Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.32293230_32293319delCA2678139190TSBP1,TSBP1-AS1c.1355_1444del (p.Pro452_Gly481del)
c.1358_1447del (p.Pro453_Gly482del)
c.1334_1359+64del
c.1361_1450del (p.Pro454_Gly483del)
c.1313_1402del (p.Pro438_Gly467del)
c.1346_1435del (p.Pro449_Gly478del)
c.1415_1504del (p.Pro472_Gly501del)
c.1394_1483del (p.Pro465_Gly494del)
c.1391_1480del (p.Pro464_Gly493del)
c.1373_1462del (p.Pro458_Gly487del)
c.1337_1426del (p.Pro446_Gly475del)
c.1334_1423del (p.Pro445_Gly474del)
c.1316_1405del (p.Pro439_Gly468del)
c.421+30421_421+30510del (n.421+30421_421+30510del)
n.440+30421_440+30510del
n.242+37816_242+37905del
c.1079_1168del (p.Pro360_Gly389del)
c.1493_1582del (p.Pro498_Gly527del)
 gnomAD v4
6g.32293241_32293330delCA2678139191TSBP1,TSBP1-AS1c.1347_1436del (p.Lys450_Leu479del)
c.1350_1439del (p.Lys451_Leu480del)
c.1326_1359+56del
c.1353_1442del (p.Lys452_Leu481del)
c.1305_1394del (p.Lys436_Leu465del)
c.1338_1427del (p.Lys447_Leu476del)
c.1407_1496del (p.Lys470_Leu499del)
c.1386_1475del (p.Lys463_Leu492del)
c.1383_1472del (p.Lys462_Leu491del)
c.1365_1454del (p.Lys456_Leu485del)
c.1329_1418del (p.Lys444_Leu473del)
c.1326_1415del (p.Lys443_Leu472del)
c.1308_1397del (p.Lys437_Leu466del)
c.421+30432_421+30521del (n.421+30432_421+30521del)
n.440+30432_440+30521del
n.242+37827_242+37916del
c.1071_1160del (p.Lys358_Leu387del)
c.1485_1574del (p.Lys496_Leu525del)
 gnomAD v4
6g.32293281_32293283delinsACTCA1619500772TSBP1,TSBP1-AS1c.1384_1386delinsAGT (p.Ser462=)
c.1387_1389delinsAGT (p.Ser463=)
c.1359+4_1359+6delinsAGT (n.1359+4_1359+6delinsAGT)
c.1390_1392delinsAGT (p.Ser464=)
c.1342_1344delinsAGT (p.Ser448=)
c.1375_1377delinsAGT (p.Ser459=)
c.1444_1446delinsAGT (p.Ser482=)
c.1423_1425delinsAGT (p.Ser475=)
c.1420_1422delinsAGT (p.Ser474=)
c.1402_1404delinsAGT (p.Ser468=)
c.1366_1368delinsAGT (p.Ser456=)
c.1363_1365delinsAGT (p.Ser455=)
c.1345_1347delinsAGT (p.Ser449=)
c.421+30472_421+30474delinsACT (n.421+30472_421+30474delinsACT)
n.440+30472_440+30474delinsACT
n.242+37867_242+37869delinsACT
c.1108_1110delinsAGT (p.Ser370=)
c.1522_1524delinsAGT (p.Ser508=)
6g.32293283_32293284delCA3740480TSBP1,TSBP1-AS1c.1384_1385del (p.Ser462CysfsTer13)
c.1387_1388del (p.Ser463CysfsTer13)
c.1359+4_1359+5del (n.1359+4_1359+5del)
c.1390_1391del (p.Ser464CysfsTer13)
c.1342_1343del (p.Ser448CysfsTer13)
c.1375_1376del (p.Ser459CysfsTer13)
c.1444_1445del (p.Ser482CysfsTer13)
c.1423_1424del (p.Ser475CysfsTer13)
c.1420_1421del (p.Ser474CysfsTer13)
c.1402_1403del (p.Ser468CysfsTer13)
c.1366_1367del (p.Ser456CysfsTer13)
c.1363_1364del (p.Ser455CysfsTer13)
c.1345_1346del (p.Ser449CysfsTer13)
c.421+30474_421+30475del (n.421+30474_421+30475del)
n.440+30474_440+30475del
n.242+37869_242+37870del
c.1108_1109del (p.Ser370CysfsTer13)
c.1522_1523del (p.Ser508CysfsTer13)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32293283T>ACA363561291TSBP1,TSBP1-AS1c.1384A>T (p.Ser462Cys)
c.1387A>T (p.Ser463Cys)
c.1359+4A>T (n.1359+4A>T)
c.1390A>T (p.Ser464Cys)
c.1342A>T (p.Ser448Cys)
c.1375A>T (p.Ser459Cys)
c.1444A>T (p.Ser482Cys)
c.1423A>T (p.Ser475Cys)
c.1420A>T (p.Ser474Cys)
c.1402A>T (p.Ser468Cys)
c.1366A>T (p.Ser456Cys)
c.1363A>T (p.Ser455Cys)
c.1345A>T (p.Ser449Cys)
c.421+30474T>A (n.421+30474T>A)
n.440+30474T>A
n.242+37869T>A
c.1108A>T (p.Ser370Cys)
c.1522A>T (p.Ser508Cys)
6g.32293283T>CCA363561292TSBP1,TSBP1-AS1c.1384A>G (p.Ser462Gly)
c.1387A>G (p.Ser463Gly)
c.1359+4A>G (n.1359+4A>G)
c.1390A>G (p.Ser464Gly)
c.1342A>G (p.Ser448Gly)
c.1375A>G (p.Ser459Gly)
c.1444A>G (p.Ser482Gly)
c.1423A>G (p.Ser475Gly)
c.1420A>G (p.Ser474Gly)
c.1402A>G (p.Ser468Gly)
c.1366A>G (p.Ser456Gly)
c.1363A>G (p.Ser455Gly)
c.1345A>G (p.Ser449Gly)
c.421+30474T>C (n.421+30474T>C)
n.440+30474T>C
n.242+37869T>C
c.1108A>G (p.Ser370Gly)
c.1522A>G (p.Ser508Gly)
 dbSNP
6g.32293283T>GCA363561293TSBP1,TSBP1-AS1c.1384A>C (p.Ser462Arg)
c.1387A>C (p.Ser463Arg)
c.1359+4A>C (n.1359+4A>C)
c.1390A>C (p.Ser464Arg)
c.1342A>C (p.Ser448Arg)
c.1375A>C (p.Ser459Arg)
c.1444A>C (p.Ser482Arg)
c.1423A>C (p.Ser475Arg)
c.1420A>C (p.Ser474Arg)
c.1402A>C (p.Ser468Arg)
c.1366A>C (p.Ser456Arg)
c.1363A>C (p.Ser455Arg)
c.1345A>C (p.Ser449Arg)
c.421+30474T>G (n.421+30474T>G)
n.440+30474T>G
n.242+37869T>G
c.1108A>C (p.Ser370Arg)
c.1522A>C (p.Ser508Arg)
6g.32293283T=CA1619500773TSBP1,TSBP1-AS1c.1384A= (p.Ser462=)
c.1387A= (p.Ser463=)
c.1359+4A= (n.1359+4A=)
c.1390A= (p.Ser464=)
c.1342A= (p.Ser448=)
c.1375A= (p.Ser459=)
c.1444A= (p.Ser482=)
c.1423A= (p.Ser475=)
c.1420A= (p.Ser474=)
c.1402A= (p.Ser468=)
c.1366A= (p.Ser456=)
c.1363A= (p.Ser455=)
c.1345A= (p.Ser449=)
c.421+30474T= (n.421+30474T=)
n.440+30474T=
n.242+37869T=
c.1108A= (p.Ser370=)
c.1522A= (p.Ser508=)
6g.32293284C>ACA449829677TSBP1,TSBP1-AS1c.1383G>T (p.Val461=)
c.1386G>T (p.Val462=)
c.1359+3G>T (n.1359+3G>T)
c.1389G>T (p.Val463=)
c.1341G>T (p.Val447=)
c.1374G>T (p.Val458=)
c.1443G>T (p.Val481=)
c.1422G>T (p.Val474=)
c.1419G>T (p.Val473=)
c.1401G>T (p.Val467=)
c.1365G>T (p.Val455=)
c.1362G>T (p.Val454=)
c.1344G>T (p.Val448=)
c.421+30475C>A (n.421+30475C>A)
n.440+30475C>A
n.242+37870C>A
c.1107G>T (p.Val369=)
c.1521G>T (p.Val507=)
 dbSNP gnomAD v2 gnomAD v4
6g.32293284C=CA1619500774TSBP1,TSBP1-AS1c.1383G= (p.Val461=)
c.1386G= (p.Val462=)
c.1359+3G= (n.1359+3G=)
c.1389G= (p.Val463=)
c.1341G= (p.Val447=)
c.1374G= (p.Val458=)
c.1443G= (p.Val481=)
c.1422G= (p.Val474=)
c.1419G= (p.Val473=)
c.1401G= (p.Val467=)
c.1365G= (p.Val455=)
c.1362G= (p.Val454=)
c.1344G= (p.Val448=)
c.421+30475C= (n.421+30475C=)
n.440+30475C=
n.242+37870C=
c.1107G= (p.Val369=)
c.1521G= (p.Val507=)
6g.32293284C>GCA449829678TSBP1,TSBP1-AS1c.1383G>C (p.Val461=)
c.1386G>C (p.Val462=)
c.1359+3G>C (n.1359+3G>C)
c.1389G>C (p.Val463=)
c.1341G>C (p.Val447=)
c.1374G>C (p.Val458=)
c.1443G>C (p.Val481=)
c.1422G>C (p.Val474=)
c.1419G>C (p.Val473=)
c.1401G>C (p.Val467=)
c.1365G>C (p.Val455=)
c.1362G>C (p.Val454=)
c.1344G>C (p.Val448=)
c.421+30475C>G (n.421+30475C>G)
n.440+30475C>G
n.242+37870C>G
c.1107G>C (p.Val369=)
c.1521G>C (p.Val507=)
6g.32293284C>TCA449829679TSBP1,TSBP1-AS1c.1383G>A (p.Val461=)
c.1386G>A (p.Val462=)
c.1359+3G>A (n.1359+3G>A)
c.1389G>A (p.Val463=)
c.1341G>A (p.Val447=)
c.1374G>A (p.Val458=)
c.1443G>A (p.Val481=)
c.1422G>A (p.Val474=)
c.1419G>A (p.Val473=)
c.1401G>A (p.Val467=)
c.1365G>A (p.Val455=)
c.1362G>A (p.Val454=)
c.1344G>A (p.Val448=)
c.421+30475C>T (n.421+30475C>T)
n.440+30475C>T
n.242+37870C>T
c.1107G>A (p.Val369=)
c.1521G>A (p.Val507=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.32293285A>CCA363561296TSBP1,TSBP1-AS1c.1382T>G (p.Val461Gly)
c.1385T>G (p.Val462Gly)
c.1359+2T>G (n.1359+2T>G)
c.1388T>G (p.Val463Gly)
c.1340T>G (p.Val447Gly)
c.1373T>G (p.Val458Gly)
c.1442T>G (p.Val481Gly)
c.1421T>G (p.Val474Gly)
c.1418T>G (p.Val473Gly)
c.1400T>G (p.Val467Gly)
c.1364T>G (p.Val455Gly)
c.1361T>G (p.Val454Gly)
c.1343T>G (p.Val448Gly)
c.421+30476A>C (n.421+30476A>C)
n.440+30476A>C
n.242+37871A>C
c.1106T>G (p.Val369Gly)
c.1520T>G (p.Val507Gly)
6g.32293285A>GCA363561295TSBP1,TSBP1-AS1c.1382T>C (p.Val461Ala)
c.1385T>C (p.Val462Ala)
c.1359+2T>C (n.1359+2T>C)
c.1388T>C (p.Val463Ala)
c.1340T>C (p.Val447Ala)
c.1373T>C (p.Val458Ala)
c.1442T>C (p.Val481Ala)
c.1421T>C (p.Val474Ala)
c.1418T>C (p.Val473Ala)
c.1400T>C (p.Val467Ala)
c.1364T>C (p.Val455Ala)
c.1361T>C (p.Val454Ala)
c.1343T>C (p.Val448Ala)
c.421+30476A>G (n.421+30476A>G)
n.440+30476A>G
n.242+37871A>G
c.1106T>C (p.Val369Ala)
c.1520T>C (p.Val507Ala)
6g.32293285A>TCA363561294TSBP1,TSBP1-AS1c.1382T>A (p.Val461Glu)
c.1385T>A (p.Val462Glu)
c.1359+2T>A (n.1359+2T>A)
c.1388T>A (p.Val463Glu)
c.1340T>A (p.Val447Glu)
c.1373T>A (p.Val458Glu)
c.1442T>A (p.Val481Glu)
c.1421T>A (p.Val474Glu)
c.1418T>A (p.Val473Glu)
c.1400T>A (p.Val467Glu)
c.1364T>A (p.Val455Glu)
c.1361T>A (p.Val454Glu)
c.1343T>A (p.Val448Glu)
c.421+30476A>T (n.421+30476A>T)
n.440+30476A>T
n.242+37871A>T
c.1106T>A (p.Val369Glu)
c.1520T>A (p.Val507Glu)
6g.32293286C>ACA3740481TSBP1,TSBP1-AS1c.1381G>T (p.Val461Leu)
c.1384G>T (p.Val462Leu)
c.1359+1G>T (n.1359+1G>T)
c.1387G>T (p.Val463Leu)
c.1339G>T (p.Val447Leu)
c.1372G>T (p.Val458Leu)
c.1441G>T (p.Val481Leu)
c.1420G>T (p.Val474Leu)
c.1417G>T (p.Val473Leu)
c.1399G>T (p.Val467Leu)
c.1363G>T (p.Val455Leu)
c.1360G>T (p.Val454Leu)
c.1342G>T (p.Val448Leu)
c.421+30477C>A (n.421+30477C>A)
n.440+30477C>A
n.242+37872C>A
c.1105G>T (p.Val369Leu)
c.1519G>T (p.Val507Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293286C=CA1619500775TSBP1,TSBP1-AS1c.1381G= (p.Val461=)
c.1384G= (p.Val462=)
c.1359+1G= (n.1359+1G=)
c.1387G= (p.Val463=)
c.1339G= (p.Val447=)
c.1372G= (p.Val458=)
c.1441G= (p.Val481=)
c.1420G= (p.Val474=)
c.1417G= (p.Val473=)
c.1399G= (p.Val467=)
c.1363G= (p.Val455=)
c.1360G= (p.Val454=)
c.1342G= (p.Val448=)
c.421+30477C= (n.421+30477C=)
n.440+30477C=
n.242+37872C=
c.1105G= (p.Val369=)
c.1519G= (p.Val507=)
6g.32293286C>GCA363561297TSBP1,TSBP1-AS1c.1381G>C (p.Val461Leu)
c.1384G>C (p.Val462Leu)
c.1359+1G>C (n.1359+1G>C)
c.1387G>C (p.Val463Leu)
c.1339G>C (p.Val447Leu)
c.1372G>C (p.Val458Leu)
c.1441G>C (p.Val481Leu)
c.1420G>C (p.Val474Leu)
c.1417G>C (p.Val473Leu)
c.1399G>C (p.Val467Leu)
c.1363G>C (p.Val455Leu)
c.1360G>C (p.Val454Leu)
c.1342G>C (p.Val448Leu)
c.421+30477C>G (n.421+30477C>G)
n.440+30477C>G
n.242+37872C>G
c.1105G>C (p.Val369Leu)
c.1519G>C (p.Val507Leu)
 gnomAD v4
6g.32293286C>TCA3740482TSBP1,TSBP1-AS1c.1381G>A (p.Val461Met)
c.1384G>A (p.Val462Met)
c.1359+1G>A (n.1359+1G>A)
c.1387G>A (p.Val463Met)
c.1339G>A (p.Val447Met)
c.1372G>A (p.Val458Met)
c.1441G>A (p.Val481Met)
c.1420G>A (p.Val474Met)
c.1417G>A (p.Val473Met)
c.1399G>A (p.Val467Met)
c.1363G>A (p.Val455Met)
c.1360G>A (p.Val454Met)
c.1342G>A (p.Val448Met)
c.421+30477C>T (n.421+30477C>T)
n.440+30477C>T
n.242+37872C>T
c.1105G>A (p.Val369Met)
c.1519G>A (p.Val507Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32293287C>ACA3740483TSBP1,TSBP1-AS1c.1380G>T (p.Glu460Asp)
c.1383G>T (p.Glu461Asp)
c.1359G>T (p.Glu453Asp)
c.1386G>T (p.Glu462Asp)
c.1338G>T (p.Glu446Asp)
c.1371G>T (p.Glu457Asp)
c.1440G>T (p.Glu480Asp)
c.1419G>T (p.Glu473Asp)
c.1416G>T (p.Glu472Asp)
c.1398G>T (p.Glu466Asp)
c.1362G>T (p.Glu454Asp)
c.1341G>T (p.Glu447Asp)
c.421+30478C>A (n.421+30478C>A)
n.440+30478C>A
n.242+37873C>A
c.1104G>T (p.Glu368Asp)
c.1518G>T (p.Glu506Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293287C=CA1619500776TSBP1,TSBP1-AS1c.1380G= (p.Glu460=)
c.1383G= (p.Glu461=)
c.1359G= (p.Glu453=)
c.1386G= (p.Glu462=)
c.1338G= (p.Glu446=)
c.1371G= (p.Glu457=)
c.1440G= (p.Glu480=)
c.1419G= (p.Glu473=)
c.1416G= (p.Glu472=)
c.1398G= (p.Glu466=)
c.1362G= (p.Glu454=)
c.1341G= (p.Glu447=)
c.421+30478C= (n.421+30478C=)
n.440+30478C=
n.242+37873C=
c.1104G= (p.Glu368=)
c.1518G= (p.Glu506=)
6g.32293287C>GCA363561298TSBP1,TSBP1-AS1c.1380G>C (p.Glu460Asp)
c.1383G>C (p.Glu461Asp)
c.1359G>C (p.Glu453Asp)
c.1386G>C (p.Glu462Asp)
c.1338G>C (p.Glu446Asp)
c.1371G>C (p.Glu457Asp)
c.1440G>C (p.Glu480Asp)
c.1419G>C (p.Glu473Asp)
c.1416G>C (p.Glu472Asp)
c.1398G>C (p.Glu466Asp)
c.1362G>C (p.Glu454Asp)
c.1341G>C (p.Glu447Asp)
c.421+30478C>G (n.421+30478C>G)
n.440+30478C>G
n.242+37873C>G
c.1104G>C (p.Glu368Asp)
c.1518G>C (p.Glu506Asp)
 dbSNP gnomAD v2 gnomAD v4
6g.32293287C>TCA449829683TSBP1,TSBP1-AS1c.1380G>A (p.Glu460=)
c.1383G>A (p.Glu461=)
c.1359G>A (p.Glu453=)
c.1386G>A (p.Glu462=)
c.1338G>A (p.Glu446=)
c.1371G>A (p.Glu457=)
c.1440G>A (p.Glu480=)
c.1419G>A (p.Glu473=)
c.1416G>A (p.Glu472=)
c.1398G>A (p.Glu466=)
c.1362G>A (p.Glu454=)
c.1341G>A (p.Glu447=)
c.421+30478C>T (n.421+30478C>T)
n.440+30478C>T
n.242+37873C>T
c.1104G>A (p.Glu368=)
c.1518G>A (p.Glu506=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.32293288T>ACA363561301TSBP1,TSBP1-AS1c.1379A>T (p.Glu460Val)
c.1382A>T (p.Glu461Val)
c.1358A>T (p.Glu453Val)
c.1385A>T (p.Glu462Val)
c.1337A>T (p.Glu446Val)
c.1370A>T (p.Glu457Val)
c.1439A>T (p.Glu480Val)
c.1418A>T (p.Glu473Val)
c.1415A>T (p.Glu472Val)
c.1397A>T (p.Glu466Val)
c.1361A>T (p.Glu454Val)
c.1340A>T (p.Glu447Val)
c.421+30479T>A (n.421+30479T>A)
n.440+30479T>A
n.242+37874T>A
c.1103A>T (p.Glu368Val)
c.1517A>T (p.Glu506Val)
6g.32293288T>CCA363561300TSBP1,TSBP1-AS1c.1379A>G (p.Glu460Gly)
c.1382A>G (p.Glu461Gly)
c.1358A>G (p.Glu453Gly)
c.1385A>G (p.Glu462Gly)
c.1337A>G (p.Glu446Gly)
c.1370A>G (p.Glu457Gly)
c.1439A>G (p.Glu480Gly)
c.1418A>G (p.Glu473Gly)
c.1415A>G (p.Glu472Gly)
c.1397A>G (p.Glu466Gly)
c.1361A>G (p.Glu454Gly)
c.1340A>G (p.Glu447Gly)
c.421+30479T>C (n.421+30479T>C)
n.440+30479T>C
n.242+37874T>C
c.1103A>G (p.Glu368Gly)
c.1517A>G (p.Glu506Gly)
6g.32293288T>GCA363561299TSBP1,TSBP1-AS1c.1379A>C (p.Glu460Ala)
c.1382A>C (p.Glu461Ala)
c.1358A>C (p.Glu453Ala)
c.1385A>C (p.Glu462Ala)
c.1337A>C (p.Glu446Ala)
c.1370A>C (p.Glu457Ala)
c.1439A>C (p.Glu480Ala)
c.1418A>C (p.Glu473Ala)
c.1415A>C (p.Glu472Ala)
c.1397A>C (p.Glu466Ala)
c.1361A>C (p.Glu454Ala)
c.1340A>C (p.Glu447Ala)
c.421+30479T>G (n.421+30479T>G)
n.440+30479T>G
n.242+37874T>G
c.1103A>C (p.Glu368Ala)
c.1517A>C (p.Glu506Ala)
6g.32293289C>ACA363561302TSBP1,TSBP1-AS1c.1378G>T (p.Glu460Ter)
c.1381G>T (p.Glu461Ter)
c.1357G>T (p.Glu453Ter)
c.1384G>T (p.Glu462Ter)
c.1336G>T (p.Glu446Ter)
c.1369G>T (p.Glu457Ter)
c.1438G>T (p.Glu480Ter)
c.1417G>T (p.Glu473Ter)
c.1414G>T (p.Glu472Ter)
c.1396G>T (p.Glu466Ter)
c.1360G>T (p.Glu454Ter)
c.1339G>T (p.Glu447Ter)
c.421+30480C>A (n.421+30480C>A)
n.440+30480C>A
n.242+37875C>A
c.1102G>T (p.Glu368Ter)
c.1516G>T (p.Glu506Ter)
6g.32293289C>GCA363561303TSBP1,TSBP1-AS1c.1378G>C (p.Glu460Gln)
c.1381G>C (p.Glu461Gln)
c.1357G>C (p.Glu453Gln)
c.1384G>C (p.Glu462Gln)
c.1336G>C (p.Glu446Gln)
c.1369G>C (p.Glu457Gln)
c.1438G>C (p.Glu480Gln)
c.1417G>C (p.Glu473Gln)
c.1414G>C (p.Glu472Gln)
c.1396G>C (p.Glu466Gln)
c.1360G>C (p.Glu454Gln)
c.1339G>C (p.Glu447Gln)
c.421+30480C>G (n.421+30480C>G)
n.440+30480C>G
n.242+37875C>G
c.1102G>C (p.Glu368Gln)
c.1516G>C (p.Glu506Gln)
 COSMIC
6g.32293289C>TCA363561304TSBP1,TSBP1-AS1c.1378G>A (p.Glu460Lys)
c.1381G>A (p.Glu461Lys)
c.1357G>A (p.Glu453Lys)
c.1384G>A (p.Glu462Lys)
c.1336G>A (p.Glu446Lys)
c.1369G>A (p.Glu457Lys)
c.1438G>A (p.Glu480Lys)
c.1417G>A (p.Glu473Lys)
c.1414G>A (p.Glu472Lys)
c.1396G>A (p.Glu466Lys)
c.1360G>A (p.Glu454Lys)
c.1339G>A (p.Glu447Lys)
c.421+30480C>T (n.421+30480C>T)
n.440+30480C>T
n.242+37875C>T
c.1102G>A (p.Glu368Lys)
c.1516G>A (p.Glu506Lys)
6g.32293290A>CCA449829685TSBP1,TSBP1-AS1c.1377T>G (p.Thr459=)
c.1380T>G (p.Thr460=)
c.1356T>G (p.Thr452=)
c.1383T>G (p.Thr461=)
c.1335T>G (p.Thr445=)
c.1368T>G (p.Thr456=)
c.1437T>G (p.Thr479=)
c.1416T>G (p.Thr472=)
c.1413T>G (p.Thr471=)
c.1395T>G (p.Thr465=)
c.1359T>G (p.Thr453=)
c.1338T>G (p.Thr446=)
c.421+30481A>C (n.421+30481A>C)
n.440+30481A>C
n.242+37876A>C
c.1101T>G (p.Thr367=)
c.1515T>G (p.Thr505=)
6g.32293290A>GCA449829686TSBP1,TSBP1-AS1c.1377T>C (p.Thr459=)
c.1380T>C (p.Thr460=)
c.1356T>C (p.Thr452=)
c.1383T>C (p.Thr461=)
c.1335T>C (p.Thr445=)
c.1368T>C (p.Thr456=)
c.1437T>C (p.Thr479=)
c.1416T>C (p.Thr472=)
c.1413T>C (p.Thr471=)
c.1395T>C (p.Thr465=)
c.1359T>C (p.Thr453=)
c.1338T>C (p.Thr446=)
c.421+30481A>G (n.421+30481A>G)
n.440+30481A>G
n.242+37876A>G
c.1101T>C (p.Thr367=)
c.1515T>C (p.Thr505=)
 gnomAD v4
6g.32293290A>TCA449829687TSBP1,TSBP1-AS1c.1377T>A (p.Thr459=)
c.1380T>A (p.Thr460=)
c.1356T>A (p.Thr452=)
c.1383T>A (p.Thr461=)
c.1335T>A (p.Thr445=)
c.1368T>A (p.Thr456=)
c.1437T>A (p.Thr479=)
c.1416T>A (p.Thr472=)
c.1413T>A (p.Thr471=)
c.1395T>A (p.Thr465=)
c.1359T>A (p.Thr453=)
c.1338T>A (p.Thr446=)
c.421+30481A>T (n.421+30481A>T)
n.440+30481A>T
n.242+37876A>T
c.1101T>A (p.Thr367=)
c.1515T>A (p.Thr505=)
6g.32293291G>ACA3740484TSBP1,TSBP1-AS1c.1376C>T (p.Thr459Ile)
c.1379C>T (p.Thr460Ile)
c.1355C>T (p.Thr452Ile)
c.1382C>T (p.Thr461Ile)
c.1334C>T (p.Thr445Ile)
c.1367C>T (p.Thr456Ile)
c.1436C>T (p.Thr479Ile)
c.1415C>T (p.Thr472Ile)
c.1412C>T (p.Thr471Ile)
c.1394C>T (p.Thr465Ile)
c.1358C>T (p.Thr453Ile)
c.1337C>T (p.Thr446Ile)
c.421+30482G>A (n.421+30482G>A)
n.440+30482G>A
n.242+37877G>A
c.1100C>T (p.Thr367Ile)
c.1514C>T (p.Thr505Ile)
 dbSNP ExAC gnomAD v2
6g.32293291G>CCA363561305TSBP1,TSBP1-AS1c.1376C>G (p.Thr459Ser)
c.1379C>G (p.Thr460Ser)
c.1355C>G (p.Thr452Ser)
c.1382C>G (p.Thr461Ser)
c.1334C>G (p.Thr445Ser)
c.1367C>G (p.Thr456Ser)
c.1436C>G (p.Thr479Ser)
c.1415C>G (p.Thr472Ser)
c.1412C>G (p.Thr471Ser)
c.1394C>G (p.Thr465Ser)
c.1358C>G (p.Thr453Ser)
c.1337C>G (p.Thr446Ser)
c.421+30482G>C (n.421+30482G>C)
n.440+30482G>C
n.242+37877G>C
c.1100C>G (p.Thr367Ser)
c.1514C>G (p.Thr505Ser)
6g.32293291G=CA1619500777TSBP1,TSBP1-AS1c.1376C= (p.Thr459=)
c.1379C= (p.Thr460=)
c.1355C= (p.Thr452=)
c.1382C= (p.Thr461=)
c.1334C= (p.Thr445=)
c.1367C= (p.Thr456=)
c.1436C= (p.Thr479=)
c.1415C= (p.Thr472=)
c.1412C= (p.Thr471=)
c.1394C= (p.Thr465=)
c.1358C= (p.Thr453=)
c.1337C= (p.Thr446=)
c.421+30482G= (n.421+30482G=)
n.440+30482G=
n.242+37877G=
c.1100C= (p.Thr367=)
c.1514C= (p.Thr505=)
6g.32293291G>TCA363561306TSBP1,TSBP1-AS1c.1376C>A (p.Thr459Asn)
c.1379C>A (p.Thr460Asn)
c.1355C>A (p.Thr452Asn)
c.1382C>A (p.Thr461Asn)
c.1334C>A (p.Thr445Asn)
c.1367C>A (p.Thr456Asn)
c.1436C>A (p.Thr479Asn)
c.1415C>A (p.Thr472Asn)
c.1412C>A (p.Thr471Asn)
c.1394C>A (p.Thr465Asn)
c.1358C>A (p.Thr453Asn)
c.1337C>A (p.Thr446Asn)
c.421+30482G>T (n.421+30482G>T)
n.440+30482G>T
n.242+37877G>T
c.1100C>A (p.Thr367Asn)
c.1514C>A (p.Thr505Asn)
6g.32293292T>ACA363561307TSBP1,TSBP1-AS1c.1375A>T (p.Thr459Ser)
c.1378A>T (p.Thr460Ser)
c.1354A>T (p.Thr452Ser)
c.1381A>T (p.Thr461Ser)
c.1333A>T (p.Thr445Ser)
c.1366A>T (p.Thr456Ser)
c.1435A>T (p.Thr479Ser)
c.1414A>T (p.Thr472Ser)
c.1411A>T (p.Thr471Ser)
c.1393A>T (p.Thr465Ser)
c.1357A>T (p.Thr453Ser)
c.1336A>T (p.Thr446Ser)
c.421+30483T>A (n.421+30483T>A)
n.440+30483T>A
n.242+37878T>A
c.1099A>T (p.Thr367Ser)
c.1513A>T (p.Thr505Ser)
 gnomAD v4
6g.32293292T>CCA363561309TSBP1,TSBP1-AS1c.1375A>G (p.Thr459Ala)
c.1378A>G (p.Thr460Ala)
c.1354A>G (p.Thr452Ala)
c.1381A>G (p.Thr461Ala)
c.1333A>G (p.Thr445Ala)
c.1366A>G (p.Thr456Ala)
c.1435A>G (p.Thr479Ala)
c.1414A>G (p.Thr472Ala)
c.1411A>G (p.Thr471Ala)
c.1393A>G (p.Thr465Ala)
c.1357A>G (p.Thr453Ala)
c.1336A>G (p.Thr446Ala)
c.421+30483T>C (n.421+30483T>C)
n.440+30483T>C
n.242+37878T>C
c.1099A>G (p.Thr367Ala)
c.1513A>G (p.Thr505Ala)
6g.32293292T>GCA363561308TSBP1,TSBP1-AS1c.1375A>C (p.Thr459Pro)
c.1378A>C (p.Thr460Pro)
c.1354A>C (p.Thr452Pro)
c.1381A>C (p.Thr461Pro)
c.1333A>C (p.Thr445Pro)
c.1366A>C (p.Thr456Pro)
c.1435A>C (p.Thr479Pro)
c.1414A>C (p.Thr472Pro)
c.1411A>C (p.Thr471Pro)
c.1393A>C (p.Thr465Pro)
c.1357A>C (p.Thr453Pro)
c.1336A>C (p.Thr446Pro)
c.421+30483T>G (n.421+30483T>G)
n.440+30483T>G
n.242+37878T>G
c.1099A>C (p.Thr367Pro)
c.1513A>C (p.Thr505Pro)
6g.32293293G>ACA449829691TSBP1,TSBP1-AS1c.1374C>T (p.Asn458=)
c.1377C>T (p.Asn459=)
c.1353C>T (p.Asn451=)
c.1380C>T (p.Asn460=)
c.1332C>T (p.Asn444=)
c.1365C>T (p.Asn455=)
c.1434C>T (p.Asn478=)
c.1413C>T (p.Asn471=)
c.1410C>T (p.Asn470=)
c.1392C>T (p.Asn464=)
c.1356C>T (p.Asn452=)
c.1335C>T (p.Asn445=)
c.421+30484G>A (n.421+30484G>A)
n.440+30484G>A
n.242+37879G>A
c.1098C>T (p.Asn366=)
c.1512C>T (p.Asn504=)
6g.32293293G>CCA363561310TSBP1,TSBP1-AS1c.1374C>G (p.Asn458Lys)
c.1377C>G (p.Asn459Lys)
c.1353C>G (p.Asn451Lys)
c.1380C>G (p.Asn460Lys)
c.1332C>G (p.Asn444Lys)
c.1365C>G (p.Asn455Lys)
c.1434C>G (p.Asn478Lys)
c.1413C>G (p.Asn471Lys)
c.1410C>G (p.Asn470Lys)
c.1392C>G (p.Asn464Lys)
c.1356C>G (p.Asn452Lys)
c.1335C>G (p.Asn445Lys)
c.421+30484G>C (n.421+30484G>C)
n.440+30484G>C
n.242+37879G>C
c.1098C>G (p.Asn366Lys)
c.1512C>G (p.Asn504Lys)
6g.32293293G=CA1619500779TSBP1,TSBP1-AS1c.1374C= (p.Asn458=)
c.1377C= (p.Asn459=)
c.1353C= (p.Asn451=)
c.1380C= (p.Asn460=)
c.1332C= (p.Asn444=)
c.1365C= (p.Asn455=)
c.1434C= (p.Asn478=)
c.1413C= (p.Asn471=)
c.1410C= (p.Asn470=)
c.1392C= (p.Asn464=)
c.1356C= (p.Asn452=)
c.1335C= (p.Asn445=)
c.421+30484G= (n.421+30484G=)
n.440+30484G=
n.242+37879G=
c.1098C= (p.Asn366=)
c.1512C= (p.Asn504=)
6g.32293293G>TCA363561311TSBP1,TSBP1-AS1c.1374C>A (p.Asn458Lys)
c.1377C>A (p.Asn459Lys)
c.1353C>A (p.Asn451Lys)
c.1380C>A (p.Asn460Lys)
c.1332C>A (p.Asn444Lys)
c.1365C>A (p.Asn455Lys)
c.1434C>A (p.Asn478Lys)
c.1413C>A (p.Asn471Lys)
c.1410C>A (p.Asn470Lys)
c.1392C>A (p.Asn464Lys)
c.1356C>A (p.Asn452Lys)
c.1335C>A (p.Asn445Lys)
c.421+30484G>T (n.421+30484G>T)
n.440+30484G>T
n.242+37879G>T
c.1098C>A (p.Asn366Lys)
c.1512C>A (p.Asn504Lys)
 dbSNP gnomAD v2 gnomAD v4
6g.32293293_32293296delinsGTTCCA1619500778TSBP1,TSBP1-AS1c.1371_1374delinsGAAC (p.Lys457=)
c.1374_1377delinsGAAC (p.Lys458=)
c.1350_1353delinsGAAC (p.Lys450=)
c.1377_1380delinsGAAC (p.Lys459=)
c.1329_1332delinsGAAC (p.Lys443=)
c.1362_1365delinsGAAC (p.Lys454=)
c.1431_1434delinsGAAC (p.Lys477=)
c.1410_1413delinsGAAC (p.Lys470=)
c.1407_1410delinsGAAC (p.Lys469=)
c.1389_1392delinsGAAC (p.Lys463=)
c.1353_1356delinsGAAC (p.Lys451=)
c.1332_1335delinsGAAC (p.Lys444=)
c.421+30484_421+30487delinsGTTC (n.421+30484_421+30487delinsGTTC)
n.440+30484_440+30487delinsGTTC
n.242+37879_242+37882delinsGTTC
c.1095_1098delinsGAAC (p.Lys365=)
c.1509_1512delinsGAAC (p.Lys503=)
6g.32293294T>ACA363561312TSBP1,TSBP1-AS1c.1373A>T (p.Asn458Ile)
c.1376A>T (p.Asn459Ile)
c.1352A>T (p.Asn451Ile)
c.1379A>T (p.Asn460Ile)
c.1331A>T (p.Asn444Ile)
c.1364A>T (p.Asn455Ile)
c.1433A>T (p.Asn478Ile)
c.1412A>T (p.Asn471Ile)
c.1409A>T (p.Asn470Ile)
c.1391A>T (p.Asn464Ile)
c.1355A>T (p.Asn452Ile)
c.1334A>T (p.Asn445Ile)
c.421+30485T>A (n.421+30485T>A)
n.440+30485T>A
n.242+37880T>A
c.1097A>T (p.Asn366Ile)
c.1511A>T (p.Asn504Ile)
 gnomAD v4
6g.32293294T>CCA363561313TSBP1,TSBP1-AS1c.1373A>G (p.Asn458Ser)
c.1376A>G (p.Asn459Ser)
c.1352A>G (p.Asn451Ser)
c.1379A>G (p.Asn460Ser)
c.1331A>G (p.Asn444Ser)
c.1364A>G (p.Asn455Ser)
c.1433A>G (p.Asn478Ser)
c.1412A>G (p.Asn471Ser)
c.1409A>G (p.Asn470Ser)
c.1391A>G (p.Asn464Ser)
c.1355A>G (p.Asn452Ser)
c.1334A>G (p.Asn445Ser)
c.421+30485T>C (n.421+30485T>C)
n.440+30485T>C
n.242+37880T>C
c.1097A>G (p.Asn366Ser)
c.1511A>G (p.Asn504Ser)
 gnomAD v4
6g.32293294T>GCA363561314TSBP1,TSBP1-AS1c.1373A>C (p.Asn458Thr)
c.1376A>C (p.Asn459Thr)
c.1352A>C (p.Asn451Thr)
c.1379A>C (p.Asn460Thr)
c.1331A>C (p.Asn444Thr)
c.1364A>C (p.Asn455Thr)
c.1433A>C (p.Asn478Thr)
c.1412A>C (p.Asn471Thr)
c.1409A>C (p.Asn470Thr)
c.1391A>C (p.Asn464Thr)
c.1355A>C (p.Asn452Thr)
c.1334A>C (p.Asn445Thr)
c.421+30485T>G (n.421+30485T>G)
n.440+30485T>G
n.242+37880T>G
c.1097A>C (p.Asn366Thr)
c.1511A>C (p.Asn504Thr)
6g.32293296_32293298delCA566696644TSBP1,TSBP1-AS1c.1371_1373del (p.Lys457del)
c.1374_1376del (p.Lys458del)
c.1350_1352del (p.Lys450del)
c.1377_1379del (p.Lys459del)
c.1329_1331del (p.Lys443del)
c.1362_1364del (p.Lys454del)
c.1431_1433del (p.Lys477del)
c.1410_1412del (p.Lys470del)
c.1407_1409del (p.Lys469del)
c.1389_1391del (p.Lys463del)
c.1353_1355del (p.Lys451del)
c.1332_1334del (p.Lys444del)
c.421+30487_421+30489del (n.421+30487_421+30489del)
n.440+30487_440+30489del
n.242+37882_242+37884del
c.1095_1097del (p.Lys365del)
c.1509_1511del (p.Lys503del)
 dbSNP gnomAD v2
6g.32293295T>ACA363561315TSBP1,TSBP1-AS1c.1372A>T (p.Asn458Tyr)
c.1375A>T (p.Asn459Tyr)
c.1351A>T (p.Asn451Tyr)
c.1378A>T (p.Asn460Tyr)
c.1330A>T (p.Asn444Tyr)
c.1363A>T (p.Asn455Tyr)
c.1432A>T (p.Asn478Tyr)
c.1411A>T (p.Asn471Tyr)
c.1408A>T (p.Asn470Tyr)
c.1390A>T (p.Asn464Tyr)
c.1354A>T (p.Asn452Tyr)
c.1333A>T (p.Asn445Tyr)
c.421+30486T>A (n.421+30486T>A)
n.440+30486T>A
n.242+37881T>A
c.1096A>T (p.Asn366Tyr)
c.1510A>T (p.Asn504Tyr)
6g.32293295T>CCA363561316TSBP1,TSBP1-AS1c.1372A>G (p.Asn458Asp)
c.1375A>G (p.Asn459Asp)
c.1351A>G (p.Asn451Asp)
c.1378A>G (p.Asn460Asp)
c.1330A>G (p.Asn444Asp)
c.1363A>G (p.Asn455Asp)
c.1432A>G (p.Asn478Asp)
c.1411A>G (p.Asn471Asp)
c.1408A>G (p.Asn470Asp)
c.1390A>G (p.Asn464Asp)
c.1354A>G (p.Asn452Asp)
c.1333A>G (p.Asn445Asp)
c.421+30486T>C (n.421+30486T>C)
n.440+30486T>C
n.242+37881T>C
c.1096A>G (p.Asn366Asp)
c.1510A>G (p.Asn504Asp)
6g.32293295T>GCA363561317TSBP1,TSBP1-AS1c.1372A>C (p.Asn458His)
c.1375A>C (p.Asn459His)
c.1351A>C (p.Asn451His)
c.1378A>C (p.Asn460His)
c.1330A>C (p.Asn444His)
c.1363A>C (p.Asn455His)
c.1432A>C (p.Asn478His)
c.1411A>C (p.Asn471His)
c.1408A>C (p.Asn470His)
c.1390A>C (p.Asn464His)
c.1354A>C (p.Asn452His)
c.1333A>C (p.Asn445His)
c.421+30486T>G (n.421+30486T>G)
n.440+30486T>G
n.242+37881T>G
c.1096A>C (p.Asn366His)
c.1510A>C (p.Asn504His)
6g.32293296C>ACA363561318TSBP1,TSBP1-AS1c.1371G>T (p.Lys457Asn)
c.1374G>T (p.Lys458Asn)
c.1350G>T (p.Lys450Asn)
c.1377G>T (p.Lys459Asn)
c.1329G>T (p.Lys443Asn)
c.1362G>T (p.Lys454Asn)
c.1431G>T (p.Lys477Asn)
c.1410G>T (p.Lys470Asn)
c.1407G>T (p.Lys469Asn)
c.1389G>T (p.Lys463Asn)
c.1353G>T (p.Lys451Asn)
c.1332G>T (p.Lys444Asn)
c.421+30487C>A (n.421+30487C>A)
n.440+30487C>A
n.242+37882C>A
c.1095G>T (p.Lys365Asn)
c.1509G>T (p.Lys503Asn)
6g.32293296C>GCA363561319TSBP1,TSBP1-AS1c.1371G>C (p.Lys457Asn)
c.1374G>C (p.Lys458Asn)
c.1350G>C (p.Lys450Asn)
c.1377G>C (p.Lys459Asn)
c.1329G>C (p.Lys443Asn)
c.1362G>C (p.Lys454Asn)
c.1431G>C (p.Lys477Asn)
c.1410G>C (p.Lys470Asn)
c.1407G>C (p.Lys469Asn)
c.1389G>C (p.Lys463Asn)
c.1353G>C (p.Lys451Asn)
c.1332G>C (p.Lys444Asn)
c.421+30487C>G (n.421+30487C>G)
n.440+30487C>G
n.242+37882C>G
c.1095G>C (p.Lys365Asn)
c.1509G>C (p.Lys503Asn)
6g.32293296C>TCA449829696TSBP1,TSBP1-AS1c.1371G>A (p.Lys457=)
c.1374G>A (p.Lys458=)
c.1350G>A (p.Lys450=)
c.1377G>A (p.Lys459=)
c.1329G>A (p.Lys443=)
c.1362G>A (p.Lys454=)
c.1431G>A (p.Lys477=)
c.1410G>A (p.Lys470=)
c.1407G>A (p.Lys469=)
c.1389G>A (p.Lys463=)
c.1353G>A (p.Lys451=)
c.1332G>A (p.Lys444=)
c.421+30487C>T (n.421+30487C>T)
n.440+30487C>T
n.242+37882C>T
c.1095G>A (p.Lys365=)
c.1509G>A (p.Lys503=)
6g.32293297T>ACA363561322TSBP1,TSBP1-AS1c.1370A>T (p.Lys457Met)
c.1373A>T (p.Lys458Met)
c.1349A>T (p.Lys450Met)
c.1376A>T (p.Lys459Met)
c.1328A>T (p.Lys443Met)
c.1361A>T (p.Lys454Met)
c.1430A>T (p.Lys477Met)
c.1409A>T (p.Lys470Met)
c.1406A>T (p.Lys469Met)
c.1388A>T (p.Lys463Met)
c.1352A>T (p.Lys451Met)
c.1331A>T (p.Lys444Met)
c.421+30488T>A (n.421+30488T>A)
n.440+30488T>A
n.242+37883T>A
c.1094A>T (p.Lys365Met)
c.1508A>T (p.Lys503Met)
6g.32293297T>CCA363561321TSBP1,TSBP1-AS1c.1370A>G (p.Lys457Arg)
c.1373A>G (p.Lys458Arg)
c.1349A>G (p.Lys450Arg)
c.1376A>G (p.Lys459Arg)
c.1328A>G (p.Lys443Arg)
c.1361A>G (p.Lys454Arg)
c.1430A>G (p.Lys477Arg)
c.1409A>G (p.Lys470Arg)
c.1406A>G (p.Lys469Arg)
c.1388A>G (p.Lys463Arg)
c.1352A>G (p.Lys451Arg)
c.1331A>G (p.Lys444Arg)
c.421+30488T>C (n.421+30488T>C)
n.440+30488T>C
n.242+37883T>C
c.1094A>G (p.Lys365Arg)
c.1508A>G (p.Lys503Arg)
6g.32293297T>GCA363561320TSBP1,TSBP1-AS1c.1370A>C (p.Lys457Thr)
c.1373A>C (p.Lys458Thr)
c.1349A>C (p.Lys450Thr)
c.1376A>C (p.Lys459Thr)
c.1328A>C (p.Lys443Thr)
c.1361A>C (p.Lys454Thr)
c.1430A>C (p.Lys477Thr)
c.1409A>C (p.Lys470Thr)
c.1406A>C (p.Lys469Thr)
c.1388A>C (p.Lys463Thr)
c.1352A>C (p.Lys451Thr)
c.1331A>C (p.Lys444Thr)
c.421+30488T>G (n.421+30488T>G)
n.440+30488T>G
n.242+37883T>G
c.1094A>C (p.Lys365Thr)
c.1508A>C (p.Lys503Thr)
6g.32293298T>ACA363561323TSBP1,TSBP1-AS1c.1369A>T (p.Lys457Ter)
c.1372A>T (p.Lys458Ter)
c.1348A>T (p.Lys450Ter)
c.1375A>T (p.Lys459Ter)
c.1327A>T (p.Lys443Ter)
c.1360A>T (p.Lys454Ter)
c.1429A>T (p.Lys477Ter)
c.1408A>T (p.Lys470Ter)
c.1405A>T (p.Lys469Ter)
c.1387A>T (p.Lys463Ter)
c.1351A>T (p.Lys451Ter)
c.1330A>T (p.Lys444Ter)
c.421+30489T>A (n.421+30489T>A)
n.440+30489T>A
n.242+37884T>A
c.1093A>T (p.Lys365Ter)
c.1507A>T (p.Lys503Ter)
6g.32293298T>CCA136929515TSBP1,TSBP1-AS1c.1369A>G (p.Lys457Glu)
c.1372A>G (p.Lys458Glu)
c.1348A>G (p.Lys450Glu)
c.1375A>G (p.Lys459Glu)
c.1327A>G (p.Lys443Glu)
c.1360A>G (p.Lys454Glu)
c.1429A>G (p.Lys477Glu)
c.1408A>G (p.Lys470Glu)
c.1405A>G (p.Lys469Glu)
c.1387A>G (p.Lys463Glu)
c.1351A>G (p.Lys451Glu)
c.1330A>G (p.Lys444Glu)
c.421+30489T>C (n.421+30489T>C)
n.440+30489T>C
n.242+37884T>C
c.1093A>G (p.Lys365Glu)
c.1507A>G (p.Lys503Glu)
 dbSNP
6g.32293298T>GCA363561324TSBP1,TSBP1-AS1c.1369A>C (p.Lys457Gln)
c.1372A>C (p.Lys458Gln)
c.1348A>C (p.Lys450Gln)
c.1375A>C (p.Lys459Gln)
c.1327A>C (p.Lys443Gln)
c.1360A>C (p.Lys454Gln)
c.1429A>C (p.Lys477Gln)
c.1408A>C (p.Lys470Gln)
c.1405A>C (p.Lys469Gln)
c.1387A>C (p.Lys463Gln)
c.1351A>C (p.Lys451Gln)
c.1330A>C (p.Lys444Gln)
c.421+30489T>G (n.421+30489T>G)
n.440+30489T>G
n.242+37884T>G
c.1093A>C (p.Lys365Gln)
c.1507A>C (p.Lys503Gln)
6g.32293298T=CA1619500780TSBP1,TSBP1-AS1c.1369A= (p.Lys457=)
c.1372A= (p.Lys458=)
c.1348A= (p.Lys450=)
c.1375A= (p.Lys459=)
c.1327A= (p.Lys443=)
c.1360A= (p.Lys454=)
c.1429A= (p.Lys477=)
c.1408A= (p.Lys470=)
c.1405A= (p.Lys469=)
c.1387A= (p.Lys463=)
c.1351A= (p.Lys451=)
c.1330A= (p.Lys444=)
c.421+30489T= (n.421+30489T=)
n.440+30489T=
n.242+37884T=
c.1093A= (p.Lys365=)
c.1507A= (p.Lys503=)
6g.32293299T>ACA449829700TSBP1,TSBP1-AS1c.1368A>T (p.Val456=)
c.1371A>T (p.Val457=)
c.1347A>T (p.Val449=)
c.1374A>T (p.Val458=)
c.1326A>T (p.Val442=)
c.1359A>T (p.Val453=)
c.1428A>T (p.Val476=)
c.1407A>T (p.Val469=)
c.1404A>T (p.Val468=)
c.1386A>T (p.Val462=)
c.1350A>T (p.Val450=)
c.1329A>T (p.Val443=)
c.421+30490T>A (n.421+30490T>A)
n.440+30490T>A
n.242+37885T>A
c.1092A>T (p.Val364=)
c.1506A>T (p.Val502=)
6g.32293299T>CCA449829699TSBP1,TSBP1-AS1c.1368A>G (p.Val456=)
c.1371A>G (p.Val457=)
c.1347A>G (p.Val449=)
c.1374A>G (p.Val458=)
c.1326A>G (p.Val442=)
c.1359A>G (p.Val453=)
c.1428A>G (p.Val476=)
c.1407A>G (p.Val469=)
c.1404A>G (p.Val468=)
c.1386A>G (p.Val462=)
c.1350A>G (p.Val450=)
c.1329A>G (p.Val443=)
c.421+30490T>C (n.421+30490T>C)
n.440+30490T>C
n.242+37885T>C
c.1092A>G (p.Val364=)
c.1506A>G (p.Val502=)
6g.32293299T>GCA449829701TSBP1,TSBP1-AS1c.1368A>C (p.Val456=)
c.1371A>C (p.Val457=)
c.1347A>C (p.Val449=)
c.1374A>C (p.Val458=)
c.1326A>C (p.Val442=)
c.1359A>C (p.Val453=)
c.1428A>C (p.Val476=)
c.1407A>C (p.Val469=)
c.1404A>C (p.Val468=)
c.1386A>C (p.Val462=)
c.1350A>C (p.Val450=)
c.1329A>C (p.Val443=)
c.421+30490T>G (n.421+30490T>G)
n.440+30490T>G
n.242+37885T>G
c.1092A>C (p.Val364=)
c.1506A>C (p.Val502=)
6g.32293300A>CCA363561325TSBP1,TSBP1-AS1c.1367T>G (p.Val456Gly)
c.1370T>G (p.Val457Gly)
c.1346T>G (p.Val449Gly)
c.1373T>G (p.Val458Gly)
c.1325T>G (p.Val442Gly)
c.1358T>G (p.Val453Gly)
c.1427T>G (p.Val476Gly)
c.1406T>G (p.Val469Gly)
c.1403T>G (p.Val468Gly)
c.1385T>G (p.Val462Gly)
c.1349T>G (p.Val450Gly)
c.1328T>G (p.Val443Gly)
c.421+30491A>C (n.421+30491A>C)
n.440+30491A>C
n.242+37886A>C
c.1091T>G (p.Val364Gly)
c.1505T>G (p.Val502Gly)
6g.32293300A>GCA363561326TSBP1,TSBP1-AS1c.1367T>C (p.Val456Ala)
c.1370T>C (p.Val457Ala)
c.1346T>C (p.Val449Ala)
c.1373T>C (p.Val458Ala)
c.1325T>C (p.Val442Ala)
c.1358T>C (p.Val453Ala)
c.1427T>C (p.Val476Ala)
c.1406T>C (p.Val469Ala)
c.1403T>C (p.Val468Ala)
c.1385T>C (p.Val462Ala)
c.1349T>C (p.Val450Ala)
c.1328T>C (p.Val443Ala)
c.421+30491A>G (n.421+30491A>G)
n.440+30491A>G
n.242+37886A>G
c.1091T>C (p.Val364Ala)
c.1505T>C (p.Val502Ala)
6g.32293300A>TCA363561327TSBP1,TSBP1-AS1c.1367T>A (p.Val456Glu)
c.1370T>A (p.Val457Glu)
c.1346T>A (p.Val449Glu)
c.1373T>A (p.Val458Glu)
c.1325T>A (p.Val442Glu)
c.1358T>A (p.Val453Glu)
c.1427T>A (p.Val476Glu)
c.1406T>A (p.Val469Glu)
c.1403T>A (p.Val468Glu)
c.1385T>A (p.Val462Glu)
c.1349T>A (p.Val450Glu)
c.1328T>A (p.Val443Glu)
c.421+30491A>T (n.421+30491A>T)
n.440+30491A>T
n.242+37886A>T
c.1091T>A (p.Val364Glu)
c.1505T>A (p.Val502Glu)
 gnomAD v4
6g.32293301C>ACA363561328TSBP1,TSBP1-AS1c.1366G>T (p.Val456Leu)
c.1369G>T (p.Val457Leu)
c.1345G>T (p.Val449Leu)
c.1372G>T (p.Val458Leu)
c.1324G>T (p.Val442Leu)
c.1357G>T (p.Val453Leu)
c.1426G>T (p.Val476Leu)
c.1405G>T (p.Val469Leu)
c.1402G>T (p.Val468Leu)
c.1384G>T (p.Val462Leu)
c.1348G>T (p.Val450Leu)
c.1327G>T (p.Val443Leu)
c.421+30492C>A (n.421+30492C>A)
n.440+30492C>A
n.242+37887C>A
c.1090G>T (p.Val364Leu)
c.1504G>T (p.Val502Leu)
6g.32293301C=CA1619500781TSBP1,TSBP1-AS1c.1366G= (p.Val456=)
c.1369G= (p.Val457=)
c.1345G= (p.Val449=)
c.1372G= (p.Val458=)
c.1324G= (p.Val442=)
c.1357G= (p.Val453=)
c.1426G= (p.Val476=)
c.1405G= (p.Val469=)
c.1402G= (p.Val468=)
c.1384G= (p.Val462=)
c.1348G= (p.Val450=)
c.1327G= (p.Val443=)
c.421+30492C= (n.421+30492C=)
n.440+30492C=
n.242+37887C=
c.1090G= (p.Val364=)
c.1504G= (p.Val502=)
6g.32293301C>GCA363561329TSBP1,TSBP1-AS1c.1366G>C (p.Val456Leu)
c.1369G>C (p.Val457Leu)
c.1345G>C (p.Val449Leu)
c.1372G>C (p.Val458Leu)
c.1324G>C (p.Val442Leu)
c.1357G>C (p.Val453Leu)
c.1426G>C (p.Val476Leu)
c.1405G>C (p.Val469Leu)
c.1402G>C (p.Val468Leu)
c.1384G>C (p.Val462Leu)
c.1348G>C (p.Val450Leu)
c.1327G>C (p.Val443Leu)
c.421+30492C>G (n.421+30492C>G)
n.440+30492C>G
n.242+37887C>G
c.1090G>C (p.Val364Leu)
c.1504G>C (p.Val502Leu)
6g.32293301C>TCA363561330TSBP1,TSBP1-AS1c.1366G>A (p.Val456Ile)
c.1369G>A (p.Val457Ile)
c.1345G>A (p.Val449Ile)
c.1372G>A (p.Val458Ile)
c.1324G>A (p.Val442Ile)
c.1357G>A (p.Val453Ile)
c.1426G>A (p.Val476Ile)
c.1405G>A (p.Val469Ile)
c.1402G>A (p.Val468Ile)
c.1384G>A (p.Val462Ile)
c.1348G>A (p.Val450Ile)
c.1327G>A (p.Val443Ile)
c.421+30492C>T (n.421+30492C>T)
n.440+30492C>T
n.242+37887C>T
c.1090G>A (p.Val364Ile)
c.1504G>A (p.Val502Ile)
 dbSNP gnomAD v3 gnomAD v4
6g.32293302T>ACA363561331TSBP1,TSBP1-AS1c.1365A>T (p.Gln455His)
c.1368A>T (p.Gln456His)
c.1344A>T (p.Gln448His)
c.1371A>T (p.Gln457His)
c.1323A>T (p.Gln441His)
c.1356A>T (p.Gln452His)
c.1425A>T (p.Gln475His)
c.1404A>T (p.Gln468His)
c.1401A>T (p.Gln467His)
c.1383A>T (p.Gln461His)
c.1347A>T (p.Gln449His)
c.1326A>T (p.Gln442His)
c.421+30493T>A (n.421+30493T>A)
n.440+30493T>A
n.242+37888T>A
c.1089A>T (p.Gln363His)
c.1503A>T (p.Gln501His)
6g.32293302T>CCA449829703TSBP1,TSBP1-AS1c.1365A>G (p.Gln455=)
c.1368A>G (p.Gln456=)
c.1344A>G (p.Gln448=)
c.1371A>G (p.Gln457=)
c.1323A>G (p.Gln441=)
c.1356A>G (p.Gln452=)
c.1425A>G (p.Gln475=)
c.1404A>G (p.Gln468=)
c.1401A>G (p.Gln467=)
c.1383A>G (p.Gln461=)
c.1347A>G (p.Gln449=)
c.1326A>G (p.Gln442=)
c.421+30493T>C (n.421+30493T>C)
n.440+30493T>C
n.242+37888T>C
c.1089A>G (p.Gln363=)
c.1503A>G (p.Gln501=)
6g.32293302T>GCA363561332TSBP1,TSBP1-AS1c.1365A>C (p.Gln455His)
c.1368A>C (p.Gln456His)
c.1344A>C (p.Gln448His)
c.1371A>C (p.Gln457His)
c.1323A>C (p.Gln441His)
c.1356A>C (p.Gln452His)
c.1425A>C (p.Gln475His)
c.1404A>C (p.Gln468His)
c.1401A>C (p.Gln467His)
c.1383A>C (p.Gln461His)
c.1347A>C (p.Gln449His)
c.1326A>C (p.Gln442His)
c.421+30493T>G (n.421+30493T>G)
n.440+30493T>G
n.242+37888T>G
c.1089A>C (p.Gln363His)
c.1503A>C (p.Gln501His)
6g.32293303T>ACA363561333TSBP1,TSBP1-AS1c.1364A>T (p.Gln455Leu)
c.1367A>T (p.Gln456Leu)
c.1343A>T (p.Gln448Leu)
c.1370A>T (p.Gln457Leu)
c.1322A>T (p.Gln441Leu)
c.1355A>T (p.Gln452Leu)
c.1424A>T (p.Gln475Leu)
c.1403A>T (p.Gln468Leu)
c.1400A>T (p.Gln467Leu)
c.1382A>T (p.Gln461Leu)
c.1346A>T (p.Gln449Leu)
c.1325A>T (p.Gln442Leu)
c.421+30494T>A (n.421+30494T>A)
n.440+30494T>A
n.242+37889T>A
c.1088A>T (p.Gln363Leu)
c.1502A>T (p.Gln501Leu)
6g.32293303T>CCA363561334TSBP1,TSBP1-AS1c.1364A>G (p.Gln455Arg)
c.1367A>G (p.Gln456Arg)
c.1343A>G (p.Gln448Arg)
c.1370A>G (p.Gln457Arg)
c.1322A>G (p.Gln441Arg)
c.1355A>G (p.Gln452Arg)
c.1424A>G (p.Gln475Arg)
c.1403A>G (p.Gln468Arg)
c.1400A>G (p.Gln467Arg)
c.1382A>G (p.Gln461Arg)
c.1346A>G (p.Gln449Arg)
c.1325A>G (p.Gln442Arg)
c.421+30494T>C (n.421+30494T>C)
n.440+30494T>C
n.242+37889T>C
c.1088A>G (p.Gln363Arg)
c.1502A>G (p.Gln501Arg)
6g.32293303T>GCA363561335TSBP1,TSBP1-AS1c.1364A>C (p.Gln455Pro)
c.1367A>C (p.Gln456Pro)
c.1343A>C (p.Gln448Pro)
c.1370A>C (p.Gln457Pro)
c.1322A>C (p.Gln441Pro)
c.1355A>C (p.Gln452Pro)
c.1424A>C (p.Gln475Pro)
c.1403A>C (p.Gln468Pro)
c.1400A>C (p.Gln467Pro)
c.1382A>C (p.Gln461Pro)
c.1346A>C (p.Gln449Pro)
c.1325A>C (p.Gln442Pro)
c.421+30494T>G (n.421+30494T>G)
n.440+30494T>G
n.242+37889T>G
c.1088A>C (p.Gln363Pro)
c.1502A>C (p.Gln501Pro)
6g.32293304G>ACA3740485TSBP1,TSBP1-AS1c.1363C>T (p.Gln455Ter)
c.1366C>T (p.Gln456Ter)
c.1342C>T (p.Gln448Ter)
c.1369C>T (p.Gln457Ter)
c.1321C>T (p.Gln441Ter)
c.1354C>T (p.Gln452Ter)
c.1423C>T (p.Gln475Ter)
c.1402C>T (p.Gln468Ter)
c.1399C>T (p.Gln467Ter)
c.1381C>T (p.Gln461Ter)
c.1345C>T (p.Gln449Ter)
c.1324C>T (p.Gln442Ter)
c.421+30495G>A (n.421+30495G>A)
n.440+30495G>A
n.242+37890G>A
c.1087C>T (p.Gln363Ter)
c.1501C>T (p.Gln501Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293304G>CCA363561336TSBP1,TSBP1-AS1c.1363C>G (p.Gln455Glu)
c.1366C>G (p.Gln456Glu)
c.1342C>G (p.Gln448Glu)
c.1369C>G (p.Gln457Glu)
c.1321C>G (p.Gln441Glu)
c.1354C>G (p.Gln452Glu)
c.1423C>G (p.Gln475Glu)
c.1402C>G (p.Gln468Glu)
c.1399C>G (p.Gln467Glu)
c.1381C>G (p.Gln461Glu)
c.1345C>G (p.Gln449Glu)
c.1324C>G (p.Gln442Glu)
c.421+30495G>C (n.421+30495G>C)
n.440+30495G>C
n.242+37890G>C
c.1087C>G (p.Gln363Glu)
c.1501C>G (p.Gln501Glu)
6g.32293304G=CA1619500782TSBP1,TSBP1-AS1c.1363C= (p.Gln455=)
c.1366C= (p.Gln456=)
c.1342C= (p.Gln448=)
c.1369C= (p.Gln457=)
c.1321C= (p.Gln441=)
c.1354C= (p.Gln452=)
c.1423C= (p.Gln475=)
c.1402C= (p.Gln468=)
c.1399C= (p.Gln467=)
c.1381C= (p.Gln461=)
c.1345C= (p.Gln449=)
c.1324C= (p.Gln442=)
c.421+30495G= (n.421+30495G=)
n.440+30495G=
n.242+37890G=
c.1087C= (p.Gln363=)
c.1501C= (p.Gln501=)
6g.32293304G>TCA363561337TSBP1,TSBP1-AS1c.1363C>A (p.Gln455Lys)
c.1366C>A (p.Gln456Lys)
c.1342C>A (p.Gln448Lys)
c.1369C>A (p.Gln457Lys)
c.1321C>A (p.Gln441Lys)
c.1354C>A (p.Gln452Lys)
c.1423C>A (p.Gln475Lys)
c.1402C>A (p.Gln468Lys)
c.1399C>A (p.Gln467Lys)
c.1381C>A (p.Gln461Lys)
c.1345C>A (p.Gln449Lys)
c.1324C>A (p.Gln442Lys)
c.421+30495G>T (n.421+30495G>T)
n.440+30495G>T
n.242+37890G>T
c.1087C>A (p.Gln363Lys)
c.1501C>A (p.Gln501Lys)
6g.32293305G>ACA449829706TSBP1,TSBP1-AS1c.1362C>T (p.Ser454=)
c.1365C>T (p.Ser455=)
c.1341C>T (p.Ser447=)
c.1368C>T (p.Ser456=)
c.1320C>T (p.Ser440=)
c.1353C>T (p.Ser451=)
c.1422C>T (p.Ser474=)
c.1401C>T (p.Ser467=)
c.1398C>T (p.Ser466=)
c.1380C>T (p.Ser460=)
c.1344C>T (p.Ser448=)
c.1323C>T (p.Ser441=)
c.421+30496G>A (n.421+30496G>A)
n.440+30496G>A
n.242+37891G>A
c.1086C>T (p.Ser362=)
c.1500C>T (p.Ser500=)
 gnomAD v4
6g.32293305G>CCA449829707TSBP1,TSBP1-AS1c.1362C>G (p.Ser454=)
c.1365C>G (p.Ser455=)
c.1341C>G (p.Ser447=)
c.1368C>G (p.Ser456=)
c.1320C>G (p.Ser440=)
c.1353C>G (p.Ser451=)
c.1422C>G (p.Ser474=)
c.1401C>G (p.Ser467=)
c.1398C>G (p.Ser466=)
c.1380C>G (p.Ser460=)
c.1344C>G (p.Ser448=)
c.1323C>G (p.Ser441=)
c.421+30496G>C (n.421+30496G>C)
n.440+30496G>C
n.242+37891G>C
c.1086C>G (p.Ser362=)
c.1500C>G (p.Ser500=)
6g.32293305G>TCA449829708TSBP1,TSBP1-AS1c.1362C>A (p.Ser454=)
c.1365C>A (p.Ser455=)
c.1341C>A (p.Ser447=)
c.1368C>A (p.Ser456=)
c.1320C>A (p.Ser440=)
c.1353C>A (p.Ser451=)
c.1422C>A (p.Ser474=)
c.1401C>A (p.Ser467=)
c.1398C>A (p.Ser466=)
c.1380C>A (p.Ser460=)
c.1344C>A (p.Ser448=)
c.1323C>A (p.Ser441=)
c.421+30496G>T (n.421+30496G>T)
n.440+30496G>T
n.242+37891G>T
c.1086C>A (p.Ser362=)
c.1500C>A (p.Ser500=)
6g.32293306G>ACA363561338TSBP1,TSBP1-AS1c.1361C>T (p.Ser454Phe)
c.1364C>T (p.Ser455Phe)
c.1340C>T (p.Ser447Phe)
c.1367C>T (p.Ser456Phe)
c.1319C>T (p.Ser440Phe)
c.1352C>T (p.Ser451Phe)
c.1421C>T (p.Ser474Phe)
c.1400C>T (p.Ser467Phe)
c.1397C>T (p.Ser466Phe)
c.1379C>T (p.Ser460Phe)
c.1343C>T (p.Ser448Phe)
c.1322C>T (p.Ser441Phe)
c.421+30497G>A (n.421+30497G>A)
n.440+30497G>A
n.242+37892G>A
c.1085C>T (p.Ser362Phe)
c.1499C>T (p.Ser500Phe)
6g.32293306G>CCA363561339TSBP1,TSBP1-AS1c.1361C>G (p.Ser454Cys)
c.1364C>G (p.Ser455Cys)
c.1340C>G (p.Ser447Cys)
c.1367C>G (p.Ser456Cys)
c.1319C>G (p.Ser440Cys)
c.1352C>G (p.Ser451Cys)
c.1421C>G (p.Ser474Cys)
c.1400C>G (p.Ser467Cys)
c.1397C>G (p.Ser466Cys)
c.1379C>G (p.Ser460Cys)
c.1343C>G (p.Ser448Cys)
c.1322C>G (p.Ser441Cys)
c.421+30497G>C (n.421+30497G>C)
n.440+30497G>C
n.242+37892G>C
c.1085C>G (p.Ser362Cys)
c.1499C>G (p.Ser500Cys)
6g.32293306G>TCA363561340TSBP1,TSBP1-AS1c.1361C>A (p.Ser454Tyr)
c.1364C>A (p.Ser455Tyr)
c.1340C>A (p.Ser447Tyr)
c.1367C>A (p.Ser456Tyr)
c.1319C>A (p.Ser440Tyr)
c.1352C>A (p.Ser451Tyr)
c.1421C>A (p.Ser474Tyr)
c.1400C>A (p.Ser467Tyr)
c.1397C>A (p.Ser466Tyr)
c.1379C>A (p.Ser460Tyr)
c.1343C>A (p.Ser448Tyr)
c.1322C>A (p.Ser441Tyr)
c.421+30497G>T (n.421+30497G>T)
n.440+30497G>T
n.242+37892G>T
c.1085C>A (p.Ser362Tyr)
c.1499C>A (p.Ser500Tyr)
6g.32293307A>CCA363561341TSBP1,TSBP1-AS1c.1360T>G (p.Ser454Ala)
c.1363T>G (p.Ser455Ala)
c.1339T>G (p.Ser447Ala)
c.1366T>G (p.Ser456Ala)
c.1318T>G (p.Ser440Ala)
c.1351T>G (p.Ser451Ala)
c.1420T>G (p.Ser474Ala)
c.1399T>G (p.Ser467Ala)
c.1396T>G (p.Ser466Ala)
c.1378T>G (p.Ser460Ala)
c.1342T>G (p.Ser448Ala)
c.1321T>G (p.Ser441Ala)
c.421+30498A>C (n.421+30498A>C)
n.440+30498A>C
n.242+37893A>C
c.1084T>G (p.Ser362Ala)
c.1498T>G (p.Ser500Ala)
6g.32293307A>GCA363561342TSBP1,TSBP1-AS1c.1360T>C (p.Ser454Pro)
c.1363T>C (p.Ser455Pro)
c.1339T>C (p.Ser447Pro)
c.1366T>C (p.Ser456Pro)
c.1318T>C (p.Ser440Pro)
c.1351T>C (p.Ser451Pro)
c.1420T>C (p.Ser474Pro)
c.1399T>C (p.Ser467Pro)
c.1396T>C (p.Ser466Pro)
c.1378T>C (p.Ser460Pro)
c.1342T>C (p.Ser448Pro)
c.1321T>C (p.Ser441Pro)
c.421+30498A>G (n.421+30498A>G)
n.440+30498A>G
n.242+37893A>G
c.1084T>C (p.Ser362Pro)
c.1498T>C (p.Ser500Pro)
6g.32293307A>TCA363561343TSBP1,TSBP1-AS1c.1360T>A (p.Ser454Thr)
c.1363T>A (p.Ser455Thr)
c.1339T>A (p.Ser447Thr)
c.1366T>A (p.Ser456Thr)
c.1318T>A (p.Ser440Thr)
c.1351T>A (p.Ser451Thr)
c.1420T>A (p.Ser474Thr)
c.1399T>A (p.Ser467Thr)
c.1396T>A (p.Ser466Thr)
c.1378T>A (p.Ser460Thr)
c.1342T>A (p.Ser448Thr)
c.1321T>A (p.Ser441Thr)
c.421+30498A>T (n.421+30498A>T)
n.440+30498A>T
n.242+37893A>T
c.1084T>A (p.Ser362Thr)
c.1498T>A (p.Ser500Thr)
6g.32293307_32293308insGCA2695206200TSBP1,TSBP1-AS1c.1359_1360insC (p.Ser454LeufsTer7)
c.1362_1363insC (p.Ser455LeufsTer7)
c.1338_1339insC (p.Ser447LeufsTer7)
c.1365_1366insC (p.Ser456LeufsTer7)
c.1317_1318insC (p.Ser440LeufsTer7)
c.1350_1351insC (p.Ser451LeufsTer7)
c.1419_1420insC (p.Ser474LeufsTer7)
c.1398_1399insC (p.Ser467LeufsTer7)
c.1395_1396insC (p.Ser466LeufsTer7)
c.1377_1378insC (p.Ser460LeufsTer7)
c.1341_1342insC (p.Ser448LeufsTer7)
c.1320_1321insC (p.Ser441LeufsTer7)
c.421+30498_421+30499insG (n.421+30498_421+30499insG)
n.440+30498_440+30499insG
n.242+37893_242+37894insG
c.1083_1084insC (p.Ser362LeufsTer7)
c.1497_1498insC (p.Ser500LeufsTer7)
6g.32293308T>ACA363561344TSBP1,TSBP1-AS1c.1359A>T (p.Glu453Asp)
c.1362A>T (p.Glu454Asp)
c.1338A>T (p.Glu446Asp)
c.1365A>T (p.Glu455Asp)
c.1317A>T (p.Glu439Asp)
c.1350A>T (p.Glu450Asp)
c.1419A>T (p.Glu473Asp)
c.1398A>T (p.Glu466Asp)
c.1395A>T (p.Glu465Asp)
c.1377A>T (p.Glu459Asp)
c.1341A>T (p.Glu447Asp)
c.1320A>T (p.Glu440Asp)
c.421+30499T>A (n.421+30499T>A)
n.440+30499T>A
n.242+37894T>A
c.1083A>T (p.Glu361Asp)
c.1497A>T (p.Glu499Asp)
6g.32293308T>CCA449829712TSBP1,TSBP1-AS1c.1359A>G (p.Glu453=)
c.1362A>G (p.Glu454=)
c.1338A>G (p.Glu446=)
c.1365A>G (p.Glu455=)
c.1317A>G (p.Glu439=)
c.1350A>G (p.Glu450=)
c.1419A>G (p.Glu473=)
c.1398A>G (p.Glu466=)
c.1395A>G (p.Glu465=)
c.1377A>G (p.Glu459=)
c.1341A>G (p.Glu447=)
c.1320A>G (p.Glu440=)
c.421+30499T>C (n.421+30499T>C)
n.440+30499T>C
n.242+37894T>C
c.1083A>G (p.Glu361=)
c.1497A>G (p.Glu499=)
 COSMIC
6g.32293308T>GCA363561345TSBP1,TSBP1-AS1c.1359A>C (p.Glu453Asp)
c.1362A>C (p.Glu454Asp)
c.1338A>C (p.Glu446Asp)
c.1365A>C (p.Glu455Asp)
c.1317A>C (p.Glu439Asp)
c.1350A>C (p.Glu450Asp)
c.1419A>C (p.Glu473Asp)
c.1398A>C (p.Glu466Asp)
c.1395A>C (p.Glu465Asp)
c.1377A>C (p.Glu459Asp)
c.1341A>C (p.Glu447Asp)
c.1320A>C (p.Glu440Asp)
c.421+30499T>G (n.421+30499T>G)
n.440+30499T>G
n.242+37894T>G
c.1083A>C (p.Glu361Asp)
c.1497A>C (p.Glu499Asp)
6g.32293309T>ACA363561346TSBP1,TSBP1-AS1c.1358A>T (p.Glu453Val)
c.1361A>T (p.Glu454Val)
c.1337A>T (p.Glu446Val)
c.1364A>T (p.Glu455Val)
c.1316A>T (p.Glu439Val)
c.1349A>T (p.Glu450Val)
c.1418A>T (p.Glu473Val)
c.1397A>T (p.Glu466Val)
c.1394A>T (p.Glu465Val)
c.1376A>T (p.Glu459Val)
c.1340A>T (p.Glu447Val)
c.1319A>T (p.Glu440Val)
c.421+30500T>A (n.421+30500T>A)
n.440+30500T>A
n.242+37895T>A
c.1082A>T (p.Glu361Val)
c.1496A>T (p.Glu499Val)
6g.32293309T>CCA363561347TSBP1,TSBP1-AS1c.1358A>G (p.Glu453Gly)
c.1361A>G (p.Glu454Gly)
c.1337A>G (p.Glu446Gly)
c.1364A>G (p.Glu455Gly)
c.1316A>G (p.Glu439Gly)
c.1349A>G (p.Glu450Gly)
c.1418A>G (p.Glu473Gly)
c.1397A>G (p.Glu466Gly)
c.1394A>G (p.Glu465Gly)
c.1376A>G (p.Glu459Gly)
c.1340A>G (p.Glu447Gly)
c.1319A>G (p.Glu440Gly)
c.421+30500T>C (n.421+30500T>C)
n.440+30500T>C
n.242+37895T>C
c.1082A>G (p.Glu361Gly)
c.1496A>G (p.Glu499Gly)
6g.32293309T>GCA363561348TSBP1,TSBP1-AS1c.1358A>C (p.Glu453Ala)
c.1361A>C (p.Glu454Ala)
c.1337A>C (p.Glu446Ala)
c.1364A>C (p.Glu455Ala)
c.1316A>C (p.Glu439Ala)
c.1349A>C (p.Glu450Ala)
c.1418A>C (p.Glu473Ala)
c.1397A>C (p.Glu466Ala)
c.1394A>C (p.Glu465Ala)
c.1376A>C (p.Glu459Ala)
c.1340A>C (p.Glu447Ala)
c.1319A>C (p.Glu440Ala)
c.421+30500T>G (n.421+30500T>G)
n.440+30500T>G
n.242+37895T>G
c.1082A>C (p.Glu361Ala)
c.1496A>C (p.Glu499Ala)
6g.32293310C>ACA363561350TSBP1,TSBP1-AS1c.1357G>T (p.Glu453Ter)
c.1360G>T (p.Glu454Ter)
c.1336G>T (p.Glu446Ter)
c.1363G>T (p.Glu455Ter)
c.1315G>T (p.Glu439Ter)
c.1348G>T (p.Glu450Ter)
c.1417G>T (p.Glu473Ter)
c.1396G>T (p.Glu466Ter)
c.1393G>T (p.Glu465Ter)
c.1375G>T (p.Glu459Ter)
c.1339G>T (p.Glu447Ter)
c.1318G>T (p.Glu440Ter)
c.421+30501C>A (n.421+30501C>A)
n.440+30501C>A
n.242+37896C>A
c.1081G>T (p.Glu361Ter)
c.1495G>T (p.Glu499Ter)
6g.32293310C>GCA363561351TSBP1,TSBP1-AS1c.1357G>C (p.Glu453Gln)
c.1360G>C (p.Glu454Gln)
c.1336G>C (p.Glu446Gln)
c.1363G>C (p.Glu455Gln)
c.1315G>C (p.Glu439Gln)
c.1348G>C (p.Glu450Gln)
c.1417G>C (p.Glu473Gln)
c.1396G>C (p.Glu466Gln)
c.1393G>C (p.Glu465Gln)
c.1375G>C (p.Glu459Gln)
c.1339G>C (p.Glu447Gln)
c.1318G>C (p.Glu440Gln)
c.421+30501C>G (n.421+30501C>G)
n.440+30501C>G
n.242+37896C>G
c.1081G>C (p.Glu361Gln)
c.1495G>C (p.Glu499Gln)
6g.32293310C>TCA363561349TSBP1,TSBP1-AS1c.1357G>A (p.Glu453Lys)
c.1360G>A (p.Glu454Lys)
c.1336G>A (p.Glu446Lys)
c.1363G>A (p.Glu455Lys)
c.1315G>A (p.Glu439Lys)
c.1348G>A (p.Glu450Lys)
c.1417G>A (p.Glu473Lys)
c.1396G>A (p.Glu466Lys)
c.1393G>A (p.Glu465Lys)
c.1375G>A (p.Glu459Lys)
c.1339G>A (p.Glu447Lys)
c.1318G>A (p.Glu440Lys)
c.421+30501C>T (n.421+30501C>T)
n.440+30501C>T
n.242+37896C>T
c.1081G>A (p.Glu361Lys)
c.1495G>A (p.Glu499Lys)
6g.32293311T>ACA449829714TSBP1,TSBP1-AS1c.1356A>T (p.Pro452=)
c.1359A>T (p.Pro453=)
c.1335A>T (p.Pro445=)
c.1362A>T (p.Pro454=)
c.1314A>T (p.Pro438=)
c.1347A>T (p.Pro449=)
c.1416A>T (p.Pro472=)
c.1395A>T (p.Pro465=)
c.1392A>T (p.Pro464=)
c.1374A>T (p.Pro458=)
c.1338A>T (p.Pro446=)
c.1317A>T (p.Pro439=)
c.421+30502T>A (n.421+30502T>A)
n.440+30502T>A
n.242+37897T>A
c.1080A>T (p.Pro360=)
c.1494A>T (p.Pro498=)
6g.32293311T>CCA449829715TSBP1,TSBP1-AS1c.1356A>G (p.Pro452=)
c.1359A>G (p.Pro453=)
c.1335A>G (p.Pro445=)
c.1362A>G (p.Pro454=)
c.1314A>G (p.Pro438=)
c.1347A>G (p.Pro449=)
c.1416A>G (p.Pro472=)
c.1395A>G (p.Pro465=)
c.1392A>G (p.Pro464=)
c.1374A>G (p.Pro458=)
c.1338A>G (p.Pro446=)
c.1317A>G (p.Pro439=)
c.421+30502T>C (n.421+30502T>C)
n.440+30502T>C
n.242+37897T>C
c.1080A>G (p.Pro360=)
c.1494A>G (p.Pro498=)
6g.32293311T>GCA449829716TSBP1,TSBP1-AS1c.1356A>C (p.Pro452=)
c.1359A>C (p.Pro453=)
c.1335A>C (p.Pro445=)
c.1362A>C (p.Pro454=)
c.1314A>C (p.Pro438=)
c.1347A>C (p.Pro449=)
c.1416A>C (p.Pro472=)
c.1395A>C (p.Pro465=)
c.1392A>C (p.Pro464=)
c.1374A>C (p.Pro458=)
c.1338A>C (p.Pro446=)
c.1317A>C (p.Pro439=)
c.421+30502T>G (n.421+30502T>G)
n.440+30502T>G
n.242+37897T>G
c.1080A>C (p.Pro360=)
c.1494A>C (p.Pro498=)
6g.32293312G>ACA3740486TSBP1,TSBP1-AS1c.1355C>T (p.Pro452Leu)
c.1358C>T (p.Pro453Leu)
c.1334C>T (p.Pro445Leu)
c.1361C>T (p.Pro454Leu)
c.1313C>T (p.Pro438Leu)
c.1346C>T (p.Pro449Leu)
c.1415C>T (p.Pro472Leu)
c.1394C>T (p.Pro465Leu)
c.1391C>T (p.Pro464Leu)
c.1373C>T (p.Pro458Leu)
c.1337C>T (p.Pro446Leu)
c.1316C>T (p.Pro439Leu)
c.421+30503G>A (n.421+30503G>A)
n.440+30503G>A
n.242+37898G>A
c.1079C>T (p.Pro360Leu)
c.1493C>T (p.Pro498Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293312G>CCA363561352TSBP1,TSBP1-AS1c.1355C>G (p.Pro452Arg)
c.1358C>G (p.Pro453Arg)
c.1334C>G (p.Pro445Arg)
c.1361C>G (p.Pro454Arg)
c.1313C>G (p.Pro438Arg)
c.1346C>G (p.Pro449Arg)
c.1415C>G (p.Pro472Arg)
c.1394C>G (p.Pro465Arg)
c.1391C>G (p.Pro464Arg)
c.1373C>G (p.Pro458Arg)
c.1337C>G (p.Pro446Arg)
c.1316C>G (p.Pro439Arg)
c.421+30503G>C (n.421+30503G>C)
n.440+30503G>C
n.242+37898G>C
c.1079C>G (p.Pro360Arg)
c.1493C>G (p.Pro498Arg)
6g.32293312G=CA1619500783TSBP1,TSBP1-AS1c.1355C= (p.Pro452=)
c.1358C= (p.Pro453=)
c.1334C= (p.Pro445=)
c.1361C= (p.Pro454=)
c.1313C= (p.Pro438=)
c.1346C= (p.Pro449=)
c.1415C= (p.Pro472=)
c.1394C= (p.Pro465=)
c.1391C= (p.Pro464=)
c.1373C= (p.Pro458=)
c.1337C= (p.Pro446=)
c.1316C= (p.Pro439=)
c.421+30503G= (n.421+30503G=)
n.440+30503G=
n.242+37898G=
c.1079C= (p.Pro360=)
c.1493C= (p.Pro498=)
6g.32293312G>TCA363561353TSBP1,TSBP1-AS1c.1355C>A (p.Pro452Gln)
c.1358C>A (p.Pro453Gln)
c.1334C>A (p.Pro445Gln)
c.1361C>A (p.Pro454Gln)
c.1313C>A (p.Pro438Gln)
c.1346C>A (p.Pro449Gln)
c.1415C>A (p.Pro472Gln)
c.1394C>A (p.Pro465Gln)
c.1391C>A (p.Pro464Gln)
c.1373C>A (p.Pro458Gln)
c.1337C>A (p.Pro446Gln)
c.1316C>A (p.Pro439Gln)
c.421+30503G>T (n.421+30503G>T)
n.440+30503G>T
n.242+37898G>T
c.1079C>A (p.Pro360Gln)
c.1493C>A (p.Pro498Gln)
6g.32293313G>ACA363561354TSBP1,TSBP1-AS1c.1354C>T (p.Pro452Ser)
c.1357C>T (p.Pro453Ser)
c.1333C>T (p.Pro445Ser)
c.1360C>T (p.Pro454Ser)
c.1312C>T (p.Pro438Ser)
c.1345C>T (p.Pro449Ser)
c.1414C>T (p.Pro472Ser)
c.1393C>T (p.Pro465Ser)
c.1390C>T (p.Pro464Ser)
c.1372C>T (p.Pro458Ser)
c.1336C>T (p.Pro446Ser)
c.1315C>T (p.Pro439Ser)
c.421+30504G>A (n.421+30504G>A)
n.440+30504G>A
n.242+37899G>A
c.1078C>T (p.Pro360Ser)
c.1492C>T (p.Pro498Ser)
 dbSNP
6g.32293313G>CCA363561355TSBP1,TSBP1-AS1c.1354C>G (p.Pro452Ala)
c.1357C>G (p.Pro453Ala)
c.1333C>G (p.Pro445Ala)
c.1360C>G (p.Pro454Ala)
c.1312C>G (p.Pro438Ala)
c.1345C>G (p.Pro449Ala)
c.1414C>G (p.Pro472Ala)
c.1393C>G (p.Pro465Ala)
c.1390C>G (p.Pro464Ala)
c.1372C>G (p.Pro458Ala)
c.1336C>G (p.Pro446Ala)
c.1315C>G (p.Pro439Ala)
c.421+30504G>C (n.421+30504G>C)
n.440+30504G>C
n.242+37899G>C
c.1078C>G (p.Pro360Ala)
c.1492C>G (p.Pro498Ala)
6g.32293313G=CA1619500784TSBP1,TSBP1-AS1c.1354C= (p.Pro452=)
c.1357C= (p.Pro453=)
c.1333C= (p.Pro445=)
c.1360C= (p.Pro454=)
c.1312C= (p.Pro438=)
c.1345C= (p.Pro449=)
c.1414C= (p.Pro472=)
c.1393C= (p.Pro465=)
c.1390C= (p.Pro464=)
c.1372C= (p.Pro458=)
c.1336C= (p.Pro446=)
c.1315C= (p.Pro439=)
c.421+30504G= (n.421+30504G=)
n.440+30504G=
n.242+37899G=
c.1078C= (p.Pro360=)
c.1492C= (p.Pro498=)
6g.32293313G>TCA363561356TSBP1,TSBP1-AS1c.1354C>A (p.Pro452Thr)
c.1357C>A (p.Pro453Thr)
c.1333C>A (p.Pro445Thr)
c.1360C>A (p.Pro454Thr)
c.1312C>A (p.Pro438Thr)
c.1345C>A (p.Pro449Thr)
c.1414C>A (p.Pro472Thr)
c.1393C>A (p.Pro465Thr)
c.1390C>A (p.Pro464Thr)
c.1372C>A (p.Pro458Thr)
c.1336C>A (p.Pro446Thr)
c.1315C>A (p.Pro439Thr)
c.421+30504G>T (n.421+30504G>T)
n.440+30504G>T
n.242+37899G>T
c.1078C>A (p.Pro360Thr)
c.1492C>A (p.Pro498Thr)
 gnomAD v4
6g.32293314T>ACA449829720TSBP1,TSBP1-AS1c.1353A>T (p.Gly451=)
c.1356A>T (p.Gly452=)
c.1332A>T (p.Gly444=)
c.1359A>T (p.Gly453=)
c.1311A>T (p.Gly437=)
c.1344A>T (p.Gly448=)
c.1413A>T (p.Gly471=)
c.1392A>T (p.Gly464=)
c.1389A>T (p.Gly463=)
c.1371A>T (p.Gly457=)
c.1335A>T (p.Gly445=)
c.1314A>T (p.Gly438=)
c.421+30505T>A (n.421+30505T>A)
n.440+30505T>A
n.242+37900T>A
c.1077A>T (p.Gly359=)
c.1491A>T (p.Gly497=)
6g.32293314T>CCA449829721TSBP1,TSBP1-AS1c.1353A>G (p.Gly451=)
c.1356A>G (p.Gly452=)
c.1332A>G (p.Gly444=)
c.1359A>G (p.Gly453=)
c.1311A>G (p.Gly437=)
c.1344A>G (p.Gly448=)
c.1413A>G (p.Gly471=)
c.1392A>G (p.Gly464=)
c.1389A>G (p.Gly463=)
c.1371A>G (p.Gly457=)
c.1335A>G (p.Gly445=)
c.1314A>G (p.Gly438=)
c.421+30505T>C (n.421+30505T>C)
n.440+30505T>C
n.242+37900T>C
c.1077A>G (p.Gly359=)
c.1491A>G (p.Gly497=)
6g.32293314T>GCA449829719TSBP1,TSBP1-AS1c.1353A>C (p.Gly451=)
c.1356A>C (p.Gly452=)
c.1332A>C (p.Gly444=)
c.1359A>C (p.Gly453=)
c.1311A>C (p.Gly437=)
c.1344A>C (p.Gly448=)
c.1413A>C (p.Gly471=)
c.1392A>C (p.Gly464=)
c.1389A>C (p.Gly463=)
c.1371A>C (p.Gly457=)
c.1335A>C (p.Gly445=)
c.1314A>C (p.Gly438=)
c.421+30505T>G (n.421+30505T>G)
n.440+30505T>G
n.242+37900T>G
c.1077A>C (p.Gly359=)
c.1491A>C (p.Gly497=)
6g.32293315C>ACA363561359TSBP1,TSBP1-AS1c.1352G>T (p.Gly451Val)
c.1355G>T (p.Gly452Val)
c.1331G>T (p.Gly444Val)
c.1358G>T (p.Gly453Val)
c.1310G>T (p.Gly437Val)
c.1343G>T (p.Gly448Val)
c.1412G>T (p.Gly471Val)
c.1391G>T (p.Gly464Val)
c.1388G>T (p.Gly463Val)
c.1370G>T (p.Gly457Val)
c.1334G>T (p.Gly445Val)
c.1313G>T (p.Gly438Val)
c.421+30506C>A (n.421+30506C>A)
n.440+30506C>A
n.242+37901C>A
c.1076G>T (p.Gly359Val)
c.1490G>T (p.Gly497Val)
6g.32293315C>GCA363561357TSBP1,TSBP1-AS1c.1352G>C (p.Gly451Ala)
c.1355G>C (p.Gly452Ala)
c.1331G>C (p.Gly444Ala)
c.1358G>C (p.Gly453Ala)
c.1310G>C (p.Gly437Ala)
c.1343G>C (p.Gly448Ala)
c.1412G>C (p.Gly471Ala)
c.1391G>C (p.Gly464Ala)
c.1388G>C (p.Gly463Ala)
c.1370G>C (p.Gly457Ala)
c.1334G>C (p.Gly445Ala)
c.1313G>C (p.Gly438Ala)
c.421+30506C>G (n.421+30506C>G)
n.440+30506C>G
n.242+37901C>G
c.1076G>C (p.Gly359Ala)
c.1490G>C (p.Gly497Ala)
6g.32293315C>TCA363561358TSBP1,TSBP1-AS1c.1352G>A (p.Gly451Glu)
c.1355G>A (p.Gly452Glu)
c.1331G>A (p.Gly444Glu)
c.1358G>A (p.Gly453Glu)
c.1310G>A (p.Gly437Glu)
c.1343G>A (p.Gly448Glu)
c.1412G>A (p.Gly471Glu)
c.1391G>A (p.Gly464Glu)
c.1388G>A (p.Gly463Glu)
c.1370G>A (p.Gly457Glu)
c.1334G>A (p.Gly445Glu)
c.1313G>A (p.Gly438Glu)
c.421+30506C>T (n.421+30506C>T)
n.440+30506C>T
n.242+37901C>T
c.1076G>A (p.Gly359Glu)
c.1490G>A (p.Gly497Glu)
6g.32293316C>ACA363561360TSBP1,TSBP1-AS1c.1351G>T (p.Gly451Ter)
c.1354G>T (p.Gly452Ter)
c.1330G>T (p.Gly444Ter)
c.1357G>T (p.Gly453Ter)
c.1309G>T (p.Gly437Ter)
c.1342G>T (p.Gly448Ter)
c.1411G>T (p.Gly471Ter)
c.1390G>T (p.Gly464Ter)
c.1387G>T (p.Gly463Ter)
c.1369G>T (p.Gly457Ter)
c.1333G>T (p.Gly445Ter)
c.1312G>T (p.Gly438Ter)
c.421+30507C>A (n.421+30507C>A)
n.440+30507C>A
n.242+37902C>A
c.1075G>T (p.Gly359Ter)
c.1489G>T (p.Gly497Ter)
6g.32293316C>GCA363561361TSBP1,TSBP1-AS1c.1351G>C (p.Gly451Arg)
c.1354G>C (p.Gly452Arg)
c.1330G>C (p.Gly444Arg)
c.1357G>C (p.Gly453Arg)
c.1309G>C (p.Gly437Arg)
c.1342G>C (p.Gly448Arg)
c.1411G>C (p.Gly471Arg)
c.1390G>C (p.Gly464Arg)
c.1387G>C (p.Gly463Arg)
c.1369G>C (p.Gly457Arg)
c.1333G>C (p.Gly445Arg)
c.1312G>C (p.Gly438Arg)
c.421+30507C>G (n.421+30507C>G)
n.440+30507C>G
n.242+37902C>G
c.1075G>C (p.Gly359Arg)
c.1489G>C (p.Gly497Arg)
6g.32293316C>TCA363561362TSBP1,TSBP1-AS1c.1351G>A (p.Gly451Arg)
c.1354G>A (p.Gly452Arg)
c.1330G>A (p.Gly444Arg)
c.1357G>A (p.Gly453Arg)
c.1309G>A (p.Gly437Arg)
c.1342G>A (p.Gly448Arg)
c.1411G>A (p.Gly471Arg)
c.1390G>A (p.Gly464Arg)
c.1387G>A (p.Gly463Arg)
c.1369G>A (p.Gly457Arg)
c.1333G>A (p.Gly445Arg)
c.1312G>A (p.Gly438Arg)
c.421+30507C>T (n.421+30507C>T)
n.440+30507C>T
n.242+37902C>T
c.1075G>A (p.Gly359Arg)
c.1489G>A (p.Gly497Arg)
6g.32293317T>ACA363561363TSBP1,TSBP1-AS1c.1350A>T (p.Lys450Asn)
c.1353A>T (p.Lys451Asn)
c.1329A>T (p.Lys443Asn)
c.1356A>T (p.Lys452Asn)
c.1308A>T (p.Lys436Asn)
c.1341A>T (p.Lys447Asn)
c.1410A>T (p.Lys470Asn)
c.1389A>T (p.Lys463Asn)
c.1386A>T (p.Lys462Asn)
c.1368A>T (p.Lys456Asn)
c.1332A>T (p.Lys444Asn)
c.1311A>T (p.Lys437Asn)
c.421+30508T>A (n.421+30508T>A)
n.440+30508T>A
n.242+37903T>A
c.1074A>T (p.Lys358Asn)
c.1488A>T (p.Lys496Asn)
6g.32293317T>CCA449829724TSBP1,TSBP1-AS1c.1350A>G (p.Lys450=)
c.1353A>G (p.Lys451=)
c.1329A>G (p.Lys443=)
c.1356A>G (p.Lys452=)
c.1308A>G (p.Lys436=)
c.1341A>G (p.Lys447=)
c.1410A>G (p.Lys470=)
c.1389A>G (p.Lys463=)
c.1386A>G (p.Lys462=)
c.1368A>G (p.Lys456=)
c.1332A>G (p.Lys444=)
c.1311A>G (p.Lys437=)
c.421+30508T>C (n.421+30508T>C)
n.440+30508T>C
n.242+37903T>C
c.1074A>G (p.Lys358=)
c.1488A>G (p.Lys496=)
6g.32293317T>GCA363561364TSBP1,TSBP1-AS1c.1350A>C (p.Lys450Asn)
c.1353A>C (p.Lys451Asn)
c.1329A>C (p.Lys443Asn)
c.1356A>C (p.Lys452Asn)
c.1308A>C (p.Lys436Asn)
c.1341A>C (p.Lys447Asn)
c.1410A>C (p.Lys470Asn)
c.1389A>C (p.Lys463Asn)
c.1386A>C (p.Lys462Asn)
c.1368A>C (p.Lys456Asn)
c.1332A>C (p.Lys444Asn)
c.1311A>C (p.Lys437Asn)
c.421+30508T>G (n.421+30508T>G)
n.440+30508T>G
n.242+37903T>G
c.1074A>C (p.Lys358Asn)
c.1488A>C (p.Lys496Asn)
6g.32293318T>ACA363561365TSBP1,TSBP1-AS1c.1349A>T (p.Lys450Ile)
c.1352A>T (p.Lys451Ile)
c.1328A>T (p.Lys443Ile)
c.1355A>T (p.Lys452Ile)
c.1307A>T (p.Lys436Ile)
c.1340A>T (p.Lys447Ile)
c.1409A>T (p.Lys470Ile)
c.1388A>T (p.Lys463Ile)
c.1385A>T (p.Lys462Ile)
c.1367A>T (p.Lys456Ile)
c.1331A>T (p.Lys444Ile)
c.1310A>T (p.Lys437Ile)
c.421+30509T>A (n.421+30509T>A)
n.440+30509T>A
n.242+37904T>A
c.1073A>T (p.Lys358Ile)
c.1487A>T (p.Lys496Ile)
6g.32293318T>CCA363561367TSBP1,TSBP1-AS1c.1349A>G (p.Lys450Arg)
c.1352A>G (p.Lys451Arg)
c.1328A>G (p.Lys443Arg)
c.1355A>G (p.Lys452Arg)
c.1307A>G (p.Lys436Arg)
c.1340A>G (p.Lys447Arg)
c.1409A>G (p.Lys470Arg)
c.1388A>G (p.Lys463Arg)
c.1385A>G (p.Lys462Arg)
c.1367A>G (p.Lys456Arg)
c.1331A>G (p.Lys444Arg)
c.1310A>G (p.Lys437Arg)
c.421+30509T>C (n.421+30509T>C)
n.440+30509T>C
n.242+37904T>C
c.1073A>G (p.Lys358Arg)
c.1487A>G (p.Lys496Arg)
6g.32293318T>GCA363561366TSBP1,TSBP1-AS1c.1349A>C (p.Lys450Thr)
c.1352A>C (p.Lys451Thr)
c.1328A>C (p.Lys443Thr)
c.1355A>C (p.Lys452Thr)
c.1307A>C (p.Lys436Thr)
c.1340A>C (p.Lys447Thr)
c.1409A>C (p.Lys470Thr)
c.1388A>C (p.Lys463Thr)
c.1385A>C (p.Lys462Thr)
c.1367A>C (p.Lys456Thr)
c.1331A>C (p.Lys444Thr)
c.1310A>C (p.Lys437Thr)
c.421+30509T>G (n.421+30509T>G)
n.440+30509T>G
n.242+37904T>G
c.1073A>C (p.Lys358Thr)
c.1487A>C (p.Lys496Thr)
6g.32293319T>ACA363561368TSBP1,TSBP1-AS1c.1348A>T (p.Lys450Ter)
c.1351A>T (p.Lys451Ter)
c.1327A>T (p.Lys443Ter)
c.1354A>T (p.Lys452Ter)
c.1306A>T (p.Lys436Ter)
c.1339A>T (p.Lys447Ter)
c.1408A>T (p.Lys470Ter)
c.1387A>T (p.Lys463Ter)
c.1384A>T (p.Lys462Ter)
c.1366A>T (p.Lys456Ter)
c.1330A>T (p.Lys444Ter)
c.1309A>T (p.Lys437Ter)
c.421+30510T>A (n.421+30510T>A)
n.440+30510T>A
n.242+37905T>A
c.1072A>T (p.Lys358Ter)
c.1486A>T (p.Lys496Ter)
6g.32293319T>CCA363561369TSBP1,TSBP1-AS1c.1348A>G (p.Lys450Glu)
c.1351A>G (p.Lys451Glu)
c.1327A>G (p.Lys443Glu)
c.1354A>G (p.Lys452Glu)
c.1306A>G (p.Lys436Glu)
c.1339A>G (p.Lys447Glu)
c.1408A>G (p.Lys470Glu)
c.1387A>G (p.Lys463Glu)
c.1384A>G (p.Lys462Glu)
c.1366A>G (p.Lys456Glu)
c.1330A>G (p.Lys444Glu)
c.1309A>G (p.Lys437Glu)
c.421+30510T>C (n.421+30510T>C)
n.440+30510T>C
n.242+37905T>C
c.1072A>G (p.Lys358Glu)
c.1486A>G (p.Lys496Glu)
6g.32293319T>GCA363561370TSBP1,TSBP1-AS1c.1348A>C (p.Lys450Gln)
c.1351A>C (p.Lys451Gln)
c.1327A>C (p.Lys443Gln)
c.1354A>C (p.Lys452Gln)
c.1306A>C (p.Lys436Gln)
c.1339A>C (p.Lys447Gln)
c.1408A>C (p.Lys470Gln)
c.1387A>C (p.Lys463Gln)
c.1384A>C (p.Lys462Gln)
c.1366A>C (p.Lys456Gln)
c.1330A>C (p.Lys444Gln)
c.1309A>C (p.Lys437Gln)
c.421+30510T>G (n.421+30510T>G)
n.440+30510T>G
n.242+37905T>G
c.1072A>C (p.Lys358Gln)
c.1486A>C (p.Lys496Gln)
6g.32293320C>ACA449829727TSBP1,TSBP1-AS1c.1347G>T (p.Leu449=)
c.1350G>T (p.Leu450=)
c.1326G>T (p.Leu442=)
c.1353G>T (p.Leu451=)
c.1305G>T (p.Leu435=)
c.1338G>T (p.Leu446=)
c.1407G>T (p.Leu469=)
c.1386G>T (p.Leu462=)
c.1383G>T (p.Leu461=)
c.1365G>T (p.Leu455=)
c.1329G>T (p.Leu443=)
c.1308G>T (p.Leu436=)
c.421+30511C>A (n.421+30511C>A)
n.440+30511C>A
n.242+37906C>A
c.1071G>T (p.Leu357=)
c.1485G>T (p.Leu495=)
6g.32293320C>GCA449829728TSBP1,TSBP1-AS1c.1347G>C (p.Leu449=)
c.1350G>C (p.Leu450=)
c.1326G>C (p.Leu442=)
c.1353G>C (p.Leu451=)
c.1305G>C (p.Leu435=)
c.1338G>C (p.Leu446=)
c.1407G>C (p.Leu469=)
c.1386G>C (p.Leu462=)
c.1383G>C (p.Leu461=)
c.1365G>C (p.Leu455=)
c.1329G>C (p.Leu443=)
c.1308G>C (p.Leu436=)
c.421+30511C>G (n.421+30511C>G)
n.440+30511C>G
n.242+37906C>G
c.1071G>C (p.Leu357=)
c.1485G>C (p.Leu495=)
6g.32293320C>TCA449829726TSBP1,TSBP1-AS1c.1347G>A (p.Leu449=)
c.1350G>A (p.Leu450=)
c.1326G>A (p.Leu442=)
c.1353G>A (p.Leu451=)
c.1305G>A (p.Leu435=)
c.1338G>A (p.Leu446=)
c.1407G>A (p.Leu469=)
c.1386G>A (p.Leu462=)
c.1383G>A (p.Leu461=)
c.1365G>A (p.Leu455=)
c.1329G>A (p.Leu443=)
c.1308G>A (p.Leu436=)
c.421+30511C>T (n.421+30511C>T)
n.440+30511C>T
n.242+37906C>T
c.1071G>A (p.Leu357=)
c.1485G>A (p.Leu495=)
 COSMIC
6g.32293321A=CA1619500785TSBP1,TSBP1-AS1c.1346T= (p.Leu449=)
c.1349T= (p.Leu450=)
c.1325T= (p.Leu442=)
c.1352T= (p.Leu451=)
c.1304T= (p.Leu435=)
c.1337T= (p.Leu446=)
c.1406T= (p.Leu469=)
c.1385T= (p.Leu462=)
c.1382T= (p.Leu461=)
c.1364T= (p.Leu455=)
c.1328T= (p.Leu443=)
c.1307T= (p.Leu436=)
c.421+30512A= (n.421+30512A=)
n.440+30512A=
n.242+37907A=
c.1070T= (p.Leu357=)
c.1484T= (p.Leu495=)
6g.32293321A>CCA363561371TSBP1,TSBP1-AS1c.1346T>G (p.Leu449Arg)
c.1349T>G (p.Leu450Arg)
c.1325T>G (p.Leu442Arg)
c.1352T>G (p.Leu451Arg)
c.1304T>G (p.Leu435Arg)
c.1337T>G (p.Leu446Arg)
c.1406T>G (p.Leu469Arg)
c.1385T>G (p.Leu462Arg)
c.1382T>G (p.Leu461Arg)
c.1364T>G (p.Leu455Arg)
c.1328T>G (p.Leu443Arg)
c.1307T>G (p.Leu436Arg)
c.421+30512A>C (n.421+30512A>C)
n.440+30512A>C
n.242+37907A>C
c.1070T>G (p.Leu357Arg)
c.1484T>G (p.Leu495Arg)
 dbSNP
6g.32293321A>GCA363561372TSBP1,TSBP1-AS1c.1346T>C (p.Leu449Pro)
c.1349T>C (p.Leu450Pro)
c.1325T>C (p.Leu442Pro)
c.1352T>C (p.Leu451Pro)
c.1304T>C (p.Leu435Pro)
c.1337T>C (p.Leu446Pro)
c.1406T>C (p.Leu469Pro)
c.1385T>C (p.Leu462Pro)
c.1382T>C (p.Leu461Pro)
c.1364T>C (p.Leu455Pro)
c.1328T>C (p.Leu443Pro)
c.1307T>C (p.Leu436Pro)
c.421+30512A>G (n.421+30512A>G)
n.440+30512A>G
n.242+37907A>G
c.1070T>C (p.Leu357Pro)
c.1484T>C (p.Leu495Pro)
6g.32293321A>TCA363561373TSBP1,TSBP1-AS1c.1346T>A (p.Leu449Gln)
c.1349T>A (p.Leu450Gln)
c.1325T>A (p.Leu442Gln)
c.1352T>A (p.Leu451Gln)
c.1304T>A (p.Leu435Gln)
c.1337T>A (p.Leu446Gln)
c.1406T>A (p.Leu469Gln)
c.1385T>A (p.Leu462Gln)
c.1382T>A (p.Leu461Gln)
c.1364T>A (p.Leu455Gln)
c.1328T>A (p.Leu443Gln)
c.1307T>A (p.Leu436Gln)
c.421+30512A>T (n.421+30512A>T)
n.440+30512A>T
n.242+37907A>T
c.1070T>A (p.Leu357Gln)
c.1484T>A (p.Leu495Gln)
6g.32293322G>ACA3740487TSBP1,TSBP1-AS1c.1345C>T (p.Leu449=)
c.1348C>T (p.Leu450=)
c.1324C>T (p.Leu442=)
c.1351C>T (p.Leu451=)
c.1303C>T (p.Leu435=)
c.1336C>T (p.Leu446=)
c.1405C>T (p.Leu469=)
c.1384C>T (p.Leu462=)
c.1381C>T (p.Leu461=)
c.1363C>T (p.Leu455=)
c.1327C>T (p.Leu443=)
c.1306C>T (p.Leu436=)
c.421+30513G>A (n.421+30513G>A)
n.440+30513G>A
n.242+37908G>A
c.1069C>T (p.Leu357=)
c.1483C>T (p.Leu495=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32293322G>CCA363561374TSBP1,TSBP1-AS1c.1345C>G (p.Leu449Val)
c.1348C>G (p.Leu450Val)
c.1324C>G (p.Leu442Val)
c.1351C>G (p.Leu451Val)
c.1303C>G (p.Leu435Val)
c.1336C>G (p.Leu446Val)
c.1405C>G (p.Leu469Val)
c.1384C>G (p.Leu462Val)
c.1381C>G (p.Leu461Val)
c.1363C>G (p.Leu455Val)
c.1327C>G (p.Leu443Val)
c.1306C>G (p.Leu436Val)
c.421+30513G>C (n.421+30513G>C)
n.440+30513G>C
n.242+37908G>C
c.1069C>G (p.Leu357Val)
c.1483C>G (p.Leu495Val)
 gnomAD v4
6g.32293322G=CA1619500786TSBP1,TSBP1-AS1c.1345C= (p.Leu449=)
c.1348C= (p.Leu450=)
c.1324C= (p.Leu442=)
c.1351C= (p.Leu451=)
c.1303C= (p.Leu435=)
c.1336C= (p.Leu446=)
c.1405C= (p.Leu469=)
c.1384C= (p.Leu462=)
c.1381C= (p.Leu461=)
c.1363C= (p.Leu455=)
c.1327C= (p.Leu443=)
c.1306C= (p.Leu436=)
c.421+30513G= (n.421+30513G=)
n.440+30513G=
n.242+37908G=
c.1069C= (p.Leu357=)
c.1483C= (p.Leu495=)
6g.32293322G>TCA363561375TSBP1,TSBP1-AS1c.1345C>A (p.Leu449Met)
c.1348C>A (p.Leu450Met)
c.1324C>A (p.Leu442Met)
c.1351C>A (p.Leu451Met)
c.1303C>A (p.Leu435Met)
c.1336C>A (p.Leu446Met)
c.1405C>A (p.Leu469Met)
c.1384C>A (p.Leu462Met)
c.1381C>A (p.Leu461Met)
c.1363C>A (p.Leu455Met)
c.1327C>A (p.Leu443Met)
c.1306C>A (p.Leu436Met)
c.421+30513G>T (n.421+30513G>T)
n.440+30513G>T
n.242+37908G>T
c.1069C>A (p.Leu357Met)
c.1483C>A (p.Leu495Met)
6g.32293323T>ACA449829730TSBP1,TSBP1-AS1c.1344A>T (p.Val448=)
c.1347A>T (p.Val449=)
c.1323A>T (p.Val441=)
c.1350A>T (p.Val450=)
c.1302A>T (p.Val434=)
c.1335A>T (p.Val445=)
c.1404A>T (p.Val468=)
c.1383A>T (p.Val461=)
c.1380A>T (p.Val460=)
c.1362A>T (p.Val454=)
c.1326A>T (p.Val442=)
c.1305A>T (p.Val435=)
c.421+30514T>A (n.421+30514T>A)
n.440+30514T>A
n.242+37909T>A
c.1068A>T (p.Val356=)
c.1482A>T (p.Val494=)
6g.32293323T>CCA449829731TSBP1,TSBP1-AS1c.1344A>G (p.Val448=)
c.1347A>G (p.Val449=)
c.1323A>G (p.Val441=)
c.1350A>G (p.Val450=)
c.1302A>G (p.Val434=)
c.1335A>G (p.Val445=)
c.1404A>G (p.Val468=)
c.1383A>G (p.Val461=)
c.1380A>G (p.Val460=)
c.1362A>G (p.Val454=)
c.1326A>G (p.Val442=)
c.1305A>G (p.Val435=)
c.421+30514T>C (n.421+30514T>C)
n.440+30514T>C
n.242+37909T>C
c.1068A>G (p.Val356=)
c.1482A>G (p.Val494=)
6g.32293323T>GCA449829732TSBP1,TSBP1-AS1c.1344A>C (p.Val448=)
c.1347A>C (p.Val449=)
c.1323A>C (p.Val441=)
c.1350A>C (p.Val450=)
c.1302A>C (p.Val434=)
c.1335A>C (p.Val445=)
c.1404A>C (p.Val468=)
c.1383A>C (p.Val461=)
c.1380A>C (p.Val460=)
c.1362A>C (p.Val454=)
c.1326A>C (p.Val442=)
c.1305A>C (p.Val435=)
c.421+30514T>G (n.421+30514T>G)
n.440+30514T>G
n.242+37909T>G
c.1068A>C (p.Val356=)
c.1482A>C (p.Val494=)
6g.32293324A>CCA363561376TSBP1,TSBP1-AS1c.1343T>G (p.Val448Gly)
c.1346T>G (p.Val449Gly)
c.1322T>G (p.Val441Gly)
c.1349T>G (p.Val450Gly)
c.1301T>G (p.Val434Gly)
c.1334T>G (p.Val445Gly)
c.1403T>G (p.Val468Gly)
c.1382T>G (p.Val461Gly)
c.1379T>G (p.Val460Gly)
c.1361T>G (p.Val454Gly)
c.1325T>G (p.Val442Gly)
c.1304T>G (p.Val435Gly)
c.421+30515A>C (n.421+30515A>C)
n.440+30515A>C
n.242+37910A>C
c.1067T>G (p.Val356Gly)
c.1481T>G (p.Val494Gly)
6g.32293324A>GCA363561377TSBP1,TSBP1-AS1c.1343T>C (p.Val448Ala)
c.1346T>C (p.Val449Ala)
c.1322T>C (p.Val441Ala)
c.1349T>C (p.Val450Ala)
c.1301T>C (p.Val434Ala)
c.1334T>C (p.Val445Ala)
c.1403T>C (p.Val468Ala)
c.1382T>C (p.Val461Ala)
c.1379T>C (p.Val460Ala)
c.1361T>C (p.Val454Ala)
c.1325T>C (p.Val442Ala)
c.1304T>C (p.Val435Ala)
c.421+30515A>G (n.421+30515A>G)
n.440+30515A>G
n.242+37910A>G
c.1067T>C (p.Val356Ala)
c.1481T>C (p.Val494Ala)
6g.32293324A>TCA363561378TSBP1,TSBP1-AS1c.1343T>A (p.Val448Glu)
c.1346T>A (p.Val449Glu)
c.1322T>A (p.Val441Glu)
c.1349T>A (p.Val450Glu)
c.1301T>A (p.Val434Glu)
c.1334T>A (p.Val445Glu)
c.1403T>A (p.Val468Glu)
c.1382T>A (p.Val461Glu)
c.1379T>A (p.Val460Glu)
c.1361T>A (p.Val454Glu)
c.1325T>A (p.Val442Glu)
c.1304T>A (p.Val435Glu)
c.421+30515A>T (n.421+30515A>T)
n.440+30515A>T
n.242+37910A>T
c.1067T>A (p.Val356Glu)
c.1481T>A (p.Val494Glu)
6g.32293325C>ACA363561381TSBP1,TSBP1-AS1c.1342G>T (p.Val448Leu)
c.1345G>T (p.Val449Leu)
c.1321G>T (p.Val441Leu)
c.1348G>T (p.Val450Leu)
c.1300G>T (p.Val434Leu)
c.1333G>T (p.Val445Leu)
c.1402G>T (p.Val468Leu)
c.1381G>T (p.Val461Leu)
c.1378G>T (p.Val460Leu)
c.1360G>T (p.Val454Leu)
c.1324G>T (p.Val442Leu)
c.1303G>T (p.Val435Leu)
c.421+30516C>A (n.421+30516C>A)
n.440+30516C>A
n.242+37911C>A
c.1066G>T (p.Val356Leu)
c.1480G>T (p.Val494Leu)
6g.32293325C=CA1619500787TSBP1,TSBP1-AS1c.1342G= (p.Val448=)
c.1345G= (p.Val449=)
c.1321G= (p.Val441=)
c.1348G= (p.Val450=)
c.1300G= (p.Val434=)
c.1333G= (p.Val445=)
c.1402G= (p.Val468=)
c.1381G= (p.Val461=)
c.1378G= (p.Val460=)
c.1360G= (p.Val454=)
c.1324G= (p.Val442=)
c.1303G= (p.Val435=)
c.421+30516C= (n.421+30516C=)
n.440+30516C=
n.242+37911C=
c.1066G= (p.Val356=)
c.1480G= (p.Val494=)
6g.32293325C>GCA363561380TSBP1,TSBP1-AS1c.1342G>C (p.Val448Leu)
c.1345G>C (p.Val449Leu)
c.1321G>C (p.Val441Leu)
c.1348G>C (p.Val450Leu)
c.1300G>C (p.Val434Leu)
c.1333G>C (p.Val445Leu)
c.1402G>C (p.Val468Leu)
c.1381G>C (p.Val461Leu)
c.1378G>C (p.Val460Leu)
c.1360G>C (p.Val454Leu)
c.1324G>C (p.Val442Leu)
c.1303G>C (p.Val435Leu)
c.421+30516C>G (n.421+30516C>G)
n.440+30516C>G
n.242+37911C>G
c.1066G>C (p.Val356Leu)
c.1480G>C (p.Val494Leu)
6g.32293325C>TCA363561379TSBP1,TSBP1-AS1c.1342G>A (p.Val448Ile)
c.1345G>A (p.Val449Ile)
c.1321G>A (p.Val441Ile)
c.1348G>A (p.Val450Ile)
c.1300G>A (p.Val434Ile)
c.1333G>A (p.Val445Ile)
c.1402G>A (p.Val468Ile)
c.1381G>A (p.Val461Ile)
c.1378G>A (p.Val460Ile)
c.1360G>A (p.Val454Ile)
c.1324G>A (p.Val442Ile)
c.1303G>A (p.Val435Ile)
c.421+30516C>T (n.421+30516C>T)
n.440+30516C>T
n.242+37911C>T
c.1066G>A (p.Val356Ile)
c.1480G>A (p.Val494Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.32293326A=CA1619500788TSBP1,TSBP1-AS1c.1341T= (p.Gly447=)
c.1344T= (p.Gly448=)
c.1320T= (p.Gly440=)
c.1347T= (p.Gly449=)
c.1299T= (p.Gly433=)
c.1332T= (p.Gly444=)
c.1401T= (p.Gly467=)
c.1380T= (p.Gly460=)
c.1377T= (p.Gly459=)
c.1359T= (p.Gly453=)
c.1323T= (p.Gly441=)
c.1302T= (p.Gly434=)
c.421+30517A= (n.421+30517A=)
n.440+30517A=
n.242+37912A=
c.1065T= (p.Gly355=)
c.1479T= (p.Gly493=)
6g.32293326A>CCA3740488TSBP1,TSBP1-AS1c.1341T>G (p.Gly447=)
c.1344T>G (p.Gly448=)
c.1320T>G (p.Gly440=)
c.1347T>G (p.Gly449=)
c.1299T>G (p.Gly433=)
c.1332T>G (p.Gly444=)
c.1401T>G (p.Gly467=)
c.1380T>G (p.Gly460=)
c.1377T>G (p.Gly459=)
c.1359T>G (p.Gly453=)
c.1323T>G (p.Gly441=)
c.1302T>G (p.Gly434=)
c.421+30517A>C (n.421+30517A>C)
n.440+30517A>C
n.242+37912A>C
c.1065T>G (p.Gly355=)
c.1479T>G (p.Gly493=)
 dbSNP ExAC gnomAD v2
6g.32293326A>GCA449829321TSBP1,TSBP1-AS1c.1341T>C (p.Gly447=)
c.1344T>C (p.Gly448=)
c.1320T>C (p.Gly440=)
c.1347T>C (p.Gly449=)
c.1299T>C (p.Gly433=)
c.1332T>C (p.Gly444=)
c.1401T>C (p.Gly467=)
c.1380T>C (p.Gly460=)
c.1377T>C (p.Gly459=)
c.1359T>C (p.Gly453=)
c.1323T>C (p.Gly441=)
c.1302T>C (p.Gly434=)
c.421+30517A>G (n.421+30517A>G)
n.440+30517A>G
n.242+37912A>G
c.1065T>C (p.Gly355=)
c.1479T>C (p.Gly493=)
 gnomAD v4
6g.32293326A>TCA449829322TSBP1,TSBP1-AS1c.1341T>A (p.Gly447=)
c.1344T>A (p.Gly448=)
c.1320T>A (p.Gly440=)
c.1347T>A (p.Gly449=)
c.1299T>A (p.Gly433=)
c.1332T>A (p.Gly444=)
c.1401T>A (p.Gly467=)
c.1380T>A (p.Gly460=)
c.1377T>A (p.Gly459=)
c.1359T>A (p.Gly453=)
c.1323T>A (p.Gly441=)
c.1302T>A (p.Gly434=)
c.421+30517A>T (n.421+30517A>T)
n.440+30517A>T
n.242+37912A>T
c.1065T>A (p.Gly355=)
c.1479T>A (p.Gly493=)
6g.32293327C>ACA363561383TSBP1,TSBP1-AS1c.1340G>T (p.Gly447Val)
c.1343G>T (p.Gly448Val)
c.1319G>T (p.Gly440Val)
c.1346G>T (p.Gly449Val)
c.1298G>T (p.Gly433Val)
c.1331G>T (p.Gly444Val)
c.1400G>T (p.Gly467Val)
c.1379G>T (p.Gly460Val)
c.1376G>T (p.Gly459Val)
c.1358G>T (p.Gly453Val)
c.1322G>T (p.Gly441Val)
c.1301G>T (p.Gly434Val)
c.421+30518C>A (n.421+30518C>A)
n.440+30518C>A
n.242+37913C>A
c.1064G>T (p.Gly355Val)
c.1478G>T (p.Gly493Val)
6g.32293327C>GCA363561382TSBP1,TSBP1-AS1c.1340G>C (p.Gly447Ala)
c.1343G>C (p.Gly448Ala)
c.1319G>C (p.Gly440Ala)
c.1346G>C (p.Gly449Ala)
c.1298G>C (p.Gly433Ala)
c.1331G>C (p.Gly444Ala)
c.1400G>C (p.Gly467Ala)
c.1379G>C (p.Gly460Ala)
c.1376G>C (p.Gly459Ala)
c.1358G>C (p.Gly453Ala)
c.1322G>C (p.Gly441Ala)
c.1301G>C (p.Gly434Ala)
c.421+30518C>G (n.421+30518C>G)
n.440+30518C>G
n.242+37913C>G
c.1064G>C (p.Gly355Ala)
c.1478G>C (p.Gly493Ala)
6g.32293327C>TCA363561384TSBP1,TSBP1-AS1c.1340G>A (p.Gly447Asp)
c.1343G>A (p.Gly448Asp)
c.1319G>A (p.Gly440Asp)
c.1346G>A (p.Gly449Asp)
c.1298G>A (p.Gly433Asp)
c.1331G>A (p.Gly444Asp)
c.1400G>A (p.Gly467Asp)
c.1379G>A (p.Gly460Asp)
c.1376G>A (p.Gly459Asp)
c.1358G>A (p.Gly453Asp)
c.1322G>A (p.Gly441Asp)
c.1301G>A (p.Gly434Asp)
c.421+30518C>T (n.421+30518C>T)
n.440+30518C>T
n.242+37913C>T
c.1064G>A (p.Gly355Asp)
c.1478G>A (p.Gly493Asp)
6g.32293328C>ACA363561385TSBP1,TSBP1-AS1c.1339G>T (p.Gly447Cys)
c.1342G>T (p.Gly448Cys)
c.1318G>T (p.Gly440Cys)
c.1345G>T (p.Gly449Cys)
c.1297G>T (p.Gly433Cys)
c.1330G>T (p.Gly444Cys)
c.1399G>T (p.Gly467Cys)
c.1378G>T (p.Gly460Cys)
c.1375G>T (p.Gly459Cys)
c.1357G>T (p.Gly453Cys)
c.1321G>T (p.Gly441Cys)
c.1300G>T (p.Gly434Cys)
c.421+30519C>A (n.421+30519C>A)
n.440+30519C>A
n.242+37914C>A
c.1063G>T (p.Gly355Cys)
c.1477G>T (p.Gly493Cys)
6g.32293328C=CA1619500789TSBP1,TSBP1-AS1c.1339G= (p.Gly447=)
c.1342G= (p.Gly448=)
c.1318G= (p.Gly440=)
c.1345G= (p.Gly449=)
c.1297G= (p.Gly433=)
c.1330G= (p.Gly444=)
c.1399G= (p.Gly467=)
c.1378G= (p.Gly460=)
c.1375G= (p.Gly459=)
c.1357G= (p.Gly453=)
c.1321G= (p.Gly441=)
c.1300G= (p.Gly434=)
c.421+30519C= (n.421+30519C=)
n.440+30519C=
n.242+37914C=
c.1063G= (p.Gly355=)
c.1477G= (p.Gly493=)
6g.32293328C>GCA363561386TSBP1,TSBP1-AS1c.1339G>C (p.Gly447Arg)
c.1342G>C (p.Gly448Arg)
c.1318G>C (p.Gly440Arg)
c.1345G>C (p.Gly449Arg)
c.1297G>C (p.Gly433Arg)
c.1330G>C (p.Gly444Arg)
c.1399G>C (p.Gly467Arg)
c.1378G>C (p.Gly460Arg)
c.1375G>C (p.Gly459Arg)
c.1357G>C (p.Gly453Arg)
c.1321G>C (p.Gly441Arg)
c.1300G>C (p.Gly434Arg)
c.421+30519C>G (n.421+30519C>G)
n.440+30519C>G
n.242+37914C>G
c.1063G>C (p.Gly355Arg)
c.1477G>C (p.Gly493Arg)
6g.32293328C>TCA3740489TSBP1,TSBP1-AS1c.1339G>A (p.Gly447Ser)
c.1342G>A (p.Gly448Ser)
c.1318G>A (p.Gly440Ser)
c.1345G>A (p.Gly449Ser)
c.1297G>A (p.Gly433Ser)
c.1330G>A (p.Gly444Ser)
c.1399G>A (p.Gly467Ser)
c.1378G>A (p.Gly460Ser)
c.1375G>A (p.Gly459Ser)
c.1357G>A (p.Gly453Ser)
c.1321G>A (p.Gly441Ser)
c.1300G>A (p.Gly434Ser)
c.421+30519C>T (n.421+30519C>T)
n.440+30519C>T
n.242+37914C>T
c.1063G>A (p.Gly355Ser)
c.1477G>A (p.Gly493Ser)
 dbSNP ExAC gnomAD v2
6g.32293329T>ACA449829327TSBP1,TSBP1-AS1c.1338A>T (p.Ala446=)
c.1341A>T (p.Ala447=)
c.1317A>T (p.Ala439=)
c.1344A>T (p.Ala448=)
c.1296A>T (p.Ala432=)
c.1329A>T (p.Ala443=)
c.1398A>T (p.Ala466=)
c.1377A>T (p.Ala459=)
c.1374A>T (p.Ala458=)
c.1356A>T (p.Ala452=)
c.1320A>T (p.Ala440=)
c.1299A>T (p.Ala433=)
c.421+30520T>A (n.421+30520T>A)
n.440+30520T>A
n.242+37915T>A
c.1062A>T (p.Ala354=)
c.1476A>T (p.Ala492=)
 gnomAD v4
6g.32293329T>CCA449829328TSBP1,TSBP1-AS1c.1338A>G (p.Ala446=)
c.1341A>G (p.Ala447=)
c.1317A>G (p.Ala439=)
c.1344A>G (p.Ala448=)
c.1296A>G (p.Ala432=)
c.1329A>G (p.Ala443=)
c.1398A>G (p.Ala466=)
c.1377A>G (p.Ala459=)
c.1374A>G (p.Ala458=)
c.1356A>G (p.Ala452=)
c.1320A>G (p.Ala440=)
c.1299A>G (p.Ala433=)
c.421+30520T>C (n.421+30520T>C)
n.440+30520T>C
n.242+37915T>C
c.1062A>G (p.Ala354=)
c.1476A>G (p.Ala492=)
6g.32293329T>GCA449829330TSBP1,TSBP1-AS1c.1338A>C (p.Ala446=)
c.1341A>C (p.Ala447=)
c.1317A>C (p.Ala439=)
c.1344A>C (p.Ala448=)
c.1296A>C (p.Ala432=)
c.1329A>C (p.Ala443=)
c.1398A>C (p.Ala466=)
c.1377A>C (p.Ala459=)
c.1374A>C (p.Ala458=)
c.1356A>C (p.Ala452=)
c.1320A>C (p.Ala440=)
c.1299A>C (p.Ala433=)
c.421+30520T>G (n.421+30520T>G)
n.440+30520T>G
n.242+37915T>G
c.1062A>C (p.Ala354=)
c.1476A>C (p.Ala492=)
6g.32293330G>ACA363561387TSBP1,TSBP1-AS1c.1337C>T (p.Ala446Val)
c.1340C>T (p.Ala447Val)
c.1316C>T (p.Ala439Val)
c.1343C>T (p.Ala448Val)
c.1295C>T (p.Ala432Val)
c.1328C>T (p.Ala443Val)
c.1397C>T (p.Ala466Val)
c.1376C>T (p.Ala459Val)
c.1373C>T (p.Ala458Val)
c.1355C>T (p.Ala452Val)
c.1319C>T (p.Ala440Val)
c.1298C>T (p.Ala433Val)
c.421+30521G>A (n.421+30521G>A)
n.440+30521G>A
n.242+37916G>A
c.1061C>T (p.Ala354Val)
c.1475C>T (p.Ala492Val)
 gnomAD v4 COSMIC
6g.32293330G>CCA136929520TSBP1,TSBP1-AS1c.1337C>G (p.Ala446Gly)
c.1340C>G (p.Ala447Gly)
c.1316C>G (p.Ala439Gly)
c.1343C>G (p.Ala448Gly)
c.1295C>G (p.Ala432Gly)
c.1328C>G (p.Ala443Gly)
c.1397C>G (p.Ala466Gly)
c.1376C>G (p.Ala459Gly)
c.1373C>G (p.Ala458Gly)
c.1355C>G (p.Ala452Gly)
c.1319C>G (p.Ala440Gly)
c.1298C>G (p.Ala433Gly)
c.421+30521G>C (n.421+30521G>C)
n.440+30521G>C
n.242+37916G>C
c.1061C>G (p.Ala354Gly)
c.1475C>G (p.Ala492Gly)
 dbSNP
6g.32293330G=CA1619500790TSBP1,TSBP1-AS1c.1337C= (p.Ala446=)
c.1340C= (p.Ala447=)
c.1316C= (p.Ala439=)
c.1343C= (p.Ala448=)
c.1295C= (p.Ala432=)
c.1328C= (p.Ala443=)
c.1397C= (p.Ala466=)
c.1376C= (p.Ala459=)
c.1373C= (p.Ala458=)
c.1355C= (p.Ala452=)
c.1319C= (p.Ala440=)
c.1298C= (p.Ala433=)
c.421+30521G= (n.421+30521G=)
n.440+30521G=
n.242+37916G=
c.1061C= (p.Ala354=)
c.1475C= (p.Ala492=)
6g.32293330G>TCA363561388TSBP1,TSBP1-AS1c.1337C>A (p.Ala446Glu)
c.1340C>A (p.Ala447Glu)
c.1316C>A (p.Ala439Glu)
c.1343C>A (p.Ala448Glu)
c.1295C>A (p.Ala432Glu)
c.1328C>A (p.Ala443Glu)
c.1397C>A (p.Ala466Glu)
c.1376C>A (p.Ala459Glu)
c.1373C>A (p.Ala458Glu)
c.1355C>A (p.Ala452Glu)
c.1319C>A (p.Ala440Glu)
c.1298C>A (p.Ala433Glu)
c.421+30521G>T (n.421+30521G>T)
n.440+30521G>T
n.242+37916G>T
c.1061C>A (p.Ala354Glu)
c.1475C>A (p.Ala492Glu)
6g.32293331C>ACA363561390TSBP1,TSBP1-AS1c.1336G>T (p.Ala446Ser)
c.1339G>T (p.Ala447Ser)
c.1315G>T (p.Ala439Ser)
c.1342G>T (p.Ala448Ser)
c.1294G>T (p.Ala432Ser)
c.1327G>T (p.Ala443Ser)
c.1396G>T (p.Ala466Ser)
c.1375G>T (p.Ala459Ser)
c.1372G>T (p.Ala458Ser)
c.1354G>T (p.Ala452Ser)
c.1318G>T (p.Ala440Ser)
c.1297G>T (p.Ala433Ser)
c.421+30522C>A (n.421+30522C>A)
n.440+30522C>A
n.242+37917C>A
c.1060G>T (p.Ala354Ser)
c.1474G>T (p.Ala492Ser)
6g.32293331C=CA1619500791TSBP1,TSBP1-AS1c.1336G= (p.Ala446=)
c.1339G= (p.Ala447=)
c.1315G= (p.Ala439=)
c.1342G= (p.Ala448=)
c.1294G= (p.Ala432=)
c.1327G= (p.Ala443=)
c.1396G= (p.Ala466=)
c.1375G= (p.Ala459=)
c.1372G= (p.Ala458=)
c.1354G= (p.Ala452=)
c.1318G= (p.Ala440=)
c.1297G= (p.Ala433=)
c.421+30522C= (n.421+30522C=)
n.440+30522C=
n.242+37917C=
c.1060G= (p.Ala354=)
c.1474G= (p.Ala492=)
6g.32293331C>GCA363561389TSBP1,TSBP1-AS1c.1336G>C (p.Ala446Pro)
c.1339G>C (p.Ala447Pro)
c.1315G>C (p.Ala439Pro)
c.1342G>C (p.Ala448Pro)
c.1294G>C (p.Ala432Pro)
c.1327G>C (p.Ala443Pro)
c.1396G>C (p.Ala466Pro)
c.1375G>C (p.Ala459Pro)
c.1372G>C (p.Ala458Pro)
c.1354G>C (p.Ala452Pro)
c.1318G>C (p.Ala440Pro)
c.1297G>C (p.Ala433Pro)
c.421+30522C>G (n.421+30522C>G)
n.440+30522C>G
n.242+37917C>G
c.1060G>C (p.Ala354Pro)
c.1474G>C (p.Ala492Pro)
 dbSNP
6g.32293331C>TCA136929521TSBP1,TSBP1-AS1c.1336G>A (p.Ala446Thr)
c.1339G>A (p.Ala447Thr)
c.1315G>A (p.Ala439Thr)
c.1342G>A (p.Ala448Thr)
c.1294G>A (p.Ala432Thr)
c.1327G>A (p.Ala443Thr)
c.1396G>A (p.Ala466Thr)
c.1375G>A (p.Ala459Thr)
c.1372G>A (p.Ala458Thr)
c.1354G>A (p.Ala452Thr)
c.1318G>A (p.Ala440Thr)
c.1297G>A (p.Ala433Thr)
c.421+30522C>T (n.421+30522C>T)
n.440+30522C>T
n.242+37917C>T
c.1060G>A (p.Ala354Thr)
c.1474G>A (p.Ala492Thr)
 dbSNP
6g.32293332C>ACA363561391TSBP1,TSBP1-AS1c.1335G>T (p.Glu445Asp)
c.1338G>T (p.Glu446Asp)
c.1314G>T (p.Glu438Asp)
c.1341G>T (p.Glu447Asp)
c.1293G>T (p.Glu431Asp)
c.1326G>T (p.Glu442Asp)
c.1395G>T (p.Glu465Asp)
c.1374G>T (p.Glu458Asp)
c.1371G>T (p.Glu457Asp)
c.1353G>T (p.Glu451Asp)
c.1317G>T (p.Glu439Asp)
c.1296G>T (p.Glu432Asp)
c.421+30523C>A (n.421+30523C>A)
n.440+30523C>A
n.242+37918C>A
c.1059G>T (p.Glu353Asp)
c.1473G>T (p.Glu491Asp)
6g.32293332C>GCA363561392TSBP1,TSBP1-AS1c.1335G>C (p.Glu445Asp)
c.1338G>C (p.Glu446Asp)
c.1314G>C (p.Glu438Asp)
c.1341G>C (p.Glu447Asp)
c.1293G>C (p.Glu431Asp)
c.1326G>C (p.Glu442Asp)
c.1395G>C (p.Glu465Asp)
c.1374G>C (p.Glu458Asp)
c.1371G>C (p.Glu457Asp)
c.1353G>C (p.Glu451Asp)
c.1317G>C (p.Glu439Asp)
c.1296G>C (p.Glu432Asp)
c.421+30523C>G (n.421+30523C>G)
n.440+30523C>G
n.242+37918C>G
c.1059G>C (p.Glu353Asp)
c.1473G>C (p.Glu491Asp)
6g.32293332C>TCA449829336TSBP1,TSBP1-AS1c.1335G>A (p.Glu445=)
c.1338G>A (p.Glu446=)
c.1314G>A (p.Glu438=)
c.1341G>A (p.Glu447=)
c.1293G>A (p.Glu431=)
c.1326G>A (p.Glu442=)
c.1395G>A (p.Glu465=)
c.1374G>A (p.Glu458=)
c.1371G>A (p.Glu457=)
c.1353G>A (p.Glu451=)
c.1317G>A (p.Glu439=)
c.1296G>A (p.Glu432=)
c.421+30523C>T (n.421+30523C>T)
n.440+30523C>T
n.242+37918C>T
c.1059G>A (p.Glu353=)
c.1473G>A (p.Glu491=)
6g.32293333T>ACA363561393TSBP1,TSBP1-AS1c.1334A>T (p.Glu445Val)
c.1337A>T (p.Glu446Val)
c.1313A>T (p.Glu438Val)
c.1340A>T (p.Glu447Val)
c.1292A>T (p.Glu431Val)
c.1325A>T (p.Glu442Val)
c.1394A>T (p.Glu465Val)
c.1373A>T (p.Glu458Val)
c.1370A>T (p.Glu457Val)
c.1352A>T (p.Glu451Val)
c.1316A>T (p.Glu439Val)
c.1295A>T (p.Glu432Val)
c.421+30524T>A (n.421+30524T>A)
n.440+30524T>A
n.242+37919T>A
c.1058A>T (p.Glu353Val)
c.1472A>T (p.Glu491Val)
6g.32293333T>CCA363561394TSBP1,TSBP1-AS1c.1334A>G (p.Glu445Gly)
c.1337A>G (p.Glu446Gly)
c.1313A>G (p.Glu438Gly)
c.1340A>G (p.Glu447Gly)
c.1292A>G (p.Glu431Gly)
c.1325A>G (p.Glu442Gly)
c.1394A>G (p.Glu465Gly)
c.1373A>G (p.Glu458Gly)
c.1370A>G (p.Glu457Gly)
c.1352A>G (p.Glu451Gly)
c.1316A>G (p.Glu439Gly)
c.1295A>G (p.Glu432Gly)
c.421+30524T>C (n.421+30524T>C)
n.440+30524T>C
n.242+37919T>C
c.1058A>G (p.Glu353Gly)
c.1472A>G (p.Glu491Gly)
6g.32293333T>GCA363561395TSBP1,TSBP1-AS1c.1334A>C (p.Glu445Ala)
c.1337A>C (p.Glu446Ala)
c.1313A>C (p.Glu438Ala)
c.1340A>C (p.Glu447Ala)
c.1292A>C (p.Glu431Ala)
c.1325A>C (p.Glu442Ala)
c.1394A>C (p.Glu465Ala)
c.1373A>C (p.Glu458Ala)
c.1370A>C (p.Glu457Ala)
c.1352A>C (p.Glu451Ala)
c.1316A>C (p.Glu439Ala)
c.1295A>C (p.Glu432Ala)
c.421+30524T>G (n.421+30524T>G)
n.440+30524T>G
n.242+37919T>G
c.1058A>C (p.Glu353Ala)
c.1472A>C (p.Glu491Ala)
6g.32293334C>ACA363561396TSBP1,TSBP1-AS1c.1333G>T (p.Glu445Ter)
c.1336G>T (p.Glu446Ter)
c.1312G>T (p.Glu438Ter)
c.1339G>T (p.Glu447Ter)
c.1291G>T (p.Glu431Ter)
c.1324G>T (p.Glu442Ter)
c.1393G>T (p.Glu465Ter)
c.1372G>T (p.Glu458Ter)
c.1369G>T (p.Glu457Ter)
c.1351G>T (p.Glu451Ter)
c.1315G>T (p.Glu439Ter)
c.1294G>T (p.Glu432Ter)
c.421+30525C>A (n.421+30525C>A)
n.440+30525C>A
n.242+37920C>A
c.1057G>T (p.Glu353Ter)
c.1471G>T (p.Glu491Ter)
6g.32293334C>GCA363561398TSBP1,TSBP1-AS1c.1333G>C (p.Glu445Gln)
c.1336G>C (p.Glu446Gln)
c.1312G>C (p.Glu438Gln)
c.1339G>C (p.Glu447Gln)
c.1291G>C (p.Glu431Gln)
c.1324G>C (p.Glu442Gln)
c.1393G>C (p.Glu465Gln)
c.1372G>C (p.Glu458Gln)
c.1369G>C (p.Glu457Gln)
c.1351G>C (p.Glu451Gln)
c.1315G>C (p.Glu439Gln)
c.1294G>C (p.Glu432Gln)
c.421+30525C>G (n.421+30525C>G)
n.440+30525C>G
n.242+37920C>G
c.1057G>C (p.Glu353Gln)
c.1471G>C (p.Glu491Gln)
6g.32293334C>TCA363561397TSBP1,TSBP1-AS1c.1333G>A (p.Glu445Lys)
c.1336G>A (p.Glu446Lys)
c.1312G>A (p.Glu438Lys)
c.1339G>A (p.Glu447Lys)
c.1291G>A (p.Glu431Lys)
c.1324G>A (p.Glu442Lys)
c.1393G>A (p.Glu465Lys)
c.1372G>A (p.Glu458Lys)
c.1369G>A (p.Glu457Lys)
c.1351G>A (p.Glu451Lys)
c.1315G>A (p.Glu439Lys)
c.1294G>A (p.Glu432Lys)
c.421+30525C>T (n.421+30525C>T)
n.440+30525C>T
n.242+37920C>T
c.1057G>A (p.Glu353Lys)
c.1471G>A (p.Glu491Lys)
 gnomAD v4
6g.32293335A>CCA363561399TSBP1,TSBP1-AS1c.1332T>G (p.Ser444Arg)
c.1335T>G (p.Ser445Arg)
c.1311T>G (p.Ser437Arg)
c.1338T>G (p.Ser446Arg)
c.1290T>G (p.Ser430Arg)
c.1323T>G (p.Ser441Arg)
c.1392T>G (p.Ser464Arg)
c.1371T>G (p.Ser457Arg)
c.1368T>G (p.Ser456Arg)
c.1350T>G (p.Ser450Arg)
c.1314T>G (p.Ser438Arg)
c.1293T>G (p.Ser431Arg)
c.421+30526A>C (n.421+30526A>C)
n.440+30526A>C
n.242+37921A>C
c.1056T>G (p.Ser352Arg)
c.1470T>G (p.Ser490Arg)
6g.32293335A>GCA449829342TSBP1,TSBP1-AS1c.1332T>C (p.Ser444=)
c.1335T>C (p.Ser445=)
c.1311T>C (p.Ser437=)
c.1338T>C (p.Ser446=)
c.1290T>C (p.Ser430=)
c.1323T>C (p.Ser441=)
c.1392T>C (p.Ser464=)
c.1371T>C (p.Ser457=)
c.1368T>C (p.Ser456=)
c.1350T>C (p.Ser450=)
c.1314T>C (p.Ser438=)
c.1293T>C (p.Ser431=)
c.421+30526A>G (n.421+30526A>G)
n.440+30526A>G
n.242+37921A>G
c.1056T>C (p.Ser352=)
c.1470T>C (p.Ser490=)
6g.32293335A>TCA363561400TSBP1,TSBP1-AS1c.1332T>A (p.Ser444Arg)
c.1335T>A (p.Ser445Arg)
c.1311T>A (p.Ser437Arg)
c.1338T>A (p.Ser446Arg)
c.1290T>A (p.Ser430Arg)
c.1323T>A (p.Ser441Arg)
c.1392T>A (p.Ser464Arg)
c.1371T>A (p.Ser457Arg)
c.1368T>A (p.Ser456Arg)
c.1350T>A (p.Ser450Arg)
c.1314T>A (p.Ser438Arg)
c.1293T>A (p.Ser431Arg)
c.421+30526A>T (n.421+30526A>T)
n.440+30526A>T
n.242+37921A>T
c.1056T>A (p.Ser352Arg)
c.1470T>A (p.Ser490Arg)
6g.32293336C>ACA363561401TSBP1,TSBP1-AS1c.1331G>T (p.Ser444Ile)
c.1334G>T (p.Ser445Ile)
c.1310G>T (p.Ser437Ile)
c.1337G>T (p.Ser446Ile)
c.1289G>T (p.Ser430Ile)
c.1322G>T (p.Ser441Ile)
c.1391G>T (p.Ser464Ile)
c.1370G>T (p.Ser457Ile)
c.1367G>T (p.Ser456Ile)
c.1349G>T (p.Ser450Ile)
c.1313G>T (p.Ser438Ile)
c.1292G>T (p.Ser431Ile)
c.421+30527C>A (n.421+30527C>A)
n.440+30527C>A
n.242+37922C>A
c.1055G>T (p.Ser352Ile)
c.1469G>T (p.Ser490Ile)
6g.32293336C=CA1619500793TSBP1,TSBP1-AS1c.1331G= (p.Ser444=)
c.1334G= (p.Ser445=)
c.1310G= (p.Ser437=)
c.1337G= (p.Ser446=)
c.1289G= (p.Ser430=)
c.1322G= (p.Ser441=)
c.1391G= (p.Ser464=)
c.1370G= (p.Ser457=)
c.1367G= (p.Ser456=)
c.1349G= (p.Ser450=)
c.1313G= (p.Ser438=)
c.1292G= (p.Ser431=)
c.421+30527C= (n.421+30527C=)
n.440+30527C=
n.242+37922C=
c.1055G= (p.Ser352=)
c.1469G= (p.Ser490=)
6g.32293336C>GCA363561402TSBP1,TSBP1-AS1c.1331G>C (p.Ser444Thr)
c.1334G>C (p.Ser445Thr)
c.1310G>C (p.Ser437Thr)
c.1337G>C (p.Ser446Thr)
c.1289G>C (p.Ser430Thr)
c.1322G>C (p.Ser441Thr)
c.1391G>C (p.Ser464Thr)
c.1370G>C (p.Ser457Thr)
c.1367G>C (p.Ser456Thr)
c.1349G>C (p.Ser450Thr)
c.1313G>C (p.Ser438Thr)
c.1292G>C (p.Ser431Thr)
c.421+30527C>G (n.421+30527C>G)
n.440+30527C>G
n.242+37922C>G
c.1055G>C (p.Ser352Thr)
c.1469G>C (p.Ser490Thr)
6g.32293336C>TCA363561403TSBP1,TSBP1-AS1c.1331G>A (p.Ser444Asn)
c.1334G>A (p.Ser445Asn)
c.1310G>A (p.Ser437Asn)
c.1337G>A (p.Ser446Asn)
c.1289G>A (p.Ser430Asn)
c.1322G>A (p.Ser441Asn)
c.1391G>A (p.Ser464Asn)
c.1370G>A (p.Ser457Asn)
c.1367G>A (p.Ser456Asn)
c.1349G>A (p.Ser450Asn)
c.1313G>A (p.Ser438Asn)
c.1292G>A (p.Ser431Asn)
c.421+30527C>T (n.421+30527C>T)
n.440+30527C>T
n.242+37922C>T
c.1055G>A (p.Ser352Asn)
c.1469G>A (p.Ser490Asn)
 dbSNP gnomAD v4
6g.32293336_32293339delinsCTCTCA1619500792TSBP1,TSBP1-AS1c.1328_1331delinsAGAG (p.Lys443=)
c.1331_1334delinsAGAG (p.Lys444=)
c.1307_1310delinsAGAG (p.Lys436=)
c.1334_1337delinsAGAG (p.Lys445=)
c.1286_1289delinsAGAG (p.Lys429=)
c.1319_1322delinsAGAG (p.Lys440=)
c.1388_1391delinsAGAG (p.Lys463=)
c.1367_1370delinsAGAG (p.Lys456=)
c.1364_1367delinsAGAG (p.Lys455=)
c.1346_1349delinsAGAG (p.Lys449=)
c.1310_1313delinsAGAG (p.Lys437=)
c.1289_1292delinsAGAG (p.Lys430=)
c.421+30527_421+30530delinsCTCT (n.421+30527_421+30530delinsCTCT)
n.440+30527_440+30530delinsCTCT
n.242+37922_242+37925delinsCTCT
c.1052_1055delinsAGAG (p.Lys351=)
c.1466_1469delinsAGAG (p.Lys489=)
6g.32293337T>ACA363561404TSBP1,TSBP1-AS1c.1330A>T (p.Ser444Cys)
c.1333A>T (p.Ser445Cys)
c.1309A>T (p.Ser437Cys)
c.1336A>T (p.Ser446Cys)
c.1288A>T (p.Ser430Cys)
c.1321A>T (p.Ser441Cys)
c.1390A>T (p.Ser464Cys)
c.1369A>T (p.Ser457Cys)
c.1366A>T (p.Ser456Cys)
c.1348A>T (p.Ser450Cys)
c.1312A>T (p.Ser438Cys)
c.1291A>T (p.Ser431Cys)
c.421+30528T>A (n.421+30528T>A)
n.440+30528T>A
n.242+37923T>A
c.1054A>T (p.Ser352Cys)
c.1468A>T (p.Ser490Cys)
6g.32293337T>CCA363561405TSBP1,TSBP1-AS1c.1330A>G (p.Ser444Gly)
c.1333A>G (p.Ser445Gly)
c.1309A>G (p.Ser437Gly)
c.1336A>G (p.Ser446Gly)
c.1288A>G (p.Ser430Gly)
c.1321A>G (p.Ser441Gly)
c.1390A>G (p.Ser464Gly)
c.1369A>G (p.Ser457Gly)
c.1366A>G (p.Ser456Gly)
c.1348A>G (p.Ser450Gly)
c.1312A>G (p.Ser438Gly)
c.1291A>G (p.Ser431Gly)
c.421+30528T>C (n.421+30528T>C)
n.440+30528T>C
n.242+37923T>C
c.1054A>G (p.Ser352Gly)
c.1468A>G (p.Ser490Gly)
6g.32293337T>GCA363561406TSBP1,TSBP1-AS1c.1330A>C (p.Ser444Arg)
c.1333A>C (p.Ser445Arg)
c.1309A>C (p.Ser437Arg)
c.1336A>C (p.Ser446Arg)
c.1288A>C (p.Ser430Arg)
c.1321A>C (p.Ser441Arg)
c.1390A>C (p.Ser464Arg)
c.1369A>C (p.Ser457Arg)
c.1366A>C (p.Ser456Arg)
c.1348A>C (p.Ser450Arg)
c.1312A>C (p.Ser438Arg)
c.1291A>C (p.Ser431Arg)
c.421+30528T>G (n.421+30528T>G)
n.440+30528T>G
n.242+37923T>G
c.1054A>C (p.Ser352Arg)
c.1468A>C (p.Ser490Arg)
6g.32293341_32293343delCA3740490TSBP1,TSBP1-AS1c.1328_1330del (p.Lys443del)
c.1331_1333del (p.Lys444del)
c.1307_1309del (p.Lys436del)
c.1334_1336del (p.Lys445del)
c.1286_1288del (p.Lys429del)
c.1319_1321del (p.Lys440del)
c.1388_1390del (p.Lys463del)
c.1367_1369del (p.Lys456del)
c.1364_1366del (p.Lys455del)
c.1346_1348del (p.Lys449del)
c.1310_1312del (p.Lys437del)
c.1289_1291del (p.Lys430del)
c.421+30532_421+30534del (n.421+30532_421+30534del)
n.440+30532_440+30534del
n.242+37927_242+37929del
c.1052_1054del (p.Lys351del)
c.1466_1468del (p.Lys489del)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32293338C>ACA363561407TSBP1,TSBP1-AS1c.1329G>T (p.Lys443Asn)
c.1332G>T (p.Lys444Asn)
c.1308G>T (p.Lys436Asn)
c.1335G>T (p.Lys445Asn)
c.1287G>T (p.Lys429Asn)
c.1320G>T (p.Lys440Asn)
c.1389G>T (p.Lys463Asn)
c.1368G>T (p.Lys456Asn)
c.1365G>T (p.Lys455Asn)
c.1347G>T (p.Lys449Asn)
c.1311G>T (p.Lys437Asn)
c.1290G>T (p.Lys430Asn)
c.421+30529C>A (n.421+30529C>A)
n.440+30529C>A
n.242+37924C>A
c.1053G>T (p.Lys351Asn)
c.1467G>T (p.Lys489Asn)
6g.32293338C>GCA363561408TSBP1,TSBP1-AS1c.1329G>C (p.Lys443Asn)
c.1332G>C (p.Lys444Asn)
c.1308G>C (p.Lys436Asn)
c.1335G>C (p.Lys445Asn)
c.1287G>C (p.Lys429Asn)
c.1320G>C (p.Lys440Asn)
c.1389G>C (p.Lys463Asn)
c.1368G>C (p.Lys456Asn)
c.1365G>C (p.Lys455Asn)
c.1347G>C (p.Lys449Asn)
c.1311G>C (p.Lys437Asn)
c.1290G>C (p.Lys430Asn)
c.421+30529C>G (n.421+30529C>G)
n.440+30529C>G
n.242+37924C>G
c.1053G>C (p.Lys351Asn)
c.1467G>C (p.Lys489Asn)
6g.32293338C>TCA449829345TSBP1,TSBP1-AS1c.1329G>A (p.Lys443=)
c.1332G>A (p.Lys444=)
c.1308G>A (p.Lys436=)
c.1335G>A (p.Lys445=)
c.1287G>A (p.Lys429=)
c.1320G>A (p.Lys440=)
c.1389G>A (p.Lys463=)
c.1368G>A (p.Lys456=)
c.1365G>A (p.Lys455=)
c.1347G>A (p.Lys449=)
c.1311G>A (p.Lys437=)
c.1290G>A (p.Lys430=)
c.421+30529C>T (n.421+30529C>T)
n.440+30529C>T
n.242+37924C>T
c.1053G>A (p.Lys351=)
c.1467G>A (p.Lys489=)
6g.32293338_32293343delinsCTTCTTCA1619500794TSBP1,TSBP1-AS1c.1324_1329delinsAAGAAG (p.Lys442=)
c.1327_1332delinsAAGAAG (p.Lys443=)
c.1303_1308delinsAAGAAG (p.Lys435=)
c.1330_1335delinsAAGAAG (p.Lys444=)
c.1282_1287delinsAAGAAG (p.Lys428=)
c.1315_1320delinsAAGAAG (p.Lys439=)
c.1384_1389delinsAAGAAG (p.Lys462=)
c.1363_1368delinsAAGAAG (p.Lys455=)
c.1360_1365delinsAAGAAG (p.Lys454=)
c.1342_1347delinsAAGAAG (p.Lys448=)
c.1306_1311delinsAAGAAG (p.Lys436=)
c.1285_1290delinsAAGAAG (p.Lys429=)
c.421+30529_421+30534delinsCTTCTT (n.421+30529_421+30534delinsCTTCTT)
n.440+30529_440+30534delinsCTTCTT
n.242+37924_242+37929delinsCTTCTT
c.1048_1053delinsAAGAAG (p.Lys350=)
c.1462_1467delinsAAGAAG (p.Lys488=)
6g.32293339T>ACA363561409TSBP1,TSBP1-AS1c.1328A>T (p.Lys443Met)
c.1331A>T (p.Lys444Met)
c.1307A>T (p.Lys436Met)
c.1334A>T (p.Lys445Met)
c.1286A>T (p.Lys429Met)
c.1319A>T (p.Lys440Met)
c.1388A>T (p.Lys463Met)
c.1367A>T (p.Lys456Met)
c.1364A>T (p.Lys455Met)
c.1346A>T (p.Lys449Met)
c.1310A>T (p.Lys437Met)
c.1289A>T (p.Lys430Met)
c.421+30530T>A (n.421+30530T>A)
n.440+30530T>A
n.242+37925T>A
c.1052A>T (p.Lys351Met)
c.1466A>T (p.Lys489Met)
6g.32293339T>CCA3740491TSBP1,TSBP1-AS1c.1328A>G (p.Lys443Arg)
c.1331A>G (p.Lys444Arg)
c.1307A>G (p.Lys436Arg)
c.1334A>G (p.Lys445Arg)
c.1286A>G (p.Lys429Arg)
c.1319A>G (p.Lys440Arg)
c.1388A>G (p.Lys463Arg)
c.1367A>G (p.Lys456Arg)
c.1364A>G (p.Lys455Arg)
c.1346A>G (p.Lys449Arg)
c.1310A>G (p.Lys437Arg)
c.1289A>G (p.Lys430Arg)
c.421+30530T>C (n.421+30530T>C)
n.440+30530T>C
n.242+37925T>C
c.1052A>G (p.Lys351Arg)
c.1466A>G (p.Lys489Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293339T>GCA363561410TSBP1,TSBP1-AS1c.1328A>C (p.Lys443Thr)
c.1331A>C (p.Lys444Thr)
c.1307A>C (p.Lys436Thr)
c.1334A>C (p.Lys445Thr)
c.1286A>C (p.Lys429Thr)
c.1319A>C (p.Lys440Thr)
c.1388A>C (p.Lys463Thr)
c.1367A>C (p.Lys456Thr)
c.1364A>C (p.Lys455Thr)
c.1346A>C (p.Lys449Thr)
c.1310A>C (p.Lys437Thr)
c.1289A>C (p.Lys430Thr)
c.421+30530T>G (n.421+30530T>G)
n.440+30530T>G
n.242+37925T>G
c.1052A>C (p.Lys351Thr)
c.1466A>C (p.Lys489Thr)
 COSMIC
6g.32293339T=CA1619500796TSBP1,TSBP1-AS1c.1328A= (p.Lys443=)
c.1331A= (p.Lys444=)
c.1307A= (p.Lys436=)
c.1334A= (p.Lys445=)
c.1286A= (p.Lys429=)
c.1319A= (p.Lys440=)
c.1388A= (p.Lys463=)
c.1367A= (p.Lys456=)
c.1364A= (p.Lys455=)
c.1346A= (p.Lys449=)
c.1310A= (p.Lys437=)
c.1289A= (p.Lys430=)
c.421+30530T= (n.421+30530T=)
n.440+30530T=
n.242+37925T=
c.1052A= (p.Lys351=)
c.1466A= (p.Lys489=)
6g.32293344_32293348delCA1619500795TSBP1,TSBP1-AS1c.1324_1328del (p.Lys442GlufsTer2)
c.1327_1331del (p.Lys443GlufsTer2)
c.1303_1307del (p.Lys435GlufsTer2)
c.1330_1334del (p.Lys444GlufsTer2)
c.1282_1286del (p.Lys428GlufsTer2)
c.1315_1319del (p.Lys439GlufsTer2)
c.1384_1388del (p.Lys462GlufsTer2)
c.1363_1367del (p.Lys455GlufsTer2)
c.1360_1364del (p.Lys454GlufsTer2)
c.1342_1346del (p.Lys448GlufsTer2)
c.1306_1310del (p.Lys436GlufsTer2)
c.1285_1289del (p.Lys429GlufsTer2)
c.421+30535_421+30539del (n.421+30535_421+30539del)
n.440+30535_440+30539del
n.242+37930_242+37934del
c.1048_1052del (p.Lys350GlufsTer2)
c.1462_1466del (p.Lys488GlufsTer2)
 dbSNP
6g.32293340T>ACA363561411TSBP1,TSBP1-AS1c.1327A>T (p.Lys443Ter)
c.1330A>T (p.Lys444Ter)
c.1306A>T (p.Lys436Ter)
c.1333A>T (p.Lys445Ter)
c.1285A>T (p.Lys429Ter)
c.1318A>T (p.Lys440Ter)
c.1387A>T (p.Lys463Ter)
c.1366A>T (p.Lys456Ter)
c.1363A>T (p.Lys455Ter)
c.1345A>T (p.Lys449Ter)
c.1309A>T (p.Lys437Ter)
c.1288A>T (p.Lys430Ter)
c.421+30531T>A (n.421+30531T>A)
n.440+30531T>A
n.242+37926T>A
c.1051A>T (p.Lys351Ter)
c.1465A>T (p.Lys489Ter)
 dbSNP gnomAD v3 gnomAD v4
6g.32293340T>CCA363561412TSBP1,TSBP1-AS1c.1327A>G (p.Lys443Glu)
c.1330A>G (p.Lys444Glu)
c.1306A>G (p.Lys436Glu)
c.1333A>G (p.Lys445Glu)
c.1285A>G (p.Lys429Glu)
c.1318A>G (p.Lys440Glu)
c.1387A>G (p.Lys463Glu)
c.1366A>G (p.Lys456Glu)
c.1363A>G (p.Lys455Glu)
c.1345A>G (p.Lys449Glu)
c.1309A>G (p.Lys437Glu)
c.1288A>G (p.Lys430Glu)
c.421+30531T>C (n.421+30531T>C)
n.440+30531T>C
n.242+37926T>C
c.1051A>G (p.Lys351Glu)
c.1465A>G (p.Lys489Glu)
6g.32293340T>GCA363561413TSBP1,TSBP1-AS1c.1327A>C (p.Lys443Gln)
c.1330A>C (p.Lys444Gln)
c.1306A>C (p.Lys436Gln)
c.1333A>C (p.Lys445Gln)
c.1285A>C (p.Lys429Gln)
c.1318A>C (p.Lys440Gln)
c.1387A>C (p.Lys463Gln)
c.1366A>C (p.Lys456Gln)
c.1363A>C (p.Lys455Gln)
c.1345A>C (p.Lys449Gln)
c.1309A>C (p.Lys437Gln)
c.1288A>C (p.Lys430Gln)
c.421+30531T>G (n.421+30531T>G)
n.440+30531T>G
n.242+37926T>G
c.1051A>C (p.Lys351Gln)
c.1465A>C (p.Lys489Gln)
6g.32293340T=CA1619500797TSBP1,TSBP1-AS1c.1327A= (p.Lys443=)
c.1330A= (p.Lys444=)
c.1306A= (p.Lys436=)
c.1333A= (p.Lys445=)
c.1285A= (p.Lys429=)
c.1318A= (p.Lys440=)
c.1387A= (p.Lys463=)
c.1366A= (p.Lys456=)
c.1363A= (p.Lys455=)
c.1345A= (p.Lys449=)
c.1309A= (p.Lys437=)
c.1288A= (p.Lys430=)
c.421+30531T= (n.421+30531T=)
n.440+30531T=
n.242+37926T=
c.1051A= (p.Lys351=)
c.1465A= (p.Lys489=)
6g.32293341C>ACA363561414TSBP1,TSBP1-AS1c.1326G>T (p.Lys442Asn)
c.1329G>T (p.Lys443Asn)
c.1305G>T (p.Lys435Asn)
c.1332G>T (p.Lys444Asn)
c.1284G>T (p.Lys428Asn)
c.1317G>T (p.Lys439Asn)
c.1386G>T (p.Lys462Asn)
c.1365G>T (p.Lys455Asn)
c.1362G>T (p.Lys454Asn)
c.1344G>T (p.Lys448Asn)
c.1308G>T (p.Lys436Asn)
c.1287G>T (p.Lys429Asn)
c.421+30532C>A (n.421+30532C>A)
n.440+30532C>A
n.242+37927C>A
c.1050G>T (p.Lys350Asn)
c.1464G>T (p.Lys488Asn)
6g.32293341C>GCA363561415TSBP1,TSBP1-AS1c.1326G>C (p.Lys442Asn)
c.1329G>C (p.Lys443Asn)
c.1305G>C (p.Lys435Asn)
c.1332G>C (p.Lys444Asn)
c.1284G>C (p.Lys428Asn)
c.1317G>C (p.Lys439Asn)
c.1386G>C (p.Lys462Asn)
c.1365G>C (p.Lys455Asn)
c.1362G>C (p.Lys454Asn)
c.1344G>C (p.Lys448Asn)
c.1308G>C (p.Lys436Asn)
c.1287G>C (p.Lys429Asn)
c.421+30532C>G (n.421+30532C>G)
n.440+30532C>G
n.242+37927C>G
c.1050G>C (p.Lys350Asn)
c.1464G>C (p.Lys488Asn)
6g.32293341C>TCA449829353TSBP1,TSBP1-AS1c.1326G>A (p.Lys442=)
c.1329G>A (p.Lys443=)
c.1305G>A (p.Lys435=)
c.1332G>A (p.Lys444=)
c.1284G>A (p.Lys428=)
c.1317G>A (p.Lys439=)
c.1386G>A (p.Lys462=)
c.1365G>A (p.Lys455=)
c.1362G>A (p.Lys454=)
c.1344G>A (p.Lys448=)
c.1308G>A (p.Lys436=)
c.1287G>A (p.Lys429=)
c.421+30532C>T (n.421+30532C>T)
n.440+30532C>T
n.242+37927C>T
c.1050G>A (p.Lys350=)
c.1464G>A (p.Lys488=)
6g.32293342T>ACA363561416TSBP1,TSBP1-AS1c.1325A>T (p.Lys442Met)
c.1328A>T (p.Lys443Met)
c.1304A>T (p.Lys435Met)
c.1331A>T (p.Lys444Met)
c.1283A>T (p.Lys428Met)
c.1316A>T (p.Lys439Met)
c.1385A>T (p.Lys462Met)
c.1364A>T (p.Lys455Met)
c.1361A>T (p.Lys454Met)
c.1343A>T (p.Lys448Met)
c.1307A>T (p.Lys436Met)
c.1286A>T (p.Lys429Met)
c.421+30533T>A (n.421+30533T>A)
n.440+30533T>A
n.242+37928T>A
c.1049A>T (p.Lys350Met)
c.1463A>T (p.Lys488Met)
6g.32293342T>CCA363561417TSBP1,TSBP1-AS1c.1325A>G (p.Lys442Arg)
c.1328A>G (p.Lys443Arg)
c.1304A>G (p.Lys435Arg)
c.1331A>G (p.Lys444Arg)
c.1283A>G (p.Lys428Arg)
c.1316A>G (p.Lys439Arg)
c.1385A>G (p.Lys462Arg)
c.1364A>G (p.Lys455Arg)
c.1361A>G (p.Lys454Arg)
c.1343A>G (p.Lys448Arg)
c.1307A>G (p.Lys436Arg)
c.1286A>G (p.Lys429Arg)
c.421+30533T>C (n.421+30533T>C)
n.440+30533T>C
n.242+37928T>C
c.1049A>G (p.Lys350Arg)
c.1463A>G (p.Lys488Arg)
6g.32293342T>GCA363561418TSBP1,TSBP1-AS1c.1325A>C (p.Lys442Thr)
c.1328A>C (p.Lys443Thr)
c.1304A>C (p.Lys435Thr)
c.1331A>C (p.Lys444Thr)
c.1283A>C (p.Lys428Thr)
c.1316A>C (p.Lys439Thr)
c.1385A>C (p.Lys462Thr)
c.1364A>C (p.Lys455Thr)
c.1361A>C (p.Lys454Thr)
c.1343A>C (p.Lys448Thr)
c.1307A>C (p.Lys436Thr)
c.1286A>C (p.Lys429Thr)
c.421+30533T>G (n.421+30533T>G)
n.440+30533T>G
n.242+37928T>G
c.1049A>C (p.Lys350Thr)
c.1463A>C (p.Lys488Thr)
6g.32293343T>ACA363561419TSBP1,TSBP1-AS1c.1324A>T (p.Lys442Ter)
c.1327A>T (p.Lys443Ter)
c.1303A>T (p.Lys435Ter)
c.1330A>T (p.Lys444Ter)
c.1282A>T (p.Lys428Ter)
c.1315A>T (p.Lys439Ter)
c.1384A>T (p.Lys462Ter)
c.1363A>T (p.Lys455Ter)
c.1360A>T (p.Lys454Ter)
c.1342A>T (p.Lys448Ter)
c.1306A>T (p.Lys436Ter)
c.1285A>T (p.Lys429Ter)
c.421+30534T>A (n.421+30534T>A)
n.440+30534T>A
n.242+37929T>A
c.1048A>T (p.Lys350Ter)
c.1462A>T (p.Lys488Ter)
6g.32293343T>CCA363561420TSBP1,TSBP1-AS1c.1324A>G (p.Lys442Glu)
c.1327A>G (p.Lys443Glu)
c.1303A>G (p.Lys435Glu)
c.1330A>G (p.Lys444Glu)
c.1282A>G (p.Lys428Glu)
c.1315A>G (p.Lys439Glu)
c.1384A>G (p.Lys462Glu)
c.1363A>G (p.Lys455Glu)
c.1360A>G (p.Lys454Glu)
c.1342A>G (p.Lys448Glu)
c.1306A>G (p.Lys436Glu)
c.1285A>G (p.Lys429Glu)
c.421+30534T>C (n.421+30534T>C)
n.440+30534T>C
n.242+37929T>C
c.1048A>G (p.Lys350Glu)
c.1462A>G (p.Lys488Glu)
6g.32293343T>GCA363561421TSBP1,TSBP1-AS1c.1324A>C (p.Lys442Gln)
c.1327A>C (p.Lys443Gln)
c.1303A>C (p.Lys435Gln)
c.1330A>C (p.Lys444Gln)
c.1282A>C (p.Lys428Gln)
c.1315A>C (p.Lys439Gln)
c.1384A>C (p.Lys462Gln)
c.1363A>C (p.Lys455Gln)
c.1360A>C (p.Lys454Gln)
c.1342A>C (p.Lys448Gln)
c.1306A>C (p.Lys436Gln)
c.1285A>C (p.Lys429Gln)
c.421+30534T>G (n.421+30534T>G)
n.440+30534T>G
n.242+37929T>G
c.1048A>C (p.Lys350Gln)
c.1462A>C (p.Lys488Gln)
6g.32293344T>ACA363561423TSBP1,TSBP1-AS1c.1323A>T (p.Glu441Asp)
c.1326A>T (p.Glu442Asp)
c.1302A>T (p.Glu434Asp)
c.1329A>T (p.Glu443Asp)
c.1281A>T (p.Glu427Asp)
c.1314A>T (p.Glu438Asp)
c.1383A>T (p.Glu461Asp)
c.1362A>T (p.Glu454Asp)
c.1359A>T (p.Glu453Asp)
c.1341A>T (p.Glu447Asp)
c.1305A>T (p.Glu435Asp)
c.1284A>T (p.Glu428Asp)
c.421+30535T>A (n.421+30535T>A)
n.440+30535T>A
n.242+37930T>A
c.1047A>T (p.Glu349Asp)
c.1461A>T (p.Glu487Asp)
6g.32293344T>CCA449829361TSBP1,TSBP1-AS1c.1323A>G (p.Glu441=)
c.1326A>G (p.Glu442=)
c.1302A>G (p.Glu434=)
c.1329A>G (p.Glu443=)
c.1281A>G (p.Glu427=)
c.1314A>G (p.Glu438=)
c.1383A>G (p.Glu461=)
c.1362A>G (p.Glu454=)
c.1359A>G (p.Glu453=)
c.1341A>G (p.Glu447=)
c.1305A>G (p.Glu435=)
c.1284A>G (p.Glu428=)
c.421+30535T>C (n.421+30535T>C)
n.440+30535T>C
n.242+37930T>C
c.1047A>G (p.Glu349=)
c.1461A>G (p.Glu487=)
6g.32293344T>GCA363561422TSBP1,TSBP1-AS1c.1323A>C (p.Glu441Asp)
c.1326A>C (p.Glu442Asp)
c.1302A>C (p.Glu434Asp)
c.1329A>C (p.Glu443Asp)
c.1281A>C (p.Glu427Asp)
c.1314A>C (p.Glu438Asp)
c.1383A>C (p.Glu461Asp)
c.1362A>C (p.Glu454Asp)
c.1359A>C (p.Glu453Asp)
c.1341A>C (p.Glu447Asp)
c.1305A>C (p.Glu435Asp)
c.1284A>C (p.Glu428Asp)
c.421+30535T>G (n.421+30535T>G)
n.440+30535T>G
n.242+37930T>G
c.1047A>C (p.Glu349Asp)
c.1461A>C (p.Glu487Asp)
6g.32293345T>ACA363561424TSBP1,TSBP1-AS1c.1322A>T (p.Glu441Val)
c.1325A>T (p.Glu442Val)
c.1301A>T (p.Glu434Val)
c.1328A>T (p.Glu443Val)
c.1280A>T (p.Glu427Val)
c.1313A>T (p.Glu438Val)
c.1382A>T (p.Glu461Val)
c.1361A>T (p.Glu454Val)
c.1358A>T (p.Glu453Val)
c.1340A>T (p.Glu447Val)
c.1304A>T (p.Glu435Val)
c.1283A>T (p.Glu428Val)
c.421+30536T>A (n.421+30536T>A)
n.440+30536T>A
n.242+37931T>A
c.1046A>T (p.Glu349Val)
c.1460A>T (p.Glu487Val)
6g.32293345T>CCA363561425TSBP1,TSBP1-AS1c.1322A>G (p.Glu441Gly)
c.1325A>G (p.Glu442Gly)
c.1301A>G (p.Glu434Gly)
c.1328A>G (p.Glu443Gly)
c.1280A>G (p.Glu427Gly)
c.1313A>G (p.Glu438Gly)
c.1382A>G (p.Glu461Gly)
c.1361A>G (p.Glu454Gly)
c.1358A>G (p.Glu453Gly)
c.1340A>G (p.Glu447Gly)
c.1304A>G (p.Glu435Gly)
c.1283A>G (p.Glu428Gly)
c.421+30536T>C (n.421+30536T>C)
n.440+30536T>C
n.242+37931T>C
c.1046A>G (p.Glu349Gly)
c.1460A>G (p.Glu487Gly)
6g.32293345T>GCA363561426TSBP1,TSBP1-AS1c.1322A>C (p.Glu441Ala)
c.1325A>C (p.Glu442Ala)
c.1301A>C (p.Glu434Ala)
c.1328A>C (p.Glu443Ala)
c.1280A>C (p.Glu427Ala)
c.1313A>C (p.Glu438Ala)
c.1382A>C (p.Glu461Ala)
c.1361A>C (p.Glu454Ala)
c.1358A>C (p.Glu453Ala)
c.1340A>C (p.Glu447Ala)
c.1304A>C (p.Glu435Ala)
c.1283A>C (p.Glu428Ala)
c.421+30536T>G (n.421+30536T>G)
n.440+30536T>G
n.242+37931T>G
c.1046A>C (p.Glu349Ala)
c.1460A>C (p.Glu487Ala)
6g.32293346C>ACA363561427TSBP1,TSBP1-AS1c.1321G>T (p.Glu441Ter)
c.1324G>T (p.Glu442Ter)
c.1300G>T (p.Glu434Ter)
c.1327G>T (p.Glu443Ter)
c.1279G>T (p.Glu427Ter)
c.1312G>T (p.Glu438Ter)
c.1381G>T (p.Glu461Ter)
c.1360G>T (p.Glu454Ter)
c.1357G>T (p.Glu453Ter)
c.1339G>T (p.Glu447Ter)
c.1303G>T (p.Glu435Ter)
c.1282G>T (p.Glu428Ter)
c.421+30537C>A (n.421+30537C>A)
n.440+30537C>A
n.242+37932C>A
c.1045G>T (p.Glu349Ter)
c.1459G>T (p.Glu487Ter)
6g.32293346C>GCA363561428TSBP1,TSBP1-AS1c.1321G>C (p.Glu441Gln)
c.1324G>C (p.Glu442Gln)
c.1300G>C (p.Glu434Gln)
c.1327G>C (p.Glu443Gln)
c.1279G>C (p.Glu427Gln)
c.1312G>C (p.Glu438Gln)
c.1381G>C (p.Glu461Gln)
c.1360G>C (p.Glu454Gln)
c.1357G>C (p.Glu453Gln)
c.1339G>C (p.Glu447Gln)
c.1303G>C (p.Glu435Gln)
c.1282G>C (p.Glu428Gln)
c.421+30537C>G (n.421+30537C>G)
n.440+30537C>G
n.242+37932C>G
c.1045G>C (p.Glu349Gln)
c.1459G>C (p.Glu487Gln)
6g.32293346C>TCA363561429TSBP1,TSBP1-AS1c.1321G>A (p.Glu441Lys)
c.1324G>A (p.Glu442Lys)
c.1300G>A (p.Glu434Lys)
c.1327G>A (p.Glu443Lys)
c.1279G>A (p.Glu427Lys)
c.1312G>A (p.Glu438Lys)
c.1381G>A (p.Glu461Lys)
c.1360G>A (p.Glu454Lys)
c.1357G>A (p.Glu453Lys)
c.1339G>A (p.Glu447Lys)
c.1303G>A (p.Glu435Lys)
c.1282G>A (p.Glu428Lys)
c.421+30537C>T (n.421+30537C>T)
n.440+30537C>T
n.242+37932C>T
c.1045G>A (p.Glu349Lys)
c.1459G>A (p.Glu487Lys)
6g.32293347T>ACA363561430TSBP1,TSBP1-AS1c.1320A>T (p.Gln440His)
c.1323A>T (p.Gln441His)
c.1299A>T (p.Gln433His)
c.1326A>T (p.Gln442His)
c.1278A>T (p.Gln426His)
c.1311A>T (p.Gln437His)
c.1380A>T (p.Gln460His)
c.1359A>T (p.Gln453His)
c.1356A>T (p.Gln452His)
c.1338A>T (p.Gln446His)
c.1302A>T (p.Gln434His)
c.1281A>T (p.Gln427His)
c.421+30538T>A (n.421+30538T>A)
n.440+30538T>A
n.242+37933T>A
c.1044A>T (p.Gln348His)
c.1458A>T (p.Gln486His)
6g.32293347T>CCA3740492TSBP1,TSBP1-AS1c.1320A>G (p.Gln440=)
c.1323A>G (p.Gln441=)
c.1299A>G (p.Gln433=)
c.1326A>G (p.Gln442=)
c.1278A>G (p.Gln426=)
c.1311A>G (p.Gln437=)
c.1380A>G (p.Gln460=)
c.1359A>G (p.Gln453=)
c.1356A>G (p.Gln452=)
c.1338A>G (p.Gln446=)
c.1302A>G (p.Gln434=)
c.1281A>G (p.Gln427=)
c.421+30538T>C (n.421+30538T>C)
n.440+30538T>C
n.242+37933T>C
c.1044A>G (p.Gln348=)
c.1458A>G (p.Gln486=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293347T>GCA363561431TSBP1,TSBP1-AS1c.1320A>C (p.Gln440His)
c.1323A>C (p.Gln441His)
c.1299A>C (p.Gln433His)
c.1326A>C (p.Gln442His)
c.1278A>C (p.Gln426His)
c.1311A>C (p.Gln437His)
c.1380A>C (p.Gln460His)
c.1359A>C (p.Gln453His)
c.1356A>C (p.Gln452His)
c.1338A>C (p.Gln446His)
c.1302A>C (p.Gln434His)
c.1281A>C (p.Gln427His)
c.421+30538T>G (n.421+30538T>G)
n.440+30538T>G
n.242+37933T>G
c.1044A>C (p.Gln348His)
c.1458A>C (p.Gln486His)
6g.32293347T=CA1619500798TSBP1,TSBP1-AS1c.1320A= (p.Gln440=)
c.1323A= (p.Gln441=)
c.1299A= (p.Gln433=)
c.1326A= (p.Gln442=)
c.1278A= (p.Gln426=)
c.1311A= (p.Gln437=)
c.1380A= (p.Gln460=)
c.1359A= (p.Gln453=)
c.1356A= (p.Gln452=)
c.1338A= (p.Gln446=)
c.1302A= (p.Gln434=)
c.1281A= (p.Gln427=)
c.421+30538T= (n.421+30538T=)
n.440+30538T=
n.242+37933T=
c.1044A= (p.Gln348=)
c.1458A= (p.Gln486=)
6g.32293348T>ACA363561432TSBP1,TSBP1-AS1c.1319A>T (p.Gln440Leu)
c.1322A>T (p.Gln441Leu)
c.1298A>T (p.Gln433Leu)
c.1325A>T (p.Gln442Leu)
c.1277A>T (p.Gln426Leu)
c.1310A>T (p.Gln437Leu)
c.1379A>T (p.Gln460Leu)
c.1358A>T (p.Gln453Leu)
c.1355A>T (p.Gln452Leu)
c.1337A>T (p.Gln446Leu)
c.1301A>T (p.Gln434Leu)
c.1280A>T (p.Gln427Leu)
c.421+30539T>A (n.421+30539T>A)
n.440+30539T>A
n.242+37934T>A
c.1043A>T (p.Gln348Leu)
c.1457A>T (p.Gln486Leu)
 dbSNP
6g.32293348T>CCA363561433TSBP1,TSBP1-AS1c.1319A>G (p.Gln440Arg)
c.1322A>G (p.Gln441Arg)
c.1298A>G (p.Gln433Arg)
c.1325A>G (p.Gln442Arg)
c.1277A>G (p.Gln426Arg)
c.1310A>G (p.Gln437Arg)
c.1379A>G (p.Gln460Arg)
c.1358A>G (p.Gln453Arg)
c.1355A>G (p.Gln452Arg)
c.1337A>G (p.Gln446Arg)
c.1301A>G (p.Gln434Arg)
c.1280A>G (p.Gln427Arg)
c.421+30539T>C (n.421+30539T>C)
n.440+30539T>C
n.242+37934T>C
c.1043A>G (p.Gln348Arg)
c.1457A>G (p.Gln486Arg)
6g.32293348T>GCA363561434TSBP1,TSBP1-AS1c.1319A>C (p.Gln440Pro)
c.1322A>C (p.Gln441Pro)
c.1298A>C (p.Gln433Pro)
c.1325A>C (p.Gln442Pro)
c.1277A>C (p.Gln426Pro)
c.1310A>C (p.Gln437Pro)
c.1379A>C (p.Gln460Pro)
c.1358A>C (p.Gln453Pro)
c.1355A>C (p.Gln452Pro)
c.1337A>C (p.Gln446Pro)
c.1301A>C (p.Gln434Pro)
c.1280A>C (p.Gln427Pro)
c.421+30539T>G (n.421+30539T>G)
n.440+30539T>G
n.242+37934T>G
c.1043A>C (p.Gln348Pro)
c.1457A>C (p.Gln486Pro)
6g.32293348T=CA1619500799TSBP1,TSBP1-AS1c.1319A= (p.Gln440=)
c.1322A= (p.Gln441=)
c.1298A= (p.Gln433=)
c.1325A= (p.Gln442=)
c.1277A= (p.Gln426=)
c.1310A= (p.Gln437=)
c.1379A= (p.Gln460=)
c.1358A= (p.Gln453=)
c.1355A= (p.Gln452=)
c.1337A= (p.Gln446=)
c.1301A= (p.Gln434=)
c.1280A= (p.Gln427=)
c.421+30539T= (n.421+30539T=)
n.440+30539T=
n.242+37934T=
c.1043A= (p.Gln348=)
c.1457A= (p.Gln486=)
6g.32293349G>ACA363561436TSBP1,TSBP1-AS1c.1318C>T (p.Gln440Ter)
c.1321C>T (p.Gln441Ter)
c.1297C>T (p.Gln433Ter)
c.1324C>T (p.Gln442Ter)
c.1276C>T (p.Gln426Ter)
c.1309C>T (p.Gln437Ter)
c.1378C>T (p.Gln460Ter)
c.1357C>T (p.Gln453Ter)
c.1354C>T (p.Gln452Ter)
c.1336C>T (p.Gln446Ter)
c.1300C>T (p.Gln434Ter)
c.1279C>T (p.Gln427Ter)
c.421+30540G>A (n.421+30540G>A)
n.440+30540G>A
n.242+37935G>A
c.1042C>T (p.Gln348Ter)
c.1456C>T (p.Gln486Ter)
6g.32293349G>CCA363561437TSBP1,TSBP1-AS1c.1318C>G (p.Gln440Glu)
c.1321C>G (p.Gln441Glu)
c.1297C>G (p.Gln433Glu)
c.1324C>G (p.Gln442Glu)
c.1276C>G (p.Gln426Glu)
c.1309C>G (p.Gln437Glu)
c.1378C>G (p.Gln460Glu)
c.1357C>G (p.Gln453Glu)
c.1354C>G (p.Gln452Glu)
c.1336C>G (p.Gln446Glu)
c.1300C>G (p.Gln434Glu)
c.1279C>G (p.Gln427Glu)
c.421+30540G>C (n.421+30540G>C)
n.440+30540G>C
n.242+37935G>C
c.1042C>G (p.Gln348Glu)
c.1456C>G (p.Gln486Glu)
6g.32293349G>TCA363561435TSBP1,TSBP1-AS1c.1318C>A (p.Gln440Lys)
c.1321C>A (p.Gln441Lys)
c.1297C>A (p.Gln433Lys)
c.1324C>A (p.Gln442Lys)
c.1276C>A (p.Gln426Lys)
c.1309C>A (p.Gln437Lys)
c.1378C>A (p.Gln460Lys)
c.1357C>A (p.Gln453Lys)
c.1354C>A (p.Gln452Lys)
c.1336C>A (p.Gln446Lys)
c.1300C>A (p.Gln434Lys)
c.1279C>A (p.Gln427Lys)
c.421+30540G>T (n.421+30540G>T)
n.440+30540G>T
n.242+37935G>T
c.1042C>A (p.Gln348Lys)
c.1456C>A (p.Gln486Lys)
6g.32293350G>ACA449829370TSBP1,TSBP1-AS1c.1317C>T (p.Val439=)
c.1320C>T (p.Val440=)
c.1296C>T (p.Val432=)
c.1323C>T (p.Val441=)
c.1275C>T (p.Val425=)
c.1308C>T (p.Val436=)
c.1377C>T (p.Val459=)
c.1356C>T (p.Val452=)
c.1353C>T (p.Val451=)
c.1335C>T (p.Val445=)
c.1299C>T (p.Val433=)
c.1278C>T (p.Val426=)
c.421+30541G>A (n.421+30541G>A)
n.440+30541G>A
n.242+37936G>A
c.1041C>T (p.Val347=)
c.1455C>T (p.Val485=)
 gnomAD v4
6g.32293350G>CCA449829371TSBP1,TSBP1-AS1c.1317C>G (p.Val439=)
c.1320C>G (p.Val440=)
c.1296C>G (p.Val432=)
c.1323C>G (p.Val441=)
c.1275C>G (p.Val425=)
c.1308C>G (p.Val436=)
c.1377C>G (p.Val459=)
c.1356C>G (p.Val452=)
c.1353C>G (p.Val451=)
c.1335C>G (p.Val445=)
c.1299C>G (p.Val433=)
c.1278C>G (p.Val426=)
c.421+30541G>C (n.421+30541G>C)
n.440+30541G>C
n.242+37936G>C
c.1041C>G (p.Val347=)
c.1455C>G (p.Val485=)
 gnomAD v4
6g.32293350G>TCA449829373TSBP1,TSBP1-AS1c.1317C>A (p.Val439=)
c.1320C>A (p.Val440=)
c.1296C>A (p.Val432=)
c.1323C>A (p.Val441=)
c.1275C>A (p.Val425=)
c.1308C>A (p.Val436=)
c.1377C>A (p.Val459=)
c.1356C>A (p.Val452=)
c.1353C>A (p.Val451=)
c.1335C>A (p.Val445=)
c.1299C>A (p.Val433=)
c.1278C>A (p.Val426=)
c.421+30541G>T (n.421+30541G>T)
n.440+30541G>T
n.242+37936G>T
c.1041C>A (p.Val347=)
c.1455C>A (p.Val485=)
6g.32293351A=CA1619500800TSBP1,TSBP1-AS1c.1316T= (p.Val439=)
c.1319T= (p.Val440=)
c.1295T= (p.Val432=)
c.1322T= (p.Val441=)
c.1274T= (p.Val425=)
c.1307T= (p.Val436=)
c.1376T= (p.Val459=)
c.1355T= (p.Val452=)
c.1352T= (p.Val451=)
c.1334T= (p.Val445=)
c.1298T= (p.Val433=)
c.1277T= (p.Val426=)
c.421+30542A= (n.421+30542A=)
n.440+30542A=
n.242+37937A=
c.1040T= (p.Val347=)
c.1454T= (p.Val485=)
6g.32293351A>CCA363561439TSBP1,TSBP1-AS1c.1316T>G (p.Val439Gly)
c.1319T>G (p.Val440Gly)
c.1295T>G (p.Val432Gly)
c.1322T>G (p.Val441Gly)
c.1274T>G (p.Val425Gly)
c.1307T>G (p.Val436Gly)
c.1376T>G (p.Val459Gly)
c.1355T>G (p.Val452Gly)
c.1352T>G (p.Val451Gly)
c.1334T>G (p.Val445Gly)
c.1298T>G (p.Val433Gly)
c.1277T>G (p.Val426Gly)
c.421+30542A>C (n.421+30542A>C)
n.440+30542A>C
n.242+37937A>C
c.1040T>G (p.Val347Gly)
c.1454T>G (p.Val485Gly)
 dbSNP
6g.32293351A>GCA3740493TSBP1,TSBP1-AS1c.1316T>C (p.Val439Ala)
c.1319T>C (p.Val440Ala)
c.1295T>C (p.Val432Ala)
c.1322T>C (p.Val441Ala)
c.1274T>C (p.Val425Ala)
c.1307T>C (p.Val436Ala)
c.1376T>C (p.Val459Ala)
c.1355T>C (p.Val452Ala)
c.1352T>C (p.Val451Ala)
c.1334T>C (p.Val445Ala)
c.1298T>C (p.Val433Ala)
c.1277T>C (p.Val426Ala)
c.421+30542A>G (n.421+30542A>G)
n.440+30542A>G
n.242+37937A>G
c.1040T>C (p.Val347Ala)
c.1454T>C (p.Val485Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32293351A>TCA363561438TSBP1,TSBP1-AS1c.1316T>A (p.Val439Asp)
c.1319T>A (p.Val440Asp)
c.1295T>A (p.Val432Asp)
c.1322T>A (p.Val441Asp)
c.1274T>A (p.Val425Asp)
c.1307T>A (p.Val436Asp)
c.1376T>A (p.Val459Asp)
c.1355T>A (p.Val452Asp)
c.1352T>A (p.Val451Asp)
c.1334T>A (p.Val445Asp)
c.1298T>A (p.Val433Asp)
c.1277T>A (p.Val426Asp)
c.421+30542A>T (n.421+30542A>T)
n.440+30542A>T
n.242+37937A>T
c.1040T>A (p.Val347Asp)
c.1454T>A (p.Val485Asp)
 gnomAD v3 gnomAD v4
6g.32293352C>ACA363561440TSBP1,TSBP1-AS1c.1315G>T (p.Val439Phe)
c.1318G>T (p.Val440Phe)
c.1294G>T (p.Val432Phe)
c.1321G>T (p.Val441Phe)
c.1273G>T (p.Val425Phe)
c.1306G>T (p.Val436Phe)
c.1375G>T (p.Val459Phe)
c.1354G>T (p.Val452Phe)
c.1351G>T (p.Val451Phe)
c.1333G>T (p.Val445Phe)
c.1297G>T (p.Val433Phe)
c.1276G>T (p.Val426Phe)
c.421+30543C>A (n.421+30543C>A)
n.440+30543C>A
n.242+37938C>A
c.1039G>T (p.Val347Phe)
c.1453G>T (p.Val485Phe)
6g.32293352C=CA1619500801TSBP1,TSBP1-AS1c.1315G= (p.Val439=)
c.1318G= (p.Val440=)
c.1294G= (p.Val432=)
c.1321G= (p.Val441=)
c.1273G= (p.Val425=)
c.1306G= (p.Val436=)
c.1375G= (p.Val459=)
c.1354G= (p.Val452=)
c.1351G= (p.Val451=)
c.1333G= (p.Val445=)
c.1297G= (p.Val433=)
c.1276G= (p.Val426=)
c.421+30543C= (n.421+30543C=)
n.440+30543C=
n.242+37938C=
c.1039G= (p.Val347=)
c.1453G= (p.Val485=)
6g.32293352C>GCA363561441TSBP1,TSBP1-AS1c.1315G>C (p.Val439Leu)
c.1318G>C (p.Val440Leu)
c.1294G>C (p.Val432Leu)
c.1321G>C (p.Val441Leu)
c.1273G>C (p.Val425Leu)
c.1306G>C (p.Val436Leu)
c.1375G>C (p.Val459Leu)
c.1354G>C (p.Val452Leu)
c.1351G>C (p.Val451Leu)
c.1333G>C (p.Val445Leu)
c.1297G>C (p.Val433Leu)
c.1276G>C (p.Val426Leu)
c.421+30543C>G (n.421+30543C>G)
n.440+30543C>G
n.242+37938C>G
c.1039G>C (p.Val347Leu)
c.1453G>C (p.Val485Leu)
6g.32293352C>TCA363561442TSBP1,TSBP1-AS1c.1315G>A (p.Val439Ile)
c.1318G>A (p.Val440Ile)
c.1294G>A (p.Val432Ile)
c.1321G>A (p.Val441Ile)
c.1273G>A (p.Val425Ile)
c.1306G>A (p.Val436Ile)
c.1375G>A (p.Val459Ile)
c.1354G>A (p.Val452Ile)
c.1351G>A (p.Val451Ile)
c.1333G>A (p.Val445Ile)
c.1297G>A (p.Val433Ile)
c.1276G>A (p.Val426Ile)
c.421+30543C>T (n.421+30543C>T)
n.440+30543C>T
n.242+37938C>T
c.1039G>A (p.Val347Ile)
c.1453G>A (p.Val485Ile)
 dbSNP
6g.32293353C>ACA363561443TSBP1,TSBP1-AS1c.1314G>T (p.Glu438Asp)
c.1317G>T (p.Glu439Asp)
c.1293G>T (p.Glu431Asp)
c.1320G>T (p.Glu440Asp)
c.1272G>T (p.Glu424Asp)
c.1305G>T (p.Glu435Asp)
c.1374G>T (p.Glu458Asp)
c.1353G>T (p.Glu451Asp)
c.1350G>T (p.Glu450Asp)
c.1332G>T (p.Glu444Asp)
c.1296G>T (p.Glu432Asp)
c.1275G>T (p.Glu425Asp)
c.421+30544C>A (n.421+30544C>A)
n.440+30544C>A
n.242+37939C>A
c.1038G>T (p.Glu346Asp)
c.1452G>T (p.Glu484Asp)
6g.32293353C>GCA363561444TSBP1,TSBP1-AS1c.1314G>C (p.Glu438Asp)
c.1317G>C (p.Glu439Asp)
c.1293G>C (p.Glu431Asp)
c.1320G>C (p.Glu440Asp)
c.1272G>C (p.Glu424Asp)
c.1305G>C (p.Glu435Asp)
c.1374G>C (p.Glu458Asp)
c.1353G>C (p.Glu451Asp)
c.1350G>C (p.Glu450Asp)
c.1332G>C (p.Glu444Asp)
c.1296G>C (p.Glu432Asp)
c.1275G>C (p.Glu425Asp)
c.421+30544C>G (n.421+30544C>G)
n.440+30544C>G
n.242+37939C>G
c.1038G>C (p.Glu346Asp)
c.1452G>C (p.Glu484Asp)
6g.32293353C>TCA449829381TSBP1,TSBP1-AS1c.1314G>A (p.Glu438=)
c.1317G>A (p.Glu439=)
c.1293G>A (p.Glu431=)
c.1320G>A (p.Glu440=)
c.1272G>A (p.Glu424=)
c.1305G>A (p.Glu435=)
c.1374G>A (p.Glu458=)
c.1353G>A (p.Glu451=)
c.1350G>A (p.Glu450=)
c.1332G>A (p.Glu444=)
c.1296G>A (p.Glu432=)
c.1275G>A (p.Glu425=)
c.421+30544C>T (n.421+30544C>T)
n.440+30544C>T
n.242+37939C>T
c.1038G>A (p.Glu346=)
c.1452G>A (p.Glu484=)
6g.32293354T>ACA363561445TSBP1,TSBP1-AS1c.1313A>T (p.Glu438Val)
c.1316A>T (p.Glu439Val)
c.1292A>T (p.Glu431Val)
c.1319A>T (p.Glu440Val)
c.1271A>T (p.Glu424Val)
c.1304A>T (p.Glu435Val)
c.1373A>T (p.Glu458Val)
c.1352A>T (p.Glu451Val)
c.1349A>T (p.Glu450Val)
c.1331A>T (p.Glu444Val)
c.1295A>T (p.Glu432Val)
c.1274A>T (p.Glu425Val)
c.421+30545T>A (n.421+30545T>A)
n.440+30545T>A
n.242+37940T>A
c.1037A>T (p.Glu346Val)
c.1451A>T (p.Glu484Val)
6g.32293354T>CCA363561446TSBP1,TSBP1-AS1c.1313A>G (p.Glu438Gly)
c.1316A>G (p.Glu439Gly)
c.1292A>G (p.Glu431Gly)
c.1319A>G (p.Glu440Gly)
c.1271A>G (p.Glu424Gly)
c.1304A>G (p.Glu435Gly)
c.1373A>G (p.Glu458Gly)
c.1352A>G (p.Glu451Gly)
c.1349A>G (p.Glu450Gly)
c.1331A>G (p.Glu444Gly)
c.1295A>G (p.Glu432Gly)
c.1274A>G (p.Glu425Gly)
c.421+30545T>C (n.421+30545T>C)
n.440+30545T>C
n.242+37940T>C
c.1037A>G (p.Glu346Gly)
c.1451A>G (p.Glu484Gly)
6g.32293354T>GCA363561447TSBP1,TSBP1-AS1c.1313A>C (p.Glu438Ala)
c.1316A>C (p.Glu439Ala)
c.1292A>C (p.Glu431Ala)
c.1319A>C (p.Glu440Ala)
c.1271A>C (p.Glu424Ala)
c.1304A>C (p.Glu435Ala)
c.1373A>C (p.Glu458Ala)
c.1352A>C (p.Glu451Ala)
c.1349A>C (p.Glu450Ala)
c.1331A>C (p.Glu444Ala)
c.1295A>C (p.Glu432Ala)
c.1274A>C (p.Glu425Ala)
c.421+30545T>G (n.421+30545T>G)
n.440+30545T>G
n.242+37940T>G
c.1037A>C (p.Glu346Ala)
c.1451A>C (p.Glu484Ala)
6g.32293355C>ACA363561448TSBP1,TSBP1-AS1c.1312G>T (p.Glu438Ter)
c.1315G>T (p.Glu439Ter)
c.1291G>T (p.Glu431Ter)
c.1318G>T (p.Glu440Ter)
c.1270G>T (p.Glu424Ter)
c.1303G>T (p.Glu435Ter)
c.1372G>T (p.Glu458Ter)
c.1351G>T (p.Glu451Ter)
c.1348G>T (p.Glu450Ter)
c.1330G>T (p.Glu444Ter)
c.1294G>T (p.Glu432Ter)
c.1273G>T (p.Glu425Ter)
c.421+30546C>A (n.421+30546C>A)
n.440+30546C>A
n.242+37941C>A
c.1036G>T (p.Glu346Ter)
c.1450G>T (p.Glu484Ter)
 COSMIC
6g.32293355C>GCA363561449TSBP1,TSBP1-AS1c.1312G>C (p.Glu438Gln)
c.1315G>C (p.Glu439Gln)
c.1291G>C (p.Glu431Gln)
c.1318G>C (p.Glu440Gln)
c.1270G>C (p.Glu424Gln)
c.1303G>C (p.Glu435Gln)
c.1372G>C (p.Glu458Gln)
c.1351G>C (p.Glu451Gln)
c.1348G>C (p.Glu450Gln)
c.1330G>C (p.Glu444Gln)
c.1294G>C (p.Glu432Gln)
c.1273G>C (p.Glu425Gln)
c.421+30546C>G (n.421+30546C>G)
n.440+30546C>G
n.242+37941C>G
c.1036G>C (p.Glu346Gln)
c.1450G>C (p.Glu484Gln)
6g.32293355C>TCA363561450TSBP1,TSBP1-AS1c.1312G>A (p.Glu438Lys)
c.1315G>A (p.Glu439Lys)
c.1291G>A (p.Glu431Lys)
c.1318G>A (p.Glu440Lys)
c.1270G>A (p.Glu424Lys)
c.1303G>A (p.Glu435Lys)
c.1372G>A (p.Glu458Lys)
c.1351G>A (p.Glu451Lys)
c.1348G>A (p.Glu450Lys)
c.1330G>A (p.Glu444Lys)
c.1294G>A (p.Glu432Lys)
c.1273G>A (p.Glu425Lys)
c.421+30546C>T (n.421+30546C>T)
n.440+30546C>T
n.242+37941C>T
c.1036G>A (p.Glu346Lys)
c.1450G>A (p.Glu484Lys)
6g.32293356T>ACA363561451TSBP1,TSBP1-AS1c.1311A>T (p.Gln437His)
c.1314A>T (p.Gln438His)
c.1290A>T (p.Gln430His)
c.1317A>T (p.Gln439His)
c.1269A>T (p.Gln423His)
c.1302A>T (p.Gln434His)
c.1371A>T (p.Gln457His)
c.1350A>T (p.Gln450His)
c.1347A>T (p.Gln449His)
c.1329A>T (p.Gln443His)
c.1293A>T (p.Gln431His)
c.1272A>T (p.Gln424His)
c.421+30547T>A (n.421+30547T>A)
n.440+30547T>A
n.242+37942T>A
c.1035A>T (p.Gln345His)
c.1449A>T (p.Gln483His)
6g.32293356T>CCA449829385TSBP1,TSBP1-AS1c.1311A>G (p.Gln437=)
c.1314A>G (p.Gln438=)
c.1290A>G (p.Gln430=)
c.1317A>G (p.Gln439=)
c.1269A>G (p.Gln423=)
c.1302A>G (p.Gln434=)
c.1371A>G (p.Gln457=)
c.1350A>G (p.Gln450=)
c.1347A>G (p.Gln449=)
c.1329A>G (p.Gln443=)
c.1293A>G (p.Gln431=)
c.1272A>G (p.Gln424=)
c.421+30547T>C (n.421+30547T>C)
n.440+30547T>C
n.242+37942T>C
c.1035A>G (p.Gln345=)
c.1449A>G (p.Gln483=)
6g.32293356T>GCA363561452TSBP1,TSBP1-AS1c.1311A>C (p.Gln437His)
c.1314A>C (p.Gln438His)
c.1290A>C (p.Gln430His)
c.1317A>C (p.Gln439His)
c.1269A>C (p.Gln423His)
c.1302A>C (p.Gln434His)
c.1371A>C (p.Gln457His)
c.1350A>C (p.Gln450His)
c.1347A>C (p.Gln449His)
c.1329A>C (p.Gln443His)
c.1293A>C (p.Gln431His)
c.1272A>C (p.Gln424His)
c.421+30547T>G (n.421+30547T>G)
n.440+30547T>G
n.242+37942T>G
c.1035A>C (p.Gln345His)
c.1449A>C (p.Gln483His)
6g.32293357T>ACA363561453TSBP1,TSBP1-AS1c.1310A>T (p.Gln437Leu)
c.1313A>T (p.Gln438Leu)
c.1289A>T (p.Gln430Leu)
c.1316A>T (p.Gln439Leu)
c.1268A>T (p.Gln423Leu)
c.1301A>T (p.Gln434Leu)
c.1370A>T (p.Gln457Leu)
c.1349A>T (p.Gln450Leu)
c.1346A>T (p.Gln449Leu)
c.1328A>T (p.Gln443Leu)
c.1292A>T (p.Gln431Leu)
c.1271A>T (p.Gln424Leu)
c.421+30548T>A (n.421+30548T>A)
n.440+30548T>A
n.242+37943T>A
c.1034A>T (p.Gln345Leu)
c.1448A>T (p.Gln483Leu)
6g.32293357T>CCA363561454TSBP1,TSBP1-AS1c.1310A>G (p.Gln437Arg)
c.1313A>G (p.Gln438Arg)
c.1289A>G (p.Gln430Arg)
c.1316A>G (p.Gln439Arg)
c.1268A>G (p.Gln423Arg)
c.1301A>G (p.Gln434Arg)
c.1370A>G (p.Gln457Arg)
c.1349A>G (p.Gln450Arg)
c.1346A>G (p.Gln449Arg)
c.1328A>G (p.Gln443Arg)
c.1292A>G (p.Gln431Arg)
c.1271A>G (p.Gln424Arg)
c.421+30548T>C (n.421+30548T>C)
n.440+30548T>C
n.242+37943T>C
c.1034A>G (p.Gln345Arg)
c.1448A>G (p.Gln483Arg)
6g.32293357T>GCA363561455TSBP1,TSBP1-AS1c.1310A>C (p.Gln437Pro)
c.1313A>C (p.Gln438Pro)
c.1289A>C (p.Gln430Pro)
c.1316A>C (p.Gln439Pro)
c.1268A>C (p.Gln423Pro)
c.1301A>C (p.Gln434Pro)
c.1370A>C (p.Gln457Pro)
c.1349A>C (p.Gln450Pro)
c.1346A>C (p.Gln449Pro)
c.1328A>C (p.Gln443Pro)
c.1292A>C (p.Gln431Pro)
c.1271A>C (p.Gln424Pro)
c.421+30548T>G (n.421+30548T>G)
n.440+30548T>G
n.242+37943T>G
c.1034A>C (p.Gln345Pro)
c.1448A>C (p.Gln483Pro)
6g.32293358G>ACA363561456TSBP1,TSBP1-AS1c.1309C>T (p.Gln437Ter)
c.1312C>T (p.Gln438Ter)
c.1288C>T (p.Gln430Ter)
c.1315C>T (p.Gln439Ter)
c.1267C>T (p.Gln423Ter)
c.1300C>T (p.Gln434Ter)
c.1369C>T (p.Gln457Ter)
c.1348C>T (p.Gln450Ter)
c.1345C>T (p.Gln449Ter)
c.1327C>T (p.Gln443Ter)
c.1291C>T (p.Gln431Ter)
c.1270C>T (p.Gln424Ter)
c.421+30549G>A (n.421+30549G>A)
n.440+30549G>A
n.242+37944G>A
c.1033C>T (p.Gln345Ter)
c.1447C>T (p.Gln483Ter)
6g.32293358G>CCA363561457TSBP1,TSBP1-AS1c.1309C>G (p.Gln437Glu)
c.1312C>G (p.Gln438Glu)
c.1288C>G (p.Gln430Glu)
c.1315C>G (p.Gln439Glu)
c.1267C>G (p.Gln423Glu)
c.1300C>G (p.Gln434Glu)
c.1369C>G (p.Gln457Glu)
c.1348C>G (p.Gln450Glu)
c.1345C>G (p.Gln449Glu)
c.1327C>G (p.Gln443Glu)
c.1291C>G (p.Gln431Glu)
c.1270C>G (p.Gln424Glu)
c.421+30549G>C (n.421+30549G>C)
n.440+30549G>C
n.242+37944G>C
c.1033C>G (p.Gln345Glu)
c.1447C>G (p.Gln483Glu)
6g.32293358G>TCA363561458TSBP1,TSBP1-AS1c.1309C>A (p.Gln437Lys)
c.1312C>A (p.Gln438Lys)
c.1288C>A (p.Gln430Lys)
c.1315C>A (p.Gln439Lys)
c.1267C>A (p.Gln423Lys)
c.1300C>A (p.Gln434Lys)
c.1369C>A (p.Gln457Lys)
c.1348C>A (p.Gln450Lys)
c.1345C>A (p.Gln449Lys)
c.1327C>A (p.Gln443Lys)
c.1291C>A (p.Gln431Lys)
c.1270C>A (p.Gln424Lys)
c.421+30549G>T (n.421+30549G>T)
n.440+30549G>T
n.242+37944G>T
c.1033C>A (p.Gln345Lys)
c.1447C>A (p.Gln483Lys)
6g.32293359T>ACA363561459TSBP1,TSBP1-AS1c.1308A>T (p.Glu436Asp)
c.1311A>T (p.Glu437Asp)
c.1287A>T (p.Glu429Asp)
c.1314A>T (p.Glu438Asp)
c.1266A>T (p.Glu422Asp)
c.1299A>T (p.Glu433Asp)
c.1368A>T (p.Glu456Asp)
c.1347A>T (p.Glu449Asp)
c.1344A>T (p.Glu448Asp)
c.1326A>T (p.Glu442Asp)
c.1290A>T (p.Glu430Asp)
c.1269A>T (p.Glu423Asp)
c.421+30550T>A (n.421+30550T>A)
n.440+30550T>A
n.242+37945T>A
c.1032A>T (p.Glu344Asp)
c.1446A>T (p.Glu482Asp)
6g.32293359T>CCA449829391TSBP1,TSBP1-AS1c.1308A>G (p.Glu436=)
c.1311A>G (p.Glu437=)
c.1287A>G (p.Glu429=)
c.1314A>G (p.Glu438=)
c.1266A>G (p.Glu422=)
c.1299A>G (p.Glu433=)
c.1368A>G (p.Glu456=)
c.1347A>G (p.Glu449=)
c.1344A>G (p.Glu448=)
c.1326A>G (p.Glu442=)
c.1290A>G (p.Glu430=)
c.1269A>G (p.Glu423=)
c.421+30550T>C (n.421+30550T>C)
n.440+30550T>C
n.242+37945T>C
c.1032A>G (p.Glu344=)
c.1446A>G (p.Glu482=)
6g.32293359T>GCA363561460TSBP1,TSBP1-AS1c.1308A>C (p.Glu436Asp)
c.1311A>C (p.Glu437Asp)
c.1287A>C (p.Glu429Asp)
c.1314A>C (p.Glu438Asp)
c.1266A>C (p.Glu422Asp)
c.1299A>C (p.Glu433Asp)
c.1368A>C (p.Glu456Asp)
c.1347A>C (p.Glu449Asp)
c.1344A>C (p.Glu448Asp)
c.1326A>C (p.Glu442Asp)
c.1290A>C (p.Glu430Asp)
c.1269A>C (p.Glu423Asp)
c.421+30550T>G (n.421+30550T>G)
n.440+30550T>G
n.242+37945T>G
c.1032A>C (p.Glu344Asp)
c.1446A>C (p.Glu482Asp)
6g.32293360T>ACA363561461TSBP1,TSBP1-AS1c.1307A>T (p.Glu436Val)
c.1310A>T (p.Glu437Val)
c.1286A>T (p.Glu429Val)
c.1313A>T (p.Glu438Val)
c.1265A>T (p.Glu422Val)
c.1298A>T (p.Glu433Val)
c.1367A>T (p.Glu456Val)
c.1346A>T (p.Glu449Val)
c.1343A>T (p.Glu448Val)
c.1325A>T (p.Glu442Val)
c.1289A>T (p.Glu430Val)
c.1268A>T (p.Glu423Val)
c.421+30551T>A (n.421+30551T>A)
n.440+30551T>A
n.242+37946T>A
c.1031A>T (p.Glu344Val)
c.1445A>T (p.Glu482Val)
6g.32293360T>CCA363561462TSBP1,TSBP1-AS1c.1307A>G (p.Glu436Gly)
c.1310A>G (p.Glu437Gly)
c.1286A>G (p.Glu429Gly)
c.1313A>G (p.Glu438Gly)
c.1265A>G (p.Glu422Gly)
c.1298A>G (p.Glu433Gly)
c.1367A>G (p.Glu456Gly)
c.1346A>G (p.Glu449Gly)
c.1343A>G (p.Glu448Gly)
c.1325A>G (p.Glu442Gly)
c.1289A>G (p.Glu430Gly)
c.1268A>G (p.Glu423Gly)
c.421+30551T>C (n.421+30551T>C)
n.440+30551T>C
n.242+37946T>C
c.1031A>G (p.Glu344Gly)
c.1445A>G (p.Glu482Gly)
6g.32293360T>GCA363561463TSBP1,TSBP1-AS1c.1307A>C (p.Glu436Ala)
c.1310A>C (p.Glu437Ala)
c.1286A>C (p.Glu429Ala)
c.1313A>C (p.Glu438Ala)
c.1265A>C (p.Glu422Ala)
c.1298A>C (p.Glu433Ala)
c.1367A>C (p.Glu456Ala)
c.1346A>C (p.Glu449Ala)
c.1343A>C (p.Glu448Ala)
c.1325A>C (p.Glu442Ala)
c.1289A>C (p.Glu430Ala)
c.1268A>C (p.Glu423Ala)
c.421+30551T>G (n.421+30551T>G)
n.440+30551T>G
n.242+37946T>G
c.1031A>C (p.Glu344Ala)
c.1445A>C (p.Glu482Ala)
6g.32293361C>ACA363561465TSBP1,TSBP1-AS1c.1306G>T (p.Glu436Ter)
c.1309G>T (p.Glu437Ter)
c.1285G>T (p.Glu429Ter)
c.1312G>T (p.Glu438Ter)
c.1264G>T (p.Glu422Ter)
c.1297G>T (p.Glu433Ter)
c.1366G>T (p.Glu456Ter)
c.1345G>T (p.Glu449Ter)
c.1342G>T (p.Glu448Ter)
c.1324G>T (p.Glu442Ter)
c.1288G>T (p.Glu430Ter)
c.1267G>T (p.Glu423Ter)
c.421+30552C>A (n.421+30552C>A)
n.440+30552C>A
n.242+37947C>A
c.1030G>T (p.Glu344Ter)
c.1444G>T (p.Glu482Ter)
6g.32293361C>GCA363561466TSBP1,TSBP1-AS1c.1306G>C (p.Glu436Gln)
c.1309G>C (p.Glu437Gln)
c.1285G>C (p.Glu429Gln)
c.1312G>C (p.Glu438Gln)
c.1264G>C (p.Glu422Gln)
c.1297G>C (p.Glu433Gln)
c.1366G>C (p.Glu456Gln)
c.1345G>C (p.Glu449Gln)
c.1342G>C (p.Glu448Gln)
c.1324G>C (p.Glu442Gln)
c.1288G>C (p.Glu430Gln)
c.1267G>C (p.Glu423Gln)
c.421+30552C>G (n.421+30552C>G)
n.440+30552C>G
n.242+37947C>G
c.1030G>C (p.Glu344Gln)
c.1444G>C (p.Glu482Gln)
6g.32293361C>TCA363561464TSBP1,TSBP1-AS1c.1306G>A (p.Glu436Lys)
c.1309G>A (p.Glu437Lys)
c.1285G>A (p.Glu429Lys)
c.1312G>A (p.Glu438Lys)
c.1264G>A (p.Glu422Lys)
c.1297G>A (p.Glu433Lys)
c.1366G>A (p.Glu456Lys)
c.1345G>A (p.Glu449Lys)
c.1342G>A (p.Glu448Lys)
c.1324G>A (p.Glu442Lys)
c.1288G>A (p.Glu430Lys)
c.1267G>A (p.Glu423Lys)
c.421+30552C>T (n.421+30552C>T)
n.440+30552C>T
n.242+37947C>T
c.1030G>A (p.Glu344Lys)
c.1444G>A (p.Glu482Lys)
 COSMIC
6g.32293362C>ACA363561467TSBP1,TSBP1-AS1c.1305G>T (p.Lys435Asn)
c.1308G>T (p.Lys436Asn)
c.1284G>T (p.Lys428Asn)
c.1311G>T (p.Lys437Asn)
c.1263G>T (p.Lys421Asn)
c.1296G>T (p.Lys432Asn)
c.1365G>T (p.Lys455Asn)
c.1344G>T (p.Lys448Asn)
c.1341G>T (p.Lys447Asn)
c.1323G>T (p.Lys441Asn)
c.1287G>T (p.Lys429Asn)
c.1266G>T (p.Lys422Asn)
c.421+30553C>A (n.421+30553C>A)
n.440+30553C>A
n.242+37948C>A
c.1029G>T (p.Lys343Asn)
c.1443G>T (p.Lys481Asn)
6g.32293362C>GCA363561468TSBP1,TSBP1-AS1c.1305G>C (p.Lys435Asn)
c.1308G>C (p.Lys436Asn)
c.1284G>C (p.Lys428Asn)
c.1311G>C (p.Lys437Asn)
c.1263G>C (p.Lys421Asn)
c.1296G>C (p.Lys432Asn)
c.1365G>C (p.Lys455Asn)
c.1344G>C (p.Lys448Asn)
c.1341G>C (p.Lys447Asn)
c.1323G>C (p.Lys441Asn)
c.1287G>C (p.Lys429Asn)
c.1266G>C (p.Lys422Asn)
c.421+30553C>G (n.421+30553C>G)
n.440+30553C>G
n.242+37948C>G
c.1029G>C (p.Lys343Asn)
c.1443G>C (p.Lys481Asn)
6g.32293362C>TCA449829399TSBP1,TSBP1-AS1c.1305G>A (p.Lys435=)
c.1308G>A (p.Lys436=)
c.1284G>A (p.Lys428=)
c.1311G>A (p.Lys437=)
c.1263G>A (p.Lys421=)
c.1296G>A (p.Lys432=)
c.1365G>A (p.Lys455=)
c.1344G>A (p.Lys448=)
c.1341G>A (p.Lys447=)
c.1323G>A (p.Lys441=)
c.1287G>A (p.Lys429=)
c.1266G>A (p.Lys422=)
c.421+30553C>T (n.421+30553C>T)
n.440+30553C>T
n.242+37948C>T
c.1029G>A (p.Lys343=)
c.1443G>A (p.Lys481=)
6g.32293363T>ACA363561469TSBP1,TSBP1-AS1c.1304A>T (p.Lys435Met)
c.1307A>T (p.Lys436Met)
c.1283A>T (p.Lys428Met)
c.1310A>T (p.Lys437Met)
c.1262A>T (p.Lys421Met)
c.1295A>T (p.Lys432Met)
c.1364A>T (p.Lys455Met)
c.1343A>T (p.Lys448Met)
c.1340A>T (p.Lys447Met)
c.1322A>T (p.Lys441Met)
c.1286A>T (p.Lys429Met)
c.1265A>T (p.Lys422Met)
c.421+30554T>A (n.421+30554T>A)
n.440+30554T>A
n.242+37949T>A
c.1028A>T (p.Lys343Met)
c.1442A>T (p.Lys481Met)
6g.32293363T>CCA363561470TSBP1,TSBP1-AS1c.1304A>G (p.Lys435Arg)
c.1307A>G (p.Lys436Arg)
c.1283A>G (p.Lys428Arg)
c.1310A>G (p.Lys437Arg)
c.1262A>G (p.Lys421Arg)
c.1295A>G (p.Lys432Arg)
c.1364A>G (p.Lys455Arg)
c.1343A>G (p.Lys448Arg)
c.1340A>G (p.Lys447Arg)
c.1322A>G (p.Lys441Arg)
c.1286A>G (p.Lys429Arg)
c.1265A>G (p.Lys422Arg)
c.421+30554T>C (n.421+30554T>C)
n.440+30554T>C
n.242+37949T>C
c.1028A>G (p.Lys343Arg)
c.1442A>G (p.Lys481Arg)
6g.32293363T>GCA363561471TSBP1,TSBP1-AS1c.1304A>C (p.Lys435Thr)
c.1307A>C (p.Lys436Thr)
c.1283A>C (p.Lys428Thr)
c.1310A>C (p.Lys437Thr)
c.1262A>C (p.Lys421Thr)
c.1295A>C (p.Lys432Thr)
c.1364A>C (p.Lys455Thr)
c.1343A>C (p.Lys448Thr)
c.1340A>C (p.Lys447Thr)
c.1322A>C (p.Lys441Thr)
c.1286A>C (p.Lys429Thr)
c.1265A>C (p.Lys422Thr)
c.421+30554T>G (n.421+30554T>G)
n.440+30554T>G
n.242+37949T>G
c.1028A>C (p.Lys343Thr)
c.1442A>C (p.Lys481Thr)
6g.32293364T>ACA363561472TSBP1,TSBP1-AS1c.1303A>T (p.Lys435Ter)
c.1306A>T (p.Lys436Ter)
c.1282A>T (p.Lys428Ter)
c.1309A>T (p.Lys437Ter)
c.1261A>T (p.Lys421Ter)
c.1294A>T (p.Lys432Ter)
c.1363A>T (p.Lys455Ter)
c.1342A>T (p.Lys448Ter)
c.1339A>T (p.Lys447Ter)
c.1321A>T (p.Lys441Ter)
c.1285A>T (p.Lys429Ter)
c.1264A>T (p.Lys422Ter)
c.421+30555T>A (n.421+30555T>A)
n.440+30555T>A
n.242+37950T>A
c.1027A>T (p.Lys343Ter)
c.1441A>T (p.Lys481Ter)
6g.32293364T>CCA363561473TSBP1,TSBP1-AS1c.1303A>G (p.Lys435Glu)
c.1306A>G (p.Lys436Glu)
c.1282A>G (p.Lys428Glu)
c.1309A>G (p.Lys437Glu)
c.1261A>G (p.Lys421Glu)
c.1294A>G (p.Lys432Glu)
c.1363A>G (p.Lys455Glu)
c.1342A>G (p.Lys448Glu)
c.1339A>G (p.Lys447Glu)
c.1321A>G (p.Lys441Glu)
c.1285A>G (p.Lys429Glu)
c.1264A>G (p.Lys422Glu)
c.421+30555T>C (n.421+30555T>C)
n.440+30555T>C
n.242+37950T>C
c.1027A>G (p.Lys343Glu)
c.1441A>G (p.Lys481Glu)
 dbSNP
6g.32293364T>GCA363561474TSBP1,TSBP1-AS1c.1303A>C (p.Lys435Gln)
c.1306A>C (p.Lys436Gln)
c.1282A>C (p.Lys428Gln)
c.1309A>C (p.Lys437Gln)
c.1261A>C (p.Lys421Gln)
c.1294A>C (p.Lys432Gln)
c.1363A>C (p.Lys455Gln)
c.1342A>C (p.Lys448Gln)
c.1339A>C (p.Lys447Gln)
c.1321A>C (p.Lys441Gln)
c.1285A>C (p.Lys429Gln)
c.1264A>C (p.Lys422Gln)
c.421+30555T>G (n.421+30555T>G)
n.440+30555T>G
n.242+37950T>G
c.1027A>C (p.Lys343Gln)
c.1441A>C (p.Lys481Gln)
6g.32293364T=CA1619500802TSBP1,TSBP1-AS1c.1303A= (p.Lys435=)
c.1306A= (p.Lys436=)
c.1282A= (p.Lys428=)
c.1309A= (p.Lys437=)
c.1261A= (p.Lys421=)
c.1294A= (p.Lys432=)
c.1363A= (p.Lys455=)
c.1342A= (p.Lys448=)
c.1339A= (p.Lys447=)
c.1321A= (p.Lys441=)
c.1285A= (p.Lys429=)
c.1264A= (p.Lys422=)
c.421+30555T= (n.421+30555T=)
n.440+30555T=
n.242+37950T=
c.1027A= (p.Lys343=)
c.1441A= (p.Lys481=)
6g.32293365T>ACA449829404TSBP1,TSBP1-AS1c.1302A>T (p.Pro434=)
c.1305A>T (p.Pro435=)
c.1281A>T (p.Pro427=)
c.1308A>T (p.Pro436=)
c.1260A>T (p.Pro420=)
c.1293A>T (p.Pro431=)
c.1362A>T (p.Pro454=)
c.1341A>T (p.Pro447=)
c.1338A>T (p.Pro446=)
c.1320A>T (p.Pro440=)
c.1284A>T (p.Pro428=)
c.1263A>T (p.Pro421=)
c.421+30556T>A (n.421+30556T>A)
n.440+30556T>A
n.242+37951T>A
c.1026A>T (p.Pro342=)
c.1440A>T (p.Pro480=)
6g.32293365T>CCA3740494TSBP1,TSBP1-AS1c.1302A>G (p.Pro434=)
c.1305A>G (p.Pro435=)
c.1281A>G (p.Pro427=)
c.1308A>G (p.Pro436=)
c.1260A>G (p.Pro420=)
c.1293A>G (p.Pro431=)
c.1362A>G (p.Pro454=)
c.1341A>G (p.Pro447=)
c.1338A>G (p.Pro446=)
c.1320A>G (p.Pro440=)
c.1284A>G (p.Pro428=)
c.1263A>G (p.Pro421=)
c.421+30556T>C (n.421+30556T>C)
n.440+30556T>C
n.242+37951T>C
c.1026A>G (p.Pro342=)
c.1440A>G (p.Pro480=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293365T>GCA449829408TSBP1,TSBP1-AS1c.1302A>C (p.Pro434=)
c.1305A>C (p.Pro435=)
c.1281A>C (p.Pro427=)
c.1308A>C (p.Pro436=)
c.1260A>C (p.Pro420=)
c.1293A>C (p.Pro431=)
c.1362A>C (p.Pro454=)
c.1341A>C (p.Pro447=)
c.1338A>C (p.Pro446=)
c.1320A>C (p.Pro440=)
c.1284A>C (p.Pro428=)
c.1263A>C (p.Pro421=)
c.421+30556T>G (n.421+30556T>G)
n.440+30556T>G
n.242+37951T>G
c.1026A>C (p.Pro342=)
c.1440A>C (p.Pro480=)
6g.32293365T=CA1619500803TSBP1,TSBP1-AS1c.1302A= (p.Pro434=)
c.1305A= (p.Pro435=)
c.1281A= (p.Pro427=)
c.1308A= (p.Pro436=)
c.1260A= (p.Pro420=)
c.1293A= (p.Pro431=)
c.1362A= (p.Pro454=)
c.1341A= (p.Pro447=)
c.1338A= (p.Pro446=)
c.1320A= (p.Pro440=)
c.1284A= (p.Pro428=)
c.1263A= (p.Pro421=)
c.421+30556T= (n.421+30556T=)
n.440+30556T=
n.242+37951T=
c.1026A= (p.Pro342=)
c.1440A= (p.Pro480=)
6g.32293366G>ACA363561475TSBP1,TSBP1-AS1c.1301C>T (p.Pro434Leu)
c.1304C>T (p.Pro435Leu)
c.1280C>T (p.Pro427Leu)
c.1307C>T (p.Pro436Leu)
c.1259C>T (p.Pro420Leu)
c.1292C>T (p.Pro431Leu)
c.1361C>T (p.Pro454Leu)
c.1340C>T (p.Pro447Leu)
c.1337C>T (p.Pro446Leu)
c.1319C>T (p.Pro440Leu)
c.1283C>T (p.Pro428Leu)
c.1262C>T (p.Pro421Leu)
c.421+30557G>A (n.421+30557G>A)
n.440+30557G>A
n.242+37952G>A
c.1025C>T (p.Pro342Leu)
c.1439C>T (p.Pro480Leu)
 gnomAD v4
6g.32293366G>CCA363561476TSBP1,TSBP1-AS1c.1301C>G (p.Pro434Arg)
c.1304C>G (p.Pro435Arg)
c.1280C>G (p.Pro427Arg)
c.1307C>G (p.Pro436Arg)
c.1259C>G (p.Pro420Arg)
c.1292C>G (p.Pro431Arg)
c.1361C>G (p.Pro454Arg)
c.1340C>G (p.Pro447Arg)
c.1337C>G (p.Pro446Arg)
c.1319C>G (p.Pro440Arg)
c.1283C>G (p.Pro428Arg)
c.1262C>G (p.Pro421Arg)
c.421+30557G>C (n.421+30557G>C)
n.440+30557G>C
n.242+37952G>C
c.1025C>G (p.Pro342Arg)
c.1439C>G (p.Pro480Arg)
6g.32293366G>TCA363561477TSBP1,TSBP1-AS1c.1301C>A (p.Pro434Gln)
c.1304C>A (p.Pro435Gln)
c.1280C>A (p.Pro427Gln)
c.1307C>A (p.Pro436Gln)
c.1259C>A (p.Pro420Gln)
c.1292C>A (p.Pro431Gln)
c.1361C>A (p.Pro454Gln)
c.1340C>A (p.Pro447Gln)
c.1337C>A (p.Pro446Gln)
c.1319C>A (p.Pro440Gln)
c.1283C>A (p.Pro428Gln)
c.1262C>A (p.Pro421Gln)
c.421+30557G>T (n.421+30557G>T)
n.440+30557G>T
n.242+37952G>T
c.1025C>A (p.Pro342Gln)
c.1439C>A (p.Pro480Gln)
6g.32293367G>ACA136929525TSBP1,TSBP1-AS1c.1300C>T (p.Pro434Ser)
c.1303C>T (p.Pro435Ser)
c.1279C>T (p.Pro427Ser)
c.1306C>T (p.Pro436Ser)
c.1258C>T (p.Pro420Ser)
c.1291C>T (p.Pro431Ser)
c.1360C>T (p.Pro454Ser)
c.1339C>T (p.Pro447Ser)
c.1336C>T (p.Pro446Ser)
c.1318C>T (p.Pro440Ser)
c.1282C>T (p.Pro428Ser)
c.1261C>T (p.Pro421Ser)
c.421+30558G>A (n.421+30558G>A)
n.440+30558G>A
n.242+37953G>A
c.1024C>T (p.Pro342Ser)
c.1438C>T (p.Pro480Ser)
 dbSNP
6g.32293367G>CCA363561479TSBP1,TSBP1-AS1c.1300C>G (p.Pro434Ala)
c.1303C>G (p.Pro435Ala)
c.1279C>G (p.Pro427Ala)
c.1306C>G (p.Pro436Ala)
c.1258C>G (p.Pro420Ala)
c.1291C>G (p.Pro431Ala)
c.1360C>G (p.Pro454Ala)
c.1339C>G (p.Pro447Ala)
c.1336C>G (p.Pro446Ala)
c.1318C>G (p.Pro440Ala)
c.1282C>G (p.Pro428Ala)
c.1261C>G (p.Pro421Ala)
c.421+30558G>C (n.421+30558G>C)
n.440+30558G>C
n.242+37953G>C
c.1024C>G (p.Pro342Ala)
c.1438C>G (p.Pro480Ala)
6g.32293367G=CA1619500804TSBP1,TSBP1-AS1c.1300C= (p.Pro434=)
c.1303C= (p.Pro435=)
c.1279C= (p.Pro427=)
c.1306C= (p.Pro436=)
c.1258C= (p.Pro420=)
c.1291C= (p.Pro431=)
c.1360C= (p.Pro454=)
c.1339C= (p.Pro447=)
c.1336C= (p.Pro446=)
c.1318C= (p.Pro440=)
c.1282C= (p.Pro428=)
c.1261C= (p.Pro421=)
c.421+30558G= (n.421+30558G=)
n.440+30558G=
n.242+37953G=
c.1024C= (p.Pro342=)
c.1438C= (p.Pro480=)
6g.32293367G>TCA363561478TSBP1,TSBP1-AS1c.1300C>A (p.Pro434Thr)
c.1303C>A (p.Pro435Thr)
c.1279C>A (p.Pro427Thr)
c.1306C>A (p.Pro436Thr)
c.1258C>A (p.Pro420Thr)
c.1291C>A (p.Pro431Thr)
c.1360C>A (p.Pro454Thr)
c.1339C>A (p.Pro447Thr)
c.1336C>A (p.Pro446Thr)
c.1318C>A (p.Pro440Thr)
c.1282C>A (p.Pro428Thr)
c.1261C>A (p.Pro421Thr)
c.421+30558G>T (n.421+30558G>T)
n.440+30558G>T
n.242+37953G>T
c.1024C>A (p.Pro342Thr)
c.1438C>A (p.Pro480Thr)
6g.32293368C>ACA449829414TSBP1,TSBP1-AS1c.1299G>T (p.Val433=)
c.1302G>T (p.Val434=)
c.1278G>T (p.Val426=)
c.1305G>T (p.Val435=)
c.1257G>T (p.Val419=)
c.1290G>T (p.Val430=)
c.1359G>T (p.Val453=)
c.1338G>T (p.Val446=)
c.1335G>T (p.Val445=)
c.1317G>T (p.Val439=)
c.1281G>T (p.Val427=)
c.1260G>T (p.Val420=)
c.421+30559C>A (n.421+30559C>A)
n.440+30559C>A
n.242+37954C>A
c.1023G>T (p.Val341=)
c.1437G>T (p.Val479=)
6g.32293368C>GCA449829411TSBP1,TSBP1-AS1c.1299G>C (p.Val433=)
c.1302G>C (p.Val434=)
c.1278G>C (p.Val426=)
c.1305G>C (p.Val435=)
c.1257G>C (p.Val419=)
c.1290G>C (p.Val430=)
c.1359G>C (p.Val453=)
c.1338G>C (p.Val446=)
c.1335G>C (p.Val445=)
c.1317G>C (p.Val439=)
c.1281G>C (p.Val427=)
c.1260G>C (p.Val420=)
c.421+30559C>G (n.421+30559C>G)
n.440+30559C>G
n.242+37954C>G
c.1023G>C (p.Val341=)
c.1437G>C (p.Val479=)
6g.32293368C>TCA449829413TSBP1,TSBP1-AS1c.1299G>A (p.Val433=)
c.1302G>A (p.Val434=)
c.1278G>A (p.Val426=)
c.1305G>A (p.Val435=)
c.1257G>A (p.Val419=)
c.1290G>A (p.Val430=)
c.1359G>A (p.Val453=)
c.1338G>A (p.Val446=)
c.1335G>A (p.Val445=)
c.1317G>A (p.Val439=)
c.1281G>A (p.Val427=)
c.1260G>A (p.Val420=)
c.421+30559C>T (n.421+30559C>T)
n.440+30559C>T
n.242+37954C>T
c.1023G>A (p.Val341=)
c.1437G>A (p.Val479=)
6g.32293369A=CA1619500805TSBP1,TSBP1-AS1c.1298T= (p.Val433=)
c.1301T= (p.Val434=)
c.1277T= (p.Val426=)
c.1304T= (p.Val435=)
c.1256T= (p.Val419=)
c.1289T= (p.Val430=)
c.1358T= (p.Val453=)
c.1337T= (p.Val446=)
c.1334T= (p.Val445=)
c.1316T= (p.Val439=)
c.1280T= (p.Val427=)
c.1259T= (p.Val420=)
c.421+30560A= (n.421+30560A=)
n.440+30560A=
n.242+37955A=
c.1022T= (p.Val341=)
c.1436T= (p.Val479=)
6g.32293369A>CCA363561480TSBP1,TSBP1-AS1c.1298T>G (p.Val433Gly)
c.1301T>G (p.Val434Gly)
c.1277T>G (p.Val426Gly)
c.1304T>G (p.Val435Gly)
c.1256T>G (p.Val419Gly)
c.1289T>G (p.Val430Gly)
c.1358T>G (p.Val453Gly)
c.1337T>G (p.Val446Gly)
c.1334T>G (p.Val445Gly)
c.1316T>G (p.Val439Gly)
c.1280T>G (p.Val427Gly)
c.1259T>G (p.Val420Gly)
c.421+30560A>C (n.421+30560A>C)
n.440+30560A>C
n.242+37955A>C
c.1022T>G (p.Val341Gly)
c.1436T>G (p.Val479Gly)
6g.32293369A>GCA3740496TSBP1,TSBP1-AS1c.1298T>C (p.Val433Ala)
c.1301T>C (p.Val434Ala)
c.1277T>C (p.Val426Ala)
c.1304T>C (p.Val435Ala)
c.1256T>C (p.Val419Ala)
c.1289T>C (p.Val430Ala)
c.1358T>C (p.Val453Ala)
c.1337T>C (p.Val446Ala)
c.1334T>C (p.Val445Ala)
c.1316T>C (p.Val439Ala)
c.1280T>C (p.Val427Ala)
c.1259T>C (p.Val420Ala)
c.421+30560A>G (n.421+30560A>G)
n.440+30560A>G
n.242+37955A>G
c.1022T>C (p.Val341Ala)
c.1436T>C (p.Val479Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32293369A>TCA3740495TSBP1,TSBP1-AS1c.1298T>A (p.Val433Glu)
c.1301T>A (p.Val434Glu)
c.1277T>A (p.Val426Glu)
c.1304T>A (p.Val435Glu)
c.1256T>A (p.Val419Glu)
c.1289T>A (p.Val430Glu)
c.1358T>A (p.Val453Glu)
c.1337T>A (p.Val446Glu)
c.1334T>A (p.Val445Glu)
c.1316T>A (p.Val439Glu)
c.1280T>A (p.Val427Glu)
c.1259T>A (p.Val420Glu)
c.421+30560A>T (n.421+30560A>T)
n.440+30560A>T
n.242+37955A>T
c.1022T>A (p.Val341Glu)
c.1436T>A (p.Val479Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32293370C>ACA363561481TSBP1,TSBP1-AS1c.1297G>T (p.Val433Leu)
c.1300G>T (p.Val434Leu)
c.1276G>T (p.Val426Leu)
c.1303G>T (p.Val435Leu)
c.1255G>T (p.Val419Leu)
c.1288G>T (p.Val430Leu)
c.1357G>T (p.Val453Leu)
c.1336G>T (p.Val446Leu)
c.1333G>T (p.Val445Leu)
c.1315G>T (p.Val439Leu)
c.1279G>T (p.Val427Leu)
c.1258G>T (p.Val420Leu)
c.421+30561C>A (n.421+30561C>A)
n.440+30561C>A
n.242+37956C>A
c.1021G>T (p.Val341Leu)
c.1435G>T (p.Val479Leu)
 dbSNP
6g.32293370C=CA1619500806TSBP1,TSBP1-AS1c.1297G= (p.Val433=)
c.1300G= (p.Val434=)
c.1276G= (p.Val426=)
c.1303G= (p.Val435=)
c.1255G= (p.Val419=)
c.1288G= (p.Val430=)
c.1357G= (p.Val453=)
c.1336G= (p.Val446=)
c.1333G= (p.Val445=)
c.1315G= (p.Val439=)
c.1279G= (p.Val427=)
c.1258G= (p.Val420=)
c.421+30561C= (n.421+30561C=)
n.440+30561C=
n.242+37956C=
c.1021G= (p.Val341=)
c.1435G= (p.Val479=)
6g.32293370C>GCA363561482TSBP1,TSBP1-AS1c.1297G>C (p.Val433Leu)
c.1300G>C (p.Val434Leu)
c.1276G>C (p.Val426Leu)
c.1303G>C (p.Val435Leu)
c.1255G>C (p.Val419Leu)
c.1288G>C (p.Val430Leu)
c.1357G>C (p.Val453Leu)
c.1336G>C (p.Val446Leu)
c.1333G>C (p.Val445Leu)
c.1315G>C (p.Val439Leu)
c.1279G>C (p.Val427Leu)
c.1258G>C (p.Val420Leu)
c.421+30561C>G (n.421+30561C>G)
n.440+30561C>G
n.242+37956C>G
c.1021G>C (p.Val341Leu)
c.1435G>C (p.Val479Leu)
6g.32293370C>TCA3740497TSBP1,TSBP1-AS1c.1297G>A (p.Val433Met)
c.1300G>A (p.Val434Met)
c.1276G>A (p.Val426Met)
c.1303G>A (p.Val435Met)
c.1255G>A (p.Val419Met)
c.1288G>A (p.Val430Met)
c.1357G>A (p.Val453Met)
c.1336G>A (p.Val446Met)
c.1333G>A (p.Val445Met)
c.1315G>A (p.Val439Met)
c.1279G>A (p.Val427Met)
c.1258G>A (p.Val420Met)
c.421+30561C>T (n.421+30561C>T)
n.440+30561C>T
n.242+37956C>T
c.1021G>A (p.Val341Met)
c.1435G>A (p.Val479Met)
 dbSNP ExAC gnomAD v2
6g.32293371A=CA1619500807TSBP1,TSBP1-AS1c.1296T= (p.Asp432=)
c.1299T= (p.Asp433=)
c.1275T= (p.Asp425=)
c.1302T= (p.Asp434=)
c.1254T= (p.Asp418=)
c.1287T= (p.Asp429=)
c.1356T= (p.Asp452=)
c.1335T= (p.Asp445=)
c.1332T= (p.Asp444=)
c.1314T= (p.Asp438=)
c.1278T= (p.Asp426=)
c.1257T= (p.Asp419=)
c.421+30562A= (n.421+30562A=)
n.440+30562A=
n.242+37957A=
c.1020T= (p.Asp340=)
c.1434T= (p.Asp478=)
6g.32293371A>CCA363561484TSBP1,TSBP1-AS1c.1296T>G (p.Asp432Glu)
c.1299T>G (p.Asp433Glu)
c.1275T>G (p.Asp425Glu)
c.1302T>G (p.Asp434Glu)
c.1254T>G (p.Asp418Glu)
c.1287T>G (p.Asp429Glu)
c.1356T>G (p.Asp452Glu)
c.1335T>G (p.Asp445Glu)
c.1332T>G (p.Asp444Glu)
c.1314T>G (p.Asp438Glu)
c.1278T>G (p.Asp426Glu)
c.1257T>G (p.Asp419Glu)
c.421+30562A>C (n.421+30562A>C)
n.440+30562A>C
n.242+37957A>C
c.1020T>G (p.Asp340Glu)
c.1434T>G (p.Asp478Glu)
6g.32293371A>GCA3740498TSBP1,TSBP1-AS1c.1296T>C (p.Asp432=)
c.1299T>C (p.Asp433=)
c.1275T>C (p.Asp425=)
c.1302T>C (p.Asp434=)
c.1254T>C (p.Asp418=)
c.1287T>C (p.Asp429=)
c.1356T>C (p.Asp452=)
c.1335T>C (p.Asp445=)
c.1332T>C (p.Asp444=)
c.1314T>C (p.Asp438=)
c.1278T>C (p.Asp426=)
c.1257T>C (p.Asp419=)
c.421+30562A>G (n.421+30562A>G)
n.440+30562A>G
n.242+37957A>G
c.1020T>C (p.Asp340=)
c.1434T>C (p.Asp478=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32293371A>TCA363561483TSBP1,TSBP1-AS1c.1296T>A (p.Asp432Glu)
c.1299T>A (p.Asp433Glu)
c.1275T>A (p.Asp425Glu)
c.1302T>A (p.Asp434Glu)
c.1254T>A (p.Asp418Glu)
c.1287T>A (p.Asp429Glu)
c.1356T>A (p.Asp452Glu)
c.1335T>A (p.Asp445Glu)
c.1332T>A (p.Asp444Glu)
c.1314T>A (p.Asp438Glu)
c.1278T>A (p.Asp426Glu)
c.1257T>A (p.Asp419Glu)
c.421+30562A>T (n.421+30562A>T)
n.440+30562A>T
n.242+37957A>T
c.1020T>A (p.Asp340Glu)
c.1434T>A (p.Asp478Glu)
6g.32293372T>ACA363561485TSBP1,TSBP1-AS1c.1295A>T (p.Asp432Val)
c.1298A>T (p.Asp433Val)
c.1274A>T (p.Asp425Val)
c.1301A>T (p.Asp434Val)
c.1253A>T (p.Asp418Val)
c.1286A>T (p.Asp429Val)
c.1355A>T (p.Asp452Val)
c.1334A>T (p.Asp445Val)
c.1331A>T (p.Asp444Val)
c.1313A>T (p.Asp438Val)
c.1277A>T (p.Asp426Val)
c.1256A>T (p.Asp419Val)
c.421+30563T>A (n.421+30563T>A)
n.440+30563T>A
n.242+37958T>A
c.1019A>T (p.Asp340Val)
c.1433A>T (p.Asp478Val)
6g.32293372T>CCA363561486TSBP1,TSBP1-AS1c.1295A>G (p.Asp432Gly)
c.1298A>G (p.Asp433Gly)
c.1274A>G (p.Asp425Gly)
c.1301A>G (p.Asp434Gly)
c.1253A>G (p.Asp418Gly)
c.1286A>G (p.Asp429Gly)
c.1355A>G (p.Asp452Gly)
c.1334A>G (p.Asp445Gly)
c.1331A>G (p.Asp444Gly)
c.1313A>G (p.Asp438Gly)
c.1277A>G (p.Asp426Gly)
c.1256A>G (p.Asp419Gly)
c.421+30563T>C (n.421+30563T>C)
n.440+30563T>C
n.242+37958T>C
c.1019A>G (p.Asp340Gly)
c.1433A>G (p.Asp478Gly)
 gnomAD v4
6g.32293372T>GCA363561487TSBP1,TSBP1-AS1c.1295A>C (p.Asp432Ala)
c.1298A>C (p.Asp433Ala)
c.1274A>C (p.Asp425Ala)
c.1301A>C (p.Asp434Ala)
c.1253A>C (p.Asp418Ala)
c.1286A>C (p.Asp429Ala)
c.1355A>C (p.Asp452Ala)
c.1334A>C (p.Asp445Ala)
c.1331A>C (p.Asp444Ala)
c.1313A>C (p.Asp438Ala)
c.1277A>C (p.Asp426Ala)
c.1256A>C (p.Asp419Ala)
c.421+30563T>G (n.421+30563T>G)
n.440+30563T>G
n.242+37958T>G
c.1019A>C (p.Asp340Ala)
c.1433A>C (p.Asp478Ala)
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.32293373C>ACA363561488TSBP1,TSBP1-AS1c.1294G>T (p.Asp432Tyr)
c.1297G>T (p.Asp433Tyr)
c.1273G>T (p.Asp425Tyr)
c.1300G>T (p.Asp434Tyr)
c.1252G>T (p.Asp418Tyr)
c.1285G>T (p.Asp429Tyr)
c.1354G>T (p.Asp452Tyr)
c.1333G>T (p.Asp445Tyr)
c.1330G>T (p.Asp444Tyr)
c.1312G>T (p.Asp438Tyr)
c.1276G>T (p.Asp426Tyr)
c.1255G>T (p.Asp419Tyr)
c.421+30564C>A (n.421+30564C>A)
n.440+30564C>A
n.242+37959C>A
c.1018G>T (p.Asp340Tyr)
c.1432G>T (p.Asp478Tyr)
6g.32293373C>GCA363561489TSBP1,TSBP1-AS1c.1294G>C (p.Asp432His)
c.1297G>C (p.Asp433His)
c.1273G>C (p.Asp425His)
c.1300G>C (p.Asp434His)
c.1252G>C (p.Asp418His)
c.1285G>C (p.Asp429His)
c.1354G>C (p.Asp452His)
c.1333G>C (p.Asp445His)
c.1330G>C (p.Asp444His)
c.1312G>C (p.Asp438His)
c.1276G>C (p.Asp426His)
c.1255G>C (p.Asp419His)
c.421+30564C>G (n.421+30564C>G)
n.440+30564C>G
n.242+37959C>G
c.1018G>C (p.Asp340His)
c.1432G>C (p.Asp478His)
6g.32293373C>TCA363561490TSBP1,TSBP1-AS1c.1294G>A (p.Asp432Asn)
c.1297G>A (p.Asp433Asn)
c.1273G>A (p.Asp425Asn)
c.1300G>A (p.Asp434Asn)
c.1252G>A (p.Asp418Asn)
c.1285G>A (p.Asp429Asn)
c.1354G>A (p.Asp452Asn)
c.1333G>A (p.Asp445Asn)
c.1330G>A (p.Asp444Asn)
c.1312G>A (p.Asp438Asn)
c.1276G>A (p.Asp426Asn)
c.1255G>A (p.Asp419Asn)
c.421+30564C>T (n.421+30564C>T)
n.440+30564C>T
n.242+37959C>T
c.1018G>A (p.Asp340Asn)
c.1432G>A (p.Asp478Asn)
6g.32293374T>ACA449829427TSBP1,TSBP1-AS1c.1293A>T (p.Ala431=)
c.1296A>T (p.Ala432=)
c.1272A>T (p.Ala424=)
c.1299A>T (p.Ala433=)
c.1251A>T (p.Ala417=)
c.1284A>T (p.Ala428=)
c.1353A>T (p.Ala451=)
c.1332A>T (p.Ala444=)
c.1329A>T (p.Ala443=)
c.1311A>T (p.Ala437=)
c.1275A>T (p.Ala425=)
c.1254A>T (p.Ala418=)
c.421+30565T>A (n.421+30565T>A)
n.440+30565T>A
n.242+37960T>A
c.1017A>T (p.Ala339=)
c.1431A>T (p.Ala477=)
6g.32293374T>CCA449829424TSBP1,TSBP1-AS1c.1293A>G (p.Ala431=)
c.1296A>G (p.Ala432=)
c.1272A>G (p.Ala424=)
c.1299A>G (p.Ala433=)
c.1251A>G (p.Ala417=)
c.1284A>G (p.Ala428=)
c.1353A>G (p.Ala451=)
c.1332A>G (p.Ala444=)
c.1329A>G (p.Ala443=)
c.1311A>G (p.Ala437=)
c.1275A>G (p.Ala425=)
c.1254A>G (p.Ala418=)
c.421+30565T>C (n.421+30565T>C)
n.440+30565T>C
n.242+37960T>C
c.1017A>G (p.Ala339=)
c.1431A>G (p.Ala477=)
6g.32293374T>GCA449829425TSBP1,TSBP1-AS1c.1293A>C (p.Ala431=)
c.1296A>C (p.Ala432=)
c.1272A>C (p.Ala424=)
c.1299A>C (p.Ala433=)
c.1251A>C (p.Ala417=)
c.1284A>C (p.Ala428=)
c.1353A>C (p.Ala451=)
c.1332A>C (p.Ala444=)
c.1329A>C (p.Ala443=)
c.1311A>C (p.Ala437=)
c.1275A>C (p.Ala425=)
c.1254A>C (p.Ala418=)
c.421+30565T>G (n.421+30565T>G)
n.440+30565T>G
n.242+37960T>G
c.1017A>C (p.Ala339=)
c.1431A>C (p.Ala477=)
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=)

Number of alleles fetched