Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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=)

Number of alleles fetched