Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.32293372_32293375delCA2678139196TSBP1,TSBP1-AS1c.1292_1295del (p.Ala431ValfsTer18)
c.1295_1298del (p.Ala432ValfsTer18)
c.1271_1274del (p.Ala424ValfsTer18)
c.1298_1301del (p.Ala433ValfsTer18)
c.1250_1253del (p.Ala417ValfsTer18)
c.1283_1286del (p.Ala428ValfsTer18)
c.1352_1355del (p.Ala451ValfsTer18)
c.1331_1334del (p.Ala444ValfsTer18)
c.1328_1331del (p.Ala443ValfsTer18)
c.1310_1313del (p.Ala437ValfsTer18)
c.1274_1277del (p.Ala425ValfsTer18)
c.1253_1256del (p.Ala418ValfsTer18)
c.421+30563_421+30566del (n.421+30563_421+30566del)
n.440+30563_440+30566del
n.242+37958_242+37961del
c.1016_1019del (p.Ala339ValfsTer18)
c.1430_1433del (p.Ala477ValfsTer18)
 gnomAD v4
6g.32293375G>ACA363561492TSBP1,TSBP1-AS1c.1292C>T (p.Ala431Val)
c.1295C>T (p.Ala432Val)
c.1271C>T (p.Ala424Val)
c.1298C>T (p.Ala433Val)
c.1250C>T (p.Ala417Val)
c.1283C>T (p.Ala428Val)
c.1352C>T (p.Ala451Val)
c.1331C>T (p.Ala444Val)
c.1328C>T (p.Ala443Val)
c.1310C>T (p.Ala437Val)
c.1274C>T (p.Ala425Val)
c.1253C>T (p.Ala418Val)
c.421+30566G>A (n.421+30566G>A)
n.440+30566G>A
n.242+37961G>A
c.1016C>T (p.Ala339Val)
c.1430C>T (p.Ala477Val)
6g.32293375G>CCA363561493TSBP1,TSBP1-AS1c.1292C>G (p.Ala431Gly)
c.1295C>G (p.Ala432Gly)
c.1271C>G (p.Ala424Gly)
c.1298C>G (p.Ala433Gly)
c.1250C>G (p.Ala417Gly)
c.1283C>G (p.Ala428Gly)
c.1352C>G (p.Ala451Gly)
c.1331C>G (p.Ala444Gly)
c.1328C>G (p.Ala443Gly)
c.1310C>G (p.Ala437Gly)
c.1274C>G (p.Ala425Gly)
c.1253C>G (p.Ala418Gly)
c.421+30566G>C (n.421+30566G>C)
n.440+30566G>C
n.242+37961G>C
c.1016C>G (p.Ala339Gly)
c.1430C>G (p.Ala477Gly)
 COSMIC
6g.32293375G=CA1619500808TSBP1,TSBP1-AS1c.1292C= (p.Ala431=)
c.1295C= (p.Ala432=)
c.1271C= (p.Ala424=)
c.1298C= (p.Ala433=)
c.1250C= (p.Ala417=)
c.1283C= (p.Ala428=)
c.1352C= (p.Ala451=)
c.1331C= (p.Ala444=)
c.1328C= (p.Ala443=)
c.1310C= (p.Ala437=)
c.1274C= (p.Ala425=)
c.1253C= (p.Ala418=)
c.421+30566G= (n.421+30566G=)
n.440+30566G=
n.242+37961G=
c.1016C= (p.Ala339=)
c.1430C= (p.Ala477=)
6g.32293375G>TCA363561491TSBP1,TSBP1-AS1c.1292C>A (p.Ala431Glu)
c.1295C>A (p.Ala432Glu)
c.1271C>A (p.Ala424Glu)
c.1298C>A (p.Ala433Glu)
c.1250C>A (p.Ala417Glu)
c.1283C>A (p.Ala428Glu)
c.1352C>A (p.Ala451Glu)
c.1331C>A (p.Ala444Glu)
c.1328C>A (p.Ala443Glu)
c.1310C>A (p.Ala437Glu)
c.1274C>A (p.Ala425Glu)
c.1253C>A (p.Ala418Glu)
c.421+30566G>T (n.421+30566G>T)
n.440+30566G>T
n.242+37961G>T
c.1016C>A (p.Ala339Glu)
c.1430C>A (p.Ala477Glu)
 dbSNP gnomAD v4
6g.32293376C>ACA363561495TSBP1,TSBP1-AS1c.1291G>T (p.Ala431Ser)
c.1294G>T (p.Ala432Ser)
c.1270G>T (p.Ala424Ser)
c.1297G>T (p.Ala433Ser)
c.1249G>T (p.Ala417Ser)
c.1282G>T (p.Ala428Ser)
c.1351G>T (p.Ala451Ser)
c.1330G>T (p.Ala444Ser)
c.1327G>T (p.Ala443Ser)
c.1309G>T (p.Ala437Ser)
c.1273G>T (p.Ala425Ser)
c.1252G>T (p.Ala418Ser)
c.421+30567C>A (n.421+30567C>A)
n.440+30567C>A
n.242+37962C>A
c.1015G>T (p.Ala339Ser)
c.1429G>T (p.Ala477Ser)
6g.32293376C=CA1619500809TSBP1,TSBP1-AS1c.1291G= (p.Ala431=)
c.1294G= (p.Ala432=)
c.1270G= (p.Ala424=)
c.1297G= (p.Ala433=)
c.1249G= (p.Ala417=)
c.1282G= (p.Ala428=)
c.1351G= (p.Ala451=)
c.1330G= (p.Ala444=)
c.1327G= (p.Ala443=)
c.1309G= (p.Ala437=)
c.1273G= (p.Ala425=)
c.1252G= (p.Ala418=)
c.421+30567C= (n.421+30567C=)
n.440+30567C=
n.242+37962C=
c.1015G= (p.Ala339=)
c.1429G= (p.Ala477=)
6g.32293376C>GCA363561494TSBP1,TSBP1-AS1c.1291G>C (p.Ala431Pro)
c.1294G>C (p.Ala432Pro)
c.1270G>C (p.Ala424Pro)
c.1297G>C (p.Ala433Pro)
c.1249G>C (p.Ala417Pro)
c.1282G>C (p.Ala428Pro)
c.1351G>C (p.Ala451Pro)
c.1330G>C (p.Ala444Pro)
c.1327G>C (p.Ala443Pro)
c.1309G>C (p.Ala437Pro)
c.1273G>C (p.Ala425Pro)
c.1252G>C (p.Ala418Pro)
c.421+30567C>G (n.421+30567C>G)
n.440+30567C>G
n.242+37962C>G
c.1015G>C (p.Ala339Pro)
c.1429G>C (p.Ala477Pro)
6g.32293376C>TCA3740499TSBP1,TSBP1-AS1c.1291G>A (p.Ala431Thr)
c.1294G>A (p.Ala432Thr)
c.1270G>A (p.Ala424Thr)
c.1297G>A (p.Ala433Thr)
c.1249G>A (p.Ala417Thr)
c.1282G>A (p.Ala428Thr)
c.1351G>A (p.Ala451Thr)
c.1330G>A (p.Ala444Thr)
c.1327G>A (p.Ala443Thr)
c.1309G>A (p.Ala437Thr)
c.1273G>A (p.Ala425Thr)
c.1252G>A (p.Ala418Thr)
c.421+30567C>T (n.421+30567C>T)
n.440+30567C>T
n.242+37962C>T
c.1015G>A (p.Ala339Thr)
c.1429G>A (p.Ala477Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293377C>ACA363561496TSBP1,TSBP1-AS1c.1290G>T (p.Glu430Asp)
c.1293G>T (p.Glu431Asp)
c.1269G>T (p.Glu423Asp)
c.1296G>T (p.Glu432Asp)
c.1248G>T (p.Glu416Asp)
c.1281G>T (p.Glu427Asp)
c.1350G>T (p.Glu450Asp)
c.1329G>T (p.Glu443Asp)
c.1326G>T (p.Glu442Asp)
c.1308G>T (p.Glu436Asp)
c.1272G>T (p.Glu424Asp)
c.1251G>T (p.Glu417Asp)
c.421+30568C>A (n.421+30568C>A)
n.440+30568C>A
n.242+37963C>A
c.1014G>T (p.Glu338Asp)
c.1428G>T (p.Glu476Asp)
6g.32293377C>GCA363561497TSBP1,TSBP1-AS1c.1290G>C (p.Glu430Asp)
c.1293G>C (p.Glu431Asp)
c.1269G>C (p.Glu423Asp)
c.1296G>C (p.Glu432Asp)
c.1248G>C (p.Glu416Asp)
c.1281G>C (p.Glu427Asp)
c.1350G>C (p.Glu450Asp)
c.1329G>C (p.Glu443Asp)
c.1326G>C (p.Glu442Asp)
c.1308G>C (p.Glu436Asp)
c.1272G>C (p.Glu424Asp)
c.1251G>C (p.Glu417Asp)
c.421+30568C>G (n.421+30568C>G)
n.440+30568C>G
n.242+37963C>G
c.1014G>C (p.Glu338Asp)
c.1428G>C (p.Glu476Asp)
6g.32293377C>TCA449829429TSBP1,TSBP1-AS1c.1290G>A (p.Glu430=)
c.1293G>A (p.Glu431=)
c.1269G>A (p.Glu423=)
c.1296G>A (p.Glu432=)
c.1248G>A (p.Glu416=)
c.1281G>A (p.Glu427=)
c.1350G>A (p.Glu450=)
c.1329G>A (p.Glu443=)
c.1326G>A (p.Glu442=)
c.1308G>A (p.Glu436=)
c.1272G>A (p.Glu424=)
c.1251G>A (p.Glu417=)
c.421+30568C>T (n.421+30568C>T)
n.440+30568C>T
n.242+37963C>T
c.1014G>A (p.Glu338=)
c.1428G>A (p.Glu476=)
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

Number of alleles fetched