTCCTGTCCTTTCAGTACAACTGACTCCCTCTTCTT)
n.440+30624_440+30669delinsCTACCTGGGCTTCCTGTCCTTTCAGTACAACTGACTCCCTCTTCTT
n.242+38019_242+38064delinsCTACCTGGGCTTCCTGTCCTTTCAGTACAACTGACTCCCTCTTCTT
c.913_958delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys305=)
c.1327_1372delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys443=)
6g.32293452_32293496delCA823938686TSBP1,TSBP1-AS1c.1189_1233del (p.Lys397_Val411del)
c.1192_1236del (p.Lys398_Val412del)
c.1168_1212del (p.Lys390_Val404del)
c.1195_1239del (p.Lys399_Val413del)
c.1147_1191del (p.Lys383_Val397del)
c.1180_1224del (p.Lys394_Val408del)
c.1249_1293del (p.Lys417_Val431del)
c.1228_1272del (p.Lys410_Val424del)
c.1225_1269del (p.Lys409_Val423del)
c.1207_1251del (p.Lys403_Val417del)
c.1171_1215del (p.Lys391_Val405del)
c.1150_1194del (p.Lys384_Val398del)
c.421+30643_421+30687del (n.421+30643_421+30687del)
n.440+30643_440+30687del
n.242+38038_242+38082del
c.913_957del (p.Lys305_Val319del)
c.1327_1371del (p.Lys443_Val457del)
 dbSNP
6g.32293452T>ACA363561668TSBP1,TSBP1-AS1c.1215A>T (p.Lys405Asn)
c.1218A>T (p.Lys406Asn)
c.1194A>T (p.Lys398Asn)
c.1221A>T (p.Lys407Asn)
c.1173A>T (p.Lys391Asn)
c.1206A>T (p.Lys402Asn)
c.1275A>T (p.Lys425Asn)
c.1254A>T (p.Lys418Asn)
c.1251A>T (p.Lys417Asn)
c.1233A>T (p.Lys411Asn)
c.1197A>T (p.Lys399Asn)
c.1176A>T (p.Lys392Asn)
c.421+30643T>A (n.421+30643T>A)
n.440+30643T>A
n.242+38038T>A
c.939A>T (p.Lys313Asn)
c.1353A>T (p.Lys451Asn)
 gnomAD v4
6g.32293452T>CCA449829753TSBP1,TSBP1-AS1c.1215A>G (p.Lys405=)
c.1218A>G (p.Lys406=)
c.1194A>G (p.Lys398=)
c.1221A>G (p.Lys407=)
c.1173A>G (p.Lys391=)
c.1206A>G (p.Lys402=)
c.1275A>G (p.Lys425=)
c.1254A>G (p.Lys418=)
c.1251A>G (p.Lys417=)
c.1233A>G (p.Lys411=)
c.1197A>G (p.Lys399=)
c.1176A>G (p.Lys392=)
c.421+30643T>C (n.421+30643T>C)
n.440+30643T>C
n.242+38038T>C
c.939A>G (p.Lys313=)
c.1353A>G (p.Lys451=)
6g.32293452T>GCA363561669TSBP1,TSBP1-AS1c.1215A>C (p.Lys405Asn)
c.1218A>C (p.Lys406Asn)
c.1194A>C (p.Lys398Asn)
c.1221A>C (p.Lys407Asn)
c.1173A>C (p.Lys391Asn)
c.1206A>C (p.Lys402Asn)
c.1275A>C (p.Lys425Asn)
c.1254A>C (p.Lys418Asn)
c.1251A>C (p.Lys417Asn)
c.1233A>C (p.Lys411Asn)
c.1197A>C (p.Lys399Asn)
c.1176A>C (p.Lys392Asn)
c.421+30643T>G (n.421+30643T>G)
n.440+30643T>G
n.242+38038T>G
c.939A>C (p.Lys313Asn)
c.1353A>C (p.Lys451Asn)
6g.32293453T>ACA363561670TSBP1,TSBP1-AS1c.1214A>T (p.Lys405Ile)
c.1217A>T (p.Lys406Ile)
c.1193A>T (p.Lys398Ile)
c.1220A>T (p.Lys407Ile)
c.1172A>T (p.Lys391Ile)
c.1205A>T (p.Lys402Ile)
c.1274A>T (p.Lys425Ile)
c.1253A>T (p.Lys418Ile)
c.1250A>T (p.Lys417Ile)
c.1232A>T (p.Lys411Ile)
c.1196A>T (p.Lys399Ile)
c.1175A>T (p.Lys392Ile)
c.421+30644T>A (n.421+30644T>A)
n.440+30644T>A
n.242+38039T>A
c.938A>T (p.Lys313Ile)
c.1352A>T (p.Lys451Ile)
6g.32293453T>CCA363561671TSBP1,TSBP1-AS1c.1214A>G (p.Lys405Arg)
c.1217A>G (p.Lys406Arg)
c.1193A>G (p.Lys398Arg)
c.1220A>G (p.Lys407Arg)
c.1172A>G (p.Lys391Arg)
c.1205A>G (p.Lys402Arg)
c.1274A>G (p.Lys425Arg)
c.1253A>G (p.Lys418Arg)
c.1250A>G (p.Lys417Arg)
c.1232A>G (p.Lys411Arg)
c.1196A>G (p.Lys399Arg)
c.1175A>G (p.Lys392Arg)
c.421+30644T>C (n.421+30644T>C)
n.440+30644T>C
n.242+38039T>C
c.938A>G (p.Lys313Arg)
c.1352A>G (p.Lys451Arg)
6g.32293453T>GCA363561672TSBP1,TSBP1-AS1c.1214A>C (p.Lys405Thr)
c.1217A>C (p.Lys406Thr)
c.1193A>C (p.Lys398Thr)
c.1220A>C (p.Lys407Thr)
c.1172A>C (p.Lys391Thr)
c.1205A>C (p.Lys402Thr)
c.1274A>C (p.Lys425Thr)
c.1253A>C (p.Lys418Thr)
c.1250A>C (p.Lys417Thr)
c.1232A>C (p.Lys411Thr)
c.1196A>C (p.Lys399Thr)
c.1175A>C (p.Lys392Thr)
c.421+30644T>G (n.421+30644T>G)
n.440+30644T>G
n.242+38039T>G
c.938A>C (p.Lys313Thr)
c.1352A>C (p.Lys451Thr)
6g.32293454T>ACA363561674TSBP1,TSBP1-AS1c.1213A>T (p.Lys405Ter)
c.1216A>T (p.Lys406Ter)
c.1192A>T (p.Lys398Ter)
c.1219A>T (p.Lys407Ter)
c.1171A>T (p.Lys391Ter)
c.1204A>T (p.Lys402Ter)
c.1273A>T (p.Lys425Ter)
c.1252A>T (p.Lys418Ter)
c.1249A>T (p.Lys417Ter)
c.1231A>T (p.Lys411Ter)
c.1195A>T (p.Lys399Ter)
c.1174A>T (p.Lys392Ter)
c.421+30645T>A (n.421+30645T>A)
n.440+30645T>A
n.242+38040T>A
c.937A>T (p.Lys313Ter)
c.1351A>T (p.Lys451Ter)
6g.32293454T>CCA363561675TSBP1,TSBP1-AS1c.1213A>G (p.Lys405Glu)
c.1216A>G (p.Lys406Glu)
c.1192A>G (p.Lys398Glu)
c.1219A>G (p.Lys407Glu)
c.1171A>G (p.Lys391Glu)
c.1204A>G (p.Lys402Glu)
c.1273A>G (p.Lys425Glu)
c.1252A>G (p.Lys418Glu)
c.1249A>G (p.Lys417Glu)
c.1231A>G (p.Lys411Glu)
c.1195A>G (p.Lys399Glu)
c.1174A>G (p.Lys392Glu)
c.421+30645T>C (n.421+30645T>C)
n.440+30645T>C
n.242+38040T>C
c.937A>G (p.Lys313Glu)
c.1351A>G (p.Lys451Glu)
 gnomAD v4
6g.32293454T>GCA363561673TSBP1,TSBP1-AS1c.1213A>C (p.Lys405Gln)
c.1216A>C (p.Lys406Gln)
c.1192A>C (p.Lys398Gln)
c.1219A>C (p.Lys407Gln)
c.1171A>C (p.Lys391Gln)
c.1204A>C (p.Lys402Gln)
c.1273A>C (p.Lys425Gln)
c.1252A>C (p.Lys418Gln)
c.1249A>C (p.Lys417Gln)
c.1231A>C (p.Lys411Gln)
c.1195A>C (p.Lys399Gln)
c.1174A>C (p.Lys392Gln)
c.421+30645T>G (n.421+30645T>G)
n.440+30645T>G
n.242+38040T>G
c.937A>C (p.Lys313Gln)
c.1351A>C (p.Lys451Gln)
6g.32293455C>ACA449829754TSBP1,TSBP1-AS1c.1212G>T (p.Leu404=)
c.1215G>T (p.Leu405=)
c.1191G>T (p.Leu397=)
c.1218G>T (p.Leu406=)
c.1170G>T (p.Leu390=)
c.1203G>T (p.Leu401=)
c.1272G>T (p.Leu424=)
c.1251G>T (p.Leu417=)
c.1248G>T (p.Leu416=)
c.1230G>T (p.Leu410=)
c.1194G>T (p.Leu398=)
c.1173G>T (p.Leu391=)
c.421+30646C>A (n.421+30646C>A)
n.440+30646C>A
n.242+38041C>A
c.936G>T (p.Leu312=)
c.1350G>T (p.Leu450=)
6g.32293455C>GCA449829756TSBP1,TSBP1-AS1c.1212G>C (p.Leu404=)
c.1215G>C (p.Leu405=)
c.1191G>C (p.Leu397=)
c.1218G>C (p.Leu406=)
c.1170G>C (p.Leu390=)
c.1203G>C (p.Leu401=)
c.1272G>C (p.Leu424=)
c.1251G>C (p.Leu417=)
c.1248G>C (p.Leu416=)
c.1230G>C (p.Leu410=)
c.1194G>C (p.Leu398=)
c.1173G>C (p.Leu391=)
c.421+30646C>G (n.421+30646C>G)
n.440+30646C>G
n.242+38041C>G
c.936G>C (p.Leu312=)
c.1350G>C (p.Leu450=)
6g.32293455C>TCA449829755TSBP1,TSBP1-AS1c.1212G>A (p.Leu404=)
c.1215G>A (p.Leu405=)
c.1191G>A (p.Leu397=)
c.1218G>A (p.Leu406=)
c.1170G>A (p.Leu390=)
c.1203G>A (p.Leu401=)
c.1272G>A (p.Leu424=)
c.1251G>A (p.Leu417=)
c.1248G>A (p.Leu416=)
c.1230G>A (p.Leu410=)
c.1194G>A (p.Leu398=)
c.1173G>A (p.Leu391=)
c.421+30646C>T (n.421+30646C>T)
n.440+30646C>T
n.242+38041C>T
c.936G>A (p.Leu312=)
c.1350G>A (p.Leu450=)
6g.32293456A=CA1619500832TSBP1,TSBP1-AS1c.1211T= (p.Leu404=)
c.1214T= (p.Leu405=)
c.1190T= (p.Leu397=)
c.1217T= (p.Leu406=)
c.1169T= (p.Leu390=)
c.1202T= (p.Leu401=)
c.1271T= (p.Leu424=)
c.1250T= (p.Leu417=)
c.1247T= (p.Leu416=)
c.1229T= (p.Leu410=)
c.1193T= (p.Leu398=)
c.1172T= (p.Leu391=)
c.421+30647A= (n.421+30647A=)
n.440+30647A=
n.242+38042A=
c.935T= (p.Leu312=)
c.1349T= (p.Leu450=)
6g.32293456A>CCA363561676TSBP1,TSBP1-AS1c.1211T>G (p.Leu404Arg)
c.1214T>G (p.Leu405Arg)
c.1190T>G (p.Leu397Arg)
c.1217T>G (p.Leu406Arg)
c.1169T>G (p.Leu390Arg)
c.1202T>G (p.Leu401Arg)
c.1271T>G (p.Leu424Arg)
c.1250T>G (p.Leu417Arg)
c.1247T>G (p.Leu416Arg)
c.1229T>G (p.Leu410Arg)
c.1193T>G (p.Leu398Arg)
c.1172T>G (p.Leu391Arg)
c.421+30647A>C (n.421+30647A>C)
n.440+30647A>C
n.242+38042A>C
c.935T>G (p.Leu312Arg)
c.1349T>G (p.Leu450Arg)
6g.32293456A>GCA363561677TSBP1,TSBP1-AS1c.1211T>C (p.Leu404Pro)
c.1214T>C (p.Leu405Pro)
c.1190T>C (p.Leu397Pro)
c.1217T>C (p.Leu406Pro)
c.1169T>C (p.Leu390Pro)
c.1202T>C (p.Leu401Pro)
c.1271T>C (p.Leu424Pro)
c.1250T>C (p.Leu417Pro)
c.1247T>C (p.Leu416Pro)
c.1229T>C (p.Leu410Pro)
c.1193T>C (p.Leu398Pro)
c.1172T>C (p.Leu391Pro)
c.421+30647A>G (n.421+30647A>G)
n.440+30647A>G
n.242+38042A>G
c.935T>C (p.Leu312Pro)
c.1349T>C (p.Leu450Pro)
 dbSNP gnomAD v3 gnomAD v4
6g.32293456A>TCA363561678TSBP1,TSBP1-AS1c.1211T>A (p.Leu404Gln)
c.1214T>A (p.Leu405Gln)
c.1190T>A (p.Leu397Gln)
c.1217T>A (p.Leu406Gln)
c.1169T>A (p.Leu390Gln)
c.1202T>A (p.Leu401Gln)
c.1271T>A (p.Leu424Gln)
c.1250T>A (p.Leu417Gln)
c.1247T>A (p.Leu416Gln)
c.1229T>A (p.Leu410Gln)
c.1193T>A (p.Leu398Gln)
c.1172T>A (p.Leu391Gln)
c.421+30647A>T (n.421+30647A>T)
n.440+30647A>T
n.242+38042A>T
c.935T>A (p.Leu312Gln)
c.1349T>A (p.Leu450Gln)
6g.32293457G>ACA449829758TSBP1,TSBP1-AS1c.1210C>T (p.Leu404=)
c.1213C>T (p.Leu405=)
c.1189C>T (p.Leu397=)
c.1216C>T (p.Leu406=)
c.1168C>T (p.Leu390=)
c.1201C>T (p.Leu401=)
c.1270C>T (p.Leu424=)
c.1249C>T (p.Leu417=)
c.1246C>T (p.Leu416=)
c.1228C>T (p.Leu410=)
c.1192C>T (p.Leu398=)
c.1171C>T (p.Leu391=)
c.421+30648G>A (n.421+30648G>A)
n.440+30648G>A
n.242+38043G>A
c.934C>T (p.Leu312=)
c.1348C>T (p.Leu450=)
 dbSNP gnomAD v2 gnomAD v4
6g.32293457G>CCA363561679TSBP1,TSBP1-AS1c.1210C>G (p.Leu404Val)
c.1213C>G (p.Leu405Val)
c.1189C>G (p.Leu397Val)
c.1216C>G (p.Leu406Val)
c.1168C>G (p.Leu390Val)
c.1201C>G (p.Leu401Val)
c.1270C>G (p.Leu424Val)
c.1249C>G (p.Leu417Val)
c.1246C>G (p.Leu416Val)
c.1228C>G (p.Leu410Val)
c.1192C>G (p.Leu398Val)
c.1171C>G (p.Leu391Val)
c.421+30648G>C (n.421+30648G>C)
n.440+30648G>C
n.242+38043G>C
c.934C>G (p.Leu312Val)
c.1348C>G (p.Leu450Val)
6g.32293457G=CA1619500833TSBP1,TSBP1-AS1c.1210C= (p.Leu404=)
c.1213C= (p.Leu405=)
c.1189C= (p.Leu397=)
c.1216C= (p.Leu406=)
c.1168C= (p.Leu390=)
c.1201C= (p.Leu401=)
c.1270C= (p.Leu424=)
c.1249C= (p.Leu417=)
c.1246C= (p.Leu416=)
c.1228C= (p.Leu410=)
c.1192C= (p.Leu398=)
c.1171C= (p.Leu391=)
c.421+30648G= (n.421+30648G=)
n.440+30648G=
n.242+38043G=
c.934C= (p.Leu312=)
c.1348C= (p.Leu450=)
6g.32293457G>TCA363561680TSBP1,TSBP1-AS1c.1210C>A (p.Leu404Met)
c.1213C>A (p.Leu405Met)
c.1189C>A (p.Leu397Met)
c.1216C>A (p.Leu406Met)
c.1168C>A (p.Leu390Met)
c.1201C>A (p.Leu401Met)
c.1270C>A (p.Leu424Met)
c.1249C>A (p.Leu417Met)
c.1246C>A (p.Leu416Met)
c.1228C>A (p.Leu410Met)
c.1192C>A (p.Leu398Met)
c.1171C>A (p.Leu391Met)
c.421+30648G>T (n.421+30648G>T)
n.440+30648G>T
n.242+38043G>T
c.934C>A (p.Leu312Met)
c.1348C>A (p.Leu450Met)
6g.32293458T>ACA449829761TSBP1,TSBP1-AS1c.1209A>T (p.Val403=)
c.1212A>T (p.Val404=)
c.1188A>T (p.Val396=)
c.1215A>T (p.Val405=)
c.1167A>T (p.Val389=)
c.1200A>T (p.Val400=)
c.1269A>T (p.Val423=)
c.1248A>T (p.Val416=)
c.1245A>T (p.Val415=)
c.1227A>T (p.Val409=)
c.1191A>T (p.Val397=)
c.1170A>T (p.Val390=)
c.421+30649T>A (n.421+30649T>A)
n.440+30649T>A
n.242+38044T>A
c.933A>T (p.Val311=)
c.1347A>T (p.Val449=)
6g.32293458T>CCA449829762TSBP1,TSBP1-AS1c.1209A>G (p.Val403=)
c.1212A>G (p.Val404=)
c.1188A>G (p.Val396=)
c.1215A>G (p.Val405=)
c.1167A>G (p.Val389=)
c.1200A>G (p.Val400=)
c.1269A>G (p.Val423=)
c.1248A>G (p.Val416=)
c.1245A>G (p.Val415=)
c.1227A>G (p.Val409=)
c.1191A>G (p.Val397=)
c.1170A>G (p.Val390=)
c.421+30649T>C (n.421+30649T>C)
n.440+30649T>C
n.242+38044T>C
c.933A>G (p.Val311=)
c.1347A>G (p.Val449=)
6g.32293458T>GCA449829763TSBP1,TSBP1-AS1c.1209A>C (p.Val403=)
c.1212A>C (p.Val404=)
c.1188A>C (p.Val396=)
c.1215A>C (p.Val405=)
c.1167A>C (p.Val389=)
c.1200A>C (p.Val400=)
c.1269A>C (p.Val423=)
c.1248A>C (p.Val416=)
c.1245A>C (p.Val415=)
c.1227A>C (p.Val409=)
c.1191A>C (p.Val397=)
c.1170A>C (p.Val390=)
c.421+30649T>G (n.421+30649T>G)
n.440+30649T>G
n.242+38044T>G
c.933A>C (p.Val311=)
c.1347A>C (p.Val449=)
6g.32293459A>CCA363561683TSBP1,TSBP1-AS1c.1208T>G (p.Val403Gly)
c.1211T>G (p.Val404Gly)
c.1187T>G (p.Val396Gly)
c.1214T>G (p.Val405Gly)
c.1166T>G (p.Val389Gly)
c.1199T>G (p.Val400Gly)
c.1268T>G (p.Val423Gly)
c.1247T>G (p.Val416Gly)
c.1244T>G (p.Val415Gly)
c.1226T>G (p.Val409Gly)
c.1190T>G (p.Val397Gly)
c.1169T>G (p.Val390Gly)
c.421+30650A>C (n.421+30650A>C)
n.440+30650A>C
n.242+38045A>C
c.932T>G (p.Val311Gly)
c.1346T>G (p.Val449Gly)
6g.32293459A>GCA363561682TSBP1,TSBP1-AS1c.1208T>C (p.Val403Ala)
c.1211T>C (p.Val404Ala)
c.1187T>C (p.Val396Ala)
c.1214T>C (p.Val405Ala)
c.1166T>C (p.Val389Ala)
c.1199T>C (p.Val400Ala)
c.1268T>C (p.Val423Ala)
c.1247T>C (p.Val416Ala)
c.1244T>C (p.Val415Ala)
c.1226T>C (p.Val409Ala)
c.1190T>C (p.Val397Ala)
c.1169T>C (p.Val390Ala)
c.421+30650A>G (n.421+30650A>G)
n.440+30650A>G
n.242+38045A>G
c.932T>C (p.Val311Ala)
c.1346T>C (p.Val449Ala)
 gnomAD v4
6g.32293459A>TCA363561681TSBP1,TSBP1-AS1c.1208T>A (p.Val403Glu)
c.1211T>A (p.Val404Glu)
c.1187T>A (p.Val396Glu)
c.1214T>A (p.Val405Glu)
c.1166T>A (p.Val389Glu)
c.1199T>A (p.Val400Glu)
c.1268T>A (p.Val423Glu)
c.1247T>A (p.Val416Glu)
c.1244T>A (p.Val415Glu)
c.1226T>A (p.Val409Glu)
c.1190T>A (p.Val397Glu)
c.1169T>A (p.Val390Glu)
c.421+30650A>T (n.421+30650A>T)
n.440+30650A>T
n.242+38045A>T
c.932T>A (p.Val311Glu)
c.1346T>A (p.Val449Glu)
6g.32293460C>ACA363561684TSBP1,TSBP1-AS1c.1207G>T (p.Val403Leu)
c.1210G>T (p.Val404Leu)
c.1186G>T (p.Val396Leu)
c.1213G>T (p.Val405Leu)
c.1165G>T (p.Val389Leu)
c.1198G>T (p.Val400Leu)
c.1267G>T (p.Val423Leu)
c.1246G>T (p.Val416Leu)
c.1243G>T (p.Val415Leu)
c.1225G>T (p.Val409Leu)
c.1189G>T (p.Val397Leu)
c.1168G>T (p.Val390Leu)
c.421+30651C>A (n.421+30651C>A)
n.440+30651C>A
n.242+38046C>A
c.931G>T (p.Val311Leu)
c.1345G>T (p.Val449Leu)
 gnomAD v4
6g.32293460C>GCA363561685TSBP1,TSBP1-AS1c.1207G>C (p.Val403Leu)
c.1210G>C (p.Val404Leu)
c.1186G>C (p.Val396Leu)
c.1213G>C (p.Val405Leu)
c.1165G>C (p.Val389Leu)
c.1198G>C (p.Val400Leu)
c.1267G>C (p.Val423Leu)
c.1246G>C (p.Val416Leu)
c.1243G>C (p.Val415Leu)
c.1225G>C (p.Val409Leu)
c.1189G>C (p.Val397Leu)
c.1168G>C (p.Val390Leu)
c.421+30651C>G (n.421+30651C>G)
n.440+30651C>G
n.242+38046C>G
c.931G>C (p.Val311Leu)
c.1345G>C (p.Val449Leu)
6g.32293460C>TCA363561686TSBP1,TSBP1-AS1c.1207G>A (p.Val403Ile)
c.1210G>A (p.Val404Ile)
c.1186G>A (p.Val396Ile)
c.1213G>A (p.Val405Ile)
c.1165G>A (p.Val389Ile)
c.1198G>A (p.Val400Ile)
c.1267G>A (p.Val423Ile)
c.1246G>A (p.Val416Ile)
c.1243G>A (p.Val415Ile)
c.1225G>A (p.Val409Ile)
c.1189G>A (p.Val397Ile)
c.1168G>A (p.Val390Ile)
c.421+30651C>T (n.421+30651C>T)
n.440+30651C>T
n.242+38046C>T
c.931G>A (p.Val311Ile)
c.1345G>A (p.Val449Ile)
6g.32293461A>CCA449829765TSBP1,TSBP1-AS1c.1206T>G (p.Val402=)
c.1209T>G (p.Val403=)
c.1185T>G (p.Val395=)
c.1212T>G (p.Val404=)
c.1164T>G (p.Val388=)
c.1197T>G (p.Val399=)
c.1266T>G (p.Val422=)
c.1245T>G (p.Val415=)
c.1242T>G (p.Val414=)
c.1224T>G (p.Val408=)
c.1188T>G (p.Val396=)
c.1167T>G (p.Val389=)
c.421+30652A>C (n.421+30652A>C)
n.440+30652A>C
n.242+38047A>C
c.930T>G (p.Val310=)
c.1344T>G (p.Val448=)
6g.32293461A>GCA449829766TSBP1,TSBP1-AS1c.1206T>C (p.Val402=)
c.1209T>C (p.Val403=)
c.1185T>C (p.Val395=)
c.1212T>C (p.Val404=)
c.1164T>C (p.Val388=)
c.1197T>C (p.Val399=)
c.1266T>C (p.Val422=)
c.1245T>C (p.Val415=)
c.1242T>C (p.Val414=)
c.1224T>C (p.Val408=)
c.1188T>C (p.Val396=)
c.1167T>C (p.Val389=)
c.421+30652A>G (n.421+30652A>G)
n.440+30652A>G
n.242+38047A>G
c.930T>C (p.Val310=)
c.1344T>C (p.Val448=)
 gnomAD v4
6g.32293461A>TCA449829767TSBP1,TSBP1-AS1c.1206T>A (p.Val402=)
c.1209T>A (p.Val403=)
c.1185T>A (p.Val395=)
c.1212T>A (p.Val404=)
c.1164T>A (p.Val388=)
c.1197T>A (p.Val399=)
c.1266T>A (p.Val422=)
c.1245T>A (p.Val415=)
c.1242T>A (p.Val414=)
c.1224T>A (p.Val408=)
c.1188T>A (p.Val396=)
c.1167T>A (p.Val389=)
c.421+30652A>T (n.421+30652A>T)
n.440+30652A>T
n.242+38047A>T
c.930T>A (p.Val310=)
c.1344T>A (p.Val448=)
6g.32293462A=CA1619500834TSBP1,TSBP1-AS1c.1205T= (p.Val402=)
c.1208T= (p.Val403=)
c.1184T= (p.Val395=)
c.1211T= (p.Val404=)
c.1163T= (p.Val388=)
c.1196T= (p.Val399=)
c.1265T= (p.Val422=)
c.1244T= (p.Val415=)
c.1241T= (p.Val414=)
c.1223T= (p.Val408=)
c.1187T= (p.Val396=)
c.1166T= (p.Val389=)
c.421+30653A= (n.421+30653A=)
n.440+30653A=
n.242+38048A=
c.929T= (p.Val310=)
c.1343T= (p.Val448=)
6g.32293462A>CCA363561687TSBP1,TSBP1-AS1c.1205T>G (p.Val402Gly)
c.1208T>G (p.Val403Gly)
c.1184T>G (p.Val395Gly)
c.1211T>G (p.Val404Gly)
c.1163T>G (p.Val388Gly)
c.1196T>G (p.Val399Gly)
c.1265T>G (p.Val422Gly)
c.1244T>G (p.Val415Gly)
c.1241T>G (p.Val414Gly)
c.1223T>G (p.Val408Gly)
c.1187T>G (p.Val396Gly)
c.1166T>G (p.Val389Gly)
c.421+30653A>C (n.421+30653A>C)
n.440+30653A>C
n.242+38048A>C
c.929T>G (p.Val310Gly)
c.1343T>G (p.Val448Gly)
6g.32293462A>GCA363561688TSBP1,TSBP1-AS1c.1205T>C (p.Val402Ala)
c.1208T>C (p.Val403Ala)
c.1184T>C (p.Val395Ala)
c.1211T>C (p.Val404Ala)
c.1163T>C (p.Val388Ala)
c.1196T>C (p.Val399Ala)
c.1265T>C (p.Val422Ala)
c.1244T>C (p.Val415Ala)
c.1241T>C (p.Val414Ala)
c.1223T>C (p.Val408Ala)
c.1187T>C (p.Val396Ala)
c.1166T>C (p.Val389Ala)
c.421+30653A>G (n.421+30653A>G)
n.440+30653A>G
n.242+38048A>G
c.929T>C (p.Val310Ala)
c.1343T>C (p.Val448Ala)
 dbSNP gnomAD v2 gnomAD v4
6g.32293462A>TCA363561689TSBP1,TSBP1-AS1c.1205T>A (p.Val402Asp)
c.1208T>A (p.Val403Asp)
c.1184T>A (p.Val395Asp)
c.1211T>A (p.Val404Asp)
c.1163T>A (p.Val388Asp)
c.1196T>A (p.Val399Asp)
c.1265T>A (p.Val422Asp)
c.1244T>A (p.Val415Asp)
c.1241T>A (p.Val414Asp)
c.1223T>A (p.Val408Asp)
c.1187T>A (p.Val396Asp)
c.1166T>A (p.Val389Asp)
c.421+30653A>T (n.421+30653A>T)
n.440+30653A>T
n.242+38048A>T
c.929T>A (p.Val310Asp)
c.1343T>A (p.Val448Asp)
6g.32293463C>ACA363561690TSBP1,TSBP1-AS1c.1204G>T (p.Val402Phe)
c.1207G>T (p.Val403Phe)
c.1183G>T (p.Val395Phe)
c.1210G>T (p.Val404Phe)
c.1162G>T (p.Val388Phe)
c.1195G>T (p.Val399Phe)
c.1264G>T (p.Val422Phe)
c.1243G>T (p.Val415Phe)
c.1240G>T (p.Val414Phe)
c.1222G>T (p.Val408Phe)
c.1186G>T (p.Val396Phe)
c.1165G>T (p.Val389Phe)
c.421+30654C>A (n.421+30654C>A)
n.440+30654C>A
n.242+38049C>A
c.928G>T (p.Val310Phe)
c.1342G>T (p.Val448Phe)
6g.32293463C>GCA363561692TSBP1,TSBP1-AS1c.1204G>C (p.Val402Leu)
c.1207G>C (p.Val403Leu)
c.1183G>C (p.Val395Leu)
c.1210G>C (p.Val404Leu)
c.1162G>C (p.Val388Leu)
c.1195G>C (p.Val399Leu)
c.1264G>C (p.Val422Leu)
c.1243G>C (p.Val415Leu)
c.1240G>C (p.Val414Leu)
c.1222G>C (p.Val408Leu)
c.1186G>C (p.Val396Leu)
c.1165G>C (p.Val389Leu)
c.421+30654C>G (n.421+30654C>G)
n.440+30654C>G
n.242+38049C>G
c.928G>C (p.Val310Leu)
c.1342G>C (p.Val448Leu)
6g.32293463C>TCA363561691TSBP1,TSBP1-AS1c.1204G>A (p.Val402Ile)
c.1207G>A (p.Val403Ile)
c.1183G>A (p.Val395Ile)
c.1210G>A (p.Val404Ile)
c.1162G>A (p.Val388Ile)
c.1195G>A (p.Val399Ile)
c.1264G>A (p.Val422Ile)
c.1243G>A (p.Val415Ile)
c.1240G>A (p.Val414Ile)
c.1222G>A (p.Val408Ile)
c.1186G>A (p.Val396Ile)
c.1165G>A (p.Val389Ile)
c.421+30654C>T (n.421+30654C>T)
n.440+30654C>T
n.242+38049C>T
c.928G>A (p.Val310Ile)
c.1342G>A (p.Val448Ile)
6g.32293464T>ACA449829772TSBP1,TSBP1-AS1c.1203A>T (p.Ser401=)
c.1206A>T (p.Ser402=)
c.1182A>T (p.Ser394=)
c.1209A>T (p.Ser403=)
c.1161A>T (p.Ser387=)
c.1194A>T (p.Ser398=)
c.1263A>T (p.Ser421=)
c.1242A>T (p.Ser414=)
c.1239A>T (p.Ser413=)
c.1221A>T (p.Ser407=)
c.1185A>T (p.Ser395=)
c.1164A>T (p.Ser388=)
c.421+30655T>A (n.421+30655T>A)
n.440+30655T>A
n.242+38050T>A
c.927A>T (p.Ser309=)
c.1341A>T (p.Ser447=)
6g.32293464T>CCA136929578TSBP1,TSBP1-AS1c.1203A>G (p.Ser401=)
c.1206A>G (p.Ser402=)
c.1182A>G (p.Ser394=)
c.1209A>G (p.Ser403=)
c.1161A>G (p.Ser387=)
c.1194A>G (p.Ser398=)
c.1263A>G (p.Ser421=)
c.1242A>G (p.Ser414=)
c.1239A>G (p.Ser413=)
c.1221A>G (p.Ser407=)
c.1185A>G (p.Ser395=)
c.1164A>G (p.Ser388=)
c.421+30655T>C (n.421+30655T>C)
n.440+30655T>C
n.242+38050T>C
c.927A>G (p.Ser309=)
c.1341A>G (p.Ser447=)
 dbSNP
6g.32293464T>GCA449829771TSBP1,TSBP1-AS1c.1203A>C (p.Ser401=)
c.1206A>C (p.Ser402=)
c.1182A>C (p.Ser394=)
c.1209A>C (p.Ser403=)
c.1161A>C (p.Ser387=)
c.1194A>C (p.Ser398=)
c.1263A>C (p.Ser421=)
c.1242A>C (p.Ser414=)
c.1239A>C (p.Ser413=)
c.1221A>C (p.Ser407=)
c.1185A>C (p.Ser395=)
c.1164A>C (p.Ser388=)
c.421+30655T>G (n.421+30655T>G)
n.440+30655T>G
n.242+38050T>G
c.927A>C (p.Ser309=)
c.1341A>C (p.Ser447=)
 dbSNP gnomAD v2 gnomAD v4
6g.32293464T=CA1619500835TSBP1,TSBP1-AS1c.1203A= (p.Ser401=)
c.1206A= (p.Ser402=)
c.1182A= (p.Ser394=)
c.1209A= (p.Ser403=)
c.1161A= (p.Ser387=)
c.1194A= (p.Ser398=)
c.1263A= (p.Ser421=)
c.1242A= (p.Ser414=)
c.1239A= (p.Ser413=)
c.1221A= (p.Ser407=)
c.1185A= (p.Ser395=)
c.1164A= (p.Ser388=)
c.421+30655T= (n.421+30655T=)
n.440+30655T=
n.242+38050T=
c.927A= (p.Ser309=)
c.1341A= (p.Ser447=)
6g.32293465G>ACA136929583TSBP1,TSBP1-AS1c.1202C>T (p.Ser401Leu)
c.1205C>T (p.Ser402Leu)
c.1181C>T (p.Ser394Leu)
c.1208C>T (p.Ser403Leu)
c.1160C>T (p.Ser387Leu)
c.1193C>T (p.Ser398Leu)
c.1262C>T (p.Ser421Leu)
c.1241C>T (p.Ser414Leu)
c.1238C>T (p.Ser413Leu)
c.1220C>T (p.Ser407Leu)
c.1184C>T (p.Ser395Leu)
c.1163C>T (p.Ser388Leu)
c.421+30656G>A (n.421+30656G>A)
n.440+30656G>A
n.242+38051G>A
c.926C>T (p.Ser309Leu)
c.1340C>T (p.Ser447Leu)
 dbSNP
6g.32293465G>CCA3740508TSBP1,TSBP1-AS1c.1202C>G (p.Ser401Ter)
c.1205C>G (p.Ser402Ter)
c.1181C>G (p.Ser394Ter)
c.1208C>G (p.Ser403Ter)
c.1160C>G (p.Ser387Ter)
c.1193C>G (p.Ser398Ter)
c.1262C>G (p.Ser421Ter)
c.1241C>G (p.Ser414Ter)
c.1238C>G (p.Ser413Ter)
c.1220C>G (p.Ser407Ter)
c.1184C>G (p.Ser395Ter)
c.1163C>G (p.Ser388Ter)
c.421+30656G>C (n.421+30656G>C)
n.440+30656G>C
n.242+38051G>C
c.926C>G (p.Ser309Ter)
c.1340C>G (p.Ser447Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293465G=CA1619500836TSBP1,TSBP1-AS1c.1202C= (p.Ser401=)
c.1205C= (p.Ser402=)
c.1181C= (p.Ser394=)
c.1208C= (p.Ser403=)
c.1160C= (p.Ser387=)
c.1193C= (p.Ser398=)
c.1262C= (p.Ser421=)
c.1241C= (p.Ser414=)
c.1238C= (p.Ser413=)
c.1220C= (p.Ser407=)
c.1184C= (p.Ser395=)
c.1163C= (p.Ser388=)
c.421+30656G= (n.421+30656G=)
n.440+30656G=
n.242+38051G=
c.926C= (p.Ser309=)
c.1340C= (p.Ser447=)
6g.32293465G>TCA363561693TSBP1,TSBP1-AS1c.1202C>A (p.Ser401Ter)
c.1205C>A (p.Ser402Ter)
c.1181C>A (p.Ser394Ter)
c.1208C>A (p.Ser403Ter)
c.1160C>A (p.Ser387Ter)
c.1193C>A (p.Ser398Ter)
c.1262C>A (p.Ser421Ter)
c.1241C>A (p.Ser414Ter)
c.1238C>A (p.Ser413Ter)
c.1220C>A (p.Ser407Ter)
c.1184C>A (p.Ser395Ter)
c.1163C>A (p.Ser388Ter)
c.421+30656G>T (n.421+30656G>T)
n.440+30656G>T
n.242+38051G>T
c.926C>A (p.Ser309Ter)
c.1340C>A (p.Ser447Ter)
6g.32293466A>CCA363561694TSBP1,TSBP1-AS1c.1201T>G (p.Ser401Ala)
c.1204T>G (p.Ser402Ala)
c.1180T>G (p.Ser394Ala)
c.1207T>G (p.Ser403Ala)
c.1159T>G (p.Ser387Ala)
c.1192T>G (p.Ser398Ala)
c.1261T>G (p.Ser421Ala)
c.1240T>G (p.Ser414Ala)
c.1237T>G (p.Ser413Ala)
c.1219T>G (p.Ser407Ala)
c.1183T>G (p.Ser395Ala)
c.1162T>G (p.Ser388Ala)
c.421+30657A>C (n.421+30657A>C)
n.440+30657A>C
n.242+38052A>C
c.925T>G (p.Ser309Ala)
c.1339T>G (p.Ser447Ala)
6g.32293466A>GCA363561695TSBP1,TSBP1-AS1c.1201T>C (p.Ser401Pro)
c.1204T>C (p.Ser402Pro)
c.1180T>C (p.Ser394Pro)
c.1207T>C (p.Ser403Pro)
c.1159T>C (p.Ser387Pro)
c.1192T>C (p.Ser398Pro)
c.1261T>C (p.Ser421Pro)
c.1240T>C (p.Ser414Pro)
c.1237T>C (p.Ser413Pro)
c.1219T>C (p.Ser407Pro)
c.1183T>C (p.Ser395Pro)
c.1162T>C (p.Ser388Pro)
c.421+30657A>G (n.421+30657A>G)
n.440+30657A>G
n.242+38052A>G
c.925T>C (p.Ser309Pro)
c.1339T>C (p.Ser447Pro)
6g.32293466A>TCA363561696TSBP1,TSBP1-AS1c.1201T>A (p.Ser401Thr)
c.1204T>A (p.Ser402Thr)
c.1180T>A (p.Ser394Thr)
c.1207T>A (p.Ser403Thr)
c.1159T>A (p.Ser387Thr)
c.1192T>A (p.Ser398Thr)
c.1261T>A (p.Ser421Thr)
c.1240T>A (p.Ser414Thr)
c.1237T>A (p.Ser413Thr)
c.1219T>A (p.Ser407Thr)
c.1183T>A (p.Ser395Thr)
c.1162T>A (p.Ser388Thr)
c.421+30657A>T (n.421+30657A>T)
n.440+30657A>T
n.242+38052A>T
c.925T>A (p.Ser309Thr)
c.1339T>A (p.Ser447Thr)
6g.32293467C>ACA363561697TSBP1,TSBP1-AS1c.1200G>T (p.Glu400Asp)
c.1203G>T (p.Glu401Asp)
c.1179G>T (p.Glu393Asp)
c.1206G>T (p.Glu402Asp)
c.1158G>T (p.Glu386Asp)
c.1191G>T (p.Glu397Asp)
c.1260G>T (p.Glu420Asp)
c.1239G>T (p.Glu413Asp)
c.1236G>T (p.Glu412Asp)
c.1218G>T (p.Glu406Asp)
c.1182G>T (p.Glu394Asp)
c.1161G>T (p.Glu387Asp)
c.421+30658C>A (n.421+30658C>A)
n.440+30658C>A
n.242+38053C>A
c.924G>T (p.Glu308Asp)
c.1338G>T (p.Glu446Asp)
6g.32293467C>GCA363561698TSBP1,TSBP1-AS1c.1200G>C (p.Glu400Asp)
c.1203G>C (p.Glu401Asp)
c.1179G>C (p.Glu393Asp)
c.1206G>C (p.Glu402Asp)
c.1158G>C (p.Glu386Asp)
c.1191G>C (p.Glu397Asp)
c.1260G>C (p.Glu420Asp)
c.1239G>C (p.Glu413Asp)
c.1236G>C (p.Glu412Asp)
c.1218G>C (p.Glu406Asp)
c.1182G>C (p.Glu394Asp)
c.1161G>C (p.Glu387Asp)
c.421+30658C>G (n.421+30658C>G)
n.440+30658C>G
n.242+38053C>G
c.924G>C (p.Glu308Asp)
c.1338G>C (p.Glu446Asp)
6g.32293467C>TCA449829773TSBP1,TSBP1-AS1c.1200G>A (p.Glu400=)
c.1203G>A (p.Glu401=)
c.1179G>A (p.Glu393=)
c.1206G>A (p.Glu402=)
c.1158G>A (p.Glu386=)
c.1191G>A (p.Glu397=)
c.1260G>A (p.Glu420=)
c.1239G>A (p.Glu413=)
c.1236G>A (p.Glu412=)
c.1218G>A (p.Glu406=)
c.1182G>A (p.Glu394=)
c.1161G>A (p.Glu387=)
c.421+30658C>T (n.421+30658C>T)
n.440+30658C>T
n.242+38053C>T
c.924G>A (p.Glu308=)
c.1338G>A (p.Glu446=)
6g.32293468T>ACA363561699TSBP1,TSBP1-AS1c.1199A>T (p.Glu400Val)
c.1202A>T (p.Glu401Val)
c.1178A>T (p.Glu393Val)
c.1205A>T (p.Glu402Val)
c.1157A>T (p.Glu386Val)
c.1190A>T (p.Glu397Val)
c.1259A>T (p.Glu420Val)
c.1238A>T (p.Glu413Val)
c.1235A>T (p.Glu412Val)
c.1217A>T (p.Glu406Val)
c.1181A>T (p.Glu394Val)
c.1160A>T (p.Glu387Val)
c.421+30659T>A (n.421+30659T>A)
n.440+30659T>A
n.242+38054T>A
c.923A>T (p.Glu308Val)
c.1337A>T (p.Glu446Val)
6g.32293468T>CCA363561700TSBP1,TSBP1-AS1c.1199A>G (p.Glu400Gly)
c.1202A>G (p.Glu401Gly)
c.1178A>G (p.Glu393Gly)
c.1205A>G (p.Glu402Gly)
c.1157A>G (p.Glu386Gly)
c.1190A>G (p.Glu397Gly)
c.1259A>G (p.Glu420Gly)
c.1238A>G (p.Glu413Gly)
c.1235A>G (p.Glu412Gly)
c.1217A>G (p.Glu406Gly)
c.1181A>G (p.Glu394Gly)
c.1160A>G (p.Glu387Gly)
c.421+30659T>C (n.421+30659T>C)
n.440+30659T>C
n.242+38054T>C
c.923A>G (p.Glu308Gly)
c.1337A>G (p.Glu446Gly)
6g.32293468T>GCA363561701TSBP1,TSBP1-AS1c.1199A>C (p.Glu400Ala)
c.1202A>C (p.Glu401Ala)
c.1178A>C (p.Glu393Ala)
c.1205A>C (p.Glu402Ala)
c.1157A>C (p.Glu386Ala)
c.1190A>C (p.Glu397Ala)
c.1259A>C (p.Glu420Ala)
c.1238A>C (p.Glu413Ala)
c.1235A>C (p.Glu412Ala)
c.1217A>C (p.Glu406Ala)
c.1181A>C (p.Glu394Ala)
c.1160A>C (p.Glu387Ala)
c.421+30659T>G (n.421+30659T>G)
n.440+30659T>G
n.242+38054T>G
c.923A>C (p.Glu308Ala)
c.1337A>C (p.Glu446Ala)
6g.32293468T=CA1619500837TSBP1,TSBP1-AS1c.1199A= (p.Glu400=)
c.1202A= (p.Glu401=)
c.1178A= (p.Glu393=)
c.1205A= (p.Glu402=)
c.1157A= (p.Glu386=)
c.1190A= (p.Glu397=)
c.1259A= (p.Glu420=)
c.1238A= (p.Glu413=)
c.1235A= (p.Glu412=)
c.1217A= (p.Glu406=)
c.1181A= (p.Glu394=)
c.1160A= (p.Glu387=)
c.421+30659T= (n.421+30659T=)
n.440+30659T=
n.242+38054T=
c.923A= (p.Glu308=)
c.1337A= (p.Glu446=)
6g.32293469C>ACA363561702TSBP1,TSBP1-AS1c.1198G>T (p.Glu400Ter)
c.1201G>T (p.Glu401Ter)
c.1177G>T (p.Glu393Ter)
c.1204G>T (p.Glu402Ter)
c.1156G>T (p.Glu386Ter)
c.1189G>T (p.Glu397Ter)
c.1258G>T (p.Glu420Ter)
c.1237G>T (p.Glu413Ter)
c.1234G>T (p.Glu412Ter)
c.1216G>T (p.Glu406Ter)
c.1180G>T (p.Glu394Ter)
c.1159G>T (p.Glu387Ter)
c.421+30660C>A (n.421+30660C>A)
n.440+30660C>A
n.242+38055C>A
c.922G>T (p.Glu308Ter)
c.1336G>T (p.Glu446Ter)
6g.32293469C>GCA363561704TSBP1,TSBP1-AS1c.1198G>C (p.Glu400Gln)
c.1201G>C (p.Glu401Gln)
c.1177G>C (p.Glu393Gln)
c.1204G>C (p.Glu402Gln)
c.1156G>C (p.Glu386Gln)
c.1189G>C (p.Glu397Gln)
c.1258G>C (p.Glu420Gln)
c.1237G>C (p.Glu413Gln)
c.1234G>C (p.Glu412Gln)
c.1216G>C (p.Glu406Gln)
c.1180G>C (p.Glu394Gln)
c.1159G>C (p.Glu387Gln)
c.421+30660C>G (n.421+30660C>G)
n.440+30660C>G
n.242+38055C>G
c.922G>C (p.Glu308Gln)
c.1336G>C (p.Glu446Gln)
6g.32293469C>TCA363561703TSBP1,TSBP1-AS1c.1198G>A (p.Glu400Lys)
c.1201G>A (p.Glu401Lys)
c.1177G>A (p.Glu393Lys)
c.1204G>A (p.Glu402Lys)
c.1156G>A (p.Glu386Lys)
c.1189G>A (p.Glu397Lys)
c.1258G>A (p.Glu420Lys)
c.1237G>A (p.Glu413Lys)
c.1234G>A (p.Glu412Lys)
c.1216G>A (p.Glu406Lys)
c.1180G>A (p.Glu394Lys)
c.1159G>A (p.Glu387Lys)
c.421+30660C>T (n.421+30660C>T)
n.440+30660C>T
n.242+38055C>T
c.922G>A (p.Glu308Lys)
c.1336G>A (p.Glu446Lys)
6g.32293471dupCA823938737TSBP1,TSBP1-AS1c.1198dup (p.Glu400GlyfsTer16)
c.1201dup (p.Glu401GlyfsTer16)
c.1177dup (p.Glu393GlyfsTer16)
c.1204dup (p.Glu402GlyfsTer16)
c.1156dup (p.Glu386GlyfsTer16)
c.1189dup (p.Glu397GlyfsTer16)
c.1258dup (p.Glu420GlyfsTer16)
c.1237dup (p.Glu413GlyfsTer16)
c.1234dup (p.Glu412GlyfsTer16)
c.1216dup (p.Glu406GlyfsTer16)
c.1180dup (p.Glu394GlyfsTer16)
c.1159dup (p.Glu387GlyfsTer16)
c.421+30662dup (n.421+30662dup)
n.440+30662dup
n.242+38057dup
c.922dup (p.Glu308GlyfsTer16)
c.1336dup (p.Glu446GlyfsTer16)
 dbSNP
6g.32293470C>ACA363561705TSBP1,TSBP1-AS1c.1197G>T (p.Arg399Ser)
c.1200G>T (p.Arg400Ser)
c.1176G>T (p.Arg392Ser)
c.1203G>T (p.Arg401Ser)
c.1155G>T (p.Arg385Ser)
c.1188G>T (p.Arg396Ser)
c.1257G>T (p.Arg419Ser)
c.1236G>T (p.Arg412Ser)
c.1233G>T (p.Arg411Ser)
c.1215G>T (p.Arg405Ser)
c.1179G>T (p.Arg393Ser)
c.1158G>T (p.Arg386Ser)
c.421+30661C>A (n.421+30661C>A)
n.440+30661C>A
n.242+38056C>A
c.921G>T (p.Arg307Ser)
c.1335G>T (p.Arg445Ser)
6g.32293470C=CA1619500838TSBP1,TSBP1-AS1c.1197G= (p.Arg399=)
c.1200G= (p.Arg400=)
c.1176G= (p.Arg392=)
c.1203G= (p.Arg401=)
c.1155G= (p.Arg385=)
c.1188G= (p.Arg396=)
c.1257G= (p.Arg419=)
c.1236G= (p.Arg412=)
c.1233G= (p.Arg411=)
c.1215G= (p.Arg405=)
c.1179G= (p.Arg393=)
c.1158G= (p.Arg386=)
c.421+30661C= (n.421+30661C=)
n.440+30661C=
n.242+38056C=
c.921G= (p.Arg307=)
c.1335G= (p.Arg445=)
6g.32293470C>GCA363561706TSBP1,TSBP1-AS1c.1197G>C (p.Arg399Ser)
c.1200G>C (p.Arg400Ser)
c.1176G>C (p.Arg392Ser)
c.1203G>C (p.Arg401Ser)
c.1155G>C (p.Arg385Ser)
c.1188G>C (p.Arg396Ser)
c.1257G>C (p.Arg419Ser)
c.1236G>C (p.Arg412Ser)
c.1233G>C (p.Arg411Ser)
c.1215G>C (p.Arg405Ser)
c.1179G>C (p.Arg393Ser)
c.1158G>C (p.Arg386Ser)
c.421+30661C>G (n.421+30661C>G)
n.440+30661C>G
n.242+38056C>G
c.921G>C (p.Arg307Ser)
c.1335G>C (p.Arg445Ser)
6g.32293470C>TCA3740509TSBP1,TSBP1-AS1c.1197G>A (p.Arg399=)
c.1200G>A (p.Arg400=)
c.1176G>A (p.Arg392=)
c.1203G>A (p.Arg401=)
c.1155G>A (p.Arg385=)
c.1188G>A (p.Arg396=)
c.1257G>A (p.Arg419=)
c.1236G>A (p.Arg412=)
c.1233G>A (p.Arg411=)
c.1215G>A (p.Arg405=)
c.1179G>A (p.Arg393=)
c.1158G>A (p.Arg386=)
c.421+30661C>T (n.421+30661C>T)
n.440+30661C>T
n.242+38056C>T
c.921G>A (p.Arg307=)
c.1335G>A (p.Arg445=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32293471C>ACA363561707TSBP1,TSBP1-AS1c.1196G>T (p.Arg399Met)
c.1199G>T (p.Arg400Met)
c.1175G>T (p.Arg392Met)
c.1202G>T (p.Arg401Met)
c.1154G>T (p.Arg385Met)
c.1187G>T (p.Arg396Met)
c.1256G>T (p.Arg419Met)
c.1235G>T (p.Arg412Met)
c.1232G>T (p.Arg411Met)
c.1214G>T (p.Arg405Met)
c.1178G>T (p.Arg393Met)
c.1157G>T (p.Arg386Met)
c.421+30662C>A (n.421+30662C>A)
n.440+30662C>A
n.242+38057C>A
c.920G>T (p.Arg307Met)
c.1334G>T (p.Arg445Met)
6g.32293471C=CA1619500839TSBP1,TSBP1-AS1c.1196G= (p.Arg399=)
c.1199G= (p.Arg400=)
c.1175G= (p.Arg392=)
c.1202G= (p.Arg401=)
c.1154G= (p.Arg385=)
c.1187G= (p.Arg396=)
c.1256G= (p.Arg419=)
c.1235G= (p.Arg412=)
c.1232G= (p.Arg411=)
c.1214G= (p.Arg405=)
c.1178G= (p.Arg393=)
c.1157G= (p.Arg386=)
c.421+30662C= (n.421+30662C=)
n.440+30662C=
n.242+38057C=
c.920G= (p.Arg307=)
c.1334G= (p.Arg445=)
6g.32293471C>GCA3740510TSBP1,TSBP1-AS1c.1196G>C (p.Arg399Thr)
c.1199G>C (p.Arg400Thr)
c.1175G>C (p.Arg392Thr)
c.1202G>C (p.Arg401Thr)
c.1154G>C (p.Arg385Thr)
c.1187G>C (p.Arg396Thr)
c.1256G>C (p.Arg419Thr)
c.1235G>C (p.Arg412Thr)
c.1232G>C (p.Arg411Thr)
c.1214G>C (p.Arg405Thr)
c.1178G>C (p.Arg393Thr)
c.1157G>C (p.Arg386Thr)
c.421+30662C>G (n.421+30662C>G)
n.440+30662C>G
n.242+38057C>G
c.920G>C (p.Arg307Thr)
c.1334G>C (p.Arg445Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32293471C>TCA363561708TSBP1,TSBP1-AS1c.1196G>A (p.Arg399Lys)
c.1199G>A (p.Arg400Lys)
c.1175G>A (p.Arg392Lys)
c.1202G>A (p.Arg401Lys)
c.1154G>A (p.Arg385Lys)
c.1187G>A (p.Arg396Lys)
c.1256G>A (p.Arg419Lys)
c.1235G>A (p.Arg412Lys)
c.1232G>A (p.Arg411Lys)
c.1214G>A (p.Arg405Lys)
c.1178G>A (p.Arg393Lys)
c.1157G>A (p.Arg386Lys)
c.421+30662C>T (n.421+30662C>T)
n.440+30662C>T
n.242+38057C>T
c.920G>A (p.Arg307Lys)
c.1334G>A (p.Arg445Lys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
6g.32293472T>ACA363561709TSBP1,TSBP1-AS1c.1195A>T (p.Arg399Trp)
c.1198A>T (p.Arg400Trp)
c.1174A>T (p.Arg392Trp)
c.1201A>T (p.Arg401Trp)
c.1153A>T (p.Arg385Trp)
c.1186A>T (p.Arg396Trp)
c.1255A>T (p.Arg419Trp)
c.1234A>T (p.Arg412Trp)
c.1231A>T (p.Arg411Trp)
c.1213A>T (p.Arg405Trp)
c.1177A>T (p.Arg393Trp)
c.1156A>T (p.Arg386Trp)
c.421+30663T>A (n.421+30663T>A)
n.440+30663T>A
n.242+38058T>A
c.919A>T (p.Arg307Trp)
c.1333A>T (p.Arg445Trp)
6g.32293472T>CCA363561710TSBP1,TSBP1-AS1c.1195A>G (p.Arg399Gly)
c.1198A>G (p.Arg400Gly)
c.1174A>G (p.Arg392Gly)
c.1201A>G (p.Arg401Gly)
c.1153A>G (p.Arg385Gly)
c.1186A>G (p.Arg396Gly)
c.1255A>G (p.Arg419Gly)
c.1234A>G (p.Arg412Gly)
c.1231A>G (p.Arg411Gly)
c.1213A>G (p.Arg405Gly)
c.1177A>G (p.Arg393Gly)
c.1156A>G (p.Arg386Gly)
c.421+30663T>C (n.421+30663T>C)
n.440+30663T>C
n.242+38058T>C
c.919A>G (p.Arg307Gly)
c.1333A>G (p.Arg445Gly)
6g.32293472T>GCA449829775TSBP1,TSBP1-AS1c.1195A>C (p.Arg399=)
c.1198A>C (p.Arg400=)
c.1174A>C (p.Arg392=)
c.1201A>C (p.Arg401=)
c.1153A>C (p.Arg385=)
c.1186A>C (p.Arg396=)
c.1255A>C (p.Arg419=)
c.1234A>C (p.Arg412=)
c.1231A>C (p.Arg411=)
c.1213A>C (p.Arg405=)
c.1177A>C (p.Arg393=)
c.1156A>C (p.Arg386=)
c.421+30663T>G (n.421+30663T>G)
n.440+30663T>G
n.242+38058T>G
c.919A>C (p.Arg307=)
c.1333A>C (p.Arg445=)
6g.32293476_32293478delCA2678139200TSBP1,TSBP1-AS1c.1193_1195del (p.Lys398del)
c.1196_1198del (p.Lys399del)
c.1172_1174del (p.Lys391del)
c.1199_1201del (p.Lys400del)
c.1151_1153del (p.Lys384del)
c.1184_1186del (p.Lys395del)
c.1253_1255del (p.Lys418del)
c.1232_1234del (p.Lys411del)
c.1229_1231del (p.Lys410del)
c.1211_1213del (p.Lys404del)
c.1175_1177del (p.Lys392del)
c.1154_1156del (p.Lys385del)
c.421+30667_421+30669del (n.421+30667_421+30669del)
n.440+30667_440+30669del
n.242+38062_242+38064del
c.917_919del (p.Lys306del)
c.1331_1333del (p.Lys444del)
 gnomAD v4
6g.32293473C>ACA363561711TSBP1,TSBP1-AS1c.1194G>T (p.Lys398Asn)
c.1197G>T (p.Lys399Asn)
c.1173G>T (p.Lys391Asn)
c.1200G>T (p.Lys400Asn)
c.1152G>T (p.Lys384Asn)
c.1185G>T (p.Lys395Asn)
c.1254G>T (p.Lys418Asn)
c.1233G>T (p.Lys411Asn)
c.1230G>T (p.Lys410Asn)
c.1212G>T (p.Lys404Asn)
c.1176G>T (p.Lys392Asn)
c.1155G>T (p.Lys385Asn)
c.421+30664C>A (n.421+30664C>A)
n.440+30664C>A
n.242+38059C>A
c.918G>T (p.Lys306Asn)
c.1332G>T (p.Lys444Asn)
6g.32293473C=CA1619500840TSBP1,TSBP1-AS1c.1194G= (p.Lys398=)
c.1197G= (p.Lys399=)
c.1173G= (p.Lys391=)
c.1200G= (p.Lys400=)
c.1152G= (p.Lys384=)
c.1185G= (p.Lys395=)
c.1254G= (p.Lys418=)
c.1233G= (p.Lys411=)
c.1230G= (p.Lys410=)
c.1212G= (p.Lys404=)
c.1176G= (p.Lys392=)
c.1155G= (p.Lys385=)
c.421+30664C= (n.421+30664C=)
n.440+30664C=
n.242+38059C=
c.918G= (p.Lys306=)
c.1332G= (p.Lys444=)
6g.32293473C>GCA363561712TSBP1,TSBP1-AS1c.1194G>C (p.Lys398Asn)
c.1197G>C (p.Lys399Asn)
c.1173G>C (p.Lys391Asn)
c.1200G>C (p.Lys400Asn)
c.1152G>C (p.Lys384Asn)
c.1185G>C (p.Lys395Asn)
c.1254G>C (p.Lys418Asn)
c.1233G>C (p.Lys411Asn)
c.1230G>C (p.Lys410Asn)
c.1212G>C (p.Lys404Asn)
c.1176G>C (p.Lys392Asn)
c.1155G>C (p.Lys385Asn)
c.421+30664C>G (n.421+30664C>G)
n.440+30664C>G
n.242+38059C>G
c.918G>C (p.Lys306Asn)
c.1332G>C (p.Lys444Asn)
6g.32293473C>TCA449829778TSBP1,TSBP1-AS1c.1194G>A (p.Lys398=)
c.1197G>A (p.Lys399=)
c.1173G>A (p.Lys391=)
c.1200G>A (p.Lys400=)
c.1152G>A (p.Lys384=)
c.1185G>A (p.Lys395=)
c.1254G>A (p.Lys418=)
c.1233G>A (p.Lys411=)
c.1230G>A (p.Lys410=)
c.1212G>A (p.Lys404=)
c.1176G>A (p.Lys392=)
c.1155G>A (p.Lys385=)
c.421+30664C>T (n.421+30664C>T)
n.440+30664C>T
n.242+38059C>T
c.918G>A (p.Lys306=)
c.1332G>A (p.Lys444=)
 dbSNP gnomAD v2 gnomAD v4
6g.32293474T>ACA363561713TSBP1,TSBP1-AS1c.1193A>T (p.Lys398Met)
c.1196A>T (p.Lys399Met)
c.1172A>T (p.Lys391Met)
c.1199A>T (p.Lys400Met)
c.1151A>T (p.Lys384Met)
c.1184A>T (p.Lys395Met)
c.1253A>T (p.Lys418Met)
c.1232A>T (p.Lys411Met)
c.1229A>T (p.Lys410Met)
c.1211A>T (p.Lys404Met)
c.1175A>T (p.Lys392Met)
c.1154A>T (p.Lys385Met)
c.421+30665T>A (n.421+30665T>A)
n.440+30665T>A
n.242+38060T>A
c.917A>T (p.Lys306Met)
c.1331A>T (p.Lys444Met)
6g.32293474T>CCA3740511TSBP1,TSBP1-AS1c.1193A>G (p.Lys398Arg)
c.1196A>G (p.Lys399Arg)
c.1172A>G (p.Lys391Arg)
c.1199A>G (p.Lys400Arg)
c.1151A>G (p.Lys384Arg)
c.1184A>G (p.Lys395Arg)
c.1253A>G (p.Lys418Arg)
c.1232A>G (p.Lys411Arg)
c.1229A>G (p.Lys410Arg)
c.1211A>G (p.Lys404Arg)
c.1175A>G (p.Lys392Arg)
c.1154A>G (p.Lys385Arg)
c.421+30665T>C (n.421+30665T>C)
n.440+30665T>C
n.242+38060T>C
c.917A>G (p.Lys306Arg)
c.1331A>G (p.Lys444Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32293474T>GCA363561714TSBP1,TSBP1-AS1c.1193A>C (p.Lys398Thr)
c.1196A>C (p.Lys399Thr)
c.1172A>C (p.Lys391Thr)
c.1199A>C (p.Lys400Thr)
c.1151A>C (p.Lys384Thr)
c.1184A>C (p.Lys395Thr)
c.1253A>C (p.Lys418Thr)
c.1232A>C (p.Lys411Thr)
c.1229A>C (p.Lys410Thr)
c.1211A>C (p.Lys404Thr)
c.1175A>C (p.Lys392Thr)
c.1154A>C (p.Lys385Thr)
c.421+30665T>G (n.421+30665T>G)
n.440+30665T>G
n.242+38060T>G
c.917A>C (p.Lys306Thr)
c.1331A>C (p.Lys444Thr)
6g.32293474T=CA1619500841TSBP1,TSBP1-AS1c.1193A= (p.Lys398=)
c.1196A= (p.Lys399=)
c.1172A= (p.Lys391=)
c.1199A= (p.Lys400=)
c.1151A= (p.Lys384=)
c.1184A= (p.Lys395=)
c.1253A= (p.Lys418=)
c.1232A= (p.Lys411=)
c.1229A= (p.Lys410=)
c.1211A= (p.Lys404=)
c.1175A= (p.Lys392=)
c.1154A= (p.Lys385=)
c.421+30665T= (n.421+30665T=)
n.440+30665T=
n.242+38060T=
c.917A= (p.Lys306=)
c.1331A= (p.Lys444=)
6g.32293475T>ACA363561716TSBP1,TSBP1-AS1c.1192A>T (p.Lys398Ter)
c.1195A>T (p.Lys399Ter)
c.1171A>T (p.Lys391Ter)
c.1198A>T (p.Lys400Ter)
c.1150A>T (p.Lys384Ter)
c.1183A>T (p.Lys395Ter)
c.1252A>T (p.Lys418Ter)
c.1231A>T (p.Lys411Ter)
c.1228A>T (p.Lys410Ter)
c.1210A>T (p.Lys404Ter)
c.1174A>T (p.Lys392Ter)
c.1153A>T (p.Lys385Ter)
c.421+30666T>A (n.421+30666T>A)
n.440+30666T>A
n.242+38061T>A
c.916A>T (p.Lys306Ter)
c.1330A>T (p.Lys444Ter)
6g.32293475T>CCA363561715TSBP1,TSBP1-AS1c.1192A>G (p.Lys398Glu)
c.1195A>G (p.Lys399Glu)
c.1171A>G (p.Lys391Glu)
c.1198A>G (p.Lys400Glu)
c.1150A>G (p.Lys384Glu)
c.1183A>G (p.Lys395Glu)
c.1252A>G (p.Lys418Glu)
c.1231A>G (p.Lys411Glu)
c.1228A>G (p.Lys410Glu)
c.1210A>G (p.Lys404Glu)
c.1174A>G (p.Lys392Glu)
c.1153A>G (p.Lys385Glu)
c.421+30666T>C (n.421+30666T>C)
n.440+30666T>C
n.242+38061T>C
c.916A>G (p.Lys306Glu)
c.1330A>G (p.Lys444Glu)
 COSMIC
6g.32293475T>GCA3740512TSBP1,TSBP1-AS1c.1192A>C (p.Lys398Gln)
c.1195A>C (p.Lys399Gln)
c.1171A>C (p.Lys391Gln)
c.1198A>C (p.Lys400Gln)
c.1150A>C (p.Lys384Gln)
c.1183A>C (p.Lys395Gln)
c.1252A>C (p.Lys418Gln)
c.1231A>C (p.Lys411Gln)
c.1228A>C (p.Lys410Gln)
c.1210A>C (p.Lys404Gln)
c.1174A>C (p.Lys392Gln)
c.1153A>C (p.Lys385Gln)
c.421+30666T>G (n.421+30666T>G)
n.440+30666T>G
n.242+38061T>G
c.916A>C (p.Lys306Gln)
c.1330A>C (p.Lys444Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293475T=CA1619500842TSBP1,TSBP1-AS1c.1192A= (p.Lys398=)
c.1195A= (p.Lys399=)
c.1171A= (p.Lys391=)
c.1198A= (p.Lys400=)
c.1150A= (p.Lys384=)
c.1183A= (p.Lys395=)
c.1252A= (p.Lys418=)
c.1231A= (p.Lys411=)
c.1228A= (p.Lys410=)
c.1210A= (p.Lys404=)
c.1174A= (p.Lys392=)
c.1153A= (p.Lys385=)
c.421+30666T= (n.421+30666T=)
n.440+30666T=
n.242+38061T=
c.916A= (p.Lys306=)
c.1330A= (p.Lys444=)
6g.32293476C>ACA363561717TSBP1,TSBP1-AS1c.1191G>T (p.Lys397Asn)
c.1194G>T (p.Lys398Asn)
c.1170G>T (p.Lys390Asn)
c.1197G>T (p.Lys399Asn)
c.1149G>T (p.Lys383Asn)
c.1182G>T (p.Lys394Asn)
c.1251G>T (p.Lys417Asn)
c.1230G>T (p.Lys410Asn)
c.1227G>T (p.Lys409Asn)
c.1209G>T (p.Lys403Asn)
c.1173G>T (p.Lys391Asn)
c.1152G>T (p.Lys384Asn)
c.421+30667C>A (n.421+30667C>A)
n.440+30667C>A
n.242+38062C>A
c.915G>T (p.Lys305Asn)
c.1329G>T (p.Lys443Asn)
6g.32293476C=CA1619500843TSBP1,TSBP1-AS1c.1191G= (p.Lys397=)
c.1194G= (p.Lys398=)
c.1170G= (p.Lys390=)
c.1197G= (p.Lys399=)
c.1149G= (p.Lys383=)
c.1182G= (p.Lys394=)
c.1251G= (p.Lys417=)
c.1230G= (p.Lys410=)
c.1227G= (p.Lys409=)
c.1209G= (p.Lys403=)
c.1173G= (p.Lys391=)
c.1152G= (p.Lys384=)
c.421+30667C= (n.421+30667C=)
n.440+30667C=
n.242+38062C=
c.915G= (p.Lys305=)
c.1329G= (p.Lys443=)
6g.32293476C>GCA363561718TSBP1,TSBP1-AS1c.1191G>C (p.Lys397Asn)
c.1194G>C (p.Lys398Asn)
c.1170G>C (p.Lys390Asn)
c.1197G>C (p.Lys399Asn)
c.1149G>C (p.Lys383Asn)
c.1182G>C (p.Lys394Asn)
c.1251G>C (p.Lys417Asn)
c.1230G>C (p.Lys410Asn)
c.1227G>C (p.Lys409Asn)
c.1209G>C (p.Lys403Asn)
c.1173G>C (p.Lys391Asn)
c.1152G>C (p.Lys384Asn)
c.421+30667C>G (n.421+30667C>G)
n.440+30667C>G
n.242+38062C>G
c.915G>C (p.Lys305Asn)
c.1329G>C (p.Lys443Asn)
 dbSNP
6g.32293476C>TCA449829780TSBP1,TSBP1-AS1c.1191G>A (p.Lys397=)
c.1194G>A (p.Lys398=)
c.1170G>A (p.Lys390=)
c.1197G>A (p.Lys399=)
c.1149G>A (p.Lys383=)
c.1182G>A (p.Lys394=)
c.1251G>A (p.Lys417=)
c.1230G>A (p.Lys410=)
c.1227G>A (p.Lys409=)
c.1209G>A (p.Lys403=)
c.1173G>A (p.Lys391=)
c.1152G>A (p.Lys384=)
c.421+30667C>T (n.421+30667C>T)
n.440+30667C>T
n.242+38062C>T
c.915G>A (p.Lys305=)
c.1329G>A (p.Lys443=)
6g.32293477T>ACA363561719TSBP1,TSBP1-AS1c.1190A>T (p.Lys397Met)
c.1193A>T (p.Lys398Met)
c.1169A>T (p.Lys390Met)
c.1196A>T (p.Lys399Met)
c.1148A>T (p.Lys383Met)
c.1181A>T (p.Lys394Met)
c.1250A>T (p.Lys417Met)
c.1229A>T (p.Lys410Met)
c.1226A>T (p.Lys409Met)
c.1208A>T (p.Lys403Met)
c.1172A>T (p.Lys391Met)
c.1151A>T (p.Lys384Met)
c.421+30668T>A (n.421+30668T>A)
n.440+30668T>A
n.242+38063T>A
c.914A>T (p.Lys305Met)
c.1328A>T (p.Lys443Met)
6g.32293477T>CCA363561720TSBP1,TSBP1-AS1c.1190A>G (p.Lys397Arg)
c.1193A>G (p.Lys398Arg)
c.1169A>G (p.Lys390Arg)
c.1196A>G (p.Lys399Arg)
c.1148A>G (p.Lys383Arg)
c.1181A>G (p.Lys394Arg)
c.1250A>G (p.Lys417Arg)
c.1229A>G (p.Lys410Arg)
c.1226A>G (p.Lys409Arg)
c.1208A>G (p.Lys403Arg)
c.1172A>G (p.Lys391Arg)
c.1151A>G (p.Lys384Arg)
c.421+30668T>C (n.421+30668T>C)
n.440+30668T>C
n.242+38063T>C
c.914A>G (p.Lys305Arg)
c.1328A>G (p.Lys443Arg)
6g.32293477T>GCA136929607TSBP1,TSBP1-AS1c.1190A>C (p.Lys397Thr)
c.1193A>C (p.Lys398Thr)
c.1169A>C (p.Lys390Thr)
c.1196A>C (p.Lys399Thr)
c.1148A>C (p.Lys383Thr)
c.1181A>C (p.Lys394Thr)
c.1250A>C (p.Lys417Thr)
c.1229A>C (p.Lys410Thr)
c.1226A>C (p.Lys409Thr)
c.1208A>C (p.Lys403Thr)
c.1172A>C (p.Lys391Thr)
c.1151A>C (p.Lys384Thr)
c.421+30668T>G (n.421+30668T>G)
n.440+30668T>G
n.242+38063T>G
c.914A>C (p.Lys305Thr)
c.1328A>C (p.Lys443Thr)
 dbSNP
6g.32293477T=CA1619500844TSBP1,TSBP1-AS1c.1190A= (p.Lys397=)
c.1193A= (p.Lys398=)
c.1169A= (p.Lys390=)
c.1196A= (p.Lys399=)
c.1148A= (p.Lys383=)
c.1181A= (p.Lys394=)
c.1250A= (p.Lys417=)
c.1229A= (p.Lys410=)
c.1226A= (p.Lys409=)
c.1208A= (p.Lys403=)
c.1172A= (p.Lys391=)
c.1151A= (p.Lys384=)
c.421+30668T= (n.421+30668T=)
n.440+30668T=
n.242+38063T=
c.914A= (p.Lys305=)
c.1328A= (p.Lys443=)
6g.32293478T>ACA363561721TSBP1,TSBP1-AS1c.1189A>T (p.Lys397Ter)
c.1192A>T (p.Lys398Ter)
c.1168A>T (p.Lys390Ter)
c.1195A>T (p.Lys399Ter)
c.1147A>T (p.Lys383Ter)
c.1180A>T (p.Lys394Ter)
c.1249A>T (p.Lys417Ter)
c.1228A>T (p.Lys410Ter)
c.1225A>T (p.Lys409Ter)
c.1207A>T (p.Lys403Ter)
c.1171A>T (p.Lys391Ter)
c.1150A>T (p.Lys384Ter)
c.421+30669T>A (n.421+30669T>A)
n.440+30669T>A
n.242+38064T>A
c.913A>T (p.Lys305Ter)
c.1327A>T (p.Lys443Ter)
6g.32293478T>CCA363561722TSBP1,TSBP1-AS1c.1189A>G (p.Lys397Glu)
c.1192A>G (p.Lys398Glu)
c.1168A>G (p.Lys390Glu)
c.1195A>G (p.Lys399Glu)
c.1147A>G (p.Lys383Glu)
c.1180A>G (p.Lys394Glu)
c.1249A>G (p.Lys417Glu)
c.1228A>G (p.Lys410Glu)
c.1225A>G (p.Lys409Glu)
c.1207A>G (p.Lys403Glu)
c.1171A>G (p.Lys391Glu)
c.1150A>G (p.Lys384Glu)
c.421+30669T>C (n.421+30669T>C)
n.440+30669T>C
n.242+38064T>C
c.913A>G (p.Lys305Glu)
c.1327A>G (p.Lys443Glu)
 dbSNP
6g.32293478T>GCA363561723TSBP1,TSBP1-AS1c.1189A>C (p.Lys397Gln)
c.1192A>C (p.Lys398Gln)
c.1168A>C (p.Lys390Gln)
c.1195A>C (p.Lys399Gln)
c.1147A>C (p.Lys383Gln)
c.1180A>C (p.Lys394Gln)
c.1249A>C (p.Lys417Gln)
c.1228A>C (p.Lys410Gln)
c.1225A>C (p.Lys409Gln)
c.1207A>C (p.Lys403Gln)
c.1171A>C (p.Lys391Gln)
c.1150A>C (p.Lys384Gln)
c.421+30669T>G (n.421+30669T>G)
n.440+30669T>G
n.242+38064T>G
c.913A>C (p.Lys305Gln)
c.1327A>C (p.Lys443Gln)
6g.32293478T=CA1619500845TSBP1,TSBP1-AS1c.1189A= (p.Lys397=)
c.1192A= (p.Lys398=)
c.1168A= (p.Lys390=)
c.1195A= (p.Lys399=)
c.1147A= (p.Lys383=)
c.1180A= (p.Lys394=)
c.1249A= (p.Lys417=)
c.1228A= (p.Lys410=)
c.1225A= (p.Lys409=)
c.1207A= (p.Lys403=)
c.1171A= (p.Lys391=)
c.1150A= (p.Lys384=)
c.421+30669T= (n.421+30669T=)
n.440+30669T=
n.242+38064T=
c.913A= (p.Lys305=)
c.1327A= (p.Lys443=)
6g.32293479T>ACA449829781TSBP1,TSBP1-AS1c.1188A>T (p.Val396=)
c.1191A>T (p.Val397=)
c.1167A>T (p.Val389=)
c.1194A>T (p.Val398=)
c.1146A>T (p.Val382=)
c.1179A>T (p.Val393=)
c.1248A>T (p.Val416=)
c.1227A>T (p.Val409=)
c.1224A>T (p.Val408=)
c.1206A>T (p.Val402=)
c.1170A>T (p.Val390=)
c.1149A>T (p.Val383=)
c.421+30670T>A (n.421+30670T>A)
n.440+30670T>A
n.242+38065T>A
c.912A>T (p.Val304=)
c.1326A>T (p.Val442=)
6g.32293479T>CCA3740513TSBP1,TSBP1-AS1c.1188A>G (p.Val396=)
c.1191A>G (p.Val397=)
c.1167A>G (p.Val389=)
c.1194A>G (p.Val398=)
c.1146A>G (p.Val382=)
c.1179A>G (p.Val393=)
c.1248A>G (p.Val416=)
c.1227A>G (p.Val409=)
c.1224A>G (p.Val408=)
c.1206A>G (p.Val402=)
c.1170A>G (p.Val390=)
c.1149A>G (p.Val383=)
c.421+30670T>C (n.421+30670T>C)
n.440+30670T>C
n.242+38065T>C
c.912A>G (p.Val304=)
c.1326A>G (p.Val442=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32293479T>GCA449829784TSBP1,TSBP1-AS1c.1188A>C (p.Val396=)
c.1191A>C (p.Val397=)
c.1167A>C (p.Val389=)
c.1194A>C (p.Val398=)
c.1146A>C (p.Val382=)
c.1179A>C (p.Val393=)
c.1248A>C (p.Val416=)
c.1227A>C (p.Val409=)
c.1224A>C (p.Val408=)
c.1206A>C (p.Val402=)
c.1170A>C (p.Val390=)
c.1149A>C (p.Val383=)
c.421+30670T>G (n.421+30670T>G)
n.440+30670T>G
n.242+38065T>G
c.912A>C (p.Val304=)
c.1326A>C (p.Val442=)
6g.32293479T=CA1619500846TSBP1,TSBP1-AS1c.1188A= (p.Val396=)
c.1191A= (p.Val397=)
c.1167A= (p.Val389=)
c.1194A= (p.Val398=)
c.1146A= (p.Val382=)
c.1179A= (p.Val393=)
c.1248A= (p.Val416=)
c.1227A= (p.Val409=)
c.1224A= (p.Val408=)
c.1206A= (p.Val402=)
c.1170A= (p.Val390=)
c.1149A= (p.Val383=)
c.421+30670T= (n.421+30670T=)
n.440+30670T=
n.242+38065T=
c.912A= (p.Val304=)
c.1326A= (p.Val442=)
6g.32293480A>CCA363561724TSBP1,TSBP1-AS1c.1187T>G (p.Val396Gly)
c.1190T>G (p.Val397Gly)
c.1166T>G (p.Val389Gly)
c.1193T>G (p.Val398Gly)
c.1145T>G (p.Val382Gly)
c.1178T>G (p.Val393Gly)
c.1247T>G (p.Val416Gly)
c.1226T>G (p.Val409Gly)
c.1223T>G (p.Val408Gly)
c.1205T>G (p.Val402Gly)
c.1169T>G (p.Val390Gly)
c.1148T>G (p.Val383Gly)
c.421+30671A>C (n.421+30671A>C)
n.440+30671A>C
n.242+38066A>C
c.911T>G (p.Val304Gly)
c.1325T>G (p.Val442Gly)
6g.32293480A>GCA363561725TSBP1,TSBP1-AS1c.1187T>C (p.Val396Ala)
c.1190T>C (p.Val397Ala)
c.1166T>C (p.Val389Ala)
c.1193T>C (p.Val398Ala)
c.1145T>C (p.Val382Ala)
c.1178T>C (p.Val393Ala)
c.1247T>C (p.Val416Ala)
c.1226T>C (p.Val409Ala)
c.1223T>C (p.Val408Ala)
c.1205T>C (p.Val402Ala)
c.1169T>C (p.Val390Ala)
c.1148T>C (p.Val383Ala)
c.421+30671A>G (n.421+30671A>G)
n.440+30671A>G
n.242+38066A>G
c.911T>C (p.Val304Ala)
c.1325T>C (p.Val442Ala)
6g.32293480A>TCA363561726TSBP1,TSBP1-AS1c.1187T>A (p.Val396Glu)
c.1190T>A (p.Val397Glu)
c.1166T>A (p.Val389Glu)
c.1193T>A (p.Val398Glu)
c.1145T>A (p.Val382Glu)
c.1178T>A (p.Val393Glu)
c.1247T>A (p.Val416Glu)
c.1226T>A (p.Val409Glu)
c.1223T>A (p.Val408Glu)
c.1205T>A (p.Val402Glu)
c.1169T>A (p.Val390Glu)
c.1148T>A (p.Val383Glu)
c.421+30671A>T (n.421+30671A>T)
n.440+30671A>T
n.242+38066A>T
c.911T>A (p.Val304Glu)
c.1325T>A (p.Val442Glu)
 gnomAD v3 gnomAD v4
6g.32293481C>ACA363561728TSBP1,TSBP1-AS1c.1186G>T (p.Val396Leu)
c.1189G>T (p.Val397Leu)
c.1165G>T (p.Val389Leu)
c.1192G>T (p.Val398Leu)
c.1144G>T (p.Val382Leu)
c.1177G>T (p.Val393Leu)
c.1246G>T (p.Val416Leu)
c.1225G>T (p.Val409Leu)
c.1222G>T (p.Val408Leu)
c.1204G>T (p.Val402Leu)
c.1168G>T (p.Val390Leu)
c.1147G>T (p.Val383Leu)
c.421+30672C>A (n.421+30672C>A)
n.440+30672C>A
n.242+38067C>A
c.910G>T (p.Val304Leu)
c.1324G>T (p.Val442Leu)
6g.32293481C>GCA363561729TSBP1,TSBP1-AS1c.1186G>C (p.Val396Leu)
c.1189G>C (p.Val397Leu)
c.1165G>C (p.Val389Leu)
c.1192G>C (p.Val398Leu)
c.1144G>C (p.Val382Leu)
c.1177G>C (p.Val393Leu)
c.1246G>C (p.Val416Leu)
c.1225G>C (p.Val409Leu)
c.1222G>C (p.Val408Leu)
c.1204G>C (p.Val402Leu)
c.1168G>C (p.Val390Leu)
c.1147G>C (p.Val383Leu)
c.421+30672C>G (n.421+30672C>G)
n.440+30672C>G
n.242+38067C>G
c.910G>C (p.Val304Leu)
c.1324G>C (p.Val442Leu)
6g.32293481C>TCA363561727TSBP1,TSBP1-AS1c.1186G>A (p.Val396Ile)
c.1189G>A (p.Val397Ile)
c.1165G>A (p.Val389Ile)
c.1192G>A (p.Val398Ile)
c.1144G>A (p.Val382Ile)
c.1177G>A (p.Val393Ile)
c.1246G>A (p.Val416Ile)
c.1225G>A (p.Val409Ile)
c.1222G>A (p.Val408Ile)
c.1204G>A (p.Val402Ile)
c.1168G>A (p.Val390Ile)
c.1147G>A (p.Val383Ile)
c.421+30672C>T (n.421+30672C>T)
n.440+30672C>T
n.242+38067C>T
c.910G>A (p.Val304Ile)
c.1324G>A (p.Val442Ile)
 gnomAD v4
6g.32293482C>ACA363561731TSBP1,TSBP1-AS1c.1185G>T (p.Gln395His)
c.1188G>T (p.Gln396His)
c.1164G>T (p.Gln388His)
c.1191G>T (p.Gln397His)
c.1143G>T (p.Gln381His)
c.1176G>T (p.Gln392His)
c.1245G>T (p.Gln415His)
c.1224G>T (p.Gln408His)
c.1221G>T (p.Gln407His)
c.1203G>T (p.Gln401His)
c.1167G>T (p.Gln389His)
c.1146G>T (p.Gln382His)
c.421+30673C>A (n.421+30673C>A)
n.440+30673C>A
n.242+38068C>A
c.909G>T (p.Gln303His)
c.1323G>T (p.Gln441His)
6g.32293482C>GCA363561730TSBP1,TSBP1-AS1c.1185G>C (p.Gln395His)
c.1188G>C (p.Gln396His)
c.1164G>C (p.Gln388His)
c.1191G>C (p.Gln397His)
c.1143G>C (p.Gln381His)
c.1176G>C (p.Gln392His)
c.1245G>C (p.Gln415His)
c.1224G>C (p.Gln408His)
c.1221G>C (p.Gln407His)
c.1203G>C (p.Gln401His)
c.1167G>C (p.Gln389His)
c.1146G>C (p.Gln382His)
c.421+30673C>G (n.421+30673C>G)
n.440+30673C>G
n.242+38068C>G
c.909G>C (p.Gln303His)
c.1323G>C (p.Gln441His)
6g.32293482C>TCA449829788TSBP1,TSBP1-AS1c.1185G>A (p.Gln395=)
c.1188G>A (p.Gln396=)
c.1164G>A (p.Gln388=)
c.1191G>A (p.Gln397=)
c.1143G>A (p.Gln381=)
c.1176G>A (p.Gln392=)
c.1245G>A (p.Gln415=)
c.1224G>A (p.Gln408=)
c.1221G>A (p.Gln407=)
c.1203G>A (p.Gln401=)
c.1167G>A (p.Gln389=)
c.1146G>A (p.Gln382=)
c.421+30673C>T (n.421+30673C>T)
n.440+30673C>T
n.242+38068C>T
c.909G>A (p.Gln303=)
c.1323G>A (p.Gln441=)
6g.32293483T>ACA363561734TSBP1,TSBP1-AS1c.1184A>T (p.Gln395Leu)
c.1187A>T (p.Gln396Leu)
c.1163A>T (p.Gln388Leu)
c.1190A>T (p.Gln397Leu)
c.1142A>T (p.Gln381Leu)
c.1175A>T (p.Gln392Leu)
c.1244A>T (p.Gln415Leu)
c.1223A>T (p.Gln408Leu)
c.1220A>T (p.Gln407Leu)
c.1202A>T (p.Gln401Leu)
c.1166A>T (p.Gln389Leu)
c.1145A>T (p.Gln382Leu)
c.421+30674T>A (n.421+30674T>A)
n.440+30674T>A
n.242+38069T>A
c.908A>T (p.Gln303Leu)
c.1322A>T (p.Gln441Leu)
 COSMIC
6g.32293483T>CCA363561732TSBP1,TSBP1-AS1c.1184A>G (p.Gln395Arg)
c.1187A>G (p.Gln396Arg)
c.1163A>G (p.Gln388Arg)
c.1190A>G (p.Gln397Arg)
c.1142A>G (p.Gln381Arg)
c.1175A>G (p.Gln392Arg)
c.1244A>G (p.Gln415Arg)
c.1223A>G (p.Gln408Arg)
c.1220A>G (p.Gln407Arg)
c.1202A>G (p.Gln401Arg)
c.1166A>G (p.Gln389Arg)
c.1145A>G (p.Gln382Arg)
c.421+30674T>C (n.421+30674T>C)
n.440+30674T>C
n.242+38069T>C
c.908A>G (p.Gln303Arg)
c.1322A>G (p.Gln441Arg)
6g.32293483T>GCA363561733TSBP1,TSBP1-AS1c.1184A>C (p.Gln395Pro)
c.1187A>C (p.Gln396Pro)
c.1163A>C (p.Gln388Pro)
c.1190A>C (p.Gln397Pro)
c.1142A>C (p.Gln381Pro)
c.1175A>C (p.Gln392Pro)
c.1244A>C (p.Gln415Pro)
c.1223A>C (p.Gln408Pro)
c.1220A>C (p.Gln407Pro)
c.1202A>C (p.Gln401Pro)
c.1166A>C (p.Gln389Pro)
c.1145A>C (p.Gln382Pro)
c.421+30674T>G (n.421+30674T>G)
n.440+30674T>G
n.242+38069T>G
c.908A>C (p.Gln303Pro)
c.1322A>C (p.Gln441Pro)
6g.32293484G>ACA363561735TSBP1,TSBP1-AS1c.1183C>T (p.Gln395Ter)
c.1186C>T (p.Gln396Ter)
c.1162C>T (p.Gln388Ter)
c.1189C>T (p.Gln397Ter)
c.1141C>T (p.Gln381Ter)
c.1174C>T (p.Gln392Ter)
c.1243C>T (p.Gln415Ter)
c.1222C>T (p.Gln408Ter)
c.1219C>T (p.Gln407Ter)
c.1201C>T (p.Gln401Ter)
c.1165C>T (p.Gln389Ter)
c.1144C>T (p.Gln382Ter)
c.421+30675G>A (n.421+30675G>A)
n.440+30675G>A
n.242+38070G>A
c.907C>T (p.Gln303Ter)
c.1321C>T (p.Gln441Ter)
6g.32293484G>CCA363561736TSBP1,TSBP1-AS1c.1183C>G (p.Gln395Glu)
c.1186C>G (p.Gln396Glu)
c.1162C>G (p.Gln388Glu)
c.1189C>G (p.Gln397Glu)
c.1141C>G (p.Gln381Glu)
c.1174C>G (p.Gln392Glu)
c.1243C>G (p.Gln415Glu)
c.1222C>G (p.Gln408Glu)
c.1219C>G (p.Gln407Glu)
c.1201C>G (p.Gln401Glu)
c.1165C>G (p.Gln389Glu)
c.1144C>G (p.Gln382Glu)
c.421+30675G>C (n.421+30675G>C)
n.440+30675G>C
n.242+38070G>C
c.907C>G (p.Gln303Glu)
c.1321C>G (p.Gln441Glu)
6g.32293484G>TCA363561737TSBP1,TSBP1-AS1c.1183C>A (p.Gln395Lys)
c.1186C>A (p.Gln396Lys)
c.1162C>A (p.Gln388Lys)
c.1189C>A (p.Gln397Lys)
c.1141C>A (p.Gln381Lys)
c.1174C>A (p.Gln392Lys)
c.1243C>A (p.Gln415Lys)
c.1222C>A (p.Gln408Lys)
c.1219C>A (p.Gln407Lys)
c.1201C>A (p.Gln401Lys)
c.1165C>A (p.Gln389Lys)
c.1144C>A (p.Gln382Lys)
c.421+30675G>T (n.421+30675G>T)
n.440+30675G>T
n.242+38070G>T
c.907C>A (p.Gln303Lys)
c.1321C>A (p.Gln441Lys)
6g.32293485G>ACA449829794TSBP1,TSBP1-AS1c.1182C>T (p.Ala394=)
c.1185C>T (p.Ala395=)
c.1161C>T (p.Ala387=)
c.1188C>T (p.Ala396=)
c.1140C>T (p.Ala380=)
c.1173C>T (p.Ala391=)
c.1242C>T (p.Ala414=)
c.1221C>T (p.Ala407=)
c.1218C>T (p.Ala406=)
c.1200C>T (p.Ala400=)
c.1164C>T (p.Ala388=)
c.1143C>T (p.Ala381=)
c.421+30676G>A (n.421+30676G>A)
n.440+30676G>A
n.242+38071G>A
c.906C>T (p.Ala302=)
c.1320C>T (p.Ala440=)
6g.32293485G>CCA449829790TSBP1,TSBP1-AS1c.1182C>G (p.Ala394=)
c.1185C>G (p.Ala395=)
c.1161C>G (p.Ala387=)
c.1188C>G (p.Ala396=)
c.1140C>G (p.Ala380=)
c.1173C>G (p.Ala391=)
c.1242C>G (p.Ala414=)
c.1221C>G (p.Ala407=)
c.1218C>G (p.Ala406=)
c.1200C>G (p.Ala400=)
c.1164C>G (p.Ala388=)
c.1143C>G (p.Ala381=)
c.421+30676G>C (n.421+30676G>C)
n.440+30676G>C
n.242+38071G>C
c.906C>G (p.Ala302=)
c.1320C>G (p.Ala440=)
6g.32293485G>TCA449829792TSBP1,TSBP1-AS1c.1182C>A (p.Ala394=)
c.1185C>A (p.Ala395=)
c.1161C>A (p.Ala387=)
c.1188C>A (p.Ala396=)
c.1140C>A (p.Ala380=)
c.1173C>A (p.Ala391=)
c.1242C>A (p.Ala414=)
c.1221C>A (p.Ala407=)
c.1218C>A (p.Ala406=)
c.1200C>A (p.Ala400=)
c.1164C>A (p.Ala388=)
c.1143C>A (p.Ala381=)
c.421+30676G>T (n.421+30676G>T)
n.440+30676G>T
n.242+38071G>T
c.906C>A (p.Ala302=)
c.1320C>A (p.Ala440=)
6g.32293486G>ACA363561738TSBP1,TSBP1-AS1c.1181C>T (p.Ala394Val)
c.1184C>T (p.Ala395Val)
c.1160C>T (p.Ala387Val)
c.1187C>T (p.Ala396Val)
c.1139C>T (p.Ala380Val)
c.1172C>T (p.Ala391Val)
c.1241C>T (p.Ala414Val)
c.1220C>T (p.Ala407Val)
c.1217C>T (p.Ala406Val)
c.1199C>T (p.Ala400Val)
c.1163C>T (p.Ala388Val)
c.1142C>T (p.Ala381Val)
c.421+30677G>A (n.421+30677G>A)
n.440+30677G>A
n.242+38072G>A
c.905C>T (p.Ala302Val)
c.1319C>T (p.Ala440Val)
 gnomAD v4
6g.32293486G>CCA363561739TSBP1,TSBP1-AS1c.1181C>G (p.Ala394Gly)
c.1184C>G (p.Ala395Gly)
c.1160C>G (p.Ala387Gly)
c.1187C>G (p.Ala396Gly)
c.1139C>G (p.Ala380Gly)
c.1172C>G (p.Ala391Gly)
c.1241C>G (p.Ala414Gly)
c.1220C>G (p.Ala407Gly)
c.1217C>G (p.Ala406Gly)
c.1199C>G (p.Ala400Gly)
c.1163C>G (p.Ala388Gly)
c.1142C>G (p.Ala381Gly)
c.421+30677G>C (n.421+30677G>C)
n.440+30677G>C
n.242+38072G>C
c.905C>G (p.Ala302Gly)
c.1319C>G (p.Ala440Gly)
6g.32293486G>TCA363561740TSBP1,TSBP1-AS1c.1181C>A (p.Ala394Asp)
c.1184C>A (p.Ala395Asp)
c.1160C>A (p.Ala387Asp)
c.1187C>A (p.Ala396Asp)
c.1139C>A (p.Ala380Asp)
c.1172C>A (p.Ala391Asp)
c.1241C>A (p.Ala414Asp)
c.1220C>A (p.Ala407Asp)
c.1217C>A (p.Ala406Asp)
c.1199C>A (p.Ala400Asp)
c.1163C>A (p.Ala388Asp)
c.1142C>A (p.Ala381Asp)
c.421+30677G>T (n.421+30677G>T)
n.440+30677G>T
n.242+38072G>T
c.905C>A (p.Ala302Asp)
c.1319C>A (p.Ala440Asp)
6g.32293487C>ACA363561741TSBP1,TSBP1-AS1c.1180G>T (p.Ala394Ser)
c.1183G>T (p.Ala395Ser)
c.1159G>T (p.Ala387Ser)
c.1186G>T (p.Ala396Ser)
c.1138G>T (p.Ala380Ser)
c.1171G>T (p.Ala391Ser)
c.1240G>T (p.Ala414Ser)
c.1219G>T (p.Ala407Ser)
c.1216G>T (p.Ala406Ser)
c.1198G>T (p.Ala400Ser)
c.1162G>T (p.Ala388Ser)
c.1141G>T (p.Ala381Ser)
c.421+30678C>A (n.421+30678C>A)
n.440+30678C>A
n.242+38073C>A
c.904G>T (p.Ala302Ser)
c.1318G>T (p.Ala440Ser)
6g.32293487C>GCA363561742TSBP1,TSBP1-AS1c.1180G>C (p.Ala394Pro)
c.1183G>C (p.Ala395Pro)
c.1159G>C (p.Ala387Pro)
c.1186G>C (p.Ala396Pro)
c.1138G>C (p.Ala380Pro)
c.1171G>C (p.Ala391Pro)
c.1240G>C (p.Ala414Pro)
c.1219G>C (p.Ala407Pro)
c.1216G>C (p.Ala406Pro)
c.1198G>C (p.Ala400Pro)
c.1162G>C (p.Ala388Pro)
c.1141G>C (p.Ala381Pro)
c.421+30678C>G (n.421+30678C>G)
n.440+30678C>G
n.242+38073C>G
c.904G>C (p.Ala302Pro)
c.1318G>C (p.Ala440Pro)
6g.32293487C>TCA363561743TSBP1,TSBP1-AS1c.1180G>A (p.Ala394Thr)
c.1183G>A (p.Ala395Thr)
c.1159G>A (p.Ala387Thr)
c.1186G>A (p.Ala396Thr)
c.1138G>A (p.Ala380Thr)
c.1171G>A (p.Ala391Thr)
c.1240G>A (p.Ala414Thr)
c.1219G>A (p.Ala407Thr)
c.1216G>A (p.Ala406Thr)
c.1198G>A (p.Ala400Thr)
c.1162G>A (p.Ala388Thr)
c.1141G>A (p.Ala381Thr)
c.421+30678C>T (n.421+30678C>T)
n.440+30678C>T
n.242+38073C>T
c.904G>A (p.Ala302Thr)
c.1318G>A (p.Ala440Thr)
6g.32293487_32293488delinsCTCA1619500847TSBP1,TSBP1-AS1c.1179_1180delinsAG (p.Glu393=)
c.1182_1183delinsAG (p.Glu394=)
c.1158_1159delinsAG (p.Glu386=)
c.1185_1186delinsAG (p.Glu395=)
c.1137_1138delinsAG (p.Glu379=)
c.1170_1171delinsAG (p.Glu390=)
c.1239_1240delinsAG (p.Glu413=)
c.1218_1219delinsAG (p.Glu406=)
c.1215_1216delinsAG (p.Glu405=)
c.1197_1198delinsAG (p.Glu399=)
c.1161_1162delinsAG (p.Glu387=)
c.1140_1141delinsAG (p.Glu380=)
c.421+30678_421+30679delinsCT (n.421+30678_421+30679delinsCT)
n.440+30678_440+30679delinsCT
n.242+38073_242+38074delinsCT
c.903_904delinsAG (p.Glu301=)
c.1317_1318delinsAG (p.Glu439=)
6g.32293488T>ACA363561745TSBP1,TSBP1-AS1c.1179A>T (p.Glu393Asp)
c.1182A>T (p.Glu394Asp)
c.1158A>T (p.Glu386Asp)
c.1185A>T (p.Glu395Asp)
c.1137A>T (p.Glu379Asp)
c.1170A>T (p.Glu390Asp)
c.1239A>T (p.Glu413Asp)
c.1218A>T (p.Glu406Asp)
c.1215A>T (p.Glu405Asp)
c.1197A>T (p.Glu399Asp)
c.1161A>T (p.Glu387Asp)
c.1140A>T (p.Glu380Asp)
c.421+30679T>A (n.421+30679T>A)
n.440+30679T>A
n.242+38074T>A
c.903A>T (p.Glu301Asp)
c.1317A>T (p.Glu439Asp)
6g.32293488T>CCA449829795TSBP1,TSBP1-AS1c.1179A>G (p.Glu393=)
c.1182A>G (p.Glu394=)
c.1158A>G (p.Glu386=)
c.1185A>G (p.Glu395=)
c.1137A>G (p.Glu379=)
c.1170A>G (p.Glu390=)
c.1239A>G (p.Glu413=)
c.1218A>G (p.Glu406=)
c.1215A>G (p.Glu405=)
c.1197A>G (p.Glu399=)
c.1161A>G (p.Glu387=)
c.1140A>G (p.Glu380=)
c.421+30679T>C (n.421+30679T>C)
n.440+30679T>C
n.242+38074T>C
c.903A>G (p.Glu301=)
c.1317A>G (p.Glu439=)
6g.32293488T>GCA363561744TSBP1,TSBP1-AS1c.1179A>C (p.Glu393Asp)
c.1182A>C (p.Glu394Asp)
c.1158A>C (p.Glu386Asp)
c.1185A>C (p.Glu395Asp)
c.1137A>C (p.Glu379Asp)
c.1170A>C (p.Glu390Asp)
c.1239A>C (p.Glu413Asp)
c.1218A>C (p.Glu406Asp)
c.1215A>C (p.Glu405Asp)
c.1197A>C (p.Glu399Asp)
c.1161A>C (p.Glu387Asp)
c.1140A>C (p.Glu380Asp)
c.421+30679T>G (n.421+30679T>G)
n.440+30679T>G
n.242+38074T>G
c.903A>C (p.Glu301Asp)
c.1317A>C (p.Glu439Asp)
6g.32293489delCA1087516241TSBP1,TSBP1-AS1c.1179del (p.Ala394ProfsTer3)
c.1182del (p.Ala395ProfsTer3)
c.1158del (p.Ala387ProfsTer3)
c.1185del (p.Ala396ProfsTer3)
c.1137del (p.Ala380ProfsTer3)
c.1170del (p.Ala391ProfsTer3)
c.1239del (p.Ala414ProfsTer3)
c.1218del (p.Ala407ProfsTer3)
c.1215del (p.Ala406ProfsTer3)
c.1197del (p.Ala400ProfsTer3)
c.1161del (p.Ala388ProfsTer3)
c.1140del (p.Ala381ProfsTer3)
c.421+30680del (n.421+30680del)
n.440+30680del
n.242+38075del
c.903del (p.Ala302ProfsTer3)
c.1317del (p.Ala440ProfsTer3)
 dbSNP
6g.32293489T>ACA363561746TSBP1,TSBP1-AS1c.1178A>T (p.Glu393Val)
c.1181A>T (p.Glu394Val)
c.1157A>T (p.Glu386Val)
c.1184A>T (p.Glu395Val)
c.1136A>T (p.Glu379Val)
c.1169A>T (p.Glu390Val)
c.1238A>T (p.Glu413Val)
c.1217A>T (p.Glu406Val)
c.1214A>T (p.Glu405Val)
c.1196A>T (p.Glu399Val)
c.1160A>T (p.Glu387Val)
c.1139A>T (p.Glu380Val)
c.421+30680T>A (n.421+30680T>A)
n.440+30680T>A
n.242+38075T>A
c.902A>T (p.Glu301Val)
c.1316A>T (p.Glu439Val)
6g.32293489T>CCA3740514TSBP1,TSBP1-AS1c.1178A>G (p.Glu393Gly)
c.1181A>G (p.Glu394Gly)
c.1157A>G (p.Glu386Gly)
c.1184A>G (p.Glu395Gly)
c.1136A>G (p.Glu379Gly)
c.1169A>G (p.Glu390Gly)
c.1238A>G (p.Glu413Gly)
c.1217A>G (p.Glu406Gly)
c.1214A>G (p.Glu405Gly)
c.1196A>G (p.Glu399Gly)
c.1160A>G (p.Glu387Gly)
c.1139A>G (p.Glu380Gly)
c.421+30680T>C (n.421+30680T>C)
n.440+30680T>C
n.242+38075T>C
c.902A>G (p.Glu301Gly)
c.1316A>G (p.Glu439Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293489T>GCA363561747TSBP1,TSBP1-AS1c.1178A>C (p.Glu393Ala)
c.1181A>C (p.Glu394Ala)
c.1157A>C (p.Glu386Ala)
c.1184A>C (p.Glu395Ala)
c.1136A>C (p.Glu379Ala)
c.1169A>C (p.Glu390Ala)
c.1238A>C (p.Glu413Ala)
c.1217A>C (p.Glu406Ala)
c.1214A>C (p.Glu405Ala)
c.1196A>C (p.Glu399Ala)
c.1160A>C (p.Glu387Ala)
c.1139A>C (p.Glu380Ala)
c.421+30680T>G (n.421+30680T>G)
n.440+30680T>G
n.242+38075T>G
c.902A>C (p.Glu301Ala)
c.1316A>C (p.Glu439Ala)
6g.32293489T=CA1619500848TSBP1,TSBP1-AS1c.1178A= (p.Glu393=)
c.1181A= (p.Glu394=)
c.1157A= (p.Glu386=)
c.1184A= (p.Glu395=)
c.1136A= (p.Glu379=)
c.1169A= (p.Glu390=)
c.1238A= (p.Glu413=)
c.1217A= (p.Glu406=)
c.1214A= (p.Glu405=)
c.1196A= (p.Glu399=)
c.1160A= (p.Glu387=)
c.1139A= (p.Glu380=)
c.421+30680T= (n.421+30680T=)
n.440+30680T=
n.242+38075T=
c.902A= (p.Glu301=)
c.1316A= (p.Glu439=)
6g.32293490C>ACA363561748TSBP1,TSBP1-AS1c.1177G>T (p.Glu393Ter)
c.1180G>T (p.Glu394Ter)
c.1156G>T (p.Glu386Ter)
c.1183G>T (p.Glu395Ter)
c.1135G>T (p.Glu379Ter)
c.1168G>T (p.Glu390Ter)
c.1237G>T (p.Glu413Ter)
c.1216G>T (p.Glu406Ter)
c.1213G>T (p.Glu405Ter)
c.1195G>T (p.Glu399Ter)
c.1159G>T (p.Glu387Ter)
c.1138G>T (p.Glu380Ter)
c.421+30681C>A (n.421+30681C>A)
n.440+30681C>A
n.242+38076C>A
c.901G>T (p.Glu301Ter)
c.1315G>T (p.Glu439Ter)
6g.32293490C>GCA363561749TSBP1,TSBP1-AS1c.1177G>C (p.Glu393Gln)
c.1180G>C (p.Glu394Gln)
c.1156G>C (p.Glu386Gln)
c.1183G>C (p.Glu395Gln)
c.1135G>C (p.Glu379Gln)
c.1168G>C (p.Glu390Gln)
c.1237G>C (p.Glu413Gln)
c.1216G>C (p.Glu406Gln)
c.1213G>C (p.Glu405Gln)
c.1195G>C (p.Glu399Gln)
c.1159G>C (p.Glu387Gln)
c.1138G>C (p.Glu380Gln)
c.421+30681C>G (n.421+30681C>G)
n.440+30681C>G
n.242+38076C>G
c.901G>C (p.Glu301Gln)
c.1315G>C (p.Glu439Gln)
6g.32293490C>TCA363561750TSBP1,TSBP1-AS1c.1177G>A (p.Glu393Lys)
c.1180G>A (p.Glu394Lys)
c.1156G>A (p.Glu386Lys)
c.1183G>A (p.Glu395Lys)
c.1135G>A (p.Glu379Lys)
c.1168G>A (p.Glu390Lys)
c.1237G>A (p.Glu413Lys)
c.1216G>A (p.Glu406Lys)
c.1213G>A (p.Glu405Lys)
c.1195G>A (p.Glu399Lys)
c.1159G>A (p.Glu387Lys)
c.1138G>A (p.Glu380Lys)
c.421+30681C>T (n.421+30681C>T)
n.440+30681C>T
n.242+38076C>T
c.901G>A (p.Glu301Lys)
c.1315G>A (p.Glu439Lys)
 gnomAD v4
6g.32293491C>ACA363561751TSBP1,TSBP1-AS1c.1176G>T (p.Gln392His)
c.1179G>T (p.Gln393His)
c.1155G>T (p.Gln385His)
c.1182G>T (p.Gln394His)
c.1134G>T (p.Gln378His)
c.1167G>T (p.Gln389His)
c.1236G>T (p.Gln412His)
c.1215G>T (p.Gln405His)
c.1212G>T (p.Gln404His)
c.1194G>T (p.Gln398His)
c.1158G>T (p.Gln386His)
c.1137G>T (p.Gln379His)
c.421+30682C>A (n.421+30682C>A)
n.440+30682C>A
n.242+38077C>A
c.900G>T (p.Gln300His)
c.1314G>T (p.Gln438His)
6g.32293491C=CA1619500849TSBP1,TSBP1-AS1c.1176G= (p.Gln392=)
c.1179G= (p.Gln393=)
c.1155G= (p.Gln385=)
c.1182G= (p.Gln394=)
c.1134G= (p.Gln378=)
c.1167G= (p.Gln389=)
c.1236G= (p.Gln412=)
c.1215G= (p.Gln405=)
c.1212G= (p.Gln404=)
c.1194G= (p.Gln398=)
c.1158G= (p.Gln386=)
c.1137G= (p.Gln379=)
c.421+30682C= (n.421+30682C=)
n.440+30682C=
n.242+38077C=
c.900G= (p.Gln300=)
c.1314G= (p.Gln438=)
6g.32293491C>GCA363561752TSBP1,TSBP1-AS1c.1176G>C (p.Gln392His)
c.1179G>C (p.Gln393His)
c.1155G>C (p.Gln385His)
c.1182G>C (p.Gln394His)
c.1134G>C (p.Gln378His)
c.1167G>C (p.Gln389His)
c.1236G>C (p.Gln412His)
c.1215G>C (p.Gln405His)
c.1212G>C (p.Gln404His)
c.1194G>C (p.Gln398His)
c.1158G>C (p.Gln386His)
c.1137G>C (p.Gln379His)
c.421+30682C>G (n.421+30682C>G)
n.440+30682C>G
n.242+38077C>G
c.900G>C (p.Gln300His)
c.1314G>C (p.Gln438His)
6g.32293491C>TCA136929627TSBP1,TSBP1-AS1c.1176G>A (p.Gln392=)
c.1179G>A (p.Gln393=)
c.1155G>A (p.Gln385=)
c.1182G>A (p.Gln394=)
c.1134G>A (p.Gln378=)
c.1167G>A (p.Gln389=)
c.1236G>A (p.Gln412=)
c.1215G>A (p.Gln405=)
c.1212G>A (p.Gln404=)
c.1194G>A (p.Gln398=)
c.1158G>A (p.Gln386=)
c.1137G>A (p.Gln379=)
c.421+30682C>T (n.421+30682C>T)
n.440+30682C>T
n.242+38077C>T
c.900G>A (p.Gln300=)
c.1314G>A (p.Gln438=)
 dbSNP
6g.32293492T>ACA363561753TSBP1,TSBP1-AS1c.1175A>T (p.Gln392Leu)
c.1178A>T (p.Gln393Leu)
c.1154A>T (p.Gln385Leu)
c.1181A>T (p.Gln394Leu)
c.1133A>T (p.Gln378Leu)
c.1166A>T (p.Gln389Leu)
c.1235A>T (p.Gln412Leu)
c.1214A>T (p.Gln405Leu)
c.1211A>T (p.Gln404Leu)
c.1193A>T (p.Gln398Leu)
c.1157A>T (p.Gln386Leu)
c.1136A>T (p.Gln379Leu)
c.421+30683T>A (n.421+30683T>A)
n.440+30683T>A
n.242+38078T>A
c.899A>T (p.Gln300Leu)
c.1313A>T (p.Gln438Leu)
6g.32293492T>CCA363561754TSBP1,TSBP1-AS1c.1175A>G (p.Gln392Arg)
c.1178A>G (p.Gln393Arg)
c.1154A>G (p.Gln385Arg)
c.1181A>G (p.Gln394Arg)
c.1133A>G (p.Gln378Arg)
c.1166A>G (p.Gln389Arg)
c.1235A>G (p.Gln412Arg)
c.1214A>G (p.Gln405Arg)
c.1211A>G (p.Gln404Arg)
c.1193A>G (p.Gln398Arg)
c.1157A>G (p.Gln386Arg)
c.1136A>G (p.Gln379Arg)
c.421+30683T>C (n.421+30683T>C)
n.440+30683T>C
n.242+38078T>C
c.899A>G (p.Gln300Arg)
c.1313A>G (p.Gln438Arg)
6g.32293492T>GCA363561755TSBP1,TSBP1-AS1c.1175A>C (p.Gln392Pro)
c.1178A>C (p.Gln393Pro)
c.1154A>C (p.Gln385Pro)
c.1181A>C (p.Gln394Pro)
c.1133A>C (p.Gln378Pro)
c.1166A>C (p.Gln389Pro)
c.1235A>C (p.Gln412Pro)
c.1214A>C (p.Gln405Pro)
c.1211A>C (p.Gln404Pro)
c.1193A>C (p.Gln398Pro)
c.1157A>C (p.Gln386Pro)
c.1136A>C (p.Gln379Pro)
c.421+30683T>G (n.421+30683T>G)
n.440+30683T>G
n.242+38078T>G
c.899A>C (p.Gln300Pro)
c.1313A>C (p.Gln438Pro)
6g.32293493G>ACA363561757TSBP1,TSBP1-AS1c.1174C>T (p.Gln392Ter)
c.1177C>T (p.Gln393Ter)
c.1153C>T (p.Gln385Ter)
c.1180C>T (p.Gln394Ter)
c.1132C>T (p.Gln378Ter)
c.1165C>T (p.Gln389Ter)
c.1234C>T (p.Gln412Ter)
c.1213C>T (p.Gln405Ter)
c.1210C>T (p.Gln404Ter)
c.1192C>T (p.Gln398Ter)
c.1156C>T (p.Gln386Ter)
c.1135C>T (p.Gln379Ter)
c.421+30684G>A (n.421+30684G>A)
n.440+30684G>A
n.242+38079G>A
c.898C>T (p.Gln300Ter)
c.1312C>T (p.Gln438Ter)
6g.32293493G>CCA363561758TSBP1,TSBP1-AS1c.1174C>G (p.Gln392Glu)
c.1177C>G (p.Gln393Glu)
c.1153C>G (p.Gln385Glu)
c.1180C>G (p.Gln394Glu)
c.1132C>G (p.Gln378Glu)
c.1165C>G (p.Gln389Glu)
c.1234C>G (p.Gln412Glu)
c.1213C>G (p.Gln405Glu)
c.1210C>G (p.Gln404Glu)
c.1192C>G (p.Gln398Glu)
c.1156C>G (p.Gln386Glu)
c.1135C>G (p.Gln379Glu)
c.421+30684G>C (n.421+30684G>C)
n.440+30684G>C
n.242+38079G>C
c.898C>G (p.Gln300Glu)
c.1312C>G (p.Gln438Glu)
6g.32293493G>TCA363561756TSBP1,TSBP1-AS1c.1174C>A (p.Gln392Lys)
c.1177C>A (p.Gln393Lys)
c.1153C>A (p.Gln385Lys)
c.1180C>A (p.Gln394Lys)
c.1132C>A (p.Gln378Lys)
c.1165C>A (p.Gln389Lys)
c.1234C>A (p.Gln412Lys)
c.1213C>A (p.Gln405Lys)
c.1210C>A (p.Gln404Lys)
c.1192C>A (p.Gln398Lys)
c.1156C>A (p.Gln386Lys)
c.1135C>A (p.Gln379Lys)
c.421+30684G>T (n.421+30684G>T)
n.440+30684G>T
n.242+38079G>T
c.898C>A (p.Gln300Lys)
c.1312C>A (p.Gln438Lys)
6g.32293494T>ACA449829799TSBP1,TSBP1-AS1c.1173A>T (p.Gly391=)
c.1176A>T (p.Gly392=)
c.1152A>T (p.Gly384=)
c.1179A>T (p.Gly393=)
c.1131A>T (p.Gly377=)
c.1164A>T (p.Gly388=)
c.1233A>T (p.Gly411=)
c.1212A>T (p.Gly404=)
c.1209A>T (p.Gly403=)
c.1191A>T (p.Gly397=)
c.1155A>T (p.Gly385=)
c.1134A>T (p.Gly378=)
c.421+30685T>A (n.421+30685T>A)
n.440+30685T>A
n.242+38080T>A
c.897A>T (p.Gly299=)
c.1311A>T (p.Gly437=)
6g.32293494T>CCA449829801TSBP1,TSBP1-AS1c.1173A>G (p.Gly391=)
c.1176A>G (p.Gly392=)
c.1152A>G (p.Gly384=)
c.1179A>G (p.Gly393=)
c.1131A>G (p.Gly377=)
c.1164A>G (p.Gly388=)
c.1233A>G (p.Gly411=)
c.1212A>G (p.Gly404=)
c.1209A>G (p.Gly403=)
c.1191A>G (p.Gly397=)
c.1155A>G (p.Gly385=)
c.1134A>G (p.Gly378=)
c.421+30685T>C (n.421+30685T>C)
n.440+30685T>C
n.242+38080T>C
c.897A>G (p.Gly299=)
c.1311A>G (p.Gly437=)
6g.32293494T>GCA449829802TSBP1,TSBP1-AS1c.1173A>C (p.Gly391=)
c.1176A>C (p.Gly392=)
c.1152A>C (p.Gly384=)
c.1179A>C (p.Gly393=)
c.1131A>C (p.Gly377=)
c.1164A>C (p.Gly388=)
c.1233A>C (p.Gly411=)
c.1212A>C (p.Gly404=)
c.1209A>C (p.Gly403=)
c.1191A>C (p.Gly397=)
c.1155A>C (p.Gly385=)
c.1134A>C (p.Gly378=)
c.421+30685T>G (n.421+30685T>G)
n.440+30685T>G
n.242+38080T>G
c.897A>C (p.Gly299=)
c.1311A>C (p.Gly437=)
6g.32293495C>ACA363561759TSBP1,TSBP1-AS1c.1172G>T (p.Gly391Val)
c.1175G>T (p.Gly392Val)
c.1151G>T (p.Gly384Val)
c.1178G>T (p.Gly393Val)
c.1130G>T (p.Gly377Val)
c.1163G>T (p.Gly388Val)
c.1232G>T (p.Gly411Val)
c.1211G>T (p.Gly404Val)
c.1208G>T (p.Gly403Val)
c.1190G>T (p.Gly397Val)
c.1154G>T (p.Gly385Val)
c.1133G>T (p.Gly378Val)
c.421+30686C>A (n.421+30686C>A)
n.440+30686C>A
n.242+38081C>A
c.896G>T (p.Gly299Val)
c.1310G>T (p.Gly437Val)
6g.32293495C=CA1619500850TSBP1,TSBP1-AS1c.1172G= (p.Gly391=)
c.1175G= (p.Gly392=)
c.1151G= (p.Gly384=)
c.1178G= (p.Gly393=)
c.1130G= (p.Gly377=)
c.1163G= (p.Gly388=)
c.1232G= (p.Gly411=)
c.1211G= (p.Gly404=)
c.1208G= (p.Gly403=)
c.1190G= (p.Gly397=)
c.1154G= (p.Gly385=)
c.1133G= (p.Gly378=)
c.421+30686C= (n.421+30686C=)
n.440+30686C=
n.242+38081C=
c.896G= (p.Gly299=)
c.1310G= (p.Gly437=)
6g.32293495C>GCA136929629TSBP1,TSBP1-AS1c.1172G>C (p.Gly391Ala)
c.1175G>C (p.Gly392Ala)
c.1151G>C (p.Gly384Ala)
c.1178G>C (p.Gly393Ala)
c.1130G>C (p.Gly377Ala)
c.1163G>C (p.Gly388Ala)
c.1232G>C (p.Gly411Ala)
c.1211G>C (p.Gly404Ala)
c.1208G>C (p.Gly403Ala)
c.1190G>C (p.Gly397Ala)
c.1154G>C (p.Gly385Ala)
c.1133G>C (p.Gly378Ala)
c.421+30686C>G (n.421+30686C>G)
n.440+30686C>G
n.242+38081C>G
c.896G>C (p.Gly299Ala)
c.1310G>C (p.Gly437Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.32293495C>TCA3740515TSBP1,TSBP1-AS1c.1172G>A (p.Gly391Glu)
c.1175G>A (p.Gly392Glu)
c.1151G>A (p.Gly384Glu)
c.1178G>A (p.Gly393Glu)
c.1130G>A (p.Gly377Glu)
c.1163G>A (p.Gly388Glu)
c.1232G>A (p.Gly411Glu)
c.1211G>A (p.Gly404Glu)
c.1208G>A (p.Gly403Glu)
c.1190G>A (p.Gly397Glu)
c.1154G>A (p.Gly385Glu)
c.1133G>A (p.Gly378Glu)
c.421+30686C>T (n.421+30686C>T)
n.440+30686C>T
n.242+38081C>T
c.896G>A (p.Gly299Glu)
c.1310G>A (p.Gly437Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293496C>ACA363561760TSBP1,TSBP1-AS1c.1171G>T (p.Gly391Ter)
c.1174G>T (p.Gly392Ter)
c.1150G>T (p.Gly384Ter)
c.1177G>T (p.Gly393Ter)
c.1129G>T (p.Gly377Ter)
c.1162G>T (p.Gly388Ter)
c.1231G>T (p.Gly411Ter)
c.1210G>T (p.Gly404Ter)
c.1207G>T (p.Gly403Ter)
c.1189G>T (p.Gly397Ter)
c.1153G>T (p.Gly385Ter)
c.1132G>T (p.Gly378Ter)
c.421+30687C>A (n.421+30687C>A)
n.440+30687C>A
n.242+38082C>A
c.895G>T (p.Gly299Ter)
c.1309G>T (p.Gly437Ter)
6g.32293496C>GCA363561761TSBP1,TSBP1-AS1c.1171G>C (p.Gly391Arg)
c.1174G>C (p.Gly392Arg)
c.1150G>C (p.Gly384Arg)
c.1177G>C (p.Gly393Arg)
c.1129G>C (p.Gly377Arg)
c.1162G>C (p.Gly388Arg)
c.1231G>C (p.Gly411Arg)
c.1210G>C (p.Gly404Arg)
c.1207G>C (p.Gly403Arg)
c.1189G>C (p.Gly397Arg)
c.1153G>C (p.Gly385Arg)
c.1132G>C (p.Gly378Arg)
c.421+30687C>G (n.421+30687C>G)
n.440+30687C>G
n.242+38082C>G
c.895G>C (p.Gly299Arg)
c.1309G>C (p.Gly437Arg)
 gnomAD v4
6g.32293496C>TCA363561762TSBP1,TSBP1-AS1c.1171G>A (p.Gly391Arg)
c.1174G>A (p.Gly392Arg)
c.1150G>A (p.Gly384Arg)
c.1177G>A (p.Gly393Arg)
c.1129G>A (p.Gly377Arg)
c.1162G>A (p.Gly388Arg)
c.1231G>A (p.Gly411Arg)
c.1210G>A (p.Gly404Arg)
c.1207G>A (p.Gly403Arg)
c.1189G>A (p.Gly397Arg)
c.1153G>A (p.Gly385Arg)
c.1132G>A (p.Gly378Arg)
c.421+30687C>T (n.421+30687C>T)
n.440+30687C>T
n.242+38082C>T
c.895G>A (p.Gly299Arg)
c.1309G>A (p.Gly437Arg)
 COSMIC
6g.32293497C>ACA363561764TSBP1,TSBP1-AS1c.1170G>T (p.Lys390Asn)
c.1173G>T (p.Lys391Asn)
c.1149G>T (p.Lys383Asn)
c.1176G>T (p.Lys392Asn)
c.1128G>T (p.Lys376Asn)
c.1161G>T (p.Lys387Asn)
c.1230G>T (p.Lys410Asn)
c.1209G>T (p.Lys403Asn)
c.1206G>T (p.Lys402Asn)
c.1188G>T (p.Lys396Asn)
c.1152G>T (p.Lys384Asn)
c.1131G>T (p.Lys377Asn)
c.421+30688C>A (n.421+30688C>A)
n.440+30688C>A
n.242+38083C>A
c.894G>T (p.Lys298Asn)
c.1308G>T (p.Lys436Asn)
6g.32293497C=CA1619500851TSBP1,TSBP1-AS1c.1170G= (p.Lys390=)
c.1173G= (p.Lys391=)
c.1149G= (p.Lys383=)
c.1176G= (p.Lys392=)
c.1128G= (p.Lys376=)
c.1161G= (p.Lys387=)
c.1230G= (p.Lys410=)
c.1209G= (p.Lys403=)
c.1206G= (p.Lys402=)
c.1188G= (p.Lys396=)
c.1152G= (p.Lys384=)
c.1131G= (p.Lys377=)
c.421+30688C= (n.421+30688C=)
n.440+30688C=
n.242+38083C=
c.894G= (p.Lys298=)
c.1308G= (p.Lys436=)
6g.32293497C>GCA363561763TSBP1,TSBP1-AS1c.1170G>C (p.Lys390Asn)
c.1173G>C (p.Lys391Asn)
c.1149G>C (p.Lys383Asn)
c.1176G>C (p.Lys392Asn)
c.1128G>C (p.Lys376Asn)
c.1161G>C (p.Lys387Asn)
c.1230G>C (p.Lys410Asn)
c.1209G>C (p.Lys403Asn)
c.1206G>C (p.Lys402Asn)
c.1188G>C (p.Lys396Asn)
c.1152G>C (p.Lys384Asn)
c.1131G>C (p.Lys377Asn)
c.421+30688C>G (n.421+30688C>G)
n.440+30688C>G
n.242+38083C>G
c.894G>C (p.Lys298Asn)
c.1308G>C (p.Lys436Asn)
6g.32293497C>TCA449829807TSBP1,TSBP1-AS1c.1170G>A (p.Lys390=)
c.1173G>A (p.Lys391=)
c.1149G>A (p.Lys383=)
c.1176G>A (p.Lys392=)
c.1128G>A (p.Lys376=)
c.1161G>A (p.Lys387=)
c.1230G>A (p.Lys410=)
c.1209G>A (p.Lys403=)
c.1206G>A (p.Lys402=)
c.1188G>A (p.Lys396=)
c.1152G>A (p.Lys384=)
c.1131G>A (p.Lys377=)
c.421+30688C>T (n.421+30688C>T)
n.440+30688C>T
n.242+38083C>T
c.894G>A (p.Lys298=)
c.1308G>A (p.Lys436=)
 dbSNP gnomAD v4
6g.32293498T>ACA363561765TSBP1,TSBP1-AS1c.1169A>T (p.Lys390Met)
c.1172A>T (p.Lys391Met)
c.1148A>T (p.Lys383Met)
c.1175A>T (p.Lys392Met)
c.1127A>T (p.Lys376Met)
c.1160A>T (p.Lys387Met)
c.1229A>T (p.Lys410Met)
c.1208A>T (p.Lys403Met)
c.1205A>T (p.Lys402Met)
c.1187A>T (p.Lys396Met)
c.1151A>T (p.Lys384Met)
c.1130A>T (p.Lys377Met)
c.421+30689T>A (n.421+30689T>A)
n.440+30689T>A
n.242+38084T>A
c.893A>T (p.Lys298Met)
c.1307A>T (p.Lys436Met)
6g.32293498T>CCA363561766TSBP1,TSBP1-AS1c.1169A>G (p.Lys390Arg)
c.1172A>G (p.Lys391Arg)
c.1148A>G (p.Lys383Arg)
c.1175A>G (p.Lys392Arg)
c.1127A>G (p.Lys376Arg)
c.1160A>G (p.Lys387Arg)
c.1229A>G (p.Lys410Arg)
c.1208A>G (p.Lys403Arg)
c.1205A>G (p.Lys402Arg)
c.1187A>G (p.Lys396Arg)
c.1151A>G (p.Lys384Arg)
c.1130A>G (p.Lys377Arg)
c.421+30689T>C (n.421+30689T>C)
n.440+30689T>C
n.242+38084T>C
c.893A>G (p.Lys298Arg)
c.1307A>G (p.Lys436Arg)
6g.32293498T>GCA363561767TSBP1,TSBP1-AS1c.1169A>C (p.Lys390Thr)
c.1172A>C (p.Lys391Thr)
c.1148A>C (p.Lys383Thr)
c.1175A>C (p.Lys392Thr)
c.1127A>C (p.Lys376Thr)
c.1160A>C (p.Lys387Thr)
c.1229A>C (p.Lys410Thr)
c.1208A>C (p.Lys403Thr)
c.1205A>C (p.Lys402Thr)
c.1187A>C (p.Lys396Thr)
c.1151A>C (p.Lys384Thr)
c.1130A>C (p.Lys377Thr)
c.421+30689T>G (n.421+30689T>G)
n.440+30689T>G
n.242+38084T>G
c.893A>C (p.Lys298Thr)
c.1307A>C (p.Lys436Thr)
6g.32293500delCA2695206201TSBP1,TSBP1-AS1c.1169del (p.Lys390ArgfsTer7)
c.1172del (p.Lys391ArgfsTer7)
c.1148del (p.Lys383ArgfsTer7)
c.1175del (p.Lys392ArgfsTer7)
c.1127del (p.Lys376ArgfsTer7)
c.1160del (p.Lys387ArgfsTer7)
c.1229del (p.Lys410ArgfsTer7)
c.1208del (p.Lys403ArgfsTer7)
c.1205del (p.Lys402ArgfsTer7)
c.1187del (p.Lys396ArgfsTer7)
c.1151del (p.Lys384ArgfsTer7)
c.1130del (p.Lys377ArgfsTer7)
c.421+30691del (n.421+30691del)
n.440+30691del
n.242+38086del
c.893del (p.Lys298ArgfsTer7)
c.1307del (p.Lys436ArgfsTer7)
6g.32293499T>ACA363561768TSBP1,TSBP1-AS1c.1168A>T (p.Lys390Ter)
c.1171A>T (p.Lys391Ter)
c.1147A>T (p.Lys383Ter)
c.1174A>T (p.Lys392Ter)
c.1126A>T (p.Lys376Ter)
c.1159A>T (p.Lys387Ter)
c.1228A>T (p.Lys410Ter)
c.1207A>T (p.Lys403Ter)
c.1204A>T (p.Lys402Ter)
c.1186A>T (p.Lys396Ter)
c.1150A>T (p.Lys384Ter)
c.1129A>T (p.Lys377Ter)
c.421+30690T>A (n.421+30690T>A)
n.440+30690T>A
n.242+38085T>A
c.892A>T (p.Lys298Ter)
c.1306A>T (p.Lys436Ter)
6g.32293499T>CCA363561769TSBP1,TSBP1-AS1c.1168A>G (p.Lys390Glu)
c.1171A>G (p.Lys391Glu)
c.1147A>G (p.Lys383Glu)
c.1174A>G (p.Lys392Glu)
c.1126A>G (p.Lys376Glu)
c.1159A>G (p.Lys387Glu)
c.1228A>G (p.Lys410Glu)
c.1207A>G (p.Lys403Glu)
c.1204A>G (p.Lys402Glu)
c.1186A>G (p.Lys396Glu)
c.1150A>G (p.Lys384Glu)
c.1129A>G (p.Lys377Glu)
c.421+30690T>C (n.421+30690T>C)
n.440+30690T>C
n.242+38085T>C
c.892A>G (p.Lys298Glu)
c.1306A>G (p.Lys436Glu)
6g.32293499T>GCA363561770TSBP1,TSBP1-AS1c.1168A>C (p.Lys390Gln)
c.1171A>C (p.Lys391Gln)
c.1147A>C (p.Lys383Gln)
c.1174A>C (p.Lys392Gln)
c.1126A>C (p.Lys376Gln)
c.1159A>C (p.Lys387Gln)
c.1228A>C (p.Lys410Gln)
c.1207A>C (p.Lys403Gln)
c.1204A>C (p.Lys402Gln)
c.1186A>C (p.Lys396Gln)
c.1150A>C (p.Lys384Gln)
c.1129A>C (p.Lys377Gln)
c.421+30690T>G (n.421+30690T>G)
n.440+30690T>G
n.242+38085T>G
c.892A>C (p.Lys298Gln)
c.1306A>C (p.Lys436Gln)
6g.32293500T>ACA449829810TSBP1,TSBP1-AS1c.1167A>T (p.Ser389=)
c.1170A>T (p.Ser390=)
c.1146A>T (p.Ser382=)
c.1173A>T (p.Ser391=)
c.1125A>T (p.Ser375=)
c.1158A>T (p.Ser386=)
c.1227A>T (p.Ser409=)
c.1206A>T (p.Ser402=)
c.1203A>T (p.Ser401=)
c.1185A>T (p.Ser395=)
c.1149A>T (p.Ser383=)
c.1128A>T (p.Ser376=)
c.421+30691T>A (n.421+30691T>A)
n.440+30691T>A
n.242+38086T>A
c.891A>T (p.Ser297=)
c.1305A>T (p.Ser435=)
6g.32293500T>CCA449829813TSBP1,TSBP1-AS1c.1167A>G (p.Ser389=)
c.1170A>G (p.Ser390=)
c.1146A>G (p.Ser382=)
c.1173A>G (p.Ser391=)
c.1125A>G (p.Ser375=)
c.1158A>G (p.Ser386=)
c.1227A>G (p.Ser409=)
c.1206A>G (p.Ser402=)
c.1203A>G (p.Ser401=)
c.1185A>G (p.Ser395=)
c.1149A>G (p.Ser383=)
c.1128A>G (p.Ser376=)
c.421+30691T>C (n.421+30691T>C)
n.440+30691T>C
n.242+38086T>C
c.891A>G (p.Ser297=)
c.1305A>G (p.Ser435=)
6g.32293500T>GCA449829815TSBP1,TSBP1-AS1c.1167A>C (p.Ser389=)
c.1170A>C (p.Ser390=)
c.1146A>C (p.Ser382=)
c.1173A>C (p.Ser391=)
c.1125A>C (p.Ser375=)
c.1158A>C (p.Ser386=)
c.1227A>C (p.Ser409=)
c.1206A>C (p.Ser402=)
c.1203A>C (p.Ser401=)
c.1185A>C (p.Ser395=)
c.1149A>C (p.Ser383=)
c.1128A>C (p.Ser376=)
c.421+30691T>G (n.421+30691T>G)
n.440+30691T>G
n.242+38086T>G
c.891A>C (p.Ser297=)
c.1305A>C (p.Ser435=)
 gnomAD v4
6g.32293501G>ACA363561771TSBP1,TSBP1-AS1c.1166C>T (p.Ser389Leu)
c.1169C>T (p.Ser390Leu)
c.1145C>T (p.Ser382Leu)
c.1172C>T (p.Ser391Leu)
c.1124C>T (p.Ser375Leu)
c.1157C>T (p.Ser386Leu)
c.1226C>T (p.Ser409Leu)
c.1205C>T (p.Ser402Leu)
c.1202C>T (p.Ser401Leu)
c.1184C>T (p.Ser395Leu)
c.1148C>T (p.Ser383Leu)
c.1127C>T (p.Ser376Leu)
c.421+30692G>A (n.421+30692G>A)
n.440+30692G>A
n.242+38087G>A
c.890C>T (p.Ser297Leu)
c.1304C>T (p.Ser435Leu)
6g.32293501G>CCA363561773TSBP1,TSBP1-AS1c.1166C>G (p.Ser389Ter)
c.1169C>G (p.Ser390Ter)
c.1145C>G (p.Ser382Ter)
c.1172C>G (p.Ser391Ter)
c.1124C>G (p.Ser375Ter)
c.1157C>G (p.Ser386Ter)
c.1226C>G (p.Ser409Ter)
c.1205C>G (p.Ser402Ter)
c.1202C>G (p.Ser401Ter)
c.1184C>G (p.Ser395Ter)
c.1148C>G (p.Ser383Ter)
c.1127C>G (p.Ser376Ter)
c.421+30692G>C (n.421+30692G>C)
n.440+30692G>C
n.242+38087G>C
c.890C>G (p.Ser297Ter)
c.1304C>G (p.Ser435Ter)
6g.32293501G>TCA363561772TSBP1,TSBP1-AS1c.1166C>A (p.Ser389Ter)
c.1169C>A (p.Ser390Ter)
c.1145C>A (p.Ser382Ter)
c.1172C>A (p.Ser391Ter)
c.1124C>A (p.Ser375Ter)
c.1157C>A (p.Ser386Ter)
c.1226C>A (p.Ser409Ter)
c.1205C>A (p.Ser402Ter)
c.1202C>A (p.Ser401Ter)
c.1184C>A (p.Ser395Ter)
c.1148C>A (p.Ser383Ter)
c.1127C>A (p.Ser376Ter)
c.421+30692G>T (n.421+30692G>T)
n.440+30692G>T
n.242+38087G>T
c.890C>A (p.Ser297Ter)
c.1304C>A (p.Ser435Ter)
6g.32293502A=CA1619500852TSBP1,TSBP1-AS1c.1165T= (p.Ser389=)
c.1168T= (p.Ser390=)
c.1144T= (p.Ser382=)
c.1171T= (p.Ser391=)
c.1123T= (p.Ser375=)
c.1156T= (p.Ser386=)
c.1225T= (p.Ser409=)
c.1204T= (p.Ser402=)
c.1201T= (p.Ser401=)
c.1183T= (p.Ser395=)
c.1147T= (p.Ser383=)
c.1126T= (p.Ser376=)
c.421+30693A= (n.421+30693A=)
n.440+30693A=
n.242+38088A=
c.889T= (p.Ser297=)
c.1303T= (p.Ser435=)
6g.32293502A>CCA363561774TSBP1,TSBP1-AS1c.1165T>G (p.Ser389Ala)
c.1168T>G (p.Ser390Ala)
c.1144T>G (p.Ser382Ala)
c.1171T>G (p.Ser391Ala)
c.1123T>G (p.Ser375Ala)
c.1156T>G (p.Ser386Ala)
c.1225T>G (p.Ser409Ala)
c.1204T>G (p.Ser402Ala)
c.1201T>G (p.Ser401Ala)
c.1183T>G (p.Ser395Ala)
c.1147T>G (p.Ser383Ala)
c.1126T>G (p.Ser376Ala)
c.421+30693A>C (n.421+30693A>C)
n.440+30693A>C
n.242+38088A>C
c.889T>G (p.Ser297Ala)
c.1303T>G (p.Ser435Ala)
6g.32293502A>GCA136929637TSBP1,TSBP1-AS1c.1165T>C (p.Ser389Pro)
c.1168T>C (p.Ser390Pro)
c.1144T>C (p.Ser382Pro)
c.1171T>C (p.Ser391Pro)
c.1123T>C (p.Ser375Pro)
c.1156T>C (p.Ser386Pro)
c.1225T>C (p.Ser409Pro)
c.1204T>C (p.Ser402Pro)
c.1201T>C (p.Ser401Pro)
c.1183T>C (p.Ser395Pro)
c.1147T>C (p.Ser383Pro)
c.1126T>C (p.Ser376Pro)
c.421+30693A>G (n.421+30693A>G)
n.440+30693A>G
n.242+38088A>G
c.889T>C (p.Ser297Pro)
c.1303T>C (p.Ser435Pro)
 dbSNP
6g.32293502A>TCA363561775TSBP1,TSBP1-AS1c.1165T>A (p.Ser389Thr)
c.1168T>A (p.Ser390Thr)
c.1144T>A (p.Ser382Thr)
c.1171T>A (p.Ser391Thr)
c.1123T>A (p.Ser375Thr)
c.1156T>A (p.Ser386Thr)
c.1225T>A (p.Ser409Thr)
c.1204T>A (p.Ser402Thr)
c.1201T>A (p.Ser401Thr)
c.1183T>A (p.Ser395Thr)
c.1147T>A (p.Ser383Thr)
c.1126T>A (p.Ser376Thr)
c.421+30693A>T (n.421+30693A>T)
n.440+30693A>T
n.242+38088A>T
c.889T>A (p.Ser297Thr)
c.1303T>A (p.Ser435Thr)
6g.32293502_32293513delinsAGACACCAGACTCA1619500853TSBP1,TSBP1-AS1c.1154_1165delinsAGTCTGGTGTCT (p.Gln385=)
c.1157_1168delinsAGTCTGGTGTCT (p.Gln386=)
c.1133_1144delinsAGTCTGGTGTCT (p.Gln378=)
c.1160_1171delinsAGTCTGGTGTCT (p.Gln387=)
c.1112_1123delinsAGTCTGGTGTCT (p.Gln371=)
c.1145_1156delinsAGTCTGGTGTCT (p.Gln382=)
c.1214_1225delinsAGTCTGGTGTCT (p.Gln405=)
c.1193_1204delinsAGTCTGGTGTCT (p.Gln398=)
c.1190_1201delinsAGTCTGGTGTCT (p.Gln397=)
c.1172_1183delinsAGTCTGGTGTCT (p.Gln391=)
c.1136_1147delinsAGTCTGGTGTCT (p.Gln379=)
c.1115_1126delinsAGTCTGGTGTCT (p.Gln372=)
c.421+30693_421+30704delinsAGACACCAGACT (n.421+30693_421+30704delinsAGACACCAGACT)
n.440+30693_440+30704delinsAGACACCAGACT
n.242+38088_242+38099delinsAGACACCAGACT
c.878_889delinsAGTCTGGTGTCT (p.Gln293=)
c.1292_1303delinsAGTCTGGTGTCT (p.Gln431=)
6g.32293503G>ACA449829819TSBP1,TSBP1-AS1c.1164C>T (p.Val388=)
c.1167C>T (p.Val389=)
c.1143C>T (p.Val381=)
c.1170C>T (p.Val390=)
c.1122C>T (p.Val374=)
c.1155C>T (p.Val385=)
c.1224C>T (p.Val408=)
c.1203C>T (p.Val401=)
c.1200C>T (p.Val400=)
c.1182C>T (p.Val394=)
c.1146C>T (p.Val382=)
c.1125C>T (p.Val375=)
c.421+30694G>A (n.421+30694G>A)
n.440+30694G>A
n.242+38089G>A
c.888C>T (p.Val296=)
c.1302C>T (p.Val434=)
 gnomAD v4
6g.32293503G>CCA449829821TSBP1,TSBP1-AS1c.1164C>G (p.Val388=)
c.1167C>G (p.Val389=)
c.1143C>G (p.Val381=)
c.1170C>G (p.Val390=)
c.1122C>G (p.Val374=)
c.1155C>G (p.Val385=)
c.1224C>G (p.Val408=)
c.1203C>G (p.Val401=)
c.1200C>G (p.Val400=)
c.1182C>G (p.Val394=)
c.1146C>G (p.Val382=)
c.1125C>G (p.Val375=)
c.421+30694G>C (n.421+30694G>C)
n.440+30694G>C
n.242+38089G>C
c.888C>G (p.Val296=)
c.1302C>G (p.Val434=)
6g.32293503G>TCA449829823TSBP1,TSBP1-AS1c.1164C>A (p.Val388=)
c.1167C>A (p.Val389=)
c.1143C>A (p.Val381=)
c.1170C>A (p.Val390=)
c.1122C>A (p.Val374=)
c.1155C>A (p.Val385=)
c.1224C>A (p.Val408=)
c.1203C>A (p.Val401=)
c.1200C>A (p.Val400=)
c.1182C>A (p.Val394=)
c.1146C>A (p.Val382=)
c.1125C>A (p.Val375=)
c.421+30694G>T (n.421+30694G>T)
n.440+30694G>T
n.242+38089G>T
c.888C>A (p.Val296=)
c.1302C>A (p.Val434=)
6g.32293506_32293516delCA1619500854TSBP1,TSBP1-AS1c.1154_1164del (p.Gln385LeufsTer27)
c.1157_1167del (p.Gln386LeufsTer27)
c.1133_1143del (p.Gln378LeufsTer27)
c.1160_1170del (p.Gln387LeufsTer27)
c.1112_1122del (p.Gln371LeufsTer27)
c.1145_1155del (p.Gln382LeufsTer27)
c.1214_1224del (p.Gln405LeufsTer27)
c.1193_1203del (p.Gln398LeufsTer27)
c.1190_1200del (p.Gln397LeufsTer27)
c.1172_1182del (p.Gln391LeufsTer27)
c.1136_1146del (p.Gln379LeufsTer27)
c.1115_1125del (p.Gln372LeufsTer27)
c.421+30697_421+30707del (n.421+30697_421+30707del)
n.440+30697_440+30707del
n.242+38092_242+38102del
c.878_888del (p.Gln293LeufsTer27)
c.1292_1302del (p.Gln431LeufsTer27)
 dbSNP gnomAD v4
6g.32293504A=CA1619500855TSBP1,TSBP1-AS1c.1163T= (p.Val388=)
c.1166T= (p.Val389=)
c.1142T= (p.Val381=)
c.1169T= (p.Val390=)
c.1121T= (p.Val374=)
c.1154T= (p.Val385=)
c.1223T= (p.Val408=)
c.1202T= (p.Val401=)
c.1199T= (p.Val400=)
c.1181T= (p.Val394=)
c.1145T= (p.Val382=)
c.1124T= (p.Val375=)
c.421+30695A= (n.421+30695A=)
n.440+30695A=
n.242+38090A=
c.887T= (p.Val296=)
c.1301T= (p.Val434=)
6g.32293504A>CCA363561776TSBP1,TSBP1-AS1c.1163T>G (p.Val388Gly)
c.1166T>G (p.Val389Gly)
c.1142T>G (p.Val381Gly)
c.1169T>G (p.Val390Gly)
c.1121T>G (p.Val374Gly)
c.1154T>G (p.Val385Gly)
c.1223T>G (p.Val408Gly)
c.1202T>G (p.Val401Gly)
c.1199T>G (p.Val400Gly)
c.1181T>G (p.Val394Gly)
c.1145T>G (p.Val382Gly)
c.1124T>G (p.Val375Gly)
c.421+30695A>C (n.421+30695A>C)
n.440+30695A>C
n.242+38090A>C
c.887T>G (p.Val296Gly)
c.1301T>G (p.Val434Gly)
6g.32293504A>GCA363561777TSBP1,TSBP1-AS1c.1163T>C (p.Val388Ala)
c.1166T>C (p.Val389Ala)
c.1142T>C (p.Val381Ala)
c.1169T>C (p.Val390Ala)
c.1121T>C (p.Val374Ala)
c.1154T>C (p.Val385Ala)
c.1223T>C (p.Val408Ala)
c.1202T>C (p.Val401Ala)
c.1199T>C (p.Val400Ala)
c.1181T>C (p.Val394Ala)
c.1145T>C (p.Val382Ala)
c.1124T>C (p.Val375Ala)
c.421+30695A>G (n.421+30695A>G)
n.440+30695A>G
n.242+38090A>G
c.887T>C (p.Val296Ala)
c.1301T>C (p.Val434Ala)
6g.32293504A>TCA3740516TSBP1,TSBP1-AS1c.1163T>A (p.Val388Asp)
c.1166T>A (p.Val389Asp)
c.1142T>A (p.Val381Asp)
c.1169T>A (p.Val390Asp)
c.1121T>A (p.Val374Asp)
c.1154T>A (p.Val385Asp)
c.1223T>A (p.Val408Asp)
c.1202T>A (p.Val401Asp)
c.1199T>A (p.Val400Asp)
c.1181T>A (p.Val394Asp)
c.1145T>A (p.Val382Asp)
c.1124T>A (p.Val375Asp)
c.421+30695A>T (n.421+30695A>T)
n.440+30695A>T
n.242+38090A>T
c.887T>A (p.Val296Asp)
c.1301T>A (p.Val434Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32293505C>ACA363561778TSBP1,TSBP1-AS1c.1162G>T (p.Val388Phe)
c.1165G>T (p.Val389Phe)
c.1141G>T (p.Val381Phe)
c.1168G>T (p.Val390Phe)
c.1120G>T (p.Val374Phe)
c.1153G>T (p.Val385Phe)
c.1222G>T (p.Val408Phe)
c.1201G>T (p.Val401Phe)
c.1198G>T (p.Val400Phe)
c.1180G>T (p.Val394Phe)
c.1144G>T (p.Val382Phe)
c.1123G>T (p.Val375Phe)
c.421+30696C>A (n.421+30696C>A)
n.440+30696C>A
n.242+38091C>A
c.886G>T (p.Val296Phe)
c.1300G>T (p.Val434Phe)
6g.32293505C>GCA363561779TSBP1,TSBP1-AS1c.1162G>C (p.Val388Leu)
c.1165G>C (p.Val389Leu)
c.1141G>C (p.Val381Leu)
c.1168G>C (p.Val390Leu)
c.1120G>C (p.Val374Leu)
c.1153G>C (p.Val385Leu)
c.1222G>C (p.Val408Leu)
c.1201G>C (p.Val401Leu)
c.1198G>C (p.Val400Leu)
c.1180G>C (p.Val394Leu)
c.1144G>C (p.Val382Leu)
c.1123G>C (p.Val375Leu)
c.421+30696C>G (n.421+30696C>G)
n.440+30696C>G
n.242+38091C>G
c.886G>C (p.Val296Leu)
c.1300G>C (p.Val434Leu)
6g.32293505C>TCA363561780TSBP1,TSBP1-AS1c.1162G>A (p.Val388Ile)
c.1165G>A (p.Val389Ile)
c.1141G>A (p.Val381Ile)
c.1168G>A (p.Val390Ile)
c.1120G>A (p.Val374Ile)
c.1153G>A (p.Val385Ile)
c.1222G>A (p.Val408Ile)
c.1201G>A (p.Val401Ile)
c.1198G>A (p.Val400Ile)
c.1180G>A (p.Val394Ile)
c.1144G>A (p.Val382Ile)
c.1123G>A (p.Val375Ile)
c.421+30696C>T (n.421+30696C>T)
n.440+30696C>T
n.242+38091C>T
c.886G>A (p.Val296Ile)
c.1300G>A (p.Val434Ile)
6g.32293506A=CA1619500856TSBP1,TSBP1-AS1c.1161T= (p.Gly387=)
c.1164T= (p.Gly388=)
c.1140T= (p.Gly380=)
c.1167T= (p.Gly389=)
c.1119T= (p.Gly373=)
c.1152T= (p.Gly384=)
c.1221T= (p.Gly407=)
c.1200T= (p.Gly400=)
c.1197T= (p.Gly399=)
c.1179T= (p.Gly393=)
c.1143T= (p.Gly381=)
c.1122T= (p.Gly374=)
c.421+30697A= (n.421+30697A=)
n.440+30697A=
n.242+38092A=
c.885T= (p.Gly295=)
c.1299T= (p.Gly433=)
6g.32293506A>CCA449829829TSBP1,TSBP1-AS1c.1161T>G (p.Gly387=)
c.1164T>G (p.Gly388=)
c.1140T>G (p.Gly380=)
c.1167T>G (p.Gly389=)
c.1119T>G (p.Gly373=)
c.1152T>G (p.Gly384=)
c.1221T>G (p.Gly407=)
c.1200T>G (p.Gly400=)
c.1197T>G (p.Gly399=)
c.1179T>G (p.Gly393=)
c.1143T>G (p.Gly381=)
c.1122T>G (p.Gly374=)
c.421+30697A>C (n.421+30697A>C)
n.440+30697A>C
n.242+38092A>C
c.885T>G (p.Gly295=)
c.1299T>G (p.Gly433=)
6g.32293506A>GCA449829830TSBP1,TSBP1-AS1c.1161T>C (p.Gly387=)
c.1164T>C (p.Gly388=)
c.1140T>C (p.Gly380=)
c.1167T>C (p.Gly389=)
c.1119T>C (p.Gly373=)
c.1152T>C (p.Gly384=)
c.1221T>C (p.Gly407=)
c.1200T>C (p.Gly400=)
c.1197T>C (p.Gly399=)
c.1179T>C (p.Gly393=)
c.1143T>C (p.Gly381=)
c.1122T>C (p.Gly374=)
c.421+30697A>G (n.421+30697A>G)
n.440+30697A>G
n.242+38092A>G
c.885T>C (p.Gly295=)
c.1299T>C (p.Gly433=)
 dbSNP gnomAD v2 gnomAD v4
6g.32293506A>TCA449829832TSBP1,TSBP1-AS1c.1161T>A (p.Gly387=)
c.1164T>A (p.Gly388=)
c.1140T>A (p.Gly380=)
c.1167T>A (p.Gly389=)
c.1119T>A (p.Gly373=)
c.1152T>A (p.Gly384=)
c.1221T>A (p.Gly407=)
c.1200T>A (p.Gly400=)
c.1197T>A (p.Gly399=)
c.1179T>A (p.Gly393=)
c.1143T>A (p.Gly381=)
c.1122T>A (p.Gly374=)
c.421+30697A>T (n.421+30697A>T)
n.440+30697A>T
n.242+38092A>T
c.885T>A (p.Gly295=)
c.1299T>A (p.Gly433=)
6g.32293507C>ACA363561781TSBP1,TSBP1-AS1c.1160G>T (p.Gly387Val)
c.1163G>T (p.Gly388Val)
c.1139G>T (p.Gly380Val)
c.1166G>T (p.Gly389Val)
c.1118G>T (p.Gly373Val)
c.1151G>T (p.Gly384Val)
c.1220G>T (p.Gly407Val)
c.1199G>T (p.Gly400Val)
c.1196G>T (p.Gly399Val)
c.1178G>T (p.Gly393Val)
c.1142G>T (p.Gly381Val)
c.1121G>T (p.Gly374Val)
c.421+30698C>A (n.421+30698C>A)
n.440+30698C>A
n.242+38093C>A
c.884G>T (p.Gly295Val)
c.1298G>T (p.Gly433Val)
6g.32293507C>GCA363561782TSBP1,TSBP1-AS1c.1160G>C (p.Gly387Ala)
c.1163G>C (p.Gly388Ala)
c.1139G>C (p.Gly380Ala)
c.1166G>C (p.Gly389Ala)
c.1118G>C (p.Gly373Ala)
c.1151G>C (p.Gly384Ala)
c.1220G>C (p.Gly407Ala)
c.1199G>C (p.Gly400Ala)
c.1196G>C (p.Gly399Ala)
c.1178G>C (p.Gly393Ala)
c.1142G>C (p.Gly381Ala)
c.1121G>C (p.Gly374Ala)
c.421+30698C>G (n.421+30698C>G)
n.440+30698C>G
n.242+38093C>G
c.884G>C (p.Gly295Ala)
c.1298G>C (p.Gly433Ala)
 gnomAD v4
6g.32293507C>TCA363561783TSBP1,TSBP1-AS1c.1160G>A (p.Gly387Asp)
c.1163G>A (p.Gly388Asp)
c.1139G>A (p.Gly380Asp)
c.1166G>A (p.Gly389Asp)
c.1118G>A (p.Gly373Asp)
c.1151G>A (p.Gly384Asp)
c.1220G>A (p.Gly407Asp)
c.1199G>A (p.Gly400Asp)
c.1196G>A (p.Gly399Asp)
c.1178G>A (p.Gly393Asp)
c.1142G>A (p.Gly381Asp)
c.1121G>A (p.Gly374Asp)
c.421+30698C>T (n.421+30698C>T)
n.440+30698C>T
n.242+38093C>T
c.884G>A (p.Gly295Asp)
c.1298G>A (p.Gly433Asp)
6g.32293508C>ACA363561785TSBP1,TSBP1-AS1c.1159G>T (p.Gly387Cys)
c.1162G>T (p.Gly388Cys)
c.1138G>T (p.Gly380Cys)
c.1165G>T (p.Gly389Cys)
c.1117G>T (p.Gly373Cys)
c.1150G>T (p.Gly384Cys)
c.1219G>T (p.Gly407Cys)
c.1198G>T (p.Gly400Cys)
c.1195G>T (p.Gly399Cys)
c.1177G>T (p.Gly393Cys)
c.1141G>T (p.Gly381Cys)
c.1120G>T (p.Gly374Cys)
c.421+30699C>A (n.421+30699C>A)
n.440+30699C>A
n.242+38094C>A
c.883G>T (p.Gly295Cys)
c.1297G>T (p.Gly433Cys)
6g.32293508C>GCA363561786TSBP1,TSBP1-AS1c.1159G>C (p.Gly387Arg)
c.1162G>C (p.Gly388Arg)
c.1138G>C (p.Gly380Arg)
c.1165G>C (p.Gly389Arg)
c.1117G>C (p.Gly373Arg)
c.1150G>C (p.Gly384Arg)
c.1219G>C (p.Gly407Arg)
c.1198G>C (p.Gly400Arg)
c.1195G>C (p.Gly399Arg)
c.1177G>C (p.Gly393Arg)
c.1141G>C (p.Gly381Arg)
c.1120G>C (p.Gly374Arg)
c.421+30699C>G (n.421+30699C>G)
n.440+30699C>G
n.242+38094C>G
c.883G>C (p.Gly295Arg)
c.1297G>C (p.Gly433Arg)
6g.32293508C>TCA363561784TSBP1,TSBP1-AS1c.1159G>A (p.Gly387Ser)
c.1162G>A (p.Gly388Ser)
c.1138G>A (p.Gly380Ser)
c.1165G>A (p.Gly389Ser)
c.1117G>A (p.Gly373Ser)
c.1150G>A (p.Gly384Ser)
c.1219G>A (p.Gly407Ser)
c.1198G>A (p.Gly400Ser)
c.1195G>A (p.Gly399Ser)
c.1177G>A (p.Gly393Ser)
c.1141G>A (p.Gly381Ser)
c.1120G>A (p.Gly374Ser)
c.421+30699C>T (n.421+30699C>T)
n.440+30699C>T
n.242+38094C>T
c.883G>A (p.Gly295Ser)
c.1297G>A (p.Gly433Ser)
6g.32293509A>CCA449829839TSBP1,TSBP1-AS1c.1158T>G (p.Ser386=)
c.1161T>G (p.Ser387=)
c.1137T>G (p.Ser379=)
c.1164T>G (p.Ser388=)
c.1116T>G (p.Ser372=)
c.1149T>G (p.Ser383=)
c.1218T>G (p.Ser406=)
c.1197T>G (p.Ser399=)
c.1194T>G (p.Ser398=)
c.1176T>G (p.Ser392=)
c.1140T>G (p.Ser380=)
c.1119T>G (p.Ser373=)
c.421+30700A>C (n.421+30700A>C)
n.440+30700A>C
n.242+38095A>C
c.882T>G (p.Ser294=)
c.1296T>G (p.Ser432=)
6g.32293509A>GCA449829840TSBP1,TSBP1-AS1c.1158T>C (p.Ser386=)
c.1161T>C (p.Ser387=)
c.1137T>C (p.Ser379=)
c.1164T>C (p.Ser388=)
c.1116T>C (p.Ser372=)
c.1149T>C (p.Ser383=)
c.1218T>C (p.Ser406=)
c.1197T>C (p.Ser399=)
c.1194T>C (p.Ser398=)
c.1176T>C (p.Ser392=)
c.1140T>C (p.Ser380=)
c.1119T>C (p.Ser373=)
c.421+30700A>G (n.421+30700A>G)
n.440+30700A>G
n.242+38095A>G
c.882T>C (p.Ser294=)
c.1296T>C (p.Ser432=)
6g.32293509A>TCA449829841TSBP1,TSBP1-AS1c.1158T>A (p.Ser386=)
c.1161T>A (p.Ser387=)
c.1137T>A (p.Ser379=)
c.1164T>A (p.Ser388=)
c.1116T>A (p.Ser372=)
c.1149T>A (p.Ser383=)
c.1218T>A (p.Ser406=)
c.1197T>A (p.Ser399=)
c.1194T>A (p.Ser398=)
c.1176T>A (p.Ser392=)
c.1140T>A (p.Ser380=)
c.1119T>A (p.Ser373=)
c.421+30700A>T (n.421+30700A>T)
n.440+30700A>T
n.242+38095A>T
c.882T>A (p.Ser294=)
c.1296T>A (p.Ser432=)
6g.32293510G>ACA363561787TSBP1,TSBP1-AS1c.1157C>T (p.Ser386Phe)
c.1160C>T (p.Ser387Phe)
c.1136C>T (p.Ser379Phe)
c.1163C>T (p.Ser388Phe)
c.1115C>T (p.Ser372Phe)
c.1148C>T (p.Ser383Phe)
c.1217C>T (p.Ser406Phe)
c.1196C>T (p.Ser399Phe)
c.1193C>T (p.Ser398Phe)
c.1175C>T (p.Ser392Phe)
c.1139C>T (p.Ser380Phe)
c.1118C>T (p.Ser373Phe)
c.421+30701G>A (n.421+30701G>A)
n.440+30701G>A
n.242+38096G>A
c.881C>T (p.Ser294Phe)
c.1295C>T (p.Ser432Phe)
6g.32293510G>CCA363561788TSBP1,TSBP1-AS1c.1157C>G (p.Ser386Cys)
c.1160C>G (p.Ser387Cys)
c.1136C>G (p.Ser379Cys)
c.1163C>G (p.Ser388Cys)
c.1115C>G (p.Ser372Cys)
c.1148C>G (p.Ser383Cys)
c.1217C>G (p.Ser406Cys)
c.1196C>G (p.Ser399Cys)
c.1193C>G (p.Ser398Cys)
c.1175C>G (p.Ser392Cys)
c.1139C>G (p.Ser380Cys)
c.1118C>G (p.Ser373Cys)
c.421+30701G>C (n.421+30701G>C)
n.440+30701G>C
n.242+38096G>C
c.881C>G (p.Ser294Cys)
c.1295C>G (p.Ser432Cys)
6g.32293510G>TCA363561789TSBP1,TSBP1-AS1c.1157C>A (p.Ser386Tyr)
c.1160C>A (p.Ser387Tyr)
c.1136C>A (p.Ser379Tyr)
c.1163C>A (p.Ser388Tyr)
c.1115C>A (p.Ser372Tyr)
c.1148C>A (p.Ser383Tyr)
c.1217C>A (p.Ser406Tyr)
c.1196C>A (p.Ser399Tyr)
c.1193C>A (p.Ser398Tyr)
c.1175C>A (p.Ser392Tyr)
c.1139C>A (p.Ser380Tyr)
c.1118C>A (p.Ser373Tyr)
c.421+30701G>T (n.421+30701G>T)
n.440+30701G>T
n.242+38096G>T
c.881C>A (p.Ser294Tyr)
c.1295C>A (p.Ser432Tyr)
6g.32293511A>CCA363561790TSBP1,TSBP1-AS1c.1156T>G (p.Ser386Ala)
c.1159T>G (p.Ser387Ala)
c.1135T>G (p.Ser379Ala)
c.1162T>G (p.Ser388Ala)
c.1114T>G (p.Ser372Ala)
c.1147T>G (p.Ser383Ala)
c.1216T>G (p.Ser406Ala)
c.1195T>G (p.Ser399Ala)
c.1192T>G (p.Ser398Ala)
c.1174T>G (p.Ser392Ala)
c.1138T>G (p.Ser380Ala)
c.1117T>G (p.Ser373Ala)
c.421+30702A>C (n.421+30702A>C)
n.440+30702A>C
n.242+38097A>C
c.880T>G (p.Ser294Ala)
c.1294T>G (p.Ser432Ala)
6g.32293511A>GCA363561791TSBP1,TSBP1-AS1c.1156T>C (p.Ser386Pro)
c.1159T>C (p.Ser387Pro)
c.1135T>C (p.Ser379Pro)
c.1162T>C (p.Ser388Pro)
c.1114T>C (p.Ser372Pro)
c.1147T>C (p.Ser383Pro)
c.1216T>C (p.Ser406Pro)
c.1195T>C (p.Ser399Pro)
c.1192T>C (p.Ser398Pro)
c.1174T>C (p.Ser392Pro)
c.1138T>C (p.Ser380Pro)
c.1117T>C (p.Ser373Pro)
c.421+30702A>G (n.421+30702A>G)
n.440+30702A>G
n.242+38097A>G
c.880T>C (p.Ser294Pro)
c.1294T>C (p.Ser432Pro)
6g.32293511A>TCA363561792TSBP1,TSBP1-AS1c.1156T>A (p.Ser386Thr)
c.1159T>A (p.Ser387Thr)
c.1135T>A (p.Ser379Thr)
c.1162T>A (p.Ser388Thr)
c.1114T>A (p.Ser372Thr)
c.1147T>A (p.Ser383Thr)
c.1216T>A (p.Ser406Thr)
c.1195T>A (p.Ser399Thr)
c.1192T>A (p.Ser398Thr)
c.1174T>A (p.Ser392Thr)
c.1138T>A (p.Ser380Thr)
c.1117T>A (p.Ser373Thr)
c.421+30702A>T (n.421+30702A>T)
n.440+30702A>T
n.242+38097A>T
c.880T>A (p.Ser294Thr)
c.1294T>A (p.Ser432Thr)
6g.32293512C>ACA363561793TSBP1,TSBP1-AS1c.1155G>T (p.Gln385His)
c.1158G>T (p.Gln386His)
c.1134G>T (p.Gln378His)
c.1161G>T (p.Gln387His)
c.1113G>T (p.Gln371His)
c.1146G>T (p.Gln382His)
c.1215G>T (p.Gln405His)
c.1194G>T (p.Gln398His)
c.1191G>T (p.Gln397His)
c.1173G>T (p.Gln391His)
c.1137G>T (p.Gln379His)
c.1116G>T (p.Gln372His)
c.421+30703C>A (n.421+30703C>A)
n.440+30703C>A
n.242+38098C>A
c.879G>T (p.Gln293His)
c.1293G>T (p.Gln431His)
6g.32293512C>GCA363561794TSBP1,TSBP1-AS1c.1155G>C (p.Gln385His)
c.1158G>C (p.Gln386His)
c.1134G>C (p.Gln378His)
c.1161G>C (p.Gln387His)
c.1113G>C (p.Gln371His)
c.1146G>C (p.Gln382His)
c.1215G>C (p.Gln405His)
c.1194G>C (p.Gln398His)
c.1191G>C (p.Gln397His)
c.1173G>C (p.Gln391His)
c.1137G>C (p.Gln379His)
c.1116G>C (p.Gln372His)
c.421+30703C>G (n.421+30703C>G)
n.440+30703C>G
n.242+38098C>G
c.879G>C (p.Gln293His)
c.1293G>C (p.Gln431His)
6g.32293512C>TCA449829851TSBP1,TSBP1-AS1c.1155G>A (p.Gln385=)
c.1158G>A (p.Gln386=)
c.1134G>A (p.Gln378=)
c.1161G>A (p.Gln387=)
c.1113G>A (p.Gln371=)
c.1146G>A (p.Gln382=)
c.1215G>A (p.Gln405=)
c.1194G>A (p.Gln398=)
c.1191G>A (p.Gln397=)
c.1173G>A (p.Gln391=)
c.1137G>A (p.Gln379=)
c.1116G>A (p.Gln372=)
c.421+30703C>T (n.421+30703C>T)
n.440+30703C>T
n.242+38098C>T
c.879G>A (p.Gln293=)
c.1293G>A (p.Gln431=)
6g.32293513T>ACA363561795TSBP1,TSBP1-AS1c.1154A>T (p.Gln385Leu)
c.1157A>T (p.Gln386Leu)
c.1133A>T (p.Gln378Leu)
c.1160A>T (p.Gln387Leu)
c.1112A>T (p.Gln371Leu)
c.1145A>T (p.Gln382Leu)
c.1214A>T (p.Gln405Leu)
c.1193A>T (p.Gln398Leu)
c.1190A>T (p.Gln397Leu)
c.1172A>T (p.Gln391Leu)
c.1136A>T (p.Gln379Leu)
c.1115A>T (p.Gln372Leu)
c.421+30704T>A (n.421+30704T>A)
n.440+30704T>A
n.242+38099T>A
c.878A>T (p.Gln293Leu)
c.1292A>T (p.Gln431Leu)
 dbSNP gnomAD v4
6g.32293513T>CCA363561796TSBP1,TSBP1-AS1c.1154A>G (p.Gln385Arg)
c.1157A>G (p.Gln386Arg)
c.1133A>G (p.Gln378Arg)
c.1160A>G (p.Gln387Arg)
c.1112A>G (p.Gln371Arg)
c.1145A>G (p.Gln382Arg)
c.1214A>G (p.Gln405Arg)
c.1193A>G (p.Gln398Arg)
c.1190A>G (p.Gln397Arg)
c.1172A>G (p.Gln391Arg)
c.1136A>G (p.Gln379Arg)
c.1115A>G (p.Gln372Arg)
c.421+30704T>C (n.421+30704T>C)
n.440+30704T>C
n.242+38099T>C
c.878A>G (p.Gln293Arg)
c.1292A>G (p.Gln431Arg)
6g.32293513T>GCA363561797TSBP1,TSBP1-AS1c.1154A>C (p.Gln385Pro)
c.1157A>C (p.Gln386Pro)
c.1133A>C (p.Gln378Pro)
c.1160A>C (p.Gln387Pro)
c.1112A>C (p.Gln371Pro)
c.1145A>C (p.Gln382Pro)
c.1214A>C (p.Gln405Pro)
c.1193A>C (p.Gln398Pro)
c.1190A>C (p.Gln397Pro)
c.1172A>C (p.Gln391Pro)
c.1136A>C (p.Gln379Pro)
c.1115A>C (p.Gln372Pro)
c.421+30704T>G (n.421+30704T>G)
n.440+30704T>G
n.242+38099T>G
c.878A>C (p.Gln293Pro)
c.1292A>C (p.Gln431Pro)
6g.32293513T=CA1619500857TSBP1,TSBP1-AS1c.1154A= (p.Gln385=)
c.1157A= (p.Gln386=)
c.1133A= (p.Gln378=)
c.1160A= (p.Gln387=)
c.1112A= (p.Gln371=)
c.1145A= (p.Gln382=)
c.1214A= (p.Gln405=)
c.1193A= (p.Gln398=)
c.1190A= (p.Gln397=)
c.1172A= (p.Gln391=)
c.1136A= (p.Gln379=)
c.1115A= (p.Gln372=)
c.421+30704T= (n.421+30704T=)
n.440+30704T=
n.242+38099T=
c.878A= (p.Gln293=)
c.1292A= (p.Gln431=)
6g.32293514G>ACA363561798TSBP1,TSBP1-AS1c.1153C>T (p.Gln385Ter)
c.1156C>T (p.Gln386Ter)
c.1132C>T (p.Gln378Ter)
c.1159C>T (p.Gln387Ter)
c.1111C>T (p.Gln371Ter)
c.1144C>T (p.Gln382Ter)
c.1213C>T (p.Gln405Ter)
c.1192C>T (p.Gln398Ter)
c.1189C>T (p.Gln397Ter)
c.1171C>T (p.Gln391Ter)
c.1135C>T (p.Gln379Ter)
c.1114C>T (p.Gln372Ter)
c.421+30705G>A (n.421+30705G>A)
n.440+30705G>A
n.242+38100G>A
c.877C>T (p.Gln293Ter)
c.1291C>T (p.Gln431Ter)
6g.32293514G>CCA3740517TSBP1,TSBP1-AS1c.1153C>G (p.Gln385Glu)
c.1156C>G (p.Gln386Glu)
c.1132C>G (p.Gln378Glu)
c.1159C>G (p.Gln387Glu)
c.1111C>G (p.Gln371Glu)
c.1144C>G (p.Gln382Glu)
c.1213C>G (p.Gln405Glu)
c.1192C>G (p.Gln398Glu)
c.1189C>G (p.Gln397Glu)
c.1171C>G (p.Gln391Glu)
c.1135C>G (p.Gln379Glu)
c.1114C>G (p.Gln372Glu)
c.421+30705G>C (n.421+30705G>C)
n.440+30705G>C
n.242+38100G>C
c.877C>G (p.Gln293Glu)
c.1291C>G (p.Gln431Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293514G=CA1619500858TSBP1,TSBP1-AS1c.1153C= (p.Gln385=)
c.1156C= (p.Gln386=)
c.1132C= (p.Gln378=)
c.1159C= (p.Gln387=)
c.1111C= (p.Gln371=)
c.1144C= (p.Gln382=)
c.1213C= (p.Gln405=)
c.1192C= (p.Gln398=)
c.1189C= (p.Gln397=)
c.1171C= (p.Gln391=)
c.1135C= (p.Gln379=)
c.1114C= (p.Gln372=)
c.421+30705G= (n.421+30705G=)
n.440+30705G=
n.242+38100G=
c.877C= (p.Gln293=)
c.1291C= (p.Gln431=)
6g.32293514G>TCA363561799TSBP1,TSBP1-AS1c.1153C>A (p.Gln385Lys)
c.1156C>A (p.Gln386Lys)
c.1132C>A (p.Gln378Lys)
c.1159C>A (p.Gln387Lys)
c.1111C>A (p.Gln371Lys)
c.1144C>A (p.Gln382Lys)
c.1213C>A (p.Gln405Lys)
c.1192C>A (p.Gln398Lys)
c.1189C>A (p.Gln397Lys)
c.1171C>A (p.Gln391Lys)
c.1135C>A (p.Gln379Lys)
c.1114C>A (p.Gln372Lys)
c.421+30705G>T (n.421+30705G>T)
n.440+30705G>T
n.242+38100G>T
c.877C>A (p.Gln293Lys)
c.1291C>A (p.Gln431Lys)
6g.32293515A>CCA363561801TSBP1,TSBP1-AS1c.1152T>G (p.Ser384Arg)
c.1155T>G (p.Ser385Arg)
c.1131T>G (p.Ser377Arg)
c.1158T>G (p.Ser386Arg)
c.1110T>G (p.Ser370Arg)
c.1143T>G (p.Ser381Arg)
c.1212T>G (p.Ser404Arg)
c.1191T>G (p.Ser397Arg)
c.1188T>G (p.Ser396Arg)
c.1170T>G (p.Ser390Arg)
c.1134T>G (p.Ser378Arg)
c.1113T>G (p.Ser371Arg)
c.421+30706A>C (n.421+30706A>C)
n.440+30706A>C
n.242+38101A>C
c.876T>G (p.Ser292Arg)
c.1290T>G (p.Ser430Arg)
6g.32293515A>GCA449829858TSBP1,TSBP1-AS1c.1152T>C (p.Ser384=)
c.1155T>C (p.Ser385=)
c.1131T>C (p.Ser377=)
c.1158T>C (p.Ser386=)
c.1110T>C (p.Ser370=)
c.1143T>C (p.Ser381=)
c.1212T>C (p.Ser404=)
c.1191T>C (p.Ser397=)
c.1188T>C (p.Ser396=)
c.1170T>C (p.Ser390=)
c.1134T>C (p.Ser378=)
c.1113T>C (p.Ser371=)
c.421+30706A>G (n.421+30706A>G)
n.440+30706A>G
n.242+38101A>G
c.876T>C (p.Ser292=)
c.1290T>C (p.Ser430=)
 gnomAD v4
6g.32293515A>TCA363561800TSBP1,TSBP1-AS1c.1152T>A (p.Ser384Arg)
c.1155T>A (p.Ser385Arg)
c.1131T>A (p.Ser377Arg)
c.1158T>A (p.Ser386Arg)
c.1110T>A (p.Ser370Arg)
c.1143T>A (p.Ser381Arg)
c.1212T>A (p.Ser404Arg)
c.1191T>A (p.Ser397Arg)
c.1188T>A (p.Ser396Arg)
c.1170T>A (p.Ser390Arg)
c.1134T>A (p.Ser378Arg)
c.1113T>A (p.Ser371Arg)
c.421+30706A>T (n.421+30706A>T)
n.440+30706A>T
n.242+38101A>T
c.876T>A (p.Ser292Arg)
c.1290T>A (p.Ser430Arg)
 gnomAD v4
6g.32293533_32293667delCA2678139201TSBP1,TSBP1-AS1c.1018_1152del (p.Glu340_Ser384del)
c.1021_1155del (p.Glu341_Ser385del)
c.997_1131del (p.Glu333_Ser377del)
c.1024_1158del (p.Glu342_Ser386del)
c.976_1110del (p.Glu326_Ser370del)
c.1009_1143del
c.1078_1212del (p.Glu360_Ser404del)
c.1057_1191del (p.Glu353_Ser397del)
c.1054_1188del (p.Glu352_Ser396del)
c.1036_1170del (p.Glu346_Ser390del)
c.1000_1134del (p.Glu334_Ser378del)
c.979_1113del (p.Glu327_Ser371del)
c.421+30724_421+30858del (n.421+30724_421+30858del)
n.440+30724_440+30858del
n.242+38119_242+38253del
c.742_876del (p.Glu248_Ser292del)
c.1156_1290del (p.Glu386_Ser430del)
 gnomAD v4
6g.32293516C>ACA363561802TSBP1,TSBP1-AS1c.1151G>T (p.Ser384Ile)
c.1154G>T (p.Ser385Ile)
c.1130G>T (p.Ser377Ile)
c.1157G>T (p.Ser386Ile)
c.1109G>T (p.Ser370Ile)
c.1142G>T (p.Ser381Ile)
c.1211G>T (p.Ser404Ile)
c.1190G>T (p.Ser397Ile)
c.1187G>T (p.Ser396Ile)
c.1169G>T (p.Ser390Ile)
c.1133G>T (p.Ser378Ile)
c.1112G>T (p.Ser371Ile)
c.421+30707C>A (n.421+30707C>A)
n.440+30707C>A
n.242+38102C>A
c.875G>T (p.Ser292Ile)
c.1289G>T (p.Ser430Ile)
6g.32293516C>GCA363561803TSBP1,TSBP1-AS1c.1151G>C (p.Ser384Thr)
c.1154G>C (p.Ser385Thr)
c.1130G>C (p.Ser377Thr)
c.1157G>C (p.Ser386Thr)
c.1109G>C (p.Ser370Thr)
c.1142G>C (p.Ser381Thr)
c.1211G>C (p.Ser404Thr)
c.1190G>C (p.Ser397Thr)
c.1187G>C (p.Ser396Thr)
c.1169G>C (p.Ser390Thr)
c.1133G>C (p.Ser378Thr)
c.1112G>C (p.Ser371Thr)
c.421+30707C>G (n.421+30707C>G)
n.440+30707C>G
n.242+38102C>G
c.875G>C (p.Ser292Thr)
c.1289G>C (p.Ser430Thr)
6g.32293516C>TCA363561804TSBP1,TSBP1-AS1c.1151G>A (p.Ser384Asn)
c.1154G>A (p.Ser385Asn)
c.1130G>A (p.Ser377Asn)
c.1157G>A (p.Ser386Asn)
c.1109G>A (p.Ser370Asn)
c.1142G>A (p.Ser381Asn)
c.1211G>A (p.Ser404Asn)
c.1190G>A (p.Ser397Asn)
c.1187G>A (p.Ser396Asn)
c.1169G>A (p.Ser390Asn)
c.1133G>A (p.Ser378Asn)
c.1112G>A (p.Ser371Asn)
c.421+30707C>T (n.421+30707C>T)
n.440+30707C>T
n.242+38102C>T
c.875G>A (p.Ser292Asn)
c.1289G>A (p.Ser430Asn)
6g.32293518_32293519delCA2678139202TSBP1,TSBP1-AS1c.1150_1151del (p.Gln385ValfsTer?)
c.1153_1154del (p.Gln386ValfsTer?)
c.1129_1130del (p.Gln378ValfsTer?)
c.1156_1157del (p.Gln387ValfsTer?)
c.1108_1109del (p.Gln371ValfsTer?)
c.1141_1142del (p.Gln382ValfsTer?)
c.1210_1211del (p.Gln405ValfsTer?)
c.1189_1190del (p.Gln398ValfsTer?)
c.1186_1187del (p.Gln397ValfsTer?)
c.1168_1169del (p.Gln391ValfsTer?)
c.1132_1133del (p.Gln379ValfsTer?)
c.1111_1112del (p.Gln372ValfsTer?)
c.421+30709_421+30710del (n.421+30709_421+30710del)
n.440+30709_440+30710del
n.242+38104_242+38105del
c.874_875del (p.Gln293ValfsTer?)
c.1288_1289del (p.Gln431ValfsTer?)
 gnomAD v4
6g.32293517T>ACA3740518TSBP1,TSBP1-AS1c.1150A>T (p.Ser384Cys)
c.1153A>T (p.Ser385Cys)
c.1129A>T (p.Ser377Cys)
c.1156A>T (p.Ser386Cys)
c.1108A>T (p.Ser370Cys)
c.1141A>T (p.Ser381Cys)
c.1210A>T (p.Ser404Cys)
c.1189A>T (p.Ser397Cys)
c.1186A>T (p.Ser396Cys)
c.1168A>T (p.Ser390Cys)
c.1132A>T (p.Ser378Cys)
c.1111A>T (p.Ser371Cys)
c.421+30708T>A (n.421+30708T>A)
n.440+30708T>A
n.242+38103T>A
c.874A>T (p.Ser292Cys)
c.1288A>T (p.Ser430Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32293517T>CCA363561805TSBP1,TSBP1-AS1c.1150A>G (p.Ser384Gly)
c.1153A>G (p.Ser385Gly)
c.1129A>G (p.Ser377Gly)
c.1156A>G (p.Ser386Gly)
c.1108A>G (p.Ser370Gly)
c.1141A>G (p.Ser381Gly)
c.1210A>G (p.Ser404Gly)
c.1189A>G (p.Ser397Gly)
c.1186A>G (p.Ser396Gly)
c.1168A>G (p.Ser390Gly)
c.1132A>G (p.Ser378Gly)
c.1111A>G (p.Ser371Gly)
c.421+30708T>C (n.421+30708T>C)
n.440+30708T>C
n.242+38103T>C
c.874A>G (p.Ser292Gly)
c.1288A>G (p.Ser430Gly)
6g.32293517T>GCA363561806TSBP1,TSBP1-AS1c.1150A>C (p.Ser384Arg)
c.1153A>C (p.Ser385Arg)
c.1129A>C (p.Ser377Arg)
c.1156A>C (p.Ser386Arg)
c.1108A>C (p.Ser370Arg)
c.1141A>C (p.Ser381Arg)
c.1210A>C (p.Ser404Arg)
c.1189A>C (p.Ser397Arg)
c.1186A>C (p.Ser396Arg)
c.1168A>C (p.Ser390Arg)
c.1132A>C (p.Ser378Arg)
c.1111A>C (p.Ser371Arg)
c.421+30708T>G (n.421+30708T>G)
n.440+30708T>G
n.242+38103T>G
c.874A>C (p.Ser292Arg)
c.1288A>C (p.Ser430Arg)
6g.32293517T=CA1619500859TSBP1,TSBP1-AS1c.1150A= (p.Ser384=)
c.1153A= (p.Ser385=)
c.1129A= (p.Ser377=)
c.1156A= (p.Ser386=)
c.1108A= (p.Ser370=)
c.1141A= (p.Ser381=)
c.1210A= (p.Ser404=)
c.1189A= (p.Ser397=)
c.1186A= (p.Ser396=)
c.1168A= (p.Ser390=)
c.1132A= (p.Ser378=)
c.1111A= (p.Ser371=)
c.421+30708T= (n.421+30708T=)
n.440+30708T=
n.242+38103T=
c.874A= (p.Ser292=)
c.1288A= (p.Ser430=)
6g.32293518C>ACA363561808TSBP1,TSBP1-AS1c.1149G>T (p.Lys383Asn)
c.1152G>T (p.Lys384Asn)
c.1128G>T (p.Lys376Asn)
c.1155G>T (p.Lys385Asn)
c.1107G>T (p.Lys369Asn)
c.1140G>T (p.Lys380Asn)
c.1209G>T (p.Lys403Asn)
c.1188G>T (p.Lys396Asn)
c.1185G>T (p.Lys395Asn)
c.1167G>T (p.Lys389Asn)
c.1131G>T (p.Lys377Asn)
c.1110G>T (p.Lys370Asn)
c.421+30709C>A (n.421+30709C>A)
n.440+30709C>A
n.242+38104C>A
c.873G>T (p.Lys291Asn)
c.1287G>T (p.Lys429Asn)
6g.32293518C=CA1619500860TSBP1,TSBP1-AS1c.1149G= (p.Lys383=)
c.1152G= (p.Lys384=)
c.1128G= (p.Lys376=)
c.1155G= (p.Lys385=)
c.1107G= (p.Lys369=)
c.1140G= (p.Lys380=)
c.1209G= (p.Lys403=)
c.1188G= (p.Lys396=)
c.1185G= (p.Lys395=)
c.1167G= (p.Lys389=)
c.1131G= (p.Lys377=)
c.1110G= (p.Lys370=)
c.421+30709C= (n.421+30709C=)
n.440+30709C=
n.242+38104C=
c.873G= (p.Lys291=)
c.1287G= (p.Lys429=)
6g.32293518C>GCA363561807TSBP1,TSBP1-AS1c.1149G>C (p.Lys383Asn)
c.1152G>C (p.Lys384Asn)
c.1128G>C (p.Lys376Asn)
c.1155G>C (p.Lys385Asn)
c.1107G>C (p.Lys369Asn)
c.1140G>C (p.Lys380Asn)
c.1209G>C (p.Lys403Asn)
c.1188G>C (p.Lys396Asn)
c.1185G>C (p.Lys395Asn)
c.1167G>C (p.Lys389Asn)
c.1131G>C (p.Lys377Asn)
c.1110G>C (p.Lys370Asn)
c.421+30709C>G (n.421+30709C>G)
n.440+30709C>G
n.242+38104C>G
c.873G>C (p.Lys291Asn)
c.1287G>C (p.Lys429Asn)
6g.32293518C>TCA449829862TSBP1,TSBP1-AS1c.1149G>A (p.Lys383=)
c.1152G>A (p.Lys384=)
c.1128G>A (p.Lys376=)
c.1155G>A (p.Lys385=)
c.1107G>A (p.Lys369=)
c.1140G>A (p.Lys380=)
c.1209G>A (p.Lys403=)
c.1188G>A (p.Lys396=)
c.1185G>A (p.Lys395=)
c.1167G>A (p.Lys389=)
c.1131G>A (p.Lys377=)
c.1110G>A (p.Lys370=)
c.421+30709C>T (n.421+30709C>T)
n.440+30709C>T
n.242+38104C>T
c.873G>A (p.Lys291=)
c.1287G>A (p.Lys429=)
 dbSNP
6g.32293519T>ACA363561809TSBP1,TSBP1-AS1c.1148A>T (p.Lys383Met)
c.1151A>T (p.Lys384Met)
c.1127A>T (p.Lys376Met)
c.1154A>T (p.Lys385Met)
c.1106A>T (p.Lys369Met)
c.1139A>T (p.Lys380Met)
c.1208A>T (p.Lys403Met)
c.1187A>T (p.Lys396Met)
c.1184A>T (p.Lys395Met)
c.1166A>T (p.Lys389Met)
c.1130A>T (p.Lys377Met)
c.1109A>T (p.Lys370Met)
c.421+30710T>A (n.421+30710T>A)
n.440+30710T>A
n.242+38105T>A
c.872A>T (p.Lys291Met)
c.1286A>T (p.Lys429Met)
6g.32293519T>CCA363561810TSBP1,TSBP1-AS1c.1148A>G (p.Lys383Arg)
c.1151A>G (p.Lys384Arg)
c.1127A>G (p.Lys376Arg)
c.1154A>G (p.Lys385Arg)
c.1106A>G (p.Lys369Arg)
c.1139A>G (p.Lys380Arg)
c.1208A>G (p.Lys403Arg)
c.1187A>G (p.Lys396Arg)
c.1184A>G (p.Lys395Arg)
c.1166A>G (p.Lys389Arg)
c.1130A>G (p.Lys377Arg)
c.1109A>G (p.Lys370Arg)
c.421+30710T>C (n.421+30710T>C)
n.440+30710T>C
n.242+38105T>C
c.872A>G (p.Lys291Arg)
c.1286A>G (p.Lys429Arg)
6g.32293519T>GCA363561811TSBP1,TSBP1-AS1c.1148A>C (p.Lys383Thr)
c.1151A>C (p.Lys384Thr)
c.1127A>C (p.Lys376Thr)
c.1154A>C (p.Lys385Thr)
c.1106A>C (p.Lys369Thr)
c.1139A>C (p.Lys380Thr)
c.1208A>C (p.Lys403Thr)
c.1187A>C (p.Lys396Thr)
c.1184A>C (p.Lys395Thr)
c.1166A>C (p.Lys389Thr)
c.1130A>C (p.Lys377Thr)
c.1109A>C (p.Lys370Thr)
c.421+30710T>G (n.421+30710T>G)
n.440+30710T>G
n.242+38105T>G
c.872A>C (p.Lys291Thr)
c.1286A>C (p.Lys429Thr)
6g.32293520T>ACA363561812TSBP1,TSBP1-AS1c.1147A>T (p.Lys383Ter)
c.1150A>T (p.Lys384Ter)
c.1126A>T (p.Lys376Ter)
c.1153A>T (p.Lys385Ter)
c.1105A>T (p.Lys369Ter)
c.1138A>T (p.Lys380Ter)
c.1207A>T (p.Lys403Ter)
c.1186A>T (p.Lys396Ter)
c.1183A>T (p.Lys395Ter)
c.1165A>T (p.Lys389Ter)
c.1129A>T (p.Lys377Ter)
c.1108A>T (p.Lys370Ter)
c.421+30711T>A (n.421+30711T>A)
n.440+30711T>A
n.242+38106T>A
c.871A>T (p.Lys291Ter)
c.1285A>T (p.Lys429Ter)
6g.32293520T>CCA363561813TSBP1,TSBP1-AS1c.1147A>G (p.Lys383Glu)
c.1150A>G (p.Lys384Glu)
c.1126A>G (p.Lys376Glu)
c.1153A>G (p.Lys385Glu)
c.1105A>G (p.Lys369Glu)
c.1138A>G (p.Lys380Glu)
c.1207A>G (p.Lys403Glu)
c.1186A>G (p.Lys396Glu)
c.1183A>G (p.Lys395Glu)
c.1165A>G (p.Lys389Glu)
c.1129A>G (p.Lys377Glu)
c.1108A>G (p.Lys370Glu)
c.421+30711T>C (n.421+30711T>C)
n.440+30711T>C
n.242+38106T>C
c.871A>G (p.Lys291Glu)
c.1285A>G (p.Lys429Glu)
6g.32293520T>GCA363561814TSBP1,TSBP1-AS1c.1147A>C (p.Lys383Gln)
c.1150A>C (p.Lys384Gln)
c.1126A>C (p.Lys376Gln)
c.1153A>C (p.Lys385Gln)
c.1105A>C (p.Lys369Gln)
c.1138A>C (p.Lys380Gln)
c.1207A>C (p.Lys403Gln)
c.1186A>C (p.Lys396Gln)
c.1183A>C (p.Lys395Gln)
c.1165A>C (p.Lys389Gln)
c.1129A>C (p.Lys377Gln)
c.1108A>C (p.Lys370Gln)
c.421+30711T>G (n.421+30711T>G)
n.440+30711T>G
n.242+38106T>G
c.871A>C (p.Lys291Gln)
c.1285A>C (p.Lys429Gln)
6g.32293521C>ACA363561815TSBP1,TSBP1-AS1c.1146G>T (p.Lys382Asn)
c.1149G>T (p.Lys383Asn)
c.1125G>T (p.Lys375Asn)
c.1152G>T (p.Lys384Asn)
c.1104G>T (p.Lys368Asn)
c.1137G>T (p.Lys379Asn)
c.1206G>T (p.Lys402Asn)
c.1185G>T (p.Lys395Asn)
c.1182G>T (p.Lys394Asn)
c.1164G>T (p.Lys388Asn)
c.1128G>T (p.Lys376Asn)
c.1107G>T (p.Lys369Asn)
c.421+30712C>A (n.421+30712C>A)
n.440+30712C>A
n.242+38107C>A
c.870G>T (p.Lys290Asn)
c.1284G>T (p.Lys428Asn)
6g.32293521C=CA1619500861TSBP1,TSBP1-AS1c.1146G= (p.Lys382=)
c.1149G= (p.Lys383=)
c.1125G= (p.Lys375=)
c.1152G= (p.Lys384=)
c.1104G= (p.Lys368=)
c.1137G= (p.Lys379=)
c.1206G= (p.Lys402=)
c.1185G= (p.Lys395=)
c.1182G= (p.Lys394=)
c.1164G= (p.Lys388=)
c.1128G= (p.Lys376=)
c.1107G= (p.Lys369=)
c.421+30712C= (n.421+30712C=)
n.440+30712C=
n.242+38107C=
c.870G= (p.Lys290=)
c.1284G= (p.Lys428=)
6g.32293521C>GCA363561816TSBP1,TSBP1-AS1c.1146G>C (p.Lys382Asn)
c.1149G>C (p.Lys383Asn)
c.1125G>C (p.Lys375Asn)
c.1152G>C (p.Lys384Asn)
c.1104G>C (p.Lys368Asn)
c.1137G>C (p.Lys379Asn)
c.1206G>C (p.Lys402Asn)
c.1185G>C (p.Lys395Asn)
c.1182G>C (p.Lys394Asn)
c.1164G>C (p.Lys388Asn)
c.1128G>C (p.Lys376Asn)
c.1107G>C (p.Lys369Asn)
c.421+30712C>G (n.421+30712C>G)
n.440+30712C>G
n.242+38107C>G
c.870G>C (p.Lys290Asn)
c.1284G>C (p.Lys428Asn)
6g.32293521C>TCA3740519TSBP1,TSBP1-AS1c.1146G>A (p.Lys382=)
c.1149G>A (p.Lys383=)
c.1125G>A (p.Lys375=)
c.1152G>A (p.Lys384=)
c.1104G>A (p.Lys368=)
c.1137G>A (p.Lys379=)
c.1206G>A (p.Lys402=)
c.1185G>A (p.Lys395=)
c.1182G>A (p.Lys394=)
c.1164G>A (p.Lys388=)
c.1128G>A (p.Lys376=)
c.1107G>A (p.Lys369=)
c.421+30712C>T (n.421+30712C>T)
n.440+30712C>T
n.242+38107C>T
c.870G>A (p.Lys290=)
c.1284G>A (p.Lys428=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32293522T>ACA363561817TSBP1,TSBP1-AS1c.1145A>T (p.Lys382Met)
c.1148A>T (p.Lys383Met)
c.1124A>T (p.Lys375Met)
c.1151A>T (p.Lys384Met)
c.1103A>T (p.Lys368Met)
c.1136A>T (p.Lys379Met)
c.1205A>T (p.Lys402Met)
c.1184A>T (p.Lys395Met)
c.1181A>T (p.Lys394Met)
c.1163A>T (p.Lys388Met)
c.1127A>T (p.Lys376Met)
c.1106A>T (p.Lys369Met)
c.421+30713T>A (n.421+30713T>A)
n.440+30713T>A
n.242+38108T>A
c.869A>T (p.Lys290Met)
c.1283A>T (p.Lys428Met)
6g.32293522T>CCA363561818TSBP1,TSBP1-AS1c.1145A>G (p.Lys382Arg)
c.1148A>G (p.Lys383Arg)
c.1124A>G (p.Lys375Arg)
c.1151A>G (p.Lys384Arg)
c.1103A>G (p.Lys368Arg)
c.1136A>G (p.Lys379Arg)
c.1205A>G (p.Lys402Arg)
c.1184A>G (p.Lys395Arg)
c.1181A>G (p.Lys394Arg)
c.1163A>G (p.Lys388Arg)
c.1127A>G (p.Lys376Arg)
c.1106A>G (p.Lys369Arg)
c.421+30713T>C (n.421+30713T>C)
n.440+30713T>C
n.242+38108T>C
c.869A>G (p.Lys290Arg)
c.1283A>G (p.Lys428Arg)
6g.32293522T>GCA363561819TSBP1,TSBP1-AS1c.1145A>C (p.Lys382Thr)
c.1148A>C (p.Lys383Thr)
c.1124A>C (p.Lys375Thr)
c.1151A>C (p.Lys384Thr)
c.1103A>C (p.Lys368Thr)
c.1136A>C (p.Lys379Thr)
c.1205A>C (p.Lys402Thr)
c.1184A>C (p.Lys395Thr)
c.1181A>C (p.Lys394Thr)
c.1163A>C (p.Lys388Thr)
c.1127A>C (p.Lys376Thr)
c.1106A>C (p.Lys369Thr)
c.421+30713T>G (n.421+30713T>G)
n.440+30713T>G
n.242+38108T>G
c.869A>C (p.Lys290Thr)
c.1283A>C (p.Lys428Thr)
 COSMIC
6g.32293523T>ACA363561820TSBP1,TSBP1-AS1c.1144A>T (p.Lys382Ter)
c.1147A>T (p.Lys383Ter)
c.1123A>T (p.Lys375Ter)
c.1150A>T (p.Lys384Ter)
c.1102A>T (p.Lys368Ter)
c.1135A>T (p.Lys379Ter)
c.1204A>T (p.Lys402Ter)
c.1183A>T (p.Lys395Ter)
c.1180A>T (p.Lys394Ter)
c.1162A>T (p.Lys388Ter)
c.1126A>T (p.Lys376Ter)
c.1105A>T (p.Lys369Ter)
c.421+30714T>A (n.421+30714T>A)
n.440+30714T>A
n.242+38109T>A
c.868A>T (p.Lys290Ter)
c.1282A>T (p.Lys428Ter)
6g.32293523T>CCA3740520TSBP1,TSBP1-AS1c.1144A>G (p.Lys382Glu)
c.1147A>G (p.Lys383Glu)
c.1123A>G (p.Lys375Glu)
c.1150A>G (p.Lys384Glu)
c.1102A>G (p.Lys368Glu)
c.1135A>G (p.Lys379Glu)
c.1204A>G (p.Lys402Glu)
c.1183A>G (p.Lys395Glu)
c.1180A>G (p.Lys394Glu)
c.1162A>G (p.Lys388Glu)
c.1126A>G (p.Lys376Glu)
c.1105A>G (p.Lys369Glu)
c.421+30714T>C (n.421+30714T>C)
n.440+30714T>C
n.242+38109T>C
c.868A>G (p.Lys290Glu)
c.1282A>G (p.Lys428Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32293523T>GCA363561821TSBP1,TSBP1-AS1c.1144A>C (p.Lys382Gln)
c.1147A>C (p.Lys383Gln)
c.1123A>C (p.Lys375Gln)
c.1150A>C (p.Lys384Gln)
c.1102A>C (p.Lys368Gln)
c.1135A>C (p.Lys379Gln)
c.1204A>C (p.Lys402Gln)
c.1183A>C (p.Lys395Gln)
c.1180A>C (p.Lys394Gln)
c.1162A>C (p.Lys388Gln)
c.1126A>C (p.Lys376Gln)
c.1105A>C (p.Lys369Gln)
c.421+30714T>G (n.421+30714T>G)
n.440+30714T>G
n.242+38109T>G
c.868A>C (p.Lys290Gln)
c.1282A>C (p.Lys428Gln)
6g.32293523T=CA1619500862TSBP1,TSBP1-AS1c.1144A= (p.Lys382=)
c.1147A= (p.Lys383=)
c.1123A= (p.Lys375=)
c.1150A= (p.Lys384=)
c.1102A= (p.Lys368=)
c.1135A= (p.Lys379=)
c.1204A= (p.Lys402=)
c.1183A= (p.Lys395=)
c.1180A= (p.Lys394=)
c.1162A= (p.Lys388=)
c.1126A= (p.Lys376=)
c.1105A= (p.Lys369=)
c.421+30714T= (n.421+30714T=)
n.440+30714T=
n.242+38109T=
c.868A= (p.Lys290=)
c.1282A= (p.Lys428=)
6g.32293524T>ACA449829875TSBP1,TSBP1-AS1c.1143A>T (p.Val381=)
c.1146A>T (p.Val382=)
c.1122A>T (p.Val374=)
c.1149A>T (p.Val383=)
c.1101A>T (p.Val367=)
c.1134A>T (p.Val378=)
c.1203A>T (p.Val401=)
c.1182A>T (p.Val394=)
c.1179A>T (p.Val393=)
c.1161A>T (p.Val387=)
c.1125A>T (p.Val375=)
c.1104A>T (p.Val368=)
c.421+30715T>A (n.421+30715T>A)
n.440+30715T>A
n.242+38110T>A
c.867A>T (p.Val289=)
c.1281A>T (p.Val427=)
6g.32293524T>CCA449829876TSBP1,TSBP1-AS1c.1143A>G (p.Val381=)
c.1146A>G (p.Val382=)
c.1122A>G (p.Val374=)
c.1149A>G (p.Val383=)
c.1101A>G (p.Val367=)
c.1134A>G (p.Val378=)
c.1203A>G (p.Val401=)
c.1182A>G (p.Val394=)
c.1179A>G (p.Val393=)
c.1161A>G (p.Val387=)
c.1125A>G (p.Val375=)
c.1104A>G (p.Val368=)
c.421+30715T>C (n.421+30715T>C)
n.440+30715T>C
n.242+38110T>C
c.867A>G (p.Val289=)
c.1281A>G (p.Val427=)
6g.32293524T>GCA449829877TSBP1,TSBP1-AS1c.1143A>C (p.Val381=)
c.1146A>C (p.Val382=)
c.1122A>C (p.Val374=)
c.1149A>C (p.Val383=)
c.1101A>C (p.Val367=)
c.1134A>C (p.Val378=)
c.1203A>C (p.Val401=)
c.1182A>C (p.Val394=)
c.1179A>C (p.Val393=)
c.1161A>C (p.Val387=)
c.1125A>C (p.Val375=)
c.1104A>C (p.Val368=)
c.421+30715T>G (n.421+30715T>G)
n.440+30715T>G
n.242+38110T>G
c.867A>C (p.Val289=)
c.1281A>C (p.Val427=)
6g.32293525A=CA1619500863TSBP1,TSBP1-AS1c.1142T= (p.Val381=)
c.1145T= (p.Val382=)
c.1121T= (p.Val374=)
c.1148T= (p.Val383=)
c.1100T= (p.Val367=)
c.1133T= (p.Val378=)
c.1202T= (p.Val401=)
c.1181T= (p.Val394=)
c.1178T= (p.Val393=)
c.1160T= (p.Val387=)
c.1124T= (p.Val375=)
c.1103T= (p.Val368=)
c.421+30716A= (n.421+30716A=)
n.440+30716A=
n.242+38111A=
c.866T= (p.Val289=)
c.1280T= (p.Val427=)
6g.32293525A>CCA363561823TSBP1,TSBP1-AS1c.1142T>G (p.Val381Gly)
c.1145T>G (p.Val382Gly)
c.1121T>G (p.Val374Gly)
c.1148T>G (p.Val383Gly)
c.1100T>G (p.Val367Gly)
c.1133T>G (p.Val378Gly)
c.1202T>G (p.Val401Gly)
c.1181T>G (p.Val394Gly)
c.1178T>G (p.Val393Gly)
c.1160T>G (p.Val387Gly)
c.1124T>G (p.Val375Gly)
c.1103T>G (p.Val368Gly)
c.421+30716A>C (n.421+30716A>C)
n.440+30716A>C
n.242+38111A>C
c.866T>G (p.Val289Gly)
c.1280T>G (p.Val427Gly)
6g.32293525A>GCA136929650TSBP1,TSBP1-AS1c.1142T>C (p.Val381Ala)
c.1145T>C (p.Val382Ala)
c.1121T>C (p.Val374Ala)
c.1148T>C (p.Val383Ala)
c.1100T>C (p.Val367Ala)
c.1133T>C (p.Val378Ala)
c.1202T>C (p.Val401Ala)
c.1181T>C (p.Val394Ala)
c.1178T>C (p.Val393Ala)
c.1160T>C (p.Val387Ala)
c.1124T>C (p.Val375Ala)
c.1103T>C (p.Val368Ala)
c.421+30716A>G (n.421+30716A>G)
n.440+30716A>G
n.242+38111A>G
c.866T>C (p.Val289Ala)
c.1280T>C (p.Val427Ala)
 dbSNP gnomAD v3 gnomAD v4
6g.32293525A>TCA363561822TSBP1,TSBP1-AS1c.1142T>A (p.Val381Glu)
c.1145T>A (p.Val382Glu)
c.1121T>A (p.Val374Glu)
c.1148T>A (p.Val383Glu)
c.1100T>A (p.Val367Glu)
c.1133T>A (p.Val378Glu)
c.1202T>A (p.Val401Glu)
c.1181T>A (p.Val394Glu)
c.1178T>A (p.Val393Glu)
c.1160T>A (p.Val387Glu)
c.1124T>A (p.Val375Glu)
c.1103T>A (p.Val368Glu)
c.421+30716A>T (n.421+30716A>T)
n.440+30716A>T
n.242+38111A>T
c.866T>A (p.Val289Glu)
c.1280T>A (p.Val427Glu)
6g.32293526C>ACA363561824TSBP1,TSBP1-AS1c.1141G>T (p.Val381Leu)
c.1144G>T (p.Val382Leu)
c.1120G>T (p.Val374Leu)
c.1147G>T (p.Val383Leu)
c.1099G>T (p.Val367Leu)
c.1132G>T (p.Val378Leu)
c.1201G>T (p.Val401Leu)
c.1180G>T (p.Val394Leu)
c.1177G>T (p.Val393Leu)
c.1159G>T (p.Val387Leu)
c.1123G>T (p.Val375Leu)
c.1102G>T (p.Val368Leu)
c.421+30717C>A (n.421+30717C>A)
n.440+30717C>A
n.242+38112C>A
c.865G>T (p.Val289Leu)
c.1279G>T (p.Val427Leu)
6g.32293526C>GCA363561825TSBP1,TSBP1-AS1c.1141G>C (p.Val381Leu)
c.1144G>C (p.Val382Leu)
c.1120G>C (p.Val374Leu)
c.1147G>C (p.Val383Leu)
c.1099G>C (p.Val367Leu)
c.1132G>C (p.Val378Leu)
c.1201G>C (p.Val401Leu)
c.1180G>C (p.Val394Leu)
c.1177G>C (p.Val393Leu)
c.1159G>C (p.Val387Leu)
c.1123G>C (p.Val375Leu)
c.1102G>C (p.Val368Leu)
c.421+30717C>G (n.421+30717C>G)
n.440+30717C>G
n.242+38112C>G
c.865G>C (p.Val289Leu)
c.1279G>C (p.Val427Leu)
6g.32293526C>TCA363561826TSBP1,TSBP1-AS1c.1141G>A (p.Val381Ile)
c.1144G>A (p.Val382Ile)
c.1120G>A (p.Val374Ile)
c.1147G>A (p.Val383Ile)
c.1099G>A (p.Val367Ile)
c.1132G>A (p.Val378Ile)
c.1201G>A (p.Val401Ile)
c.1180G>A (p.Val394Ile)
c.1177G>A (p.Val393Ile)
c.1159G>A (p.Val387Ile)
c.1123G>A (p.Val375Ile)
c.1102G>A (p.Val368Ile)
c.421+30717C>T (n.421+30717C>T)
n.440+30717C>T
n.242+38112C>T
c.865G>A (p.Val289Ile)
c.1279G>A (p.Val427Ile)
6g.32293527T>ACA363561827TSBP1,TSBP1-AS1c.1140A>T (p.Gln380His)
c.1143A>T (p.Gln381His)
c.1119A>T (p.Gln373His)
c.1146A>T (p.Gln382His)
c.1098A>T (p.Gln366His)
c.1131A>T (p.Gln377His)
c.1200A>T (p.Gln400His)
c.1179A>T (p.Gln393His)
c.1176A>T (p.Gln392His)
c.1158A>T (p.Gln386His)
c.1122A>T (p.Gln374His)
c.1101A>T (p.Gln367His)
c.421+30718T>A (n.421+30718T>A)
n.440+30718T>A
n.242+38113T>A
c.864A>T (p.Gln288His)
c.1278A>T (p.Gln426His)
 gnomAD v4
6g.32293527T>CCA449829884TSBP1,TSBP1-AS1c.1140A>G (p.Gln380=)
c.1143A>G (p.Gln381=)
c.1119A>G (p.Gln373=)
c.1146A>G (p.Gln382=)
c.1098A>G (p.Gln366=)
c.1131A>G (p.Gln377=)
c.1200A>G (p.Gln400=)
c.1179A>G (p.Gln393=)
c.1176A>G (p.Gln392=)
c.1158A>G (p.Gln386=)
c.1122A>G (p.Gln374=)
c.1101A>G (p.Gln367=)
c.421+30718T>C (n.421+30718T>C)
n.440+30718T>C
n.242+38113T>C
c.864A>G (p.Gln288=)
c.1278A>G (p.Gln426=)
6g.32293527T>GCA363561828TSBP1,TSBP1-AS1c.1140A>C (p.Gln380His)
c.1143A>C (p.Gln381His)
c.1119A>C (p.Gln373His)
c.1146A>C (p.Gln382His)
c.1098A>C (p.Gln366His)
c.1131A>C (p.Gln377His)
c.1200A>C (p.Gln400His)
c.1179A>C (p.Gln393His)
c.1176A>C (p.Gln392His)
c.1158A>C (p.Gln386His)
c.1122A>C (p.Gln374His)
c.1101A>C (p.Gln367His)
c.421+30718T>G (n.421+30718T>G)
n.440+30718T>G
n.242+38113T>G
c.864A>C (p.Gln288His)
c.1278A>C (p.Gln426His)
6g.32293528T>ACA363561829TSBP1,TSBP1-AS1c.1139A>T (p.Gln380Leu)
c.1142A>T (p.Gln381Leu)
c.1118A>T (p.Gln373Leu)
c.1145A>T (p.Gln382Leu)
c.1097A>T (p.Gln366Leu)
c.1130A>T (p.Gln377Leu)
c.1199A>T (p.Gln400Leu)
c.1178A>T (p.Gln393Leu)
c.1175A>T (p.Gln392Leu)
c.1157A>T (p.Gln386Leu)
c.1121A>T (p.Gln374Leu)
c.1100A>T (p.Gln367Leu)
c.421+30719T>A (n.421+30719T>A)
n.440+30719T>A
n.242+38114T>A
c.863A>T (p.Gln288Leu)
c.1277A>T (p.Gln426Leu)
6g.32293528T>CCA363561831TSBP1,TSBP1-AS1c.1139A>G (p.Gln380Arg)
c.1142A>G (p.Gln381Arg)
c.1118A>G (p.Gln373Arg)
c.1145A>G (p.Gln382Arg)
c.1097A>G (p.Gln366Arg)
c.1130A>G (p.Gln377Arg)
c.1199A>G (p.Gln400Arg)
c.1178A>G (p.Gln393Arg)
c.1175A>G (p.Gln392Arg)
c.1157A>G (p.Gln386Arg)
c.1121A>G (p.Gln374Arg)
c.1100A>G (p.Gln367Arg)
c.421+30719T>C (n.421+30719T>C)
n.440+30719T>C
n.242+38114T>C
c.863A>G (p.Gln288Arg)
c.1277A>G (p.Gln426Arg)
6g.32293528T>GCA363561830TSBP1,TSBP1-AS1c.1139A>C (p.Gln380Pro)
c.1142A>C (p.Gln381Pro)
c.1118A>C (p.Gln373Pro)
c.1145A>C (p.Gln382Pro)
c.1097A>C (p.Gln366Pro)
c.1130A>C (p.Gln377Pro)
c.1199A>C (p.Gln400Pro)
c.1178A>C (p.Gln393Pro)
c.1175A>C (p.Gln392Pro)
c.1157A>C (p.Gln386Pro)
c.1121A>C (p.Gln374Pro)
c.1100A>C (p.Gln367Pro)
c.421+30719T>G (n.421+30719T>G)
n.440+30719T>G
n.242+38114T>G
c.863A>C (p.Gln288Pro)
c.1277A>C (p.Gln426Pro)
6g.32293529G>ACA363561832TSBP1,TSBP1-AS1c.1138C>T (p.Gln380Ter)
c.1141C>T (p.Gln381Ter)
c.1117C>T (p.Gln373Ter)
c.1144C>T (p.Gln382Ter)
c.1096C>T (p.Gln366Ter)
c.1129C>T (p.Gln377Ter)
c.1198C>T (p.Gln400Ter)
c.1177C>T (p.Gln393Ter)
c.1174C>T (p.Gln392Ter)
c.1156C>T (p.Gln386Ter)
c.1120C>T (p.Gln374Ter)
c.1099C>T (p.Gln367Ter)
c.421+30720G>A (n.421+30720G>A)
n.440+30720G>A
n.242+38115G>A
c.862C>T (p.Gln288Ter)
c.1276C>T (p.Gln426Ter)
6g.32293529G>CCA363561833TSBP1,TSBP1-AS1c.1138C>G (p.Gln380Glu)
c.1141C>G (p.Gln381Glu)
c.1117C>G (p.Gln373Glu)
c.1144C>G (p.Gln382Glu)
c.1096C>G (p.Gln366Glu)
c.1129C>G (p.Gln377Glu)
c.1198C>G (p.Gln400Glu)
c.1177C>G (p.Gln393Glu)
c.1174C>G (p.Gln392Glu)
c.1156C>G (p.Gln386Glu)
c.1120C>G (p.Gln374Glu)
c.1099C>G (p.Gln367Glu)
c.421+30720G>C (n.421+30720G>C)
n.440+30720G>C
n.242+38115G>C
c.862C>G (p.Gln288Glu)
c.1276C>G (p.Gln426Glu)
 dbSNP
6g.32293529G>TCA363561834TSBP1,TSBP1-AS1c.1138C>A (p.Gln380Lys)
c.1141C>A (p.Gln381Lys)
c.1117C>A (p.Gln373Lys)
c.1144C>A (p.Gln382Lys)
c.1096C>A (p.Gln366Lys)
c.1129C>A (p.Gln377Lys)
c.1198C>A (p.Gln400Lys)
c.1177C>A (p.Gln393Lys)
c.1174C>A (p.Gln392Lys)
c.1156C>A (p.Gln386Lys)
c.1120C>A (p.Gln374Lys)
c.1099C>A (p.Gln367Lys)
c.421+30720G>T (n.421+30720G>T)
n.440+30720G>T
n.242+38115G>T
c.862C>A (p.Gln288Lys)
c.1276C>A (p.Gln426Lys)
6g.32293530G>ACA449829894TSBP1,TSBP1-AS1c.1137C>T (p.Ser379=)
c.1140C>T (p.Ser380=)
c.1116C>T (p.Ser372=)
c.1143C>T (p.Ser381=)
c.1095C>T (p.Ser365=)
c.1128C>T (p.Ser376=)
c.1197C>T (p.Ser399=)
c.1176C>T (p.Ser392=)
c.1173C>T (p.Ser391=)
c.1155C>T (p.Ser385=)
c.1119C>T (p.Ser373=)
c.1098C>T (p.Ser366=)
c.421+30721G>A (n.421+30721G>A)
n.440+30721G>A
n.242+38116G>A
c.861C>T (p.Ser287=)
c.1275C>T (p.Ser425=)
 gnomAD v4
6g.32293530G>CCA449829895TSBP1,TSBP1-AS1c.1137C>G (p.Ser379=)
c.1140C>G (p.Ser380=)
c.1116C>G (p.Ser372=)
c.1143C>G (p.Ser381=)
c.1095C>G (p.Ser365=)
c.1128C>G (p.Ser376=)
c.1197C>G (p.Ser399=)
c.1176C>G (p.Ser392=)
c.1173C>G (p.Ser391=)
c.1155C>G (p.Ser385=)
c.1119C>G (p.Ser373=)
c.1098C>G (p.Ser366=)
c.421+30721G>C (n.421+30721G>C)
n.440+30721G>C
n.242+38116G>C
c.861C>G (p.Ser287=)
c.1275C>G (p.Ser425=)
6g.32293530G>TCA449829896TSBP1,TSBP1-AS1c.1137C>A (p.Ser379=)
c.1140C>A (p.Ser380=)
c.1116C>A (p.Ser372=)
c.1143C>A (p.Ser381=)
c.1095C>A (p.Ser365=)
c.1128C>A (p.Ser376=)
c.1197C>A (p.Ser399=)
c.1176C>A (p.Ser392=)
c.1173C>A (p.Ser391=)
c.1155C>A (p.Ser385=)
c.1119C>A (p.Ser373=)
c.1098C>A (p.Ser366=)
c.421+30721G>T (n.421+30721G>T)
n.440+30721G>T
n.242+38116G>T
c.861C>A (p.Ser287=)
c.1275C>A (p.Ser425=)
6g.32293531G>ACA363561835TSBP1,TSBP1-AS1c.1136C>T (p.Ser379Phe)
c.1139C>T (p.Ser380Phe)
c.1115C>T (p.Ser372Phe)
c.1142C>T (p.Ser381Phe)
c.1094C>T (p.Ser365Phe)
c.1127C>T (p.Ser376Phe)
c.1196C>T (p.Ser399Phe)
c.1175C>T (p.Ser392Phe)
c.1172C>T (p.Ser391Phe)
c.1154C>T (p.Ser385Phe)
c.1118C>T (p.Ser373Phe)
c.1097C>T (p.Ser366Phe)
c.421+30722G>A (n.421+30722G>A)
n.440+30722G>A
n.242+38117G>A
c.860C>T (p.Ser287Phe)
c.1274C>T (p.Ser425Phe)
6g.32293531G>CCA363561836TSBP1,TSBP1-AS1c.1136C>G (p.Ser379Cys)
c.1139C>G (p.Ser380Cys)
c.1115C>G (p.Ser372Cys)
c.1142C>G (p.Ser381Cys)
c.1094C>G (p.Ser365Cys)
c.1127C>G (p.Ser376Cys)
c.1196C>G (p.Ser399Cys)
c.1175C>G (p.Ser392Cys)
c.1172C>G (p.Ser391Cys)
c.1154C>G (p.Ser385Cys)
c.1118C>G (p.Ser373Cys)
c.1097C>G (p.Ser366Cys)
c.421+30722G>C (n.421+30722G>C)
n.440+30722G>C
n.242+38117G>C
c.860C>G (p.Ser287Cys)
c.1274C>G (p.Ser425Cys)
6g.32293531G>TCA363561837TSBP1,TSBP1-AS1c.1136C>A (p.Ser379Tyr)
c.1139C>A (p.Ser380Tyr)
c.1115C>A (p.Ser372Tyr)
c.1142C>A (p.Ser381Tyr)
c.1094C>A (p.Ser365Tyr)
c.1127C>A (p.Ser376Tyr)
c.1196C>A (p.Ser399Tyr)
c.1175C>A (p.Ser392Tyr)
c.1172C>A (p.Ser391Tyr)
c.1154C>A (p.Ser385Tyr)
c.1118C>A (p.Ser373Tyr)
c.1097C>A (p.Ser366Tyr)
c.421+30722G>T (n.421+30722G>T)
n.440+30722G>T
n.242+38117G>T
c.860C>A (p.Ser287Tyr)
c.1274C>A (p.Ser425Tyr)
6g.32293532A=CA1619500864TSBP1,TSBP1-AS1c.1135T= (p.Ser379=)
c.1138T= (p.Ser380=)
c.1114T= (p.Ser372=)
c.1141T= (p.Ser381=)
c.1093T= (p.Ser365=)
c.1126T= (p.Ser376=)
c.1195T= (p.Ser399=)
c.1174T= (p.Ser392=)
c.1171T= (p.Ser391=)
c.1153T= (p.Ser385=)
c.1117T= (p.Ser373=)
c.1096T= (p.Ser366=)
c.421+30723A= (n.421+30723A=)
n.440+30723A=
n.242+38118A=
c.859T= (p.Ser287=)
c.1273T= (p.Ser425=)
6g.32293532A>CCA363561838TSBP1,TSBP1-AS1c.1135T>G (p.Ser379Ala)
c.1138T>G (p.Ser380Ala)
c.1114T>G (p.Ser372Ala)
c.1141T>G (p.Ser381Ala)
c.1093T>G (p.Ser365Ala)
c.1126T>G (p.Ser376Ala)
c.1195T>G (p.Ser399Ala)
c.1174T>G (p.Ser392Ala)
c.1171T>G (p.Ser391Ala)
c.1153T>G (p.Ser385Ala)
c.1117T>G (p.Ser373Ala)
c.1096T>G (p.Ser366Ala)
c.421+30723A>C (n.421+30723A>C)
n.440+30723A>C
n.242+38118A>C
c.859T>G (p.Ser287Ala)
c.1273T>G (p.Ser425Ala)
6g.32293532A>GCA363561839TSBP1,TSBP1-AS1c.1135T>C (p.Ser379Pro)
c.1138T>C (p.Ser380Pro)
c.1114T>C (p.Ser372Pro)
c.1141T>C (p.Ser381Pro)
c.1093T>C (p.Ser365Pro)
c.1126T>C (p.Ser376Pro)
c.1195T>C (p.Ser399Pro)
c.1174T>C (p.Ser392Pro)
c.1171T>C (p.Ser391Pro)
c.1153T>C (p.Ser385Pro)
c.1117T>C (p.Ser373Pro)
c.1096T>C (p.Ser366Pro)
c.421+30723A>G (n.421+30723A>G)
n.440+30723A>G
n.242+38118A>G
c.859T>C (p.Ser287Pro)
c.1273T>C (p.Ser425Pro)
6g.32293532A>TCA363561840TSBP1,TSBP1-AS1c.1135T>A (p.Ser379Thr)
c.1138T>A (p.Ser380Thr)
c.1114T>A (p.Ser372Thr)
c.1141T>A (p.Ser381Thr)
c.1093T>A (p.Ser365Thr)
c.1126T>A (p.Ser376Thr)
c.1195T>A (p.Ser399Thr)
c.1174T>A (p.Ser392Thr)
c.1171T>A (p.Ser391Thr)
c.1153T>A (p.Ser385Thr)
c.1117T>A (p.Ser373Thr)
c.1096T>A (p.Ser366Thr)
c.421+30723A>T (n.421+30723A>T)
n.440+30723A>T
n.242+38118A>T
c.859T>A (p.Ser287Thr)
c.1273T>A (p.Ser425Thr)
6g.32293533T>ACA136929653TSBP1,TSBP1-AS1c.1134A>T (p.Glu378Asp)
c.1137A>T (p.Glu379Asp)
c.1113A>T (p.Glu371Asp)
c.1140A>T (p.Glu380Asp)
c.1092A>T (p.Glu364Asp)
c.1125A>T (p.Glu375Asp)
c.1194A>T (p.Glu398Asp)
c.1173A>T (p.Glu391Asp)
c.1170A>T (p.Glu390Asp)
c.1152A>T (p.Glu384Asp)
c.1116A>T (p.Glu372Asp)
c.1095A>T (p.Glu365Asp)
c.421+30724T>A (n.421+30724T>A)
n.440+30724T>A
n.242+38119T>A
c.858A>T (p.Glu286Asp)
c.1272A>T (p.Glu424Asp)
 dbSNP
6g.32293533T>CCA449829902TSBP1,TSBP1-AS1c.1134A>G (p.Glu378=)
c.1137A>G (p.Glu379=)
c.1113A>G (p.Glu371=)
c.1140A>G (p.Glu380=)
c.1092A>G (p.Glu364=)
c.1125A>G (p.Glu375=)
c.1194A>G (p.Glu398=)
c.1173A>G (p.Glu391=)
c.1170A>G (p.Glu390=)
c.1152A>G (p.Glu384=)
c.1116A>G (p.Glu372=)
c.1095A>G (p.Glu365=)
c.421+30724T>C (n.421+30724T>C)
n.440+30724T>C
n.242+38119T>C
c.858A>G (p.Glu286=)
c.1272A>G (p.Glu424=)
 gnomAD v4
6g.32293533T>GCA363561841TSBP1,TSBP1-AS1c.1134A>C (p.Glu378Asp)
c.1137A>C (p.Glu379Asp)
c.1113A>C (p.Glu371Asp)
c.1140A>C (p.Glu380Asp)
c.1092A>C (p.Glu364Asp)
c.1125A>C (p.Glu375Asp)
c.1194A>C (p.Glu398Asp)
c.1173A>C (p.Glu391Asp)
c.1170A>C (p.Glu390Asp)
c.1152A>C (p.Glu384Asp)
c.1116A>C (p.Glu372Asp)
c.1095A>C (p.Glu365Asp)
c.421+30724T>G (n.421+30724T>G)
n.440+30724T>G
n.242+38119T>G
c.858A>C (p.Glu286Asp)
c.1272A>C (p.Glu424Asp)
6g.32293533T=CA1619500865TSBP1,TSBP1-AS1c.1134A= (p.Glu378=)
c.1137A= (p.Glu379=)
c.1113A= (p.Glu371=)
c.1140A= (p.Glu380=)
c.1092A= (p.Glu364=)
c.1125A= (p.Glu375=)
c.1194A= (p.Glu398=)
c.1173A= (p.Glu391=)
c.1170A= (p.Glu390=)
c.1152A= (p.Glu384=)
c.1116A= (p.Glu372=)
c.1095A= (p.Glu365=)
c.421+30724T= (n.421+30724T=)
n.440+30724T=
n.242+38119T=
c.858A= (p.Glu286=)
c.1272A= (p.Glu424=)
6g.32293541_32293585dupCA3740521TSBP1,TSBP1-AS1c.1090_1134dup (p.Glu378_Ser379insAlaGlnValGluLysSerGluMetGlyValProArgArgGlnGlu)
c.1093_1137dup (p.Glu379_Ser380insAlaGlnValGluLysSerGluMetGlyValProArgArgGlnGlu)
c.1069_1113dup (p.Glu371_Ser372insAlaGlnValGluLysSerGluMetGlyValProArgArgGlnGlu)
c.1096_1140dup (p.Glu380_Ser381insAlaGlnValGluLysSerGluMetGlyValProArgArgGlnGlu)
c.1048_1092dup (p.Glu364_Ser365insAlaGlnValGluLysSerGluMetGlyValProArgArgGlnGlu)
c.1081_1125dup (p.Glu375_Ser376insAlaGlnValGluLysSerGluMetGlyValProArgArgGlnGlu)
c.1150_1194dup (p.Glu398_Ser399insAlaGlnValGluLysSerGluMetGlyValProArgArgGlnGlu)
c.1129_1173dup (p.Glu391_Ser392insAlaGlnValGluLysSerGluMetGlyValProArgArgGlnGlu)
c.1126_1170dup (p.Glu390_Ser391insAlaGlnValGluLysSerGluMetGlyValProArgArgGlnGlu)
c.1108_1152dup (p.Glu384_Ser385insAlaGlnValGluLysSerGluMetGlyValProArgArgGlnGlu)
c.1072_1116dup (p.Glu372_Ser373insAlaGlnValGluLysSerGluMetGlyValProArgArgGlnGlu)
c.1051_1095dup (p.Glu365_Ser366insAlaGlnValGluLysSerGluMetGlyValProArgArgGlnGlu)
c.421+30732_421+30776dup (n.421+30732_421+30776dup)
n.440+30732_440+30776dup
n.242+38127_242+38171dup
c.814_858dup (p.Glu286_Ser287insAlaGlnValGluLysSerGluMetGlyValProArgArgGlnGlu)
c.1228_1272dup (p.Glu424_Ser425insAlaGlnValGluLysSerGluMetGlyValProArgArgGlnGlu)
 dbSNP ExAC gnomAD v2
6g.32293534T>ACA363561844TSBP1,TSBP1-AS1c.1133A>T (p.Glu378Val)
c.1136A>T (p.Glu379Val)
c.1112A>T (p.Glu371Val)
c.1139A>T (p.Glu380Val)
c.1091A>T (p.Glu364Val)
c.1124A>T (p.Glu375Val)
c.1193A>T (p.Glu398Val)
c.1172A>T (p.Glu391Val)
c.1169A>T (p.Glu390Val)
c.1151A>T (p.Glu384Val)
c.1115A>T (p.Glu372Val)
c.1094A>T (p.Glu365Val)
c.421+30725T>A (n.421+30725T>A)
n.440+30725T>A
n.242+38120T>A
c.857A>T (p.Glu286Val)
c.1271A>T (p.Glu424Val)
6g.32293534T>CCA363561843TSBP1,TSBP1-AS1c.1133A>G (p.Glu378Gly)
c.1136A>G (p.Glu379Gly)
c.1112A>G (p.Glu371Gly)
c.1139A>G (p.Glu380Gly)
c.1091A>G (p.Glu364Gly)
c.1124A>G (p.Glu375Gly)
c.1193A>G (p.Glu398Gly)
c.1172A>G (p.Glu391Gly)
c.1169A>G (p.Glu390Gly)
c.1151A>G (p.Glu384Gly)
c.1115A>G (p.Glu372Gly)
c.1094A>G (p.Glu365Gly)
c.421+30725T>C (n.421+30725T>C)
n.440+30725T>C
n.242+38120T>C
c.857A>G (p.Glu286Gly)
c.1271A>G (p.Glu424Gly)
6g.32293534T>GCA363561842TSBP1,TSBP1-AS1c.1133A>C (p.Glu378Ala)
c.1136A>C (p.Glu379Ala)
c.1112A>C (p.Glu371Ala)
c.1139A>C (p.Glu380Ala)
c.1091A>C (p.Glu364Ala)
c.1124A>C (p.Glu375Ala)
c.1193A>C (p.Glu398Ala)
c.1172A>C (p.Glu391Ala)
c.1169A>C (p.Glu390Ala)
c.1151A>C (p.Glu384Ala)
c.1115A>C (p.Glu372Ala)
c.1094A>C (p.Glu365Ala)
c.421+30725T>G (n.421+30725T>G)
n.440+30725T>G
n.242+38120T>G
c.857A>C (p.Glu286Ala)
c.1271A>C (p.Glu424Ala)
6g.32293535C>ACA363561846TSBP1,TSBP1-AS1c.1132G>T (p.Glu378Ter)
c.1135G>T (p.Glu379Ter)
c.1111G>T (p.Glu371Ter)
c.1138G>T (p.Glu380Ter)
c.1090G>T (p.Glu364Ter)
c.1123G>T (p.Glu375Ter)
c.1192G>T (p.Glu398Ter)
c.1171G>T (p.Glu391Ter)
c.1168G>T (p.Glu390Ter)
c.1150G>T (p.Glu384Ter)
c.1114G>T (p.Glu372Ter)
c.1093G>T (p.Glu365Ter)
c.421+30726C>A (n.421+30726C>A)
n.440+30726C>A
n.242+38121C>A
c.856G>T (p.Glu286Ter)
c.1270G>T (p.Glu424Ter)
6g.32293535C>GCA363561845TSBP1,TSBP1-AS1c.1132G>C (p.Glu378Gln)
c.1135G>C (p.Glu379Gln)
c.1111G>C (p.Glu371Gln)
c.1138G>C (p.Glu380Gln)
c.1090G>C (p.Glu364Gln)
c.1123G>C (p.Glu375Gln)
c.1192G>C (p.Glu398Gln)
c.1171G>C (p.Glu391Gln)
c.1168G>C (p.Glu390Gln)
c.1150G>C (p.Glu384Gln)
c.1114G>C (p.Glu372Gln)
c.1093G>C (p.Glu365Gln)
c.421+30726C>G (n.421+30726C>G)
n.440+30726C>G
n.242+38121C>G
c.856G>C (p.Glu286Gln)
c.1270G>C (p.Glu424Gln)
6g.32293535C>TCA363561847TSBP1,TSBP1-AS1c.1132G>A (p.Glu378Lys)
c.1135G>A (p.Glu379Lys)
c.1111G>A (p.Glu371Lys)
c.1138G>A (p.Glu380Lys)
c.1090G>A (p.Glu364Lys)
c.1123G>A (p.Glu375Lys)
c.1192G>A (p.Glu398Lys)
c.1171G>A (p.Glu391Lys)
c.1168G>A (p.Glu390Lys)
c.1150G>A (p.Glu384Lys)
c.1114G>A (p.Glu372Lys)
c.1093G>A (p.Glu365Lys)
c.421+30726C>T (n.421+30726C>T)
n.440+30726C>T
n.242+38121C>T
c.856G>A (p.Glu286Lys)
c.1270G>A (p.Glu424Lys)
6g.32293536C>ACA363561848TSBP1,TSBP1-AS1c.1131G>T (p.Gln377His)
c.1134G>T (p.Gln378His)
c.1110G>T (p.Gln370His)
c.1137G>T (p.Gln379His)
c.1089G>T (p.Gln363His)
c.1122G>T (p.Gln374His)
c.1191G>T (p.Gln397His)
c.1170G>T (p.Gln390His)
c.1167G>T (p.Gln389His)
c.1149G>T (p.Gln383His)
c.1113G>T (p.Gln371His)
c.1092G>T (p.Gln364His)
c.421+30727C>A (n.421+30727C>A)
n.440+30727C>A
n.242+38122C>A
c.855G>T (p.Gln285His)
c.1269G>T (p.Gln423His)
6g.32293536C>GCA363561849TSBP1,TSBP1-AS1c.1131G>C (p.Gln377His)
c.1134G>C (p.Gln378His)
c.1110G>C (p.Gln370His)
c.1137G>C (p.Gln379His)
c.1089G>C (p.Gln363His)
c.1122G>C (p.Gln374His)
c.1191G>C (p.Gln397His)
c.1170G>C (p.Gln390His)
c.1167G>C (p.Gln389His)
c.1149G>C (p.Gln383His)
c.1113G>C (p.Gln371His)
c.1092G>C (p.Gln364His)
c.421+30727C>G (n.421+30727C>G)
n.440+30727C>G
n.242+38122C>G
c.855G>C (p.Gln285His)
c.1269G>C (p.Gln423His)
6g.32293536C>TCA449829905TSBP1,TSBP1-AS1c.1131G>A (p.Gln377=)
c.1134G>A (p.Gln378=)
c.1110G>A (p.Gln370=)
c.1137G>A (p.Gln379=)
c.1089G>A (p.Gln363=)
c.1122G>A (p.Gln374=)
c.1191G>A (p.Gln397=)
c.1170G>A (p.Gln390=)
c.1167G>A (p.Gln389=)
c.1149G>A (p.Gln383=)
c.1113G>A (p.Gln371=)
c.1092G>A (p.Gln364=)
c.421+30727C>T (n.421+30727C>T)
n.440+30727C>T
n.242+38122C>T
c.855G>A (p.Gln285=)
c.1269G>A (p.Gln423=)
6g.32293537T>ACA363561850TSBP1,TSBP1-AS1c.1130A>T (p.Gln377Leu)
c.1133A>T (p.Gln378Leu)
c.1109A>T (p.Gln370Leu)
c.1136A>T (p.Gln379Leu)
c.1088A>T (p.Gln363Leu)
c.1121A>T (p.Gln374Leu)
c.1190A>T (p.Gln397Leu)
c.1169A>T (p.Gln390Leu)
c.1166A>T (p.Gln389Leu)
c.1148A>T (p.Gln383Leu)
c.1112A>T (p.Gln371Leu)
c.1091A>T (p.Gln364Leu)
c.421+30728T>A (n.421+30728T>A)
n.440+30728T>A
n.242+38123T>A
c.854A>T (p.Gln285Leu)
c.1268A>T (p.Gln423Leu)
6g.32293537T>CCA363561852TSBP1,TSBP1-AS1c.1130A>G (p.Gln377Arg)
c.1133A>G (p.Gln378Arg)
c.1109A>G (p.Gln370Arg)
c.1136A>G (p.Gln379Arg)
c.1088A>G (p.Gln363Arg)
c.1121A>G (p.Gln374Arg)
c.1190A>G (p.Gln397Arg)
c.1169A>G (p.Gln390Arg)
c.1166A>G (p.Gln389Arg)
c.1148A>G (p.Gln383Arg)
c.1112A>G (p.Gln371Arg)
c.1091A>G (p.Gln364Arg)
c.421+30728T>C (n.421+30728T>C)
n.440+30728T>C
n.242+38123T>C
c.854A>G (p.Gln285Arg)
c.1268A>G (p.Gln423Arg)
6g.32293537T>GCA363561851TSBP1,TSBP1-AS1c.1130A>C (p.Gln377Pro)
c.1133A>C (p.Gln378Pro)
c.1109A>C (p.Gln370Pro)
c.1136A>C (p.Gln379Pro)
c.1088A>C (p.Gln363Pro)
c.1121A>C (p.Gln374Pro)
c.1190A>C (p.Gln397Pro)
c.1169A>C (p.Gln390Pro)
c.1166A>C (p.Gln389Pro)
c.1148A>C (p.Gln383Pro)
c.1112A>C (p.Gln371Pro)
c.1091A>C (p.Gln364Pro)
c.421+30728T>G (n.421+30728T>G)
n.440+30728T>G
n.242+38123T>G
c.854A>C (p.Gln285Pro)
c.1268A>C (p.Gln423Pro)
6g.32293538G>ACA363561853TSBP1,TSBP1-AS1c.1129C>T (p.Gln377Ter)
c.1132C>T (p.Gln378Ter)
c.1108C>T (p.Gln370Ter)
c.1135C>T (p.Gln379Ter)
c.1087C>T (p.Gln363Ter)
c.1120C>T (p.Gln374Ter)
c.1189C>T (p.Gln397Ter)
c.1168C>T (p.Gln390Ter)
c.1165C>T (p.Gln389Ter)
c.1147C>T (p.Gln383Ter)
c.1111C>T (p.Gln371Ter)
c.1090C>T (p.Gln364Ter)
c.421+30729G>A (n.421+30729G>A)
n.440+30729G>A
n.242+38124G>A
c.853C>T (p.Gln285Ter)
c.1267C>T (p.Gln423Ter)
6g.32293538G>CCA363561854TSBP1,TSBP1-AS1c.1129C>G (p.Gln377Glu)
c.1132C>G (p.Gln378Glu)
c.1108C>G (p.Gln370Glu)
c.1135C>G (p.Gln379Glu)
c.1087C>G (p.Gln363Glu)
c.1120C>G (p.Gln374Glu)
c.1189C>G (p.Gln397Glu)
c.1168C>G (p.Gln390Glu)
c.1165C>G (p.Gln389Glu)
c.1147C>G (p.Gln383Glu)
c.1111C>G (p.Gln371Glu)
c.1090C>G (p.Gln364Glu)
c.421+30729G>C (n.421+30729G>C)
n.440+30729G>C
n.242+38124G>C
c.853C>G (p.Gln285Glu)
c.1267C>G (p.Gln423Glu)
6g.32293538G>TCA363561855TSBP1,TSBP1-AS1c.1129C>A (p.Gln377Lys)
c.1132C>A (p.Gln378Lys)
c.1108C>A (p.Gln370Lys)
c.1135C>A (p.Gln379Lys)
c.1087C>A (p.Gln363Lys)
c.1120C>A (p.Gln374Lys)
c.1189C>A (p.Gln397Lys)
c.1168C>A (p.Gln390Lys)
c.1165C>A (p.Gln389Lys)
c.1147C>A (p.Gln383Lys)
c.1111C>A (p.Gln371Lys)
c.1090C>A (p.Gln364Lys)
c.421+30729G>T (n.421+30729G>T)
n.440+30729G>T
n.242+38124G>T
c.853C>A (p.Gln285Lys)
c.1267C>A (p.Gln423Lys)
6g.32293539T>ACA363561856TSBP1,TSBP1-AS1c.1128A>T (p.Arg376Ser)
c.1131A>T (p.Arg377Ser)
c.1107A>T (p.Arg369Ser)
c.1134A>T (p.Arg378Ser)
c.1086A>T (p.Arg362Ser)
c.1119A>T (p.Arg373Ser)
c.1188A>T (p.Arg396Ser)
c.1167A>T (p.Arg389Ser)
c.1164A>T (p.Arg388Ser)
c.1146A>T (p.Arg382Ser)
c.1110A>T (p.Arg370Ser)
c.1089A>T (p.Arg363Ser)
c.421+30730T>A (n.421+30730T>A)
n.440+30730T>A
n.242+38125T>A
c.852A>T (p.Arg284Ser)
c.1266A>T (p.Arg422Ser)
6g.32293539T>CCA449829913TSBP1,TSBP1-AS1c.1128A>G (p.Arg376=)
c.1131A>G (p.Arg377=)
c.1107A>G (p.Arg369=)
c.1134A>G (p.Arg378=)
c.1086A>G (p.Arg362=)
c.1119A>G (p.Arg373=)
c.1188A>G (p.Arg396=)
c.1167A>G (p.Arg389=)
c.1164A>G (p.Arg388=)
c.1146A>G (p.Arg382=)
c.1110A>G (p.Arg370=)
c.1089A>G (p.Arg363=)
c.421+30730T>C (n.421+30730T>C)
n.440+30730T>C
n.242+38125T>C
c.852A>G (p.Arg284=)
c.1266A>G (p.Arg422=)
6g.32293539T>GCA363561857TSBP1,TSBP1-AS1c.1128A>C (p.Arg376Ser)
c.1131A>C (p.Arg377Ser)
c.1107A>C (p.Arg369Ser)
c.1134A>C (p.Arg378Ser)
c.1086A>C (p.Arg362Ser)
c.1119A>C (p.Arg373Ser)
c.1188A>C (p.Arg396Ser)
c.1167A>C (p.Arg389Ser)
c.1164A>C (p.Arg388Ser)
c.1146A>C (p.Arg382Ser)
c.1110A>C (p.Arg370Ser)
c.1089A>C (p.Arg363Ser)
c.421+30730T>G (n.421+30730T>G)
n.440+30730T>G
n.242+38125T>G
c.852A>C (p.Arg284Ser)
c.1266A>C (p.Arg422Ser)
6g.32293540C>ACA363561858TSBP1,TSBP1-AS1c.1127G>T (p.Arg376Ile)
c.1130G>T (p.Arg377Ile)
c.1106G>T (p.Arg369Ile)
c.1133G>T (p.Arg378Ile)
c.1085G>T (p.Arg362Ile)
c.1118G>T (p.Arg373Ile)
c.1187G>T (p.Arg396Ile)
c.1166G>T (p.Arg389Ile)
c.1163G>T (p.Arg388Ile)
c.1145G>T (p.Arg382Ile)
c.1109G>T (p.Arg370Ile)
c.1088G>T (p.Arg363Ile)
c.421+30731C>A (n.421+30731C>A)
n.440+30731C>A
n.242+38126C>A
c.851G>T (p.Arg284Ile)
c.1265G>T (p.Arg422Ile)
 dbSNP gnomAD v2 gnomAD v4
6g.32293540C=CA1619500866TSBP1,TSBP1-AS1c.1127G= (p.Arg376=)
c.1130G= (p.Arg377=)
c.1106G= (p.Arg369=)
c.1133G= (p.Arg378=)
c.1085G= (p.Arg362=)
c.1118G= (p.Arg373=)
c.1187G= (p.Arg396=)
c.1166G= (p.Arg389=)
c.1163G= (p.Arg388=)
c.1145G= (p.Arg382=)
c.1109G= (p.Arg370=)
c.1088G= (p.Arg363=)
c.421+30731C= (n.421+30731C=)
n.440+30731C=
n.242+38126C=
c.851G= (p.Arg284=)
c.1265G= (p.Arg422=)
6g.32293540C>GCA363561859TSBP1,TSBP1-AS1c.1127G>C (p.Arg376Thr)
c.1130G>C (p.Arg377Thr)
c.1106G>C (p.Arg369Thr)
c.1133G>C (p.Arg378Thr)
c.1085G>C (p.Arg362Thr)
c.1118G>C (p.Arg373Thr)
c.1187G>C (p.Arg396Thr)
c.1166G>C (p.Arg389Thr)
c.1163G>C (p.Arg388Thr)
c.1145G>C (p.Arg382Thr)
c.1109G>C (p.Arg370Thr)
c.1088G>C (p.Arg363Thr)
c.421+30731C>G (n.421+30731C>G)
n.440+30731C>G
n.242+38126C>G
c.851G>C (p.Arg284Thr)
c.1265G>C (p.Arg422Thr)
6g.32293540C>TCA363561860TSBP1,TSBP1-AS1c.1127G>A (p.Arg376Lys)
c.1130G>A (p.Arg377Lys)
c.1106G>A (p.Arg369Lys)
c.1133G>A (p.Arg378Lys)
c.1085G>A (p.Arg362Lys)
c.1118G>A (p.Arg373Lys)
c.1187G>A (p.Arg396Lys)
c.1166G>A (p.Arg389Lys)
c.1163G>A (p.Arg388Lys)
c.1145G>A (p.Arg382Lys)
c.1109G>A (p.Arg370Lys)
c.1088G>A (p.Arg363Lys)
c.421+30731C>T (n.421+30731C>T)
n.440+30731C>T
n.242+38126C>T
c.851G>A (p.Arg284Lys)
c.1265G>A (p.Arg422Lys)
6g.32293541T>ACA363561861TSBP1,TSBP1-AS1c.1126A>T (p.Arg376Ter)
c.1129A>T (p.Arg377Ter)
c.1105A>T (p.Arg369Ter)
c.1132A>T (p.Arg378Ter)
c.1084A>T (p.Arg362Ter)
c.1117A>T (p.Arg373Ter)
c.1186A>T (p.Arg396Ter)
c.1165A>T (p.Arg389Ter)
c.1162A>T (p.Arg388Ter)
c.1144A>T (p.Arg382Ter)
c.1108A>T (p.Arg370Ter)
c.1087A>T (p.Arg363Ter)
c.421+30732T>A (n.421+30732T>A)
n.440+30732T>A
n.242+38127T>A
c.850A>T (p.Arg284Ter)
c.1264A>T (p.Arg422Ter)
6g.32293541T>CCA3740522TSBP1,TSBP1-AS1c.1126A>G (p.Arg376Gly)
c.1129A>G (p.Arg377Gly)
c.1105A>G (p.Arg369Gly)
c.1132A>G (p.Arg378Gly)
c.1084A>G (p.Arg362Gly)
c.1117A>G (p.Arg373Gly)
c.1186A>G (p.Arg396Gly)
c.1165A>G (p.Arg389Gly)
c.1162A>G (p.Arg388Gly)
c.1144A>G (p.Arg382Gly)
c.1108A>G (p.Arg370Gly)
c.1087A>G (p.Arg363Gly)
c.421+30732T>C (n.421+30732T>C)
n.440+30732T>C
n.242+38127T>C
c.850A>G (p.Arg284Gly)
c.1264A>G (p.Arg422Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32293541T>GCA449829916TSBP1,TSBP1-AS1c.1126A>C (p.Arg376=)
c.1129A>C (p.Arg377=)
c.1105A>C (p.Arg369=)
c.1132A>C (p.Arg378=)
c.1084A>C (p.Arg362=)
c.1117A>C (p.Arg373=)
c.1186A>C (p.Arg396=)
c.1165A>C (p.Arg389=)
c.1162A>C (p.Arg388=)
c.1144A>C (p.Arg382=)
c.1108A>C (p.Arg370=)
c.1087A>C (p.Arg363=)
c.421+30732T>G (n.421+30732T>G)
n.440+30732T>G
n.242+38127T>G
c.850A>C (p.Arg284=)
c.1264A>C (p.Arg422=)
6g.32293541T=CA1619500867TSBP1,TSBP1-AS1c.1126A= (p.Arg376=)
c.1129A= (p.Arg377=)
c.1105A= (p.Arg369=)
c.1132A= (p.Arg378=)
c.1084A= (p.Arg362=)
c.1117A= (p.Arg373=)
c.1186A= (p.Arg396=)
c.1165A= (p.Arg389=)
c.1162A= (p.Arg388=)
c.1144A= (p.Arg382=)
c.1108A= (p.Arg370=)
c.1087A= (p.Arg363=)
c.421+30732T= (n.421+30732T=)
n.440+30732T=
n.242+38127T=
c.850A= (p.Arg284=)
c.1264A= (p.Arg422=)
6g.32293542T>ACA363561863TSBP1,TSBP1-AS1c.1125A>T (p.Arg375Ser)
c.1128A>T (p.Arg376Ser)
c.1104A>T (p.Arg368Ser)
c.1131A>T (p.Arg377Ser)
c.1083A>T (p.Arg361Ser)
c.1116A>T (p.Arg372Ser)
c.1185A>T (p.Arg395Ser)
c.1164A>T (p.Arg388Ser)
c.1161A>T (p.Arg387Ser)
c.1143A>T (p.Arg381Ser)
c.1107A>T (p.Arg369Ser)
c.1086A>T (p.Arg362Ser)
c.421+30733T>A (n.421+30733T>A)
n.440+30733T>A
n.242+38128T>A
c.849A>T (p.Arg283Ser)
c.1263A>T (p.Arg421Ser)
6g.32293542T>CCA449829917TSBP1,TSBP1-AS1c.1125A>G (p.Arg375=)
c.1128A>G (p.Arg376=)
c.1104A>G (p.Arg368=)
c.1131A>G (p.Arg377=)
c.1083A>G (p.Arg361=)
c.1116A>G (p.Arg372=)
c.1185A>G (p.Arg395=)
c.1164A>G (p.Arg388=)
c.1161A>G (p.Arg387=)
c.1143A>G (p.Arg381=)
c.1107A>G (p.Arg369=)
c.1086A>G (p.Arg362=)
c.421+30733T>C (n.421+30733T>C)
n.440+30733T>C
n.242+38128T>C
c.849A>G (p.Arg283=)
c.1263A>G (p.Arg421=)
 gnomAD v4
6g.32293542T>GCA363561862TSBP1,TSBP1-AS1c.1125A>C (p.Arg375Ser)
c.1128A>C (p.Arg376Ser)
c.1104A>C (p.Arg368Ser)
c.1131A>C (p.Arg377Ser)
c.1083A>C (p.Arg361Ser)
c.1116A>C (p.Arg372Ser)
c.1185A>C (p.Arg395Ser)
c.1164A>C (p.Arg388Ser)
c.1161A>C (p.Arg387Ser)
c.1143A>C (p.Arg381Ser)
c.1107A>C (p.Arg369Ser)
c.1086A>C (p.Arg362Ser)
c.421+30733T>G (n.421+30733T>G)
n.440+30733T>G
n.242+38128T>G
c.849A>C (p.Arg283Ser)
c.1263A>C (p.Arg421Ser)
6g.32293543C>ACA363561864TSBP1,TSBP1-AS1c.1124G>T (p.Arg375Ile)
c.1127G>T (p.Arg376Ile)
c.1103G>T (p.Arg368Ile)
c.1130G>T (p.Arg377Ile)
c.1082G>T (p.Arg361Ile)
c.1115G>T (p.Arg372Ile)
c.1184G>T (p.Arg395Ile)
c.1163G>T (p.Arg388Ile)
c.1160G>T (p.Arg387Ile)
c.1142G>T (p.Arg381Ile)
c.1106G>T (p.Arg369Ile)
c.1085G>T (p.Arg362Ile)
c.421+30734C>A (n.421+30734C>A)
n.440+30734C>A
n.242+38129C>A
c.848G>T (p.Arg283Ile)
c.1262G>T (p.Arg421Ile)
6g.32293543C=CA1619500868TSBP1,TSBP1-AS1c.1124G= (p.Arg375=)
c.1127G= (p.Arg376=)
c.1103G= (p.Arg368=)
c.1130G= (p.Arg377=)
c.1082G= (p.Arg361=)
c.1115G= (p.Arg372=)
c.1184G= (p.Arg395=)
c.1163G= (p.Arg388=)
c.1160G= (p.Arg387=)
c.1142G= (p.Arg381=)
c.1106G= (p.Arg369=)
c.1085G= (p.Arg362=)
c.421+30734C= (n.421+30734C=)
n.440+30734C=
n.242+38129C=
c.848G= (p.Arg283=)
c.1262G= (p.Arg421=)
6g.32293543C>GCA363561865TSBP1,TSBP1-AS1c.1124G>C (p.Arg375Thr)
c.1127G>C (p.Arg376Thr)
c.1103G>C (p.Arg368Thr)
c.1130G>C (p.Arg377Thr)
c.1082G>C (p.Arg361Thr)
c.1115G>C (p.Arg372Thr)
c.1184G>C (p.Arg395Thr)
c.1163G>C (p.Arg388Thr)
c.1160G>C (p.Arg387Thr)
c.1142G>C (p.Arg381Thr)
c.1106G>C (p.Arg369Thr)
c.1085G>C (p.Arg362Thr)
c.421+30734C>G (n.421+30734C>G)
n.440+30734C>G
n.242+38129C>G
c.848G>C (p.Arg283Thr)
c.1262G>C (p.Arg421Thr)
 dbSNP
6g.32293543C>TCA363561866TSBP1,TSBP1-AS1c.1124G>A (p.Arg375Lys)
c.1127G>A (p.Arg376Lys)
c.1103G>A (p.Arg368Lys)
c.1130G>A (p.Arg377Lys)
c.1082G>A (p.Arg361Lys)
c.1115G>A (p.Arg372Lys)
c.1184G>A (p.Arg395Lys)
c.1163G>A (p.Arg388Lys)
c.1160G>A (p.Arg387Lys)
c.1142G>A (p.Arg381Lys)
c.1106G>A (p.Arg369Lys)
c.1085G>A (p.Arg362Lys)
c.421+30734C>T (n.421+30734C>T)
n.440+30734C>T
n.242+38129C>T
c.848G>A (p.Arg283Lys)
c.1262G>A (p.Arg421Lys)
6g.32293544T>ACA363561867TSBP1,TSBP1-AS1c.1123A>T (p.Arg375Ter)
c.1126A>T (p.Arg376Ter)
c.1102A>T (p.Arg368Ter)
c.1129A>T (p.Arg377Ter)
c.1081A>T (p.Arg361Ter)
c.1114A>T (p.Arg372Ter)
c.1183A>T (p.Arg395Ter)
c.1162A>T (p.Arg388Ter)
c.1159A>T (p.Arg387Ter)
c.1141A>T (p.Arg381Ter)
c.1105A>T (p.Arg369Ter)
c.1084A>T (p.Arg362Ter)
c.421+30735T>A (n.421+30735T>A)
n.440+30735T>A
n.242+38130T>A
c.847A>T (p.Arg283Ter)
c.1261A>T (p.Arg421Ter)
6g.32293544T>CCA363561868TSBP1,TSBP1-AS1c.1123A>G (p.Arg375Gly)
c.1126A>G (p.Arg376Gly)
c.1102A>G (p.Arg368Gly)
c.1129A>G (p.Arg377Gly)
c.1081A>G (p.Arg361Gly)
c.1114A>G (p.Arg372Gly)
c.1183A>G (p.Arg395Gly)
c.1162A>G (p.Arg388Gly)
c.1159A>G (p.Arg387Gly)
c.1141A>G (p.Arg381Gly)
c.1105A>G (p.Arg369Gly)
c.1084A>G (p.Arg362Gly)
c.421+30735T>C (n.421+30735T>C)
n.440+30735T>C
n.242+38130T>C
c.847A>G (p.Arg283Gly)
c.1261A>G (p.Arg421Gly)
6g.32293544T>GCA449829922TSBP1,TSBP1-AS1c.1123A>C (p.Arg375=)
c.1126A>C (p.Arg376=)
c.1102A>C (p.Arg368=)
c.1129A>C (p.Arg377=)
c.1081A>C (p.Arg361=)
c.1114A>C (p.Arg372=)
c.1183A>C (p.Arg395=)
c.1162A>C (p.Arg388=)
c.1159A>C (p.Arg387=)
c.1141A>C (p.Arg381=)
c.1105A>C (p.Arg369=)
c.1084A>C (p.Arg362=)
c.421+30735T>G (n.421+30735T>G)
n.440+30735T>G
n.242+38130T>G
c.847A>C (p.Arg283=)
c.1261A>C (p.Arg421=)
 gnomAD v4
6g.32293545T>ACA449829924TSBP1,TSBP1-AS1c.1122A>T (p.Pro374=)
c.1125A>T (p.Pro375=)
c.1101A>T (p.Pro367=)
c.1128A>T (p.Pro376=)
c.1080A>T (p.Pro360=)
c.1113A>T (p.Pro371=)
c.1182A>T (p.Pro394=)
c.1161A>T (p.Pro387=)
c.1158A>T (p.Pro386=)
c.1140A>T (p.Pro380=)
c.1104A>T (p.Pro368=)
c.1083A>T (p.Pro361=)
c.421+30736T>A (n.421+30736T>A)
n.440+30736T>A
n.242+38131T>A
c.846A>T (p.Pro282=)
c.1260A>T (p.Pro420=)
6g.32293545T>CCA449829926TSBP1,TSBP1-AS1c.1122A>G (p.Pro374=)
c.1125A>G (p.Pro375=)
c.1101A>G (p.Pro367=)
c.1128A>G (p.Pro376=)
c.1080A>G (p.Pro360=)
c.1113A>G (p.Pro371=)
c.1182A>G (p.Pro394=)
c.1161A>G (p.Pro387=)
c.1158A>G (p.Pro386=)
c.1140A>G (p.Pro380=)
c.1104A>G (p.Pro368=)
c.1083A>G (p.Pro361=)
c.421+30736T>C (n.421+30736T>C)
n.440+30736T>C
n.242+38131T>C
c.846A>G (p.Pro282=)
c.1260A>G (p.Pro420=)
6g.32293545T>GCA449829927TSBP1,TSBP1-AS1c.1122A>C (p.Pro374=)
c.1125A>C (p.Pro375=)
c.1101A>C (p.Pro367=)
c.1128A>C (p.Pro376=)
c.1080A>C (p.Pro360=)
c.1113A>C (p.Pro371=)
c.1182A>C (p.Pro394=)
c.1161A>C (p.Pro387=)
c.1158A>C (p.Pro386=)
c.1140A>C (p.Pro380=)
c.1104A>C (p.Pro368=)
c.1083A>C (p.Pro361=)
c.421+30736T>G (n.421+30736T>G)
n.440+30736T>G
n.242+38131T>G
c.846A>C (p.Pro282=)
c.1260A>C (p.Pro420=)
6g.32293546G>ACA136929654TSBP1,TSBP1-AS1c.1121C>T (p.Pro374Leu)
c.1124C>T (p.Pro375Leu)
c.1100C>T (p.Pro367Leu)
c.1127C>T (p.Pro376Leu)
c.1079C>T (p.Pro360Leu)
c.1112C>T (p.Pro371Leu)
c.1181C>T (p.Pro394Leu)
c.1160C>T (p.Pro387Leu)
c.1157C>T (p.Pro386Leu)
c.1139C>T (p.Pro380Leu)
c.1103C>T (p.Pro368Leu)
c.1082C>T (p.Pro361Leu)
c.421+30737G>A (n.421+30737G>A)
n.440+30737G>A
n.242+38132G>A
c.845C>T (p.Pro282Leu)
c.1259C>T (p.Pro420Leu)
 dbSNP
6g.32293546G>CCA363561869TSBP1,TSBP1-AS1c.1121C>G (p.Pro374Arg)
c.1124C>G (p.Pro375Arg)
c.1100C>G (p.Pro367Arg)
c.1127C>G (p.Pro376Arg)
c.1079C>G (p.Pro360Arg)
c.1112C>G (p.Pro371Arg)
c.1181C>G (p.Pro394Arg)
c.1160C>G (p.Pro387Arg)
c.1157C>G (p.Pro386Arg)
c.1139C>G (p.Pro380Arg)
c.1103C>G (p.Pro368Arg)
c.1082C>G (p.Pro361Arg)
c.421+30737G>C (n.421+30737G>C)
n.440+30737G>C
n.242+38132G>C
c.845C>G (p.Pro282Arg)
c.1259C>G (p.Pro420Arg)
6g.32293546G=CA1619500869TSBP1,TSBP1-AS1c.1121C= (p.Pro374=)
c.1124C= (p.Pro375=)
c.1100C= (p.Pro367=)
c.1127C= (p.Pro376=)
c.1079C= (p.Pro360=)
c.1112C= (p.Pro371=)
c.1181C= (p.Pro394=)
c.1160C= (p.Pro387=)
c.1157C= (p.Pro386=)
c.1139C= (p.Pro380=)
c.1103C= (p.Pro368=)
c.1082C= (p.Pro361=)
c.421+30737G= (n.421+30737G=)
n.440+30737G=
n.242+38132G=
c.845C= (p.Pro282=)
c.1259C= (p.Pro420=)
6g.32293546G>TCA363561870TSBP1,TSBP1-AS1c.1121C>A (p.Pro374Gln)
c.1124C>A (p.Pro375Gln)
c.1100C>A (p.Pro367Gln)
c.1127C>A (p.Pro376Gln)
c.1079C>A (p.Pro360Gln)
c.1112C>A (p.Pro371Gln)
c.1181C>A (p.Pro394Gln)
c.1160C>A (p.Pro387Gln)
c.1157C>A (p.Pro386Gln)
c.1139C>A (p.Pro380Gln)
c.1103C>A (p.Pro368Gln)
c.1082C>A (p.Pro361Gln)
c.421+30737G>T (n.421+30737G>T)
n.440+30737G>T
n.242+38132G>T
c.845C>A (p.Pro282Gln)
c.1259C>A (p.Pro420Gln)
6g.32293547G>ACA363561871TSBP1,TSBP1-AS1c.1120C>T (p.Pro374Ser)
c.1123C>T (p.Pro375Ser)
c.1099C>T (p.Pro367Ser)
c.1126C>T (p.Pro376Ser)
c.1078C>T (p.Pro360Ser)
c.1111C>T (p.Pro371Ser)
c.1180C>T (p.Pro394Ser)
c.1159C>T (p.Pro387Ser)
c.1156C>T (p.Pro386Ser)
c.1138C>T (p.Pro380Ser)
c.1102C>T (p.Pro368Ser)
c.1081C>T (p.Pro361Ser)
c.421+30738G>A (n.421+30738G>A)
n.440+30738G>A
n.242+38133G>A
c.844C>T (p.Pro282Ser)
c.1258C>T (p.Pro420Ser)
6g.32293547G>CCA363561872TSBP1,TSBP1-AS1c.1120C>G (p.Pro374Ala)
c.1123C>G (p.Pro375Ala)
c.1099C>G (p.Pro367Ala)
c.1126C>G (p.Pro376Ala)
c.1078C>G (p.Pro360Ala)
c.1111C>G (p.Pro371Ala)
c.1180C>G (p.Pro394Ala)
c.1159C>G (p.Pro387Ala)
c.1156C>G (p.Pro386Ala)
c.1138C>G (p.Pro380Ala)
c.1102C>G (p.Pro368Ala)
c.1081C>G (p.Pro361Ala)
c.421+30738G>C (n.421+30738G>C)
n.440+30738G>C
n.242+38133G>C
c.844C>G (p.Pro282Ala)
c.1258C>G (p.Pro420Ala)
6g.32293547G>TCA363561873TSBP1,TSBP1-AS1c.1120C>A (p.Pro374Thr)
c.1123C>A (p.Pro375Thr)
c.1099C>A (p.Pro367Thr)
c.1126C>A (p.Pro376Thr)
c.1078C>A (p.Pro360Thr)
c.1111C>A (p.Pro371Thr)
c.1180C>A (p.Pro394Thr)
c.1159C>A (p.Pro387Thr)
c.1156C>A (p.Pro386Thr)
c.1138C>A (p.Pro380Thr)
c.1102C>A (p.Pro368Thr)
c.1081C>A (p.Pro361Thr)
c.421+30738G>T (n.421+30738G>T)
n.440+30738G>T
n.242+38133G>T
c.844C>A (p.Pro282Thr)
c.1258C>A (p.Pro420Thr)
 gnomAD v4
6g.32293548C>ACA449829932TSBP1,TSBP1-AS1c.1119G>T (p.Val373=)
c.1122G>T (p.Val374=)
c.1098G>T (p.Val366=)
c.1125G>T (p.Val375=)
c.1077G>T (p.Val359=)
c.1110G>T (p.Val370=)
c.1179G>T (p.Val393=)
c.1158G>T (p.Val386=)
c.1155G>T (p.Val385=)
c.1137G>T (p.Val379=)
c.1101G>T (p.Val367=)
c.1080G>T (p.Val360=)
c.421+30739C>A (n.421+30739C>A)
n.440+30739C>A
n.242+38134C>A
c.843G>T (p.Val281=)
c.1257G>T (p.Val419=)
6g.32293548C>GCA449829933TSBP1,TSBP1-AS1c.1119G>C (p.Val373=)
c.1122G>C (p.Val374=)
c.1098G>C (p.Val366=)
c.1125G>C (p.Val375=)
c.1077G>C (p.Val359=)
c.1110G>C (p.Val370=)
c.1179G>C (p.Val393=)
c.1158G>C (p.Val386=)
c.1155G>C (p.Val385=)
c.1137G>C (p.Val379=)
c.1101G>C (p.Val367=)
c.1080G>C (p.Val360=)
c.421+30739C>G (n.421+30739C>G)
n.440+30739C>G
n.242+38134C>G
c.843G>C (p.Val281=)
c.1257G>C (p.Val419=)
6g.32293548C>TCA449829934TSBP1,TSBP1-AS1c.1119G>A (p.Val373=)
c.1122G>A (p.Val374=)
c.1098G>A (p.Val366=)
c.1125G>A (p.Val375=)
c.1077G>A (p.Val359=)
c.1110G>A (p.Val370=)
c.1179G>A (p.Val393=)
c.1158G>A (p.Val386=)
c.1155G>A (p.Val385=)
c.1137G>A (p.Val379=)
c.1101G>A (p.Val367=)
c.1080G>A (p.Val360=)
c.421+30739C>T (n.421+30739C>T)
n.440+30739C>T
n.242+38134C>T
c.843G>A (p.Val281=)
c.1257G>A (p.Val419=)
 gnomAD v4
6g.32293549A>CCA363561875TSBP1,TSBP1-AS1c.1118T>G (p.Val373Gly)
c.1121T>G (p.Val374Gly)
c.1097T>G (p.Val366Gly)
c.1124T>G (p.Val375Gly)
c.1076T>G (p.Val359Gly)
c.1109T>G (p.Val370Gly)
c.1178T>G (p.Val393Gly)
c.1157T>G (p.Val386Gly)
c.1154T>G (p.Val385Gly)
c.1136T>G (p.Val379Gly)
c.1100T>G (p.Val367Gly)
c.1079T>G (p.Val360Gly)
c.421+30740A>C (n.421+30740A>C)
n.440+30740A>C
n.242+38135A>C
c.842T>G (p.Val281Gly)
c.1256T>G (p.Val419Gly)
6g.32293549A>GCA363561876TSBP1,TSBP1-AS1c.1118T>C (p.Val373Ala)
c.1121T>C (p.Val374Ala)
c.1097T>C (p.Val366Ala)
c.1124T>C (p.Val375Ala)
c.1076T>C (p.Val359Ala)
c.1109T>C (p.Val370Ala)
c.1178T>C (p.Val393Ala)
c.1157T>C (p.Val386Ala)
c.1154T>C (p.Val385Ala)
c.1136T>C (p.Val379Ala)
c.1100T>C (p.Val367Ala)
c.1079T>C (p.Val360Ala)
c.421+30740A>G (n.421+30740A>G)
n.440+30740A>G
n.242+38135A>G
c.842T>C (p.Val281Ala)
c.1256T>C (p.Val419Ala)
6g.32293549A>TCA363561874TSBP1,TSBP1-AS1c.1118T>A (p.Val373Glu)
c.1121T>A (p.Val374Glu)
c.1097T>A (p.Val366Glu)
c.1124T>A (p.Val375Glu)
c.1076T>A (p.Val359Glu)
c.1109T>A (p.Val370Glu)
c.1178T>A (p.Val393Glu)
c.1157T>A (p.Val386Glu)
c.1154T>A (p.Val385Glu)
c.1136T>A (p.Val379Glu)
c.1100T>A (p.Val367Glu)
c.1079T>A (p.Val360Glu)
c.421+30740A>T (n.421+30740A>T)
n.440+30740A>T
n.242+38135A>T
c.842T>A (p.Val281Glu)
c.1256T>A (p.Val419Glu)
6g.32293550C>ACA363561877TSBP1,TSBP1-AS1c.1117G>T (p.Val373Leu)
c.1120G>T (p.Val374Leu)
c.1096G>T (p.Val366Leu)
c.1123G>T (p.Val375Leu)
c.1075G>T (p.Val359Leu)
c.1108G>T (p.Val370Leu)
c.1177G>T (p.Val393Leu)
c.1156G>T (p.Val386Leu)
c.1153G>T (p.Val385Leu)
c.1135G>T (p.Val379Leu)
c.1099G>T (p.Val367Leu)
c.1078G>T (p.Val360Leu)
c.421+30741C>A (n.421+30741C>A)
n.440+30741C>A
n.242+38136C>A
c.841G>T (p.Val281Leu)
c.1255G>T (p.Val419Leu)
6g.32293550C>GCA363561878TSBP1,TSBP1-AS1c.1117G>C (p.Val373Leu)
c.1120G>C (p.Val374Leu)
c.1096G>C (p.Val366Leu)
c.1123G>C (p.Val375Leu)
c.1075G>C (p.Val359Leu)
c.1108G>C (p.Val370Leu)
c.1177G>C (p.Val393Leu)
c.1156G>C (p.Val386Leu)
c.1153G>C (p.Val385Leu)
c.1135G>C (p.Val379Leu)
c.1099G>C (p.Val367Leu)
c.1078G>C (p.Val360Leu)
c.421+30741C>G (n.421+30741C>G)
n.440+30741C>G
n.242+38136C>G
c.841G>C (p.Val281Leu)
c.1255G>C (p.Val419Leu)
6g.32293550C>TCA363561879TSBP1,TSBP1-AS1c.1117G>A (p.Val373Met)
c.1120G>A (p.Val374Met)
c.1096G>A (p.Val366Met)
c.1123G>A (p.Val375Met)
c.1075G>A (p.Val359Met)
c.1108G>A (p.Val370Met)
c.1177G>A (p.Val393Met)
c.1156G>A (p.Val386Met)
c.1153G>A (p.Val385Met)
c.1135G>A (p.Val379Met)
c.1099G>A (p.Val367Met)
c.1078G>A (p.Val360Met)
c.421+30741C>T (n.421+30741C>T)
n.440+30741C>T
n.242+38136C>T
c.841G>A (p.Val281Met)
c.1255G>A (p.Val419Met)
 dbSNP gnomAD v4
6g.32293551A>CCA449829946TSBP1,TSBP1-AS1c.1116T>G (p.Gly372=)
c.1119T>G (p.Gly373=)
c.1095T>G (p.Gly365=)
c.1122T>G (p.Gly374=)
c.1074T>G (p.Gly358=)
c.1107T>G (p.Gly369=)
c.1176T>G (p.Gly392=)
c.1155T>G (p.Gly385=)
c.1152T>G (p.Gly384=)
c.1134T>G (p.Gly378=)
c.1098T>G (p.Gly366=)
c.1077T>G (p.Gly359=)
c.421+30742A>C (n.421+30742A>C)
n.440+30742A>C
n.242+38137A>C
c.840T>G (p.Gly280=)
c.1254T>G (p.Gly418=)
6g.32293551A>GCA449829947TSBP1,TSBP1-AS1c.1116T>C (p.Gly372=)
c.1119T>C (p.Gly373=)
c.1095T>C (p.Gly365=)
c.1122T>C (p.Gly374=)
c.1074T>C (p.Gly358=)
c.1107T>C (p.Gly369=)
c.1176T>C (p.Gly392=)
c.1155T>C (p.Gly385=)
c.1152T>C (p.Gly384=)
c.1134T>C (p.Gly378=)
c.1098T>C (p.Gly366=)
c.1077T>C (p.Gly359=)
c.421+30742A>G (n.421+30742A>G)
n.440+30742A>G
n.242+38137A>G
c.840T>C (p.Gly280=)
c.1254T>C (p.Gly418=)
6g.32293551A>TCA449829948TSBP1,TSBP1-AS1c.1116T>A (p.Gly372=)
c.1119T>A (p.Gly373=)
c.1095T>A (p.Gly365=)
c.1122T>A (p.Gly374=)
c.1074T>A (p.Gly358=)
c.1107T>A (p.Gly369=)
c.1176T>A (p.Gly392=)
c.1155T>A (p.Gly385=)
c.1152T>A (p.Gly384=)
c.1134T>A (p.Gly378=)
c.1098T>A (p.Gly366=)
c.1077T>A (p.Gly359=)
c.421+30742A>T (n.421+30742A>T)
n.440+30742A>T
n.242+38137A>T
c.840T>A (p.Gly280=)
c.1254T>A (p.Gly418=)
6g.32293552C>ACA363561880TSBP1,TSBP1-AS1c.1115G>T (p.Gly372Val)
c.1118G>T (p.Gly373Val)
c.1094G>T (p.Gly365Val)
c.1121G>T (p.Gly374Val)
c.1073G>T (p.Gly358Val)
c.1106G>T (p.Gly369Val)
c.1175G>T (p.Gly392Val)
c.1154G>T (p.Gly385Val)
c.1151G>T (p.Gly384Val)
c.1133G>T (p.Gly378Val)
c.1097G>T (p.Gly366Val)
c.1076G>T (p.Gly359Val)
c.421+30743C>A (n.421+30743C>A)
n.440+30743C>A
n.242+38138C>A
c.839G>T (p.Gly280Val)
c.1253G>T (p.Gly418Val)
6g.32293552C=CA1619500870TSBP1,TSBP1-AS1c.1115G= (p.Gly372=)
c.1118G= (p.Gly373=)
c.1094G= (p.Gly365=)
c.1121G= (p.Gly374=)
c.1073G= (p.Gly358=)
c.1106G= (p.Gly369=)
c.1175G= (p.Gly392=)
c.1154G= (p.Gly385=)
c.1151G= (p.Gly384=)
c.1133G= (p.Gly378=)
c.1097G= (p.Gly366=)
c.1076G= (p.Gly359=)
c.421+30743C= (n.421+30743C=)
n.440+30743C=
n.242+38138C=
c.839G= (p.Gly280=)
c.1253G= (p.Gly418=)
6g.32293552C>GCA363561881TSBP1,TSBP1-AS1c.1115G>C (p.Gly372Ala)
c.1118G>C (p.Gly373Ala)
c.1094G>C (p.Gly365Ala)
c.1121G>C (p.Gly374Ala)
c.1073G>C (p.Gly358Ala)
c.1106G>C (p.Gly369Ala)
c.1175G>C (p.Gly392Ala)
c.1154G>C (p.Gly385Ala)
c.1151G>C (p.Gly384Ala)
c.1133G>C (p.Gly378Ala)
c.1097G>C (p.Gly366Ala)
c.1076G>C (p.Gly359Ala)
c.421+30743C>G (n.421+30743C>G)
n.440+30743C>G
n.242+38138C>G
c.839G>C (p.Gly280Ala)
c.1253G>C (p.Gly418Ala)
6g.32293552C>TCA3740523TSBP1,TSBP1-AS1c.1115G>A (p.Gly372Asp)
c.1118G>A (p.Gly373Asp)
c.1094G>A (p.Gly365Asp)
c.1121G>A (p.Gly374Asp)
c.1073G>A (p.Gly358Asp)
c.1106G>A (p.Gly369Asp)
c.1175G>A (p.Gly392Asp)
c.1154G>A (p.Gly385Asp)
c.1151G>A (p.Gly384Asp)
c.1133G>A (p.Gly378Asp)
c.1097G>A (p.Gly366Asp)
c.1076G>A (p.Gly359Asp)
c.421+30743C>T (n.421+30743C>T)
n.440+30743C>T
n.242+38138C>T
c.839G>A (p.Gly280Asp)
c.1253G>A (p.Gly418Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293554delCA2678139204TSBP1,TSBP1-AS1c.1115del (p.Gly372ValfsTer10)
c.1118del (p.Gly373ValfsTer10)
c.1094del (p.Gly365ValfsTer10)
c.1121del (p.Gly374ValfsTer10)
c.1073del (p.Gly358ValfsTer10)
c.1106del (p.Gly369ValfsTer10)
c.1175del (p.Gly392ValfsTer10)
c.1154del (p.Gly385ValfsTer10)
c.1151del (p.Gly384ValfsTer10)
c.1133del (p.Gly378ValfsTer10)
c.1097del (p.Gly366ValfsTer10)
c.1076del (p.Gly359ValfsTer10)
c.421+30745del (n.421+30745del)
n.440+30745del
n.242+38140del
c.839del (p.Gly280ValfsTer10)
c.1253del (p.Gly418ValfsTer10)
 gnomAD v4

Number of alleles fetched