Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.32293230_32293319del | CA2678139190 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293241_32293330del | CA2678139191 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293285A>C | CA363561296 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293285A>G | CA363561295 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293285A>T | CA363561294 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293286C>A | CA3740481 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293286C= | CA1619500775 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293286C>G | CA363561297 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293286C>T | CA3740482 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293287C>A | CA3740483 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293287C= | CA1619500776 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293287C>G | CA363561298 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293287C>T | CA449829683 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293288T>A | CA363561301 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293288T>C | CA363561300 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293288T>G | CA363561299 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293289C>A | CA363561302 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293289C>G | CA363561303 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293289C>T | CA363561304 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293290A>C | CA449829685 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293290A>G | CA449829686 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293290A>T | CA449829687 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293291G>A | CA3740484 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293291G>C | CA363561305 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293291G= | CA1619500777 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293291G>T | CA363561306 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293292T>A | CA363561307 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293292T>C | CA363561309 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293292T>G | CA363561308 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293293G>A | CA449829691 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293293G>C | CA363561310 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293293G= | CA1619500779 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293293G>T | CA363561311 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293293_32293296delinsGTTC | CA1619500778 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293294T>A | CA363561312 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293294T>C | CA363561313 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293294T>G | CA363561314 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293296_32293298del | CA566696644 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293295T>A | CA363561315 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293295T>C | CA363561316 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293295T>G | CA363561317 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293296C>A | CA363561318 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293296C>G | CA363561319 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293296C>T | CA449829696 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293297T>A | CA363561322 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293297T>C | CA363561321 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293297T>G | CA363561320 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293298T>A | CA363561323 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293298T>C | CA136929515 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293298T>G | CA363561324 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293298T= | CA1619500780 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293299T>A | CA449829700 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293299T>C | CA449829699 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293299T>G | CA449829701 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293300A>C | CA363561325 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293300A>G | CA363561326 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293300A>T | CA363561327 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293301C>A | CA363561328 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293301C= | CA1619500781 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293301C>G | CA363561329 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293301C>T | CA363561330 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293302T>A | CA363561331 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293302T>C | CA449829703 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293302T>G | CA363561332 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293303T>A | CA363561333 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293303T>C | CA363561334 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293303T>G | CA363561335 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293304G>A | CA3740485 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293304G>C | CA363561336 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293304G= | CA1619500782 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293304G>T | CA363561337 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293305G>A | CA449829706 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293305G>C | CA449829707 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293305G>T | CA449829708 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293306G>A | CA363561338 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293306G>C | CA363561339 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293306G>T | CA363561340 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293307A>C | CA363561341 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293307A>G | CA363561342 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293307A>T | CA363561343 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293307_32293308insG | CA2695206200 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293308T>A | CA363561344 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293308T>C | CA449829712 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293308T>G | CA363561345 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293309T>A | CA363561346 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293309T>C | CA363561347 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293309T>G | CA363561348 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293310C>A | CA363561350 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293310C>G | CA363561351 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293310C>T | CA363561349 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293311T>A | CA449829714 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293311T>C | CA449829715 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293311T>G | CA449829716 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293312G>A | CA3740486 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293312G>C | CA363561352 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293312G= | CA1619500783 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293312G>T | CA363561353 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293313G>A | CA363561354 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293313G>C | CA363561355 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293313G= | CA1619500784 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293313G>T | CA363561356 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293314T>A | CA449829720 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293314T>C | CA449829721 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293314T>G | CA449829719 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293315C>A | CA363561359 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293315C>G | CA363561357 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293315C>T | CA363561358 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293316C>A | CA363561360 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293316C>G | CA363561361 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293316C>T | CA363561362 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293317T>A | CA363561363 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293317T>C | CA449829724 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293317T>G | CA363561364 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293318T>A | CA363561365 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293318T>C | CA363561367 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293318T>G | CA363561366 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293319T>A | CA363561368 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293319T>C | CA363561369 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293319T>G | CA363561370 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293320C>A | CA449829727 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293320C>G | CA449829728 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293320C>T | CA449829726 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293321A= | CA1619500785 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293321A>C | CA363561371 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293321A>G | CA363561372 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293321A>T | CA363561373 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293322G>A | CA3740487 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293322G>C | CA363561374 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293322G= | CA1619500786 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293322G>T | CA363561375 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293323T>A | CA449829730 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293323T>C | CA449829731 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293323T>G | CA449829732 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293324A>C | CA363561376 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293324A>G | CA363561377 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293324A>T | CA363561378 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293325C>A | CA363561381 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293325C= | CA1619500787 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293325C>G | CA363561380 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293325C>T | CA363561379 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293326A= | CA1619500788 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293326A>C | CA3740488 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293326A>G | CA449829321 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293326A>T | CA449829322 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293327C>A | CA363561383 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293327C>G | CA363561382 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293327C>T | CA363561384 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293328C>A | CA363561385 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293328C= | CA1619500789 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293328C>G | CA363561386 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293328C>T | CA3740489 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293329T>A | CA449829327 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293329T>C | CA449829328 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293329T>G | CA449829330 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293330G>A | CA363561387 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293330G>C | CA136929520 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293330G= | CA1619500790 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293330G>T | CA363561388 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293331C>A | CA363561390 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293331C= | CA1619500791 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293331C>G | CA363561389 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293331C>T | CA136929521 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293332C>A | CA363561391 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293332C>G | CA363561392 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293332C>T | CA449829336 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293333T>A | CA363561393 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293333T>C | CA363561394 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293333T>G | CA363561395 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293334C>A | CA363561396 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293334C>G | CA363561398 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293334C>T | CA363561397 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293335A>C | CA363561399 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293335A>G | CA449829342 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293335A>T | CA363561400 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293336C>A | CA363561401 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293336C= | CA1619500793 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293336C>G | CA363561402 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293336C>T | CA363561403 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293336_32293339delinsCTCT | CA1619500792 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293337T>A | CA363561404 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293337T>C | CA363561405 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293337T>G | CA363561406 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293341_32293343del | CA3740490 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293338C>A | CA363561407 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293338C>G | CA363561408 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293338C>T | CA449829345 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293338_32293343delinsCTTCTT | CA1619500794 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293339T>A | CA363561409 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293339T>C | CA3740491 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293339T>G | CA363561410 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293339T= | CA1619500796 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293344_32293348del | CA1619500795 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293340T>A | CA363561411 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293340T>C | CA363561412 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293340T>G | CA363561413 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293340T= | CA1619500797 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293341C>A | CA363561414 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293341C>G | CA363561415 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293341C>T | CA449829353 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293342T>A | CA363561416 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293342T>C | CA363561417 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293342T>G | CA363561418 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293343T>A | CA363561419 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293343T>C | CA363561420 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293343T>G | CA363561421 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293344T>A | CA363561423 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293344T>C | CA449829361 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293344T>G | CA363561422 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293345T>A | CA363561424 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293345T>C | CA363561425 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293345T>G | CA363561426 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293346C>A | CA363561427 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293346C>G | CA363561428 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293346C>T | CA363561429 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293347T>A | CA363561430 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293347T>C | CA3740492 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293347T>G | CA363561431 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293347T= | CA1619500798 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293348T>A | CA363561432 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293348T>C | CA363561433 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293348T>G | CA363561434 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293348T= | CA1619500799 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293349G>A | CA363561436 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293349G>C | CA363561437 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293349G>T | CA363561435 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293350G>A | CA449829370 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293350G>C | CA449829371 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293350G>T | CA449829373 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293351A= | CA1619500800 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293351A>C | CA363561439 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293351A>G | CA3740493 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293351A>T | CA363561438 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293352C>A | CA363561440 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293352C= | CA1619500801 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293352C>G | CA363561441 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293352C>T | CA363561442 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293353C>A | CA363561443 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293353C>G | CA363561444 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293353C>T | CA449829381 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293354T>A | CA363561445 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293354T>C | CA363561446 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293354T>G | CA363561447 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293355C>A | CA363561448 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293355C>G | CA363561449 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293355C>T | CA363561450 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293356T>A | CA363561451 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293356T>C | CA449829385 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293356T>G | CA363561452 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293357T>A | CA363561453 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293357T>C | CA363561454 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293357T>G | CA363561455 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293358G>A | CA363561456 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293358G>C | CA363561457 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293358G>T | CA363561458 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293359T>A | CA363561459 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293359T>C | CA449829391 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293359T>G | CA363561460 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293360T>A | CA363561461 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293360T>C | CA363561462 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293360T>G | CA363561463 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293361C>A | CA363561465 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293361C>G | CA363561466 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293361C>T | CA363561464 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293362C>A | CA363561467 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293362C>G | CA363561468 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293362C>T | CA449829399 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293363T>A | CA363561469 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293363T>C | CA363561470 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293363T>G | CA363561471 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293364T>A | CA363561472 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293364T>C | CA363561473 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293364T>G | CA363561474 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293364T= | CA1619500802 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293365T>A | CA449829404 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293365T>C | CA3740494 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293365T>G | CA449829408 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293365T= | CA1619500803 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293366G>A | CA363561475 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293366G>C | CA363561476 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293366G>T | CA363561477 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293367G>A | CA136929525 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293367G>C | CA363561479 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293367G= | CA1619500804 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293367G>T | CA363561478 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293368C>A | CA449829414 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293368C>G | CA449829411 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293368C>T | CA449829413 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293369A= | CA1619500805 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293369A>C | CA363561480 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293369A>G | CA3740496 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293369A>T | CA3740495 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293370C>A | CA363561481 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293370C= | CA1619500806 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293370C>G | CA363561482 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293370C>T | CA3740497 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293371A= | CA1619500807 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293371A>C | CA363561484 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293371A>G | CA3740498 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293371A>T | CA363561483 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293372T>A | CA363561485 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293372T>C | CA363561486 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293372T>G | CA363561487 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293372_32293375del | CA2678139196 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293373C>A | CA363561488 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293373C>G | CA363561489 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293373C>T | CA363561490 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293374T>A | CA449829427 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293374T>C | CA449829424 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293374T>G | CA449829425 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293375G>A | CA363561492 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293375G>C | CA363561493 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293375G= | CA1619500808 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293375G>T | CA363561491 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293376C>A | CA363561495 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293376C= | CA1619500809 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293376C>G | CA363561494 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293376C>T | CA3740499 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293377C>A | CA363561496 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293377C>G | CA363561497 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293377C>T | CA449829429 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293378T>A | CA363561498 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293378T>C | CA363561499 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293378T>G | CA363561500 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293378_32293418del | CA2678139197 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293379C>A | CA363561501 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293379C>G | CA363561502 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293379C>T | CA363561503 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293380A>C | CA449829432 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293380A>G | CA449829433 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293380A>T | CA449829436 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293381G>A | CA363561504 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293381G>C | CA3740500 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293381G= | CA1619500810 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293381G>T | CA363561505 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293382T>A | CA363561506 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293382T>C | CA363561507 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293382T>G | CA363561508 | TSBP1,TSBP1-AS1 | c.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) | |
6 | g.32293382T= | CA1619500811 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293383C>A | CA3740501 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293383C= | CA1619500812 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293383C>G | CA363561509 | TSBP1,TSBP1-AS1 | c.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 |
6 | g.32293383C>T | CA449829443 | TSBP1,TSBP1-AS1 | c.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=) | |
6 | g.32293384T>A | CA363561510 | TSBP1,TSBP1-AS1 | c.1283A>T (p.Lys428Met) c.1286A>T (p.Lys429Met) c.1262A>T (p.Lys421Met) c.1289A>T (p.Lys430Met) c.1241A>T (p.Lys414Met) c.1274A>T (p.Lys425Met) c.1343A>T (p.Lys448Met) c.1322A>T (p.Lys441Met) c.1319A>T (p.Lys440Met) c.1301A>T (p.Lys434Met) c.1265A>T (p.Lys422Met) c.1244A>T (p.Lys415Met) c.421+30575T>A (n.421+30575T>A) n.440+30575T>A n.242+37970T>A c.1007A>T (p.Lys336Met) c.1421A>T (p.Lys474Met) | |
6 | g.32293384T>C | CA363561511 | TSBP1,TSBP1-AS1 | c.1283A>G (p.Lys428Arg) c.1286A>G (p.Lys429Arg) c.1262A>G (p.Lys421Arg) c.1289A>G (p.Lys430Arg) c.1241A>G (p.Lys414Arg) c.1274A>G (p.Lys425Arg) c.1343A>G (p.Lys448Arg) c.1322A>G (p.Lys441Arg) c.1319A>G (p.Lys440Arg) c.1301A>G (p.Lys434Arg) c.1265A>G (p.Lys422Arg) c.1244A>G (p.Lys415Arg) c.421+30575T>C (n.421+30575T>C) n.440+30575T>C n.242+37970T>C c.1007A>G (p.Lys336Arg) c.1421A>G (p.Lys474Arg) | |
6 | g.32293384T>G | CA363561512 | TSBP1,TSBP1-AS1 | c.1283A>C (p.Lys428Thr) c.1286A>C (p.Lys429Thr) c.1262A>C (p.Lys421Thr) c.1289A>C (p.Lys430Thr) c.1241A>C (p.Lys414Thr) c.1274A>C (p.Lys425Thr) c.1343A>C (p.Lys448Thr) c.1322A>C (p.Lys441Thr) c.1319A>C (p.Lys440Thr) c.1301A>C (p.Lys434Thr) c.1265A>C (p.Lys422Thr) c.1244A>C (p.Lys415Thr) c.421+30575T>G (n.421+30575T>G) n.440+30575T>G n.242+37970T>G c.1007A>C (p.Lys336Thr) c.1421A>C (p.Lys474Thr) | |
6 | g.32293384_32293385insG | CA2578577724 | TSBP1,TSBP1-AS1 | c.1282_1283insC (p.Lys428ThrfsTer3) c.1285_1286insC (p.Lys429ThrfsTer3) c.1261_1262insC (p.Lys421ThrfsTer3) c.1288_1289insC (p.Lys430ThrfsTer3) c.1240_1241insC (p.Lys414ThrfsTer3) c.1273_1274insC (p.Lys425ThrfsTer3) c.1342_1343insC (p.Lys448ThrfsTer3) c.1321_1322insC (p.Lys441ThrfsTer3) c.1318_1319insC (p.Lys440ThrfsTer3) c.1300_1301insC (p.Lys434ThrfsTer3) c.1264_1265insC (p.Lys422ThrfsTer3) c.1243_1244insC (p.Lys415ThrfsTer3) c.421+30575_421+30576insG (n.421+30575_421+30576insG) n.440+30575_440+30576insG n.242+37970_242+37971insG c.1006_1007insC (p.Lys336ThrfsTer3) c.1420_1421insC (p.Lys474ThrfsTer3) | |
6 | g.32293385T>A | CA363561513 | TSBP1,TSBP1-AS1 | c.1282A>T (p.Lys428Ter) c.1285A>T (p.Lys429Ter) c.1261A>T (p.Lys421Ter) c.1288A>T (p.Lys430Ter) c.1240A>T (p.Lys414Ter) c.1273A>T (p.Lys425Ter) c.1342A>T (p.Lys448Ter) c.1321A>T (p.Lys441Ter) c.1318A>T (p.Lys440Ter) c.1300A>T (p.Lys434Ter) c.1264A>T (p.Lys422Ter) c.1243A>T (p.Lys415Ter) c.421+30576T>A (n.421+30576T>A) n.440+30576T>A n.242+37971T>A c.1006A>T (p.Lys336Ter) c.1420A>T (p.Lys474Ter) | |
6 | g.32293385T>C | CA363561514 | TSBP1,TSBP1-AS1 | c.1282A>G (p.Lys428Glu) c.1285A>G (p.Lys429Glu) c.1261A>G (p.Lys421Glu) c.1288A>G (p.Lys430Glu) c.1240A>G (p.Lys414Glu) c.1273A>G (p.Lys425Glu) c.1342A>G (p.Lys448Glu) c.1321A>G (p.Lys441Glu) c.1318A>G (p.Lys440Glu) c.1300A>G (p.Lys434Glu) c.1264A>G (p.Lys422Glu) c.1243A>G (p.Lys415Glu) c.421+30576T>C (n.421+30576T>C) n.440+30576T>C n.242+37971T>C c.1006A>G (p.Lys336Glu) c.1420A>G (p.Lys474Glu) | |
6 | g.32293385T>G | CA363561515 | TSBP1,TSBP1-AS1 | c.1282A>C (p.Lys428Gln) c.1285A>C (p.Lys429Gln) c.1261A>C (p.Lys421Gln) c.1288A>C (p.Lys430Gln) c.1240A>C (p.Lys414Gln) c.1273A>C (p.Lys425Gln) c.1342A>C (p.Lys448Gln) c.1321A>C (p.Lys441Gln) c.1318A>C (p.Lys440Gln) c.1300A>C (p.Lys434Gln) c.1264A>C (p.Lys422Gln) c.1243A>C (p.Lys415Gln) c.421+30576T>G (n.421+30576T>G) n.440+30576T>G n.242+37971T>G c.1006A>C (p.Lys336Gln) c.1420A>C (p.Lys474Gln) |