Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.32293378T>ACA363561498TSBP1,TSBP1-AS1c.1289A>T (p.Glu430Val)
c.1292A>T (p.Glu431Val)
c.1268A>T (p.Glu423Val)
c.1295A>T (p.Glu432Val)
c.1247A>T (p.Glu416Val)
c.1280A>T (p.Glu427Val)
c.1349A>T (p.Glu450Val)
c.1328A>T (p.Glu443Val)
c.1325A>T (p.Glu442Val)
c.1307A>T (p.Glu436Val)
c.1271A>T (p.Glu424Val)
c.1250A>T (p.Glu417Val)
c.421+30569T>A (n.421+30569T>A)
n.440+30569T>A
n.242+37964T>A
c.1013A>T (p.Glu338Val)
c.1427A>T (p.Glu476Val)
6g.32293378T>CCA363561499TSBP1,TSBP1-AS1c.1289A>G (p.Glu430Gly)
c.1292A>G (p.Glu431Gly)
c.1268A>G (p.Glu423Gly)
c.1295A>G (p.Glu432Gly)
c.1247A>G (p.Glu416Gly)
c.1280A>G (p.Glu427Gly)
c.1349A>G (p.Glu450Gly)
c.1328A>G (p.Glu443Gly)
c.1325A>G (p.Glu442Gly)
c.1307A>G (p.Glu436Gly)
c.1271A>G (p.Glu424Gly)
c.1250A>G (p.Glu417Gly)
c.421+30569T>C (n.421+30569T>C)
n.440+30569T>C
n.242+37964T>C
c.1013A>G (p.Glu338Gly)
c.1427A>G (p.Glu476Gly)
6g.32293378T>GCA363561500TSBP1,TSBP1-AS1c.1289A>C (p.Glu430Ala)
c.1292A>C (p.Glu431Ala)
c.1268A>C (p.Glu423Ala)
c.1295A>C (p.Glu432Ala)
c.1247A>C (p.Glu416Ala)
c.1280A>C (p.Glu427Ala)
c.1349A>C (p.Glu450Ala)
c.1328A>C (p.Glu443Ala)
c.1325A>C (p.Glu442Ala)
c.1307A>C (p.Glu436Ala)
c.1271A>C (p.Glu424Ala)
c.1250A>C (p.Glu417Ala)
c.421+30569T>G (n.421+30569T>G)
n.440+30569T>G
n.242+37964T>G
c.1013A>C (p.Glu338Ala)
c.1427A>C (p.Glu476Ala)
6g.32293378_32293418delCA2678139197TSBP1,TSBP1-AS1c.1249_1289del (p.Lys417GlyfsTer15)
c.1252_1292del (p.Lys418GlyfsTer15)
c.1228_1268del (p.Lys410GlyfsTer15)
c.1255_1295del (p.Lys419GlyfsTer15)
c.1207_1247del (p.Lys403GlyfsTer15)
c.1240_1280del (p.Lys414GlyfsTer15)
c.1309_1349del (p.Lys437GlyfsTer15)
c.1288_1328del (p.Lys430GlyfsTer15)
c.1285_1325del (p.Lys429GlyfsTer15)
c.1267_1307del (p.Lys423GlyfsTer15)
c.1231_1271del (p.Lys411GlyfsTer15)
c.1210_1250del (p.Lys404GlyfsTer15)
c.421+30569_421+30609del (n.421+30569_421+30609del)
n.440+30569_440+30609del
n.242+37964_242+38004del
c.973_1013del (p.Lys325GlyfsTer15)
c.1387_1427del (p.Lys463GlyfsTer15)
 gnomAD v4
6g.32293379C>ACA363561501TSBP1,TSBP1-AS1c.1288G>T (p.Glu430Ter)
c.1291G>T (p.Glu431Ter)
c.1267G>T (p.Glu423Ter)
c.1294G>T (p.Glu432Ter)
c.1246G>T (p.Glu416Ter)
c.1279G>T (p.Glu427Ter)
c.1348G>T (p.Glu450Ter)
c.1327G>T (p.Glu443Ter)
c.1324G>T (p.Glu442Ter)
c.1306G>T (p.Glu436Ter)
c.1270G>T (p.Glu424Ter)
c.1249G>T (p.Glu417Ter)
c.421+30570C>A (n.421+30570C>A)
n.440+30570C>A
n.242+37965C>A
c.1012G>T (p.Glu338Ter)
c.1426G>T (p.Glu476Ter)
6g.32293379C>GCA363561502TSBP1,TSBP1-AS1c.1288G>C (p.Glu430Gln)
c.1291G>C (p.Glu431Gln)
c.1267G>C (p.Glu423Gln)
c.1294G>C (p.Glu432Gln)
c.1246G>C (p.Glu416Gln)
c.1279G>C (p.Glu427Gln)
c.1348G>C (p.Glu450Gln)
c.1327G>C (p.Glu443Gln)
c.1324G>C (p.Glu442Gln)
c.1306G>C (p.Glu436Gln)
c.1270G>C (p.Glu424Gln)
c.1249G>C (p.Glu417Gln)
c.421+30570C>G (n.421+30570C>G)
n.440+30570C>G
n.242+37965C>G
c.1012G>C (p.Glu338Gln)
c.1426G>C (p.Glu476Gln)
6g.32293379C>TCA363561503TSBP1,TSBP1-AS1c.1288G>A (p.Glu430Lys)
c.1291G>A (p.Glu431Lys)
c.1267G>A (p.Glu423Lys)
c.1294G>A (p.Glu432Lys)
c.1246G>A (p.Glu416Lys)
c.1279G>A (p.Glu427Lys)
c.1348G>A (p.Glu450Lys)
c.1327G>A (p.Glu443Lys)
c.1324G>A (p.Glu442Lys)
c.1306G>A (p.Glu436Lys)
c.1270G>A (p.Glu424Lys)
c.1249G>A (p.Glu417Lys)
c.421+30570C>T (n.421+30570C>T)
n.440+30570C>T
n.242+37965C>T
c.1012G>A (p.Glu338Lys)
c.1426G>A (p.Glu476Lys)
6g.32293380A>CCA449829432TSBP1,TSBP1-AS1c.1287T>G (p.Thr429=)
c.1290T>G (p.Thr430=)
c.1266T>G (p.Thr422=)
c.1293T>G (p.Thr431=)
c.1245T>G (p.Thr415=)
c.1278T>G (p.Thr426=)
c.1347T>G (p.Thr449=)
c.1326T>G (p.Thr442=)
c.1323T>G (p.Thr441=)
c.1305T>G (p.Thr435=)
c.1269T>G (p.Thr423=)
c.1248T>G (p.Thr416=)
c.421+30571A>C (n.421+30571A>C)
n.440+30571A>C
n.242+37966A>C
c.1011T>G (p.Thr337=)
c.1425T>G (p.Thr475=)
6g.32293380A>GCA449829433TSBP1,TSBP1-AS1c.1287T>C (p.Thr429=)
c.1290T>C (p.Thr430=)
c.1266T>C (p.Thr422=)
c.1293T>C (p.Thr431=)
c.1245T>C (p.Thr415=)
c.1278T>C (p.Thr426=)
c.1347T>C (p.Thr449=)
c.1326T>C (p.Thr442=)
c.1323T>C (p.Thr441=)
c.1305T>C (p.Thr435=)
c.1269T>C (p.Thr423=)
c.1248T>C (p.Thr416=)
c.421+30571A>G (n.421+30571A>G)
n.440+30571A>G
n.242+37966A>G
c.1011T>C (p.Thr337=)
c.1425T>C (p.Thr475=)
6g.32293380A>TCA449829436TSBP1,TSBP1-AS1c.1287T>A (p.Thr429=)
c.1290T>A (p.Thr430=)
c.1266T>A (p.Thr422=)
c.1293T>A (p.Thr431=)
c.1245T>A (p.Thr415=)
c.1278T>A (p.Thr426=)
c.1347T>A (p.Thr449=)
c.1326T>A (p.Thr442=)
c.1323T>A (p.Thr441=)
c.1305T>A (p.Thr435=)
c.1269T>A (p.Thr423=)
c.1248T>A (p.Thr416=)
c.421+30571A>T (n.421+30571A>T)
n.440+30571A>T
n.242+37966A>T
c.1011T>A (p.Thr337=)
c.1425T>A (p.Thr475=)
6g.32293381G>ACA363561504TSBP1,TSBP1-AS1c.1286C>T (p.Thr429Ile)
c.1289C>T (p.Thr430Ile)
c.1265C>T (p.Thr422Ile)
c.1292C>T (p.Thr431Ile)
c.1244C>T (p.Thr415Ile)
c.1277C>T (p.Thr426Ile)
c.1346C>T (p.Thr449Ile)
c.1325C>T (p.Thr442Ile)
c.1322C>T (p.Thr441Ile)
c.1304C>T (p.Thr435Ile)
c.1268C>T (p.Thr423Ile)
c.1247C>T (p.Thr416Ile)
c.421+30572G>A (n.421+30572G>A)
n.440+30572G>A
n.242+37967G>A
c.1010C>T (p.Thr337Ile)
c.1424C>T (p.Thr475Ile)
6g.32293381G>CCA3740500TSBP1,TSBP1-AS1c.1286C>G (p.Thr429Ser)
c.1289C>G (p.Thr430Ser)
c.1265C>G (p.Thr422Ser)
c.1292C>G (p.Thr431Ser)
c.1244C>G (p.Thr415Ser)
c.1277C>G (p.Thr426Ser)
c.1346C>G (p.Thr449Ser)
c.1325C>G (p.Thr442Ser)
c.1322C>G (p.Thr441Ser)
c.1304C>G (p.Thr435Ser)
c.1268C>G (p.Thr423Ser)
c.1247C>G (p.Thr416Ser)
c.421+30572G>C (n.421+30572G>C)
n.440+30572G>C
n.242+37967G>C
c.1010C>G (p.Thr337Ser)
c.1424C>G (p.Thr475Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293381G=CA1619500810TSBP1,TSBP1-AS1c.1286C= (p.Thr429=)
c.1289C= (p.Thr430=)
c.1265C= (p.Thr422=)
c.1292C= (p.Thr431=)
c.1244C= (p.Thr415=)
c.1277C= (p.Thr426=)
c.1346C= (p.Thr449=)
c.1325C= (p.Thr442=)
c.1322C= (p.Thr441=)
c.1304C= (p.Thr435=)
c.1268C= (p.Thr423=)
c.1247C= (p.Thr416=)
c.421+30572G= (n.421+30572G=)
n.440+30572G=
n.242+37967G=
c.1010C= (p.Thr337=)
c.1424C= (p.Thr475=)
6g.32293381G>TCA363561505TSBP1,TSBP1-AS1c.1286C>A (p.Thr429Asn)
c.1289C>A (p.Thr430Asn)
c.1265C>A (p.Thr422Asn)
c.1292C>A (p.Thr431Asn)
c.1244C>A (p.Thr415Asn)
c.1277C>A (p.Thr426Asn)
c.1346C>A (p.Thr449Asn)
c.1325C>A (p.Thr442Asn)
c.1322C>A (p.Thr441Asn)
c.1304C>A (p.Thr435Asn)
c.1268C>A (p.Thr423Asn)
c.1247C>A (p.Thr416Asn)
c.421+30572G>T (n.421+30572G>T)
n.440+30572G>T
n.242+37967G>T
c.1010C>A (p.Thr337Asn)
c.1424C>A (p.Thr475Asn)
 COSMIC
6g.32293382T>ACA363561506TSBP1,TSBP1-AS1c.1285A>T (p.Thr429Ser)
c.1288A>T (p.Thr430Ser)
c.1264A>T (p.Thr422Ser)
c.1291A>T (p.Thr431Ser)
c.1243A>T (p.Thr415Ser)
c.1276A>T (p.Thr426Ser)
c.1345A>T (p.Thr449Ser)
c.1324A>T (p.Thr442Ser)
c.1321A>T (p.Thr441Ser)
c.1303A>T (p.Thr435Ser)
c.1267A>T (p.Thr423Ser)
c.1246A>T (p.Thr416Ser)
c.421+30573T>A (n.421+30573T>A)
n.440+30573T>A
n.242+37968T>A
c.1009A>T (p.Thr337Ser)
c.1423A>T (p.Thr475Ser)
6g.32293382T>CCA363561507TSBP1,TSBP1-AS1c.1285A>G (p.Thr429Ala)
c.1288A>G (p.Thr430Ala)
c.1264A>G (p.Thr422Ala)
c.1291A>G (p.Thr431Ala)
c.1243A>G (p.Thr415Ala)
c.1276A>G (p.Thr426Ala)
c.1345A>G (p.Thr449Ala)
c.1324A>G (p.Thr442Ala)
c.1321A>G (p.Thr441Ala)
c.1303A>G (p.Thr435Ala)
c.1267A>G (p.Thr423Ala)
c.1246A>G (p.Thr416Ala)
c.421+30573T>C (n.421+30573T>C)
n.440+30573T>C
n.242+37968T>C
c.1009A>G (p.Thr337Ala)
c.1423A>G (p.Thr475Ala)
 dbSNP gnomAD v3 gnomAD v4
6g.32293382T>GCA363561508TSBP1,TSBP1-AS1c.1285A>C (p.Thr429Pro)
c.1288A>C (p.Thr430Pro)
c.1264A>C (p.Thr422Pro)
c.1291A>C (p.Thr431Pro)
c.1243A>C (p.Thr415Pro)
c.1276A>C (p.Thr426Pro)
c.1345A>C (p.Thr449Pro)
c.1324A>C (p.Thr442Pro)
c.1321A>C (p.Thr441Pro)
c.1303A>C (p.Thr435Pro)
c.1267A>C (p.Thr423Pro)
c.1246A>C (p.Thr416Pro)
c.421+30573T>G (n.421+30573T>G)
n.440+30573T>G
n.242+37968T>G
c.1009A>C (p.Thr337Pro)
c.1423A>C (p.Thr475Pro)
6g.32293382T=CA1619500811TSBP1,TSBP1-AS1c.1285A= (p.Thr429=)
c.1288A= (p.Thr430=)
c.1264A= (p.Thr422=)
c.1291A= (p.Thr431=)
c.1243A= (p.Thr415=)
c.1276A= (p.Thr426=)
c.1345A= (p.Thr449=)
c.1324A= (p.Thr442=)
c.1321A= (p.Thr441=)
c.1303A= (p.Thr435=)
c.1267A= (p.Thr423=)
c.1246A= (p.Thr416=)
c.421+30573T= (n.421+30573T=)
n.440+30573T=
n.242+37968T=
c.1009A= (p.Thr337=)
c.1423A= (p.Thr475=)
6g.32293383C>ACA3740501TSBP1,TSBP1-AS1c.1284G>T (p.Lys428Asn)
c.1287G>T (p.Lys429Asn)
c.1263G>T (p.Lys421Asn)
c.1290G>T (p.Lys430Asn)
c.1242G>T (p.Lys414Asn)
c.1275G>T (p.Lys425Asn)
c.1344G>T (p.Lys448Asn)
c.1323G>T (p.Lys441Asn)
c.1320G>T (p.Lys440Asn)
c.1302G>T (p.Lys434Asn)
c.1266G>T (p.Lys422Asn)
c.1245G>T (p.Lys415Asn)
c.421+30574C>A (n.421+30574C>A)
n.440+30574C>A
n.242+37969C>A
c.1008G>T (p.Lys336Asn)
c.1422G>T (p.Lys474Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293383C=CA1619500812TSBP1,TSBP1-AS1c.1284G= (p.Lys428=)
c.1287G= (p.Lys429=)
c.1263G= (p.Lys421=)
c.1290G= (p.Lys430=)
c.1242G= (p.Lys414=)
c.1275G= (p.Lys425=)
c.1344G= (p.Lys448=)
c.1323G= (p.Lys441=)
c.1320G= (p.Lys440=)
c.1302G= (p.Lys434=)
c.1266G= (p.Lys422=)
c.1245G= (p.Lys415=)
c.421+30574C= (n.421+30574C=)
n.440+30574C=
n.242+37969C=
c.1008G= (p.Lys336=)
c.1422G= (p.Lys474=)
6g.32293383C>GCA363561509TSBP1,TSBP1-AS1c.1284G>C (p.Lys428Asn)
c.1287G>C (p.Lys429Asn)
c.1263G>C (p.Lys421Asn)
c.1290G>C (p.Lys430Asn)
c.1242G>C (p.Lys414Asn)
c.1275G>C (p.Lys425Asn)
c.1344G>C (p.Lys448Asn)
c.1323G>C (p.Lys441Asn)
c.1320G>C (p.Lys440Asn)
c.1302G>C (p.Lys434Asn)
c.1266G>C (p.Lys422Asn)
c.1245G>C (p.Lys415Asn)
c.421+30574C>G (n.421+30574C>G)
n.440+30574C>G
n.242+37969C>G
c.1008G>C (p.Lys336Asn)
c.1422G>C (p.Lys474Asn)
 COSMIC
6g.32293383C>TCA449829443TSBP1,TSBP1-AS1c.1284G>A (p.Lys428=)
c.1287G>A (p.Lys429=)
c.1263G>A (p.Lys421=)
c.1290G>A (p.Lys430=)
c.1242G>A (p.Lys414=)
c.1275G>A (p.Lys425=)
c.1344G>A (p.Lys448=)
c.1323G>A (p.Lys441=)
c.1320G>A (p.Lys440=)
c.1302G>A (p.Lys434=)
c.1266G>A (p.Lys422=)
c.1245G>A (p.Lys415=)
c.421+30574C>T (n.421+30574C>T)
n.440+30574C>T
n.242+37969C>T
c.1008G>A (p.Lys336=)
c.1422G>A (p.Lys474=)
6g.32293384T>ACA363561510TSBP1,TSBP1-AS1c.1283A>T (p.Lys428Met)
c.1286A>T (p.Lys429Met)
c.1262A>T (p.Lys421Met)
c.1289A>T (p.Lys430Met)
c.1241A>T (p.Lys414Met)
c.1274A>T (p.Lys425Met)
c.1343A>T (p.Lys448Met)
c.1322A>T (p.Lys441Met)
c.1319A>T (p.Lys440Met)
c.1301A>T (p.Lys434Met)
c.1265A>T (p.Lys422Met)
c.1244A>T (p.Lys415Met)
c.421+30575T>A (n.421+30575T>A)
n.440+30575T>A
n.242+37970T>A
c.1007A>T (p.Lys336Met)
c.1421A>T (p.Lys474Met)
6g.32293384T>CCA363561511TSBP1,TSBP1-AS1c.1283A>G (p.Lys428Arg)
c.1286A>G (p.Lys429Arg)
c.1262A>G (p.Lys421Arg)
c.1289A>G (p.Lys430Arg)
c.1241A>G (p.Lys414Arg)
c.1274A>G (p.Lys425Arg)
c.1343A>G (p.Lys448Arg)
c.1322A>G (p.Lys441Arg)
c.1319A>G (p.Lys440Arg)
c.1301A>G (p.Lys434Arg)
c.1265A>G (p.Lys422Arg)
c.1244A>G (p.Lys415Arg)
c.421+30575T>C (n.421+30575T>C)
n.440+30575T>C
n.242+37970T>C
c.1007A>G (p.Lys336Arg)
c.1421A>G (p.Lys474Arg)
6g.32293384T>GCA363561512TSBP1,TSBP1-AS1c.1283A>C (p.Lys428Thr)
c.1286A>C (p.Lys429Thr)
c.1262A>C (p.Lys421Thr)
c.1289A>C (p.Lys430Thr)
c.1241A>C (p.Lys414Thr)
c.1274A>C (p.Lys425Thr)
c.1343A>C (p.Lys448Thr)
c.1322A>C (p.Lys441Thr)
c.1319A>C (p.Lys440Thr)
c.1301A>C (p.Lys434Thr)
c.1265A>C (p.Lys422Thr)
c.1244A>C (p.Lys415Thr)
c.421+30575T>G (n.421+30575T>G)
n.440+30575T>G
n.242+37970T>G
c.1007A>C (p.Lys336Thr)
c.1421A>C (p.Lys474Thr)
6g.32293384_32293385insGCA2578577724TSBP1,TSBP1-AS1c.1282_1283insC (p.Lys428ThrfsTer3)
c.1285_1286insC (p.Lys429ThrfsTer3)
c.1261_1262insC (p.Lys421ThrfsTer3)
c.1288_1289insC (p.Lys430ThrfsTer3)
c.1240_1241insC (p.Lys414ThrfsTer3)
c.1273_1274insC (p.Lys425ThrfsTer3)
c.1342_1343insC (p.Lys448ThrfsTer3)
c.1321_1322insC (p.Lys441ThrfsTer3)
c.1318_1319insC (p.Lys440ThrfsTer3)
c.1300_1301insC (p.Lys434ThrfsTer3)
c.1264_1265insC (p.Lys422ThrfsTer3)
c.1243_1244insC (p.Lys415ThrfsTer3)
c.421+30575_421+30576insG (n.421+30575_421+30576insG)
n.440+30575_440+30576insG
n.242+37970_242+37971insG
c.1006_1007insC (p.Lys336ThrfsTer3)
c.1420_1421insC (p.Lys474ThrfsTer3)
6g.32293385T>ACA363561513TSBP1,TSBP1-AS1c.1282A>T (p.Lys428Ter)
c.1285A>T (p.Lys429Ter)
c.1261A>T (p.Lys421Ter)
c.1288A>T (p.Lys430Ter)
c.1240A>T (p.Lys414Ter)
c.1273A>T (p.Lys425Ter)
c.1342A>T (p.Lys448Ter)
c.1321A>T (p.Lys441Ter)
c.1318A>T (p.Lys440Ter)
c.1300A>T (p.Lys434Ter)
c.1264A>T (p.Lys422Ter)
c.1243A>T (p.Lys415Ter)
c.421+30576T>A (n.421+30576T>A)
n.440+30576T>A
n.242+37971T>A
c.1006A>T (p.Lys336Ter)
c.1420A>T (p.Lys474Ter)
6g.32293385T>CCA363561514TSBP1,TSBP1-AS1c.1282A>G (p.Lys428Glu)
c.1285A>G (p.Lys429Glu)
c.1261A>G (p.Lys421Glu)
c.1288A>G (p.Lys430Glu)
c.1240A>G (p.Lys414Glu)
c.1273A>G (p.Lys425Glu)
c.1342A>G (p.Lys448Glu)
c.1321A>G (p.Lys441Glu)
c.1318A>G (p.Lys440Glu)
c.1300A>G (p.Lys434Glu)
c.1264A>G (p.Lys422Glu)
c.1243A>G (p.Lys415Glu)
c.421+30576T>C (n.421+30576T>C)
n.440+30576T>C
n.242+37971T>C
c.1006A>G (p.Lys336Glu)
c.1420A>G (p.Lys474Glu)
6g.32293385T>GCA363561515TSBP1,TSBP1-AS1c.1282A>C (p.Lys428Gln)
c.1285A>C (p.Lys429Gln)
c.1261A>C (p.Lys421Gln)
c.1288A>C (p.Lys430Gln)
c.1240A>C (p.Lys414Gln)
c.1273A>C (p.Lys425Gln)
c.1342A>C (p.Lys448Gln)
c.1321A>C (p.Lys441Gln)
c.1318A>C (p.Lys440Gln)
c.1300A>C (p.Lys434Gln)
c.1264A>C (p.Lys422Gln)
c.1243A>C (p.Lys415Gln)
c.421+30576T>G (n.421+30576T>G)
n.440+30576T>G
n.242+37971T>G
c.1006A>C (p.Lys336Gln)
c.1420A>C (p.Lys474Gln)
6g.32293386C>ACA363561516TSBP1,TSBP1-AS1c.1281G>T (p.Glu427Asp)
c.1284G>T (p.Glu428Asp)
c.1260G>T (p.Glu420Asp)
c.1287G>T (p.Glu429Asp)
c.1239G>T (p.Glu413Asp)
c.1272G>T (p.Glu424Asp)
c.1341G>T (p.Glu447Asp)
c.1320G>T (p.Glu440Asp)
c.1317G>T (p.Glu439Asp)
c.1299G>T (p.Glu433Asp)
c.1263G>T (p.Glu421Asp)
c.1242G>T (p.Glu414Asp)
c.421+30577C>A (n.421+30577C>A)
n.440+30577C>A
n.242+37972C>A
c.1005G>T (p.Glu335Asp)
c.1419G>T (p.Glu473Asp)
6g.32293386C>GCA363561517TSBP1,TSBP1-AS1c.1281G>C (p.Glu427Asp)
c.1284G>C (p.Glu428Asp)
c.1260G>C (p.Glu420Asp)
c.1287G>C (p.Glu429Asp)
c.1239G>C (p.Glu413Asp)
c.1272G>C (p.Glu424Asp)
c.1341G>C (p.Glu447Asp)
c.1320G>C (p.Glu440Asp)
c.1317G>C (p.Glu439Asp)
c.1299G>C (p.Glu433Asp)
c.1263G>C (p.Glu421Asp)
c.1242G>C (p.Glu414Asp)
c.421+30577C>G (n.421+30577C>G)
n.440+30577C>G
n.242+37972C>G
c.1005G>C (p.Glu335Asp)
c.1419G>C (p.Glu473Asp)
6g.32293386C>TCA449829450TSBP1,TSBP1-AS1c.1281G>A (p.Glu427=)
c.1284G>A (p.Glu428=)
c.1260G>A (p.Glu420=)
c.1287G>A (p.Glu429=)
c.1239G>A (p.Glu413=)
c.1272G>A (p.Glu424=)
c.1341G>A (p.Glu447=)
c.1320G>A (p.Glu440=)
c.1317G>A (p.Glu439=)
c.1299G>A (p.Glu433=)
c.1263G>A (p.Glu421=)
c.1242G>A (p.Glu414=)
c.421+30577C>T (n.421+30577C>T)
n.440+30577C>T
n.242+37972C>T
c.1005G>A (p.Glu335=)
c.1419G>A (p.Glu473=)
6g.32293387T>ACA363561518TSBP1,TSBP1-AS1c.1280A>T (p.Glu427Val)
c.1283A>T (p.Glu428Val)
c.1259A>T (p.Glu420Val)
c.1286A>T (p.Glu429Val)
c.1238A>T (p.Glu413Val)
c.1271A>T (p.Glu424Val)
c.1340A>T (p.Glu447Val)
c.1319A>T (p.Glu440Val)
c.1316A>T (p.Glu439Val)
c.1298A>T (p.Glu433Val)
c.1262A>T (p.Glu421Val)
c.1241A>T (p.Glu414Val)
c.421+30578T>A (n.421+30578T>A)
n.440+30578T>A
n.242+37973T>A
c.1004A>T (p.Glu335Val)
c.1418A>T (p.Glu473Val)
6g.32293387T>CCA363561519TSBP1,TSBP1-AS1c.1280A>G (p.Glu427Gly)
c.1283A>G (p.Glu428Gly)
c.1259A>G (p.Glu420Gly)
c.1286A>G (p.Glu429Gly)
c.1238A>G (p.Glu413Gly)
c.1271A>G (p.Glu424Gly)
c.1340A>G (p.Glu447Gly)
c.1319A>G (p.Glu440Gly)
c.1316A>G (p.Glu439Gly)
c.1298A>G (p.Glu433Gly)
c.1262A>G (p.Glu421Gly)
c.1241A>G (p.Glu414Gly)
c.421+30578T>C (n.421+30578T>C)
n.440+30578T>C
n.242+37973T>C
c.1004A>G (p.Glu335Gly)
c.1418A>G (p.Glu473Gly)
6g.32293387T>GCA363561520TSBP1,TSBP1-AS1c.1280A>C (p.Glu427Ala)
c.1283A>C (p.Glu428Ala)
c.1259A>C (p.Glu420Ala)
c.1286A>C (p.Glu429Ala)
c.1238A>C (p.Glu413Ala)
c.1271A>C (p.Glu424Ala)
c.1340A>C (p.Glu447Ala)
c.1319A>C (p.Glu440Ala)
c.1316A>C (p.Glu439Ala)
c.1298A>C (p.Glu433Ala)
c.1262A>C (p.Glu421Ala)
c.1241A>C (p.Glu414Ala)
c.421+30578T>G (n.421+30578T>G)
n.440+30578T>G
n.242+37973T>G
c.1004A>C (p.Glu335Ala)
c.1418A>C (p.Glu473Ala)
6g.32293388C>ACA363561523TSBP1,TSBP1-AS1c.1279G>T (p.Glu427Ter)
c.1282G>T (p.Glu428Ter)
c.1258G>T (p.Glu420Ter)
c.1285G>T (p.Glu429Ter)
c.1237G>T (p.Glu413Ter)
c.1270G>T (p.Glu424Ter)
c.1339G>T (p.Glu447Ter)
c.1318G>T (p.Glu440Ter)
c.1315G>T (p.Glu439Ter)
c.1297G>T (p.Glu433Ter)
c.1261G>T (p.Glu421Ter)
c.1240G>T (p.Glu414Ter)
c.421+30579C>A (n.421+30579C>A)
n.440+30579C>A
n.242+37974C>A
c.1003G>T (p.Glu335Ter)
c.1417G>T (p.Glu473Ter)
 gnomAD v4
6g.32293388C>GCA363561522TSBP1,TSBP1-AS1c.1279G>C (p.Glu427Gln)
c.1282G>C (p.Glu428Gln)
c.1258G>C (p.Glu420Gln)
c.1285G>C (p.Glu429Gln)
c.1237G>C (p.Glu413Gln)
c.1270G>C (p.Glu424Gln)
c.1339G>C (p.Glu447Gln)
c.1318G>C (p.Glu440Gln)
c.1315G>C (p.Glu439Gln)
c.1297G>C (p.Glu433Gln)
c.1261G>C (p.Glu421Gln)
c.1240G>C (p.Glu414Gln)
c.421+30579C>G (n.421+30579C>G)
n.440+30579C>G
n.242+37974C>G
c.1003G>C (p.Glu335Gln)
c.1417G>C (p.Glu473Gln)
6g.32293388C>TCA363561521TSBP1,TSBP1-AS1c.1279G>A (p.Glu427Lys)
c.1282G>A (p.Glu428Lys)
c.1258G>A (p.Glu420Lys)
c.1285G>A (p.Glu429Lys)
c.1237G>A (p.Glu413Lys)
c.1270G>A (p.Glu424Lys)
c.1339G>A (p.Glu447Lys)
c.1318G>A (p.Glu440Lys)
c.1315G>A (p.Glu439Lys)
c.1297G>A (p.Glu433Lys)
c.1261G>A (p.Glu421Lys)
c.1240G>A (p.Glu414Lys)
c.421+30579C>T (n.421+30579C>T)
n.440+30579C>T
n.242+37974C>T
c.1003G>A (p.Glu335Lys)
c.1417G>A (p.Glu473Lys)
 gnomAD v4
6g.32293389T>ACA449829456TSBP1,TSBP1-AS1c.1278A>T (p.Val426=)
c.1281A>T (p.Val427=)
c.1257A>T (p.Val419=)
c.1284A>T (p.Val428=)
c.1236A>T (p.Val412=)
c.1269A>T (p.Val423=)
c.1338A>T (p.Val446=)
c.1317A>T (p.Val439=)
c.1314A>T (p.Val438=)
c.1296A>T (p.Val432=)
c.1260A>T (p.Val420=)
c.1239A>T (p.Val413=)
c.421+30580T>A (n.421+30580T>A)
n.440+30580T>A
n.242+37975T>A
c.1002A>T (p.Val334=)
c.1416A>T (p.Val472=)
6g.32293389T>CCA449829458TSBP1,TSBP1-AS1c.1278A>G (p.Val426=)
c.1281A>G (p.Val427=)
c.1257A>G (p.Val419=)
c.1284A>G (p.Val428=)
c.1236A>G (p.Val412=)
c.1269A>G (p.Val423=)
c.1338A>G (p.Val446=)
c.1317A>G (p.Val439=)
c.1314A>G (p.Val438=)
c.1296A>G (p.Val432=)
c.1260A>G (p.Val420=)
c.1239A>G (p.Val413=)
c.421+30580T>C (n.421+30580T>C)
n.440+30580T>C
n.242+37975T>C
c.1002A>G (p.Val334=)
c.1416A>G (p.Val472=)
6g.32293389T>GCA449829459TSBP1,TSBP1-AS1c.1278A>C (p.Val426=)
c.1281A>C (p.Val427=)
c.1257A>C (p.Val419=)
c.1284A>C (p.Val428=)
c.1236A>C (p.Val412=)
c.1269A>C (p.Val423=)
c.1338A>C (p.Val446=)
c.1317A>C (p.Val439=)
c.1314A>C (p.Val438=)
c.1296A>C (p.Val432=)
c.1260A>C (p.Val420=)
c.1239A>C (p.Val413=)
c.421+30580T>G (n.421+30580T>G)
n.440+30580T>G
n.242+37975T>G
c.1002A>C (p.Val334=)
c.1416A>C (p.Val472=)
6g.32293390A=CA1619500813TSBP1,TSBP1-AS1c.1277T= (p.Val426=)
c.1280T= (p.Val427=)
c.1256T= (p.Val419=)
c.1283T= (p.Val428=)
c.1235T= (p.Val412=)
c.1268T= (p.Val423=)
c.1337T= (p.Val446=)
c.1316T= (p.Val439=)
c.1313T= (p.Val438=)
c.1295T= (p.Val432=)
c.1259T= (p.Val420=)
c.1238T= (p.Val413=)
c.421+30581A= (n.421+30581A=)
n.440+30581A=
n.242+37976A=
c.1001T= (p.Val334=)
c.1415T= (p.Val472=)
6g.32293390A>CCA363561524TSBP1,TSBP1-AS1c.1277T>G (p.Val426Gly)
c.1280T>G (p.Val427Gly)
c.1256T>G (p.Val419Gly)
c.1283T>G (p.Val428Gly)
c.1235T>G (p.Val412Gly)
c.1268T>G (p.Val423Gly)
c.1337T>G (p.Val446Gly)
c.1316T>G (p.Val439Gly)
c.1313T>G (p.Val438Gly)
c.1295T>G (p.Val432Gly)
c.1259T>G (p.Val420Gly)
c.1238T>G (p.Val413Gly)
c.421+30581A>C (n.421+30581A>C)
n.440+30581A>C
n.242+37976A>C
c.1001T>G (p.Val334Gly)
c.1415T>G (p.Val472Gly)
 dbSNP gnomAD v3 gnomAD v4
6g.32293390A>GCA363561525TSBP1,TSBP1-AS1c.1277T>C (p.Val426Ala)
c.1280T>C (p.Val427Ala)
c.1256T>C (p.Val419Ala)
c.1283T>C (p.Val428Ala)
c.1235T>C (p.Val412Ala)
c.1268T>C (p.Val423Ala)
c.1337T>C (p.Val446Ala)
c.1316T>C (p.Val439Ala)
c.1313T>C (p.Val438Ala)
c.1295T>C (p.Val432Ala)
c.1259T>C (p.Val420Ala)
c.1238T>C (p.Val413Ala)
c.421+30581A>G (n.421+30581A>G)
n.440+30581A>G
n.242+37976A>G
c.1001T>C (p.Val334Ala)
c.1415T>C (p.Val472Ala)
 gnomAD v4
6g.32293390A>TCA363561526TSBP1,TSBP1-AS1c.1277T>A (p.Val426Glu)
c.1280T>A (p.Val427Glu)
c.1256T>A (p.Val419Glu)
c.1283T>A (p.Val428Glu)
c.1235T>A (p.Val412Glu)
c.1268T>A (p.Val423Glu)
c.1337T>A (p.Val446Glu)
c.1316T>A (p.Val439Glu)
c.1313T>A (p.Val438Glu)
c.1295T>A (p.Val432Glu)
c.1259T>A (p.Val420Glu)
c.1238T>A (p.Val413Glu)
c.421+30581A>T (n.421+30581A>T)
n.440+30581A>T
n.242+37976A>T
c.1001T>A (p.Val334Glu)
c.1415T>A (p.Val472Glu)
6g.32293391C>ACA363561527TSBP1,TSBP1-AS1c.1276G>T (p.Val426Leu)
c.1279G>T (p.Val427Leu)
c.1255G>T (p.Val419Leu)
c.1282G>T (p.Val428Leu)
c.1234G>T (p.Val412Leu)
c.1267G>T (p.Val423Leu)
c.1336G>T (p.Val446Leu)
c.1315G>T (p.Val439Leu)
c.1312G>T (p.Val438Leu)
c.1294G>T (p.Val432Leu)
c.1258G>T (p.Val420Leu)
c.1237G>T (p.Val413Leu)
c.421+30582C>A (n.421+30582C>A)
n.440+30582C>A
n.242+37977C>A
c.1000G>T (p.Val334Leu)
c.1414G>T (p.Val472Leu)
6g.32293391C=CA1619500814TSBP1,TSBP1-AS1c.1276G= (p.Val426=)
c.1279G= (p.Val427=)
c.1255G= (p.Val419=)
c.1282G= (p.Val428=)
c.1234G= (p.Val412=)
c.1267G= (p.Val423=)
c.1336G= (p.Val446=)
c.1315G= (p.Val439=)
c.1312G= (p.Val438=)
c.1294G= (p.Val432=)
c.1258G= (p.Val420=)
c.1237G= (p.Val413=)
c.421+30582C= (n.421+30582C=)
n.440+30582C=
n.242+37977C=
c.1000G= (p.Val334=)
c.1414G= (p.Val472=)
6g.32293391C>GCA363561528TSBP1,TSBP1-AS1c.1276G>C (p.Val426Leu)
c.1279G>C (p.Val427Leu)
c.1255G>C (p.Val419Leu)
c.1282G>C (p.Val428Leu)
c.1234G>C (p.Val412Leu)
c.1267G>C (p.Val423Leu)
c.1336G>C (p.Val446Leu)
c.1315G>C (p.Val439Leu)
c.1312G>C (p.Val438Leu)
c.1294G>C (p.Val432Leu)
c.1258G>C (p.Val420Leu)
c.1237G>C (p.Val413Leu)
c.421+30582C>G (n.421+30582C>G)
n.440+30582C>G
n.242+37977C>G
c.1000G>C (p.Val334Leu)
c.1414G>C (p.Val472Leu)
6g.32293391C>TCA3740502TSBP1,TSBP1-AS1c.1276G>A (p.Val426Ile)
c.1279G>A (p.Val427Ile)
c.1255G>A (p.Val419Ile)
c.1282G>A (p.Val428Ile)
c.1234G>A (p.Val412Ile)
c.1267G>A (p.Val423Ile)
c.1336G>A (p.Val446Ile)
c.1315G>A (p.Val439Ile)
c.1312G>A (p.Val438Ile)
c.1294G>A (p.Val432Ile)
c.1258G>A (p.Val420Ile)
c.1237G>A (p.Val413Ile)
c.421+30582C>T (n.421+30582C>T)
n.440+30582C>T
n.242+37977C>T
c.1000G>A (p.Val334Ile)
c.1414G>A (p.Val472Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293392T>ACA363561530TSBP1,TSBP1-AS1c.1275A>T (p.Gln425His)
c.1278A>T (p.Gln426His)
c.1254A>T (p.Gln418His)
c.1281A>T (p.Gln427His)
c.1233A>T (p.Gln411His)
c.1266A>T (p.Gln422His)
c.1335A>T (p.Gln445His)
c.1314A>T (p.Gln438His)
c.1311A>T (p.Gln437His)
c.1293A>T (p.Gln431His)
c.1257A>T (p.Gln419His)
c.1236A>T (p.Gln412His)
c.421+30583T>A (n.421+30583T>A)
n.440+30583T>A
n.242+37978T>A
c.999A>T (p.Gln333His)
c.1413A>T (p.Gln471His)
6g.32293392T>CCA449829467TSBP1,TSBP1-AS1c.1275A>G (p.Gln425=)
c.1278A>G (p.Gln426=)
c.1254A>G (p.Gln418=)
c.1281A>G (p.Gln427=)
c.1233A>G (p.Gln411=)
c.1266A>G (p.Gln422=)
c.1335A>G (p.Gln445=)
c.1314A>G (p.Gln438=)
c.1311A>G (p.Gln437=)
c.1293A>G (p.Gln431=)
c.1257A>G (p.Gln419=)
c.1236A>G (p.Gln412=)
c.421+30583T>C (n.421+30583T>C)
n.440+30583T>C
n.242+37978T>C
c.999A>G (p.Gln333=)
c.1413A>G (p.Gln471=)
6g.32293392T>GCA363561529TSBP1,TSBP1-AS1c.1275A>C (p.Gln425His)
c.1278A>C (p.Gln426His)
c.1254A>C (p.Gln418His)
c.1281A>C (p.Gln427His)
c.1233A>C (p.Gln411His)
c.1266A>C (p.Gln422His)
c.1335A>C (p.Gln445His)
c.1314A>C (p.Gln438His)
c.1311A>C (p.Gln437His)
c.1293A>C (p.Gln431His)
c.1257A>C (p.Gln419His)
c.1236A>C (p.Gln412His)
c.421+30583T>G (n.421+30583T>G)
n.440+30583T>G
n.242+37978T>G
c.999A>C (p.Gln333His)
c.1413A>C (p.Gln471His)
6g.32293393T>ACA363561531TSBP1,TSBP1-AS1c.1274A>T (p.Gln425Leu)
c.1277A>T (p.Gln426Leu)
c.1253A>T (p.Gln418Leu)
c.1280A>T (p.Gln427Leu)
c.1232A>T (p.Gln411Leu)
c.1265A>T (p.Gln422Leu)
c.1334A>T (p.Gln445Leu)
c.1313A>T (p.Gln438Leu)
c.1310A>T (p.Gln437Leu)
c.1292A>T (p.Gln431Leu)
c.1256A>T (p.Gln419Leu)
c.1235A>T (p.Gln412Leu)
c.421+30584T>A (n.421+30584T>A)
n.440+30584T>A
n.242+37979T>A
c.998A>T (p.Gln333Leu)
c.1412A>T (p.Gln471Leu)
6g.32293393T>CCA363561532TSBP1,TSBP1-AS1c.1274A>G (p.Gln425Arg)
c.1277A>G (p.Gln426Arg)
c.1253A>G (p.Gln418Arg)
c.1280A>G (p.Gln427Arg)
c.1232A>G (p.Gln411Arg)
c.1265A>G (p.Gln422Arg)
c.1334A>G (p.Gln445Arg)
c.1313A>G (p.Gln438Arg)
c.1310A>G (p.Gln437Arg)
c.1292A>G (p.Gln431Arg)
c.1256A>G (p.Gln419Arg)
c.1235A>G (p.Gln412Arg)
c.421+30584T>C (n.421+30584T>C)
n.440+30584T>C
n.242+37979T>C
c.998A>G (p.Gln333Arg)
c.1412A>G (p.Gln471Arg)
6g.32293393T>GCA363561533TSBP1,TSBP1-AS1c.1274A>C (p.Gln425Pro)
c.1277A>C (p.Gln426Pro)
c.1253A>C (p.Gln418Pro)
c.1280A>C (p.Gln427Pro)
c.1232A>C (p.Gln411Pro)
c.1265A>C (p.Gln422Pro)
c.1334A>C (p.Gln445Pro)
c.1313A>C (p.Gln438Pro)
c.1310A>C (p.Gln437Pro)
c.1292A>C (p.Gln431Pro)
c.1256A>C (p.Gln419Pro)
c.1235A>C (p.Gln412Pro)
c.421+30584T>G (n.421+30584T>G)
n.440+30584T>G
n.242+37979T>G
c.998A>C (p.Gln333Pro)
c.1412A>C (p.Gln471Pro)
6g.32293394_32293398dupCA2678139198TSBP1,TSBP1-AS1c.1270_1274dup (p.Val426AlafsTer3)
c.1273_1277dup (p.Val427AlafsTer3)
c.1249_1253dup (p.Val419AlafsTer3)
c.1276_1280dup (p.Val428AlafsTer3)
c.1228_1232dup (p.Val412AlafsTer3)
c.1261_1265dup (p.Val423AlafsTer3)
c.1330_1334dup (p.Val446AlafsTer3)
c.1309_1313dup (p.Val439AlafsTer3)
c.1306_1310dup (p.Val438AlafsTer3)
c.1288_1292dup (p.Val432AlafsTer3)
c.1252_1256dup (p.Val420AlafsTer3)
c.1231_1235dup (p.Val413AlafsTer3)
c.421+30585_421+30589dup (n.421+30585_421+30589dup)
n.440+30585_440+30589dup
n.242+37980_242+37984dup
c.994_998dup (p.Val334AlafsTer3)
c.1408_1412dup (p.Val472AlafsTer3)
 gnomAD v4
6g.32293394G>ACA363561534TSBP1,TSBP1-AS1c.1273C>T (p.Gln425Ter)
c.1276C>T (p.Gln426Ter)
c.1252C>T (p.Gln418Ter)
c.1279C>T (p.Gln427Ter)
c.1231C>T (p.Gln411Ter)
c.1264C>T (p.Gln422Ter)
c.1333C>T (p.Gln445Ter)
c.1312C>T (p.Gln438Ter)
c.1309C>T (p.Gln437Ter)
c.1291C>T (p.Gln431Ter)
c.1255C>T (p.Gln419Ter)
c.1234C>T (p.Gln412Ter)
c.421+30585G>A (n.421+30585G>A)
n.440+30585G>A
n.242+37980G>A
c.997C>T (p.Gln333Ter)
c.1411C>T (p.Gln471Ter)
6g.32293394G>CCA363561535TSBP1,TSBP1-AS1c.1273C>G (p.Gln425Glu)
c.1276C>G (p.Gln426Glu)
c.1252C>G (p.Gln418Glu)
c.1279C>G (p.Gln427Glu)
c.1231C>G (p.Gln411Glu)
c.1264C>G (p.Gln422Glu)
c.1333C>G (p.Gln445Glu)
c.1312C>G (p.Gln438Glu)
c.1309C>G (p.Gln437Glu)
c.1291C>G (p.Gln431Glu)
c.1255C>G (p.Gln419Glu)
c.1234C>G (p.Gln412Glu)
c.421+30585G>C (n.421+30585G>C)
n.440+30585G>C
n.242+37980G>C
c.997C>G (p.Gln333Glu)
c.1411C>G (p.Gln471Glu)
6g.32293394G>TCA363561536TSBP1,TSBP1-AS1c.1273C>A (p.Gln425Lys)
c.1276C>A (p.Gln426Lys)
c.1252C>A (p.Gln418Lys)
c.1279C>A (p.Gln427Lys)
c.1231C>A (p.Gln411Lys)
c.1264C>A (p.Gln422Lys)
c.1333C>A (p.Gln445Lys)
c.1312C>A (p.Gln438Lys)
c.1309C>A (p.Gln437Lys)
c.1291C>A (p.Gln431Lys)
c.1255C>A (p.Gln419Lys)
c.1234C>A (p.Gln412Lys)
c.421+30585G>T (n.421+30585G>T)
n.440+30585G>T
n.242+37980G>T
c.997C>A (p.Gln333Lys)
c.1411C>A (p.Gln471Lys)
6g.32293395G>ACA449829472TSBP1,TSBP1-AS1c.1272C>T (p.Gly424=)
c.1275C>T (p.Gly425=)
c.1251C>T (p.Gly417=)
c.1278C>T (p.Gly426=)
c.1230C>T (p.Gly410=)
c.1263C>T (p.Gly421=)
c.1332C>T (p.Gly444=)
c.1311C>T (p.Gly437=)
c.1308C>T (p.Gly436=)
c.1290C>T (p.Gly430=)
c.1254C>T (p.Gly418=)
c.1233C>T (p.Gly411=)
c.421+30586G>A (n.421+30586G>A)
n.440+30586G>A
n.242+37981G>A
c.996C>T (p.Gly332=)
c.1410C>T (p.Gly470=)
6g.32293395G>CCA449829474TSBP1,TSBP1-AS1c.1272C>G (p.Gly424=)
c.1275C>G (p.Gly425=)
c.1251C>G (p.Gly417=)
c.1278C>G (p.Gly426=)
c.1230C>G (p.Gly410=)
c.1263C>G (p.Gly421=)
c.1332C>G (p.Gly444=)
c.1311C>G (p.Gly437=)
c.1308C>G (p.Gly436=)
c.1290C>G (p.Gly430=)
c.1254C>G (p.Gly418=)
c.1233C>G (p.Gly411=)
c.421+30586G>C (n.421+30586G>C)
n.440+30586G>C
n.242+37981G>C
c.996C>G (p.Gly332=)
c.1410C>G (p.Gly470=)
6g.32293395G>TCA449829473TSBP1,TSBP1-AS1c.1272C>A (p.Gly424=)
c.1275C>A (p.Gly425=)
c.1251C>A (p.Gly417=)
c.1278C>A (p.Gly426=)
c.1230C>A (p.Gly410=)
c.1263C>A (p.Gly421=)
c.1332C>A (p.Gly444=)
c.1311C>A (p.Gly437=)
c.1308C>A (p.Gly436=)
c.1290C>A (p.Gly430=)
c.1254C>A (p.Gly418=)
c.1233C>A (p.Gly411=)
c.421+30586G>T (n.421+30586G>T)
n.440+30586G>T
n.242+37981G>T
c.996C>A (p.Gly332=)
c.1410C>A (p.Gly470=)
6g.32293396C>ACA363561537TSBP1,TSBP1-AS1c.1271G>T (p.Gly424Val)
c.1274G>T (p.Gly425Val)
c.1250G>T (p.Gly417Val)
c.1277G>T (p.Gly426Val)
c.1229G>T (p.Gly410Val)
c.1262G>T (p.Gly421Val)
c.1331G>T (p.Gly444Val)
c.1310G>T (p.Gly437Val)
c.1307G>T (p.Gly436Val)
c.1289G>T (p.Gly430Val)
c.1253G>T (p.Gly418Val)
c.1232G>T (p.Gly411Val)
c.421+30587C>A (n.421+30587C>A)
n.440+30587C>A
n.242+37982C>A
c.995G>T (p.Gly332Val)
c.1409G>T (p.Gly470Val)
 dbSNP gnomAD v2
6g.32293396C=CA1619500815TSBP1,TSBP1-AS1c.1271G= (p.Gly424=)
c.1274G= (p.Gly425=)
c.1250G= (p.Gly417=)
c.1277G= (p.Gly426=)
c.1229G= (p.Gly410=)
c.1262G= (p.Gly421=)
c.1331G= (p.Gly444=)
c.1310G= (p.Gly437=)
c.1307G= (p.Gly436=)
c.1289G= (p.Gly430=)
c.1253G= (p.Gly418=)
c.1232G= (p.Gly411=)
c.421+30587C= (n.421+30587C=)
n.440+30587C=
n.242+37982C=
c.995G= (p.Gly332=)
c.1409G= (p.Gly470=)
6g.32293396C>GCA363561539TSBP1,TSBP1-AS1c.1271G>C (p.Gly424Ala)
c.1274G>C (p.Gly425Ala)
c.1250G>C (p.Gly417Ala)
c.1277G>C (p.Gly426Ala)
c.1229G>C (p.Gly410Ala)
c.1262G>C (p.Gly421Ala)
c.1331G>C (p.Gly444Ala)
c.1310G>C (p.Gly437Ala)
c.1307G>C (p.Gly436Ala)
c.1289G>C (p.Gly430Ala)
c.1253G>C (p.Gly418Ala)
c.1232G>C (p.Gly411Ala)
c.421+30587C>G (n.421+30587C>G)
n.440+30587C>G
n.242+37982C>G
c.995G>C (p.Gly332Ala)
c.1409G>C (p.Gly470Ala)
6g.32293396C>TCA363561538TSBP1,TSBP1-AS1c.1271G>A (p.Gly424Asp)
c.1274G>A (p.Gly425Asp)
c.1250G>A (p.Gly417Asp)
c.1277G>A (p.Gly426Asp)
c.1229G>A (p.Gly410Asp)
c.1262G>A (p.Gly421Asp)
c.1331G>A (p.Gly444Asp)
c.1310G>A (p.Gly437Asp)
c.1307G>A (p.Gly436Asp)
c.1289G>A (p.Gly430Asp)
c.1253G>A (p.Gly418Asp)
c.1232G>A (p.Gly411Asp)
c.421+30587C>T (n.421+30587C>T)
n.440+30587C>T
n.242+37982C>T
c.995G>A (p.Gly332Asp)
c.1409G>A (p.Gly470Asp)
6g.32293397C>ACA136929564TSBP1,TSBP1-AS1c.1270G>T (p.Gly424Cys)
c.1273G>T (p.Gly425Cys)
c.1249G>T (p.Gly417Cys)
c.1276G>T (p.Gly426Cys)
c.1228G>T (p.Gly410Cys)
c.1261G>T (p.Gly421Cys)
c.1330G>T (p.Gly444Cys)
c.1309G>T (p.Gly437Cys)
c.1306G>T (p.Gly436Cys)
c.1288G>T (p.Gly430Cys)
c.1252G>T (p.Gly418Cys)
c.1231G>T (p.Gly411Cys)
c.421+30588C>A (n.421+30588C>A)
n.440+30588C>A
n.242+37983C>A
c.994G>T (p.Gly332Cys)
c.1408G>T (p.Gly470Cys)
 dbSNP
6g.32293397C=CA1619500816TSBP1,TSBP1-AS1c.1270G= (p.Gly424=)
c.1273G= (p.Gly425=)
c.1249G= (p.Gly417=)
c.1276G= (p.Gly426=)
c.1228G= (p.Gly410=)
c.1261G= (p.Gly421=)
c.1330G= (p.Gly444=)
c.1309G= (p.Gly437=)
c.1306G= (p.Gly436=)
c.1288G= (p.Gly430=)
c.1252G= (p.Gly418=)
c.1231G= (p.Gly411=)
c.421+30588C= (n.421+30588C=)
n.440+30588C=
n.242+37983C=
c.994G= (p.Gly332=)
c.1408G= (p.Gly470=)
6g.32293397C>GCA363561540TSBP1,TSBP1-AS1c.1270G>C (p.Gly424Arg)
c.1273G>C (p.Gly425Arg)
c.1249G>C (p.Gly417Arg)
c.1276G>C (p.Gly426Arg)
c.1228G>C (p.Gly410Arg)
c.1261G>C (p.Gly421Arg)
c.1330G>C (p.Gly444Arg)
c.1309G>C (p.Gly437Arg)
c.1306G>C (p.Gly436Arg)
c.1288G>C (p.Gly430Arg)
c.1252G>C (p.Gly418Arg)
c.1231G>C (p.Gly411Arg)
c.421+30588C>G (n.421+30588C>G)
n.440+30588C>G
n.242+37983C>G
c.994G>C (p.Gly332Arg)
c.1408G>C (p.Gly470Arg)
6g.32293397C>TCA363561541TSBP1,TSBP1-AS1c.1270G>A (p.Gly424Ser)
c.1273G>A (p.Gly425Ser)
c.1249G>A (p.Gly417Ser)
c.1276G>A (p.Gly426Ser)
c.1228G>A (p.Gly410Ser)
c.1261G>A (p.Gly421Ser)
c.1330G>A (p.Gly444Ser)
c.1309G>A (p.Gly437Ser)
c.1306G>A (p.Gly436Ser)
c.1288G>A (p.Gly430Ser)
c.1252G>A (p.Gly418Ser)
c.1231G>A (p.Gly411Ser)
c.421+30588C>T (n.421+30588C>T)
n.440+30588C>T
n.242+37983C>T
c.994G>A (p.Gly332Ser)
c.1408G>A (p.Gly470Ser)
 gnomAD v4
6g.32293398T>ACA363561542TSBP1,TSBP1-AS1c.1269A>T (p.Glu423Asp)
c.1272A>T (p.Glu424Asp)
c.1248A>T (p.Glu416Asp)
c.1275A>T (p.Glu425Asp)
c.1227A>T (p.Glu409Asp)
c.1260A>T (p.Glu420Asp)
c.1329A>T (p.Glu443Asp)
c.1308A>T (p.Glu436Asp)
c.1305A>T (p.Glu435Asp)
c.1287A>T (p.Glu429Asp)
c.1251A>T (p.Glu417Asp)
c.1230A>T (p.Glu410Asp)
c.421+30589T>A (n.421+30589T>A)
n.440+30589T>A
n.242+37984T>A
c.993A>T (p.Glu331Asp)
c.1407A>T (p.Glu469Asp)
6g.32293398T>CCA449829479TSBP1,TSBP1-AS1c.1269A>G (p.Glu423=)
c.1272A>G (p.Glu424=)
c.1248A>G (p.Glu416=)
c.1275A>G (p.Glu425=)
c.1227A>G (p.Glu409=)
c.1260A>G (p.Glu420=)
c.1329A>G (p.Glu443=)
c.1308A>G (p.Glu436=)
c.1305A>G (p.Glu435=)
c.1287A>G (p.Glu429=)
c.1251A>G (p.Glu417=)
c.1230A>G (p.Glu410=)
c.421+30589T>C (n.421+30589T>C)
n.440+30589T>C
n.242+37984T>C
c.993A>G (p.Glu331=)
c.1407A>G (p.Glu469=)
6g.32293398T>GCA363561543TSBP1,TSBP1-AS1c.1269A>C (p.Glu423Asp)
c.1272A>C (p.Glu424Asp)
c.1248A>C (p.Glu416Asp)
c.1275A>C (p.Glu425Asp)
c.1227A>C (p.Glu409Asp)
c.1260A>C (p.Glu420Asp)
c.1329A>C (p.Glu443Asp)
c.1308A>C (p.Glu436Asp)
c.1305A>C (p.Glu435Asp)
c.1287A>C (p.Glu429Asp)
c.1251A>C (p.Glu417Asp)
c.1230A>C (p.Glu410Asp)
c.421+30589T>G (n.421+30589T>G)
n.440+30589T>G
n.242+37984T>G
c.993A>C (p.Glu331Asp)
c.1407A>C (p.Glu469Asp)
6g.32293399T>ACA363561544TSBP1,TSBP1-AS1c.1268A>T (p.Glu423Val)
c.1271A>T (p.Glu424Val)
c.1247A>T (p.Glu416Val)
c.1274A>T (p.Glu425Val)
c.1226A>T (p.Glu409Val)
c.1259A>T (p.Glu420Val)
c.1328A>T (p.Glu443Val)
c.1307A>T (p.Glu436Val)
c.1304A>T (p.Glu435Val)
c.1286A>T (p.Glu429Val)
c.1250A>T (p.Glu417Val)
c.1229A>T (p.Glu410Val)
c.421+30590T>A (n.421+30590T>A)
n.440+30590T>A
n.242+37985T>A
c.992A>T (p.Glu331Val)
c.1406A>T (p.Glu469Val)
 gnomAD v4
6g.32293399T>CCA363561545TSBP1,TSBP1-AS1c.1268A>G (p.Glu423Gly)
c.1271A>G (p.Glu424Gly)
c.1247A>G (p.Glu416Gly)
c.1274A>G (p.Glu425Gly)
c.1226A>G (p.Glu409Gly)
c.1259A>G (p.Glu420Gly)
c.1328A>G (p.Glu443Gly)
c.1307A>G (p.Glu436Gly)
c.1304A>G (p.Glu435Gly)
c.1286A>G (p.Glu429Gly)
c.1250A>G (p.Glu417Gly)
c.1229A>G (p.Glu410Gly)
c.421+30590T>C (n.421+30590T>C)
n.440+30590T>C
n.242+37985T>C
c.992A>G (p.Glu331Gly)
c.1406A>G (p.Glu469Gly)
6g.32293399T>GCA363561546TSBP1,TSBP1-AS1c.1268A>C (p.Glu423Ala)
c.1271A>C (p.Glu424Ala)
c.1247A>C (p.Glu416Ala)
c.1274A>C (p.Glu425Ala)
c.1226A>C (p.Glu409Ala)
c.1259A>C (p.Glu420Ala)
c.1328A>C (p.Glu443Ala)
c.1307A>C (p.Glu436Ala)
c.1304A>C (p.Glu435Ala)
c.1286A>C (p.Glu429Ala)
c.1250A>C (p.Glu417Ala)
c.1229A>C (p.Glu410Ala)
c.421+30590T>G (n.421+30590T>G)
n.440+30590T>G
n.242+37985T>G
c.992A>C (p.Glu331Ala)
c.1406A>C (p.Glu469Ala)
6g.32293400C>ACA363561547TSBP1,TSBP1-AS1c.1267G>T (p.Glu423Ter)
c.1270G>T (p.Glu424Ter)
c.1246G>T (p.Glu416Ter)
c.1273G>T (p.Glu425Ter)
c.1225G>T (p.Glu409Ter)
c.1258G>T (p.Glu420Ter)
c.1327G>T (p.Glu443Ter)
c.1306G>T (p.Glu436Ter)
c.1303G>T (p.Glu435Ter)
c.1285G>T (p.Glu429Ter)
c.1249G>T (p.Glu417Ter)
c.1228G>T (p.Glu410Ter)
c.421+30591C>A (n.421+30591C>A)
n.440+30591C>A
n.242+37986C>A
c.991G>T (p.Glu331Ter)
c.1405G>T (p.Glu469Ter)
 gnomAD v4
6g.32293400C>GCA363561548TSBP1,TSBP1-AS1c.1267G>C (p.Glu423Gln)
c.1270G>C (p.Glu424Gln)
c.1246G>C (p.Glu416Gln)
c.1273G>C (p.Glu425Gln)
c.1225G>C (p.Glu409Gln)
c.1258G>C (p.Glu420Gln)
c.1327G>C (p.Glu443Gln)
c.1306G>C (p.Glu436Gln)
c.1303G>C (p.Glu435Gln)
c.1285G>C (p.Glu429Gln)
c.1249G>C (p.Glu417Gln)
c.1228G>C (p.Glu410Gln)
c.421+30591C>G (n.421+30591C>G)
n.440+30591C>G
n.242+37986C>G
c.991G>C (p.Glu331Gln)
c.1405G>C (p.Glu469Gln)
6g.32293400C>TCA363561549TSBP1,TSBP1-AS1c.1267G>A (p.Glu423Lys)
c.1270G>A (p.Glu424Lys)
c.1246G>A (p.Glu416Lys)
c.1273G>A (p.Glu425Lys)
c.1225G>A (p.Glu409Lys)
c.1258G>A (p.Glu420Lys)
c.1327G>A (p.Glu443Lys)
c.1306G>A (p.Glu436Lys)
c.1303G>A (p.Glu435Lys)
c.1285G>A (p.Glu429Lys)
c.1249G>A (p.Glu417Lys)
c.1228G>A (p.Glu410Lys)
c.421+30591C>T (n.421+30591C>T)
n.440+30591C>T
n.242+37986C>T
c.991G>A (p.Glu331Lys)
c.1405G>A (p.Glu469Lys)
6g.32293401T>ACA363561551TSBP1,TSBP1-AS1c.1266A>T (p.Gln422His)
c.1269A>T (p.Gln423His)
c.1245A>T (p.Gln415His)
c.1272A>T (p.Gln424His)
c.1224A>T (p.Gln408His)
c.1257A>T (p.Gln419His)
c.1326A>T (p.Gln442His)
c.1305A>T (p.Gln435His)
c.1302A>T (p.Gln434His)
c.1284A>T (p.Gln428His)
c.1248A>T (p.Gln416His)
c.1227A>T (p.Gln409His)
c.421+30592T>A (n.421+30592T>A)
n.440+30592T>A
n.242+37987T>A
c.990A>T (p.Gln330His)
c.1404A>T (p.Gln468His)
6g.32293401T>CCA449829485TSBP1,TSBP1-AS1c.1266A>G (p.Gln422=)
c.1269A>G (p.Gln423=)
c.1245A>G (p.Gln415=)
c.1272A>G (p.Gln424=)
c.1224A>G (p.Gln408=)
c.1257A>G (p.Gln419=)
c.1326A>G (p.Gln442=)
c.1305A>G (p.Gln435=)
c.1302A>G (p.Gln434=)
c.1284A>G (p.Gln428=)
c.1248A>G (p.Gln416=)
c.1227A>G (p.Gln409=)
c.421+30592T>C (n.421+30592T>C)
n.440+30592T>C
n.242+37987T>C
c.990A>G (p.Gln330=)
c.1404A>G (p.Gln468=)
6g.32293401T>GCA363561550TSBP1,TSBP1-AS1c.1266A>C (p.Gln422His)
c.1269A>C (p.Gln423His)
c.1245A>C (p.Gln415His)
c.1272A>C (p.Gln424His)
c.1224A>C (p.Gln408His)
c.1257A>C (p.Gln419His)
c.1326A>C (p.Gln442His)
c.1305A>C (p.Gln435His)
c.1302A>C (p.Gln434His)
c.1284A>C (p.Gln428His)
c.1248A>C (p.Gln416His)
c.1227A>C (p.Gln409His)
c.421+30592T>G (n.421+30592T>G)
n.440+30592T>G
n.242+37987T>G
c.990A>C (p.Gln330His)
c.1404A>C (p.Gln468His)
6g.32293402T>ACA363561552TSBP1,TSBP1-AS1c.1265A>T (p.Gln422Leu)
c.1268A>T (p.Gln423Leu)
c.1244A>T (p.Gln415Leu)
c.1271A>T (p.Gln424Leu)
c.1223A>T (p.Gln408Leu)
c.1256A>T (p.Gln419Leu)
c.1325A>T (p.Gln442Leu)
c.1304A>T (p.Gln435Leu)
c.1301A>T (p.Gln434Leu)
c.1283A>T (p.Gln428Leu)
c.1247A>T (p.Gln416Leu)
c.1226A>T (p.Gln409Leu)
c.421+30593T>A (n.421+30593T>A)
n.440+30593T>A
n.242+37988T>A
c.989A>T (p.Gln330Leu)
c.1403A>T (p.Gln468Leu)
 gnomAD v4
6g.32293402T>CCA363561554TSBP1,TSBP1-AS1c.1265A>G (p.Gln422Arg)
c.1268A>G (p.Gln423Arg)
c.1244A>G (p.Gln415Arg)
c.1271A>G (p.Gln424Arg)
c.1223A>G (p.Gln408Arg)
c.1256A>G (p.Gln419Arg)
c.1325A>G (p.Gln442Arg)
c.1304A>G (p.Gln435Arg)
c.1301A>G (p.Gln434Arg)
c.1283A>G (p.Gln428Arg)
c.1247A>G (p.Gln416Arg)
c.1226A>G (p.Gln409Arg)
c.421+30593T>C (n.421+30593T>C)
n.440+30593T>C
n.242+37988T>C
c.989A>G (p.Gln330Arg)
c.1403A>G (p.Gln468Arg)
 dbSNP gnomAD v4
6g.32293402T>GCA363561553TSBP1,TSBP1-AS1c.1265A>C (p.Gln422Pro)
c.1268A>C (p.Gln423Pro)
c.1244A>C (p.Gln415Pro)
c.1271A>C (p.Gln424Pro)
c.1223A>C (p.Gln408Pro)
c.1256A>C (p.Gln419Pro)
c.1325A>C (p.Gln442Pro)
c.1304A>C (p.Gln435Pro)
c.1301A>C (p.Gln434Pro)
c.1283A>C (p.Gln428Pro)
c.1247A>C (p.Gln416Pro)
c.1226A>C (p.Gln409Pro)
c.421+30593T>G (n.421+30593T>G)
n.440+30593T>G
n.242+37988T>G
c.989A>C (p.Gln330Pro)
c.1403A>C (p.Gln468Pro)
6g.32293402T=CA1619500817TSBP1,TSBP1-AS1c.1265A= (p.Gln422=)
c.1268A= (p.Gln423=)
c.1244A= (p.Gln415=)
c.1271A= (p.Gln424=)
c.1223A= (p.Gln408=)
c.1256A= (p.Gln419=)
c.1325A= (p.Gln442=)
c.1304A= (p.Gln435=)
c.1301A= (p.Gln434=)
c.1283A= (p.Gln428=)
c.1247A= (p.Gln416=)
c.1226A= (p.Gln409=)
c.421+30593T= (n.421+30593T=)
n.440+30593T=
n.242+37988T=
c.989A= (p.Gln330=)
c.1403A= (p.Gln468=)
6g.32293403G>ACA363561555TSBP1,TSBP1-AS1c.1264C>T (p.Gln422Ter)
c.1267C>T (p.Gln423Ter)
c.1243C>T (p.Gln415Ter)
c.1270C>T (p.Gln424Ter)
c.1222C>T (p.Gln408Ter)
c.1255C>T (p.Gln419Ter)
c.1324C>T (p.Gln442Ter)
c.1303C>T (p.Gln435Ter)
c.1300C>T (p.Gln434Ter)
c.1282C>T (p.Gln428Ter)
c.1246C>T (p.Gln416Ter)
c.1225C>T (p.Gln409Ter)
c.421+30594G>A (n.421+30594G>A)
n.440+30594G>A
n.242+37989G>A
c.988C>T (p.Gln330Ter)
c.1402C>T (p.Gln468Ter)
6g.32293403G>CCA363561556TSBP1,TSBP1-AS1c.1264C>G (p.Gln422Glu)
c.1267C>G (p.Gln423Glu)
c.1243C>G (p.Gln415Glu)
c.1270C>G (p.Gln424Glu)
c.1222C>G (p.Gln408Glu)
c.1255C>G (p.Gln419Glu)
c.1324C>G (p.Gln442Glu)
c.1303C>G (p.Gln435Glu)
c.1300C>G (p.Gln434Glu)
c.1282C>G (p.Gln428Glu)
c.1246C>G (p.Gln416Glu)
c.1225C>G (p.Gln409Glu)
c.421+30594G>C (n.421+30594G>C)
n.440+30594G>C
n.242+37989G>C
c.988C>G (p.Gln330Glu)
c.1402C>G (p.Gln468Glu)
6g.32293403G>TCA363561557TSBP1,TSBP1-AS1c.1264C>A (p.Gln422Lys)
c.1267C>A (p.Gln423Lys)
c.1243C>A (p.Gln415Lys)
c.1270C>A (p.Gln424Lys)
c.1222C>A (p.Gln408Lys)
c.1255C>A (p.Gln419Lys)
c.1324C>A (p.Gln442Lys)
c.1303C>A (p.Gln435Lys)
c.1300C>A (p.Gln434Lys)
c.1282C>A (p.Gln428Lys)
c.1246C>A (p.Gln416Lys)
c.1225C>A (p.Gln409Lys)
c.421+30594G>T (n.421+30594G>T)
n.440+30594G>T
n.242+37989G>T
c.988C>A (p.Gln330Lys)
c.1402C>A (p.Gln468Lys)
6g.32293404T>ACA449829486TSBP1,TSBP1-AS1c.1263A>T (p.Gly421=)
c.1266A>T (p.Gly422=)
c.1242A>T (p.Gly414=)
c.1269A>T (p.Gly423=)
c.1221A>T (p.Gly407=)
c.1254A>T (p.Gly418=)
c.1323A>T (p.Gly441=)
c.1302A>T (p.Gly434=)
c.1299A>T (p.Gly433=)
c.1281A>T (p.Gly427=)
c.1245A>T (p.Gly415=)
c.1224A>T (p.Gly408=)
c.421+30595T>A (n.421+30595T>A)
n.440+30595T>A
n.242+37990T>A
c.987A>T (p.Gly329=)
c.1401A>T (p.Gly467=)
6g.32293404T>CCA449829487TSBP1,TSBP1-AS1c.1263A>G (p.Gly421=)
c.1266A>G (p.Gly422=)
c.1242A>G (p.Gly414=)
c.1269A>G (p.Gly423=)
c.1221A>G (p.Gly407=)
c.1254A>G (p.Gly418=)
c.1323A>G (p.Gly441=)
c.1302A>G (p.Gly434=)
c.1299A>G (p.Gly433=)
c.1281A>G (p.Gly427=)
c.1245A>G (p.Gly415=)
c.1224A>G (p.Gly408=)
c.421+30595T>C (n.421+30595T>C)
n.440+30595T>C
n.242+37990T>C
c.987A>G (p.Gly329=)
c.1401A>G (p.Gly467=)
6g.32293404T>GCA449829488TSBP1,TSBP1-AS1c.1263A>C (p.Gly421=)
c.1266A>C (p.Gly422=)
c.1242A>C (p.Gly414=)
c.1269A>C (p.Gly423=)
c.1221A>C (p.Gly407=)
c.1254A>C (p.Gly418=)
c.1323A>C (p.Gly441=)
c.1302A>C (p.Gly434=)
c.1299A>C (p.Gly433=)
c.1281A>C (p.Gly427=)
c.1245A>C (p.Gly415=)
c.1224A>C (p.Gly408=)
c.421+30595T>G (n.421+30595T>G)
n.440+30595T>G
n.242+37990T>G
c.987A>C (p.Gly329=)
c.1401A>C (p.Gly467=)
6g.32293405C>ACA363561558TSBP1,TSBP1-AS1c.1262G>T (p.Gly421Val)
c.1265G>T (p.Gly422Val)
c.1241G>T (p.Gly414Val)
c.1268G>T (p.Gly423Val)
c.1220G>T (p.Gly407Val)
c.1253G>T (p.Gly418Val)
c.1322G>T (p.Gly441Val)
c.1301G>T (p.Gly434Val)
c.1298G>T (p.Gly433Val)
c.1280G>T (p.Gly427Val)
c.1244G>T (p.Gly415Val)
c.1223G>T (p.Gly408Val)
c.421+30596C>A (n.421+30596C>A)
n.440+30596C>A
n.242+37991C>A
c.986G>T (p.Gly329Val)
c.1400G>T (p.Gly467Val)
6g.32293405C>GCA363561559TSBP1,TSBP1-AS1c.1262G>C (p.Gly421Ala)
c.1265G>C (p.Gly422Ala)
c.1241G>C (p.Gly414Ala)
c.1268G>C (p.Gly423Ala)
c.1220G>C (p.Gly407Ala)
c.1253G>C (p.Gly418Ala)
c.1322G>C (p.Gly441Ala)
c.1301G>C (p.Gly434Ala)
c.1298G>C (p.Gly433Ala)
c.1280G>C (p.Gly427Ala)
c.1244G>C (p.Gly415Ala)
c.1223G>C (p.Gly408Ala)
c.421+30596C>G (n.421+30596C>G)
n.440+30596C>G
n.242+37991C>G
c.986G>C (p.Gly329Ala)
c.1400G>C (p.Gly467Ala)
6g.32293405C>TCA363561560TSBP1,TSBP1-AS1c.1262G>A (p.Gly421Glu)
c.1265G>A (p.Gly422Glu)
c.1241G>A (p.Gly414Glu)
c.1268G>A (p.Gly423Glu)
c.1220G>A (p.Gly407Glu)
c.1253G>A (p.Gly418Glu)
c.1322G>A (p.Gly441Glu)
c.1301G>A (p.Gly434Glu)
c.1298G>A (p.Gly433Glu)
c.1280G>A (p.Gly427Glu)
c.1244G>A (p.Gly415Glu)
c.1223G>A (p.Gly408Glu)
c.421+30596C>T (n.421+30596C>T)
n.440+30596C>T
n.242+37991C>T
c.986G>A (p.Gly329Glu)
c.1400G>A (p.Gly467Glu)
6g.32293406C>ACA363561561TSBP1,TSBP1-AS1c.1261G>T (p.Gly421Ter)
c.1264G>T (p.Gly422Ter)
c.1240G>T (p.Gly414Ter)
c.1267G>T (p.Gly423Ter)
c.1219G>T (p.Gly407Ter)
c.1252G>T (p.Gly418Ter)
c.1321G>T (p.Gly441Ter)
c.1300G>T (p.Gly434Ter)
c.1297G>T (p.Gly433Ter)
c.1279G>T (p.Gly427Ter)
c.1243G>T (p.Gly415Ter)
c.1222G>T (p.Gly408Ter)
c.421+30597C>A (n.421+30597C>A)
n.440+30597C>A
n.242+37992C>A
c.985G>T (p.Gly329Ter)
c.1399G>T (p.Gly467Ter)
6g.32293406C=CA1619500819TSBP1,TSBP1-AS1c.1261G= (p.Gly421=)
c.1264G= (p.Gly422=)
c.1240G= (p.Gly414=)
c.1267G= (p.Gly423=)
c.1219G= (p.Gly407=)
c.1252G= (p.Gly418=)
c.1321G= (p.Gly441=)
c.1300G= (p.Gly434=)
c.1297G= (p.Gly433=)
c.1279G= (p.Gly427=)
c.1243G= (p.Gly415=)
c.1222G= (p.Gly408=)
c.421+30597C= (n.421+30597C=)
n.440+30597C=
n.242+37992C=
c.985G= (p.Gly329=)
c.1399G= (p.Gly467=)
6g.32293406C>GCA363561562TSBP1,TSBP1-AS1c.1261G>C (p.Gly421Arg)
c.1264G>C (p.Gly422Arg)
c.1240G>C (p.Gly414Arg)
c.1267G>C (p.Gly423Arg)
c.1219G>C (p.Gly407Arg)
c.1252G>C (p.Gly418Arg)
c.1321G>C (p.Gly441Arg)
c.1300G>C (p.Gly434Arg)
c.1297G>C (p.Gly433Arg)
c.1279G>C (p.Gly427Arg)
c.1243G>C (p.Gly415Arg)
c.1222G>C (p.Gly408Arg)
c.421+30597C>G (n.421+30597C>G)
n.440+30597C>G
n.242+37992C>G
c.985G>C (p.Gly329Arg)
c.1399G>C (p.Gly467Arg)
6g.32293406C>TCA136929565TSBP1,TSBP1-AS1c.1261G>A (p.Gly421Arg)
c.1264G>A (p.Gly422Arg)
c.1240G>A (p.Gly414Arg)
c.1267G>A (p.Gly423Arg)
c.1219G>A (p.Gly407Arg)
c.1252G>A (p.Gly418Arg)
c.1321G>A (p.Gly441Arg)
c.1300G>A (p.Gly434Arg)
c.1297G>A (p.Gly433Arg)
c.1279G>A (p.Gly427Arg)
c.1243G>A (p.Gly415Arg)
c.1222G>A (p.Gly408Arg)
c.421+30597C>T (n.421+30597C>T)
n.440+30597C>T
n.242+37992C>T
c.985G>A (p.Gly329Arg)
c.1399G>A (p.Gly467Arg)
 dbSNP
6g.32293406_32293407delinsCTCA1619500818TSBP1,TSBP1-AS1c.1260_1261delinsAG (p.Lys420=)
c.1263_1264delinsAG (p.Lys421=)
c.1239_1240delinsAG (p.Lys413=)
c.1266_1267delinsAG (p.Lys422=)
c.1218_1219delinsAG (p.Lys406=)
c.1251_1252delinsAG (p.Lys417=)
c.1320_1321delinsAG (p.Lys440=)
c.1299_1300delinsAG (p.Lys433=)
c.1296_1297delinsAG (p.Lys432=)
c.1278_1279delinsAG (p.Lys426=)
c.1242_1243delinsAG (p.Lys414=)
c.1221_1222delinsAG (p.Lys407=)
c.421+30597_421+30598delinsCT (n.421+30597_421+30598delinsCT)
n.440+30597_440+30598delinsCT
n.242+37992_242+37993delinsCT
c.984_985delinsAG (p.Lys328=)
c.1398_1399delinsAG (p.Lys466=)
6g.32293407T>ACA363561563TSBP1,TSBP1-AS1c.1260A>T (p.Lys420Asn)
c.1263A>T (p.Lys421Asn)
c.1239A>T (p.Lys413Asn)
c.1266A>T (p.Lys422Asn)
c.1218A>T (p.Lys406Asn)
c.1251A>T (p.Lys417Asn)
c.1320A>T (p.Lys440Asn)
c.1299A>T (p.Lys433Asn)
c.1296A>T (p.Lys432Asn)
c.1278A>T (p.Lys426Asn)
c.1242A>T (p.Lys414Asn)
c.1221A>T (p.Lys407Asn)
c.421+30598T>A (n.421+30598T>A)
n.440+30598T>A
n.242+37993T>A
c.984A>T (p.Lys328Asn)
c.1398A>T (p.Lys466Asn)
6g.32293407T>CCA449829492TSBP1,TSBP1-AS1c.1260A>G (p.Lys420=)
c.1263A>G (p.Lys421=)
c.1239A>G (p.Lys413=)
c.1266A>G (p.Lys422=)
c.1218A>G (p.Lys406=)
c.1251A>G (p.Lys417=)
c.1320A>G (p.Lys440=)
c.1299A>G (p.Lys433=)
c.1296A>G (p.Lys432=)
c.1278A>G (p.Lys426=)
c.1242A>G (p.Lys414=)
c.1221A>G (p.Lys407=)
c.421+30598T>C (n.421+30598T>C)
n.440+30598T>C
n.242+37993T>C
c.984A>G (p.Lys328=)
c.1398A>G (p.Lys466=)
6g.32293407T>GCA363561564TSBP1,TSBP1-AS1c.1260A>C (p.Lys420Asn)
c.1263A>C (p.Lys421Asn)
c.1239A>C (p.Lys413Asn)
c.1266A>C (p.Lys422Asn)
c.1218A>C (p.Lys406Asn)
c.1251A>C (p.Lys417Asn)
c.1320A>C (p.Lys440Asn)
c.1299A>C (p.Lys433Asn)
c.1296A>C (p.Lys432Asn)
c.1278A>C (p.Lys426Asn)
c.1242A>C (p.Lys414Asn)
c.1221A>C (p.Lys407Asn)
c.421+30598T>G (n.421+30598T>G)
n.440+30598T>G
n.242+37993T>G
c.984A>C (p.Lys328Asn)
c.1398A>C (p.Lys466Asn)
6g.32293410delCA3740503TSBP1,TSBP1-AS1c.1260del (p.Gly421AspfsTer6)
c.1263del (p.Gly422AspfsTer6)
c.1239del (p.Gly414AspfsTer6)
c.1266del (p.Gly423AspfsTer6)
c.1218del (p.Gly407AspfsTer6)
c.1251del (p.Gly418AspfsTer6)
c.1320del (p.Gly441AspfsTer6)
c.1299del (p.Gly434AspfsTer6)
c.1296del (p.Gly433AspfsTer6)
c.1278del (p.Gly427AspfsTer6)
c.1242del (p.Gly415AspfsTer6)
c.1221del (p.Gly408AspfsTer6)
c.421+30601del (n.421+30601del)
n.440+30601del
n.242+37996del
c.984del (p.Gly329AspfsTer6)
c.1398del (p.Gly467AspfsTer6)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293408T>ACA363561567TSBP1,TSBP1-AS1c.1259A>T (p.Lys420Ile)
c.1262A>T (p.Lys421Ile)
c.1238A>T (p.Lys413Ile)
c.1265A>T (p.Lys422Ile)
c.1217A>T (p.Lys406Ile)
c.1250A>T (p.Lys417Ile)
c.1319A>T (p.Lys440Ile)
c.1298A>T (p.Lys433Ile)
c.1295A>T (p.Lys432Ile)
c.1277A>T (p.Lys426Ile)
c.1241A>T (p.Lys414Ile)
c.1220A>T (p.Lys407Ile)
c.421+30599T>A (n.421+30599T>A)
n.440+30599T>A
n.242+37994T>A
c.983A>T (p.Lys328Ile)
c.1397A>T (p.Lys466Ile)
6g.32293408T>CCA363561566TSBP1,TSBP1-AS1c.1259A>G (p.Lys420Arg)
c.1262A>G (p.Lys421Arg)
c.1238A>G (p.Lys413Arg)
c.1265A>G (p.Lys422Arg)
c.1217A>G (p.Lys406Arg)
c.1250A>G (p.Lys417Arg)
c.1319A>G (p.Lys440Arg)
c.1298A>G (p.Lys433Arg)
c.1295A>G (p.Lys432Arg)
c.1277A>G (p.Lys426Arg)
c.1241A>G (p.Lys414Arg)
c.1220A>G (p.Lys407Arg)
c.421+30599T>C (n.421+30599T>C)
n.440+30599T>C
n.242+37994T>C
c.983A>G (p.Lys328Arg)
c.1397A>G (p.Lys466Arg)
6g.32293408T>GCA363561565TSBP1,TSBP1-AS1c.1259A>C (p.Lys420Thr)
c.1262A>C (p.Lys421Thr)
c.1238A>C (p.Lys413Thr)
c.1265A>C (p.Lys422Thr)
c.1217A>C (p.Lys406Thr)
c.1250A>C (p.Lys417Thr)
c.1319A>C (p.Lys440Thr)
c.1298A>C (p.Lys433Thr)
c.1295A>C (p.Lys432Thr)
c.1277A>C (p.Lys426Thr)
c.1241A>C (p.Lys414Thr)
c.1220A>C (p.Lys407Thr)
c.421+30599T>G (n.421+30599T>G)
n.440+30599T>G
n.242+37994T>G
c.983A>C (p.Lys328Thr)
c.1397A>C (p.Lys466Thr)
6g.32293409T>ACA363561568TSBP1,TSBP1-AS1c.1258A>T (p.Lys420Ter)
c.1261A>T (p.Lys421Ter)
c.1237A>T (p.Lys413Ter)
c.1264A>T (p.Lys422Ter)
c.1216A>T (p.Lys406Ter)
c.1249A>T (p.Lys417Ter)
c.1318A>T (p.Lys440Ter)
c.1297A>T (p.Lys433Ter)
c.1294A>T (p.Lys432Ter)
c.1276A>T (p.Lys426Ter)
c.1240A>T (p.Lys414Ter)
c.1219A>T (p.Lys407Ter)
c.421+30600T>A (n.421+30600T>A)
n.440+30600T>A
n.242+37995T>A
c.982A>T (p.Lys328Ter)
c.1396A>T (p.Lys466Ter)
6g.32293409T>CCA136929566TSBP1,TSBP1-AS1c.1258A>G (p.Lys420Glu)
c.1261A>G (p.Lys421Glu)
c.1237A>G (p.Lys413Glu)
c.1264A>G (p.Lys422Glu)
c.1216A>G (p.Lys406Glu)
c.1249A>G (p.Lys417Glu)
c.1318A>G (p.Lys440Glu)
c.1297A>G (p.Lys433Glu)
c.1294A>G (p.Lys432Glu)
c.1276A>G (p.Lys426Glu)
c.1240A>G (p.Lys414Glu)
c.1219A>G (p.Lys407Glu)
c.421+30600T>C (n.421+30600T>C)
n.440+30600T>C
n.242+37995T>C
c.982A>G (p.Lys328Glu)
c.1396A>G (p.Lys466Glu)
 dbSNP gnomAD v4
6g.32293409T>GCA363561569TSBP1,TSBP1-AS1c.1258A>C (p.Lys420Gln)
c.1261A>C (p.Lys421Gln)
c.1237A>C (p.Lys413Gln)
c.1264A>C (p.Lys422Gln)
c.1216A>C (p.Lys406Gln)
c.1249A>C (p.Lys417Gln)
c.1318A>C (p.Lys440Gln)
c.1297A>C (p.Lys433Gln)
c.1294A>C (p.Lys432Gln)
c.1276A>C (p.Lys426Gln)
c.1240A>C (p.Lys414Gln)
c.1219A>C (p.Lys407Gln)
c.421+30600T>G (n.421+30600T>G)
n.440+30600T>G
n.242+37995T>G
c.982A>C (p.Lys328Gln)
c.1396A>C (p.Lys466Gln)
6g.32293409T=CA1619500820TSBP1,TSBP1-AS1c.1258A= (p.Lys420=)
c.1261A= (p.Lys421=)
c.1237A= (p.Lys413=)
c.1264A= (p.Lys422=)
c.1216A= (p.Lys406=)
c.1249A= (p.Lys417=)
c.1318A= (p.Lys440=)
c.1297A= (p.Lys433=)
c.1294A= (p.Lys432=)
c.1276A= (p.Lys426=)
c.1240A= (p.Lys414=)
c.1219A= (p.Lys407=)
c.421+30600T= (n.421+30600T=)
n.440+30600T=
n.242+37995T=
c.982A= (p.Lys328=)
c.1396A= (p.Lys466=)
6g.32293410T>ACA449829497TSBP1,TSBP1-AS1c.1257A>T (p.Pro419=)
c.1260A>T (p.Pro420=)
c.1236A>T (p.Pro412=)
c.1263A>T (p.Pro421=)
c.1215A>T (p.Pro405=)
c.1248A>T (p.Pro416=)
c.1317A>T (p.Pro439=)
c.1296A>T (p.Pro432=)
c.1293A>T (p.Pro431=)
c.1275A>T (p.Pro425=)
c.1239A>T (p.Pro413=)
c.1218A>T (p.Pro406=)
c.421+30601T>A (n.421+30601T>A)
n.440+30601T>A
n.242+37996T>A
c.981A>T (p.Pro327=)
c.1395A>T (p.Pro465=)
6g.32293410T>CCA449829499TSBP1,TSBP1-AS1c.1257A>G (p.Pro419=)
c.1260A>G (p.Pro420=)
c.1236A>G (p.Pro412=)
c.1263A>G (p.Pro421=)
c.1215A>G (p.Pro405=)
c.1248A>G (p.Pro416=)
c.1317A>G (p.Pro439=)
c.1296A>G (p.Pro432=)
c.1293A>G (p.Pro431=)
c.1275A>G (p.Pro425=)
c.1239A>G (p.Pro413=)
c.1218A>G (p.Pro406=)
c.421+30601T>C (n.421+30601T>C)
n.440+30601T>C
n.242+37996T>C
c.981A>G (p.Pro327=)
c.1395A>G (p.Pro465=)
6g.32293410T>GCA449829500TSBP1,TSBP1-AS1c.1257A>C (p.Pro419=)
c.1260A>C (p.Pro420=)
c.1236A>C (p.Pro412=)
c.1263A>C (p.Pro421=)
c.1215A>C (p.Pro405=)
c.1248A>C (p.Pro416=)
c.1317A>C (p.Pro439=)
c.1296A>C (p.Pro432=)
c.1293A>C (p.Pro431=)
c.1275A>C (p.Pro425=)
c.1239A>C (p.Pro413=)
c.1218A>C (p.Pro406=)
c.421+30601T>G (n.421+30601T>G)
n.440+30601T>G
n.242+37996T>G
c.981A>C (p.Pro327=)
c.1395A>C (p.Pro465=)
6g.32293411G>ACA363561570TSBP1,TSBP1-AS1c.1256C>T (p.Pro419Leu)
c.1259C>T (p.Pro420Leu)
c.1235C>T (p.Pro412Leu)
c.1262C>T (p.Pro421Leu)
c.1214C>T (p.Pro405Leu)
c.1247C>T (p.Pro416Leu)
c.1316C>T (p.Pro439Leu)
c.1295C>T (p.Pro432Leu)
c.1292C>T (p.Pro431Leu)
c.1274C>T (p.Pro425Leu)
c.1238C>T (p.Pro413Leu)
c.1217C>T (p.Pro406Leu)
c.421+30602G>A (n.421+30602G>A)
n.440+30602G>A
n.242+37997G>A
c.980C>T (p.Pro327Leu)
c.1394C>T (p.Pro465Leu)
6g.32293411G>CCA363561571TSBP1,TSBP1-AS1c.1256C>G (p.Pro419Arg)
c.1259C>G (p.Pro420Arg)
c.1235C>G (p.Pro412Arg)
c.1262C>G (p.Pro421Arg)
c.1214C>G (p.Pro405Arg)
c.1247C>G (p.Pro416Arg)
c.1316C>G (p.Pro439Arg)
c.1295C>G (p.Pro432Arg)
c.1292C>G (p.Pro431Arg)
c.1274C>G (p.Pro425Arg)
c.1238C>G (p.Pro413Arg)
c.1217C>G (p.Pro406Arg)
c.421+30602G>C (n.421+30602G>C)
n.440+30602G>C
n.242+37997G>C
c.980C>G (p.Pro327Arg)
c.1394C>G (p.Pro465Arg)
6g.32293411G>TCA363561572TSBP1,TSBP1-AS1c.1256C>A (p.Pro419Gln)
c.1259C>A (p.Pro420Gln)
c.1235C>A (p.Pro412Gln)
c.1262C>A (p.Pro421Gln)
c.1214C>A (p.Pro405Gln)
c.1247C>A (p.Pro416Gln)
c.1316C>A (p.Pro439Gln)
c.1295C>A (p.Pro432Gln)
c.1292C>A (p.Pro431Gln)
c.1274C>A (p.Pro425Gln)
c.1238C>A (p.Pro413Gln)
c.1217C>A (p.Pro406Gln)
c.421+30602G>T (n.421+30602G>T)
n.440+30602G>T
n.242+37997G>T
c.980C>A (p.Pro327Gln)
c.1394C>A (p.Pro465Gln)
6g.32293412delCA2711370648TSBP1,TSBP1-AS1c.1256del (p.Pro419GlnfsTer8)
c.1259del (p.Pro420GlnfsTer8)
c.1235del (p.Pro412GlnfsTer8)
c.1262del (p.Pro421GlnfsTer8)
c.1214del (p.Pro405GlnfsTer8)
c.1247del (p.Pro416GlnfsTer8)
c.1316del (p.Pro439GlnfsTer8)
c.1295del (p.Pro432GlnfsTer8)
c.1292del (p.Pro431GlnfsTer8)
c.1274del (p.Pro425GlnfsTer8)
c.1238del (p.Pro413GlnfsTer8)
c.1217del (p.Pro406GlnfsTer8)
c.421+30603del (n.421+30603del)
n.440+30603del
n.242+37998del
c.980del (p.Pro327GlnfsTer8)
c.1394del (p.Pro465GlnfsTer8)
 dbSNP
6g.32293412G>ACA363561573TSBP1,TSBP1-AS1c.1255C>T (p.Pro419Ser)
c.1258C>T (p.Pro420Ser)
c.1234C>T (p.Pro412Ser)
c.1261C>T (p.Pro421Ser)
c.1213C>T (p.Pro405Ser)
c.1246C>T (p.Pro416Ser)
c.1315C>T (p.Pro439Ser)
c.1294C>T (p.Pro432Ser)
c.1291C>T (p.Pro431Ser)
c.1273C>T (p.Pro425Ser)
c.1237C>T (p.Pro413Ser)
c.1216C>T (p.Pro406Ser)
c.421+30603G>A (n.421+30603G>A)
n.440+30603G>A
n.242+37998G>A
c.979C>T (p.Pro327Ser)
c.1393C>T (p.Pro465Ser)
6g.32293412G>CCA363561574TSBP1,TSBP1-AS1c.1255C>G (p.Pro419Ala)
c.1258C>G (p.Pro420Ala)
c.1234C>G (p.Pro412Ala)
c.1261C>G (p.Pro421Ala)
c.1213C>G (p.Pro405Ala)
c.1246C>G (p.Pro416Ala)
c.1315C>G (p.Pro439Ala)
c.1294C>G (p.Pro432Ala)
c.1291C>G (p.Pro431Ala)
c.1273C>G (p.Pro425Ala)
c.1237C>G (p.Pro413Ala)
c.1216C>G (p.Pro406Ala)
c.421+30603G>C (n.421+30603G>C)
n.440+30603G>C
n.242+37998G>C
c.979C>G (p.Pro327Ala)
c.1393C>G (p.Pro465Ala)
6g.32293412G>TCA363561575TSBP1,TSBP1-AS1c.1255C>A (p.Pro419Thr)
c.1258C>A (p.Pro420Thr)
c.1234C>A (p.Pro412Thr)
c.1261C>A (p.Pro421Thr)
c.1213C>A (p.Pro405Thr)
c.1246C>A (p.Pro416Thr)
c.1315C>A (p.Pro439Thr)
c.1294C>A (p.Pro432Thr)
c.1291C>A (p.Pro431Thr)
c.1273C>A (p.Pro425Thr)
c.1237C>A (p.Pro413Thr)
c.1216C>A (p.Pro406Thr)
c.421+30603G>T (n.421+30603G>T)
n.440+30603G>T
n.242+37998G>T
c.979C>A (p.Pro327Thr)
c.1393C>A (p.Pro465Thr)
 COSMIC
6g.32293413T>ACA449829506TSBP1,TSBP1-AS1c.1254A>T (p.Val418=)
c.1257A>T (p.Val419=)
c.1233A>T (p.Val411=)
c.1260A>T (p.Val420=)
c.1212A>T (p.Val404=)
c.1245A>T (p.Val415=)
c.1314A>T (p.Val438=)
c.1293A>T (p.Val431=)
c.1290A>T (p.Val430=)
c.1272A>T (p.Val424=)
c.1236A>T (p.Val412=)
c.1215A>T (p.Val405=)
c.421+30604T>A (n.421+30604T>A)
n.440+30604T>A
n.242+37999T>A
c.978A>T (p.Val326=)
c.1392A>T (p.Val464=)
6g.32293413T>CCA449829508TSBP1,TSBP1-AS1c.1254A>G (p.Val418=)
c.1257A>G (p.Val419=)
c.1233A>G (p.Val411=)
c.1260A>G (p.Val420=)
c.1212A>G (p.Val404=)
c.1245A>G (p.Val415=)
c.1314A>G (p.Val438=)
c.1293A>G (p.Val431=)
c.1290A>G (p.Val430=)
c.1272A>G (p.Val424=)
c.1236A>G (p.Val412=)
c.1215A>G (p.Val405=)
c.421+30604T>C (n.421+30604T>C)
n.440+30604T>C
n.242+37999T>C
c.978A>G (p.Val326=)
c.1392A>G (p.Val464=)
6g.32293413T>GCA449829509TSBP1,TSBP1-AS1c.1254A>C (p.Val418=)
c.1257A>C (p.Val419=)
c.1233A>C (p.Val411=)
c.1260A>C (p.Val420=)
c.1212A>C (p.Val404=)
c.1245A>C (p.Val415=)
c.1314A>C (p.Val438=)
c.1293A>C (p.Val431=)
c.1290A>C (p.Val430=)
c.1272A>C (p.Val424=)
c.1236A>C (p.Val412=)
c.1215A>C (p.Val405=)
c.421+30604T>G (n.421+30604T>G)
n.440+30604T>G
n.242+37999T>G
c.978A>C (p.Val326=)
c.1392A>C (p.Val464=)
6g.32293414A=CA1619500821TSBP1,TSBP1-AS1c.1253T= (p.Val418=)
c.1256T= (p.Val419=)
c.1232T= (p.Val411=)
c.1259T= (p.Val420=)
c.1211T= (p.Val404=)
c.1244T= (p.Val415=)
c.1313T= (p.Val438=)
c.1292T= (p.Val431=)
c.1289T= (p.Val430=)
c.1271T= (p.Val424=)
c.1235T= (p.Val412=)
c.1214T= (p.Val405=)
c.421+30605A= (n.421+30605A=)
n.440+30605A=
n.242+38000A=
c.977T= (p.Val326=)
c.1391T= (p.Val464=)
6g.32293414A>CCA3740504TSBP1,TSBP1-AS1c.1253T>G (p.Val418Gly)
c.1256T>G (p.Val419Gly)
c.1232T>G (p.Val411Gly)
c.1259T>G (p.Val420Gly)
c.1211T>G (p.Val404Gly)
c.1244T>G (p.Val415Gly)
c.1313T>G (p.Val438Gly)
c.1292T>G (p.Val431Gly)
c.1289T>G (p.Val430Gly)
c.1271T>G (p.Val424Gly)
c.1235T>G (p.Val412Gly)
c.1214T>G (p.Val405Gly)
c.421+30605A>C (n.421+30605A>C)
n.440+30605A>C
n.242+38000A>C
c.977T>G (p.Val326Gly)
c.1391T>G (p.Val464Gly)
 dbSNP ExAC gnomAD v2
6g.32293414A>GCA363561576TSBP1,TSBP1-AS1c.1253T>C (p.Val418Ala)
c.1256T>C (p.Val419Ala)
c.1232T>C (p.Val411Ala)
c.1259T>C (p.Val420Ala)
c.1211T>C (p.Val404Ala)
c.1244T>C (p.Val415Ala)
c.1313T>C (p.Val438Ala)
c.1292T>C (p.Val431Ala)
c.1289T>C (p.Val430Ala)
c.1271T>C (p.Val424Ala)
c.1235T>C (p.Val412Ala)
c.1214T>C (p.Val405Ala)
c.421+30605A>G (n.421+30605A>G)
n.440+30605A>G
n.242+38000A>G
c.977T>C (p.Val326Ala)
c.1391T>C (p.Val464Ala)
6g.32293414A>TCA363561577TSBP1,TSBP1-AS1c.1253T>A (p.Val418Glu)
c.1256T>A (p.Val419Glu)
c.1232T>A (p.Val411Glu)
c.1259T>A (p.Val420Glu)
c.1211T>A (p.Val404Glu)
c.1244T>A (p.Val415Glu)
c.1313T>A (p.Val438Glu)
c.1292T>A (p.Val431Glu)
c.1289T>A (p.Val430Glu)
c.1271T>A (p.Val424Glu)
c.1235T>A (p.Val412Glu)
c.1214T>A (p.Val405Glu)
c.421+30605A>T (n.421+30605A>T)
n.440+30605A>T
n.242+38000A>T
c.977T>A (p.Val326Glu)
c.1391T>A (p.Val464Glu)
6g.32293415C>ACA3740505TSBP1,TSBP1-AS1c.1252G>T (p.Val418Leu)
c.1255G>T (p.Val419Leu)
c.1231G>T (p.Val411Leu)
c.1258G>T (p.Val420Leu)
c.1210G>T (p.Val404Leu)
c.1243G>T (p.Val415Leu)
c.1312G>T (p.Val438Leu)
c.1291G>T (p.Val431Leu)
c.1288G>T (p.Val430Leu)
c.1270G>T (p.Val424Leu)
c.1234G>T (p.Val412Leu)
c.1213G>T (p.Val405Leu)
c.421+30606C>A (n.421+30606C>A)
n.440+30606C>A
n.242+38001C>A
c.976G>T (p.Val326Leu)
c.1390G>T (p.Val464Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293415C=CA1619500822TSBP1,TSBP1-AS1c.1252G= (p.Val418=)
c.1255G= (p.Val419=)
c.1231G= (p.Val411=)
c.1258G= (p.Val420=)
c.1210G= (p.Val404=)
c.1243G= (p.Val415=)
c.1312G= (p.Val438=)
c.1291G= (p.Val431=)
c.1288G= (p.Val430=)
c.1270G= (p.Val424=)
c.1234G= (p.Val412=)
c.1213G= (p.Val405=)
c.421+30606C= (n.421+30606C=)
n.440+30606C=
n.242+38001C=
c.976G= (p.Val326=)
c.1390G= (p.Val464=)
6g.32293415C>GCA363561579TSBP1,TSBP1-AS1c.1252G>C (p.Val418Leu)
c.1255G>C (p.Val419Leu)
c.1231G>C (p.Val411Leu)
c.1258G>C (p.Val420Leu)
c.1210G>C (p.Val404Leu)
c.1243G>C (p.Val415Leu)
c.1312G>C (p.Val438Leu)
c.1291G>C (p.Val431Leu)
c.1288G>C (p.Val430Leu)
c.1270G>C (p.Val424Leu)
c.1234G>C (p.Val412Leu)
c.1213G>C (p.Val405Leu)
c.421+30606C>G (n.421+30606C>G)
n.440+30606C>G
n.242+38001C>G
c.976G>C (p.Val326Leu)
c.1390G>C (p.Val464Leu)
 gnomAD v4
6g.32293415C>TCA363561578TSBP1,TSBP1-AS1c.1252G>A (p.Val418Ile)
c.1255G>A (p.Val419Ile)
c.1231G>A (p.Val411Ile)
c.1258G>A (p.Val420Ile)
c.1210G>A (p.Val404Ile)
c.1243G>A (p.Val415Ile)
c.1312G>A (p.Val438Ile)
c.1291G>A (p.Val431Ile)
c.1288G>A (p.Val430Ile)
c.1270G>A (p.Val424Ile)
c.1234G>A (p.Val412Ile)
c.1213G>A (p.Val405Ile)
c.421+30606C>T (n.421+30606C>T)
n.440+30606C>T
n.242+38001C>T
c.976G>A (p.Val326Ile)
c.1390G>A (p.Val464Ile)
 gnomAD v4
6g.32293416C>ACA363561580TSBP1,TSBP1-AS1c.1251G>T (p.Lys417Asn)
c.1254G>T (p.Lys418Asn)
c.1230G>T (p.Lys410Asn)
c.1257G>T (p.Lys419Asn)
c.1209G>T (p.Lys403Asn)
c.1242G>T (p.Lys414Asn)
c.1311G>T (p.Lys437Asn)
c.1290G>T (p.Lys430Asn)
c.1287G>T (p.Lys429Asn)
c.1269G>T (p.Lys423Asn)
c.1233G>T (p.Lys411Asn)
c.1212G>T (p.Lys404Asn)
c.421+30607C>A (n.421+30607C>A)
n.440+30607C>A
n.242+38002C>A
c.975G>T (p.Lys325Asn)
c.1389G>T (p.Lys463Asn)
 dbSNP gnomAD v3 gnomAD v4
6g.32293416C=CA1619500823TSBP1,TSBP1-AS1c.1251G= (p.Lys417=)
c.1254G= (p.Lys418=)
c.1230G= (p.Lys410=)
c.1257G= (p.Lys419=)
c.1209G= (p.Lys403=)
c.1242G= (p.Lys414=)
c.1311G= (p.Lys437=)
c.1290G= (p.Lys430=)
c.1287G= (p.Lys429=)
c.1269G= (p.Lys423=)
c.1233G= (p.Lys411=)
c.1212G= (p.Lys404=)
c.421+30607C= (n.421+30607C=)
n.440+30607C=
n.242+38002C=
c.975G= (p.Lys325=)
c.1389G= (p.Lys463=)
6g.32293416C>GCA363561581TSBP1,TSBP1-AS1c.1251G>C (p.Lys417Asn)
c.1254G>C (p.Lys418Asn)
c.1230G>C (p.Lys410Asn)
c.1257G>C (p.Lys419Asn)
c.1209G>C (p.Lys403Asn)
c.1242G>C (p.Lys414Asn)
c.1311G>C (p.Lys437Asn)
c.1290G>C (p.Lys430Asn)
c.1287G>C (p.Lys429Asn)
c.1269G>C (p.Lys423Asn)
c.1233G>C (p.Lys411Asn)
c.1212G>C (p.Lys404Asn)
c.421+30607C>G (n.421+30607C>G)
n.440+30607C>G
n.242+38002C>G
c.975G>C (p.Lys325Asn)
c.1389G>C (p.Lys463Asn)
6g.32293416C>TCA449829514TSBP1,TSBP1-AS1c.1251G>A (p.Lys417=)
c.1254G>A (p.Lys418=)
c.1230G>A (p.Lys410=)
c.1257G>A (p.Lys419=)
c.1209G>A (p.Lys403=)
c.1242G>A (p.Lys414=)
c.1311G>A (p.Lys437=)
c.1290G>A (p.Lys430=)
c.1287G>A (p.Lys429=)
c.1269G>A (p.Lys423=)
c.1233G>A (p.Lys411=)
c.1212G>A (p.Lys404=)
c.421+30607C>T (n.421+30607C>T)
n.440+30607C>T
n.242+38002C>T
c.975G>A (p.Lys325=)
c.1389G>A (p.Lys463=)
 gnomAD v4
6g.32293417T>ACA363561582TSBP1,TSBP1-AS1c.1250A>T (p.Lys417Met)
c.1253A>T (p.Lys418Met)
c.1229A>T (p.Lys410Met)
c.1256A>T (p.Lys419Met)
c.1208A>T (p.Lys403Met)
c.1241A>T (p.Lys414Met)
c.1310A>T (p.Lys437Met)
c.1289A>T (p.Lys430Met)
c.1286A>T (p.Lys429Met)
c.1268A>T (p.Lys423Met)
c.1232A>T (p.Lys411Met)
c.1211A>T (p.Lys404Met)
c.421+30608T>A (n.421+30608T>A)
n.440+30608T>A
n.242+38003T>A
c.974A>T (p.Lys325Met)
c.1388A>T (p.Lys463Met)
6g.32293417T>CCA363561583TSBP1,TSBP1-AS1c.1250A>G (p.Lys417Arg)
c.1253A>G (p.Lys418Arg)
c.1229A>G (p.Lys410Arg)
c.1256A>G (p.Lys419Arg)
c.1208A>G (p.Lys403Arg)
c.1241A>G (p.Lys414Arg)
c.1310A>G (p.Lys437Arg)
c.1289A>G (p.Lys430Arg)
c.1286A>G (p.Lys429Arg)
c.1268A>G (p.Lys423Arg)
c.1232A>G (p.Lys411Arg)
c.1211A>G (p.Lys404Arg)
c.421+30608T>C (n.421+30608T>C)
n.440+30608T>C
n.242+38003T>C
c.974A>G (p.Lys325Arg)
c.1388A>G (p.Lys463Arg)
6g.32293417T>GCA363561584TSBP1,TSBP1-AS1c.1250A>C (p.Lys417Thr)
c.1253A>C (p.Lys418Thr)
c.1229A>C (p.Lys410Thr)
c.1256A>C (p.Lys419Thr)
c.1208A>C (p.Lys403Thr)
c.1241A>C (p.Lys414Thr)
c.1310A>C (p.Lys437Thr)
c.1289A>C (p.Lys430Thr)
c.1286A>C (p.Lys429Thr)
c.1268A>C (p.Lys423Thr)
c.1232A>C (p.Lys411Thr)
c.1211A>C (p.Lys404Thr)
c.421+30608T>G (n.421+30608T>G)
n.440+30608T>G
n.242+38003T>G
c.974A>C (p.Lys325Thr)
c.1388A>C (p.Lys463Thr)
6g.32293418T>ACA363561585TSBP1,TSBP1-AS1c.1249A>T (p.Lys417Ter)
c.1252A>T (p.Lys418Ter)
c.1228A>T (p.Lys410Ter)
c.1255A>T (p.Lys419Ter)
c.1207A>T (p.Lys403Ter)
c.1240A>T (p.Lys414Ter)
c.1309A>T (p.Lys437Ter)
c.1288A>T (p.Lys430Ter)
c.1285A>T (p.Lys429Ter)
c.1267A>T (p.Lys423Ter)
c.1231A>T (p.Lys411Ter)
c.1210A>T (p.Lys404Ter)
c.421+30609T>A (n.421+30609T>A)
n.440+30609T>A
n.242+38004T>A
c.973A>T (p.Lys325Ter)
c.1387A>T (p.Lys463Ter)
6g.32293418T>CCA363561586TSBP1,TSBP1-AS1c.1249A>G (p.Lys417Glu)
c.1252A>G (p.Lys418Glu)
c.1228A>G (p.Lys410Glu)
c.1255A>G (p.Lys419Glu)
c.1207A>G (p.Lys403Glu)
c.1240A>G (p.Lys414Glu)
c.1309A>G (p.Lys437Glu)
c.1288A>G (p.Lys430Glu)
c.1285A>G (p.Lys429Glu)
c.1267A>G (p.Lys423Glu)
c.1231A>G (p.Lys411Glu)
c.1210A>G (p.Lys404Glu)
c.421+30609T>C (n.421+30609T>C)
n.440+30609T>C
n.242+38004T>C
c.973A>G (p.Lys325Glu)
c.1387A>G (p.Lys463Glu)
6g.32293418T>GCA363561587TSBP1,TSBP1-AS1c.1249A>C (p.Lys417Gln)
c.1252A>C (p.Lys418Gln)
c.1228A>C (p.Lys410Gln)
c.1255A>C (p.Lys419Gln)
c.1207A>C (p.Lys403Gln)
c.1240A>C (p.Lys414Gln)
c.1309A>C (p.Lys437Gln)
c.1288A>C (p.Lys430Gln)
c.1285A>C (p.Lys429Gln)
c.1267A>C (p.Lys423Gln)
c.1231A>C (p.Lys411Gln)
c.1210A>C (p.Lys404Gln)
c.421+30609T>G (n.421+30609T>G)
n.440+30609T>G
n.242+38004T>G
c.973A>C (p.Lys325Gln)
c.1387A>C (p.Lys463Gln)
6g.32293419C>ACA363561588TSBP1,TSBP1-AS1c.1248G>T (p.Leu416Phe)
c.1251G>T (p.Leu417Phe)
c.1227G>T (p.Leu409Phe)
c.1254G>T (p.Leu418Phe)
c.1206G>T (p.Leu402Phe)
c.1239G>T (p.Leu413Phe)
c.1308G>T (p.Leu436Phe)
c.1287G>T (p.Leu429Phe)
c.1284G>T (p.Leu428Phe)
c.1266G>T (p.Leu422Phe)
c.1230G>T (p.Leu410Phe)
c.1209G>T (p.Leu403Phe)
c.421+30610C>A (n.421+30610C>A)
n.440+30610C>A
n.242+38005C>A
c.972G>T (p.Leu324Phe)
c.1386G>T (p.Leu462Phe)
6g.32293419C>GCA363561589TSBP1,TSBP1-AS1c.1248G>C (p.Leu416Phe)
c.1251G>C (p.Leu417Phe)
c.1227G>C (p.Leu409Phe)
c.1254G>C (p.Leu418Phe)
c.1206G>C (p.Leu402Phe)
c.1239G>C (p.Leu413Phe)
c.1308G>C (p.Leu436Phe)
c.1287G>C (p.Leu429Phe)
c.1284G>C (p.Leu428Phe)
c.1266G>C (p.Leu422Phe)
c.1230G>C (p.Leu410Phe)
c.1209G>C (p.Leu403Phe)
c.421+30610C>G (n.421+30610C>G)
n.440+30610C>G
n.242+38005C>G
c.972G>C (p.Leu324Phe)
c.1386G>C (p.Leu462Phe)
6g.32293419C>TCA449829518TSBP1,TSBP1-AS1c.1248G>A (p.Leu416=)
c.1251G>A (p.Leu417=)
c.1227G>A (p.Leu409=)
c.1254G>A (p.Leu418=)
c.1206G>A (p.Leu402=)
c.1239G>A (p.Leu413=)
c.1308G>A (p.Leu436=)
c.1287G>A (p.Leu429=)
c.1284G>A (p.Leu428=)
c.1266G>A (p.Leu422=)
c.1230G>A (p.Leu410=)
c.1209G>A (p.Leu403=)
c.421+30610C>T (n.421+30610C>T)
n.440+30610C>T
n.242+38005C>T
c.972G>A (p.Leu324=)
c.1386G>A (p.Leu462=)
6g.32293420A>CCA363561590TSBP1,TSBP1-AS1c.1247T>G (p.Leu416Trp)
c.1250T>G (p.Leu417Trp)
c.1226T>G (p.Leu409Trp)
c.1253T>G (p.Leu418Trp)
c.1205T>G (p.Leu402Trp)
c.1238T>G (p.Leu413Trp)
c.1307T>G (p.Leu436Trp)
c.1286T>G (p.Leu429Trp)
c.1283T>G (p.Leu428Trp)
c.1265T>G (p.Leu422Trp)
c.1229T>G (p.Leu410Trp)
c.1208T>G (p.Leu403Trp)
c.421+30611A>C (n.421+30611A>C)
n.440+30611A>C
n.242+38006A>C
c.971T>G (p.Leu324Trp)
c.1385T>G (p.Leu462Trp)
6g.32293420A>GCA363561591TSBP1,TSBP1-AS1c.1247T>C (p.Leu416Ser)
c.1250T>C (p.Leu417Ser)
c.1226T>C (p.Leu409Ser)
c.1253T>C (p.Leu418Ser)
c.1205T>C (p.Leu402Ser)
c.1238T>C (p.Leu413Ser)
c.1307T>C (p.Leu436Ser)
c.1286T>C (p.Leu429Ser)
c.1283T>C (p.Leu428Ser)
c.1265T>C (p.Leu422Ser)
c.1229T>C (p.Leu410Ser)
c.1208T>C (p.Leu403Ser)
c.421+30611A>G (n.421+30611A>G)
n.440+30611A>G
n.242+38006A>G
c.971T>C (p.Leu324Ser)
c.1385T>C (p.Leu462Ser)
 gnomAD v4
6g.32293420A>TCA363561592TSBP1,TSBP1-AS1c.1247T>A (p.Leu416Ter)
c.1250T>A (p.Leu417Ter)
c.1226T>A (p.Leu409Ter)
c.1253T>A (p.Leu418Ter)
c.1205T>A (p.Leu402Ter)
c.1238T>A (p.Leu413Ter)
c.1307T>A (p.Leu436Ter)
c.1286T>A (p.Leu429Ter)
c.1283T>A (p.Leu428Ter)
c.1265T>A (p.Leu422Ter)
c.1229T>A (p.Leu410Ter)
c.1208T>A (p.Leu403Ter)
c.421+30611A>T (n.421+30611A>T)
n.440+30611A>T
n.242+38006A>T
c.971T>A (p.Leu324Ter)
c.1385T>A (p.Leu462Ter)
6g.32293421A=CA1619500824TSBP1,TSBP1-AS1c.1246T= (p.Leu416=)
c.1249T= (p.Leu417=)
c.1225T= (p.Leu409=)
c.1252T= (p.Leu418=)
c.1204T= (p.Leu402=)
c.1237T= (p.Leu413=)
c.1306T= (p.Leu436=)
c.1285T= (p.Leu429=)
c.1282T= (p.Leu428=)
c.1264T= (p.Leu422=)
c.1228T= (p.Leu410=)
c.1207T= (p.Leu403=)
c.421+30612A= (n.421+30612A=)
n.440+30612A=
n.242+38007A=
c.970T= (p.Leu324=)
c.1384T= (p.Leu462=)
6g.32293421A>CCA363561594TSBP1,TSBP1-AS1c.1246T>G (p.Leu416Val)
c.1249T>G (p.Leu417Val)
c.1225T>G (p.Leu409Val)
c.1252T>G (p.Leu418Val)
c.1204T>G (p.Leu402Val)
c.1237T>G (p.Leu413Val)
c.1306T>G (p.Leu436Val)
c.1285T>G (p.Leu429Val)
c.1282T>G (p.Leu428Val)
c.1264T>G (p.Leu422Val)
c.1228T>G (p.Leu410Val)
c.1207T>G (p.Leu403Val)
c.421+30612A>C (n.421+30612A>C)
n.440+30612A>C
n.242+38007A>C
c.970T>G (p.Leu324Val)
c.1384T>G (p.Leu462Val)
6g.32293421A>GCA3740506TSBP1,TSBP1-AS1c.1246T>C (p.Leu416=)
c.1249T>C (p.Leu417=)
c.1225T>C (p.Leu409=)
c.1252T>C (p.Leu418=)
c.1204T>C (p.Leu402=)
c.1237T>C (p.Leu413=)
c.1306T>C (p.Leu436=)
c.1285T>C (p.Leu429=)
c.1282T>C (p.Leu428=)
c.1264T>C (p.Leu422=)
c.1228T>C (p.Leu410=)
c.1207T>C (p.Leu403=)
c.421+30612A>G (n.421+30612A>G)
n.440+30612A>G
n.242+38007A>G
c.970T>C (p.Leu324=)
c.1384T>C (p.Leu462=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293421A>TCA363561593TSBP1,TSBP1-AS1c.1246T>A (p.Leu416Met)
c.1249T>A (p.Leu417Met)
c.1225T>A (p.Leu409Met)
c.1252T>A (p.Leu418Met)
c.1204T>A (p.Leu402Met)
c.1237T>A (p.Leu413Met)
c.1306T>A (p.Leu436Met)
c.1285T>A (p.Leu429Met)
c.1282T>A (p.Leu428Met)
c.1264T>A (p.Leu422Met)
c.1228T>A (p.Leu410Met)
c.1207T>A (p.Leu403Met)
c.421+30612A>T (n.421+30612A>T)
n.440+30612A>T
n.242+38007A>T
c.970T>A (p.Leu324Met)
c.1384T>A (p.Leu462Met)
 gnomAD v4
6g.32293422C>ACA363561595TSBP1,TSBP1-AS1c.1245G>T (p.Glu415Asp)
c.1248G>T (p.Glu416Asp)
c.1224G>T (p.Glu408Asp)
c.1251G>T (p.Glu417Asp)
c.1203G>T (p.Glu401Asp)
c.1236G>T (p.Glu412Asp)
c.1305G>T (p.Glu435Asp)
c.1284G>T (p.Glu428Asp)
c.1281G>T (p.Glu427Asp)
c.1263G>T (p.Glu421Asp)
c.1227G>T (p.Glu409Asp)
c.1206G>T (p.Glu402Asp)
c.421+30613C>A (n.421+30613C>A)
n.440+30613C>A
n.242+38008C>A
c.969G>T (p.Glu323Asp)
c.1383G>T (p.Glu461Asp)
6g.32293422C>GCA363561596TSBP1,TSBP1-AS1c.1245G>C (p.Glu415Asp)
c.1248G>C (p.Glu416Asp)
c.1224G>C (p.Glu408Asp)
c.1251G>C (p.Glu417Asp)
c.1203G>C (p.Glu401Asp)
c.1236G>C (p.Glu412Asp)
c.1305G>C (p.Glu435Asp)
c.1284G>C (p.Glu428Asp)
c.1281G>C (p.Glu427Asp)
c.1263G>C (p.Glu421Asp)
c.1227G>C (p.Glu409Asp)
c.1206G>C (p.Glu402Asp)
c.421+30613C>G (n.421+30613C>G)
n.440+30613C>G
n.242+38008C>G
c.969G>C (p.Glu323Asp)
c.1383G>C (p.Glu461Asp)
6g.32293422C>TCA449829525TSBP1,TSBP1-AS1c.1245G>A (p.Glu415=)
c.1248G>A (p.Glu416=)
c.1224G>A (p.Glu408=)
c.1251G>A (p.Glu417=)
c.1203G>A (p.Glu401=)
c.1236G>A (p.Glu412=)
c.1305G>A (p.Glu435=)
c.1284G>A (p.Glu428=)
c.1281G>A (p.Glu427=)
c.1263G>A (p.Glu421=)
c.1227G>A (p.Glu409=)
c.1206G>A (p.Glu402=)
c.421+30613C>T (n.421+30613C>T)
n.440+30613C>T
n.242+38008C>T
c.969G>A (p.Glu323=)
c.1383G>A (p.Glu461=)
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.32293423T>ACA363561597TSBP1,TSBP1-AS1c.1244A>T (p.Glu415Val)
c.1247A>T (p.Glu416Val)
c.1223A>T (p.Glu408Val)
c.1250A>T (p.Glu417Val)
c.1202A>T (p.Glu401Val)
c.1235A>T (p.Glu412Val)
c.1304A>T (p.Glu435Val)
c.1283A>T (p.Glu428Val)
c.1280A>T (p.Glu427Val)
c.1262A>T (p.Glu421Val)
c.1226A>T (p.Glu409Val)
c.1205A>T (p.Glu402Val)
c.421+30614T>A (n.421+30614T>A)
n.440+30614T>A
n.242+38009T>A
c.968A>T (p.Glu323Val)
c.1382A>T (p.Glu461Val)
6g.32293423T>CCA363561598TSBP1,TSBP1-AS1c.1244A>G (p.Glu415Gly)
c.1247A>G (p.Glu416Gly)
c.1223A>G (p.Glu408Gly)
c.1250A>G (p.Glu417Gly)
c.1202A>G (p.Glu401Gly)
c.1235A>G (p.Glu412Gly)
c.1304A>G (p.Glu435Gly)
c.1283A>G (p.Glu428Gly)
c.1280A>G (p.Glu427Gly)
c.1262A>G (p.Glu421Gly)
c.1226A>G (p.Glu409Gly)
c.1205A>G (p.Glu402Gly)
c.421+30614T>C (n.421+30614T>C)
n.440+30614T>C
n.242+38009T>C
c.968A>G (p.Glu323Gly)
c.1382A>G (p.Glu461Gly)
6g.32293423T>GCA3740507TSBP1,TSBP1-AS1c.1244A>C (p.Glu415Ala)
c.1247A>C (p.Glu416Ala)
c.1223A>C (p.Glu408Ala)
c.1250A>C (p.Glu417Ala)
c.1202A>C (p.Glu401Ala)
c.1235A>C (p.Glu412Ala)
c.1304A>C (p.Glu435Ala)
c.1283A>C (p.Glu428Ala)
c.1280A>C (p.Glu427Ala)
c.1262A>C (p.Glu421Ala)
c.1226A>C (p.Glu409Ala)
c.1205A>C (p.Glu402Ala)
c.421+30614T>G (n.421+30614T>G)
n.440+30614T>G
n.242+38009T>G
c.968A>C (p.Glu323Ala)
c.1382A>C (p.Glu461Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32293423T=CA1619500825TSBP1,TSBP1-AS1c.1244A= (p.Glu415=)
c.1247A= (p.Glu416=)
c.1223A= (p.Glu408=)
c.1250A= (p.Glu417=)
c.1202A= (p.Glu401=)
c.1235A= (p.Glu412=)
c.1304A= (p.Glu435=)
c.1283A= (p.Glu428=)
c.1280A= (p.Glu427=)
c.1262A= (p.Glu421=)
c.1226A= (p.Glu409=)
c.1205A= (p.Glu402=)
c.421+30614T= (n.421+30614T=)
n.440+30614T=
n.242+38009T=
c.968A= (p.Glu323=)
c.1382A= (p.Glu461=)
6g.32293424C>ACA363561599TSBP1,TSBP1-AS1c.1243G>T (p.Glu415Ter)
c.1246G>T (p.Glu416Ter)
c.1222G>T (p.Glu408Ter)
c.1249G>T (p.Glu417Ter)
c.1201G>T (p.Glu401Ter)
c.1234G>T (p.Glu412Ter)
c.1303G>T (p.Glu435Ter)
c.1282G>T (p.Glu428Ter)
c.1279G>T (p.Glu427Ter)
c.1261G>T (p.Glu421Ter)
c.1225G>T (p.Glu409Ter)
c.1204G>T (p.Glu402Ter)
c.421+30615C>A (n.421+30615C>A)
n.440+30615C>A
n.242+38010C>A
c.967G>T (p.Glu323Ter)
c.1381G>T (p.Glu461Ter)
 dbSNP gnomAD v2 gnomAD v4
6g.32293424C=CA1619500826TSBP1,TSBP1-AS1c.1243G= (p.Glu415=)
c.1246G= (p.Glu416=)
c.1222G= (p.Glu408=)
c.1249G= (p.Glu417=)
c.1201G= (p.Glu401=)
c.1234G= (p.Glu412=)
c.1303G= (p.Glu435=)
c.1282G= (p.Glu428=)
c.1279G= (p.Glu427=)
c.1261G= (p.Glu421=)
c.1225G= (p.Glu409=)
c.1204G= (p.Glu402=)
c.421+30615C= (n.421+30615C=)
n.440+30615C=
n.242+38010C=
c.967G= (p.Glu323=)
c.1381G= (p.Glu461=)
6g.32293424C>GCA363561600TSBP1,TSBP1-AS1c.1243G>C (p.Glu415Gln)
c.1246G>C (p.Glu416Gln)
c.1222G>C (p.Glu408Gln)
c.1249G>C (p.Glu417Gln)
c.1201G>C (p.Glu401Gln)
c.1234G>C (p.Glu412Gln)
c.1303G>C (p.Glu435Gln)
c.1282G>C (p.Glu428Gln)
c.1279G>C (p.Glu427Gln)
c.1261G>C (p.Glu421Gln)
c.1225G>C (p.Glu409Gln)
c.1204G>C (p.Glu402Gln)
c.421+30615C>G (n.421+30615C>G)
n.440+30615C>G
n.242+38010C>G
c.967G>C (p.Glu323Gln)
c.1381G>C (p.Glu461Gln)
6g.32293424C>TCA363561601TSBP1,TSBP1-AS1c.1243G>A (p.Glu415Lys)
c.1246G>A (p.Glu416Lys)
c.1222G>A (p.Glu408Lys)
c.1249G>A (p.Glu417Lys)
c.1201G>A (p.Glu401Lys)
c.1234G>A (p.Glu412Lys)
c.1303G>A (p.Glu435Lys)
c.1282G>A (p.Glu428Lys)
c.1279G>A (p.Glu427Lys)
c.1261G>A (p.Glu421Lys)
c.1225G>A (p.Glu409Lys)
c.1204G>A (p.Glu402Lys)
c.421+30615C>T (n.421+30615C>T)
n.440+30615C>T
n.242+38010C>T
c.967G>A (p.Glu323Lys)
c.1381G>A (p.Glu461Lys)
6g.32293425A>CCA363561602TSBP1,TSBP1-AS1c.1242T>G (p.Ser414Arg)
c.1245T>G (p.Ser415Arg)
c.1221T>G (p.Ser407Arg)
c.1248T>G (p.Ser416Arg)
c.1200T>G (p.Ser400Arg)
c.1233T>G (p.Ser411Arg)
c.1302T>G (p.Ser434Arg)
c.1281T>G (p.Ser427Arg)
c.1278T>G (p.Ser426Arg)
c.1260T>G (p.Ser420Arg)
c.1224T>G (p.Ser408Arg)
c.1203T>G (p.Ser401Arg)
c.421+30616A>C (n.421+30616A>C)
n.440+30616A>C
n.242+38011A>C
c.966T>G (p.Ser322Arg)
c.1380T>G (p.Ser460Arg)
 gnomAD v3 gnomAD v4
6g.32293425A>GCA449829531TSBP1,TSBP1-AS1c.1242T>C (p.Ser414=)
c.1245T>C (p.Ser415=)
c.1221T>C (p.Ser407=)
c.1248T>C (p.Ser416=)
c.1200T>C (p.Ser400=)
c.1233T>C (p.Ser411=)
c.1302T>C (p.Ser434=)
c.1281T>C (p.Ser427=)
c.1278T>C (p.Ser426=)
c.1260T>C (p.Ser420=)
c.1224T>C (p.Ser408=)
c.1203T>C (p.Ser401=)
c.421+30616A>G (n.421+30616A>G)
n.440+30616A>G
n.242+38011A>G
c.966T>C (p.Ser322=)
c.1380T>C (p.Ser460=)
6g.32293425A>TCA363561603TSBP1,TSBP1-AS1c.1242T>A (p.Ser414Arg)
c.1245T>A (p.Ser415Arg)
c.1221T>A (p.Ser407Arg)
c.1248T>A (p.Ser416Arg)
c.1200T>A (p.Ser400Arg)
c.1233T>A (p.Ser411Arg)
c.1302T>A (p.Ser434Arg)
c.1281T>A (p.Ser427Arg)
c.1278T>A (p.Ser426Arg)
c.1260T>A (p.Ser420Arg)
c.1224T>A (p.Ser408Arg)
c.1203T>A (p.Ser401Arg)
c.421+30616A>T (n.421+30616A>T)
n.440+30616A>T
n.242+38011A>T
c.966T>A (p.Ser322Arg)
c.1380T>A (p.Ser460Arg)
6g.32293426C>ACA363561604TSBP1,TSBP1-AS1c.1241G>T (p.Ser414Ile)
c.1244G>T (p.Ser415Ile)
c.1220G>T (p.Ser407Ile)
c.1247G>T (p.Ser416Ile)
c.1199G>T (p.Ser400Ile)
c.1232G>T (p.Ser411Ile)
c.1301G>T (p.Ser434Ile)
c.1280G>T (p.Ser427Ile)
c.1277G>T (p.Ser426Ile)
c.1259G>T (p.Ser420Ile)
c.1223G>T (p.Ser408Ile)
c.1202G>T (p.Ser401Ile)
c.421+30617C>A (n.421+30617C>A)
n.440+30617C>A
n.242+38012C>A
c.965G>T (p.Ser322Ile)
c.1379G>T (p.Ser460Ile)
6g.32293426C>GCA363561605TSBP1,TSBP1-AS1c.1241G>C (p.Ser414Thr)
c.1244G>C (p.Ser415Thr)
c.1220G>C (p.Ser407Thr)
c.1247G>C (p.Ser416Thr)
c.1199G>C (p.Ser400Thr)
c.1232G>C (p.Ser411Thr)
c.1301G>C (p.Ser434Thr)
c.1280G>C (p.Ser427Thr)
c.1277G>C (p.Ser426Thr)
c.1259G>C (p.Ser420Thr)
c.1223G>C (p.Ser408Thr)
c.1202G>C (p.Ser401Thr)
c.421+30617C>G (n.421+30617C>G)
n.440+30617C>G
n.242+38012C>G
c.965G>C (p.Ser322Thr)
c.1379G>C (p.Ser460Thr)
6g.32293426C>TCA363561606TSBP1,TSBP1-AS1c.1241G>A (p.Ser414Asn)
c.1244G>A (p.Ser415Asn)
c.1220G>A (p.Ser407Asn)
c.1247G>A (p.Ser416Asn)
c.1199G>A (p.Ser400Asn)
c.1232G>A (p.Ser411Asn)
c.1301G>A (p.Ser434Asn)
c.1280G>A (p.Ser427Asn)
c.1277G>A (p.Ser426Asn)
c.1259G>A (p.Ser420Asn)
c.1223G>A (p.Ser408Asn)
c.1202G>A (p.Ser401Asn)
c.421+30617C>T (n.421+30617C>T)
n.440+30617C>T
n.242+38012C>T
c.965G>A (p.Ser322Asn)
c.1379G>A (p.Ser460Asn)
 gnomAD v4
6g.32293427T>ACA363561609TSBP1,TSBP1-AS1c.1240A>T (p.Ser414Cys)
c.1243A>T (p.Ser415Cys)
c.1219A>T (p.Ser407Cys)
c.1246A>T (p.Ser416Cys)
c.1198A>T (p.Ser400Cys)
c.1231A>T (p.Ser411Cys)
c.1300A>T (p.Ser434Cys)
c.1279A>T (p.Ser427Cys)
c.1276A>T (p.Ser426Cys)
c.1258A>T (p.Ser420Cys)
c.1222A>T (p.Ser408Cys)
c.1201A>T (p.Ser401Cys)
c.421+30618T>A (n.421+30618T>A)
n.440+30618T>A
n.242+38013T>A
c.964A>T (p.Ser322Cys)
c.1378A>T (p.Ser460Cys)
6g.32293427T>CCA363561608TSBP1,TSBP1-AS1c.1240A>G (p.Ser414Gly)
c.1243A>G (p.Ser415Gly)
c.1219A>G (p.Ser407Gly)
c.1246A>G (p.Ser416Gly)
c.1198A>G (p.Ser400Gly)
c.1231A>G (p.Ser411Gly)
c.1300A>G (p.Ser434Gly)
c.1279A>G (p.Ser427Gly)
c.1276A>G (p.Ser426Gly)
c.1258A>G (p.Ser420Gly)
c.1222A>G (p.Ser408Gly)
c.1201A>G (p.Ser401Gly)
c.421+30618T>C (n.421+30618T>C)
n.440+30618T>C
n.242+38013T>C
c.964A>G (p.Ser322Gly)
c.1378A>G (p.Ser460Gly)
6g.32293427T>GCA363561607TSBP1,TSBP1-AS1c.1240A>C (p.Ser414Arg)
c.1243A>C (p.Ser415Arg)
c.1219A>C (p.Ser407Arg)
c.1246A>C (p.Ser416Arg)
c.1198A>C (p.Ser400Arg)
c.1231A>C (p.Ser411Arg)
c.1300A>C (p.Ser434Arg)
c.1279A>C (p.Ser427Arg)
c.1276A>C (p.Ser426Arg)
c.1258A>C (p.Ser420Arg)
c.1222A>C (p.Ser408Arg)
c.1201A>C (p.Ser401Arg)
c.421+30618T>G (n.421+30618T>G)
n.440+30618T>G
n.242+38013T>G
c.964A>C (p.Ser322Arg)
c.1378A>C (p.Ser460Arg)
6g.32293428C>ACA363561611TSBP1,TSBP1-AS1c.1239G>T (p.Lys413Asn)
c.1242G>T (p.Lys414Asn)
c.1218G>T (p.Lys406Asn)
c.1245G>T (p.Lys415Asn)
c.1197G>T (p.Lys399Asn)
c.1230G>T (p.Lys410Asn)
c.1299G>T (p.Lys433Asn)
c.1278G>T (p.Lys426Asn)
c.1275G>T (p.Lys425Asn)
c.1257G>T (p.Lys419Asn)
c.1221G>T (p.Lys407Asn)
c.1200G>T (p.Lys400Asn)
c.421+30619C>A (n.421+30619C>A)
n.440+30619C>A
n.242+38014C>A
c.963G>T (p.Lys321Asn)
c.1377G>T (p.Lys459Asn)
6g.32293428C=CA1619500827TSBP1,TSBP1-AS1c.1239G= (p.Lys413=)
c.1242G= (p.Lys414=)
c.1218G= (p.Lys406=)
c.1245G= (p.Lys415=)
c.1197G= (p.Lys399=)
c.1230G= (p.Lys410=)
c.1299G= (p.Lys433=)
c.1278G= (p.Lys426=)
c.1275G= (p.Lys425=)
c.1257G= (p.Lys419=)
c.1221G= (p.Lys407=)
c.1200G= (p.Lys400=)
c.421+30619C= (n.421+30619C=)
n.440+30619C=
n.242+38014C=
c.963G= (p.Lys321=)
c.1377G= (p.Lys459=)
6g.32293428C>GCA363561610TSBP1,TSBP1-AS1c.1239G>C (p.Lys413Asn)
c.1242G>C (p.Lys414Asn)
c.1218G>C (p.Lys406Asn)
c.1245G>C (p.Lys415Asn)
c.1197G>C (p.Lys399Asn)
c.1230G>C (p.Lys410Asn)
c.1299G>C (p.Lys433Asn)
c.1278G>C (p.Lys426Asn)
c.1275G>C (p.Lys425Asn)
c.1257G>C (p.Lys419Asn)
c.1221G>C (p.Lys407Asn)
c.1200G>C (p.Lys400Asn)
c.421+30619C>G (n.421+30619C>G)
n.440+30619C>G
n.242+38014C>G
c.963G>C (p.Lys321Asn)
c.1377G>C (p.Lys459Asn)
6g.32293428C>TCA449829536TSBP1,TSBP1-AS1c.1239G>A (p.Lys413=)
c.1242G>A (p.Lys414=)
c.1218G>A (p.Lys406=)
c.1245G>A (p.Lys415=)
c.1197G>A (p.Lys399=)
c.1230G>A (p.Lys410=)
c.1299G>A (p.Lys433=)
c.1278G>A (p.Lys426=)
c.1275G>A (p.Lys425=)
c.1257G>A (p.Lys419=)
c.1221G>A (p.Lys407=)
c.1200G>A (p.Lys400=)
c.421+30619C>T (n.421+30619C>T)
n.440+30619C>T
n.242+38014C>T
c.963G>A (p.Lys321=)
c.1377G>A (p.Lys459=)
 dbSNP
6g.32293429T>ACA363561613TSBP1,TSBP1-AS1c.1238A>T (p.Lys413Met)
c.1241A>T (p.Lys414Met)
c.1217A>T (p.Lys406Met)
c.1244A>T (p.Lys415Met)
c.1196A>T (p.Lys399Met)
c.1229A>T (p.Lys410Met)
c.1298A>T (p.Lys433Met)
c.1277A>T (p.Lys426Met)
c.1274A>T (p.Lys425Met)
c.1256A>T (p.Lys419Met)
c.1220A>T (p.Lys407Met)
c.1199A>T (p.Lys400Met)
c.421+30620T>A (n.421+30620T>A)
n.440+30620T>A
n.242+38015T>A
c.962A>T (p.Lys321Met)
c.1376A>T (p.Lys459Met)
6g.32293429T>CCA363561612TSBP1,TSBP1-AS1c.1238A>G (p.Lys413Arg)
c.1241A>G (p.Lys414Arg)
c.1217A>G (p.Lys406Arg)
c.1244A>G (p.Lys415Arg)
c.1196A>G (p.Lys399Arg)
c.1229A>G (p.Lys410Arg)
c.1298A>G (p.Lys433Arg)
c.1277A>G (p.Lys426Arg)
c.1274A>G (p.Lys425Arg)
c.1256A>G (p.Lys419Arg)
c.1220A>G (p.Lys407Arg)
c.1199A>G (p.Lys400Arg)
c.421+30620T>C (n.421+30620T>C)
n.440+30620T>C
n.242+38015T>C
c.962A>G (p.Lys321Arg)
c.1376A>G (p.Lys459Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.32293429T>GCA363561614TSBP1,TSBP1-AS1c.1238A>C (p.Lys413Thr)
c.1241A>C (p.Lys414Thr)
c.1217A>C (p.Lys406Thr)
c.1244A>C (p.Lys415Thr)
c.1196A>C (p.Lys399Thr)
c.1229A>C (p.Lys410Thr)
c.1298A>C (p.Lys433Thr)
c.1277A>C (p.Lys426Thr)
c.1274A>C (p.Lys425Thr)
c.1256A>C (p.Lys419Thr)
c.1220A>C (p.Lys407Thr)
c.1199A>C (p.Lys400Thr)
c.421+30620T>G (n.421+30620T>G)
n.440+30620T>G
n.242+38015T>G
c.962A>C (p.Lys321Thr)
c.1376A>C (p.Lys459Thr)
6g.32293429T=CA1619500828TSBP1,TSBP1-AS1c.1238A= (p.Lys413=)
c.1241A= (p.Lys414=)
c.1217A= (p.Lys406=)
c.1244A= (p.Lys415=)
c.1196A= (p.Lys399=)
c.1229A= (p.Lys410=)
c.1298A= (p.Lys433=)
c.1277A= (p.Lys426=)
c.1274A= (p.Lys425=)
c.1256A= (p.Lys419=)
c.1220A= (p.Lys407=)
c.1199A= (p.Lys400=)
c.421+30620T= (n.421+30620T=)
n.440+30620T=
n.242+38015T=
c.962A= (p.Lys321=)
c.1376A= (p.Lys459=)
6g.32293430T>ACA363561615TSBP1,TSBP1-AS1c.1237A>T (p.Lys413Ter)
c.1240A>T (p.Lys414Ter)
c.1216A>T (p.Lys406Ter)
c.1243A>T (p.Lys415Ter)
c.1195A>T (p.Lys399Ter)
c.1228A>T (p.Lys410Ter)
c.1297A>T (p.Lys433Ter)
c.1276A>T (p.Lys426Ter)
c.1273A>T (p.Lys425Ter)
c.1255A>T (p.Lys419Ter)
c.1219A>T (p.Lys407Ter)
c.1198A>T (p.Lys400Ter)
c.421+30621T>A (n.421+30621T>A)
n.440+30621T>A
n.242+38016T>A
c.961A>T (p.Lys321Ter)
c.1375A>T (p.Lys459Ter)
6g.32293430T>CCA363561617TSBP1,TSBP1-AS1c.1237A>G (p.Lys413Glu)
c.1240A>G (p.Lys414Glu)
c.1216A>G (p.Lys406Glu)
c.1243A>G (p.Lys415Glu)
c.1195A>G (p.Lys399Glu)
c.1228A>G (p.Lys410Glu)
c.1297A>G (p.Lys433Glu)
c.1276A>G (p.Lys426Glu)
c.1273A>G (p.Lys425Glu)
c.1255A>G (p.Lys419Glu)
c.1219A>G (p.Lys407Glu)
c.1198A>G (p.Lys400Glu)
c.421+30621T>C (n.421+30621T>C)
n.440+30621T>C
n.242+38016T>C
c.961A>G (p.Lys321Glu)
c.1375A>G (p.Lys459Glu)
6g.32293430T>GCA363561616TSBP1,TSBP1-AS1c.1237A>C (p.Lys413Gln)
c.1240A>C (p.Lys414Gln)
c.1216A>C (p.Lys406Gln)
c.1243A>C (p.Lys415Gln)
c.1195A>C (p.Lys399Gln)
c.1228A>C (p.Lys410Gln)
c.1297A>C (p.Lys433Gln)
c.1276A>C (p.Lys426Gln)
c.1273A>C (p.Lys425Gln)
c.1255A>C (p.Lys419Gln)
c.1219A>C (p.Lys407Gln)
c.1198A>C (p.Lys400Gln)
c.421+30621T>G (n.421+30621T>G)
n.440+30621T>G
n.242+38016T>G
c.961A>C (p.Lys321Gln)
c.1375A>C (p.Lys459Gln)
6g.32293431C>ACA363561618TSBP1,TSBP1-AS1c.1236G>T (p.Glu412Asp)
c.1239G>T (p.Glu413Asp)
c.1215G>T (p.Glu405Asp)
c.1242G>T (p.Glu414Asp)
c.1194G>T (p.Glu398Asp)
c.1227G>T (p.Glu409Asp)
c.1296G>T (p.Glu432Asp)
c.1275G>T (p.Glu425Asp)
c.1272G>T (p.Glu424Asp)
c.1254G>T (p.Glu418Asp)
c.1218G>T (p.Glu406Asp)
c.1197G>T (p.Glu399Asp)
c.421+30622C>A (n.421+30622C>A)
n.440+30622C>A
n.242+38017C>A
c.960G>T (p.Glu320Asp)
c.1374G>T (p.Glu458Asp)
6g.32293431C>GCA363561619TSBP1,TSBP1-AS1c.1236G>C (p.Glu412Asp)
c.1239G>C (p.Glu413Asp)
c.1215G>C (p.Glu405Asp)
c.1242G>C (p.Glu414Asp)
c.1194G>C (p.Glu398Asp)
c.1227G>C (p.Glu409Asp)
c.1296G>C (p.Glu432Asp)
c.1275G>C (p.Glu425Asp)
c.1272G>C (p.Glu424Asp)
c.1254G>C (p.Glu418Asp)
c.1218G>C (p.Glu406Asp)
c.1197G>C (p.Glu399Asp)
c.421+30622C>G (n.421+30622C>G)
n.440+30622C>G
n.242+38017C>G
c.960G>C (p.Glu320Asp)
c.1374G>C (p.Glu458Asp)
 gnomAD v4
6g.32293431C>TCA449829538TSBP1,TSBP1-AS1c.1236G>A (p.Glu412=)
c.1239G>A (p.Glu413=)
c.1215G>A (p.Glu405=)
c.1242G>A (p.Glu414=)
c.1194G>A (p.Glu398=)
c.1227G>A (p.Glu409=)
c.1296G>A (p.Glu432=)
c.1275G>A (p.Glu425=)
c.1272G>A (p.Glu424=)
c.1254G>A (p.Glu418=)
c.1218G>A (p.Glu406=)
c.1197G>A (p.Glu399=)
c.421+30622C>T (n.421+30622C>T)
n.440+30622C>T
n.242+38017C>T
c.960G>A (p.Glu320=)
c.1374G>A (p.Glu458=)
6g.32293432T>ACA363561620TSBP1,TSBP1-AS1c.1235A>T (p.Glu412Val)
c.1238A>T (p.Glu413Val)
c.1214A>T (p.Glu405Val)
c.1241A>T (p.Glu414Val)
c.1193A>T (p.Glu398Val)
c.1226A>T (p.Glu409Val)
c.1295A>T (p.Glu432Val)
c.1274A>T (p.Glu425Val)
c.1271A>T (p.Glu424Val)
c.1253A>T (p.Glu418Val)
c.1217A>T (p.Glu406Val)
c.1196A>T (p.Glu399Val)
c.421+30623T>A (n.421+30623T>A)
n.440+30623T>A
n.242+38018T>A
c.959A>T (p.Glu320Val)
c.1373A>T (p.Glu458Val)
6g.32293432T>CCA363561621TSBP1,TSBP1-AS1c.1235A>G (p.Glu412Gly)
c.1238A>G (p.Glu413Gly)
c.1214A>G (p.Glu405Gly)
c.1241A>G (p.Glu414Gly)
c.1193A>G (p.Glu398Gly)
c.1226A>G (p.Glu409Gly)
c.1295A>G (p.Glu432Gly)
c.1274A>G (p.Glu425Gly)
c.1271A>G (p.Glu424Gly)
c.1253A>G (p.Glu418Gly)
c.1217A>G (p.Glu406Gly)
c.1196A>G (p.Glu399Gly)
c.421+30623T>C (n.421+30623T>C)
n.440+30623T>C
n.242+38018T>C
c.959A>G (p.Glu320Gly)
c.1373A>G (p.Glu458Gly)
6g.32293432T>GCA363561622TSBP1,TSBP1-AS1c.1235A>C (p.Glu412Ala)
c.1238A>C (p.Glu413Ala)
c.1214A>C (p.Glu405Ala)
c.1241A>C (p.Glu414Ala)
c.1193A>C (p.Glu398Ala)
c.1226A>C (p.Glu409Ala)
c.1295A>C (p.Glu432Ala)
c.1274A>C (p.Glu425Ala)
c.1271A>C (p.Glu424Ala)
c.1253A>C (p.Glu418Ala)
c.1217A>C (p.Glu406Ala)
c.1196A>C (p.Glu399Ala)
c.421+30623T>G (n.421+30623T>G)
n.440+30623T>G
n.242+38018T>G
c.959A>C (p.Glu320Ala)
c.1373A>C (p.Glu458Ala)
6g.32293433C>ACA363561623TSBP1,TSBP1-AS1c.1234G>T (p.Glu412Ter)
c.1237G>T (p.Glu413Ter)
c.1213G>T (p.Glu405Ter)
c.1240G>T (p.Glu414Ter)
c.1192G>T (p.Glu398Ter)
c.1225G>T (p.Glu409Ter)
c.1294G>T (p.Glu432Ter)
c.1273G>T (p.Glu425Ter)
c.1270G>T (p.Glu424Ter)
c.1252G>T (p.Glu418Ter)
c.1216G>T (p.Glu406Ter)
c.1195G>T (p.Glu399Ter)
c.421+30624C>A (n.421+30624C>A)
n.440+30624C>A
n.242+38019C>A
c.958G>T (p.Glu320Ter)
c.1372G>T (p.Glu458Ter)
6g.32293433C=CA1619500829TSBP1,TSBP1-AS1c.1234G= (p.Glu412=)
c.1237G= (p.Glu413=)
c.1213G= (p.Glu405=)
c.1240G= (p.Glu414=)
c.1192G= (p.Glu398=)
c.1225G= (p.Glu409=)
c.1294G= (p.Glu432=)
c.1273G= (p.Glu425=)
c.1270G= (p.Glu424=)
c.1252G= (p.Glu418=)
c.1216G= (p.Glu406=)
c.1195G= (p.Glu399=)
c.421+30624C= (n.421+30624C=)
n.440+30624C=
n.242+38019C=
c.958G= (p.Glu320=)
c.1372G= (p.Glu458=)
6g.32293433C>GCA363561624TSBP1,TSBP1-AS1c.1234G>C (p.Glu412Gln)
c.1237G>C (p.Glu413Gln)
c.1213G>C (p.Glu405Gln)
c.1240G>C (p.Glu414Gln)
c.1192G>C (p.Glu398Gln)
c.1225G>C (p.Glu409Gln)
c.1294G>C (p.Glu432Gln)
c.1273G>C (p.Glu425Gln)
c.1270G>C (p.Glu424Gln)
c.1252G>C (p.Glu418Gln)
c.1216G>C (p.Glu406Gln)
c.1195G>C (p.Glu399Gln)
c.421+30624C>G (n.421+30624C>G)
n.440+30624C>G
n.242+38019C>G
c.958G>C (p.Glu320Gln)
c.1372G>C (p.Glu458Gln)
 COSMIC
6g.32293433C>TCA363561625TSBP1,TSBP1-AS1c.1234G>A (p.Glu412Lys)
c.1237G>A (p.Glu413Lys)
c.1213G>A (p.Glu405Lys)
c.1240G>A (p.Glu414Lys)
c.1192G>A (p.Glu398Lys)
c.1225G>A (p.Glu409Lys)
c.1294G>A (p.Glu432Lys)
c.1273G>A (p.Glu425Lys)
c.1270G>A (p.Glu424Lys)
c.1252G>A (p.Glu418Lys)
c.1216G>A (p.Glu406Lys)
c.1195G>A (p.Glu399Lys)
c.421+30624C>T (n.421+30624C>T)
n.440+30624C>T
n.242+38019C>T
c.958G>A (p.Glu320Lys)
c.1372G>A (p.Glu458Lys)
 dbSNP gnomAD v2
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.32293434T>ACA449829539TSBP1,TSBP1-AS1c.1233A>T (p.Val411=)
c.1236A>T (p.Val412=)
c.1212A>T (p.Val404=)
c.1239A>T (p.Val413=)
c.1191A>T (p.Val397=)
c.1224A>T (p.Val408=)
c.1293A>T (p.Val431=)
c.1272A>T (p.Val424=)
c.1269A>T (p.Val423=)
c.1251A>T (p.Val417=)
c.1215A>T (p.Val405=)
c.1194A>T (p.Val398=)
c.421+30625T>A (n.421+30625T>A)
n.440+30625T>A
n.242+38020T>A
c.957A>T (p.Val319=)
c.1371A>T (p.Val457=)
6g.32293434T>CCA449829540TSBP1,TSBP1-AS1c.1233A>G (p.Val411=)
c.1236A>G (p.Val412=)
c.1212A>G (p.Val404=)
c.1239A>G (p.Val413=)
c.1191A>G (p.Val397=)
c.1224A>G (p.Val408=)
c.1293A>G (p.Val431=)
c.1272A>G (p.Val424=)
c.1269A>G (p.Val423=)
c.1251A>G (p.Val417=)
c.1215A>G (p.Val405=)
c.1194A>G (p.Val398=)
c.421+30625T>C (n.421+30625T>C)
n.440+30625T>C
n.242+38020T>C
c.957A>G (p.Val319=)
c.1371A>G (p.Val457=)
6g.32293434T>GCA449829541TSBP1,TSBP1-AS1c.1233A>C (p.Val411=)
c.1236A>C (p.Val412=)
c.1212A>C (p.Val404=)
c.1239A>C (p.Val413=)
c.1191A>C (p.Val397=)
c.1224A>C (p.Val408=)
c.1293A>C (p.Val431=)
c.1272A>C (p.Val424=)
c.1269A>C (p.Val423=)
c.1251A>C (p.Val417=)
c.1215A>C (p.Val405=)
c.1194A>C (p.Val398=)
c.421+30625T>G (n.421+30625T>G)
n.440+30625T>G
n.242+38020T>G
c.957A>C (p.Val319=)
c.1371A>C (p.Val457=)
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.32293435A>CCA363561626TSBP1,TSBP1-AS1c.1232T>G (p.Val411Gly)
c.1235T>G (p.Val412Gly)
c.1211T>G (p.Val404Gly)
c.1238T>G (p.Val413Gly)
c.1190T>G (p.Val397Gly)
c.1223T>G (p.Val408Gly)
c.1292T>G (p.Val431Gly)
c.1271T>G (p.Val424Gly)
c.1268T>G (p.Val423Gly)
c.1250T>G (p.Val417Gly)
c.1214T>G (p.Val405Gly)
c.1193T>G (p.Val398Gly)
c.421+30626A>C (n.421+30626A>C)
n.440+30626A>C
n.242+38021A>C
c.956T>G (p.Val319Gly)
c.1370T>G (p.Val457Gly)
 gnomAD v4
6g.32293435A>GCA363561627TSBP1,TSBP1-AS1c.1232T>C (p.Val411Ala)
c.1235T>C (p.Val412Ala)
c.1211T>C (p.Val404Ala)
c.1238T>C (p.Val413Ala)
c.1190T>C (p.Val397Ala)
c.1223T>C (p.Val408Ala)
c.1292T>C (p.Val431Ala)
c.1271T>C (p.Val424Ala)
c.1268T>C (p.Val423Ala)
c.1250T>C (p.Val417Ala)
c.1214T>C (p.Val405Ala)
c.1193T>C (p.Val398Ala)
c.421+30626A>G (n.421+30626A>G)
n.440+30626A>G
n.242+38021A>G
c.956T>C (p.Val319Ala)
c.1370T>C (p.Val457Ala)
6g.32293435A>TCA363561628TSBP1,TSBP1-AS1c.1232T>A (p.Val411Glu)
c.1235T>A (p.Val412Glu)
c.1211T>A (p.Val404Glu)
c.1238T>A (p.Val413Glu)
c.1190T>A (p.Val397Glu)
c.1223T>A (p.Val408Glu)
c.1292T>A (p.Val431Glu)
c.1271T>A (p.Val424Glu)
c.1268T>A (p.Val423Glu)
c.1250T>A (p.Val417Glu)
c.1214T>A (p.Val405Glu)
c.1193T>A (p.Val398Glu)
c.421+30626A>T (n.421+30626A>T)
n.440+30626A>T
n.242+38021A>T
c.956T>A (p.Val319Glu)
c.1370T>A (p.Val457Glu)
 gnomAD v3 gnomAD v4 COSMIC
6g.32293436C>ACA363561631TSBP1,TSBP1-AS1c.1231G>T (p.Val411Leu)
c.1234G>T (p.Val412Leu)
c.1210G>T (p.Val404Leu)
c.1237G>T (p.Val413Leu)
c.1189G>T (p.Val397Leu)
c.1222G>T (p.Val408Leu)
c.1291G>T (p.Val431Leu)
c.1270G>T (p.Val424Leu)
c.1267G>T (p.Val423Leu)
c.1249G>T (p.Val417Leu)
c.1213G>T (p.Val405Leu)
c.1192G>T (p.Val398Leu)
c.421+30627C>A (n.421+30627C>A)
n.440+30627C>A
n.242+38022C>A
c.955G>T (p.Val319Leu)
c.1369G>T (p.Val457Leu)
6g.32293436C>GCA363561630TSBP1,TSBP1-AS1c.1231G>C (p.Val411Leu)
c.1234G>C (p.Val412Leu)
c.1210G>C (p.Val404Leu)
c.1237G>C (p.Val413Leu)
c.1189G>C (p.Val397Leu)
c.1222G>C (p.Val408Leu)
c.1291G>C (p.Val431Leu)
c.1270G>C (p.Val424Leu)
c.1267G>C (p.Val423Leu)
c.1249G>C (p.Val417Leu)
c.1213G>C (p.Val405Leu)
c.1192G>C (p.Val398Leu)
c.421+30627C>G (n.421+30627C>G)
n.440+30627C>G
n.242+38022C>G
c.955G>C (p.Val319Leu)
c.1369G>C (p.Val457Leu)
6g.32293436C>TCA363561629TSBP1,TSBP1-AS1c.1231G>A (p.Val411Ile)
c.1234G>A (p.Val412Ile)
c.1210G>A (p.Val404Ile)
c.1237G>A (p.Val413Ile)
c.1189G>A (p.Val397Ile)
c.1222G>A (p.Val408Ile)
c.1291G>A (p.Val431Ile)
c.1270G>A (p.Val424Ile)
c.1267G>A (p.Val423Ile)
c.1249G>A (p.Val417Ile)
c.1213G>A (p.Val405Ile)
c.1192G>A (p.Val398Ile)
c.421+30627C>T (n.421+30627C>T)
n.440+30627C>T
n.242+38022C>T
c.955G>A (p.Val319Ile)
c.1369G>A (p.Val457Ile)
6g.32293437C>ACA363561632TSBP1,TSBP1-AS1c.1230G>T (p.Gln410His)
c.1233G>T (p.Gln411His)
c.1209G>T (p.Gln403His)
c.1236G>T (p.Gln412His)
c.1188G>T (p.Gln396His)
c.1221G>T (p.Gln407His)
c.1290G>T (p.Gln430His)
c.1269G>T (p.Gln423His)
c.1266G>T (p.Gln422His)
c.1248G>T (p.Gln416His)
c.1212G>T (p.Gln404His)
c.1191G>T (p.Gln397His)
c.421+30628C>A (n.421+30628C>A)
n.440+30628C>A
n.242+38023C>A
c.954G>T (p.Gln318His)
c.1368G>T (p.Gln456His)
6g.32293437C>GCA363561633TSBP1,TSBP1-AS1c.1230G>C (p.Gln410His)
c.1233G>C (p.Gln411His)
c.1209G>C (p.Gln403His)
c.1236G>C (p.Gln412His)
c.1188G>C (p.Gln396His)
c.1221G>C (p.Gln407His)
c.1290G>C (p.Gln430His)
c.1269G>C (p.Gln423His)
c.1266G>C (p.Gln422His)
c.1248G>C (p.Gln416His)
c.1212G>C (p.Gln404His)
c.1191G>C (p.Gln397His)
c.421+30628C>G (n.421+30628C>G)
n.440+30628C>G
n.242+38023C>G
c.954G>C (p.Gln318His)
c.1368G>C (p.Gln456His)
6g.32293437C>TCA449829542TSBP1,TSBP1-AS1c.1230G>A (p.Gln410=)
c.1233G>A (p.Gln411=)
c.1209G>A (p.Gln403=)
c.1236G>A (p.Gln412=)
c.1188G>A (p.Gln396=)
c.1221G>A (p.Gln407=)
c.1290G>A (p.Gln430=)
c.1269G>A (p.Gln423=)
c.1266G>A (p.Gln422=)
c.1248G>A (p.Gln416=)
c.1212G>A (p.Gln404=)
c.1191G>A (p.Gln397=)
c.421+30628C>T (n.421+30628C>T)
n.440+30628C>T
n.242+38023C>T
c.954G>A (p.Gln318=)
c.1368G>A (p.Gln456=)
 gnomAD v4
6g.32293438T>ACA363561634TSBP1,TSBP1-AS1c.1229A>T (p.Gln410Leu)
c.1232A>T (p.Gln411Leu)
c.1208A>T (p.Gln403Leu)
c.1235A>T (p.Gln412Leu)
c.1187A>T (p.Gln396Leu)
c.1220A>T (p.Gln407Leu)
c.1289A>T (p.Gln430Leu)
c.1268A>T (p.Gln423Leu)
c.1265A>T (p.Gln422Leu)
c.1247A>T (p.Gln416Leu)
c.1211A>T (p.Gln404Leu)
c.1190A>T (p.Gln397Leu)
c.421+30629T>A (n.421+30629T>A)
n.440+30629T>A
n.242+38024T>A
c.953A>T (p.Gln318Leu)
c.1367A>T (p.Gln456Leu)
6g.32293438T>CCA363561635TSBP1,TSBP1-AS1c.1229A>G (p.Gln410Arg)
c.1232A>G (p.Gln411Arg)
c.1208A>G (p.Gln403Arg)
c.1235A>G (p.Gln412Arg)
c.1187A>G (p.Gln396Arg)
c.1220A>G (p.Gln407Arg)
c.1289A>G (p.Gln430Arg)
c.1268A>G (p.Gln423Arg)
c.1265A>G (p.Gln422Arg)
c.1247A>G (p.Gln416Arg)
c.1211A>G (p.Gln404Arg)
c.1190A>G (p.Gln397Arg)
c.421+30629T>C (n.421+30629T>C)
n.440+30629T>C
n.242+38024T>C
c.953A>G (p.Gln318Arg)
c.1367A>G (p.Gln456Arg)
6g.32293438T>GCA363561636TSBP1,TSBP1-AS1c.1229A>C (p.Gln410Pro)
c.1232A>C (p.Gln411Pro)
c.1208A>C (p.Gln403Pro)
c.1235A>C (p.Gln412Pro)
c.1187A>C (p.Gln396Pro)
c.1220A>C (p.Gln407Pro)
c.1289A>C (p.Gln430Pro)
c.1268A>C (p.Gln423Pro)
c.1265A>C (p.Gln422Pro)
c.1247A>C (p.Gln416Pro)
c.1211A>C (p.Gln404Pro)
c.1190A>C (p.Gln397Pro)
c.421+30629T>G (n.421+30629T>G)
n.440+30629T>G
n.242+38024T>G
c.953A>C (p.Gln318Pro)
c.1367A>C (p.Gln456Pro)
6g.32293439G>ACA363561637TSBP1,TSBP1-AS1c.1228C>T (p.Gln410Ter)
c.1231C>T (p.Gln411Ter)
c.1207C>T (p.Gln403Ter)
c.1234C>T (p.Gln412Ter)
c.1186C>T (p.Gln396Ter)
c.1219C>T (p.Gln407Ter)
c.1288C>T (p.Gln430Ter)
c.1267C>T (p.Gln423Ter)
c.1264C>T (p.Gln422Ter)
c.1246C>T (p.Gln416Ter)
c.1210C>T (p.Gln404Ter)
c.1189C>T (p.Gln397Ter)
c.421+30630G>A (n.421+30630G>A)
n.440+30630G>A
n.242+38025G>A
c.952C>T (p.Gln318Ter)
c.1366C>T (p.Gln456Ter)
 gnomAD v4
6g.32293439G>CCA363561638TSBP1,TSBP1-AS1c.1228C>G (p.Gln410Glu)
c.1231C>G (p.Gln411Glu)
c.1207C>G (p.Gln403Glu)
c.1234C>G (p.Gln412Glu)
c.1186C>G (p.Gln396Glu)
c.1219C>G (p.Gln407Glu)
c.1288C>G (p.Gln430Glu)
c.1267C>G (p.Gln423Glu)
c.1264C>G (p.Gln422Glu)
c.1246C>G (p.Gln416Glu)
c.1210C>G (p.Gln404Glu)
c.1189C>G (p.Gln397Glu)
c.421+30630G>C (n.421+30630G>C)
n.440+30630G>C
n.242+38025G>C
c.952C>G (p.Gln318Glu)
c.1366C>G (p.Gln456Glu)
6g.32293439G>TCA363561639TSBP1,TSBP1-AS1c.1228C>A (p.Gln410Lys)
c.1231C>A (p.Gln411Lys)
c.1207C>A (p.Gln403Lys)
c.1234C>A (p.Gln412Lys)
c.1186C>A (p.Gln396Lys)
c.1219C>A (p.Gln407Lys)
c.1288C>A (p.Gln430Lys)
c.1267C>A (p.Gln423Lys)
c.1264C>A (p.Gln422Lys)
c.1246C>A (p.Gln416Lys)
c.1210C>A (p.Gln404Lys)
c.1189C>A (p.Gln397Lys)
c.421+30630G>T (n.421+30630G>T)
n.440+30630G>T
n.242+38025G>T
c.952C>A (p.Gln318Lys)
c.1366C>A (p.Gln456Lys)
6g.32293440G>ACA449829546TSBP1,TSBP1-AS1c.1227C>T (p.Ala409=)
c.1230C>T (p.Ala410=)
c.1206C>T (p.Ala402=)
c.1233C>T (p.Ala411=)
c.1185C>T (p.Ala395=)
c.1218C>T (p.Ala406=)
c.1287C>T (p.Ala429=)
c.1266C>T (p.Ala422=)
c.1263C>T (p.Ala421=)
c.1245C>T (p.Ala415=)
c.1209C>T (p.Ala403=)
c.1188C>T (p.Ala396=)
c.421+30631G>A (n.421+30631G>A)
n.440+30631G>A
n.242+38026G>A
c.951C>T (p.Ala317=)
c.1365C>T (p.Ala455=)
6g.32293440G>CCA449829547TSBP1,TSBP1-AS1c.1227C>G (p.Ala409=)
c.1230C>G (p.Ala410=)
c.1206C>G (p.Ala402=)
c.1233C>G (p.Ala411=)
c.1185C>G (p.Ala395=)
c.1218C>G (p.Ala406=)
c.1287C>G (p.Ala429=)
c.1266C>G (p.Ala422=)
c.1263C>G (p.Ala421=)
c.1245C>G (p.Ala415=)
c.1209C>G (p.Ala403=)
c.1188C>G (p.Ala396=)
c.421+30631G>C (n.421+30631G>C)
n.440+30631G>C
n.242+38026G>C
c.951C>G (p.Ala317=)
c.1365C>G (p.Ala455=)
6g.32293440G>TCA449829548TSBP1,TSBP1-AS1c.1227C>A (p.Ala409=)
c.1230C>A (p.Ala410=)
c.1206C>A (p.Ala402=)
c.1233C>A (p.Ala411=)
c.1185C>A (p.Ala395=)
c.1218C>A (p.Ala406=)
c.1287C>A (p.Ala429=)
c.1266C>A (p.Ala422=)
c.1263C>A (p.Ala421=)
c.1245C>A (p.Ala415=)
c.1209C>A (p.Ala403=)
c.1188C>A (p.Ala396=)
c.421+30631G>T (n.421+30631G>T)
n.440+30631G>T
n.242+38026G>T
c.951C>A (p.Ala317=)
c.1365C>A (p.Ala455=)
6g.32293441G>ACA363561640TSBP1,TSBP1-AS1c.1226C>T (p.Ala409Val)
c.1229C>T (p.Ala410Val)
c.1205C>T (p.Ala402Val)
c.1232C>T (p.Ala411Val)
c.1184C>T (p.Ala395Val)
c.1217C>T (p.Ala406Val)
c.1286C>T (p.Ala429Val)
c.1265C>T (p.Ala422Val)
c.1262C>T (p.Ala421Val)
c.1244C>T (p.Ala415Val)
c.1208C>T (p.Ala403Val)
c.1187C>T (p.Ala396Val)
c.421+30632G>A (n.421+30632G>A)
n.440+30632G>A
n.242+38027G>A
c.950C>T (p.Ala317Val)
c.1364C>T (p.Ala455Val)
6g.32293441G>CCA363561641TSBP1,TSBP1-AS1c.1226C>G (p.Ala409Gly)
c.1229C>G (p.Ala410Gly)
c.1205C>G (p.Ala402Gly)
c.1232C>G (p.Ala411Gly)
c.1184C>G (p.Ala395Gly)
c.1217C>G (p.Ala406Gly)
c.1286C>G (p.Ala429Gly)
c.1265C>G (p.Ala422Gly)
c.1262C>G (p.Ala421Gly)
c.1244C>G (p.Ala415Gly)
c.1208C>G (p.Ala403Gly)
c.1187C>G (p.Ala396Gly)
c.421+30632G>C (n.421+30632G>C)
n.440+30632G>C
n.242+38027G>C
c.950C>G (p.Ala317Gly)
c.1364C>G (p.Ala455Gly)
6g.32293441G>TCA363561642TSBP1,TSBP1-AS1c.1226C>A (p.Ala409Asp)
c.1229C>A (p.Ala410Asp)
c.1205C>A (p.Ala402Asp)
c.1232C>A (p.Ala411Asp)
c.1184C>A (p.Ala395Asp)
c.1217C>A (p.Ala406Asp)
c.1286C>A (p.Ala429Asp)
c.1265C>A (p.Ala422Asp)
c.1262C>A (p.Ala421Asp)
c.1244C>A (p.Ala415Asp)
c.1208C>A (p.Ala403Asp)
c.1187C>A (p.Ala396Asp)
c.421+30632G>T (n.421+30632G>T)
n.440+30632G>T
n.242+38027G>T
c.950C>A (p.Ala317Asp)
c.1364C>A (p.Ala455Asp)
6g.32293442C>ACA363561644TSBP1,TSBP1-AS1c.1225G>T (p.Ala409Ser)
c.1228G>T (p.Ala410Ser)
c.1204G>T (p.Ala402Ser)
c.1231G>T (p.Ala411Ser)
c.1183G>T (p.Ala395Ser)
c.1216G>T (p.Ala406Ser)
c.1285G>T (p.Ala429Ser)
c.1264G>T (p.Ala422Ser)
c.1261G>T (p.Ala421Ser)
c.1243G>T (p.Ala415Ser)
c.1207G>T (p.Ala403Ser)
c.1186G>T (p.Ala396Ser)
c.421+30633C>A (n.421+30633C>A)
n.440+30633C>A
n.242+38028C>A
c.949G>T (p.Ala317Ser)
c.1363G>T (p.Ala455Ser)
6g.32293442C>GCA363561645TSBP1,TSBP1-AS1c.1225G>C (p.Ala409Pro)
c.1228G>C (p.Ala410Pro)
c.1204G>C (p.Ala402Pro)
c.1231G>C (p.Ala411Pro)
c.1183G>C (p.Ala395Pro)
c.1216G>C (p.Ala406Pro)
c.1285G>C (p.Ala429Pro)
c.1264G>C (p.Ala422Pro)
c.1261G>C (p.Ala421Pro)
c.1243G>C (p.Ala415Pro)
c.1207G>C (p.Ala403Pro)
c.1186G>C (p.Ala396Pro)
c.421+30633C>G (n.421+30633C>G)
n.440+30633C>G
n.242+38028C>G
c.949G>C (p.Ala317Pro)
c.1363G>C (p.Ala455Pro)
6g.32293442C>TCA363561643TSBP1,TSBP1-AS1c.1225G>A (p.Ala409Thr)
c.1228G>A (p.Ala410Thr)
c.1204G>A (p.Ala402Thr)
c.1231G>A (p.Ala411Thr)
c.1183G>A (p.Ala395Thr)
c.1216G>A (p.Ala406Thr)
c.1285G>A (p.Ala429Thr)
c.1264G>A (p.Ala422Thr)
c.1261G>A (p.Ala421Thr)
c.1243G>A (p.Ala415Thr)
c.1207G>A (p.Ala403Thr)
c.1186G>A (p.Ala396Thr)
c.421+30633C>T (n.421+30633C>T)
n.440+30633C>T
n.242+38028C>T
c.949G>A (p.Ala317Thr)
c.1363G>A (p.Ala455Thr)
6g.32293443T>ACA363561646TSBP1,TSBP1-AS1c.1224A>T (p.Glu408Asp)
c.1227A>T (p.Glu409Asp)
c.1203A>T (p.Glu401Asp)
c.1230A>T (p.Glu410Asp)
c.1182A>T (p.Glu394Asp)
c.1215A>T (p.Glu405Asp)
c.1284A>T (p.Glu428Asp)
c.1263A>T (p.Glu421Asp)
c.1260A>T (p.Glu420Asp)
c.1242A>T (p.Glu414Asp)
c.1206A>T (p.Glu402Asp)
c.1185A>T (p.Glu395Asp)
c.421+30634T>A (n.421+30634T>A)
n.440+30634T>A
n.242+38029T>A
c.948A>T (p.Glu316Asp)
c.1362A>T (p.Glu454Asp)
6g.32293443T>CCA449829553TSBP1,TSBP1-AS1c.1224A>G (p.Glu408=)
c.1227A>G (p.Glu409=)
c.1203A>G (p.Glu401=)
c.1230A>G (p.Glu410=)
c.1182A>G (p.Glu394=)
c.1215A>G (p.Glu405=)
c.1284A>G (p.Glu428=)
c.1263A>G (p.Glu421=)
c.1260A>G (p.Glu420=)
c.1242A>G (p.Glu414=)
c.1206A>G (p.Glu402=)
c.1185A>G (p.Glu395=)
c.421+30634T>C (n.421+30634T>C)
n.440+30634T>C
n.242+38029T>C
c.948A>G (p.Glu316=)
c.1362A>G (p.Glu454=)
6g.32293443T>GCA363561647TSBP1,TSBP1-AS1c.1224A>C (p.Glu408Asp)
c.1227A>C (p.Glu409Asp)
c.1203A>C (p.Glu401Asp)
c.1230A>C (p.Glu410Asp)
c.1182A>C (p.Glu394Asp)
c.1215A>C (p.Glu405Asp)
c.1284A>C (p.Glu428Asp)
c.1263A>C (p.Glu421Asp)
c.1260A>C (p.Glu420Asp)
c.1242A>C (p.Glu414Asp)
c.1206A>C (p.Glu402Asp)
c.1185A>C (p.Glu395Asp)
c.421+30634T>G (n.421+30634T>G)
n.440+30634T>G
n.242+38029T>G
c.948A>C (p.Glu316Asp)
c.1362A>C (p.Glu454Asp)
6g.32293444T>ACA363561648TSBP1,TSBP1-AS1c.1223A>T (p.Glu408Val)
c.1226A>T (p.Glu409Val)
c.1202A>T (p.Glu401Val)
c.1229A>T (p.Glu410Val)
c.1181A>T (p.Glu394Val)
c.1214A>T (p.Glu405Val)
c.1283A>T (p.Glu428Val)
c.1262A>T (p.Glu421Val)
c.1259A>T (p.Glu420Val)
c.1241A>T (p.Glu414Val)
c.1205A>T (p.Glu402Val)
c.1184A>T (p.Glu395Val)
c.421+30635T>A (n.421+30635T>A)
n.440+30635T>A
n.242+38030T>A
c.947A>T (p.Glu316Val)
c.1361A>T (p.Glu454Val)
6g.32293444T>CCA363561649TSBP1,TSBP1-AS1c.1223A>G (p.Glu408Gly)
c.1226A>G (p.Glu409Gly)
c.1202A>G (p.Glu401Gly)
c.1229A>G (p.Glu410Gly)
c.1181A>G (p.Glu394Gly)
c.1214A>G (p.Glu405Gly)
c.1283A>G (p.Glu428Gly)
c.1262A>G (p.Glu421Gly)
c.1259A>G (p.Glu420Gly)
c.1241A>G (p.Glu414Gly)
c.1205A>G (p.Glu402Gly)
c.1184A>G (p.Glu395Gly)
c.421+30635T>C (n.421+30635T>C)
n.440+30635T>C
n.242+38030T>C
c.947A>G (p.Glu316Gly)
c.1361A>G (p.Glu454Gly)
6g.32293444T>GCA363561650TSBP1,TSBP1-AS1c.1223A>C (p.Glu408Ala)
c.1226A>C (p.Glu409Ala)
c.1202A>C (p.Glu401Ala)
c.1229A>C (p.Glu410Ala)
c.1181A>C (p.Glu394Ala)
c.1214A>C (p.Glu405Ala)
c.1283A>C (p.Glu428Ala)
c.1262A>C (p.Glu421Ala)
c.1259A>C (p.Glu420Ala)
c.1241A>C (p.Glu414Ala)
c.1205A>C (p.Glu402Ala)
c.1184A>C (p.Glu395Ala)
c.421+30635T>G (n.421+30635T>G)
n.440+30635T>G
n.242+38030T>G
c.947A>C (p.Glu316Ala)
c.1361A>C (p.Glu454Ala)
6g.32293445C>ACA363561653TSBP1,TSBP1-AS1c.1222G>T (p.Glu408Ter)
c.1225G>T (p.Glu409Ter)
c.1201G>T (p.Glu401Ter)
c.1228G>T (p.Glu410Ter)
c.1180G>T (p.Glu394Ter)
c.1213G>T (p.Glu405Ter)
c.1282G>T (p.Glu428Ter)
c.1261G>T (p.Glu421Ter)
c.1258G>T (p.Glu420Ter)
c.1240G>T (p.Glu414Ter)
c.1204G>T (p.Glu402Ter)
c.1183G>T (p.Glu395Ter)
c.421+30636C>A (n.421+30636C>A)
n.440+30636C>A
n.242+38031C>A
c.946G>T (p.Glu316Ter)
c.1360G>T (p.Glu454Ter)
6g.32293445C>GCA363561651TSBP1,TSBP1-AS1c.1222G>C (p.Glu408Gln)
c.1225G>C (p.Glu409Gln)
c.1201G>C (p.Glu401Gln)
c.1228G>C (p.Glu410Gln)
c.1180G>C (p.Glu394Gln)
c.1213G>C (p.Glu405Gln)
c.1282G>C (p.Glu428Gln)
c.1261G>C (p.Glu421Gln)
c.1258G>C (p.Glu420Gln)
c.1240G>C (p.Glu414Gln)
c.1204G>C (p.Glu402Gln)
c.1183G>C (p.Glu395Gln)
c.421+30636C>G (n.421+30636C>G)
n.440+30636C>G
n.242+38031C>G
c.946G>C (p.Glu316Gln)
c.1360G>C (p.Glu454Gln)
6g.32293445C>TCA363561652TSBP1,TSBP1-AS1c.1222G>A (p.Glu408Lys)
c.1225G>A (p.Glu409Lys)
c.1201G>A (p.Glu401Lys)
c.1228G>A (p.Glu410Lys)
c.1180G>A (p.Glu394Lys)
c.1213G>A (p.Glu405Lys)
c.1282G>A (p.Glu428Lys)
c.1261G>A (p.Glu421Lys)
c.1258G>A (p.Glu420Lys)
c.1240G>A (p.Glu414Lys)
c.1204G>A (p.Glu402Lys)
c.1183G>A (p.Glu395Lys)
c.421+30636C>T (n.421+30636C>T)
n.440+30636C>T
n.242+38031C>T
c.946G>A (p.Glu316Lys)
c.1360G>A (p.Glu454Lys)
6g.32293446C>ACA363561654TSBP1,TSBP1-AS1c.1221G>T (p.Gln407His)
c.1224G>T (p.Gln408His)
c.1200G>T (p.Gln400His)
c.1227G>T (p.Gln409His)
c.1179G>T (p.Gln393His)
c.1212G>T (p.Gln404His)
c.1281G>T (p.Gln427His)
c.1260G>T (p.Gln420His)
c.1257G>T (p.Gln419His)
c.1239G>T (p.Gln413His)
c.1203G>T (p.Gln401His)
c.1182G>T (p.Gln394His)
c.421+30637C>A (n.421+30637C>A)
n.440+30637C>A
n.242+38032C>A
c.945G>T (p.Gln315His)
c.1359G>T (p.Gln453His)
6g.32293446C>GCA363561655TSBP1,TSBP1-AS1c.1221G>C (p.Gln407His)
c.1224G>C (p.Gln408His)
c.1200G>C (p.Gln400His)
c.1227G>C (p.Gln409His)
c.1179G>C (p.Gln393His)
c.1212G>C (p.Gln404His)
c.1281G>C (p.Gln427His)
c.1260G>C (p.Gln420His)
c.1257G>C (p.Gln419His)
c.1239G>C (p.Gln413His)
c.1203G>C (p.Gln401His)
c.1182G>C (p.Gln394His)
c.421+30637C>G (n.421+30637C>G)
n.440+30637C>G
n.242+38032C>G
c.945G>C (p.Gln315His)
c.1359G>C (p.Gln453His)
6g.32293446C>TCA449829558TSBP1,TSBP1-AS1c.1221G>A (p.Gln407=)
c.1224G>A (p.Gln408=)
c.1200G>A (p.Gln400=)
c.1227G>A (p.Gln409=)
c.1179G>A (p.Gln393=)
c.1212G>A (p.Gln404=)
c.1281G>A (p.Gln427=)
c.1260G>A (p.Gln420=)
c.1257G>A (p.Gln419=)
c.1239G>A (p.Gln413=)
c.1203G>A (p.Gln401=)
c.1182G>A (p.Gln394=)
c.421+30637C>T (n.421+30637C>T)
n.440+30637C>T
n.242+38032C>T
c.945G>A (p.Gln315=)
c.1359G>A (p.Gln453=)
6g.32293447T>ACA363561656TSBP1,TSBP1-AS1c.1220A>T (p.Gln407Leu)
c.1223A>T (p.Gln408Leu)
c.1199A>T (p.Gln400Leu)
c.1226A>T (p.Gln409Leu)
c.1178A>T (p.Gln393Leu)
c.1211A>T (p.Gln404Leu)
c.1280A>T (p.Gln427Leu)
c.1259A>T (p.Gln420Leu)
c.1256A>T (p.Gln419Leu)
c.1238A>T (p.Gln413Leu)
c.1202A>T (p.Gln401Leu)
c.1181A>T (p.Gln394Leu)
c.421+30638T>A (n.421+30638T>A)
n.440+30638T>A
n.242+38033T>A
c.944A>T (p.Gln315Leu)
c.1358A>T (p.Gln453Leu)
6g.32293447T>CCA363561657TSBP1,TSBP1-AS1c.1220A>G (p.Gln407Arg)
c.1223A>G (p.Gln408Arg)
c.1199A>G (p.Gln400Arg)
c.1226A>G (p.Gln409Arg)
c.1178A>G (p.Gln393Arg)
c.1211A>G (p.Gln404Arg)
c.1280A>G (p.Gln427Arg)
c.1259A>G (p.Gln420Arg)
c.1256A>G (p.Gln419Arg)
c.1238A>G (p.Gln413Arg)
c.1202A>G (p.Gln401Arg)
c.1181A>G (p.Gln394Arg)
c.421+30638T>C (n.421+30638T>C)
n.440+30638T>C
n.242+38033T>C
c.944A>G (p.Gln315Arg)
c.1358A>G (p.Gln453Arg)
6g.32293447T>GCA363561658TSBP1,TSBP1-AS1c.1220A>C (p.Gln407Pro)
c.1223A>C (p.Gln408Pro)
c.1199A>C (p.Gln400Pro)
c.1226A>C (p.Gln409Pro)
c.1178A>C (p.Gln393Pro)
c.1211A>C (p.Gln404Pro)
c.1280A>C (p.Gln427Pro)
c.1259A>C (p.Gln420Pro)
c.1256A>C (p.Gln419Pro)
c.1238A>C (p.Gln413Pro)
c.1202A>C (p.Gln401Pro)
c.1181A>C (p.Gln394Pro)
c.421+30638T>G (n.421+30638T>G)
n.440+30638T>G
n.242+38033T>G
c.944A>C (p.Gln315Pro)
c.1358A>C (p.Gln453Pro)
 gnomAD v4
6g.32293448G>ACA363561659TSBP1,TSBP1-AS1c.1219C>T (p.Gln407Ter)
c.1222C>T (p.Gln408Ter)
c.1198C>T (p.Gln400Ter)
c.1225C>T (p.Gln409Ter)
c.1177C>T (p.Gln393Ter)
c.1210C>T (p.Gln404Ter)
c.1279C>T (p.Gln427Ter)
c.1258C>T (p.Gln420Ter)
c.1255C>T (p.Gln419Ter)
c.1237C>T (p.Gln413Ter)
c.1201C>T (p.Gln401Ter)
c.1180C>T (p.Gln394Ter)
c.421+30639G>A (n.421+30639G>A)
n.440+30639G>A
n.242+38034G>A
c.943C>T (p.Gln315Ter)
c.1357C>T (p.Gln453Ter)
 dbSNP gnomAD v2
6g.32293448G>CCA363561661TSBP1,TSBP1-AS1c.1219C>G (p.Gln407Glu)
c.1222C>G (p.Gln408Glu)
c.1198C>G (p.Gln400Glu)
c.1225C>G (p.Gln409Glu)
c.1177C>G (p.Gln393Glu)
c.1210C>G (p.Gln404Glu)
c.1279C>G (p.Gln427Glu)
c.1258C>G (p.Gln420Glu)
c.1255C>G (p.Gln419Glu)
c.1237C>G (p.Gln413Glu)
c.1201C>G (p.Gln401Glu)
c.1180C>G (p.Gln394Glu)
c.421+30639G>C (n.421+30639G>C)
n.440+30639G>C
n.242+38034G>C
c.943C>G (p.Gln315Glu)
c.1357C>G (p.Gln453Glu)
 dbSNP gnomAD v2 gnomAD v4
6g.32293448G=CA1619500831TSBP1,TSBP1-AS1c.1219C= (p.Gln407=)
c.1222C= (p.Gln408=)
c.1198C= (p.Gln400=)
c.1225C= (p.Gln409=)
c.1177C= (p.Gln393=)
c.1210C= (p.Gln404=)
c.1279C= (p.Gln427=)
c.1258C= (p.Gln420=)
c.1255C= (p.Gln419=)
c.1237C= (p.Gln413=)
c.1201C= (p.Gln401=)
c.1180C= (p.Gln394=)
c.421+30639G= (n.421+30639G=)
n.440+30639G=
n.242+38034G=
c.943C= (p.Gln315=)
c.1357C= (p.Gln453=)
6g.32293448G>TCA363561660TSBP1,TSBP1-AS1c.1219C>A (p.Gln407Lys)
c.1222C>A (p.Gln408Lys)
c.1198C>A (p.Gln400Lys)
c.1225C>A (p.Gln409Lys)
c.1177C>A (p.Gln393Lys)
c.1210C>A (p.Gln404Lys)
c.1279C>A (p.Gln427Lys)
c.1258C>A (p.Gln420Lys)
c.1255C>A (p.Gln419Lys)
c.1237C>A (p.Gln413Lys)
c.1201C>A (p.Gln401Lys)
c.1180C>A (p.Gln394Lys)
c.421+30639G>T (n.421+30639G>T)
n.440+30639G>T
n.242+38034G>T
c.943C>A (p.Gln315Lys)
c.1357C>A (p.Gln453Lys)
6g.32293449T>ACA449829562TSBP1,TSBP1-AS1c.1218A>T (p.Gly406=)
c.1221A>T (p.Gly407=)
c.1197A>T (p.Gly399=)
c.1224A>T (p.Gly408=)
c.1176A>T (p.Gly392=)
c.1209A>T (p.Gly403=)
c.1278A>T (p.Gly426=)
c.1257A>T (p.Gly419=)
c.1254A>T (p.Gly418=)
c.1236A>T (p.Gly412=)
c.1200A>T (p.Gly400=)
c.1179A>T (p.Gly393=)
c.421+30640T>A (n.421+30640T>A)
n.440+30640T>A
n.242+38035T>A
c.942A>T (p.Gly314=)
c.1356A>T (p.Gly452=)
6g.32293449T>CCA449829564TSBP1,TSBP1-AS1c.1218A>G (p.Gly406=)
c.1221A>G (p.Gly407=)
c.1197A>G (p.Gly399=)
c.1224A>G (p.Gly408=)
c.1176A>G (p.Gly392=)
c.1209A>G (p.Gly403=)
c.1278A>G (p.Gly426=)
c.1257A>G (p.Gly419=)
c.1254A>G (p.Gly418=)
c.1236A>G (p.Gly412=)
c.1200A>G (p.Gly400=)
c.1179A>G (p.Gly393=)
c.421+30640T>C (n.421+30640T>C)
n.440+30640T>C
n.242+38035T>C
c.942A>G (p.Gly314=)
c.1356A>G (p.Gly452=)
6g.32293449T>GCA449829563TSBP1,TSBP1-AS1c.1218A>C (p.Gly406=)
c.1221A>C (p.Gly407=)
c.1197A>C (p.Gly399=)
c.1224A>C (p.Gly408=)
c.1176A>C (p.Gly392=)
c.1209A>C (p.Gly403=)
c.1278A>C (p.Gly426=)
c.1257A>C (p.Gly419=)
c.1254A>C (p.Gly418=)
c.1236A>C (p.Gly412=)
c.1200A>C (p.Gly400=)
c.1179A>C (p.Gly393=)
c.421+30640T>G (n.421+30640T>G)
n.440+30640T>G
n.242+38035T>G
c.942A>C (p.Gly314=)
c.1356A>C (p.Gly452=)
6g.32293450C>ACA363561662TSBP1,TSBP1-AS1c.1217G>T (p.Gly406Val)
c.1220G>T (p.Gly407Val)
c.1196G>T (p.Gly399Val)
c.1223G>T (p.Gly408Val)
c.1175G>T (p.Gly392Val)
c.1208G>T (p.Gly403Val)
c.1277G>T (p.Gly426Val)
c.1256G>T (p.Gly419Val)
c.1253G>T (p.Gly418Val)
c.1235G>T (p.Gly412Val)
c.1199G>T (p.Gly400Val)
c.1178G>T (p.Gly393Val)
c.421+30641C>A (n.421+30641C>A)
n.440+30641C>A
n.242+38036C>A
c.941G>T (p.Gly314Val)
c.1355G>T (p.Gly452Val)
6g.32293450C>GCA363561663TSBP1,TSBP1-AS1c.1217G>C (p.Gly406Ala)
c.1220G>C (p.Gly407Ala)
c.1196G>C (p.Gly399Ala)
c.1223G>C (p.Gly408Ala)
c.1175G>C (p.Gly392Ala)
c.1208G>C (p.Gly403Ala)
c.1277G>C (p.Gly426Ala)
c.1256G>C (p.Gly419Ala)
c.1253G>C (p.Gly418Ala)
c.1235G>C (p.Gly412Ala)
c.1199G>C (p.Gly400Ala)
c.1178G>C (p.Gly393Ala)
c.421+30641C>G (n.421+30641C>G)
n.440+30641C>G
n.242+38036C>G
c.941G>C (p.Gly314Ala)
c.1355G>C (p.Gly452Ala)
6g.32293450C>TCA363561664TSBP1,TSBP1-AS1c.1217G>A (p.Gly406Glu)
c.1220G>A (p.Gly407Glu)
c.1196G>A (p.Gly399Glu)
c.1223G>A (p.Gly408Glu)
c.1175G>A (p.Gly392Glu)
c.1208G>A (p.Gly403Glu)
c.1277G>A (p.Gly426Glu)
c.1256G>A (p.Gly419Glu)
c.1253G>A (p.Gly418Glu)
c.1235G>A (p.Gly412Glu)
c.1199G>A (p.Gly400Glu)
c.1178G>A (p.Gly393Glu)
c.421+30641C>T (n.421+30641C>T)
n.440+30641C>T
n.242+38036C>T
c.941G>A (p.Gly314Glu)
c.1355G>A (p.Gly452Glu)
 COSMIC
6g.32293451C>ACA363561665TSBP1,TSBP1-AS1c.1216G>T (p.Gly406Ter)
c.1219G>T (p.Gly407Ter)
c.1195G>T (p.Gly399Ter)
c.1222G>T (p.Gly408Ter)
c.1174G>T (p.Gly392Ter)
c.1207G>T (p.Gly403Ter)
c.1276G>T (p.Gly426Ter)
c.1255G>T (p.Gly419Ter)
c.1252G>T (p.Gly418Ter)
c.1234G>T (p.Gly412Ter)
c.1198G>T (p.Gly400Ter)
c.1177G>T (p.Gly393Ter)
c.421+30642C>A (n.421+30642C>A)
n.440+30642C>A
n.242+38037C>A
c.940G>T (p.Gly314Ter)
c.1354G>T (p.Gly452Ter)
6g.32293451C>GCA363561666TSBP1,TSBP1-AS1c.1216G>C (p.Gly406Arg)
c.1219G>C (p.Gly407Arg)
c.1195G>C (p.Gly399Arg)
c.1222G>C (p.Gly408Arg)
c.1174G>C (p.Gly392Arg)
c.1207G>C (p.Gly403Arg)
c.1276G>C (p.Gly426Arg)
c.1255G>C (p.Gly419Arg)
c.1252G>C (p.Gly418Arg)
c.1234G>C (p.Gly412Arg)
c.1198G>C (p.Gly400Arg)
c.1177G>C (p.Gly393Arg)
c.421+30642C>G (n.421+30642C>G)
n.440+30642C>G
n.242+38037C>G
c.940G>C (p.Gly314Arg)
c.1354G>C (p.Gly452Arg)
6g.32293451C>TCA363561667TSBP1,TSBP1-AS1c.1216G>A (p.Gly406Arg)
c.1219G>A (p.Gly407Arg)
c.1195G>A (p.Gly399Arg)
c.1222G>A (p.Gly408Arg)
c.1174G>A (p.Gly392Arg)
c.1207G>A (p.Gly403Arg)
c.1276G>A (p.Gly426Arg)
c.1255G>A (p.Gly419Arg)
c.1252G>A (p.Gly418Arg)
c.1234G>A (p.Gly412Arg)
c.1198G>A (p.Gly400Arg)
c.1177G>A (p.Gly393Arg)
c.421+30642C>T (n.421+30642C>T)
n.440+30642C>T
n.242+38037C>T
c.940G>A (p.Gly314Arg)
c.1354G>A (p.Gly452Arg)
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=)

Number of alleles fetched