Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.32293387T>A | CA363561518 | TSBP1,TSBP1-AS1 | c.1280A>T (p.Glu427Val) c.1283A>T (p.Glu428Val) c.1259A>T (p.Glu420Val) c.1286A>T (p.Glu429Val) c.1238A>T (p.Glu413Val) c.1271A>T (p.Glu424Val) c.1340A>T (p.Glu447Val) c.1319A>T (p.Glu440Val) c.1316A>T (p.Glu439Val) c.1298A>T (p.Glu433Val) c.1262A>T (p.Glu421Val) c.1241A>T (p.Glu414Val) c.421+30578T>A (n.421+30578T>A) n.440+30578T>A n.242+37973T>A c.1004A>T (p.Glu335Val) c.1418A>T (p.Glu473Val) | |
6 | g.32293387T>C | CA363561519 | TSBP1,TSBP1-AS1 | c.1280A>G (p.Glu427Gly) c.1283A>G (p.Glu428Gly) c.1259A>G (p.Glu420Gly) c.1286A>G (p.Glu429Gly) c.1238A>G (p.Glu413Gly) c.1271A>G (p.Glu424Gly) c.1340A>G (p.Glu447Gly) c.1319A>G (p.Glu440Gly) c.1316A>G (p.Glu439Gly) c.1298A>G (p.Glu433Gly) c.1262A>G (p.Glu421Gly) c.1241A>G (p.Glu414Gly) c.421+30578T>C (n.421+30578T>C) n.440+30578T>C n.242+37973T>C c.1004A>G (p.Glu335Gly) c.1418A>G (p.Glu473Gly) | |
6 | g.32293387T>G | CA363561520 | TSBP1,TSBP1-AS1 | c.1280A>C (p.Glu427Ala) c.1283A>C (p.Glu428Ala) c.1259A>C (p.Glu420Ala) c.1286A>C (p.Glu429Ala) c.1238A>C (p.Glu413Ala) c.1271A>C (p.Glu424Ala) c.1340A>C (p.Glu447Ala) c.1319A>C (p.Glu440Ala) c.1316A>C (p.Glu439Ala) c.1298A>C (p.Glu433Ala) c.1262A>C (p.Glu421Ala) c.1241A>C (p.Glu414Ala) c.421+30578T>G (n.421+30578T>G) n.440+30578T>G n.242+37973T>G c.1004A>C (p.Glu335Ala) c.1418A>C (p.Glu473Ala) | |
6 | g.32293388C>A | CA363561523 | TSBP1,TSBP1-AS1 | c.1279G>T (p.Glu427Ter) c.1282G>T (p.Glu428Ter) c.1258G>T (p.Glu420Ter) c.1285G>T (p.Glu429Ter) c.1237G>T (p.Glu413Ter) c.1270G>T (p.Glu424Ter) c.1339G>T (p.Glu447Ter) c.1318G>T (p.Glu440Ter) c.1315G>T (p.Glu439Ter) c.1297G>T (p.Glu433Ter) c.1261G>T (p.Glu421Ter) c.1240G>T (p.Glu414Ter) c.421+30579C>A (n.421+30579C>A) n.440+30579C>A n.242+37974C>A c.1003G>T (p.Glu335Ter) c.1417G>T (p.Glu473Ter) | gnomAD v4 |
6 | g.32293388C>G | CA363561522 | TSBP1,TSBP1-AS1 | c.1279G>C (p.Glu427Gln) c.1282G>C (p.Glu428Gln) c.1258G>C (p.Glu420Gln) c.1285G>C (p.Glu429Gln) c.1237G>C (p.Glu413Gln) c.1270G>C (p.Glu424Gln) c.1339G>C (p.Glu447Gln) c.1318G>C (p.Glu440Gln) c.1315G>C (p.Glu439Gln) c.1297G>C (p.Glu433Gln) c.1261G>C (p.Glu421Gln) c.1240G>C (p.Glu414Gln) c.421+30579C>G (n.421+30579C>G) n.440+30579C>G n.242+37974C>G c.1003G>C (p.Glu335Gln) c.1417G>C (p.Glu473Gln) | |
6 | g.32293388C>T | CA363561521 | TSBP1,TSBP1-AS1 | c.1279G>A (p.Glu427Lys) c.1282G>A (p.Glu428Lys) c.1258G>A (p.Glu420Lys) c.1285G>A (p.Glu429Lys) c.1237G>A (p.Glu413Lys) c.1270G>A (p.Glu424Lys) c.1339G>A (p.Glu447Lys) c.1318G>A (p.Glu440Lys) c.1315G>A (p.Glu439Lys) c.1297G>A (p.Glu433Lys) c.1261G>A (p.Glu421Lys) c.1240G>A (p.Glu414Lys) c.421+30579C>T (n.421+30579C>T) n.440+30579C>T n.242+37974C>T c.1003G>A (p.Glu335Lys) c.1417G>A (p.Glu473Lys) | gnomAD v4 |
6 | g.32293389T>A | CA449829456 | TSBP1,TSBP1-AS1 | c.1278A>T (p.Val426=) c.1281A>T (p.Val427=) c.1257A>T (p.Val419=) c.1284A>T (p.Val428=) c.1236A>T (p.Val412=) c.1269A>T (p.Val423=) c.1338A>T (p.Val446=) c.1317A>T (p.Val439=) c.1314A>T (p.Val438=) c.1296A>T (p.Val432=) c.1260A>T (p.Val420=) c.1239A>T (p.Val413=) c.421+30580T>A (n.421+30580T>A) n.440+30580T>A n.242+37975T>A c.1002A>T (p.Val334=) c.1416A>T (p.Val472=) | |
6 | g.32293389T>C | CA449829458 | TSBP1,TSBP1-AS1 | c.1278A>G (p.Val426=) c.1281A>G (p.Val427=) c.1257A>G (p.Val419=) c.1284A>G (p.Val428=) c.1236A>G (p.Val412=) c.1269A>G (p.Val423=) c.1338A>G (p.Val446=) c.1317A>G (p.Val439=) c.1314A>G (p.Val438=) c.1296A>G (p.Val432=) c.1260A>G (p.Val420=) c.1239A>G (p.Val413=) c.421+30580T>C (n.421+30580T>C) n.440+30580T>C n.242+37975T>C c.1002A>G (p.Val334=) c.1416A>G (p.Val472=) | |
6 | g.32293389T>G | CA449829459 | TSBP1,TSBP1-AS1 | c.1278A>C (p.Val426=) c.1281A>C (p.Val427=) c.1257A>C (p.Val419=) c.1284A>C (p.Val428=) c.1236A>C (p.Val412=) c.1269A>C (p.Val423=) c.1338A>C (p.Val446=) c.1317A>C (p.Val439=) c.1314A>C (p.Val438=) c.1296A>C (p.Val432=) c.1260A>C (p.Val420=) c.1239A>C (p.Val413=) c.421+30580T>G (n.421+30580T>G) n.440+30580T>G n.242+37975T>G c.1002A>C (p.Val334=) c.1416A>C (p.Val472=) | |
6 | g.32293390A= | CA1619500813 | TSBP1,TSBP1-AS1 | c.1277T= (p.Val426=) c.1280T= (p.Val427=) c.1256T= (p.Val419=) c.1283T= (p.Val428=) c.1235T= (p.Val412=) c.1268T= (p.Val423=) c.1337T= (p.Val446=) c.1316T= (p.Val439=) c.1313T= (p.Val438=) c.1295T= (p.Val432=) c.1259T= (p.Val420=) c.1238T= (p.Val413=) c.421+30581A= (n.421+30581A=) n.440+30581A= n.242+37976A= c.1001T= (p.Val334=) c.1415T= (p.Val472=) | |
6 | g.32293390A>C | CA363561524 | TSBP1,TSBP1-AS1 | c.1277T>G (p.Val426Gly) c.1280T>G (p.Val427Gly) c.1256T>G (p.Val419Gly) c.1283T>G (p.Val428Gly) c.1235T>G (p.Val412Gly) c.1268T>G (p.Val423Gly) c.1337T>G (p.Val446Gly) c.1316T>G (p.Val439Gly) c.1313T>G (p.Val438Gly) c.1295T>G (p.Val432Gly) c.1259T>G (p.Val420Gly) c.1238T>G (p.Val413Gly) c.421+30581A>C (n.421+30581A>C) n.440+30581A>C n.242+37976A>C c.1001T>G (p.Val334Gly) c.1415T>G (p.Val472Gly) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.32293390A>G | CA363561525 | TSBP1,TSBP1-AS1 | c.1277T>C (p.Val426Ala) c.1280T>C (p.Val427Ala) c.1256T>C (p.Val419Ala) c.1283T>C (p.Val428Ala) c.1235T>C (p.Val412Ala) c.1268T>C (p.Val423Ala) c.1337T>C (p.Val446Ala) c.1316T>C (p.Val439Ala) c.1313T>C (p.Val438Ala) c.1295T>C (p.Val432Ala) c.1259T>C (p.Val420Ala) c.1238T>C (p.Val413Ala) c.421+30581A>G (n.421+30581A>G) n.440+30581A>G n.242+37976A>G c.1001T>C (p.Val334Ala) c.1415T>C (p.Val472Ala) | gnomAD v4 |
6 | g.32293390A>T | CA363561526 | TSBP1,TSBP1-AS1 | c.1277T>A (p.Val426Glu) c.1280T>A (p.Val427Glu) c.1256T>A (p.Val419Glu) c.1283T>A (p.Val428Glu) c.1235T>A (p.Val412Glu) c.1268T>A (p.Val423Glu) c.1337T>A (p.Val446Glu) c.1316T>A (p.Val439Glu) c.1313T>A (p.Val438Glu) c.1295T>A (p.Val432Glu) c.1259T>A (p.Val420Glu) c.1238T>A (p.Val413Glu) c.421+30581A>T (n.421+30581A>T) n.440+30581A>T n.242+37976A>T c.1001T>A (p.Val334Glu) c.1415T>A (p.Val472Glu) | |
6 | g.32293391C>A | CA363561527 | TSBP1,TSBP1-AS1 | c.1276G>T (p.Val426Leu) c.1279G>T (p.Val427Leu) c.1255G>T (p.Val419Leu) c.1282G>T (p.Val428Leu) c.1234G>T (p.Val412Leu) c.1267G>T (p.Val423Leu) c.1336G>T (p.Val446Leu) c.1315G>T (p.Val439Leu) c.1312G>T (p.Val438Leu) c.1294G>T (p.Val432Leu) c.1258G>T (p.Val420Leu) c.1237G>T (p.Val413Leu) c.421+30582C>A (n.421+30582C>A) n.440+30582C>A n.242+37977C>A c.1000G>T (p.Val334Leu) c.1414G>T (p.Val472Leu) | |
6 | g.32293391C= | CA1619500814 | TSBP1,TSBP1-AS1 | c.1276G= (p.Val426=) c.1279G= (p.Val427=) c.1255G= (p.Val419=) c.1282G= (p.Val428=) c.1234G= (p.Val412=) c.1267G= (p.Val423=) c.1336G= (p.Val446=) c.1315G= (p.Val439=) c.1312G= (p.Val438=) c.1294G= (p.Val432=) c.1258G= (p.Val420=) c.1237G= (p.Val413=) c.421+30582C= (n.421+30582C=) n.440+30582C= n.242+37977C= c.1000G= (p.Val334=) c.1414G= (p.Val472=) | |
6 | g.32293391C>G | CA363561528 | TSBP1,TSBP1-AS1 | c.1276G>C (p.Val426Leu) c.1279G>C (p.Val427Leu) c.1255G>C (p.Val419Leu) c.1282G>C (p.Val428Leu) c.1234G>C (p.Val412Leu) c.1267G>C (p.Val423Leu) c.1336G>C (p.Val446Leu) c.1315G>C (p.Val439Leu) c.1312G>C (p.Val438Leu) c.1294G>C (p.Val432Leu) c.1258G>C (p.Val420Leu) c.1237G>C (p.Val413Leu) c.421+30582C>G (n.421+30582C>G) n.440+30582C>G n.242+37977C>G c.1000G>C (p.Val334Leu) c.1414G>C (p.Val472Leu) | |
6 | g.32293391C>T | CA3740502 | TSBP1,TSBP1-AS1 | c.1276G>A (p.Val426Ile) c.1279G>A (p.Val427Ile) c.1255G>A (p.Val419Ile) c.1282G>A (p.Val428Ile) c.1234G>A (p.Val412Ile) c.1267G>A (p.Val423Ile) c.1336G>A (p.Val446Ile) c.1315G>A (p.Val439Ile) c.1312G>A (p.Val438Ile) c.1294G>A (p.Val432Ile) c.1258G>A (p.Val420Ile) c.1237G>A (p.Val413Ile) c.421+30582C>T (n.421+30582C>T) n.440+30582C>T n.242+37977C>T c.1000G>A (p.Val334Ile) c.1414G>A (p.Val472Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32293392T>A | CA363561530 | TSBP1,TSBP1-AS1 | c.1275A>T (p.Gln425His) c.1278A>T (p.Gln426His) c.1254A>T (p.Gln418His) c.1281A>T (p.Gln427His) c.1233A>T (p.Gln411His) c.1266A>T (p.Gln422His) c.1335A>T (p.Gln445His) c.1314A>T (p.Gln438His) c.1311A>T (p.Gln437His) c.1293A>T (p.Gln431His) c.1257A>T (p.Gln419His) c.1236A>T (p.Gln412His) c.421+30583T>A (n.421+30583T>A) n.440+30583T>A n.242+37978T>A c.999A>T (p.Gln333His) c.1413A>T (p.Gln471His) | |
6 | g.32293392T>C | CA449829467 | TSBP1,TSBP1-AS1 | c.1275A>G (p.Gln425=) c.1278A>G (p.Gln426=) c.1254A>G (p.Gln418=) c.1281A>G (p.Gln427=) c.1233A>G (p.Gln411=) c.1266A>G (p.Gln422=) c.1335A>G (p.Gln445=) c.1314A>G (p.Gln438=) c.1311A>G (p.Gln437=) c.1293A>G (p.Gln431=) c.1257A>G (p.Gln419=) c.1236A>G (p.Gln412=) c.421+30583T>C (n.421+30583T>C) n.440+30583T>C n.242+37978T>C c.999A>G (p.Gln333=) c.1413A>G (p.Gln471=) | |
6 | g.32293392T>G | CA363561529 | TSBP1,TSBP1-AS1 | c.1275A>C (p.Gln425His) c.1278A>C (p.Gln426His) c.1254A>C (p.Gln418His) c.1281A>C (p.Gln427His) c.1233A>C (p.Gln411His) c.1266A>C (p.Gln422His) c.1335A>C (p.Gln445His) c.1314A>C (p.Gln438His) c.1311A>C (p.Gln437His) c.1293A>C (p.Gln431His) c.1257A>C (p.Gln419His) c.1236A>C (p.Gln412His) c.421+30583T>G (n.421+30583T>G) n.440+30583T>G n.242+37978T>G c.999A>C (p.Gln333His) c.1413A>C (p.Gln471His) | |
6 | g.32293393T>A | CA363561531 | TSBP1,TSBP1-AS1 | c.1274A>T (p.Gln425Leu) c.1277A>T (p.Gln426Leu) c.1253A>T (p.Gln418Leu) c.1280A>T (p.Gln427Leu) c.1232A>T (p.Gln411Leu) c.1265A>T (p.Gln422Leu) c.1334A>T (p.Gln445Leu) c.1313A>T (p.Gln438Leu) c.1310A>T (p.Gln437Leu) c.1292A>T (p.Gln431Leu) c.1256A>T (p.Gln419Leu) c.1235A>T (p.Gln412Leu) c.421+30584T>A (n.421+30584T>A) n.440+30584T>A n.242+37979T>A c.998A>T (p.Gln333Leu) c.1412A>T (p.Gln471Leu) | |
6 | g.32293393T>C | CA363561532 | TSBP1,TSBP1-AS1 | c.1274A>G (p.Gln425Arg) c.1277A>G (p.Gln426Arg) c.1253A>G (p.Gln418Arg) c.1280A>G (p.Gln427Arg) c.1232A>G (p.Gln411Arg) c.1265A>G (p.Gln422Arg) c.1334A>G (p.Gln445Arg) c.1313A>G (p.Gln438Arg) c.1310A>G (p.Gln437Arg) c.1292A>G (p.Gln431Arg) c.1256A>G (p.Gln419Arg) c.1235A>G (p.Gln412Arg) c.421+30584T>C (n.421+30584T>C) n.440+30584T>C n.242+37979T>C c.998A>G (p.Gln333Arg) c.1412A>G (p.Gln471Arg) | |
6 | g.32293393T>G | CA363561533 | TSBP1,TSBP1-AS1 | c.1274A>C (p.Gln425Pro) c.1277A>C (p.Gln426Pro) c.1253A>C (p.Gln418Pro) c.1280A>C (p.Gln427Pro) c.1232A>C (p.Gln411Pro) c.1265A>C (p.Gln422Pro) c.1334A>C (p.Gln445Pro) c.1313A>C (p.Gln438Pro) c.1310A>C (p.Gln437Pro) c.1292A>C (p.Gln431Pro) c.1256A>C (p.Gln419Pro) c.1235A>C (p.Gln412Pro) c.421+30584T>G (n.421+30584T>G) n.440+30584T>G n.242+37979T>G c.998A>C (p.Gln333Pro) c.1412A>C (p.Gln471Pro) | |
6 | g.32293394_32293398dup | CA2678139198 | TSBP1,TSBP1-AS1 | c.1270_1274dup (p.Val426AlafsTer3) c.1273_1277dup (p.Val427AlafsTer3) c.1249_1253dup (p.Val419AlafsTer3) c.1276_1280dup (p.Val428AlafsTer3) c.1228_1232dup (p.Val412AlafsTer3) c.1261_1265dup (p.Val423AlafsTer3) c.1330_1334dup (p.Val446AlafsTer3) c.1309_1313dup (p.Val439AlafsTer3) c.1306_1310dup (p.Val438AlafsTer3) c.1288_1292dup (p.Val432AlafsTer3) c.1252_1256dup (p.Val420AlafsTer3) c.1231_1235dup (p.Val413AlafsTer3) c.421+30585_421+30589dup (n.421+30585_421+30589dup) n.440+30585_440+30589dup n.242+37980_242+37984dup c.994_998dup (p.Val334AlafsTer3) c.1408_1412dup (p.Val472AlafsTer3) | gnomAD v4 |
6 | g.32293394G>A | CA363561534 | TSBP1,TSBP1-AS1 | c.1273C>T (p.Gln425Ter) c.1276C>T (p.Gln426Ter) c.1252C>T (p.Gln418Ter) c.1279C>T (p.Gln427Ter) c.1231C>T (p.Gln411Ter) c.1264C>T (p.Gln422Ter) c.1333C>T (p.Gln445Ter) c.1312C>T (p.Gln438Ter) c.1309C>T (p.Gln437Ter) c.1291C>T (p.Gln431Ter) c.1255C>T (p.Gln419Ter) c.1234C>T (p.Gln412Ter) c.421+30585G>A (n.421+30585G>A) n.440+30585G>A n.242+37980G>A c.997C>T (p.Gln333Ter) c.1411C>T (p.Gln471Ter) | |
6 | g.32293394G>C | CA363561535 | TSBP1,TSBP1-AS1 | c.1273C>G (p.Gln425Glu) c.1276C>G (p.Gln426Glu) c.1252C>G (p.Gln418Glu) c.1279C>G (p.Gln427Glu) c.1231C>G (p.Gln411Glu) c.1264C>G (p.Gln422Glu) c.1333C>G (p.Gln445Glu) c.1312C>G (p.Gln438Glu) c.1309C>G (p.Gln437Glu) c.1291C>G (p.Gln431Glu) c.1255C>G (p.Gln419Glu) c.1234C>G (p.Gln412Glu) c.421+30585G>C (n.421+30585G>C) n.440+30585G>C n.242+37980G>C c.997C>G (p.Gln333Glu) c.1411C>G (p.Gln471Glu) | |
6 | g.32293394G>T | CA363561536 | TSBP1,TSBP1-AS1 | c.1273C>A (p.Gln425Lys) c.1276C>A (p.Gln426Lys) c.1252C>A (p.Gln418Lys) c.1279C>A (p.Gln427Lys) c.1231C>A (p.Gln411Lys) c.1264C>A (p.Gln422Lys) c.1333C>A (p.Gln445Lys) c.1312C>A (p.Gln438Lys) c.1309C>A (p.Gln437Lys) c.1291C>A (p.Gln431Lys) c.1255C>A (p.Gln419Lys) c.1234C>A (p.Gln412Lys) c.421+30585G>T (n.421+30585G>T) n.440+30585G>T n.242+37980G>T c.997C>A (p.Gln333Lys) c.1411C>A (p.Gln471Lys) | |
6 | g.32293395G>A | CA449829472 | TSBP1,TSBP1-AS1 | c.1272C>T (p.Gly424=) c.1275C>T (p.Gly425=) c.1251C>T (p.Gly417=) c.1278C>T (p.Gly426=) c.1230C>T (p.Gly410=) c.1263C>T (p.Gly421=) c.1332C>T (p.Gly444=) c.1311C>T (p.Gly437=) c.1308C>T (p.Gly436=) c.1290C>T (p.Gly430=) c.1254C>T (p.Gly418=) c.1233C>T (p.Gly411=) c.421+30586G>A (n.421+30586G>A) n.440+30586G>A n.242+37981G>A c.996C>T (p.Gly332=) c.1410C>T (p.Gly470=) | |
6 | g.32293395G>C | CA449829474 | TSBP1,TSBP1-AS1 | c.1272C>G (p.Gly424=) c.1275C>G (p.Gly425=) c.1251C>G (p.Gly417=) c.1278C>G (p.Gly426=) c.1230C>G (p.Gly410=) c.1263C>G (p.Gly421=) c.1332C>G (p.Gly444=) c.1311C>G (p.Gly437=) c.1308C>G (p.Gly436=) c.1290C>G (p.Gly430=) c.1254C>G (p.Gly418=) c.1233C>G (p.Gly411=) c.421+30586G>C (n.421+30586G>C) n.440+30586G>C n.242+37981G>C c.996C>G (p.Gly332=) c.1410C>G (p.Gly470=) | |
6 | g.32293395G>T | CA449829473 | TSBP1,TSBP1-AS1 | c.1272C>A (p.Gly424=) c.1275C>A (p.Gly425=) c.1251C>A (p.Gly417=) c.1278C>A (p.Gly426=) c.1230C>A (p.Gly410=) c.1263C>A (p.Gly421=) c.1332C>A (p.Gly444=) c.1311C>A (p.Gly437=) c.1308C>A (p.Gly436=) c.1290C>A (p.Gly430=) c.1254C>A (p.Gly418=) c.1233C>A (p.Gly411=) c.421+30586G>T (n.421+30586G>T) n.440+30586G>T n.242+37981G>T c.996C>A (p.Gly332=) c.1410C>A (p.Gly470=) | |
6 | g.32293396C>A | CA363561537 | TSBP1,TSBP1-AS1 | c.1271G>T (p.Gly424Val) c.1274G>T (p.Gly425Val) c.1250G>T (p.Gly417Val) c.1277G>T (p.Gly426Val) c.1229G>T (p.Gly410Val) c.1262G>T (p.Gly421Val) c.1331G>T (p.Gly444Val) c.1310G>T (p.Gly437Val) c.1307G>T (p.Gly436Val) c.1289G>T (p.Gly430Val) c.1253G>T (p.Gly418Val) c.1232G>T (p.Gly411Val) c.421+30587C>A (n.421+30587C>A) n.440+30587C>A n.242+37982C>A c.995G>T (p.Gly332Val) c.1409G>T (p.Gly470Val) | dbSNP gnomAD v2 |
6 | g.32293396C= | CA1619500815 | TSBP1,TSBP1-AS1 | c.1271G= (p.Gly424=) c.1274G= (p.Gly425=) c.1250G= (p.Gly417=) c.1277G= (p.Gly426=) c.1229G= (p.Gly410=) c.1262G= (p.Gly421=) c.1331G= (p.Gly444=) c.1310G= (p.Gly437=) c.1307G= (p.Gly436=) c.1289G= (p.Gly430=) c.1253G= (p.Gly418=) c.1232G= (p.Gly411=) c.421+30587C= (n.421+30587C=) n.440+30587C= n.242+37982C= c.995G= (p.Gly332=) c.1409G= (p.Gly470=) | |
6 | g.32293396C>G | CA363561539 | TSBP1,TSBP1-AS1 | c.1271G>C (p.Gly424Ala) c.1274G>C (p.Gly425Ala) c.1250G>C (p.Gly417Ala) c.1277G>C (p.Gly426Ala) c.1229G>C (p.Gly410Ala) c.1262G>C (p.Gly421Ala) c.1331G>C (p.Gly444Ala) c.1310G>C (p.Gly437Ala) c.1307G>C (p.Gly436Ala) c.1289G>C (p.Gly430Ala) c.1253G>C (p.Gly418Ala) c.1232G>C (p.Gly411Ala) c.421+30587C>G (n.421+30587C>G) n.440+30587C>G n.242+37982C>G c.995G>C (p.Gly332Ala) c.1409G>C (p.Gly470Ala) | |
6 | g.32293396C>T | CA363561538 | TSBP1,TSBP1-AS1 | c.1271G>A (p.Gly424Asp) c.1274G>A (p.Gly425Asp) c.1250G>A (p.Gly417Asp) c.1277G>A (p.Gly426Asp) c.1229G>A (p.Gly410Asp) c.1262G>A (p.Gly421Asp) c.1331G>A (p.Gly444Asp) c.1310G>A (p.Gly437Asp) c.1307G>A (p.Gly436Asp) c.1289G>A (p.Gly430Asp) c.1253G>A (p.Gly418Asp) c.1232G>A (p.Gly411Asp) c.421+30587C>T (n.421+30587C>T) n.440+30587C>T n.242+37982C>T c.995G>A (p.Gly332Asp) c.1409G>A (p.Gly470Asp) | |
6 | g.32293397C>A | CA136929564 | TSBP1,TSBP1-AS1 | c.1270G>T (p.Gly424Cys) c.1273G>T (p.Gly425Cys) c.1249G>T (p.Gly417Cys) c.1276G>T (p.Gly426Cys) c.1228G>T (p.Gly410Cys) c.1261G>T (p.Gly421Cys) c.1330G>T (p.Gly444Cys) c.1309G>T (p.Gly437Cys) c.1306G>T (p.Gly436Cys) c.1288G>T (p.Gly430Cys) c.1252G>T (p.Gly418Cys) c.1231G>T (p.Gly411Cys) c.421+30588C>A (n.421+30588C>A) n.440+30588C>A n.242+37983C>A c.994G>T (p.Gly332Cys) c.1408G>T (p.Gly470Cys) | dbSNP |
6 | g.32293397C= | CA1619500816 | TSBP1,TSBP1-AS1 | c.1270G= (p.Gly424=) c.1273G= (p.Gly425=) c.1249G= (p.Gly417=) c.1276G= (p.Gly426=) c.1228G= (p.Gly410=) c.1261G= (p.Gly421=) c.1330G= (p.Gly444=) c.1309G= (p.Gly437=) c.1306G= (p.Gly436=) c.1288G= (p.Gly430=) c.1252G= (p.Gly418=) c.1231G= (p.Gly411=) c.421+30588C= (n.421+30588C=) n.440+30588C= n.242+37983C= c.994G= (p.Gly332=) c.1408G= (p.Gly470=) | |
6 | g.32293397C>G | CA363561540 | TSBP1,TSBP1-AS1 | c.1270G>C (p.Gly424Arg) c.1273G>C (p.Gly425Arg) c.1249G>C (p.Gly417Arg) c.1276G>C (p.Gly426Arg) c.1228G>C (p.Gly410Arg) c.1261G>C (p.Gly421Arg) c.1330G>C (p.Gly444Arg) c.1309G>C (p.Gly437Arg) c.1306G>C (p.Gly436Arg) c.1288G>C (p.Gly430Arg) c.1252G>C (p.Gly418Arg) c.1231G>C (p.Gly411Arg) c.421+30588C>G (n.421+30588C>G) n.440+30588C>G n.242+37983C>G c.994G>C (p.Gly332Arg) c.1408G>C (p.Gly470Arg) | |
6 | g.32293397C>T | CA363561541 | TSBP1,TSBP1-AS1 | c.1270G>A (p.Gly424Ser) c.1273G>A (p.Gly425Ser) c.1249G>A (p.Gly417Ser) c.1276G>A (p.Gly426Ser) c.1228G>A (p.Gly410Ser) c.1261G>A (p.Gly421Ser) c.1330G>A (p.Gly444Ser) c.1309G>A (p.Gly437Ser) c.1306G>A (p.Gly436Ser) c.1288G>A (p.Gly430Ser) c.1252G>A (p.Gly418Ser) c.1231G>A (p.Gly411Ser) c.421+30588C>T (n.421+30588C>T) n.440+30588C>T n.242+37983C>T c.994G>A (p.Gly332Ser) c.1408G>A (p.Gly470Ser) | gnomAD v4 |
6 | g.32293398T>A | CA363561542 | TSBP1,TSBP1-AS1 | c.1269A>T (p.Glu423Asp) c.1272A>T (p.Glu424Asp) c.1248A>T (p.Glu416Asp) c.1275A>T (p.Glu425Asp) c.1227A>T (p.Glu409Asp) c.1260A>T (p.Glu420Asp) c.1329A>T (p.Glu443Asp) c.1308A>T (p.Glu436Asp) c.1305A>T (p.Glu435Asp) c.1287A>T (p.Glu429Asp) c.1251A>T (p.Glu417Asp) c.1230A>T (p.Glu410Asp) c.421+30589T>A (n.421+30589T>A) n.440+30589T>A n.242+37984T>A c.993A>T (p.Glu331Asp) c.1407A>T (p.Glu469Asp) | |
6 | g.32293398T>C | CA449829479 | TSBP1,TSBP1-AS1 | c.1269A>G (p.Glu423=) c.1272A>G (p.Glu424=) c.1248A>G (p.Glu416=) c.1275A>G (p.Glu425=) c.1227A>G (p.Glu409=) c.1260A>G (p.Glu420=) c.1329A>G (p.Glu443=) c.1308A>G (p.Glu436=) c.1305A>G (p.Glu435=) c.1287A>G (p.Glu429=) c.1251A>G (p.Glu417=) c.1230A>G (p.Glu410=) c.421+30589T>C (n.421+30589T>C) n.440+30589T>C n.242+37984T>C c.993A>G (p.Glu331=) c.1407A>G (p.Glu469=) | |
6 | g.32293398T>G | CA363561543 | TSBP1,TSBP1-AS1 | c.1269A>C (p.Glu423Asp) c.1272A>C (p.Glu424Asp) c.1248A>C (p.Glu416Asp) c.1275A>C (p.Glu425Asp) c.1227A>C (p.Glu409Asp) c.1260A>C (p.Glu420Asp) c.1329A>C (p.Glu443Asp) c.1308A>C (p.Glu436Asp) c.1305A>C (p.Glu435Asp) c.1287A>C (p.Glu429Asp) c.1251A>C (p.Glu417Asp) c.1230A>C (p.Glu410Asp) c.421+30589T>G (n.421+30589T>G) n.440+30589T>G n.242+37984T>G c.993A>C (p.Glu331Asp) c.1407A>C (p.Glu469Asp) | |
6 | g.32293399T>A | CA363561544 | TSBP1,TSBP1-AS1 | c.1268A>T (p.Glu423Val) c.1271A>T (p.Glu424Val) c.1247A>T (p.Glu416Val) c.1274A>T (p.Glu425Val) c.1226A>T (p.Glu409Val) c.1259A>T (p.Glu420Val) c.1328A>T (p.Glu443Val) c.1307A>T (p.Glu436Val) c.1304A>T (p.Glu435Val) c.1286A>T (p.Glu429Val) c.1250A>T (p.Glu417Val) c.1229A>T (p.Glu410Val) c.421+30590T>A (n.421+30590T>A) n.440+30590T>A n.242+37985T>A c.992A>T (p.Glu331Val) c.1406A>T (p.Glu469Val) | gnomAD v4 |
6 | g.32293399T>C | CA363561545 | TSBP1,TSBP1-AS1 | c.1268A>G (p.Glu423Gly) c.1271A>G (p.Glu424Gly) c.1247A>G (p.Glu416Gly) c.1274A>G (p.Glu425Gly) c.1226A>G (p.Glu409Gly) c.1259A>G (p.Glu420Gly) c.1328A>G (p.Glu443Gly) c.1307A>G (p.Glu436Gly) c.1304A>G (p.Glu435Gly) c.1286A>G (p.Glu429Gly) c.1250A>G (p.Glu417Gly) c.1229A>G (p.Glu410Gly) c.421+30590T>C (n.421+30590T>C) n.440+30590T>C n.242+37985T>C c.992A>G (p.Glu331Gly) c.1406A>G (p.Glu469Gly) | |
6 | g.32293399T>G | CA363561546 | TSBP1,TSBP1-AS1 | c.1268A>C (p.Glu423Ala) c.1271A>C (p.Glu424Ala) c.1247A>C (p.Glu416Ala) c.1274A>C (p.Glu425Ala) c.1226A>C (p.Glu409Ala) c.1259A>C (p.Glu420Ala) c.1328A>C (p.Glu443Ala) c.1307A>C (p.Glu436Ala) c.1304A>C (p.Glu435Ala) c.1286A>C (p.Glu429Ala) c.1250A>C (p.Glu417Ala) c.1229A>C (p.Glu410Ala) c.421+30590T>G (n.421+30590T>G) n.440+30590T>G n.242+37985T>G c.992A>C (p.Glu331Ala) c.1406A>C (p.Glu469Ala) | |
6 | g.32293400C>A | CA363561547 | TSBP1,TSBP1-AS1 | c.1267G>T (p.Glu423Ter) c.1270G>T (p.Glu424Ter) c.1246G>T (p.Glu416Ter) c.1273G>T (p.Glu425Ter) c.1225G>T (p.Glu409Ter) c.1258G>T (p.Glu420Ter) c.1327G>T (p.Glu443Ter) c.1306G>T (p.Glu436Ter) c.1303G>T (p.Glu435Ter) c.1285G>T (p.Glu429Ter) c.1249G>T (p.Glu417Ter) c.1228G>T (p.Glu410Ter) c.421+30591C>A (n.421+30591C>A) n.440+30591C>A n.242+37986C>A c.991G>T (p.Glu331Ter) c.1405G>T (p.Glu469Ter) | gnomAD v4 |
6 | g.32293400C>G | CA363561548 | TSBP1,TSBP1-AS1 | c.1267G>C (p.Glu423Gln) c.1270G>C (p.Glu424Gln) c.1246G>C (p.Glu416Gln) c.1273G>C (p.Glu425Gln) c.1225G>C (p.Glu409Gln) c.1258G>C (p.Glu420Gln) c.1327G>C (p.Glu443Gln) c.1306G>C (p.Glu436Gln) c.1303G>C (p.Glu435Gln) c.1285G>C (p.Glu429Gln) c.1249G>C (p.Glu417Gln) c.1228G>C (p.Glu410Gln) c.421+30591C>G (n.421+30591C>G) n.440+30591C>G n.242+37986C>G c.991G>C (p.Glu331Gln) c.1405G>C (p.Glu469Gln) | |
6 | g.32293400C>T | CA363561549 | TSBP1,TSBP1-AS1 | c.1267G>A (p.Glu423Lys) c.1270G>A (p.Glu424Lys) c.1246G>A (p.Glu416Lys) c.1273G>A (p.Glu425Lys) c.1225G>A (p.Glu409Lys) c.1258G>A (p.Glu420Lys) c.1327G>A (p.Glu443Lys) c.1306G>A (p.Glu436Lys) c.1303G>A (p.Glu435Lys) c.1285G>A (p.Glu429Lys) c.1249G>A (p.Glu417Lys) c.1228G>A (p.Glu410Lys) c.421+30591C>T (n.421+30591C>T) n.440+30591C>T n.242+37986C>T c.991G>A (p.Glu331Lys) c.1405G>A (p.Glu469Lys) | |
6 | g.32293401T>A | CA363561551 | TSBP1,TSBP1-AS1 | c.1266A>T (p.Gln422His) c.1269A>T (p.Gln423His) c.1245A>T (p.Gln415His) c.1272A>T (p.Gln424His) c.1224A>T (p.Gln408His) c.1257A>T (p.Gln419His) c.1326A>T (p.Gln442His) c.1305A>T (p.Gln435His) c.1302A>T (p.Gln434His) c.1284A>T (p.Gln428His) c.1248A>T (p.Gln416His) c.1227A>T (p.Gln409His) c.421+30592T>A (n.421+30592T>A) n.440+30592T>A n.242+37987T>A c.990A>T (p.Gln330His) c.1404A>T (p.Gln468His) | |
6 | g.32293401T>C | CA449829485 | TSBP1,TSBP1-AS1 | c.1266A>G (p.Gln422=) c.1269A>G (p.Gln423=) c.1245A>G (p.Gln415=) c.1272A>G (p.Gln424=) c.1224A>G (p.Gln408=) c.1257A>G (p.Gln419=) c.1326A>G (p.Gln442=) c.1305A>G (p.Gln435=) c.1302A>G (p.Gln434=) c.1284A>G (p.Gln428=) c.1248A>G (p.Gln416=) c.1227A>G (p.Gln409=) c.421+30592T>C (n.421+30592T>C) n.440+30592T>C n.242+37987T>C c.990A>G (p.Gln330=) c.1404A>G (p.Gln468=) | |
6 | g.32293401T>G | CA363561550 | TSBP1,TSBP1-AS1 | c.1266A>C (p.Gln422His) c.1269A>C (p.Gln423His) c.1245A>C (p.Gln415His) c.1272A>C (p.Gln424His) c.1224A>C (p.Gln408His) c.1257A>C (p.Gln419His) c.1326A>C (p.Gln442His) c.1305A>C (p.Gln435His) c.1302A>C (p.Gln434His) c.1284A>C (p.Gln428His) c.1248A>C (p.Gln416His) c.1227A>C (p.Gln409His) c.421+30592T>G (n.421+30592T>G) n.440+30592T>G n.242+37987T>G c.990A>C (p.Gln330His) c.1404A>C (p.Gln468His) | |
6 | g.32293402T>A | CA363561552 | TSBP1,TSBP1-AS1 | c.1265A>T (p.Gln422Leu) c.1268A>T (p.Gln423Leu) c.1244A>T (p.Gln415Leu) c.1271A>T (p.Gln424Leu) c.1223A>T (p.Gln408Leu) c.1256A>T (p.Gln419Leu) c.1325A>T (p.Gln442Leu) c.1304A>T (p.Gln435Leu) c.1301A>T (p.Gln434Leu) c.1283A>T (p.Gln428Leu) c.1247A>T (p.Gln416Leu) c.1226A>T (p.Gln409Leu) c.421+30593T>A (n.421+30593T>A) n.440+30593T>A n.242+37988T>A c.989A>T (p.Gln330Leu) c.1403A>T (p.Gln468Leu) | gnomAD v4 |
6 | g.32293402T>C | CA363561554 | TSBP1,TSBP1-AS1 | c.1265A>G (p.Gln422Arg) c.1268A>G (p.Gln423Arg) c.1244A>G (p.Gln415Arg) c.1271A>G (p.Gln424Arg) c.1223A>G (p.Gln408Arg) c.1256A>G (p.Gln419Arg) c.1325A>G (p.Gln442Arg) c.1304A>G (p.Gln435Arg) c.1301A>G (p.Gln434Arg) c.1283A>G (p.Gln428Arg) c.1247A>G (p.Gln416Arg) c.1226A>G (p.Gln409Arg) c.421+30593T>C (n.421+30593T>C) n.440+30593T>C n.242+37988T>C c.989A>G (p.Gln330Arg) c.1403A>G (p.Gln468Arg) | dbSNP gnomAD v4 |
6 | g.32293402T>G | CA363561553 | TSBP1,TSBP1-AS1 | c.1265A>C (p.Gln422Pro) c.1268A>C (p.Gln423Pro) c.1244A>C (p.Gln415Pro) c.1271A>C (p.Gln424Pro) c.1223A>C (p.Gln408Pro) c.1256A>C (p.Gln419Pro) c.1325A>C (p.Gln442Pro) c.1304A>C (p.Gln435Pro) c.1301A>C (p.Gln434Pro) c.1283A>C (p.Gln428Pro) c.1247A>C (p.Gln416Pro) c.1226A>C (p.Gln409Pro) c.421+30593T>G (n.421+30593T>G) n.440+30593T>G n.242+37988T>G c.989A>C (p.Gln330Pro) c.1403A>C (p.Gln468Pro) | |
6 | g.32293402T= | CA1619500817 | TSBP1,TSBP1-AS1 | c.1265A= (p.Gln422=) c.1268A= (p.Gln423=) c.1244A= (p.Gln415=) c.1271A= (p.Gln424=) c.1223A= (p.Gln408=) c.1256A= (p.Gln419=) c.1325A= (p.Gln442=) c.1304A= (p.Gln435=) c.1301A= (p.Gln434=) c.1283A= (p.Gln428=) c.1247A= (p.Gln416=) c.1226A= (p.Gln409=) c.421+30593T= (n.421+30593T=) n.440+30593T= n.242+37988T= c.989A= (p.Gln330=) c.1403A= (p.Gln468=) | |
6 | g.32293403G>A | CA363561555 | TSBP1,TSBP1-AS1 | c.1264C>T (p.Gln422Ter) c.1267C>T (p.Gln423Ter) c.1243C>T (p.Gln415Ter) c.1270C>T (p.Gln424Ter) c.1222C>T (p.Gln408Ter) c.1255C>T (p.Gln419Ter) c.1324C>T (p.Gln442Ter) c.1303C>T (p.Gln435Ter) c.1300C>T (p.Gln434Ter) c.1282C>T (p.Gln428Ter) c.1246C>T (p.Gln416Ter) c.1225C>T (p.Gln409Ter) c.421+30594G>A (n.421+30594G>A) n.440+30594G>A n.242+37989G>A c.988C>T (p.Gln330Ter) c.1402C>T (p.Gln468Ter) | |
6 | g.32293403G>C | CA363561556 | TSBP1,TSBP1-AS1 | c.1264C>G (p.Gln422Glu) c.1267C>G (p.Gln423Glu) c.1243C>G (p.Gln415Glu) c.1270C>G (p.Gln424Glu) c.1222C>G (p.Gln408Glu) c.1255C>G (p.Gln419Glu) c.1324C>G (p.Gln442Glu) c.1303C>G (p.Gln435Glu) c.1300C>G (p.Gln434Glu) c.1282C>G (p.Gln428Glu) c.1246C>G (p.Gln416Glu) c.1225C>G (p.Gln409Glu) c.421+30594G>C (n.421+30594G>C) n.440+30594G>C n.242+37989G>C c.988C>G (p.Gln330Glu) c.1402C>G (p.Gln468Glu) | |
6 | g.32293403G>T | CA363561557 | TSBP1,TSBP1-AS1 | c.1264C>A (p.Gln422Lys) c.1267C>A (p.Gln423Lys) c.1243C>A (p.Gln415Lys) c.1270C>A (p.Gln424Lys) c.1222C>A (p.Gln408Lys) c.1255C>A (p.Gln419Lys) c.1324C>A (p.Gln442Lys) c.1303C>A (p.Gln435Lys) c.1300C>A (p.Gln434Lys) c.1282C>A (p.Gln428Lys) c.1246C>A (p.Gln416Lys) c.1225C>A (p.Gln409Lys) c.421+30594G>T (n.421+30594G>T) n.440+30594G>T n.242+37989G>T c.988C>A (p.Gln330Lys) c.1402C>A (p.Gln468Lys) | |
6 | g.32293404T>A | CA449829486 | TSBP1,TSBP1-AS1 | c.1263A>T (p.Gly421=) c.1266A>T (p.Gly422=) c.1242A>T (p.Gly414=) c.1269A>T (p.Gly423=) c.1221A>T (p.Gly407=) c.1254A>T (p.Gly418=) c.1323A>T (p.Gly441=) c.1302A>T (p.Gly434=) c.1299A>T (p.Gly433=) c.1281A>T (p.Gly427=) c.1245A>T (p.Gly415=) c.1224A>T (p.Gly408=) c.421+30595T>A (n.421+30595T>A) n.440+30595T>A n.242+37990T>A c.987A>T (p.Gly329=) c.1401A>T (p.Gly467=) | |
6 | g.32293404T>C | CA449829487 | TSBP1,TSBP1-AS1 | c.1263A>G (p.Gly421=) c.1266A>G (p.Gly422=) c.1242A>G (p.Gly414=) c.1269A>G (p.Gly423=) c.1221A>G (p.Gly407=) c.1254A>G (p.Gly418=) c.1323A>G (p.Gly441=) c.1302A>G (p.Gly434=) c.1299A>G (p.Gly433=) c.1281A>G (p.Gly427=) c.1245A>G (p.Gly415=) c.1224A>G (p.Gly408=) c.421+30595T>C (n.421+30595T>C) n.440+30595T>C n.242+37990T>C c.987A>G (p.Gly329=) c.1401A>G (p.Gly467=) | |
6 | g.32293404T>G | CA449829488 | TSBP1,TSBP1-AS1 | c.1263A>C (p.Gly421=) c.1266A>C (p.Gly422=) c.1242A>C (p.Gly414=) c.1269A>C (p.Gly423=) c.1221A>C (p.Gly407=) c.1254A>C (p.Gly418=) c.1323A>C (p.Gly441=) c.1302A>C (p.Gly434=) c.1299A>C (p.Gly433=) c.1281A>C (p.Gly427=) c.1245A>C (p.Gly415=) c.1224A>C (p.Gly408=) c.421+30595T>G (n.421+30595T>G) n.440+30595T>G n.242+37990T>G c.987A>C (p.Gly329=) c.1401A>C (p.Gly467=) | |
6 | g.32293405C>A | CA363561558 | TSBP1,TSBP1-AS1 | c.1262G>T (p.Gly421Val) c.1265G>T (p.Gly422Val) c.1241G>T (p.Gly414Val) c.1268G>T (p.Gly423Val) c.1220G>T (p.Gly407Val) c.1253G>T (p.Gly418Val) c.1322G>T (p.Gly441Val) c.1301G>T (p.Gly434Val) c.1298G>T (p.Gly433Val) c.1280G>T (p.Gly427Val) c.1244G>T (p.Gly415Val) c.1223G>T (p.Gly408Val) c.421+30596C>A (n.421+30596C>A) n.440+30596C>A n.242+37991C>A c.986G>T (p.Gly329Val) c.1400G>T (p.Gly467Val) | |
6 | g.32293405C>G | CA363561559 | TSBP1,TSBP1-AS1 | c.1262G>C (p.Gly421Ala) c.1265G>C (p.Gly422Ala) c.1241G>C (p.Gly414Ala) c.1268G>C (p.Gly423Ala) c.1220G>C (p.Gly407Ala) c.1253G>C (p.Gly418Ala) c.1322G>C (p.Gly441Ala) c.1301G>C (p.Gly434Ala) c.1298G>C (p.Gly433Ala) c.1280G>C (p.Gly427Ala) c.1244G>C (p.Gly415Ala) c.1223G>C (p.Gly408Ala) c.421+30596C>G (n.421+30596C>G) n.440+30596C>G n.242+37991C>G c.986G>C (p.Gly329Ala) c.1400G>C (p.Gly467Ala) | |
6 | g.32293405C>T | CA363561560 | TSBP1,TSBP1-AS1 | c.1262G>A (p.Gly421Glu) c.1265G>A (p.Gly422Glu) c.1241G>A (p.Gly414Glu) c.1268G>A (p.Gly423Glu) c.1220G>A (p.Gly407Glu) c.1253G>A (p.Gly418Glu) c.1322G>A (p.Gly441Glu) c.1301G>A (p.Gly434Glu) c.1298G>A (p.Gly433Glu) c.1280G>A (p.Gly427Glu) c.1244G>A (p.Gly415Glu) c.1223G>A (p.Gly408Glu) c.421+30596C>T (n.421+30596C>T) n.440+30596C>T n.242+37991C>T c.986G>A (p.Gly329Glu) c.1400G>A (p.Gly467Glu) | |
6 | g.32293406C>A | CA363561561 | TSBP1,TSBP1-AS1 | c.1261G>T (p.Gly421Ter) c.1264G>T (p.Gly422Ter) c.1240G>T (p.Gly414Ter) c.1267G>T (p.Gly423Ter) c.1219G>T (p.Gly407Ter) c.1252G>T (p.Gly418Ter) c.1321G>T (p.Gly441Ter) c.1300G>T (p.Gly434Ter) c.1297G>T (p.Gly433Ter) c.1279G>T (p.Gly427Ter) c.1243G>T (p.Gly415Ter) c.1222G>T (p.Gly408Ter) c.421+30597C>A (n.421+30597C>A) n.440+30597C>A n.242+37992C>A c.985G>T (p.Gly329Ter) c.1399G>T (p.Gly467Ter) | |
6 | g.32293406C= | CA1619500819 | TSBP1,TSBP1-AS1 | c.1261G= (p.Gly421=) c.1264G= (p.Gly422=) c.1240G= (p.Gly414=) c.1267G= (p.Gly423=) c.1219G= (p.Gly407=) c.1252G= (p.Gly418=) c.1321G= (p.Gly441=) c.1300G= (p.Gly434=) c.1297G= (p.Gly433=) c.1279G= (p.Gly427=) c.1243G= (p.Gly415=) c.1222G= (p.Gly408=) c.421+30597C= (n.421+30597C=) n.440+30597C= n.242+37992C= c.985G= (p.Gly329=) c.1399G= (p.Gly467=) | |
6 | g.32293406C>G | CA363561562 | TSBP1,TSBP1-AS1 | c.1261G>C (p.Gly421Arg) c.1264G>C (p.Gly422Arg) c.1240G>C (p.Gly414Arg) c.1267G>C (p.Gly423Arg) c.1219G>C (p.Gly407Arg) c.1252G>C (p.Gly418Arg) c.1321G>C (p.Gly441Arg) c.1300G>C (p.Gly434Arg) c.1297G>C (p.Gly433Arg) c.1279G>C (p.Gly427Arg) c.1243G>C (p.Gly415Arg) c.1222G>C (p.Gly408Arg) c.421+30597C>G (n.421+30597C>G) n.440+30597C>G n.242+37992C>G c.985G>C (p.Gly329Arg) c.1399G>C (p.Gly467Arg) | |
6 | g.32293406C>T | CA136929565 | TSBP1,TSBP1-AS1 | c.1261G>A (p.Gly421Arg) c.1264G>A (p.Gly422Arg) c.1240G>A (p.Gly414Arg) c.1267G>A (p.Gly423Arg) c.1219G>A (p.Gly407Arg) c.1252G>A (p.Gly418Arg) c.1321G>A (p.Gly441Arg) c.1300G>A (p.Gly434Arg) c.1297G>A (p.Gly433Arg) c.1279G>A (p.Gly427Arg) c.1243G>A (p.Gly415Arg) c.1222G>A (p.Gly408Arg) c.421+30597C>T (n.421+30597C>T) n.440+30597C>T n.242+37992C>T c.985G>A (p.Gly329Arg) c.1399G>A (p.Gly467Arg) | dbSNP |
6 | g.32293406_32293407delinsCT | CA1619500818 | TSBP1,TSBP1-AS1 | c.1260_1261delinsAG (p.Lys420=) c.1263_1264delinsAG (p.Lys421=) c.1239_1240delinsAG (p.Lys413=) c.1266_1267delinsAG (p.Lys422=) c.1218_1219delinsAG (p.Lys406=) c.1251_1252delinsAG (p.Lys417=) c.1320_1321delinsAG (p.Lys440=) c.1299_1300delinsAG (p.Lys433=) c.1296_1297delinsAG (p.Lys432=) c.1278_1279delinsAG (p.Lys426=) c.1242_1243delinsAG (p.Lys414=) c.1221_1222delinsAG (p.Lys407=) c.421+30597_421+30598delinsCT (n.421+30597_421+30598delinsCT) n.440+30597_440+30598delinsCT n.242+37992_242+37993delinsCT c.984_985delinsAG (p.Lys328=) c.1398_1399delinsAG (p.Lys466=) | |
6 | g.32293407T>A | CA363561563 | TSBP1,TSBP1-AS1 | c.1260A>T (p.Lys420Asn) c.1263A>T (p.Lys421Asn) c.1239A>T (p.Lys413Asn) c.1266A>T (p.Lys422Asn) c.1218A>T (p.Lys406Asn) c.1251A>T (p.Lys417Asn) c.1320A>T (p.Lys440Asn) c.1299A>T (p.Lys433Asn) c.1296A>T (p.Lys432Asn) c.1278A>T (p.Lys426Asn) c.1242A>T (p.Lys414Asn) c.1221A>T (p.Lys407Asn) c.421+30598T>A (n.421+30598T>A) n.440+30598T>A n.242+37993T>A c.984A>T (p.Lys328Asn) c.1398A>T (p.Lys466Asn) | |
6 | g.32293407T>C | CA449829492 | TSBP1,TSBP1-AS1 | c.1260A>G (p.Lys420=) c.1263A>G (p.Lys421=) c.1239A>G (p.Lys413=) c.1266A>G (p.Lys422=) c.1218A>G (p.Lys406=) c.1251A>G (p.Lys417=) c.1320A>G (p.Lys440=) c.1299A>G (p.Lys433=) c.1296A>G (p.Lys432=) c.1278A>G (p.Lys426=) c.1242A>G (p.Lys414=) c.1221A>G (p.Lys407=) c.421+30598T>C (n.421+30598T>C) n.440+30598T>C n.242+37993T>C c.984A>G (p.Lys328=) c.1398A>G (p.Lys466=) | |
6 | g.32293407T>G | CA363561564 | TSBP1,TSBP1-AS1 | c.1260A>C (p.Lys420Asn) c.1263A>C (p.Lys421Asn) c.1239A>C (p.Lys413Asn) c.1266A>C (p.Lys422Asn) c.1218A>C (p.Lys406Asn) c.1251A>C (p.Lys417Asn) c.1320A>C (p.Lys440Asn) c.1299A>C (p.Lys433Asn) c.1296A>C (p.Lys432Asn) c.1278A>C (p.Lys426Asn) c.1242A>C (p.Lys414Asn) c.1221A>C (p.Lys407Asn) c.421+30598T>G (n.421+30598T>G) n.440+30598T>G n.242+37993T>G c.984A>C (p.Lys328Asn) c.1398A>C (p.Lys466Asn) | |
6 | g.32293410del | CA3740503 | TSBP1,TSBP1-AS1 | c.1260del (p.Gly421AspfsTer6) c.1263del (p.Gly422AspfsTer6) c.1239del (p.Gly414AspfsTer6) c.1266del (p.Gly423AspfsTer6) c.1218del (p.Gly407AspfsTer6) c.1251del (p.Gly418AspfsTer6) c.1320del (p.Gly441AspfsTer6) c.1299del (p.Gly434AspfsTer6) c.1296del (p.Gly433AspfsTer6) c.1278del (p.Gly427AspfsTer6) c.1242del (p.Gly415AspfsTer6) c.1221del (p.Gly408AspfsTer6) c.421+30601del (n.421+30601del) n.440+30601del n.242+37996del c.984del (p.Gly329AspfsTer6) c.1398del (p.Gly467AspfsTer6) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32293408T>A | CA363561567 | TSBP1,TSBP1-AS1 | c.1259A>T (p.Lys420Ile) c.1262A>T (p.Lys421Ile) c.1238A>T (p.Lys413Ile) c.1265A>T (p.Lys422Ile) c.1217A>T (p.Lys406Ile) c.1250A>T (p.Lys417Ile) c.1319A>T (p.Lys440Ile) c.1298A>T (p.Lys433Ile) c.1295A>T (p.Lys432Ile) c.1277A>T (p.Lys426Ile) c.1241A>T (p.Lys414Ile) c.1220A>T (p.Lys407Ile) c.421+30599T>A (n.421+30599T>A) n.440+30599T>A n.242+37994T>A c.983A>T (p.Lys328Ile) c.1397A>T (p.Lys466Ile) | |
6 | g.32293408T>C | CA363561566 | TSBP1,TSBP1-AS1 | c.1259A>G (p.Lys420Arg) c.1262A>G (p.Lys421Arg) c.1238A>G (p.Lys413Arg) c.1265A>G (p.Lys422Arg) c.1217A>G (p.Lys406Arg) c.1250A>G (p.Lys417Arg) c.1319A>G (p.Lys440Arg) c.1298A>G (p.Lys433Arg) c.1295A>G (p.Lys432Arg) c.1277A>G (p.Lys426Arg) c.1241A>G (p.Lys414Arg) c.1220A>G (p.Lys407Arg) c.421+30599T>C (n.421+30599T>C) n.440+30599T>C n.242+37994T>C c.983A>G (p.Lys328Arg) c.1397A>G (p.Lys466Arg) | |
6 | g.32293408T>G | CA363561565 | TSBP1,TSBP1-AS1 | c.1259A>C (p.Lys420Thr) c.1262A>C (p.Lys421Thr) c.1238A>C (p.Lys413Thr) c.1265A>C (p.Lys422Thr) c.1217A>C (p.Lys406Thr) c.1250A>C (p.Lys417Thr) c.1319A>C (p.Lys440Thr) c.1298A>C (p.Lys433Thr) c.1295A>C (p.Lys432Thr) c.1277A>C (p.Lys426Thr) c.1241A>C (p.Lys414Thr) c.1220A>C (p.Lys407Thr) c.421+30599T>G (n.421+30599T>G) n.440+30599T>G n.242+37994T>G c.983A>C (p.Lys328Thr) c.1397A>C (p.Lys466Thr) | |
6 | g.32293409T>A | CA363561568 | TSBP1,TSBP1-AS1 | c.1258A>T (p.Lys420Ter) c.1261A>T (p.Lys421Ter) c.1237A>T (p.Lys413Ter) c.1264A>T (p.Lys422Ter) c.1216A>T (p.Lys406Ter) c.1249A>T (p.Lys417Ter) c.1318A>T (p.Lys440Ter) c.1297A>T (p.Lys433Ter) c.1294A>T (p.Lys432Ter) c.1276A>T (p.Lys426Ter) c.1240A>T (p.Lys414Ter) c.1219A>T (p.Lys407Ter) c.421+30600T>A (n.421+30600T>A) n.440+30600T>A n.242+37995T>A c.982A>T (p.Lys328Ter) c.1396A>T (p.Lys466Ter) | |
6 | g.32293409T>C | CA136929566 | TSBP1,TSBP1-AS1 | c.1258A>G (p.Lys420Glu) c.1261A>G (p.Lys421Glu) c.1237A>G (p.Lys413Glu) c.1264A>G (p.Lys422Glu) c.1216A>G (p.Lys406Glu) c.1249A>G (p.Lys417Glu) c.1318A>G (p.Lys440Glu) c.1297A>G (p.Lys433Glu) c.1294A>G (p.Lys432Glu) c.1276A>G (p.Lys426Glu) c.1240A>G (p.Lys414Glu) c.1219A>G (p.Lys407Glu) c.421+30600T>C (n.421+30600T>C) n.440+30600T>C n.242+37995T>C c.982A>G (p.Lys328Glu) c.1396A>G (p.Lys466Glu) | dbSNP gnomAD v4 |
6 | g.32293409T>G | CA363561569 | TSBP1,TSBP1-AS1 | c.1258A>C (p.Lys420Gln) c.1261A>C (p.Lys421Gln) c.1237A>C (p.Lys413Gln) c.1264A>C (p.Lys422Gln) c.1216A>C (p.Lys406Gln) c.1249A>C (p.Lys417Gln) c.1318A>C (p.Lys440Gln) c.1297A>C (p.Lys433Gln) c.1294A>C (p.Lys432Gln) c.1276A>C (p.Lys426Gln) c.1240A>C (p.Lys414Gln) c.1219A>C (p.Lys407Gln) c.421+30600T>G (n.421+30600T>G) n.440+30600T>G n.242+37995T>G c.982A>C (p.Lys328Gln) c.1396A>C (p.Lys466Gln) | |
6 | g.32293409T= | CA1619500820 | TSBP1,TSBP1-AS1 | c.1258A= (p.Lys420=) c.1261A= (p.Lys421=) c.1237A= (p.Lys413=) c.1264A= (p.Lys422=) c.1216A= (p.Lys406=) c.1249A= (p.Lys417=) c.1318A= (p.Lys440=) c.1297A= (p.Lys433=) c.1294A= (p.Lys432=) c.1276A= (p.Lys426=) c.1240A= (p.Lys414=) c.1219A= (p.Lys407=) c.421+30600T= (n.421+30600T=) n.440+30600T= n.242+37995T= c.982A= (p.Lys328=) c.1396A= (p.Lys466=) | |
6 | g.32293410T>A | CA449829497 | TSBP1,TSBP1-AS1 | c.1257A>T (p.Pro419=) c.1260A>T (p.Pro420=) c.1236A>T (p.Pro412=) c.1263A>T (p.Pro421=) c.1215A>T (p.Pro405=) c.1248A>T (p.Pro416=) c.1317A>T (p.Pro439=) c.1296A>T (p.Pro432=) c.1293A>T (p.Pro431=) c.1275A>T (p.Pro425=) c.1239A>T (p.Pro413=) c.1218A>T (p.Pro406=) c.421+30601T>A (n.421+30601T>A) n.440+30601T>A n.242+37996T>A c.981A>T (p.Pro327=) c.1395A>T (p.Pro465=) | |
6 | g.32293410T>C | CA449829499 | TSBP1,TSBP1-AS1 | c.1257A>G (p.Pro419=) c.1260A>G (p.Pro420=) c.1236A>G (p.Pro412=) c.1263A>G (p.Pro421=) c.1215A>G (p.Pro405=) c.1248A>G (p.Pro416=) c.1317A>G (p.Pro439=) c.1296A>G (p.Pro432=) c.1293A>G (p.Pro431=) c.1275A>G (p.Pro425=) c.1239A>G (p.Pro413=) c.1218A>G (p.Pro406=) c.421+30601T>C (n.421+30601T>C) n.440+30601T>C n.242+37996T>C c.981A>G (p.Pro327=) c.1395A>G (p.Pro465=) | |
6 | g.32293410T>G | CA449829500 | TSBP1,TSBP1-AS1 | c.1257A>C (p.Pro419=) c.1260A>C (p.Pro420=) c.1236A>C (p.Pro412=) c.1263A>C (p.Pro421=) c.1215A>C (p.Pro405=) c.1248A>C (p.Pro416=) c.1317A>C (p.Pro439=) c.1296A>C (p.Pro432=) c.1293A>C (p.Pro431=) c.1275A>C (p.Pro425=) c.1239A>C (p.Pro413=) c.1218A>C (p.Pro406=) c.421+30601T>G (n.421+30601T>G) n.440+30601T>G n.242+37996T>G c.981A>C (p.Pro327=) c.1395A>C (p.Pro465=) | |
6 | g.32293411G>A | CA363561570 | TSBP1,TSBP1-AS1 | c.1256C>T (p.Pro419Leu) c.1259C>T (p.Pro420Leu) c.1235C>T (p.Pro412Leu) c.1262C>T (p.Pro421Leu) c.1214C>T (p.Pro405Leu) c.1247C>T (p.Pro416Leu) c.1316C>T (p.Pro439Leu) c.1295C>T (p.Pro432Leu) c.1292C>T (p.Pro431Leu) c.1274C>T (p.Pro425Leu) c.1238C>T (p.Pro413Leu) c.1217C>T (p.Pro406Leu) c.421+30602G>A (n.421+30602G>A) n.440+30602G>A n.242+37997G>A c.980C>T (p.Pro327Leu) c.1394C>T (p.Pro465Leu) | |
6 | g.32293411G>C | CA363561571 | TSBP1,TSBP1-AS1 | c.1256C>G (p.Pro419Arg) c.1259C>G (p.Pro420Arg) c.1235C>G (p.Pro412Arg) c.1262C>G (p.Pro421Arg) c.1214C>G (p.Pro405Arg) c.1247C>G (p.Pro416Arg) c.1316C>G (p.Pro439Arg) c.1295C>G (p.Pro432Arg) c.1292C>G (p.Pro431Arg) c.1274C>G (p.Pro425Arg) c.1238C>G (p.Pro413Arg) c.1217C>G (p.Pro406Arg) c.421+30602G>C (n.421+30602G>C) n.440+30602G>C n.242+37997G>C c.980C>G (p.Pro327Arg) c.1394C>G (p.Pro465Arg) | |
6 | g.32293411G>T | CA363561572 | TSBP1,TSBP1-AS1 | c.1256C>A (p.Pro419Gln) c.1259C>A (p.Pro420Gln) c.1235C>A (p.Pro412Gln) c.1262C>A (p.Pro421Gln) c.1214C>A (p.Pro405Gln) c.1247C>A (p.Pro416Gln) c.1316C>A (p.Pro439Gln) c.1295C>A (p.Pro432Gln) c.1292C>A (p.Pro431Gln) c.1274C>A (p.Pro425Gln) c.1238C>A (p.Pro413Gln) c.1217C>A (p.Pro406Gln) c.421+30602G>T (n.421+30602G>T) n.440+30602G>T n.242+37997G>T c.980C>A (p.Pro327Gln) c.1394C>A (p.Pro465Gln) | |
6 | g.32293412del | CA2711370648 | TSBP1,TSBP1-AS1 | c.1256del (p.Pro419GlnfsTer8) c.1259del (p.Pro420GlnfsTer8) c.1235del (p.Pro412GlnfsTer8) c.1262del (p.Pro421GlnfsTer8) c.1214del (p.Pro405GlnfsTer8) c.1247del (p.Pro416GlnfsTer8) c.1316del (p.Pro439GlnfsTer8) c.1295del (p.Pro432GlnfsTer8) c.1292del (p.Pro431GlnfsTer8) c.1274del (p.Pro425GlnfsTer8) c.1238del (p.Pro413GlnfsTer8) c.1217del (p.Pro406GlnfsTer8) c.421+30603del (n.421+30603del) n.440+30603del n.242+37998del c.980del (p.Pro327GlnfsTer8) c.1394del (p.Pro465GlnfsTer8) | dbSNP |
6 | g.32293412G>A | CA363561573 | TSBP1,TSBP1-AS1 | c.1255C>T (p.Pro419Ser) c.1258C>T (p.Pro420Ser) c.1234C>T (p.Pro412Ser) c.1261C>T (p.Pro421Ser) c.1213C>T (p.Pro405Ser) c.1246C>T (p.Pro416Ser) c.1315C>T (p.Pro439Ser) c.1294C>T (p.Pro432Ser) c.1291C>T (p.Pro431Ser) c.1273C>T (p.Pro425Ser) c.1237C>T (p.Pro413Ser) c.1216C>T (p.Pro406Ser) c.421+30603G>A (n.421+30603G>A) n.440+30603G>A n.242+37998G>A c.979C>T (p.Pro327Ser) c.1393C>T (p.Pro465Ser) | |
6 | g.32293412G>C | CA363561574 | TSBP1,TSBP1-AS1 | c.1255C>G (p.Pro419Ala) c.1258C>G (p.Pro420Ala) c.1234C>G (p.Pro412Ala) c.1261C>G (p.Pro421Ala) c.1213C>G (p.Pro405Ala) c.1246C>G (p.Pro416Ala) c.1315C>G (p.Pro439Ala) c.1294C>G (p.Pro432Ala) c.1291C>G (p.Pro431Ala) c.1273C>G (p.Pro425Ala) c.1237C>G (p.Pro413Ala) c.1216C>G (p.Pro406Ala) c.421+30603G>C (n.421+30603G>C) n.440+30603G>C n.242+37998G>C c.979C>G (p.Pro327Ala) c.1393C>G (p.Pro465Ala) | |
6 | g.32293412G>T | CA363561575 | TSBP1,TSBP1-AS1 | c.1255C>A (p.Pro419Thr) c.1258C>A (p.Pro420Thr) c.1234C>A (p.Pro412Thr) c.1261C>A (p.Pro421Thr) c.1213C>A (p.Pro405Thr) c.1246C>A (p.Pro416Thr) c.1315C>A (p.Pro439Thr) c.1294C>A (p.Pro432Thr) c.1291C>A (p.Pro431Thr) c.1273C>A (p.Pro425Thr) c.1237C>A (p.Pro413Thr) c.1216C>A (p.Pro406Thr) c.421+30603G>T (n.421+30603G>T) n.440+30603G>T n.242+37998G>T c.979C>A (p.Pro327Thr) c.1393C>A (p.Pro465Thr) | COSMIC |
6 | g.32293413T>A | CA449829506 | TSBP1,TSBP1-AS1 | c.1254A>T (p.Val418=) c.1257A>T (p.Val419=) c.1233A>T (p.Val411=) c.1260A>T (p.Val420=) c.1212A>T (p.Val404=) c.1245A>T (p.Val415=) c.1314A>T (p.Val438=) c.1293A>T (p.Val431=) c.1290A>T (p.Val430=) c.1272A>T (p.Val424=) c.1236A>T (p.Val412=) c.1215A>T (p.Val405=) c.421+30604T>A (n.421+30604T>A) n.440+30604T>A n.242+37999T>A c.978A>T (p.Val326=) c.1392A>T (p.Val464=) | |
6 | g.32293413T>C | CA449829508 | TSBP1,TSBP1-AS1 | c.1254A>G (p.Val418=) c.1257A>G (p.Val419=) c.1233A>G (p.Val411=) c.1260A>G (p.Val420=) c.1212A>G (p.Val404=) c.1245A>G (p.Val415=) c.1314A>G (p.Val438=) c.1293A>G (p.Val431=) c.1290A>G (p.Val430=) c.1272A>G (p.Val424=) c.1236A>G (p.Val412=) c.1215A>G (p.Val405=) c.421+30604T>C (n.421+30604T>C) n.440+30604T>C n.242+37999T>C c.978A>G (p.Val326=) c.1392A>G (p.Val464=) | |
6 | g.32293413T>G | CA449829509 | TSBP1,TSBP1-AS1 | c.1254A>C (p.Val418=) c.1257A>C (p.Val419=) c.1233A>C (p.Val411=) c.1260A>C (p.Val420=) c.1212A>C (p.Val404=) c.1245A>C (p.Val415=) c.1314A>C (p.Val438=) c.1293A>C (p.Val431=) c.1290A>C (p.Val430=) c.1272A>C (p.Val424=) c.1236A>C (p.Val412=) c.1215A>C (p.Val405=) c.421+30604T>G (n.421+30604T>G) n.440+30604T>G n.242+37999T>G c.978A>C (p.Val326=) c.1392A>C (p.Val464=) | |
6 | g.32293414A= | CA1619500821 | TSBP1,TSBP1-AS1 | c.1253T= (p.Val418=) c.1256T= (p.Val419=) c.1232T= (p.Val411=) c.1259T= (p.Val420=) c.1211T= (p.Val404=) c.1244T= (p.Val415=) c.1313T= (p.Val438=) c.1292T= (p.Val431=) c.1289T= (p.Val430=) c.1271T= (p.Val424=) c.1235T= (p.Val412=) c.1214T= (p.Val405=) c.421+30605A= (n.421+30605A=) n.440+30605A= n.242+38000A= c.977T= (p.Val326=) c.1391T= (p.Val464=) | |
6 | g.32293414A>C | CA3740504 | TSBP1,TSBP1-AS1 | c.1253T>G (p.Val418Gly) c.1256T>G (p.Val419Gly) c.1232T>G (p.Val411Gly) c.1259T>G (p.Val420Gly) c.1211T>G (p.Val404Gly) c.1244T>G (p.Val415Gly) c.1313T>G (p.Val438Gly) c.1292T>G (p.Val431Gly) c.1289T>G (p.Val430Gly) c.1271T>G (p.Val424Gly) c.1235T>G (p.Val412Gly) c.1214T>G (p.Val405Gly) c.421+30605A>C (n.421+30605A>C) n.440+30605A>C n.242+38000A>C c.977T>G (p.Val326Gly) c.1391T>G (p.Val464Gly) | dbSNP ExAC gnomAD v2 |
6 | g.32293414A>G | CA363561576 | TSBP1,TSBP1-AS1 | c.1253T>C (p.Val418Ala) c.1256T>C (p.Val419Ala) c.1232T>C (p.Val411Ala) c.1259T>C (p.Val420Ala) c.1211T>C (p.Val404Ala) c.1244T>C (p.Val415Ala) c.1313T>C (p.Val438Ala) c.1292T>C (p.Val431Ala) c.1289T>C (p.Val430Ala) c.1271T>C (p.Val424Ala) c.1235T>C (p.Val412Ala) c.1214T>C (p.Val405Ala) c.421+30605A>G (n.421+30605A>G) n.440+30605A>G n.242+38000A>G c.977T>C (p.Val326Ala) c.1391T>C (p.Val464Ala) | |
6 | g.32293414A>T | CA363561577 | TSBP1,TSBP1-AS1 | c.1253T>A (p.Val418Glu) c.1256T>A (p.Val419Glu) c.1232T>A (p.Val411Glu) c.1259T>A (p.Val420Glu) c.1211T>A (p.Val404Glu) c.1244T>A (p.Val415Glu) c.1313T>A (p.Val438Glu) c.1292T>A (p.Val431Glu) c.1289T>A (p.Val430Glu) c.1271T>A (p.Val424Glu) c.1235T>A (p.Val412Glu) c.1214T>A (p.Val405Glu) c.421+30605A>T (n.421+30605A>T) n.440+30605A>T n.242+38000A>T c.977T>A (p.Val326Glu) c.1391T>A (p.Val464Glu) | |
6 | g.32293415C>A | CA3740505 | TSBP1,TSBP1-AS1 | c.1252G>T (p.Val418Leu) c.1255G>T (p.Val419Leu) c.1231G>T (p.Val411Leu) c.1258G>T (p.Val420Leu) c.1210G>T (p.Val404Leu) c.1243G>T (p.Val415Leu) c.1312G>T (p.Val438Leu) c.1291G>T (p.Val431Leu) c.1288G>T (p.Val430Leu) c.1270G>T (p.Val424Leu) c.1234G>T (p.Val412Leu) c.1213G>T (p.Val405Leu) c.421+30606C>A (n.421+30606C>A) n.440+30606C>A n.242+38001C>A c.976G>T (p.Val326Leu) c.1390G>T (p.Val464Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32293415C= | CA1619500822 | TSBP1,TSBP1-AS1 | c.1252G= (p.Val418=) c.1255G= (p.Val419=) c.1231G= (p.Val411=) c.1258G= (p.Val420=) c.1210G= (p.Val404=) c.1243G= (p.Val415=) c.1312G= (p.Val438=) c.1291G= (p.Val431=) c.1288G= (p.Val430=) c.1270G= (p.Val424=) c.1234G= (p.Val412=) c.1213G= (p.Val405=) c.421+30606C= (n.421+30606C=) n.440+30606C= n.242+38001C= c.976G= (p.Val326=) c.1390G= (p.Val464=) | |
6 | g.32293415C>G | CA363561579 | TSBP1,TSBP1-AS1 | c.1252G>C (p.Val418Leu) c.1255G>C (p.Val419Leu) c.1231G>C (p.Val411Leu) c.1258G>C (p.Val420Leu) c.1210G>C (p.Val404Leu) c.1243G>C (p.Val415Leu) c.1312G>C (p.Val438Leu) c.1291G>C (p.Val431Leu) c.1288G>C (p.Val430Leu) c.1270G>C (p.Val424Leu) c.1234G>C (p.Val412Leu) c.1213G>C (p.Val405Leu) c.421+30606C>G (n.421+30606C>G) n.440+30606C>G n.242+38001C>G c.976G>C (p.Val326Leu) c.1390G>C (p.Val464Leu) | gnomAD v4 |
6 | g.32293415C>T | CA363561578 | TSBP1,TSBP1-AS1 | c.1252G>A (p.Val418Ile) c.1255G>A (p.Val419Ile) c.1231G>A (p.Val411Ile) c.1258G>A (p.Val420Ile) c.1210G>A (p.Val404Ile) c.1243G>A (p.Val415Ile) c.1312G>A (p.Val438Ile) c.1291G>A (p.Val431Ile) c.1288G>A (p.Val430Ile) c.1270G>A (p.Val424Ile) c.1234G>A (p.Val412Ile) c.1213G>A (p.Val405Ile) c.421+30606C>T (n.421+30606C>T) n.440+30606C>T n.242+38001C>T c.976G>A (p.Val326Ile) c.1390G>A (p.Val464Ile) | gnomAD v4 |
6 | g.32293416C>A | CA363561580 | TSBP1,TSBP1-AS1 | c.1251G>T (p.Lys417Asn) c.1254G>T (p.Lys418Asn) c.1230G>T (p.Lys410Asn) c.1257G>T (p.Lys419Asn) c.1209G>T (p.Lys403Asn) c.1242G>T (p.Lys414Asn) c.1311G>T (p.Lys437Asn) c.1290G>T (p.Lys430Asn) c.1287G>T (p.Lys429Asn) c.1269G>T (p.Lys423Asn) c.1233G>T (p.Lys411Asn) c.1212G>T (p.Lys404Asn) c.421+30607C>A (n.421+30607C>A) n.440+30607C>A n.242+38002C>A c.975G>T (p.Lys325Asn) c.1389G>T (p.Lys463Asn) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.32293416C= | CA1619500823 | TSBP1,TSBP1-AS1 | c.1251G= (p.Lys417=) c.1254G= (p.Lys418=) c.1230G= (p.Lys410=) c.1257G= (p.Lys419=) c.1209G= (p.Lys403=) c.1242G= (p.Lys414=) c.1311G= (p.Lys437=) c.1290G= (p.Lys430=) c.1287G= (p.Lys429=) c.1269G= (p.Lys423=) c.1233G= (p.Lys411=) c.1212G= (p.Lys404=) c.421+30607C= (n.421+30607C=) n.440+30607C= n.242+38002C= c.975G= (p.Lys325=) c.1389G= (p.Lys463=) | |
6 | g.32293416C>G | CA363561581 | TSBP1,TSBP1-AS1 | c.1251G>C (p.Lys417Asn) c.1254G>C (p.Lys418Asn) c.1230G>C (p.Lys410Asn) c.1257G>C (p.Lys419Asn) c.1209G>C (p.Lys403Asn) c.1242G>C (p.Lys414Asn) c.1311G>C (p.Lys437Asn) c.1290G>C (p.Lys430Asn) c.1287G>C (p.Lys429Asn) c.1269G>C (p.Lys423Asn) c.1233G>C (p.Lys411Asn) c.1212G>C (p.Lys404Asn) c.421+30607C>G (n.421+30607C>G) n.440+30607C>G n.242+38002C>G c.975G>C (p.Lys325Asn) c.1389G>C (p.Lys463Asn) | |
6 | g.32293416C>T | CA449829514 | TSBP1,TSBP1-AS1 | c.1251G>A (p.Lys417=) c.1254G>A (p.Lys418=) c.1230G>A (p.Lys410=) c.1257G>A (p.Lys419=) c.1209G>A (p.Lys403=) c.1242G>A (p.Lys414=) c.1311G>A (p.Lys437=) c.1290G>A (p.Lys430=) c.1287G>A (p.Lys429=) c.1269G>A (p.Lys423=) c.1233G>A (p.Lys411=) c.1212G>A (p.Lys404=) c.421+30607C>T (n.421+30607C>T) n.440+30607C>T n.242+38002C>T c.975G>A (p.Lys325=) c.1389G>A (p.Lys463=) | gnomAD v4 |
6 | g.32293417T>A | CA363561582 | TSBP1,TSBP1-AS1 | c.1250A>T (p.Lys417Met) c.1253A>T (p.Lys418Met) c.1229A>T (p.Lys410Met) c.1256A>T (p.Lys419Met) c.1208A>T (p.Lys403Met) c.1241A>T (p.Lys414Met) c.1310A>T (p.Lys437Met) c.1289A>T (p.Lys430Met) c.1286A>T (p.Lys429Met) c.1268A>T (p.Lys423Met) c.1232A>T (p.Lys411Met) c.1211A>T (p.Lys404Met) c.421+30608T>A (n.421+30608T>A) n.440+30608T>A n.242+38003T>A c.974A>T (p.Lys325Met) c.1388A>T (p.Lys463Met) | |
6 | g.32293417T>C | CA363561583 | TSBP1,TSBP1-AS1 | c.1250A>G (p.Lys417Arg) c.1253A>G (p.Lys418Arg) c.1229A>G (p.Lys410Arg) c.1256A>G (p.Lys419Arg) c.1208A>G (p.Lys403Arg) c.1241A>G (p.Lys414Arg) c.1310A>G (p.Lys437Arg) c.1289A>G (p.Lys430Arg) c.1286A>G (p.Lys429Arg) c.1268A>G (p.Lys423Arg) c.1232A>G (p.Lys411Arg) c.1211A>G (p.Lys404Arg) c.421+30608T>C (n.421+30608T>C) n.440+30608T>C n.242+38003T>C c.974A>G (p.Lys325Arg) c.1388A>G (p.Lys463Arg) | |
6 | g.32293417T>G | CA363561584 | TSBP1,TSBP1-AS1 | c.1250A>C (p.Lys417Thr) c.1253A>C (p.Lys418Thr) c.1229A>C (p.Lys410Thr) c.1256A>C (p.Lys419Thr) c.1208A>C (p.Lys403Thr) c.1241A>C (p.Lys414Thr) c.1310A>C (p.Lys437Thr) c.1289A>C (p.Lys430Thr) c.1286A>C (p.Lys429Thr) c.1268A>C (p.Lys423Thr) c.1232A>C (p.Lys411Thr) c.1211A>C (p.Lys404Thr) c.421+30608T>G (n.421+30608T>G) n.440+30608T>G n.242+38003T>G c.974A>C (p.Lys325Thr) c.1388A>C (p.Lys463Thr) | |
6 | g.32293418T>A | CA363561585 | TSBP1,TSBP1-AS1 | c.1249A>T (p.Lys417Ter) c.1252A>T (p.Lys418Ter) c.1228A>T (p.Lys410Ter) c.1255A>T (p.Lys419Ter) c.1207A>T (p.Lys403Ter) c.1240A>T (p.Lys414Ter) c.1309A>T (p.Lys437Ter) c.1288A>T (p.Lys430Ter) c.1285A>T (p.Lys429Ter) c.1267A>T (p.Lys423Ter) c.1231A>T (p.Lys411Ter) c.1210A>T (p.Lys404Ter) c.421+30609T>A (n.421+30609T>A) n.440+30609T>A n.242+38004T>A c.973A>T (p.Lys325Ter) c.1387A>T (p.Lys463Ter) | |
6 | g.32293418T>C | CA363561586 | TSBP1,TSBP1-AS1 | c.1249A>G (p.Lys417Glu) c.1252A>G (p.Lys418Glu) c.1228A>G (p.Lys410Glu) c.1255A>G (p.Lys419Glu) c.1207A>G (p.Lys403Glu) c.1240A>G (p.Lys414Glu) c.1309A>G (p.Lys437Glu) c.1288A>G (p.Lys430Glu) c.1285A>G (p.Lys429Glu) c.1267A>G (p.Lys423Glu) c.1231A>G (p.Lys411Glu) c.1210A>G (p.Lys404Glu) c.421+30609T>C (n.421+30609T>C) n.440+30609T>C n.242+38004T>C c.973A>G (p.Lys325Glu) c.1387A>G (p.Lys463Glu) | |
6 | g.32293418T>G | CA363561587 | TSBP1,TSBP1-AS1 | c.1249A>C (p.Lys417Gln) c.1252A>C (p.Lys418Gln) c.1228A>C (p.Lys410Gln) c.1255A>C (p.Lys419Gln) c.1207A>C (p.Lys403Gln) c.1240A>C (p.Lys414Gln) c.1309A>C (p.Lys437Gln) c.1288A>C (p.Lys430Gln) c.1285A>C (p.Lys429Gln) c.1267A>C (p.Lys423Gln) c.1231A>C (p.Lys411Gln) c.1210A>C (p.Lys404Gln) c.421+30609T>G (n.421+30609T>G) n.440+30609T>G n.242+38004T>G c.973A>C (p.Lys325Gln) c.1387A>C (p.Lys463Gln) | |
6 | g.32293419C>A | CA363561588 | TSBP1,TSBP1-AS1 | c.1248G>T (p.Leu416Phe) c.1251G>T (p.Leu417Phe) c.1227G>T (p.Leu409Phe) c.1254G>T (p.Leu418Phe) c.1206G>T (p.Leu402Phe) c.1239G>T (p.Leu413Phe) c.1308G>T (p.Leu436Phe) c.1287G>T (p.Leu429Phe) c.1284G>T (p.Leu428Phe) c.1266G>T (p.Leu422Phe) c.1230G>T (p.Leu410Phe) c.1209G>T (p.Leu403Phe) c.421+30610C>A (n.421+30610C>A) n.440+30610C>A n.242+38005C>A c.972G>T (p.Leu324Phe) c.1386G>T (p.Leu462Phe) | |
6 | g.32293419C>G | CA363561589 | TSBP1,TSBP1-AS1 | c.1248G>C (p.Leu416Phe) c.1251G>C (p.Leu417Phe) c.1227G>C (p.Leu409Phe) c.1254G>C (p.Leu418Phe) c.1206G>C (p.Leu402Phe) c.1239G>C (p.Leu413Phe) c.1308G>C (p.Leu436Phe) c.1287G>C (p.Leu429Phe) c.1284G>C (p.Leu428Phe) c.1266G>C (p.Leu422Phe) c.1230G>C (p.Leu410Phe) c.1209G>C (p.Leu403Phe) c.421+30610C>G (n.421+30610C>G) n.440+30610C>G n.242+38005C>G c.972G>C (p.Leu324Phe) c.1386G>C (p.Leu462Phe) | |
6 | g.32293419C>T | CA449829518 | TSBP1,TSBP1-AS1 | c.1248G>A (p.Leu416=) c.1251G>A (p.Leu417=) c.1227G>A (p.Leu409=) c.1254G>A (p.Leu418=) c.1206G>A (p.Leu402=) c.1239G>A (p.Leu413=) c.1308G>A (p.Leu436=) c.1287G>A (p.Leu429=) c.1284G>A (p.Leu428=) c.1266G>A (p.Leu422=) c.1230G>A (p.Leu410=) c.1209G>A (p.Leu403=) c.421+30610C>T (n.421+30610C>T) n.440+30610C>T n.242+38005C>T c.972G>A (p.Leu324=) c.1386G>A (p.Leu462=) | |
6 | g.32293420A>C | CA363561590 | TSBP1,TSBP1-AS1 | c.1247T>G (p.Leu416Trp) c.1250T>G (p.Leu417Trp) c.1226T>G (p.Leu409Trp) c.1253T>G (p.Leu418Trp) c.1205T>G (p.Leu402Trp) c.1238T>G (p.Leu413Trp) c.1307T>G (p.Leu436Trp) c.1286T>G (p.Leu429Trp) c.1283T>G (p.Leu428Trp) c.1265T>G (p.Leu422Trp) c.1229T>G (p.Leu410Trp) c.1208T>G (p.Leu403Trp) c.421+30611A>C (n.421+30611A>C) n.440+30611A>C n.242+38006A>C c.971T>G (p.Leu324Trp) c.1385T>G (p.Leu462Trp) | |
6 | g.32293420A>G | CA363561591 | TSBP1,TSBP1-AS1 | c.1247T>C (p.Leu416Ser) c.1250T>C (p.Leu417Ser) c.1226T>C (p.Leu409Ser) c.1253T>C (p.Leu418Ser) c.1205T>C (p.Leu402Ser) c.1238T>C (p.Leu413Ser) c.1307T>C (p.Leu436Ser) c.1286T>C (p.Leu429Ser) c.1283T>C (p.Leu428Ser) c.1265T>C (p.Leu422Ser) c.1229T>C (p.Leu410Ser) c.1208T>C (p.Leu403Ser) c.421+30611A>G (n.421+30611A>G) n.440+30611A>G n.242+38006A>G c.971T>C (p.Leu324Ser) c.1385T>C (p.Leu462Ser) | gnomAD v4 |
6 | g.32293420A>T | CA363561592 | TSBP1,TSBP1-AS1 | c.1247T>A (p.Leu416Ter) c.1250T>A (p.Leu417Ter) c.1226T>A (p.Leu409Ter) c.1253T>A (p.Leu418Ter) c.1205T>A (p.Leu402Ter) c.1238T>A (p.Leu413Ter) c.1307T>A (p.Leu436Ter) c.1286T>A (p.Leu429Ter) c.1283T>A (p.Leu428Ter) c.1265T>A (p.Leu422Ter) c.1229T>A (p.Leu410Ter) c.1208T>A (p.Leu403Ter) c.421+30611A>T (n.421+30611A>T) n.440+30611A>T n.242+38006A>T c.971T>A (p.Leu324Ter) c.1385T>A (p.Leu462Ter) | |
6 | g.32293421A= | CA1619500824 | TSBP1,TSBP1-AS1 | c.1246T= (p.Leu416=) c.1249T= (p.Leu417=) c.1225T= (p.Leu409=) c.1252T= (p.Leu418=) c.1204T= (p.Leu402=) c.1237T= (p.Leu413=) c.1306T= (p.Leu436=) c.1285T= (p.Leu429=) c.1282T= (p.Leu428=) c.1264T= (p.Leu422=) c.1228T= (p.Leu410=) c.1207T= (p.Leu403=) c.421+30612A= (n.421+30612A=) n.440+30612A= n.242+38007A= c.970T= (p.Leu324=) c.1384T= (p.Leu462=) | |
6 | g.32293421A>C | CA363561594 | TSBP1,TSBP1-AS1 | c.1246T>G (p.Leu416Val) c.1249T>G (p.Leu417Val) c.1225T>G (p.Leu409Val) c.1252T>G (p.Leu418Val) c.1204T>G (p.Leu402Val) c.1237T>G (p.Leu413Val) c.1306T>G (p.Leu436Val) c.1285T>G (p.Leu429Val) c.1282T>G (p.Leu428Val) c.1264T>G (p.Leu422Val) c.1228T>G (p.Leu410Val) c.1207T>G (p.Leu403Val) c.421+30612A>C (n.421+30612A>C) n.440+30612A>C n.242+38007A>C c.970T>G (p.Leu324Val) c.1384T>G (p.Leu462Val) | |
6 | g.32293421A>G | CA3740506 | TSBP1,TSBP1-AS1 | c.1246T>C (p.Leu416=) c.1249T>C (p.Leu417=) c.1225T>C (p.Leu409=) c.1252T>C (p.Leu418=) c.1204T>C (p.Leu402=) c.1237T>C (p.Leu413=) c.1306T>C (p.Leu436=) c.1285T>C (p.Leu429=) c.1282T>C (p.Leu428=) c.1264T>C (p.Leu422=) c.1228T>C (p.Leu410=) c.1207T>C (p.Leu403=) c.421+30612A>G (n.421+30612A>G) n.440+30612A>G n.242+38007A>G c.970T>C (p.Leu324=) c.1384T>C (p.Leu462=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32293421A>T | CA363561593 | TSBP1,TSBP1-AS1 | c.1246T>A (p.Leu416Met) c.1249T>A (p.Leu417Met) c.1225T>A (p.Leu409Met) c.1252T>A (p.Leu418Met) c.1204T>A (p.Leu402Met) c.1237T>A (p.Leu413Met) c.1306T>A (p.Leu436Met) c.1285T>A (p.Leu429Met) c.1282T>A (p.Leu428Met) c.1264T>A (p.Leu422Met) c.1228T>A (p.Leu410Met) c.1207T>A (p.Leu403Met) c.421+30612A>T (n.421+30612A>T) n.440+30612A>T n.242+38007A>T c.970T>A (p.Leu324Met) c.1384T>A (p.Leu462Met) | gnomAD v4 |
6 | g.32293422C>A | CA363561595 | TSBP1,TSBP1-AS1 | c.1245G>T (p.Glu415Asp) c.1248G>T (p.Glu416Asp) c.1224G>T (p.Glu408Asp) c.1251G>T (p.Glu417Asp) c.1203G>T (p.Glu401Asp) c.1236G>T (p.Glu412Asp) c.1305G>T (p.Glu435Asp) c.1284G>T (p.Glu428Asp) c.1281G>T (p.Glu427Asp) c.1263G>T (p.Glu421Asp) c.1227G>T (p.Glu409Asp) c.1206G>T (p.Glu402Asp) c.421+30613C>A (n.421+30613C>A) n.440+30613C>A n.242+38008C>A c.969G>T (p.Glu323Asp) c.1383G>T (p.Glu461Asp) | |
6 | g.32293422C>G | CA363561596 | TSBP1,TSBP1-AS1 | c.1245G>C (p.Glu415Asp) c.1248G>C (p.Glu416Asp) c.1224G>C (p.Glu408Asp) c.1251G>C (p.Glu417Asp) c.1203G>C (p.Glu401Asp) c.1236G>C (p.Glu412Asp) c.1305G>C (p.Glu435Asp) c.1284G>C (p.Glu428Asp) c.1281G>C (p.Glu427Asp) c.1263G>C (p.Glu421Asp) c.1227G>C (p.Glu409Asp) c.1206G>C (p.Glu402Asp) c.421+30613C>G (n.421+30613C>G) n.440+30613C>G n.242+38008C>G c.969G>C (p.Glu323Asp) c.1383G>C (p.Glu461Asp) | |
6 | g.32293422C>T | CA449829525 | TSBP1,TSBP1-AS1 | c.1245G>A (p.Glu415=) c.1248G>A (p.Glu416=) c.1224G>A (p.Glu408=) c.1251G>A (p.Glu417=) c.1203G>A (p.Glu401=) c.1236G>A (p.Glu412=) c.1305G>A (p.Glu435=) c.1284G>A (p.Glu428=) c.1281G>A (p.Glu427=) c.1263G>A (p.Glu421=) c.1227G>A (p.Glu409=) c.1206G>A (p.Glu402=) c.421+30613C>T (n.421+30613C>T) n.440+30613C>T n.242+38008C>T c.969G>A (p.Glu323=) c.1383G>A (p.Glu461=) | |
6 | g.32293464_32293598del | CA2770535164 | TSBP1,TSBP1-AS1 | c.1111_1245del (p.Met371_Glu415del) c.1114_1248del (p.Met372_Glu416del) c.1090_1224del (p.Met364_Glu408del) c.1117_1251del (p.Met373_Glu417del) c.1069_1203del (p.Met357_Glu401del) c.1102_1236del (p.Met368_Glu412del) c.1171_1305del (p.Met391_Glu435del) c.1150_1284del (p.Met384_Glu428del) c.1147_1281del (p.Met383_Glu427del) c.1129_1263del (p.Met377_Glu421del) c.1093_1227del (p.Met365_Glu409del) c.1072_1206del (p.Met358_Glu402del) c.421+30655_421+30789del (n.421+30655_421+30789del) n.440+30655_440+30789del n.242+38050_242+38184del c.835_969del (p.Met279_Glu323del) c.1249_1383del (p.Met417_Glu461del) | |
6 | g.32293423T>A | CA363561597 | TSBP1,TSBP1-AS1 | c.1244A>T (p.Glu415Val) c.1247A>T (p.Glu416Val) c.1223A>T (p.Glu408Val) c.1250A>T (p.Glu417Val) c.1202A>T (p.Glu401Val) c.1235A>T (p.Glu412Val) c.1304A>T (p.Glu435Val) c.1283A>T (p.Glu428Val) c.1280A>T (p.Glu427Val) c.1262A>T (p.Glu421Val) c.1226A>T (p.Glu409Val) c.1205A>T (p.Glu402Val) c.421+30614T>A (n.421+30614T>A) n.440+30614T>A n.242+38009T>A c.968A>T (p.Glu323Val) c.1382A>T (p.Glu461Val) | |
6 | g.32293423T>C | CA363561598 | TSBP1,TSBP1-AS1 | c.1244A>G (p.Glu415Gly) c.1247A>G (p.Glu416Gly) c.1223A>G (p.Glu408Gly) c.1250A>G (p.Glu417Gly) c.1202A>G (p.Glu401Gly) c.1235A>G (p.Glu412Gly) c.1304A>G (p.Glu435Gly) c.1283A>G (p.Glu428Gly) c.1280A>G (p.Glu427Gly) c.1262A>G (p.Glu421Gly) c.1226A>G (p.Glu409Gly) c.1205A>G (p.Glu402Gly) c.421+30614T>C (n.421+30614T>C) n.440+30614T>C n.242+38009T>C c.968A>G (p.Glu323Gly) c.1382A>G (p.Glu461Gly) | |
6 | g.32293423T>G | CA3740507 | TSBP1,TSBP1-AS1 | c.1244A>C (p.Glu415Ala) c.1247A>C (p.Glu416Ala) c.1223A>C (p.Glu408Ala) c.1250A>C (p.Glu417Ala) c.1202A>C (p.Glu401Ala) c.1235A>C (p.Glu412Ala) c.1304A>C (p.Glu435Ala) c.1283A>C (p.Glu428Ala) c.1280A>C (p.Glu427Ala) c.1262A>C (p.Glu421Ala) c.1226A>C (p.Glu409Ala) c.1205A>C (p.Glu402Ala) c.421+30614T>G (n.421+30614T>G) n.440+30614T>G n.242+38009T>G c.968A>C (p.Glu323Ala) c.1382A>C (p.Glu461Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.32293423T= | CA1619500825 | TSBP1,TSBP1-AS1 | c.1244A= (p.Glu415=) c.1247A= (p.Glu416=) c.1223A= (p.Glu408=) c.1250A= (p.Glu417=) c.1202A= (p.Glu401=) c.1235A= (p.Glu412=) c.1304A= (p.Glu435=) c.1283A= (p.Glu428=) c.1280A= (p.Glu427=) c.1262A= (p.Glu421=) c.1226A= (p.Glu409=) c.1205A= (p.Glu402=) c.421+30614T= (n.421+30614T=) n.440+30614T= n.242+38009T= c.968A= (p.Glu323=) c.1382A= (p.Glu461=) | |
6 | g.32293424C>A | CA363561599 | TSBP1,TSBP1-AS1 | c.1243G>T (p.Glu415Ter) c.1246G>T (p.Glu416Ter) c.1222G>T (p.Glu408Ter) c.1249G>T (p.Glu417Ter) c.1201G>T (p.Glu401Ter) c.1234G>T (p.Glu412Ter) c.1303G>T (p.Glu435Ter) c.1282G>T (p.Glu428Ter) c.1279G>T (p.Glu427Ter) c.1261G>T (p.Glu421Ter) c.1225G>T (p.Glu409Ter) c.1204G>T (p.Glu402Ter) c.421+30615C>A (n.421+30615C>A) n.440+30615C>A n.242+38010C>A c.967G>T (p.Glu323Ter) c.1381G>T (p.Glu461Ter) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.32293424C= | CA1619500826 | TSBP1,TSBP1-AS1 | c.1243G= (p.Glu415=) c.1246G= (p.Glu416=) c.1222G= (p.Glu408=) c.1249G= (p.Glu417=) c.1201G= (p.Glu401=) c.1234G= (p.Glu412=) c.1303G= (p.Glu435=) c.1282G= (p.Glu428=) c.1279G= (p.Glu427=) c.1261G= (p.Glu421=) c.1225G= (p.Glu409=) c.1204G= (p.Glu402=) c.421+30615C= (n.421+30615C=) n.440+30615C= n.242+38010C= c.967G= (p.Glu323=) c.1381G= (p.Glu461=) | |
6 | g.32293424C>G | CA363561600 | TSBP1,TSBP1-AS1 | c.1243G>C (p.Glu415Gln) c.1246G>C (p.Glu416Gln) c.1222G>C (p.Glu408Gln) c.1249G>C (p.Glu417Gln) c.1201G>C (p.Glu401Gln) c.1234G>C (p.Glu412Gln) c.1303G>C (p.Glu435Gln) c.1282G>C (p.Glu428Gln) c.1279G>C (p.Glu427Gln) c.1261G>C (p.Glu421Gln) c.1225G>C (p.Glu409Gln) c.1204G>C (p.Glu402Gln) c.421+30615C>G (n.421+30615C>G) n.440+30615C>G n.242+38010C>G c.967G>C (p.Glu323Gln) c.1381G>C (p.Glu461Gln) | |
6 | g.32293424C>T | CA363561601 | TSBP1,TSBP1-AS1 | c.1243G>A (p.Glu415Lys) c.1246G>A (p.Glu416Lys) c.1222G>A (p.Glu408Lys) c.1249G>A (p.Glu417Lys) c.1201G>A (p.Glu401Lys) c.1234G>A (p.Glu412Lys) c.1303G>A (p.Glu435Lys) c.1282G>A (p.Glu428Lys) c.1279G>A (p.Glu427Lys) c.1261G>A (p.Glu421Lys) c.1225G>A (p.Glu409Lys) c.1204G>A (p.Glu402Lys) c.421+30615C>T (n.421+30615C>T) n.440+30615C>T n.242+38010C>T c.967G>A (p.Glu323Lys) c.1381G>A (p.Glu461Lys) | |
6 | g.32293425A>C | CA363561602 | TSBP1,TSBP1-AS1 | c.1242T>G (p.Ser414Arg) c.1245T>G (p.Ser415Arg) c.1221T>G (p.Ser407Arg) c.1248T>G (p.Ser416Arg) c.1200T>G (p.Ser400Arg) c.1233T>G (p.Ser411Arg) c.1302T>G (p.Ser434Arg) c.1281T>G (p.Ser427Arg) c.1278T>G (p.Ser426Arg) c.1260T>G (p.Ser420Arg) c.1224T>G (p.Ser408Arg) c.1203T>G (p.Ser401Arg) c.421+30616A>C (n.421+30616A>C) n.440+30616A>C n.242+38011A>C c.966T>G (p.Ser322Arg) c.1380T>G (p.Ser460Arg) | gnomAD v3 gnomAD v4 |
6 | g.32293425A>G | CA449829531 | TSBP1,TSBP1-AS1 | c.1242T>C (p.Ser414=) c.1245T>C (p.Ser415=) c.1221T>C (p.Ser407=) c.1248T>C (p.Ser416=) c.1200T>C (p.Ser400=) c.1233T>C (p.Ser411=) c.1302T>C (p.Ser434=) c.1281T>C (p.Ser427=) c.1278T>C (p.Ser426=) c.1260T>C (p.Ser420=) c.1224T>C (p.Ser408=) c.1203T>C (p.Ser401=) c.421+30616A>G (n.421+30616A>G) n.440+30616A>G n.242+38011A>G c.966T>C (p.Ser322=) c.1380T>C (p.Ser460=) | |
6 | g.32293425A>T | CA363561603 | TSBP1,TSBP1-AS1 | c.1242T>A (p.Ser414Arg) c.1245T>A (p.Ser415Arg) c.1221T>A (p.Ser407Arg) c.1248T>A (p.Ser416Arg) c.1200T>A (p.Ser400Arg) c.1233T>A (p.Ser411Arg) c.1302T>A (p.Ser434Arg) c.1281T>A (p.Ser427Arg) c.1278T>A (p.Ser426Arg) c.1260T>A (p.Ser420Arg) c.1224T>A (p.Ser408Arg) c.1203T>A (p.Ser401Arg) c.421+30616A>T (n.421+30616A>T) n.440+30616A>T n.242+38011A>T c.966T>A (p.Ser322Arg) c.1380T>A (p.Ser460Arg) | |
6 | g.32293426C>A | CA363561604 | TSBP1,TSBP1-AS1 | c.1241G>T (p.Ser414Ile) c.1244G>T (p.Ser415Ile) c.1220G>T (p.Ser407Ile) c.1247G>T (p.Ser416Ile) c.1199G>T (p.Ser400Ile) c.1232G>T (p.Ser411Ile) c.1301G>T (p.Ser434Ile) c.1280G>T (p.Ser427Ile) c.1277G>T (p.Ser426Ile) c.1259G>T (p.Ser420Ile) c.1223G>T (p.Ser408Ile) c.1202G>T (p.Ser401Ile) c.421+30617C>A (n.421+30617C>A) n.440+30617C>A n.242+38012C>A c.965G>T (p.Ser322Ile) c.1379G>T (p.Ser460Ile) | |
6 | g.32293426C>G | CA363561605 | TSBP1,TSBP1-AS1 | c.1241G>C (p.Ser414Thr) c.1244G>C (p.Ser415Thr) c.1220G>C (p.Ser407Thr) c.1247G>C (p.Ser416Thr) c.1199G>C (p.Ser400Thr) c.1232G>C (p.Ser411Thr) c.1301G>C (p.Ser434Thr) c.1280G>C (p.Ser427Thr) c.1277G>C (p.Ser426Thr) c.1259G>C (p.Ser420Thr) c.1223G>C (p.Ser408Thr) c.1202G>C (p.Ser401Thr) c.421+30617C>G (n.421+30617C>G) n.440+30617C>G n.242+38012C>G c.965G>C (p.Ser322Thr) c.1379G>C (p.Ser460Thr) | |
6 | g.32293426C>T | CA363561606 | TSBP1,TSBP1-AS1 | c.1241G>A (p.Ser414Asn) c.1244G>A (p.Ser415Asn) c.1220G>A (p.Ser407Asn) c.1247G>A (p.Ser416Asn) c.1199G>A (p.Ser400Asn) c.1232G>A (p.Ser411Asn) c.1301G>A (p.Ser434Asn) c.1280G>A (p.Ser427Asn) c.1277G>A (p.Ser426Asn) c.1259G>A (p.Ser420Asn) c.1223G>A (p.Ser408Asn) c.1202G>A (p.Ser401Asn) c.421+30617C>T (n.421+30617C>T) n.440+30617C>T n.242+38012C>T c.965G>A (p.Ser322Asn) c.1379G>A (p.Ser460Asn) | gnomAD v4 |
6 | g.32293427T>A | CA363561609 | TSBP1,TSBP1-AS1 | c.1240A>T (p.Ser414Cys) c.1243A>T (p.Ser415Cys) c.1219A>T (p.Ser407Cys) c.1246A>T (p.Ser416Cys) c.1198A>T (p.Ser400Cys) c.1231A>T (p.Ser411Cys) c.1300A>T (p.Ser434Cys) c.1279A>T (p.Ser427Cys) c.1276A>T (p.Ser426Cys) c.1258A>T (p.Ser420Cys) c.1222A>T (p.Ser408Cys) c.1201A>T (p.Ser401Cys) c.421+30618T>A (n.421+30618T>A) n.440+30618T>A n.242+38013T>A c.964A>T (p.Ser322Cys) c.1378A>T (p.Ser460Cys) | |
6 | g.32293427T>C | CA363561608 | TSBP1,TSBP1-AS1 | c.1240A>G (p.Ser414Gly) c.1243A>G (p.Ser415Gly) c.1219A>G (p.Ser407Gly) c.1246A>G (p.Ser416Gly) c.1198A>G (p.Ser400Gly) c.1231A>G (p.Ser411Gly) c.1300A>G (p.Ser434Gly) c.1279A>G (p.Ser427Gly) c.1276A>G (p.Ser426Gly) c.1258A>G (p.Ser420Gly) c.1222A>G (p.Ser408Gly) c.1201A>G (p.Ser401Gly) c.421+30618T>C (n.421+30618T>C) n.440+30618T>C n.242+38013T>C c.964A>G (p.Ser322Gly) c.1378A>G (p.Ser460Gly) | |
6 | g.32293427T>G | CA363561607 | TSBP1,TSBP1-AS1 | c.1240A>C (p.Ser414Arg) c.1243A>C (p.Ser415Arg) c.1219A>C (p.Ser407Arg) c.1246A>C (p.Ser416Arg) c.1198A>C (p.Ser400Arg) c.1231A>C (p.Ser411Arg) c.1300A>C (p.Ser434Arg) c.1279A>C (p.Ser427Arg) c.1276A>C (p.Ser426Arg) c.1258A>C (p.Ser420Arg) c.1222A>C (p.Ser408Arg) c.1201A>C (p.Ser401Arg) c.421+30618T>G (n.421+30618T>G) n.440+30618T>G n.242+38013T>G c.964A>C (p.Ser322Arg) c.1378A>C (p.Ser460Arg) | |
6 | g.32293428C>A | CA363561611 | TSBP1,TSBP1-AS1 | c.1239G>T (p.Lys413Asn) c.1242G>T (p.Lys414Asn) c.1218G>T (p.Lys406Asn) c.1245G>T (p.Lys415Asn) c.1197G>T (p.Lys399Asn) c.1230G>T (p.Lys410Asn) c.1299G>T (p.Lys433Asn) c.1278G>T (p.Lys426Asn) c.1275G>T (p.Lys425Asn) c.1257G>T (p.Lys419Asn) c.1221G>T (p.Lys407Asn) c.1200G>T (p.Lys400Asn) c.421+30619C>A (n.421+30619C>A) n.440+30619C>A n.242+38014C>A c.963G>T (p.Lys321Asn) c.1377G>T (p.Lys459Asn) | |
6 | g.32293428C= | CA1619500827 | TSBP1,TSBP1-AS1 | c.1239G= (p.Lys413=) c.1242G= (p.Lys414=) c.1218G= (p.Lys406=) c.1245G= (p.Lys415=) c.1197G= (p.Lys399=) c.1230G= (p.Lys410=) c.1299G= (p.Lys433=) c.1278G= (p.Lys426=) c.1275G= (p.Lys425=) c.1257G= (p.Lys419=) c.1221G= (p.Lys407=) c.1200G= (p.Lys400=) c.421+30619C= (n.421+30619C=) n.440+30619C= n.242+38014C= c.963G= (p.Lys321=) c.1377G= (p.Lys459=) | |
6 | g.32293428C>G | CA363561610 | TSBP1,TSBP1-AS1 | c.1239G>C (p.Lys413Asn) c.1242G>C (p.Lys414Asn) c.1218G>C (p.Lys406Asn) c.1245G>C (p.Lys415Asn) c.1197G>C (p.Lys399Asn) c.1230G>C (p.Lys410Asn) c.1299G>C (p.Lys433Asn) c.1278G>C (p.Lys426Asn) c.1275G>C (p.Lys425Asn) c.1257G>C (p.Lys419Asn) c.1221G>C (p.Lys407Asn) c.1200G>C (p.Lys400Asn) c.421+30619C>G (n.421+30619C>G) n.440+30619C>G n.242+38014C>G c.963G>C (p.Lys321Asn) c.1377G>C (p.Lys459Asn) | |
6 | g.32293428C>T | CA449829536 | TSBP1,TSBP1-AS1 | c.1239G>A (p.Lys413=) c.1242G>A (p.Lys414=) c.1218G>A (p.Lys406=) c.1245G>A (p.Lys415=) c.1197G>A (p.Lys399=) c.1230G>A (p.Lys410=) c.1299G>A (p.Lys433=) c.1278G>A (p.Lys426=) c.1275G>A (p.Lys425=) c.1257G>A (p.Lys419=) c.1221G>A (p.Lys407=) c.1200G>A (p.Lys400=) c.421+30619C>T (n.421+30619C>T) n.440+30619C>T n.242+38014C>T c.963G>A (p.Lys321=) c.1377G>A (p.Lys459=) | dbSNP |
6 | g.32293429T>A | CA363561613 | TSBP1,TSBP1-AS1 | c.1238A>T (p.Lys413Met) c.1241A>T (p.Lys414Met) c.1217A>T (p.Lys406Met) c.1244A>T (p.Lys415Met) c.1196A>T (p.Lys399Met) c.1229A>T (p.Lys410Met) c.1298A>T (p.Lys433Met) c.1277A>T (p.Lys426Met) c.1274A>T (p.Lys425Met) c.1256A>T (p.Lys419Met) c.1220A>T (p.Lys407Met) c.1199A>T (p.Lys400Met) c.421+30620T>A (n.421+30620T>A) n.440+30620T>A n.242+38015T>A c.962A>T (p.Lys321Met) c.1376A>T (p.Lys459Met) | |
6 | g.32293429T>C | CA363561612 | TSBP1,TSBP1-AS1 | c.1238A>G (p.Lys413Arg) c.1241A>G (p.Lys414Arg) c.1217A>G (p.Lys406Arg) c.1244A>G (p.Lys415Arg) c.1196A>G (p.Lys399Arg) c.1229A>G (p.Lys410Arg) c.1298A>G (p.Lys433Arg) c.1277A>G (p.Lys426Arg) c.1274A>G (p.Lys425Arg) c.1256A>G (p.Lys419Arg) c.1220A>G (p.Lys407Arg) c.1199A>G (p.Lys400Arg) c.421+30620T>C (n.421+30620T>C) n.440+30620T>C n.242+38015T>C c.962A>G (p.Lys321Arg) c.1376A>G (p.Lys459Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32293429T>G | CA363561614 | TSBP1,TSBP1-AS1 | c.1238A>C (p.Lys413Thr) c.1241A>C (p.Lys414Thr) c.1217A>C (p.Lys406Thr) c.1244A>C (p.Lys415Thr) c.1196A>C (p.Lys399Thr) c.1229A>C (p.Lys410Thr) c.1298A>C (p.Lys433Thr) c.1277A>C (p.Lys426Thr) c.1274A>C (p.Lys425Thr) c.1256A>C (p.Lys419Thr) c.1220A>C (p.Lys407Thr) c.1199A>C (p.Lys400Thr) c.421+30620T>G (n.421+30620T>G) n.440+30620T>G n.242+38015T>G c.962A>C (p.Lys321Thr) c.1376A>C (p.Lys459Thr) | |
6 | g.32293429T= | CA1619500828 | TSBP1,TSBP1-AS1 | c.1238A= (p.Lys413=) c.1241A= (p.Lys414=) c.1217A= (p.Lys406=) c.1244A= (p.Lys415=) c.1196A= (p.Lys399=) c.1229A= (p.Lys410=) c.1298A= (p.Lys433=) c.1277A= (p.Lys426=) c.1274A= (p.Lys425=) c.1256A= (p.Lys419=) c.1220A= (p.Lys407=) c.1199A= (p.Lys400=) c.421+30620T= (n.421+30620T=) n.440+30620T= n.242+38015T= c.962A= (p.Lys321=) c.1376A= (p.Lys459=) | |
6 | g.32293430T>A | CA363561615 | TSBP1,TSBP1-AS1 | c.1237A>T (p.Lys413Ter) c.1240A>T (p.Lys414Ter) c.1216A>T (p.Lys406Ter) c.1243A>T (p.Lys415Ter) c.1195A>T (p.Lys399Ter) c.1228A>T (p.Lys410Ter) c.1297A>T (p.Lys433Ter) c.1276A>T (p.Lys426Ter) c.1273A>T (p.Lys425Ter) c.1255A>T (p.Lys419Ter) c.1219A>T (p.Lys407Ter) c.1198A>T (p.Lys400Ter) c.421+30621T>A (n.421+30621T>A) n.440+30621T>A n.242+38016T>A c.961A>T (p.Lys321Ter) c.1375A>T (p.Lys459Ter) | |
6 | g.32293430T>C | CA363561617 | TSBP1,TSBP1-AS1 | c.1237A>G (p.Lys413Glu) c.1240A>G (p.Lys414Glu) c.1216A>G (p.Lys406Glu) c.1243A>G (p.Lys415Glu) c.1195A>G (p.Lys399Glu) c.1228A>G (p.Lys410Glu) c.1297A>G (p.Lys433Glu) c.1276A>G (p.Lys426Glu) c.1273A>G (p.Lys425Glu) c.1255A>G (p.Lys419Glu) c.1219A>G (p.Lys407Glu) c.1198A>G (p.Lys400Glu) c.421+30621T>C (n.421+30621T>C) n.440+30621T>C n.242+38016T>C c.961A>G (p.Lys321Glu) c.1375A>G (p.Lys459Glu) | |
6 | g.32293430T>G | CA363561616 | TSBP1,TSBP1-AS1 | c.1237A>C (p.Lys413Gln) c.1240A>C (p.Lys414Gln) c.1216A>C (p.Lys406Gln) c.1243A>C (p.Lys415Gln) c.1195A>C (p.Lys399Gln) c.1228A>C (p.Lys410Gln) c.1297A>C (p.Lys433Gln) c.1276A>C (p.Lys426Gln) c.1273A>C (p.Lys425Gln) c.1255A>C (p.Lys419Gln) c.1219A>C (p.Lys407Gln) c.1198A>C (p.Lys400Gln) c.421+30621T>G (n.421+30621T>G) n.440+30621T>G n.242+38016T>G c.961A>C (p.Lys321Gln) c.1375A>C (p.Lys459Gln) | |
6 | g.32293431C>A | CA363561618 | TSBP1,TSBP1-AS1 | c.1236G>T (p.Glu412Asp) c.1239G>T (p.Glu413Asp) c.1215G>T (p.Glu405Asp) c.1242G>T (p.Glu414Asp) c.1194G>T (p.Glu398Asp) c.1227G>T (p.Glu409Asp) c.1296G>T (p.Glu432Asp) c.1275G>T (p.Glu425Asp) c.1272G>T (p.Glu424Asp) c.1254G>T (p.Glu418Asp) c.1218G>T (p.Glu406Asp) c.1197G>T (p.Glu399Asp) c.421+30622C>A (n.421+30622C>A) n.440+30622C>A n.242+38017C>A c.960G>T (p.Glu320Asp) c.1374G>T (p.Glu458Asp) | |
6 | g.32293431C>G | CA363561619 | TSBP1,TSBP1-AS1 | c.1236G>C (p.Glu412Asp) c.1239G>C (p.Glu413Asp) c.1215G>C (p.Glu405Asp) c.1242G>C (p.Glu414Asp) c.1194G>C (p.Glu398Asp) c.1227G>C (p.Glu409Asp) c.1296G>C (p.Glu432Asp) c.1275G>C (p.Glu425Asp) c.1272G>C (p.Glu424Asp) c.1254G>C (p.Glu418Asp) c.1218G>C (p.Glu406Asp) c.1197G>C (p.Glu399Asp) c.421+30622C>G (n.421+30622C>G) n.440+30622C>G n.242+38017C>G c.960G>C (p.Glu320Asp) c.1374G>C (p.Glu458Asp) | gnomAD v4 |
6 | g.32293431C>T | CA449829538 | TSBP1,TSBP1-AS1 | c.1236G>A (p.Glu412=) c.1239G>A (p.Glu413=) c.1215G>A (p.Glu405=) c.1242G>A (p.Glu414=) c.1194G>A (p.Glu398=) c.1227G>A (p.Glu409=) c.1296G>A (p.Glu432=) c.1275G>A (p.Glu425=) c.1272G>A (p.Glu424=) c.1254G>A (p.Glu418=) c.1218G>A (p.Glu406=) c.1197G>A (p.Glu399=) c.421+30622C>T (n.421+30622C>T) n.440+30622C>T n.242+38017C>T c.960G>A (p.Glu320=) c.1374G>A (p.Glu458=) | |
6 | g.32293432T>A | CA363561620 | TSBP1,TSBP1-AS1 | c.1235A>T (p.Glu412Val) c.1238A>T (p.Glu413Val) c.1214A>T (p.Glu405Val) c.1241A>T (p.Glu414Val) c.1193A>T (p.Glu398Val) c.1226A>T (p.Glu409Val) c.1295A>T (p.Glu432Val) c.1274A>T (p.Glu425Val) c.1271A>T (p.Glu424Val) c.1253A>T (p.Glu418Val) c.1217A>T (p.Glu406Val) c.1196A>T (p.Glu399Val) c.421+30623T>A (n.421+30623T>A) n.440+30623T>A n.242+38018T>A c.959A>T (p.Glu320Val) c.1373A>T (p.Glu458Val) | |
6 | g.32293432T>C | CA363561621 | TSBP1,TSBP1-AS1 | c.1235A>G (p.Glu412Gly) c.1238A>G (p.Glu413Gly) c.1214A>G (p.Glu405Gly) c.1241A>G (p.Glu414Gly) c.1193A>G (p.Glu398Gly) c.1226A>G (p.Glu409Gly) c.1295A>G (p.Glu432Gly) c.1274A>G (p.Glu425Gly) c.1271A>G (p.Glu424Gly) c.1253A>G (p.Glu418Gly) c.1217A>G (p.Glu406Gly) c.1196A>G (p.Glu399Gly) c.421+30623T>C (n.421+30623T>C) n.440+30623T>C n.242+38018T>C c.959A>G (p.Glu320Gly) c.1373A>G (p.Glu458Gly) | |
6 | g.32293432T>G | CA363561622 | TSBP1,TSBP1-AS1 | c.1235A>C (p.Glu412Ala) c.1238A>C (p.Glu413Ala) c.1214A>C (p.Glu405Ala) c.1241A>C (p.Glu414Ala) c.1193A>C (p.Glu398Ala) c.1226A>C (p.Glu409Ala) c.1295A>C (p.Glu432Ala) c.1274A>C (p.Glu425Ala) c.1271A>C (p.Glu424Ala) c.1253A>C (p.Glu418Ala) c.1217A>C (p.Glu406Ala) c.1196A>C (p.Glu399Ala) c.421+30623T>G (n.421+30623T>G) n.440+30623T>G n.242+38018T>G c.959A>C (p.Glu320Ala) c.1373A>C (p.Glu458Ala) | |
6 | g.32293433C>A | CA363561623 | TSBP1,TSBP1-AS1 | c.1234G>T (p.Glu412Ter) c.1237G>T (p.Glu413Ter) c.1213G>T (p.Glu405Ter) c.1240G>T (p.Glu414Ter) c.1192G>T (p.Glu398Ter) c.1225G>T (p.Glu409Ter) c.1294G>T (p.Glu432Ter) c.1273G>T (p.Glu425Ter) c.1270G>T (p.Glu424Ter) c.1252G>T (p.Glu418Ter) c.1216G>T (p.Glu406Ter) c.1195G>T (p.Glu399Ter) c.421+30624C>A (n.421+30624C>A) n.440+30624C>A n.242+38019C>A c.958G>T (p.Glu320Ter) c.1372G>T (p.Glu458Ter) | |
6 | g.32293433C= | CA1619500829 | TSBP1,TSBP1-AS1 | c.1234G= (p.Glu412=) c.1237G= (p.Glu413=) c.1213G= (p.Glu405=) c.1240G= (p.Glu414=) c.1192G= (p.Glu398=) c.1225G= (p.Glu409=) c.1294G= (p.Glu432=) c.1273G= (p.Glu425=) c.1270G= (p.Glu424=) c.1252G= (p.Glu418=) c.1216G= (p.Glu406=) c.1195G= (p.Glu399=) c.421+30624C= (n.421+30624C=) n.440+30624C= n.242+38019C= c.958G= (p.Glu320=) c.1372G= (p.Glu458=) | |
6 | g.32293433C>G | CA363561624 | TSBP1,TSBP1-AS1 | c.1234G>C (p.Glu412Gln) c.1237G>C (p.Glu413Gln) c.1213G>C (p.Glu405Gln) c.1240G>C (p.Glu414Gln) c.1192G>C (p.Glu398Gln) c.1225G>C (p.Glu409Gln) c.1294G>C (p.Glu432Gln) c.1273G>C (p.Glu425Gln) c.1270G>C (p.Glu424Gln) c.1252G>C (p.Glu418Gln) c.1216G>C (p.Glu406Gln) c.1195G>C (p.Glu399Gln) c.421+30624C>G (n.421+30624C>G) n.440+30624C>G n.242+38019C>G c.958G>C (p.Glu320Gln) c.1372G>C (p.Glu458Gln) | COSMIC |
6 | g.32293433C>T | CA363561625 | TSBP1,TSBP1-AS1 | c.1234G>A (p.Glu412Lys) c.1237G>A (p.Glu413Lys) c.1213G>A (p.Glu405Lys) c.1240G>A (p.Glu414Lys) c.1192G>A (p.Glu398Lys) c.1225G>A (p.Glu409Lys) c.1294G>A (p.Glu432Lys) c.1273G>A (p.Glu425Lys) c.1270G>A (p.Glu424Lys) c.1252G>A (p.Glu418Lys) c.1216G>A (p.Glu406Lys) c.1195G>A (p.Glu399Lys) c.421+30624C>T (n.421+30624C>T) n.440+30624C>T n.242+38019C>T c.958G>A (p.Glu320Lys) c.1372G>A (p.Glu458Lys) | dbSNP gnomAD v2 |
6 | g.32293433_32293478delinsCTACCTGGGCTTCCTGTCCTTTCAGTACAACTGACTCCCTCTTCTT | CA1619500830 | TSBP1,TSBP1-AS1 | c.1189_1234delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys397=) c.1192_1237delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys398=) c.1168_1213delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys390=) c.1195_1240delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys399=) c.1147_1192delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys383=) c.1180_1225delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys394=) c.1249_1294delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys417=) c.1228_1273delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys410=) c.1225_1270delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys409=) c.1207_1252delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys403=) c.1171_1216delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys391=) c.1150_1195delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys384=) c.421+30624_421+30669delinsCTACCTGGGCTTCCTGTCCTTTCAGTACAACTGACTCCCTCTTCTT (n.421+30624_421+30669delinsCTACCTGGGCTTCCTGTCCTTTCAGTACAACTGACTCCCTCTTCTT) n.440+30624_440+30669delinsCTACCTGGGCTTCCTGTCCTTTCAGTACAACTGACTCCCTCTTCTT n.242+38019_242+38064delinsCTACCTGGGCTTCCTGTCCTTTCAGTACAACTGACTCCCTCTTCTT c.913_958delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys305=) c.1327_1372delinsAAGAAGAGGGAGTCAGTTGTACTGAAAGGACAGGAAGCCCAGGTAG (p.Lys443=) | |
6 | g.32293434T>A | CA449829539 | TSBP1,TSBP1-AS1 | c.1233A>T (p.Val411=) c.1236A>T (p.Val412=) c.1212A>T (p.Val404=) c.1239A>T (p.Val413=) c.1191A>T (p.Val397=) c.1224A>T (p.Val408=) c.1293A>T (p.Val431=) c.1272A>T (p.Val424=) c.1269A>T (p.Val423=) c.1251A>T (p.Val417=) c.1215A>T (p.Val405=) c.1194A>T (p.Val398=) c.421+30625T>A (n.421+30625T>A) n.440+30625T>A n.242+38020T>A c.957A>T (p.Val319=) c.1371A>T (p.Val457=) | |
6 | g.32293434T>C | CA449829540 | TSBP1,TSBP1-AS1 | c.1233A>G (p.Val411=) c.1236A>G (p.Val412=) c.1212A>G (p.Val404=) c.1239A>G (p.Val413=) c.1191A>G (p.Val397=) c.1224A>G (p.Val408=) c.1293A>G (p.Val431=) c.1272A>G (p.Val424=) c.1269A>G (p.Val423=) c.1251A>G (p.Val417=) c.1215A>G (p.Val405=) c.1194A>G (p.Val398=) c.421+30625T>C (n.421+30625T>C) n.440+30625T>C n.242+38020T>C c.957A>G (p.Val319=) c.1371A>G (p.Val457=) | |
6 | g.32293434T>G | CA449829541 | TSBP1,TSBP1-AS1 | c.1233A>C (p.Val411=) c.1236A>C (p.Val412=) c.1212A>C (p.Val404=) c.1239A>C (p.Val413=) c.1191A>C (p.Val397=) c.1224A>C (p.Val408=) c.1293A>C (p.Val431=) c.1272A>C (p.Val424=) c.1269A>C (p.Val423=) c.1251A>C (p.Val417=) c.1215A>C (p.Val405=) c.1194A>C (p.Val398=) c.421+30625T>G (n.421+30625T>G) n.440+30625T>G n.242+38020T>G c.957A>C (p.Val319=) c.1371A>C (p.Val457=) | |
6 | g.32293452_32293496del | CA823938686 | TSBP1,TSBP1-AS1 | c.1189_1233del (p.Lys397_Val411del) c.1192_1236del (p.Lys398_Val412del) c.1168_1212del (p.Lys390_Val404del) c.1195_1239del (p.Lys399_Val413del) c.1147_1191del (p.Lys383_Val397del) c.1180_1224del (p.Lys394_Val408del) c.1249_1293del (p.Lys417_Val431del) c.1228_1272del (p.Lys410_Val424del) c.1225_1269del (p.Lys409_Val423del) c.1207_1251del (p.Lys403_Val417del) c.1171_1215del (p.Lys391_Val405del) c.1150_1194del (p.Lys384_Val398del) c.421+30643_421+30687del (n.421+30643_421+30687del) n.440+30643_440+30687del n.242+38038_242+38082del c.913_957del (p.Lys305_Val319del) c.1327_1371del (p.Lys443_Val457del) | dbSNP |
6 | g.32293435A>C | CA363561626 | TSBP1,TSBP1-AS1 | c.1232T>G (p.Val411Gly) c.1235T>G (p.Val412Gly) c.1211T>G (p.Val404Gly) c.1238T>G (p.Val413Gly) c.1190T>G (p.Val397Gly) c.1223T>G (p.Val408Gly) c.1292T>G (p.Val431Gly) c.1271T>G (p.Val424Gly) c.1268T>G (p.Val423Gly) c.1250T>G (p.Val417Gly) c.1214T>G (p.Val405Gly) c.1193T>G (p.Val398Gly) c.421+30626A>C (n.421+30626A>C) n.440+30626A>C n.242+38021A>C c.956T>G (p.Val319Gly) c.1370T>G (p.Val457Gly) | gnomAD v4 |
6 | g.32293435A>G | CA363561627 | TSBP1,TSBP1-AS1 | c.1232T>C (p.Val411Ala) c.1235T>C (p.Val412Ala) c.1211T>C (p.Val404Ala) c.1238T>C (p.Val413Ala) c.1190T>C (p.Val397Ala) c.1223T>C (p.Val408Ala) c.1292T>C (p.Val431Ala) c.1271T>C (p.Val424Ala) c.1268T>C (p.Val423Ala) c.1250T>C (p.Val417Ala) c.1214T>C (p.Val405Ala) c.1193T>C (p.Val398Ala) c.421+30626A>G (n.421+30626A>G) n.440+30626A>G n.242+38021A>G c.956T>C (p.Val319Ala) c.1370T>C (p.Val457Ala) | |
6 | g.32293435A>T | CA363561628 | TSBP1,TSBP1-AS1 | c.1232T>A (p.Val411Glu) c.1235T>A (p.Val412Glu) c.1211T>A (p.Val404Glu) c.1238T>A (p.Val413Glu) c.1190T>A (p.Val397Glu) c.1223T>A (p.Val408Glu) c.1292T>A (p.Val431Glu) c.1271T>A (p.Val424Glu) c.1268T>A (p.Val423Glu) c.1250T>A (p.Val417Glu) c.1214T>A (p.Val405Glu) c.1193T>A (p.Val398Glu) c.421+30626A>T (n.421+30626A>T) n.440+30626A>T n.242+38021A>T c.956T>A (p.Val319Glu) c.1370T>A (p.Val457Glu) | gnomAD v3 gnomAD v4 COSMIC |
6 | g.32293436C>A | CA363561631 | TSBP1,TSBP1-AS1 | c.1231G>T (p.Val411Leu) c.1234G>T (p.Val412Leu) c.1210G>T (p.Val404Leu) c.1237G>T (p.Val413Leu) c.1189G>T (p.Val397Leu) c.1222G>T (p.Val408Leu) c.1291G>T (p.Val431Leu) c.1270G>T (p.Val424Leu) c.1267G>T (p.Val423Leu) c.1249G>T (p.Val417Leu) c.1213G>T (p.Val405Leu) c.1192G>T (p.Val398Leu) c.421+30627C>A (n.421+30627C>A) n.440+30627C>A n.242+38022C>A c.955G>T (p.Val319Leu) c.1369G>T (p.Val457Leu) | |
6 | g.32293436C>G | CA363561630 | TSBP1,TSBP1-AS1 | c.1231G>C (p.Val411Leu) c.1234G>C (p.Val412Leu) c.1210G>C (p.Val404Leu) c.1237G>C (p.Val413Leu) c.1189G>C (p.Val397Leu) c.1222G>C (p.Val408Leu) c.1291G>C (p.Val431Leu) c.1270G>C (p.Val424Leu) c.1267G>C (p.Val423Leu) c.1249G>C (p.Val417Leu) c.1213G>C (p.Val405Leu) c.1192G>C (p.Val398Leu) c.421+30627C>G (n.421+30627C>G) n.440+30627C>G n.242+38022C>G c.955G>C (p.Val319Leu) c.1369G>C (p.Val457Leu) | |
6 | g.32293436C>T | CA363561629 | TSBP1,TSBP1-AS1 | c.1231G>A (p.Val411Ile) c.1234G>A (p.Val412Ile) c.1210G>A (p.Val404Ile) c.1237G>A (p.Val413Ile) c.1189G>A (p.Val397Ile) c.1222G>A (p.Val408Ile) c.1291G>A (p.Val431Ile) c.1270G>A (p.Val424Ile) c.1267G>A (p.Val423Ile) c.1249G>A (p.Val417Ile) c.1213G>A (p.Val405Ile) c.1192G>A (p.Val398Ile) c.421+30627C>T (n.421+30627C>T) n.440+30627C>T n.242+38022C>T c.955G>A (p.Val319Ile) c.1369G>A (p.Val457Ile) | |
6 | g.32293437C>A | CA363561632 | TSBP1,TSBP1-AS1 | c.1230G>T (p.Gln410His) c.1233G>T (p.Gln411His) c.1209G>T (p.Gln403His) c.1236G>T (p.Gln412His) c.1188G>T (p.Gln396His) c.1221G>T (p.Gln407His) c.1290G>T (p.Gln430His) c.1269G>T (p.Gln423His) c.1266G>T (p.Gln422His) c.1248G>T (p.Gln416His) c.1212G>T (p.Gln404His) c.1191G>T (p.Gln397His) c.421+30628C>A (n.421+30628C>A) n.440+30628C>A n.242+38023C>A c.954G>T (p.Gln318His) c.1368G>T (p.Gln456His) | |
6 | g.32293437C>G | CA363561633 | TSBP1,TSBP1-AS1 | c.1230G>C (p.Gln410His) c.1233G>C (p.Gln411His) c.1209G>C (p.Gln403His) c.1236G>C (p.Gln412His) c.1188G>C (p.Gln396His) c.1221G>C (p.Gln407His) c.1290G>C (p.Gln430His) c.1269G>C (p.Gln423His) c.1266G>C (p.Gln422His) c.1248G>C (p.Gln416His) c.1212G>C (p.Gln404His) c.1191G>C (p.Gln397His) c.421+30628C>G (n.421+30628C>G) n.440+30628C>G n.242+38023C>G c.954G>C (p.Gln318His) c.1368G>C (p.Gln456His) | |
6 | g.32293437C>T | CA449829542 | TSBP1,TSBP1-AS1 | c.1230G>A (p.Gln410=) c.1233G>A (p.Gln411=) c.1209G>A (p.Gln403=) c.1236G>A (p.Gln412=) c.1188G>A (p.Gln396=) c.1221G>A (p.Gln407=) c.1290G>A (p.Gln430=) c.1269G>A (p.Gln423=) c.1266G>A (p.Gln422=) c.1248G>A (p.Gln416=) c.1212G>A (p.Gln404=) c.1191G>A (p.Gln397=) c.421+30628C>T (n.421+30628C>T) n.440+30628C>T n.242+38023C>T c.954G>A (p.Gln318=) c.1368G>A (p.Gln456=) | gnomAD v4 |
6 | g.32293438T>A | CA363561634 | TSBP1,TSBP1-AS1 | c.1229A>T (p.Gln410Leu) c.1232A>T (p.Gln411Leu) c.1208A>T (p.Gln403Leu) c.1235A>T (p.Gln412Leu) c.1187A>T (p.Gln396Leu) c.1220A>T (p.Gln407Leu) c.1289A>T (p.Gln430Leu) c.1268A>T (p.Gln423Leu) c.1265A>T (p.Gln422Leu) c.1247A>T (p.Gln416Leu) c.1211A>T (p.Gln404Leu) c.1190A>T (p.Gln397Leu) c.421+30629T>A (n.421+30629T>A) n.440+30629T>A n.242+38024T>A c.953A>T (p.Gln318Leu) c.1367A>T (p.Gln456Leu) | |
6 | g.32293438T>C | CA363561635 | TSBP1,TSBP1-AS1 | c.1229A>G (p.Gln410Arg) c.1232A>G (p.Gln411Arg) c.1208A>G (p.Gln403Arg) c.1235A>G (p.Gln412Arg) c.1187A>G (p.Gln396Arg) c.1220A>G (p.Gln407Arg) c.1289A>G (p.Gln430Arg) c.1268A>G (p.Gln423Arg) c.1265A>G (p.Gln422Arg) c.1247A>G (p.Gln416Arg) c.1211A>G (p.Gln404Arg) c.1190A>G (p.Gln397Arg) c.421+30629T>C (n.421+30629T>C) n.440+30629T>C n.242+38024T>C c.953A>G (p.Gln318Arg) c.1367A>G (p.Gln456Arg) | |
6 | g.32293438T>G | CA363561636 | TSBP1,TSBP1-AS1 | c.1229A>C (p.Gln410Pro) c.1232A>C (p.Gln411Pro) c.1208A>C (p.Gln403Pro) c.1235A>C (p.Gln412Pro) c.1187A>C (p.Gln396Pro) c.1220A>C (p.Gln407Pro) c.1289A>C (p.Gln430Pro) c.1268A>C (p.Gln423Pro) c.1265A>C (p.Gln422Pro) c.1247A>C (p.Gln416Pro) c.1211A>C (p.Gln404Pro) c.1190A>C (p.Gln397Pro) c.421+30629T>G (n.421+30629T>G) n.440+30629T>G n.242+38024T>G c.953A>C (p.Gln318Pro) c.1367A>C (p.Gln456Pro) | |
6 | g.32293439G>A | CA363561637 | TSBP1,TSBP1-AS1 | c.1228C>T (p.Gln410Ter) c.1231C>T (p.Gln411Ter) c.1207C>T (p.Gln403Ter) c.1234C>T (p.Gln412Ter) c.1186C>T (p.Gln396Ter) c.1219C>T (p.Gln407Ter) c.1288C>T (p.Gln430Ter) c.1267C>T (p.Gln423Ter) c.1264C>T (p.Gln422Ter) c.1246C>T (p.Gln416Ter) c.1210C>T (p.Gln404Ter) c.1189C>T (p.Gln397Ter) c.421+30630G>A (n.421+30630G>A) n.440+30630G>A n.242+38025G>A c.952C>T (p.Gln318Ter) c.1366C>T (p.Gln456Ter) | gnomAD v4 |
6 | g.32293439G>C | CA363561638 | TSBP1,TSBP1-AS1 | c.1228C>G (p.Gln410Glu) c.1231C>G (p.Gln411Glu) c.1207C>G (p.Gln403Glu) c.1234C>G (p.Gln412Glu) c.1186C>G (p.Gln396Glu) c.1219C>G (p.Gln407Glu) c.1288C>G (p.Gln430Glu) c.1267C>G (p.Gln423Glu) c.1264C>G (p.Gln422Glu) c.1246C>G (p.Gln416Glu) c.1210C>G (p.Gln404Glu) c.1189C>G (p.Gln397Glu) c.421+30630G>C (n.421+30630G>C) n.440+30630G>C n.242+38025G>C c.952C>G (p.Gln318Glu) c.1366C>G (p.Gln456Glu) | |
6 | g.32293439G>T | CA363561639 | TSBP1,TSBP1-AS1 | c.1228C>A (p.Gln410Lys) c.1231C>A (p.Gln411Lys) c.1207C>A (p.Gln403Lys) c.1234C>A (p.Gln412Lys) c.1186C>A (p.Gln396Lys) c.1219C>A (p.Gln407Lys) c.1288C>A (p.Gln430Lys) c.1267C>A (p.Gln423Lys) c.1264C>A (p.Gln422Lys) c.1246C>A (p.Gln416Lys) c.1210C>A (p.Gln404Lys) c.1189C>A (p.Gln397Lys) c.421+30630G>T (n.421+30630G>T) n.440+30630G>T n.242+38025G>T c.952C>A (p.Gln318Lys) c.1366C>A (p.Gln456Lys) | |
6 | g.32293440G>A | CA449829546 | TSBP1,TSBP1-AS1 | c.1227C>T (p.Ala409=) c.1230C>T (p.Ala410=) c.1206C>T (p.Ala402=) c.1233C>T (p.Ala411=) c.1185C>T (p.Ala395=) c.1218C>T (p.Ala406=) c.1287C>T (p.Ala429=) c.1266C>T (p.Ala422=) c.1263C>T (p.Ala421=) c.1245C>T (p.Ala415=) c.1209C>T (p.Ala403=) c.1188C>T (p.Ala396=) c.421+30631G>A (n.421+30631G>A) n.440+30631G>A n.242+38026G>A c.951C>T (p.Ala317=) c.1365C>T (p.Ala455=) | |
6 | g.32293440G>C | CA449829547 | TSBP1,TSBP1-AS1 | c.1227C>G (p.Ala409=) c.1230C>G (p.Ala410=) c.1206C>G (p.Ala402=) c.1233C>G (p.Ala411=) c.1185C>G (p.Ala395=) c.1218C>G (p.Ala406=) c.1287C>G (p.Ala429=) c.1266C>G (p.Ala422=) c.1263C>G (p.Ala421=) c.1245C>G (p.Ala415=) c.1209C>G (p.Ala403=) c.1188C>G (p.Ala396=) c.421+30631G>C (n.421+30631G>C) n.440+30631G>C n.242+38026G>C c.951C>G (p.Ala317=) c.1365C>G (p.Ala455=) | |
6 | g.32293440G>T | CA449829548 | TSBP1,TSBP1-AS1 | c.1227C>A (p.Ala409=) c.1230C>A (p.Ala410=) c.1206C>A (p.Ala402=) c.1233C>A (p.Ala411=) c.1185C>A (p.Ala395=) c.1218C>A (p.Ala406=) c.1287C>A (p.Ala429=) c.1266C>A (p.Ala422=) c.1263C>A (p.Ala421=) c.1245C>A (p.Ala415=) c.1209C>A (p.Ala403=) c.1188C>A (p.Ala396=) c.421+30631G>T (n.421+30631G>T) n.440+30631G>T n.242+38026G>T c.951C>A (p.Ala317=) c.1365C>A (p.Ala455=) | |
6 | g.32293441G>A | CA363561640 | TSBP1,TSBP1-AS1 | c.1226C>T (p.Ala409Val) c.1229C>T (p.Ala410Val) c.1205C>T (p.Ala402Val) c.1232C>T (p.Ala411Val) c.1184C>T (p.Ala395Val) c.1217C>T (p.Ala406Val) c.1286C>T (p.Ala429Val) c.1265C>T (p.Ala422Val) c.1262C>T (p.Ala421Val) c.1244C>T (p.Ala415Val) c.1208C>T (p.Ala403Val) c.1187C>T (p.Ala396Val) c.421+30632G>A (n.421+30632G>A) n.440+30632G>A n.242+38027G>A c.950C>T (p.Ala317Val) c.1364C>T (p.Ala455Val) | |
6 | g.32293441G>C | CA363561641 | TSBP1,TSBP1-AS1 | c.1226C>G (p.Ala409Gly) c.1229C>G (p.Ala410Gly) c.1205C>G (p.Ala402Gly) c.1232C>G (p.Ala411Gly) c.1184C>G (p.Ala395Gly) c.1217C>G (p.Ala406Gly) c.1286C>G (p.Ala429Gly) c.1265C>G (p.Ala422Gly) c.1262C>G (p.Ala421Gly) c.1244C>G (p.Ala415Gly) c.1208C>G (p.Ala403Gly) c.1187C>G (p.Ala396Gly) c.421+30632G>C (n.421+30632G>C) n.440+30632G>C n.242+38027G>C c.950C>G (p.Ala317Gly) c.1364C>G (p.Ala455Gly) | |
6 | g.32293441G>T | CA363561642 | TSBP1,TSBP1-AS1 | c.1226C>A (p.Ala409Asp) c.1229C>A (p.Ala410Asp) c.1205C>A (p.Ala402Asp) c.1232C>A (p.Ala411Asp) c.1184C>A (p.Ala395Asp) c.1217C>A (p.Ala406Asp) c.1286C>A (p.Ala429Asp) c.1265C>A (p.Ala422Asp) c.1262C>A (p.Ala421Asp) c.1244C>A (p.Ala415Asp) c.1208C>A (p.Ala403Asp) c.1187C>A (p.Ala396Asp) c.421+30632G>T (n.421+30632G>T) n.440+30632G>T n.242+38027G>T c.950C>A (p.Ala317Asp) c.1364C>A (p.Ala455Asp) | |
6 | g.32293442C>A | CA363561644 | TSBP1,TSBP1-AS1 | c.1225G>T (p.Ala409Ser) c.1228G>T (p.Ala410Ser) c.1204G>T (p.Ala402Ser) c.1231G>T (p.Ala411Ser) c.1183G>T (p.Ala395Ser) c.1216G>T (p.Ala406Ser) c.1285G>T (p.Ala429Ser) c.1264G>T (p.Ala422Ser) c.1261G>T (p.Ala421Ser) c.1243G>T (p.Ala415Ser) c.1207G>T (p.Ala403Ser) c.1186G>T (p.Ala396Ser) c.421+30633C>A (n.421+30633C>A) n.440+30633C>A n.242+38028C>A c.949G>T (p.Ala317Ser) c.1363G>T (p.Ala455Ser) | |
6 | g.32293442C>G | CA363561645 | TSBP1,TSBP1-AS1 | c.1225G>C (p.Ala409Pro) c.1228G>C (p.Ala410Pro) c.1204G>C (p.Ala402Pro) c.1231G>C (p.Ala411Pro) c.1183G>C (p.Ala395Pro) c.1216G>C (p.Ala406Pro) c.1285G>C (p.Ala429Pro) c.1264G>C (p.Ala422Pro) c.1261G>C (p.Ala421Pro) c.1243G>C (p.Ala415Pro) c.1207G>C (p.Ala403Pro) c.1186G>C (p.Ala396Pro) c.421+30633C>G (n.421+30633C>G) n.440+30633C>G n.242+38028C>G c.949G>C (p.Ala317Pro) c.1363G>C (p.Ala455Pro) | |
6 | g.32293442C>T | CA363561643 | TSBP1,TSBP1-AS1 | c.1225G>A (p.Ala409Thr) c.1228G>A (p.Ala410Thr) c.1204G>A (p.Ala402Thr) c.1231G>A (p.Ala411Thr) c.1183G>A (p.Ala395Thr) c.1216G>A (p.Ala406Thr) c.1285G>A (p.Ala429Thr) c.1264G>A (p.Ala422Thr) c.1261G>A (p.Ala421Thr) c.1243G>A (p.Ala415Thr) c.1207G>A (p.Ala403Thr) c.1186G>A (p.Ala396Thr) c.421+30633C>T (n.421+30633C>T) n.440+30633C>T n.242+38028C>T c.949G>A (p.Ala317Thr) c.1363G>A (p.Ala455Thr) | |
6 | g.32293443T>A | CA363561646 | TSBP1,TSBP1-AS1 | c.1224A>T (p.Glu408Asp) c.1227A>T (p.Glu409Asp) c.1203A>T (p.Glu401Asp) c.1230A>T (p.Glu410Asp) c.1182A>T (p.Glu394Asp) c.1215A>T (p.Glu405Asp) c.1284A>T (p.Glu428Asp) c.1263A>T (p.Glu421Asp) c.1260A>T (p.Glu420Asp) c.1242A>T (p.Glu414Asp) c.1206A>T (p.Glu402Asp) c.1185A>T (p.Glu395Asp) c.421+30634T>A (n.421+30634T>A) n.440+30634T>A n.242+38029T>A c.948A>T (p.Glu316Asp) c.1362A>T (p.Glu454Asp) | |
6 | g.32293443T>C | CA449829553 | TSBP1,TSBP1-AS1 | c.1224A>G (p.Glu408=) c.1227A>G (p.Glu409=) c.1203A>G (p.Glu401=) c.1230A>G (p.Glu410=) c.1182A>G (p.Glu394=) c.1215A>G (p.Glu405=) c.1284A>G (p.Glu428=) c.1263A>G (p.Glu421=) c.1260A>G (p.Glu420=) c.1242A>G (p.Glu414=) c.1206A>G (p.Glu402=) c.1185A>G (p.Glu395=) c.421+30634T>C (n.421+30634T>C) n.440+30634T>C n.242+38029T>C c.948A>G (p.Glu316=) c.1362A>G (p.Glu454=) | |
6 | g.32293443T>G | CA363561647 | TSBP1,TSBP1-AS1 | c.1224A>C (p.Glu408Asp) c.1227A>C (p.Glu409Asp) c.1203A>C (p.Glu401Asp) c.1230A>C (p.Glu410Asp) c.1182A>C (p.Glu394Asp) c.1215A>C (p.Glu405Asp) c.1284A>C (p.Glu428Asp) c.1263A>C (p.Glu421Asp) c.1260A>C (p.Glu420Asp) c.1242A>C (p.Glu414Asp) c.1206A>C (p.Glu402Asp) c.1185A>C (p.Glu395Asp) c.421+30634T>G (n.421+30634T>G) n.440+30634T>G n.242+38029T>G c.948A>C (p.Glu316Asp) c.1362A>C (p.Glu454Asp) | |
6 | g.32293444T>A | CA363561648 | TSBP1,TSBP1-AS1 | c.1223A>T (p.Glu408Val) c.1226A>T (p.Glu409Val) c.1202A>T (p.Glu401Val) c.1229A>T (p.Glu410Val) c.1181A>T (p.Glu394Val) c.1214A>T (p.Glu405Val) c.1283A>T (p.Glu428Val) c.1262A>T (p.Glu421Val) c.1259A>T (p.Glu420Val) c.1241A>T (p.Glu414Val) c.1205A>T (p.Glu402Val) c.1184A>T (p.Glu395Val) c.421+30635T>A (n.421+30635T>A) n.440+30635T>A n.242+38030T>A c.947A>T (p.Glu316Val) c.1361A>T (p.Glu454Val) | |
6 | g.32293444T>C | CA363561649 | TSBP1,TSBP1-AS1 | c.1223A>G (p.Glu408Gly) c.1226A>G (p.Glu409Gly) c.1202A>G (p.Glu401Gly) c.1229A>G (p.Glu410Gly) c.1181A>G (p.Glu394Gly) c.1214A>G (p.Glu405Gly) c.1283A>G (p.Glu428Gly) c.1262A>G (p.Glu421Gly) c.1259A>G (p.Glu420Gly) c.1241A>G (p.Glu414Gly) c.1205A>G (p.Glu402Gly) c.1184A>G (p.Glu395Gly) c.421+30635T>C (n.421+30635T>C) n.440+30635T>C n.242+38030T>C c.947A>G (p.Glu316Gly) c.1361A>G (p.Glu454Gly) | |
6 | g.32293444T>G | CA363561650 | TSBP1,TSBP1-AS1 | c.1223A>C (p.Glu408Ala) c.1226A>C (p.Glu409Ala) c.1202A>C (p.Glu401Ala) c.1229A>C (p.Glu410Ala) c.1181A>C (p.Glu394Ala) c.1214A>C (p.Glu405Ala) c.1283A>C (p.Glu428Ala) c.1262A>C (p.Glu421Ala) c.1259A>C (p.Glu420Ala) c.1241A>C (p.Glu414Ala) c.1205A>C (p.Glu402Ala) c.1184A>C (p.Glu395Ala) c.421+30635T>G (n.421+30635T>G) n.440+30635T>G n.242+38030T>G c.947A>C (p.Glu316Ala) c.1361A>C (p.Glu454Ala) | |
6 | g.32293445C>A | CA363561653 | TSBP1,TSBP1-AS1 | c.1222G>T (p.Glu408Ter) c.1225G>T (p.Glu409Ter) c.1201G>T (p.Glu401Ter) c.1228G>T (p.Glu410Ter) c.1180G>T (p.Glu394Ter) c.1213G>T (p.Glu405Ter) c.1282G>T (p.Glu428Ter) c.1261G>T (p.Glu421Ter) c.1258G>T (p.Glu420Ter) c.1240G>T (p.Glu414Ter) c.1204G>T (p.Glu402Ter) c.1183G>T (p.Glu395Ter) c.421+30636C>A (n.421+30636C>A) n.440+30636C>A n.242+38031C>A c.946G>T (p.Glu316Ter) c.1360G>T (p.Glu454Ter) | |
6 | g.32293445C>G | CA363561651 | TSBP1,TSBP1-AS1 | c.1222G>C (p.Glu408Gln) c.1225G>C (p.Glu409Gln) c.1201G>C (p.Glu401Gln) c.1228G>C (p.Glu410Gln) c.1180G>C (p.Glu394Gln) c.1213G>C (p.Glu405Gln) c.1282G>C (p.Glu428Gln) c.1261G>C (p.Glu421Gln) c.1258G>C (p.Glu420Gln) c.1240G>C (p.Glu414Gln) c.1204G>C (p.Glu402Gln) c.1183G>C (p.Glu395Gln) c.421+30636C>G (n.421+30636C>G) n.440+30636C>G n.242+38031C>G c.946G>C (p.Glu316Gln) c.1360G>C (p.Glu454Gln) | |
6 | g.32293445C>T | CA363561652 | TSBP1,TSBP1-AS1 | c.1222G>A (p.Glu408Lys) c.1225G>A (p.Glu409Lys) c.1201G>A (p.Glu401Lys) c.1228G>A (p.Glu410Lys) c.1180G>A (p.Glu394Lys) c.1213G>A (p.Glu405Lys) c.1282G>A (p.Glu428Lys) c.1261G>A (p.Glu421Lys) c.1258G>A (p.Glu420Lys) c.1240G>A (p.Glu414Lys) c.1204G>A (p.Glu402Lys) c.1183G>A (p.Glu395Lys) c.421+30636C>T (n.421+30636C>T) n.440+30636C>T n.242+38031C>T c.946G>A (p.Glu316Lys) c.1360G>A (p.Glu454Lys) | |
6 | g.32293446C>A | CA363561654 | TSBP1,TSBP1-AS1 | c.1221G>T (p.Gln407His) c.1224G>T (p.Gln408His) c.1200G>T (p.Gln400His) c.1227G>T (p.Gln409His) c.1179G>T (p.Gln393His) c.1212G>T (p.Gln404His) c.1281G>T (p.Gln427His) c.1260G>T (p.Gln420His) c.1257G>T (p.Gln419His) c.1239G>T (p.Gln413His) c.1203G>T (p.Gln401His) c.1182G>T (p.Gln394His) c.421+30637C>A (n.421+30637C>A) n.440+30637C>A n.242+38032C>A c.945G>T (p.Gln315His) c.1359G>T (p.Gln453His) | |
6 | g.32293446C>G | CA363561655 | TSBP1,TSBP1-AS1 | c.1221G>C (p.Gln407His) c.1224G>C (p.Gln408His) c.1200G>C (p.Gln400His) c.1227G>C (p.Gln409His) c.1179G>C (p.Gln393His) c.1212G>C (p.Gln404His) c.1281G>C (p.Gln427His) c.1260G>C (p.Gln420His) c.1257G>C (p.Gln419His) c.1239G>C (p.Gln413His) c.1203G>C (p.Gln401His) c.1182G>C (p.Gln394His) c.421+30637C>G (n.421+30637C>G) n.440+30637C>G n.242+38032C>G c.945G>C (p.Gln315His) c.1359G>C (p.Gln453His) | |
6 | g.32293446C>T | CA449829558 | TSBP1,TSBP1-AS1 | c.1221G>A (p.Gln407=) c.1224G>A (p.Gln408=) c.1200G>A (p.Gln400=) c.1227G>A (p.Gln409=) c.1179G>A (p.Gln393=) c.1212G>A (p.Gln404=) c.1281G>A (p.Gln427=) c.1260G>A (p.Gln420=) c.1257G>A (p.Gln419=) c.1239G>A (p.Gln413=) c.1203G>A (p.Gln401=) c.1182G>A (p.Gln394=) c.421+30637C>T (n.421+30637C>T) n.440+30637C>T n.242+38032C>T c.945G>A (p.Gln315=) c.1359G>A (p.Gln453=) | |
6 | g.32293447T>A | CA363561656 | TSBP1,TSBP1-AS1 | c.1220A>T (p.Gln407Leu) c.1223A>T (p.Gln408Leu) c.1199A>T (p.Gln400Leu) c.1226A>T (p.Gln409Leu) c.1178A>T (p.Gln393Leu) c.1211A>T (p.Gln404Leu) c.1280A>T (p.Gln427Leu) c.1259A>T (p.Gln420Leu) c.1256A>T (p.Gln419Leu) c.1238A>T (p.Gln413Leu) c.1202A>T (p.Gln401Leu) c.1181A>T (p.Gln394Leu) c.421+30638T>A (n.421+30638T>A) n.440+30638T>A n.242+38033T>A c.944A>T (p.Gln315Leu) c.1358A>T (p.Gln453Leu) | |
6 | g.32293447T>C | CA363561657 | TSBP1,TSBP1-AS1 | c.1220A>G (p.Gln407Arg) c.1223A>G (p.Gln408Arg) c.1199A>G (p.Gln400Arg) c.1226A>G (p.Gln409Arg) c.1178A>G (p.Gln393Arg) c.1211A>G (p.Gln404Arg) c.1280A>G (p.Gln427Arg) c.1259A>G (p.Gln420Arg) c.1256A>G (p.Gln419Arg) c.1238A>G (p.Gln413Arg) c.1202A>G (p.Gln401Arg) c.1181A>G (p.Gln394Arg) c.421+30638T>C (n.421+30638T>C) n.440+30638T>C n.242+38033T>C c.944A>G (p.Gln315Arg) c.1358A>G (p.Gln453Arg) | |
6 | g.32293447T>G | CA363561658 | TSBP1,TSBP1-AS1 | c.1220A>C (p.Gln407Pro) c.1223A>C (p.Gln408Pro) c.1199A>C (p.Gln400Pro) c.1226A>C (p.Gln409Pro) c.1178A>C (p.Gln393Pro) c.1211A>C (p.Gln404Pro) c.1280A>C (p.Gln427Pro) c.1259A>C (p.Gln420Pro) c.1256A>C (p.Gln419Pro) c.1238A>C (p.Gln413Pro) c.1202A>C (p.Gln401Pro) c.1181A>C (p.Gln394Pro) c.421+30638T>G (n.421+30638T>G) n.440+30638T>G n.242+38033T>G c.944A>C (p.Gln315Pro) c.1358A>C (p.Gln453Pro) | gnomAD v4 |
6 | g.32293448G>A | CA363561659 | TSBP1,TSBP1-AS1 | c.1219C>T (p.Gln407Ter) c.1222C>T (p.Gln408Ter) c.1198C>T (p.Gln400Ter) c.1225C>T (p.Gln409Ter) c.1177C>T (p.Gln393Ter) c.1210C>T (p.Gln404Ter) c.1279C>T (p.Gln427Ter) c.1258C>T (p.Gln420Ter) c.1255C>T (p.Gln419Ter) c.1237C>T (p.Gln413Ter) c.1201C>T (p.Gln401Ter) c.1180C>T (p.Gln394Ter) c.421+30639G>A (n.421+30639G>A) n.440+30639G>A n.242+38034G>A c.943C>T (p.Gln315Ter) c.1357C>T (p.Gln453Ter) | dbSNP gnomAD v2 |
6 | g.32293448G>C | CA363561661 | TSBP1,TSBP1-AS1 | c.1219C>G (p.Gln407Glu) c.1222C>G (p.Gln408Glu) c.1198C>G (p.Gln400Glu) c.1225C>G (p.Gln409Glu) c.1177C>G (p.Gln393Glu) c.1210C>G (p.Gln404Glu) c.1279C>G (p.Gln427Glu) c.1258C>G (p.Gln420Glu) c.1255C>G (p.Gln419Glu) c.1237C>G (p.Gln413Glu) c.1201C>G (p.Gln401Glu) c.1180C>G (p.Gln394Glu) c.421+30639G>C (n.421+30639G>C) n.440+30639G>C n.242+38034G>C c.943C>G (p.Gln315Glu) c.1357C>G (p.Gln453Glu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.32293448G= | CA1619500831 | TSBP1,TSBP1-AS1 | c.1219C= (p.Gln407=) c.1222C= (p.Gln408=) c.1198C= (p.Gln400=) c.1225C= (p.Gln409=) c.1177C= (p.Gln393=) c.1210C= (p.Gln404=) c.1279C= (p.Gln427=) c.1258C= (p.Gln420=) c.1255C= (p.Gln419=) c.1237C= (p.Gln413=) c.1201C= (p.Gln401=) c.1180C= (p.Gln394=) c.421+30639G= (n.421+30639G=) n.440+30639G= n.242+38034G= c.943C= (p.Gln315=) c.1357C= (p.Gln453=) | |
6 | g.32293448G>T | CA363561660 | TSBP1,TSBP1-AS1 | c.1219C>A (p.Gln407Lys) c.1222C>A (p.Gln408Lys) c.1198C>A (p.Gln400Lys) c.1225C>A (p.Gln409Lys) c.1177C>A (p.Gln393Lys) c.1210C>A (p.Gln404Lys) c.1279C>A (p.Gln427Lys) c.1258C>A (p.Gln420Lys) c.1255C>A (p.Gln419Lys) c.1237C>A (p.Gln413Lys) c.1201C>A (p.Gln401Lys) c.1180C>A (p.Gln394Lys) c.421+30639G>T (n.421+30639G>T) n.440+30639G>T n.242+38034G>T c.943C>A (p.Gln315Lys) c.1357C>A (p.Gln453Lys) | |
6 | g.32293449T>A | CA449829562 | TSBP1,TSBP1-AS1 | c.1218A>T (p.Gly406=) c.1221A>T (p.Gly407=) c.1197A>T (p.Gly399=) c.1224A>T (p.Gly408=) c.1176A>T (p.Gly392=) c.1209A>T (p.Gly403=) c.1278A>T (p.Gly426=) c.1257A>T (p.Gly419=) c.1254A>T (p.Gly418=) c.1236A>T (p.Gly412=) c.1200A>T (p.Gly400=) c.1179A>T (p.Gly393=) c.421+30640T>A (n.421+30640T>A) n.440+30640T>A n.242+38035T>A c.942A>T (p.Gly314=) c.1356A>T (p.Gly452=) | |
6 | g.32293449T>C | CA449829564 | TSBP1,TSBP1-AS1 | c.1218A>G (p.Gly406=) c.1221A>G (p.Gly407=) c.1197A>G (p.Gly399=) c.1224A>G (p.Gly408=) c.1176A>G (p.Gly392=) c.1209A>G (p.Gly403=) c.1278A>G (p.Gly426=) c.1257A>G (p.Gly419=) c.1254A>G (p.Gly418=) c.1236A>G (p.Gly412=) c.1200A>G (p.Gly400=) c.1179A>G (p.Gly393=) c.421+30640T>C (n.421+30640T>C) n.440+30640T>C n.242+38035T>C c.942A>G (p.Gly314=) c.1356A>G (p.Gly452=) | |
6 | g.32293449T>G | CA449829563 | TSBP1,TSBP1-AS1 | c.1218A>C (p.Gly406=) c.1221A>C (p.Gly407=) c.1197A>C (p.Gly399=) c.1224A>C (p.Gly408=) c.1176A>C (p.Gly392=) c.1209A>C (p.Gly403=) c.1278A>C (p.Gly426=) c.1257A>C (p.Gly419=) c.1254A>C (p.Gly418=) c.1236A>C (p.Gly412=) c.1200A>C (p.Gly400=) c.1179A>C (p.Gly393=) c.421+30640T>G (n.421+30640T>G) n.440+30640T>G n.242+38035T>G c.942A>C (p.Gly314=) c.1356A>C (p.Gly452=) | |
6 | g.32293450C>A | CA363561662 | TSBP1,TSBP1-AS1 | c.1217G>T (p.Gly406Val) c.1220G>T (p.Gly407Val) c.1196G>T (p.Gly399Val) c.1223G>T (p.Gly408Val) c.1175G>T (p.Gly392Val) c.1208G>T (p.Gly403Val) c.1277G>T (p.Gly426Val) c.1256G>T (p.Gly419Val) c.1253G>T (p.Gly418Val) c.1235G>T (p.Gly412Val) c.1199G>T (p.Gly400Val) c.1178G>T (p.Gly393Val) c.421+30641C>A (n.421+30641C>A) n.440+30641C>A n.242+38036C>A c.941G>T (p.Gly314Val) c.1355G>T (p.Gly452Val) | |
6 | g.32293450C>G | CA363561663 | TSBP1,TSBP1-AS1 | c.1217G>C (p.Gly406Ala) c.1220G>C (p.Gly407Ala) c.1196G>C (p.Gly399Ala) c.1223G>C (p.Gly408Ala) c.1175G>C (p.Gly392Ala) c.1208G>C (p.Gly403Ala) c.1277G>C (p.Gly426Ala) c.1256G>C (p.Gly419Ala) c.1253G>C (p.Gly418Ala) c.1235G>C (p.Gly412Ala) c.1199G>C (p.Gly400Ala) c.1178G>C (p.Gly393Ala) c.421+30641C>G (n.421+30641C>G) n.440+30641C>G n.242+38036C>G c.941G>C (p.Gly314Ala) c.1355G>C (p.Gly452Ala) | |
6 | g.32293450C>T | CA363561664 | TSBP1,TSBP1-AS1 | c.1217G>A (p.Gly406Glu) c.1220G>A (p.Gly407Glu) c.1196G>A (p.Gly399Glu) c.1223G>A (p.Gly408Glu) c.1175G>A (p.Gly392Glu) c.1208G>A (p.Gly403Glu) c.1277G>A (p.Gly426Glu) c.1256G>A (p.Gly419Glu) c.1253G>A (p.Gly418Glu) c.1235G>A (p.Gly412Glu) c.1199G>A (p.Gly400Glu) c.1178G>A (p.Gly393Glu) c.421+30641C>T (n.421+30641C>T) n.440+30641C>T n.242+38036C>T c.941G>A (p.Gly314Glu) c.1355G>A (p.Gly452Glu) | COSMIC |
6 | g.32293451C>A | CA363561665 | TSBP1,TSBP1-AS1 | c.1216G>T (p.Gly406Ter) c.1219G>T (p.Gly407Ter) c.1195G>T (p.Gly399Ter) c.1222G>T (p.Gly408Ter) c.1174G>T (p.Gly392Ter) c.1207G>T (p.Gly403Ter) c.1276G>T (p.Gly426Ter) c.1255G>T (p.Gly419Ter) c.1252G>T (p.Gly418Ter) c.1234G>T (p.Gly412Ter) c.1198G>T (p.Gly400Ter) c.1177G>T (p.Gly393Ter) c.421+30642C>A (n.421+30642C>A) n.440+30642C>A n.242+38037C>A c.940G>T (p.Gly314Ter) c.1354G>T (p.Gly452Ter) | |
6 | g.32293451C>G | CA363561666 | TSBP1,TSBP1-AS1 | c.1216G>C (p.Gly406Arg) c.1219G>C (p.Gly407Arg) c.1195G>C (p.Gly399Arg) c.1222G>C (p.Gly408Arg) c.1174G>C (p.Gly392Arg) c.1207G>C (p.Gly403Arg) c.1276G>C (p.Gly426Arg) c.1255G>C (p.Gly419Arg) c.1252G>C (p.Gly418Arg) c.1234G>C (p.Gly412Arg) c.1198G>C (p.Gly400Arg) c.1177G>C (p.Gly393Arg) c.421+30642C>G (n.421+30642C>G) n.440+30642C>G n.242+38037C>G c.940G>C (p.Gly314Arg) c.1354G>C (p.Gly452Arg) | |
6 | g.32293451C>T | CA363561667 | TSBP1,TSBP1-AS1 | c.1216G>A (p.Gly406Arg) c.1219G>A (p.Gly407Arg) c.1195G>A (p.Gly399Arg) c.1222G>A (p.Gly408Arg) c.1174G>A (p.Gly392Arg) c.1207G>A (p.Gly403Arg) c.1276G>A (p.Gly426Arg) c.1255G>A (p.Gly419Arg) c.1252G>A (p.Gly418Arg) c.1234G>A (p.Gly412Arg) c.1198G>A (p.Gly400Arg) c.1177G>A (p.Gly393Arg) c.421+30642C>T (n.421+30642C>T) n.440+30642C>T n.242+38037C>T c.940G>A (p.Gly314Arg) c.1354G>A (p.Gly452Arg) | |
6 | g.32293452T>A | CA363561668 | TSBP1,TSBP1-AS1 | c.1215A>T (p.Lys405Asn) c.1218A>T (p.Lys406Asn) c.1194A>T (p.Lys398Asn) c.1221A>T (p.Lys407Asn) c.1173A>T (p.Lys391Asn) c.1206A>T (p.Lys402Asn) c.1275A>T (p.Lys425Asn) c.1254A>T (p.Lys418Asn) c.1251A>T (p.Lys417Asn) c.1233A>T (p.Lys411Asn) c.1197A>T (p.Lys399Asn) c.1176A>T (p.Lys392Asn) c.421+30643T>A (n.421+30643T>A) n.440+30643T>A n.242+38038T>A c.939A>T (p.Lys313Asn) c.1353A>T (p.Lys451Asn) | gnomAD v4 |
6 | g.32293452T>C | CA449829753 | TSBP1,TSBP1-AS1 | c.1215A>G (p.Lys405=) c.1218A>G (p.Lys406=) c.1194A>G (p.Lys398=) c.1221A>G (p.Lys407=) c.1173A>G (p.Lys391=) c.1206A>G (p.Lys402=) c.1275A>G (p.Lys425=) c.1254A>G (p.Lys418=) c.1251A>G (p.Lys417=) c.1233A>G (p.Lys411=) c.1197A>G (p.Lys399=) c.1176A>G (p.Lys392=) c.421+30643T>C (n.421+30643T>C) n.440+30643T>C n.242+38038T>C c.939A>G (p.Lys313=) c.1353A>G (p.Lys451=) | |
6 | g.32293452T>G | CA363561669 | TSBP1,TSBP1-AS1 | c.1215A>C (p.Lys405Asn) c.1218A>C (p.Lys406Asn) c.1194A>C (p.Lys398Asn) c.1221A>C (p.Lys407Asn) c.1173A>C (p.Lys391Asn) c.1206A>C (p.Lys402Asn) c.1275A>C (p.Lys425Asn) c.1254A>C (p.Lys418Asn) c.1251A>C (p.Lys417Asn) c.1233A>C (p.Lys411Asn) c.1197A>C (p.Lys399Asn) c.1176A>C (p.Lys392Asn) c.421+30643T>G (n.421+30643T>G) n.440+30643T>G n.242+38038T>G c.939A>C (p.Lys313Asn) c.1353A>C (p.Lys451Asn) | |
6 | g.32293453T>A | CA363561670 | TSBP1,TSBP1-AS1 | c.1214A>T (p.Lys405Ile) c.1217A>T (p.Lys406Ile) c.1193A>T (p.Lys398Ile) c.1220A>T (p.Lys407Ile) c.1172A>T (p.Lys391Ile) c.1205A>T (p.Lys402Ile) c.1274A>T (p.Lys425Ile) c.1253A>T (p.Lys418Ile) c.1250A>T (p.Lys417Ile) c.1232A>T (p.Lys411Ile) c.1196A>T (p.Lys399Ile) c.1175A>T (p.Lys392Ile) c.421+30644T>A (n.421+30644T>A) n.440+30644T>A n.242+38039T>A c.938A>T (p.Lys313Ile) c.1352A>T (p.Lys451Ile) | |
6 | g.32293453T>C | CA363561671 | TSBP1,TSBP1-AS1 | c.1214A>G (p.Lys405Arg) c.1217A>G (p.Lys406Arg) c.1193A>G (p.Lys398Arg) c.1220A>G (p.Lys407Arg) c.1172A>G (p.Lys391Arg) c.1205A>G (p.Lys402Arg) c.1274A>G (p.Lys425Arg) c.1253A>G (p.Lys418Arg) c.1250A>G (p.Lys417Arg) c.1232A>G (p.Lys411Arg) c.1196A>G (p.Lys399Arg) c.1175A>G (p.Lys392Arg) c.421+30644T>C (n.421+30644T>C) n.440+30644T>C n.242+38039T>C c.938A>G (p.Lys313Arg) c.1352A>G (p.Lys451Arg) | |
6 | g.32293453T>G | CA363561672 | TSBP1,TSBP1-AS1 | c.1214A>C (p.Lys405Thr) c.1217A>C (p.Lys406Thr) c.1193A>C (p.Lys398Thr) c.1220A>C (p.Lys407Thr) c.1172A>C (p.Lys391Thr) c.1205A>C (p.Lys402Thr) c.1274A>C (p.Lys425Thr) c.1253A>C (p.Lys418Thr) c.1250A>C (p.Lys417Thr) c.1232A>C (p.Lys411Thr) c.1196A>C (p.Lys399Thr) c.1175A>C (p.Lys392Thr) c.421+30644T>G (n.421+30644T>G) n.440+30644T>G n.242+38039T>G c.938A>C (p.Lys313Thr) c.1352A>C (p.Lys451Thr) | |
6 | g.32293454T>A | CA363561674 | TSBP1,TSBP1-AS1 | c.1213A>T (p.Lys405Ter) c.1216A>T (p.Lys406Ter) c.1192A>T (p.Lys398Ter) c.1219A>T (p.Lys407Ter) c.1171A>T (p.Lys391Ter) c.1204A>T (p.Lys402Ter) c.1273A>T (p.Lys425Ter) c.1252A>T (p.Lys418Ter) c.1249A>T (p.Lys417Ter) c.1231A>T (p.Lys411Ter) c.1195A>T (p.Lys399Ter) c.1174A>T (p.Lys392Ter) c.421+30645T>A (n.421+30645T>A) n.440+30645T>A n.242+38040T>A c.937A>T (p.Lys313Ter) c.1351A>T (p.Lys451Ter) | |
6 | g.32293454T>C | CA363561675 | TSBP1,TSBP1-AS1 | c.1213A>G (p.Lys405Glu) c.1216A>G (p.Lys406Glu) c.1192A>G (p.Lys398Glu) c.1219A>G (p.Lys407Glu) c.1171A>G (p.Lys391Glu) c.1204A>G (p.Lys402Glu) c.1273A>G (p.Lys425Glu) c.1252A>G (p.Lys418Glu) c.1249A>G (p.Lys417Glu) c.1231A>G (p.Lys411Glu) c.1195A>G (p.Lys399Glu) c.1174A>G (p.Lys392Glu) c.421+30645T>C (n.421+30645T>C) n.440+30645T>C n.242+38040T>C c.937A>G (p.Lys313Glu) c.1351A>G (p.Lys451Glu) | gnomAD v4 |
6 | g.32293454T>G | CA363561673 | TSBP1,TSBP1-AS1 | c.1213A>C (p.Lys405Gln) c.1216A>C (p.Lys406Gln) c.1192A>C (p.Lys398Gln) c.1219A>C (p.Lys407Gln) c.1171A>C (p.Lys391Gln) c.1204A>C (p.Lys402Gln) c.1273A>C (p.Lys425Gln) c.1252A>C (p.Lys418Gln) c.1249A>C (p.Lys417Gln) c.1231A>C (p.Lys411Gln) c.1195A>C (p.Lys399Gln) c.1174A>C (p.Lys392Gln) c.421+30645T>G (n.421+30645T>G) n.440+30645T>G n.242+38040T>G c.937A>C (p.Lys313Gln) c.1351A>C (p.Lys451Gln) | |
6 | g.32293455C>A | CA449829754 | TSBP1,TSBP1-AS1 | c.1212G>T (p.Leu404=) c.1215G>T (p.Leu405=) c.1191G>T (p.Leu397=) c.1218G>T (p.Leu406=) c.1170G>T (p.Leu390=) c.1203G>T (p.Leu401=) c.1272G>T (p.Leu424=) c.1251G>T (p.Leu417=) c.1248G>T (p.Leu416=) c.1230G>T (p.Leu410=) c.1194G>T (p.Leu398=) c.1173G>T (p.Leu391=) c.421+30646C>A (n.421+30646C>A) n.440+30646C>A n.242+38041C>A c.936G>T (p.Leu312=) c.1350G>T (p.Leu450=) | |
6 | g.32293455C>G | CA449829756 | TSBP1,TSBP1-AS1 | c.1212G>C (p.Leu404=) c.1215G>C (p.Leu405=) c.1191G>C (p.Leu397=) c.1218G>C (p.Leu406=) c.1170G>C (p.Leu390=) c.1203G>C (p.Leu401=) c.1272G>C (p.Leu424=) c.1251G>C (p.Leu417=) c.1248G>C (p.Leu416=) c.1230G>C (p.Leu410=) c.1194G>C (p.Leu398=) c.1173G>C (p.Leu391=) c.421+30646C>G (n.421+30646C>G) n.440+30646C>G n.242+38041C>G c.936G>C (p.Leu312=) c.1350G>C (p.Leu450=) | |
6 | g.32293455C>T | CA449829755 | TSBP1,TSBP1-AS1 | c.1212G>A (p.Leu404=) c.1215G>A (p.Leu405=) c.1191G>A (p.Leu397=) c.1218G>A (p.Leu406=) c.1170G>A (p.Leu390=) c.1203G>A (p.Leu401=) c.1272G>A (p.Leu424=) c.1251G>A (p.Leu417=) c.1248G>A (p.Leu416=) c.1230G>A (p.Leu410=) c.1194G>A (p.Leu398=) c.1173G>A (p.Leu391=) c.421+30646C>T (n.421+30646C>T) n.440+30646C>T n.242+38041C>T c.936G>A (p.Leu312=) c.1350G>A (p.Leu450=) | |
6 | g.32293456A= | CA1619500832 | TSBP1,TSBP1-AS1 | c.1211T= (p.Leu404=) c.1214T= (p.Leu405=) c.1190T= (p.Leu397=) c.1217T= (p.Leu406=) c.1169T= (p.Leu390=) c.1202T= (p.Leu401=) c.1271T= (p.Leu424=) c.1250T= (p.Leu417=) c.1247T= (p.Leu416=) c.1229T= (p.Leu410=) c.1193T= (p.Leu398=) c.1172T= (p.Leu391=) c.421+30647A= (n.421+30647A=) n.440+30647A= n.242+38042A= c.935T= (p.Leu312=) c.1349T= (p.Leu450=) | |
6 | g.32293456A>C | CA363561676 | TSBP1,TSBP1-AS1 | c.1211T>G (p.Leu404Arg) c.1214T>G (p.Leu405Arg) c.1190T>G (p.Leu397Arg) c.1217T>G (p.Leu406Arg) c.1169T>G (p.Leu390Arg) c.1202T>G (p.Leu401Arg) c.1271T>G (p.Leu424Arg) c.1250T>G (p.Leu417Arg) c.1247T>G (p.Leu416Arg) c.1229T>G (p.Leu410Arg) c.1193T>G (p.Leu398Arg) c.1172T>G (p.Leu391Arg) c.421+30647A>C (n.421+30647A>C) n.440+30647A>C n.242+38042A>C c.935T>G (p.Leu312Arg) c.1349T>G (p.Leu450Arg) | |
6 | g.32293456A>G | CA363561677 | TSBP1,TSBP1-AS1 | c.1211T>C (p.Leu404Pro) c.1214T>C (p.Leu405Pro) c.1190T>C (p.Leu397Pro) c.1217T>C (p.Leu406Pro) c.1169T>C (p.Leu390Pro) c.1202T>C (p.Leu401Pro) c.1271T>C (p.Leu424Pro) c.1250T>C (p.Leu417Pro) c.1247T>C (p.Leu416Pro) c.1229T>C (p.Leu410Pro) c.1193T>C (p.Leu398Pro) c.1172T>C (p.Leu391Pro) c.421+30647A>G (n.421+30647A>G) n.440+30647A>G n.242+38042A>G c.935T>C (p.Leu312Pro) c.1349T>C (p.Leu450Pro) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.32293456A>T | CA363561678 | TSBP1,TSBP1-AS1 | c.1211T>A (p.Leu404Gln) c.1214T>A (p.Leu405Gln) c.1190T>A (p.Leu397Gln) c.1217T>A (p.Leu406Gln) c.1169T>A (p.Leu390Gln) c.1202T>A (p.Leu401Gln) c.1271T>A (p.Leu424Gln) c.1250T>A (p.Leu417Gln) c.1247T>A (p.Leu416Gln) c.1229T>A (p.Leu410Gln) c.1193T>A (p.Leu398Gln) c.1172T>A (p.Leu391Gln) c.421+30647A>T (n.421+30647A>T) n.440+30647A>T n.242+38042A>T c.935T>A (p.Leu312Gln) c.1349T>A (p.Leu450Gln) | |
6 | g.32293457G>A | CA449829758 | TSBP1,TSBP1-AS1 | c.1210C>T (p.Leu404=) c.1213C>T (p.Leu405=) c.1189C>T (p.Leu397=) c.1216C>T (p.Leu406=) c.1168C>T (p.Leu390=) c.1201C>T (p.Leu401=) c.1270C>T (p.Leu424=) c.1249C>T (p.Leu417=) c.1246C>T (p.Leu416=) c.1228C>T (p.Leu410=) c.1192C>T (p.Leu398=) c.1171C>T (p.Leu391=) c.421+30648G>A (n.421+30648G>A) n.440+30648G>A n.242+38043G>A c.934C>T (p.Leu312=) c.1348C>T (p.Leu450=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.32293457G>C | CA363561679 | TSBP1,TSBP1-AS1 | c.1210C>G (p.Leu404Val) c.1213C>G (p.Leu405Val) c.1189C>G (p.Leu397Val) c.1216C>G (p.Leu406Val) c.1168C>G (p.Leu390Val) c.1201C>G (p.Leu401Val) c.1270C>G (p.Leu424Val) c.1249C>G (p.Leu417Val) c.1246C>G (p.Leu416Val) c.1228C>G (p.Leu410Val) c.1192C>G (p.Leu398Val) c.1171C>G (p.Leu391Val) c.421+30648G>C (n.421+30648G>C) n.440+30648G>C n.242+38043G>C c.934C>G (p.Leu312Val) c.1348C>G (p.Leu450Val) | |
6 | g.32293457G= | CA1619500833 | TSBP1,TSBP1-AS1 | c.1210C= (p.Leu404=) c.1213C= (p.Leu405=) c.1189C= (p.Leu397=) c.1216C= (p.Leu406=) c.1168C= (p.Leu390=) c.1201C= (p.Leu401=) c.1270C= (p.Leu424=) c.1249C= (p.Leu417=) c.1246C= (p.Leu416=) c.1228C= (p.Leu410=) c.1192C= (p.Leu398=) c.1171C= (p.Leu391=) c.421+30648G= (n.421+30648G=) n.440+30648G= n.242+38043G= c.934C= (p.Leu312=) c.1348C= (p.Leu450=) | |
6 | g.32293457G>T | CA363561680 | TSBP1,TSBP1-AS1 | c.1210C>A (p.Leu404Met) c.1213C>A (p.Leu405Met) c.1189C>A (p.Leu397Met) c.1216C>A (p.Leu406Met) c.1168C>A (p.Leu390Met) c.1201C>A (p.Leu401Met) c.1270C>A (p.Leu424Met) c.1249C>A (p.Leu417Met) c.1246C>A (p.Leu416Met) c.1228C>A (p.Leu410Met) c.1192C>A (p.Leu398Met) c.1171C>A (p.Leu391Met) c.421+30648G>T (n.421+30648G>T) n.440+30648G>T n.242+38043G>T c.934C>A (p.Leu312Met) c.1348C>A (p.Leu450Met) | |
6 | g.32293458T>A | CA449829761 | TSBP1,TSBP1-AS1 | c.1209A>T (p.Val403=) c.1212A>T (p.Val404=) c.1188A>T (p.Val396=) c.1215A>T (p.Val405=) c.1167A>T (p.Val389=) c.1200A>T (p.Val400=) c.1269A>T (p.Val423=) c.1248A>T (p.Val416=) c.1245A>T (p.Val415=) c.1227A>T (p.Val409=) c.1191A>T (p.Val397=) c.1170A>T (p.Val390=) c.421+30649T>A (n.421+30649T>A) n.440+30649T>A n.242+38044T>A c.933A>T (p.Val311=) c.1347A>T (p.Val449=) | |
6 | g.32293458T>C | CA449829762 | TSBP1,TSBP1-AS1 | c.1209A>G (p.Val403=) c.1212A>G (p.Val404=) c.1188A>G (p.Val396=) c.1215A>G (p.Val405=) c.1167A>G (p.Val389=) c.1200A>G (p.Val400=) c.1269A>G (p.Val423=) c.1248A>G (p.Val416=) c.1245A>G (p.Val415=) c.1227A>G (p.Val409=) c.1191A>G (p.Val397=) c.1170A>G (p.Val390=) c.421+30649T>C (n.421+30649T>C) n.440+30649T>C n.242+38044T>C c.933A>G (p.Val311=) c.1347A>G (p.Val449=) | |
6 | g.32293458T>G | CA449829763 | TSBP1,TSBP1-AS1 | c.1209A>C (p.Val403=) c.1212A>C (p.Val404=) c.1188A>C (p.Val396=) c.1215A>C (p.Val405=) c.1167A>C (p.Val389=) c.1200A>C (p.Val400=) c.1269A>C (p.Val423=) c.1248A>C (p.Val416=) c.1245A>C (p.Val415=) c.1227A>C (p.Val409=) c.1191A>C (p.Val397=) c.1170A>C (p.Val390=) c.421+30649T>G (n.421+30649T>G) n.440+30649T>G n.242+38044T>G c.933A>C (p.Val311=) c.1347A>C (p.Val449=) | |
6 | g.32293459A>C | CA363561683 | TSBP1,TSBP1-AS1 | c.1208T>G (p.Val403Gly) c.1211T>G (p.Val404Gly) c.1187T>G (p.Val396Gly) c.1214T>G (p.Val405Gly) c.1166T>G (p.Val389Gly) c.1199T>G (p.Val400Gly) c.1268T>G (p.Val423Gly) c.1247T>G (p.Val416Gly) c.1244T>G (p.Val415Gly) c.1226T>G (p.Val409Gly) c.1190T>G (p.Val397Gly) c.1169T>G (p.Val390Gly) c.421+30650A>C (n.421+30650A>C) n.440+30650A>C n.242+38045A>C c.932T>G (p.Val311Gly) c.1346T>G (p.Val449Gly) | |
6 | g.32293459A>G | CA363561682 | TSBP1,TSBP1-AS1 | c.1208T>C (p.Val403Ala) c.1211T>C (p.Val404Ala) c.1187T>C (p.Val396Ala) c.1214T>C (p.Val405Ala) c.1166T>C (p.Val389Ala) c.1199T>C (p.Val400Ala) c.1268T>C (p.Val423Ala) c.1247T>C (p.Val416Ala) c.1244T>C (p.Val415Ala) c.1226T>C (p.Val409Ala) c.1190T>C (p.Val397Ala) c.1169T>C (p.Val390Ala) c.421+30650A>G (n.421+30650A>G) n.440+30650A>G n.242+38045A>G c.932T>C (p.Val311Ala) c.1346T>C (p.Val449Ala) | gnomAD v4 |
6 | g.32293459A>T | CA363561681 | TSBP1,TSBP1-AS1 | c.1208T>A (p.Val403Glu) c.1211T>A (p.Val404Glu) c.1187T>A (p.Val396Glu) c.1214T>A (p.Val405Glu) c.1166T>A (p.Val389Glu) c.1199T>A (p.Val400Glu) c.1268T>A (p.Val423Glu) c.1247T>A (p.Val416Glu) c.1244T>A (p.Val415Glu) c.1226T>A (p.Val409Glu) c.1190T>A (p.Val397Glu) c.1169T>A (p.Val390Glu) c.421+30650A>T (n.421+30650A>T) n.440+30650A>T n.242+38045A>T c.932T>A (p.Val311Glu) c.1346T>A (p.Val449Glu) | |
6 | g.32293460C>A | CA363561684 | TSBP1,TSBP1-AS1 | c.1207G>T (p.Val403Leu) c.1210G>T (p.Val404Leu) c.1186G>T (p.Val396Leu) c.1213G>T (p.Val405Leu) c.1165G>T (p.Val389Leu) c.1198G>T (p.Val400Leu) c.1267G>T (p.Val423Leu) c.1246G>T (p.Val416Leu) c.1243G>T (p.Val415Leu) c.1225G>T (p.Val409Leu) c.1189G>T (p.Val397Leu) c.1168G>T (p.Val390Leu) c.421+30651C>A (n.421+30651C>A) n.440+30651C>A n.242+38046C>A c.931G>T (p.Val311Leu) c.1345G>T (p.Val449Leu) | gnomAD v4 |
6 | g.32293460C>G | CA363561685 | TSBP1,TSBP1-AS1 | c.1207G>C (p.Val403Leu) c.1210G>C (p.Val404Leu) c.1186G>C (p.Val396Leu) c.1213G>C (p.Val405Leu) c.1165G>C (p.Val389Leu) c.1198G>C (p.Val400Leu) c.1267G>C (p.Val423Leu) c.1246G>C (p.Val416Leu) c.1243G>C (p.Val415Leu) c.1225G>C (p.Val409Leu) c.1189G>C (p.Val397Leu) c.1168G>C (p.Val390Leu) c.421+30651C>G (n.421+30651C>G) n.440+30651C>G n.242+38046C>G c.931G>C (p.Val311Leu) c.1345G>C (p.Val449Leu) | |
6 | g.32293460C>T | CA363561686 | TSBP1,TSBP1-AS1 | c.1207G>A (p.Val403Ile) c.1210G>A (p.Val404Ile) c.1186G>A (p.Val396Ile) c.1213G>A (p.Val405Ile) c.1165G>A (p.Val389Ile) c.1198G>A (p.Val400Ile) c.1267G>A (p.Val423Ile) c.1246G>A (p.Val416Ile) c.1243G>A (p.Val415Ile) c.1225G>A (p.Val409Ile) c.1189G>A (p.Val397Ile) c.1168G>A (p.Val390Ile) c.421+30651C>T (n.421+30651C>T) n.440+30651C>T n.242+38046C>T c.931G>A (p.Val311Ile) c.1345G>A (p.Val449Ile) | |
6 | g.32293461A>C | CA449829765 | TSBP1,TSBP1-AS1 | c.1206T>G (p.Val402=) c.1209T>G (p.Val403=) c.1185T>G (p.Val395=) c.1212T>G (p.Val404=) c.1164T>G (p.Val388=) c.1197T>G (p.Val399=) c.1266T>G (p.Val422=) c.1245T>G (p.Val415=) c.1242T>G (p.Val414=) c.1224T>G (p.Val408=) c.1188T>G (p.Val396=) c.1167T>G (p.Val389=) c.421+30652A>C (n.421+30652A>C) n.440+30652A>C n.242+38047A>C c.930T>G (p.Val310=) c.1344T>G (p.Val448=) | |
6 | g.32293461A>G | CA449829766 | TSBP1,TSBP1-AS1 | c.1206T>C (p.Val402=) c.1209T>C (p.Val403=) c.1185T>C (p.Val395=) c.1212T>C (p.Val404=) c.1164T>C (p.Val388=) c.1197T>C (p.Val399=) c.1266T>C (p.Val422=) c.1245T>C (p.Val415=) c.1242T>C (p.Val414=) c.1224T>C (p.Val408=) c.1188T>C (p.Val396=) c.1167T>C (p.Val389=) c.421+30652A>G (n.421+30652A>G) n.440+30652A>G n.242+38047A>G c.930T>C (p.Val310=) c.1344T>C (p.Val448=) | gnomAD v4 |
6 | g.32293461A>T | CA449829767 | TSBP1,TSBP1-AS1 | c.1206T>A (p.Val402=) c.1209T>A (p.Val403=) c.1185T>A (p.Val395=) c.1212T>A (p.Val404=) c.1164T>A (p.Val388=) c.1197T>A (p.Val399=) c.1266T>A (p.Val422=) c.1245T>A (p.Val415=) c.1242T>A (p.Val414=) c.1224T>A (p.Val408=) c.1188T>A (p.Val396=) c.1167T>A (p.Val389=) c.421+30652A>T (n.421+30652A>T) n.440+30652A>T n.242+38047A>T c.930T>A (p.Val310=) c.1344T>A (p.Val448=) | |
6 | g.32293462A= | CA1619500834 | TSBP1,TSBP1-AS1 | c.1205T= (p.Val402=) c.1208T= (p.Val403=) c.1184T= (p.Val395=) c.1211T= (p.Val404=) c.1163T= (p.Val388=) c.1196T= (p.Val399=) c.1265T= (p.Val422=) c.1244T= (p.Val415=) c.1241T= (p.Val414=) c.1223T= (p.Val408=) c.1187T= (p.Val396=) c.1166T= (p.Val389=) c.421+30653A= (n.421+30653A=) n.440+30653A= n.242+38048A= c.929T= (p.Val310=) c.1343T= (p.Val448=) | |
6 | g.32293462A>C | CA363561687 | TSBP1,TSBP1-AS1 | c.1205T>G (p.Val402Gly) c.1208T>G (p.Val403Gly) c.1184T>G (p.Val395Gly) c.1211T>G (p.Val404Gly) c.1163T>G (p.Val388Gly) c.1196T>G (p.Val399Gly) c.1265T>G (p.Val422Gly) c.1244T>G (p.Val415Gly) c.1241T>G (p.Val414Gly) c.1223T>G (p.Val408Gly) c.1187T>G (p.Val396Gly) c.1166T>G (p.Val389Gly) c.421+30653A>C (n.421+30653A>C) n.440+30653A>C n.242+38048A>C c.929T>G (p.Val310Gly) c.1343T>G (p.Val448Gly) | |
6 | g.32293462A>G | CA363561688 | TSBP1,TSBP1-AS1 | c.1205T>C (p.Val402Ala) c.1208T>C (p.Val403Ala) c.1184T>C (p.Val395Ala) c.1211T>C (p.Val404Ala) c.1163T>C (p.Val388Ala) c.1196T>C (p.Val399Ala) c.1265T>C (p.Val422Ala) c.1244T>C (p.Val415Ala) c.1241T>C (p.Val414Ala) c.1223T>C (p.Val408Ala) c.1187T>C (p.Val396Ala) c.1166T>C (p.Val389Ala) c.421+30653A>G (n.421+30653A>G) n.440+30653A>G n.242+38048A>G c.929T>C (p.Val310Ala) c.1343T>C (p.Val448Ala) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.32293462A>T | CA363561689 | TSBP1,TSBP1-AS1 | c.1205T>A (p.Val402Asp) c.1208T>A (p.Val403Asp) c.1184T>A (p.Val395Asp) c.1211T>A (p.Val404Asp) c.1163T>A (p.Val388Asp) c.1196T>A (p.Val399Asp) c.1265T>A (p.Val422Asp) c.1244T>A (p.Val415Asp) c.1241T>A (p.Val414Asp) c.1223T>A (p.Val408Asp) c.1187T>A (p.Val396Asp) c.1166T>A (p.Val389Asp) c.421+30653A>T (n.421+30653A>T) n.440+30653A>T n.242+38048A>T c.929T>A (p.Val310Asp) c.1343T>A (p.Val448Asp) | |
6 | g.32293463C>A | CA363561690 | TSBP1,TSBP1-AS1 | c.1204G>T (p.Val402Phe) c.1207G>T (p.Val403Phe) c.1183G>T (p.Val395Phe) c.1210G>T (p.Val404Phe) c.1162G>T (p.Val388Phe) c.1195G>T (p.Val399Phe) c.1264G>T (p.Val422Phe) c.1243G>T (p.Val415Phe) c.1240G>T (p.Val414Phe) c.1222G>T (p.Val408Phe) c.1186G>T (p.Val396Phe) c.1165G>T (p.Val389Phe) c.421+30654C>A (n.421+30654C>A) n.440+30654C>A n.242+38049C>A c.928G>T (p.Val310Phe) c.1342G>T (p.Val448Phe) | |
6 | g.32293463C>G | CA363561692 | TSBP1,TSBP1-AS1 | c.1204G>C (p.Val402Leu) c.1207G>C (p.Val403Leu) c.1183G>C (p.Val395Leu) c.1210G>C (p.Val404Leu) c.1162G>C (p.Val388Leu) c.1195G>C (p.Val399Leu) c.1264G>C (p.Val422Leu) c.1243G>C (p.Val415Leu) c.1240G>C (p.Val414Leu) c.1222G>C (p.Val408Leu) c.1186G>C (p.Val396Leu) c.1165G>C (p.Val389Leu) c.421+30654C>G (n.421+30654C>G) n.440+30654C>G n.242+38049C>G c.928G>C (p.Val310Leu) c.1342G>C (p.Val448Leu) | |
6 | g.32293463C>T | CA363561691 | TSBP1,TSBP1-AS1 | c.1204G>A (p.Val402Ile) c.1207G>A (p.Val403Ile) c.1183G>A (p.Val395Ile) c.1210G>A (p.Val404Ile) c.1162G>A (p.Val388Ile) c.1195G>A (p.Val399Ile) c.1264G>A (p.Val422Ile) c.1243G>A (p.Val415Ile) c.1240G>A (p.Val414Ile) c.1222G>A (p.Val408Ile) c.1186G>A (p.Val396Ile) c.1165G>A (p.Val389Ile) c.421+30654C>T (n.421+30654C>T) n.440+30654C>T n.242+38049C>T c.928G>A (p.Val310Ile) c.1342G>A (p.Val448Ile) | |
6 | g.32293464T>A | CA449829772 | TSBP1,TSBP1-AS1 | c.1203A>T (p.Ser401=) c.1206A>T (p.Ser402=) c.1182A>T (p.Ser394=) c.1209A>T (p.Ser403=) c.1161A>T (p.Ser387=) c.1194A>T (p.Ser398=) c.1263A>T (p.Ser421=) c.1242A>T (p.Ser414=) c.1239A>T (p.Ser413=) c.1221A>T (p.Ser407=) c.1185A>T (p.Ser395=) c.1164A>T (p.Ser388=) c.421+30655T>A (n.421+30655T>A) n.440+30655T>A n.242+38050T>A c.927A>T (p.Ser309=) c.1341A>T (p.Ser447=) | |
6 | g.32293464T>C | CA136929578 | TSBP1,TSBP1-AS1 | c.1203A>G (p.Ser401=) c.1206A>G (p.Ser402=) c.1182A>G (p.Ser394=) c.1209A>G (p.Ser403=) c.1161A>G (p.Ser387=) c.1194A>G (p.Ser398=) c.1263A>G (p.Ser421=) c.1242A>G (p.Ser414=) c.1239A>G (p.Ser413=) c.1221A>G (p.Ser407=) c.1185A>G (p.Ser395=) c.1164A>G (p.Ser388=) c.421+30655T>C (n.421+30655T>C) n.440+30655T>C n.242+38050T>C c.927A>G (p.Ser309=) c.1341A>G (p.Ser447=) | dbSNP |
6 | g.32293464T>G | CA449829771 | TSBP1,TSBP1-AS1 | c.1203A>C (p.Ser401=) c.1206A>C (p.Ser402=) c.1182A>C (p.Ser394=) c.1209A>C (p.Ser403=) c.1161A>C (p.Ser387=) c.1194A>C (p.Ser398=) c.1263A>C (p.Ser421=) c.1242A>C (p.Ser414=) c.1239A>C (p.Ser413=) c.1221A>C (p.Ser407=) c.1185A>C (p.Ser395=) c.1164A>C (p.Ser388=) c.421+30655T>G (n.421+30655T>G) n.440+30655T>G n.242+38050T>G c.927A>C (p.Ser309=) c.1341A>C (p.Ser447=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.32293464T= | CA1619500835 | TSBP1,TSBP1-AS1 | c.1203A= (p.Ser401=) c.1206A= (p.Ser402=) c.1182A= (p.Ser394=) c.1209A= (p.Ser403=) c.1161A= (p.Ser387=) c.1194A= (p.Ser398=) c.1263A= (p.Ser421=) c.1242A= (p.Ser414=) c.1239A= (p.Ser413=) c.1221A= (p.Ser407=) c.1185A= (p.Ser395=) c.1164A= (p.Ser388=) c.421+30655T= (n.421+30655T=) n.440+30655T= n.242+38050T= c.927A= (p.Ser309=) c.1341A= (p.Ser447=) | |
6 | g.32293465G>A | CA136929583 | TSBP1,TSBP1-AS1 | c.1202C>T (p.Ser401Leu) c.1205C>T (p.Ser402Leu) c.1181C>T (p.Ser394Leu) c.1208C>T (p.Ser403Leu) c.1160C>T (p.Ser387Leu) c.1193C>T (p.Ser398Leu) c.1262C>T (p.Ser421Leu) c.1241C>T (p.Ser414Leu) c.1238C>T (p.Ser413Leu) c.1220C>T (p.Ser407Leu) c.1184C>T (p.Ser395Leu) c.1163C>T (p.Ser388Leu) c.421+30656G>A (n.421+30656G>A) n.440+30656G>A n.242+38051G>A c.926C>T (p.Ser309Leu) c.1340C>T (p.Ser447Leu) | dbSNP |
6 | g.32293465G>C | CA3740508 | TSBP1,TSBP1-AS1 | c.1202C>G (p.Ser401Ter) c.1205C>G (p.Ser402Ter) c.1181C>G (p.Ser394Ter) c.1208C>G (p.Ser403Ter) c.1160C>G (p.Ser387Ter) c.1193C>G (p.Ser398Ter) c.1262C>G (p.Ser421Ter) c.1241C>G (p.Ser414Ter) c.1238C>G (p.Ser413Ter) c.1220C>G (p.Ser407Ter) c.1184C>G (p.Ser395Ter) c.1163C>G (p.Ser388Ter) c.421+30656G>C (n.421+30656G>C) n.440+30656G>C n.242+38051G>C c.926C>G (p.Ser309Ter) c.1340C>G (p.Ser447Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32293465G= | CA1619500836 | TSBP1,TSBP1-AS1 | c.1202C= (p.Ser401=) c.1205C= (p.Ser402=) c.1181C= (p.Ser394=) c.1208C= (p.Ser403=) c.1160C= (p.Ser387=) c.1193C= (p.Ser398=) c.1262C= (p.Ser421=) c.1241C= (p.Ser414=) c.1238C= (p.Ser413=) c.1220C= (p.Ser407=) c.1184C= (p.Ser395=) c.1163C= (p.Ser388=) c.421+30656G= (n.421+30656G=) n.440+30656G= n.242+38051G= c.926C= (p.Ser309=) c.1340C= (p.Ser447=) | |
6 | g.32293465G>T | CA363561693 | TSBP1,TSBP1-AS1 | c.1202C>A (p.Ser401Ter) c.1205C>A (p.Ser402Ter) c.1181C>A (p.Ser394Ter) c.1208C>A (p.Ser403Ter) c.1160C>A (p.Ser387Ter) c.1193C>A (p.Ser398Ter) c.1262C>A (p.Ser421Ter) c.1241C>A (p.Ser414Ter) c.1238C>A (p.Ser413Ter) c.1220C>A (p.Ser407Ter) c.1184C>A (p.Ser395Ter) c.1163C>A (p.Ser388Ter) c.421+30656G>T (n.421+30656G>T) n.440+30656G>T n.242+38051G>T c.926C>A (p.Ser309Ter) c.1340C>A (p.Ser447Ter) | |
6 | g.32293466A>C | CA363561694 | TSBP1,TSBP1-AS1 | c.1201T>G (p.Ser401Ala) c.1204T>G (p.Ser402Ala) c.1180T>G (p.Ser394Ala) c.1207T>G (p.Ser403Ala) c.1159T>G (p.Ser387Ala) c.1192T>G (p.Ser398Ala) c.1261T>G (p.Ser421Ala) c.1240T>G (p.Ser414Ala) c.1237T>G (p.Ser413Ala) c.1219T>G (p.Ser407Ala) c.1183T>G (p.Ser395Ala) c.1162T>G (p.Ser388Ala) c.421+30657A>C (n.421+30657A>C) n.440+30657A>C n.242+38052A>C c.925T>G (p.Ser309Ala) c.1339T>G (p.Ser447Ala) | |
6 | g.32293466A>G | CA363561695 | TSBP1,TSBP1-AS1 | c.1201T>C (p.Ser401Pro) c.1204T>C (p.Ser402Pro) c.1180T>C (p.Ser394Pro) c.1207T>C (p.Ser403Pro) c.1159T>C (p.Ser387Pro) c.1192T>C (p.Ser398Pro) c.1261T>C (p.Ser421Pro) c.1240T>C (p.Ser414Pro) c.1237T>C (p.Ser413Pro) c.1219T>C (p.Ser407Pro) c.1183T>C (p.Ser395Pro) c.1162T>C (p.Ser388Pro) c.421+30657A>G (n.421+30657A>G) n.440+30657A>G n.242+38052A>G c.925T>C (p.Ser309Pro) c.1339T>C (p.Ser447Pro) | |
6 | g.32293466A>T | CA363561696 | TSBP1,TSBP1-AS1 | c.1201T>A (p.Ser401Thr) c.1204T>A (p.Ser402Thr) c.1180T>A (p.Ser394Thr) c.1207T>A (p.Ser403Thr) c.1159T>A (p.Ser387Thr) c.1192T>A (p.Ser398Thr) c.1261T>A (p.Ser421Thr) c.1240T>A (p.Ser414Thr) c.1237T>A (p.Ser413Thr) c.1219T>A (p.Ser407Thr) c.1183T>A (p.Ser395Thr) c.1162T>A (p.Ser388Thr) c.421+30657A>T (n.421+30657A>T) n.440+30657A>T n.242+38052A>T c.925T>A (p.Ser309Thr) c.1339T>A (p.Ser447Thr) | |
6 | g.32293467C>A | CA363561697 | TSBP1,TSBP1-AS1 | c.1200G>T (p.Glu400Asp) c.1203G>T (p.Glu401Asp) c.1179G>T (p.Glu393Asp) c.1206G>T (p.Glu402Asp) c.1158G>T (p.Glu386Asp) c.1191G>T (p.Glu397Asp) c.1260G>T (p.Glu420Asp) c.1239G>T (p.Glu413Asp) c.1236G>T (p.Glu412Asp) c.1218G>T (p.Glu406Asp) c.1182G>T (p.Glu394Asp) c.1161G>T (p.Glu387Asp) c.421+30658C>A (n.421+30658C>A) n.440+30658C>A n.242+38053C>A c.924G>T (p.Glu308Asp) c.1338G>T (p.Glu446Asp) | |
6 | g.32293467C>G | CA363561698 | TSBP1,TSBP1-AS1 | c.1200G>C (p.Glu400Asp) c.1203G>C (p.Glu401Asp) c.1179G>C (p.Glu393Asp) c.1206G>C (p.Glu402Asp) c.1158G>C (p.Glu386Asp) c.1191G>C (p.Glu397Asp) c.1260G>C (p.Glu420Asp) c.1239G>C (p.Glu413Asp) c.1236G>C (p.Glu412Asp) c.1218G>C (p.Glu406Asp) c.1182G>C (p.Glu394Asp) c.1161G>C (p.Glu387Asp) c.421+30658C>G (n.421+30658C>G) n.440+30658C>G n.242+38053C>G c.924G>C (p.Glu308Asp) c.1338G>C (p.Glu446Asp) | |
6 | g.32293467C>T | CA449829773 | TSBP1,TSBP1-AS1 | c.1200G>A (p.Glu400=) c.1203G>A (p.Glu401=) c.1179G>A (p.Glu393=) c.1206G>A (p.Glu402=) c.1158G>A (p.Glu386=) c.1191G>A (p.Glu397=) c.1260G>A (p.Glu420=) c.1239G>A (p.Glu413=) c.1236G>A (p.Glu412=) c.1218G>A (p.Glu406=) c.1182G>A (p.Glu394=) c.1161G>A (p.Glu387=) c.421+30658C>T (n.421+30658C>T) n.440+30658C>T n.242+38053C>T c.924G>A (p.Glu308=) c.1338G>A (p.Glu446=) | |
6 | g.32293468T>A | CA363561699 | TSBP1,TSBP1-AS1 | c.1199A>T (p.Glu400Val) c.1202A>T (p.Glu401Val) c.1178A>T (p.Glu393Val) c.1205A>T (p.Glu402Val) c.1157A>T (p.Glu386Val) c.1190A>T (p.Glu397Val) c.1259A>T (p.Glu420Val) c.1238A>T (p.Glu413Val) c.1235A>T (p.Glu412Val) c.1217A>T (p.Glu406Val) c.1181A>T (p.Glu394Val) c.1160A>T (p.Glu387Val) c.421+30659T>A (n.421+30659T>A) n.440+30659T>A n.242+38054T>A c.923A>T (p.Glu308Val) c.1337A>T (p.Glu446Val) | |
6 | g.32293468T>C | CA363561700 | TSBP1,TSBP1-AS1 | c.1199A>G (p.Glu400Gly) c.1202A>G (p.Glu401Gly) c.1178A>G (p.Glu393Gly) c.1205A>G (p.Glu402Gly) c.1157A>G (p.Glu386Gly) c.1190A>G (p.Glu397Gly) c.1259A>G (p.Glu420Gly) c.1238A>G (p.Glu413Gly) c.1235A>G (p.Glu412Gly) c.1217A>G (p.Glu406Gly) c.1181A>G (p.Glu394Gly) c.1160A>G (p.Glu387Gly) c.421+30659T>C (n.421+30659T>C) n.440+30659T>C n.242+38054T>C c.923A>G (p.Glu308Gly) c.1337A>G (p.Glu446Gly) | |
6 | g.32293468T>G | CA363561701 | TSBP1,TSBP1-AS1 | c.1199A>C (p.Glu400Ala) c.1202A>C (p.Glu401Ala) c.1178A>C (p.Glu393Ala) c.1205A>C (p.Glu402Ala) c.1157A>C (p.Glu386Ala) c.1190A>C (p.Glu397Ala) c.1259A>C (p.Glu420Ala) c.1238A>C (p.Glu413Ala) c.1235A>C (p.Glu412Ala) c.1217A>C (p.Glu406Ala) c.1181A>C (p.Glu394Ala) c.1160A>C (p.Glu387Ala) c.421+30659T>G (n.421+30659T>G) n.440+30659T>G n.242+38054T>G c.923A>C (p.Glu308Ala) c.1337A>C (p.Glu446Ala) | |
6 | g.32293468T= | CA1619500837 | TSBP1,TSBP1-AS1 | c.1199A= (p.Glu400=) c.1202A= (p.Glu401=) c.1178A= (p.Glu393=) c.1205A= (p.Glu402=) c.1157A= (p.Glu386=) c.1190A= (p.Glu397=) c.1259A= (p.Glu420=) c.1238A= (p.Glu413=) c.1235A= (p.Glu412=) c.1217A= (p.Glu406=) c.1181A= (p.Glu394=) c.1160A= (p.Glu387=) c.421+30659T= (n.421+30659T=) n.440+30659T= n.242+38054T= c.923A= (p.Glu308=) c.1337A= (p.Glu446=) | |
6 | g.32293469C>A | CA363561702 | TSBP1,TSBP1-AS1 | c.1198G>T (p.Glu400Ter) c.1201G>T (p.Glu401Ter) c.1177G>T (p.Glu393Ter) c.1204G>T (p.Glu402Ter) c.1156G>T (p.Glu386Ter) c.1189G>T (p.Glu397Ter) c.1258G>T (p.Glu420Ter) c.1237G>T (p.Glu413Ter) c.1234G>T (p.Glu412Ter) c.1216G>T (p.Glu406Ter) c.1180G>T (p.Glu394Ter) c.1159G>T (p.Glu387Ter) c.421+30660C>A (n.421+30660C>A) n.440+30660C>A n.242+38055C>A c.922G>T (p.Glu308Ter) c.1336G>T (p.Glu446Ter) | |
6 | g.32293469C>G | CA363561704 | TSBP1,TSBP1-AS1 | c.1198G>C (p.Glu400Gln) c.1201G>C (p.Glu401Gln) c.1177G>C (p.Glu393Gln) c.1204G>C (p.Glu402Gln) c.1156G>C (p.Glu386Gln) c.1189G>C (p.Glu397Gln) c.1258G>C (p.Glu420Gln) c.1237G>C (p.Glu413Gln) c.1234G>C (p.Glu412Gln) c.1216G>C (p.Glu406Gln) c.1180G>C (p.Glu394Gln) c.1159G>C (p.Glu387Gln) c.421+30660C>G (n.421+30660C>G) n.440+30660C>G n.242+38055C>G c.922G>C (p.Glu308Gln) c.1336G>C (p.Glu446Gln) | |
6 | g.32293469C>T | CA363561703 | TSBP1,TSBP1-AS1 | c.1198G>A (p.Glu400Lys) c.1201G>A (p.Glu401Lys) c.1177G>A (p.Glu393Lys) c.1204G>A (p.Glu402Lys) c.1156G>A (p.Glu386Lys) c.1189G>A (p.Glu397Lys) c.1258G>A (p.Glu420Lys) c.1237G>A (p.Glu413Lys) c.1234G>A (p.Glu412Lys) c.1216G>A (p.Glu406Lys) c.1180G>A (p.Glu394Lys) c.1159G>A (p.Glu387Lys) c.421+30660C>T (n.421+30660C>T) n.440+30660C>T n.242+38055C>T c.922G>A (p.Glu308Lys) c.1336G>A (p.Glu446Lys) | |
6 | g.32293471dup | CA823938737 | TSBP1,TSBP1-AS1 | c.1198dup (p.Glu400GlyfsTer16) c.1201dup (p.Glu401GlyfsTer16) c.1177dup (p.Glu393GlyfsTer16) c.1204dup (p.Glu402GlyfsTer16) c.1156dup (p.Glu386GlyfsTer16) c.1189dup (p.Glu397GlyfsTer16) c.1258dup (p.Glu420GlyfsTer16) c.1237dup (p.Glu413GlyfsTer16) c.1234dup (p.Glu412GlyfsTer16) c.1216dup (p.Glu406GlyfsTer16) c.1180dup (p.Glu394GlyfsTer16) c.1159dup (p.Glu387GlyfsTer16) c.421+30662dup (n.421+30662dup) n.440+30662dup n.242+38057dup c.922dup (p.Glu308GlyfsTer16) c.1336dup (p.Glu446GlyfsTer16) | dbSNP |
6 | g.32293470C>A | CA363561705 | TSBP1,TSBP1-AS1 | c.1197G>T (p.Arg399Ser) c.1200G>T (p.Arg400Ser) c.1176G>T (p.Arg392Ser) c.1203G>T (p.Arg401Ser) c.1155G>T (p.Arg385Ser) c.1188G>T (p.Arg396Ser) c.1257G>T (p.Arg419Ser) c.1236G>T (p.Arg412Ser) c.1233G>T (p.Arg411Ser) c.1215G>T (p.Arg405Ser) c.1179G>T (p.Arg393Ser) c.1158G>T (p.Arg386Ser) c.421+30661C>A (n.421+30661C>A) n.440+30661C>A n.242+38056C>A c.921G>T (p.Arg307Ser) c.1335G>T (p.Arg445Ser) | |
6 | g.32293470C= | CA1619500838 | TSBP1,TSBP1-AS1 | c.1197G= (p.Arg399=) c.1200G= (p.Arg400=) c.1176G= (p.Arg392=) c.1203G= (p.Arg401=) c.1155G= (p.Arg385=) c.1188G= (p.Arg396=) c.1257G= (p.Arg419=) c.1236G= (p.Arg412=) c.1233G= (p.Arg411=) c.1215G= (p.Arg405=) c.1179G= (p.Arg393=) c.1158G= (p.Arg386=) c.421+30661C= (n.421+30661C=) n.440+30661C= n.242+38056C= c.921G= (p.Arg307=) c.1335G= (p.Arg445=) | |
6 | g.32293470C>G | CA363561706 | TSBP1,TSBP1-AS1 | c.1197G>C (p.Arg399Ser) c.1200G>C (p.Arg400Ser) c.1176G>C (p.Arg392Ser) c.1203G>C (p.Arg401Ser) c.1155G>C (p.Arg385Ser) c.1188G>C (p.Arg396Ser) c.1257G>C (p.Arg419Ser) c.1236G>C (p.Arg412Ser) c.1233G>C (p.Arg411Ser) c.1215G>C (p.Arg405Ser) c.1179G>C (p.Arg393Ser) c.1158G>C (p.Arg386Ser) c.421+30661C>G (n.421+30661C>G) n.440+30661C>G n.242+38056C>G c.921G>C (p.Arg307Ser) c.1335G>C (p.Arg445Ser) | |
6 | g.32293470C>T | CA3740509 | TSBP1,TSBP1-AS1 | c.1197G>A (p.Arg399=) c.1200G>A (p.Arg400=) c.1176G>A (p.Arg392=) c.1203G>A (p.Arg401=) c.1155G>A (p.Arg385=) c.1188G>A (p.Arg396=) c.1257G>A (p.Arg419=) c.1236G>A (p.Arg412=) c.1233G>A (p.Arg411=) c.1215G>A (p.Arg405=) c.1179G>A (p.Arg393=) c.1158G>A (p.Arg386=) c.421+30661C>T (n.421+30661C>T) n.440+30661C>T n.242+38056C>T c.921G>A (p.Arg307=) c.1335G>A (p.Arg445=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.32293471C>A | CA363561707 | TSBP1,TSBP1-AS1 | c.1196G>T (p.Arg399Met) c.1199G>T (p.Arg400Met) c.1175G>T (p.Arg392Met) c.1202G>T (p.Arg401Met) c.1154G>T (p.Arg385Met) c.1187G>T (p.Arg396Met) c.1256G>T (p.Arg419Met) c.1235G>T (p.Arg412Met) c.1232G>T (p.Arg411Met) c.1214G>T (p.Arg405Met) c.1178G>T (p.Arg393Met) c.1157G>T (p.Arg386Met) c.421+30662C>A (n.421+30662C>A) n.440+30662C>A n.242+38057C>A c.920G>T (p.Arg307Met) c.1334G>T (p.Arg445Met) | |
6 | g.32293471C= | CA1619500839 | TSBP1,TSBP1-AS1 | c.1196G= (p.Arg399=) c.1199G= (p.Arg400=) c.1175G= (p.Arg392=) c.1202G= (p.Arg401=) c.1154G= (p.Arg385=) c.1187G= (p.Arg396=) c.1256G= (p.Arg419=) c.1235G= (p.Arg412=) c.1232G= (p.Arg411=) c.1214G= (p.Arg405=) c.1178G= (p.Arg393=) c.1157G= (p.Arg386=) c.421+30662C= (n.421+30662C=) n.440+30662C= n.242+38057C= c.920G= (p.Arg307=) c.1334G= (p.Arg445=) | |
6 | g.32293471C>G | CA3740510 | TSBP1,TSBP1-AS1 | c.1196G>C (p.Arg399Thr) c.1199G>C (p.Arg400Thr) c.1175G>C (p.Arg392Thr) c.1202G>C (p.Arg401Thr) c.1154G>C (p.Arg385Thr) c.1187G>C (p.Arg396Thr) c.1256G>C (p.Arg419Thr) c.1235G>C (p.Arg412Thr) c.1232G>C (p.Arg411Thr) c.1214G>C (p.Arg405Thr) c.1178G>C (p.Arg393Thr) c.1157G>C (p.Arg386Thr) c.421+30662C>G (n.421+30662C>G) n.440+30662C>G n.242+38057C>G c.920G>C (p.Arg307Thr) c.1334G>C (p.Arg445Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.32293471C>T | CA363561708 | TSBP1,TSBP1-AS1 | c.1196G>A (p.Arg399Lys) c.1199G>A (p.Arg400Lys) c.1175G>A (p.Arg392Lys) c.1202G>A (p.Arg401Lys) c.1154G>A (p.Arg385Lys) c.1187G>A (p.Arg396Lys) c.1256G>A (p.Arg419Lys) c.1235G>A (p.Arg412Lys) c.1232G>A (p.Arg411Lys) c.1214G>A (p.Arg405Lys) c.1178G>A (p.Arg393Lys) c.1157G>A (p.Arg386Lys) c.421+30662C>T (n.421+30662C>T) n.440+30662C>T n.242+38057C>T c.920G>A (p.Arg307Lys) c.1334G>A (p.Arg445Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
6 | g.32293472T>A | CA363561709 | TSBP1,TSBP1-AS1 | c.1195A>T (p.Arg399Trp) c.1198A>T (p.Arg400Trp) c.1174A>T (p.Arg392Trp) c.1201A>T (p.Arg401Trp) c.1153A>T (p.Arg385Trp) c.1186A>T (p.Arg396Trp) c.1255A>T (p.Arg419Trp) c.1234A>T (p.Arg412Trp) c.1231A>T (p.Arg411Trp) c.1213A>T (p.Arg405Trp) c.1177A>T (p.Arg393Trp) c.1156A>T (p.Arg386Trp) c.421+30663T>A (n.421+30663T>A) n.440+30663T>A n.242+38058T>A c.919A>T (p.Arg307Trp) c.1333A>T (p.Arg445Trp) | |
6 | g.32293472T>C | CA363561710 | TSBP1,TSBP1-AS1 | c.1195A>G (p.Arg399Gly) c.1198A>G (p.Arg400Gly) c.1174A>G (p.Arg392Gly) c.1201A>G (p.Arg401Gly) c.1153A>G (p.Arg385Gly) c.1186A>G (p.Arg396Gly) c.1255A>G (p.Arg419Gly) c.1234A>G (p.Arg412Gly) c.1231A>G (p.Arg411Gly) c.1213A>G (p.Arg405Gly) c.1177A>G (p.Arg393Gly) c.1156A>G (p.Arg386Gly) c.421+30663T>C (n.421+30663T>C) n.440+30663T>C n.242+38058T>C c.919A>G (p.Arg307Gly) c.1333A>G (p.Arg445Gly) | |
6 | g.32293472T>G | CA449829775 | TSBP1,TSBP1-AS1 | c.1195A>C (p.Arg399=) c.1198A>C (p.Arg400=) c.1174A>C (p.Arg392=) c.1201A>C (p.Arg401=) c.1153A>C (p.Arg385=) c.1186A>C (p.Arg396=) c.1255A>C (p.Arg419=) c.1234A>C (p.Arg412=) c.1231A>C (p.Arg411=) c.1213A>C (p.Arg405=) c.1177A>C (p.Arg393=) c.1156A>C (p.Arg386=) c.421+30663T>G (n.421+30663T>G) n.440+30663T>G n.242+38058T>G c.919A>C (p.Arg307=) c.1333A>C (p.Arg445=) | |
6 | g.32293476_32293478del | CA2678139200 | TSBP1,TSBP1-AS1 | c.1193_1195del (p.Lys398del) c.1196_1198del (p.Lys399del) c.1172_1174del (p.Lys391del) c.1199_1201del (p.Lys400del) c.1151_1153del (p.Lys384del) c.1184_1186del (p.Lys395del) c.1253_1255del (p.Lys418del) c.1232_1234del (p.Lys411del) c.1229_1231del (p.Lys410del) c.1211_1213del (p.Lys404del) c.1175_1177del (p.Lys392del) c.1154_1156del (p.Lys385del) c.421+30667_421+30669del (n.421+30667_421+30669del) n.440+30667_440+30669del n.242+38062_242+38064del c.917_919del (p.Lys306del) c.1331_1333del (p.Lys444del) | gnomAD v4 |
6 | g.32293473C>A | CA363561711 | TSBP1,TSBP1-AS1 | c.1194G>T (p.Lys398Asn) c.1197G>T (p.Lys399Asn) c.1173G>T (p.Lys391Asn) c.1200G>T (p.Lys400Asn) c.1152G>T (p.Lys384Asn) c.1185G>T (p.Lys395Asn) c.1254G>T (p.Lys418Asn) c.1233G>T (p.Lys411Asn) c.1230G>T (p.Lys410Asn) c.1212G>T (p.Lys404Asn) c.1176G>T (p.Lys392Asn) c.1155G>T (p.Lys385Asn) c.421+30664C>A (n.421+30664C>A) n.440+30664C>A n.242+38059C>A c.918G>T (p.Lys306Asn) c.1332G>T (p.Lys444Asn) | |
6 | g.32293473C= | CA1619500840 | TSBP1,TSBP1-AS1 | c.1194G= (p.Lys398=) c.1197G= (p.Lys399=) c.1173G= (p.Lys391=) c.1200G= (p.Lys400=) c.1152G= (p.Lys384=) c.1185G= (p.Lys395=) c.1254G= (p.Lys418=) c.1233G= (p.Lys411=) c.1230G= (p.Lys410=) c.1212G= (p.Lys404=) c.1176G= (p.Lys392=) c.1155G= (p.Lys385=) c.421+30664C= (n.421+30664C=) n.440+30664C= n.242+38059C= c.918G= (p.Lys306=) c.1332G= (p.Lys444=) | |
6 | g.32293473C>G | CA363561712 | TSBP1,TSBP1-AS1 | c.1194G>C (p.Lys398Asn) c.1197G>C (p.Lys399Asn) c.1173G>C (p.Lys391Asn) c.1200G>C (p.Lys400Asn) c.1152G>C (p.Lys384Asn) c.1185G>C (p.Lys395Asn) c.1254G>C (p.Lys418Asn) c.1233G>C (p.Lys411Asn) c.1230G>C (p.Lys410Asn) c.1212G>C (p.Lys404Asn) c.1176G>C (p.Lys392Asn) c.1155G>C (p.Lys385Asn) c.421+30664C>G (n.421+30664C>G) n.440+30664C>G n.242+38059C>G c.918G>C (p.Lys306Asn) c.1332G>C (p.Lys444Asn) | |
6 | g.32293473C>T | CA449829778 | TSBP1,TSBP1-AS1 | c.1194G>A (p.Lys398=) c.1197G>A (p.Lys399=) c.1173G>A (p.Lys391=) c.1200G>A (p.Lys400=) c.1152G>A (p.Lys384=) c.1185G>A (p.Lys395=) c.1254G>A (p.Lys418=) c.1233G>A (p.Lys411=) c.1230G>A (p.Lys410=) c.1212G>A (p.Lys404=) c.1176G>A (p.Lys392=) c.1155G>A (p.Lys385=) c.421+30664C>T (n.421+30664C>T) n.440+30664C>T n.242+38059C>T c.918G>A (p.Lys306=) c.1332G>A (p.Lys444=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.32293474T>A | CA363561713 | TSBP1,TSBP1-AS1 | c.1193A>T (p.Lys398Met) c.1196A>T (p.Lys399Met) c.1172A>T (p.Lys391Met) c.1199A>T (p.Lys400Met) c.1151A>T (p.Lys384Met) c.1184A>T (p.Lys395Met) c.1253A>T (p.Lys418Met) c.1232A>T (p.Lys411Met) c.1229A>T (p.Lys410Met) c.1211A>T (p.Lys404Met) c.1175A>T (p.Lys392Met) c.1154A>T (p.Lys385Met) c.421+30665T>A (n.421+30665T>A) n.440+30665T>A n.242+38060T>A c.917A>T (p.Lys306Met) c.1331A>T (p.Lys444Met) | |
6 | g.32293474T>C | CA3740511 | TSBP1,TSBP1-AS1 | c.1193A>G (p.Lys398Arg) c.1196A>G (p.Lys399Arg) c.1172A>G (p.Lys391Arg) c.1199A>G (p.Lys400Arg) c.1151A>G (p.Lys384Arg) c.1184A>G (p.Lys395Arg) c.1253A>G (p.Lys418Arg) c.1232A>G (p.Lys411Arg) c.1229A>G (p.Lys410Arg) c.1211A>G (p.Lys404Arg) c.1175A>G (p.Lys392Arg) c.1154A>G (p.Lys385Arg) c.421+30665T>C (n.421+30665T>C) n.440+30665T>C n.242+38060T>C c.917A>G (p.Lys306Arg) c.1331A>G (p.Lys444Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.32293474T>G | CA363561714 | TSBP1,TSBP1-AS1 | c.1193A>C (p.Lys398Thr) c.1196A>C (p.Lys399Thr) c.1172A>C (p.Lys391Thr) c.1199A>C (p.Lys400Thr) c.1151A>C (p.Lys384Thr) c.1184A>C (p.Lys395Thr) c.1253A>C (p.Lys418Thr) c.1232A>C (p.Lys411Thr) c.1229A>C (p.Lys410Thr) c.1211A>C (p.Lys404Thr) c.1175A>C (p.Lys392Thr) c.1154A>C (p.Lys385Thr) c.421+30665T>G (n.421+30665T>G) n.440+30665T>G n.242+38060T>G c.917A>C (p.Lys306Thr) c.1331A>C (p.Lys444Thr) | |
6 | g.32293474T= | CA1619500841 | TSBP1,TSBP1-AS1 | c.1193A= (p.Lys398=) c.1196A= (p.Lys399=) c.1172A= (p.Lys391=) c.1199A= (p.Lys400=) c.1151A= (p.Lys384=) c.1184A= (p.Lys395=) c.1253A= (p.Lys418=) c.1232A= (p.Lys411=) c.1229A= (p.Lys410=) c.1211A= (p.Lys404=) c.1175A= (p.Lys392=) c.1154A= (p.Lys385=) c.421+30665T= (n.421+30665T=) n.440+30665T= n.242+38060T= c.917A= (p.Lys306=) c.1331A= (p.Lys444=) | |
6 | g.32293475T>A | CA363561716 | TSBP1,TSBP1-AS1 | c.1192A>T (p.Lys398Ter) c.1195A>T (p.Lys399Ter) c.1171A>T (p.Lys391Ter) c.1198A>T (p.Lys400Ter) c.1150A>T (p.Lys384Ter) c.1183A>T (p.Lys395Ter) c.1252A>T (p.Lys418Ter) c.1231A>T (p.Lys411Ter) c.1228A>T (p.Lys410Ter) c.1210A>T (p.Lys404Ter) c.1174A>T (p.Lys392Ter) c.1153A>T (p.Lys385Ter) c.421+30666T>A (n.421+30666T>A) n.440+30666T>A n.242+38061T>A c.916A>T (p.Lys306Ter) c.1330A>T (p.Lys444Ter) | |
6 | g.32293475T>C | CA363561715 | TSBP1,TSBP1-AS1 | c.1192A>G (p.Lys398Glu) c.1195A>G (p.Lys399Glu) c.1171A>G (p.Lys391Glu) c.1198A>G (p.Lys400Glu) c.1150A>G (p.Lys384Glu) c.1183A>G (p.Lys395Glu) c.1252A>G (p.Lys418Glu) c.1231A>G (p.Lys411Glu) c.1228A>G (p.Lys410Glu) c.1210A>G (p.Lys404Glu) c.1174A>G (p.Lys392Glu) c.1153A>G (p.Lys385Glu) c.421+30666T>C (n.421+30666T>C) n.440+30666T>C n.242+38061T>C c.916A>G (p.Lys306Glu) c.1330A>G (p.Lys444Glu) | COSMIC |
6 | g.32293475T>G | CA3740512 | TSBP1,TSBP1-AS1 | c.1192A>C (p.Lys398Gln) c.1195A>C (p.Lys399Gln) c.1171A>C (p.Lys391Gln) c.1198A>C (p.Lys400Gln) c.1150A>C (p.Lys384Gln) c.1183A>C (p.Lys395Gln) c.1252A>C (p.Lys418Gln) c.1231A>C (p.Lys411Gln) c.1228A>C (p.Lys410Gln) c.1210A>C (p.Lys404Gln) c.1174A>C (p.Lys392Gln) c.1153A>C (p.Lys385Gln) c.421+30666T>G (n.421+30666T>G) n.440+30666T>G n.242+38061T>G c.916A>C (p.Lys306Gln) c.1330A>C (p.Lys444Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.32293475T= | CA1619500842 | TSBP1,TSBP1-AS1 | c.1192A= (p.Lys398=) c.1195A= (p.Lys399=) c.1171A= (p.Lys391=) c.1198A= (p.Lys400=) c.1150A= (p.Lys384=) c.1183A= (p.Lys395=) c.1252A= (p.Lys418=) c.1231A= (p.Lys411=) c.1228A= (p.Lys410=) c.1210A= (p.Lys404=) c.1174A= (p.Lys392=) c.1153A= (p.Lys385=) c.421+30666T= (n.421+30666T=) n.440+30666T= n.242+38061T= c.916A= (p.Lys306=) c.1330A= (p.Lys444=) | |
6 | g.32293476C>A | CA363561717 | TSBP1,TSBP1-AS1 | c.1191G>T (p.Lys397Asn) c.1194G>T (p.Lys398Asn) c.1170G>T (p.Lys390Asn) c.1197G>T (p.Lys399Asn) c.1149G>T (p.Lys383Asn) c.1182G>T (p.Lys394Asn) c.1251G>T (p.Lys417Asn) c.1230G>T (p.Lys410Asn) c.1227G>T (p.Lys409Asn) c.1209G>T (p.Lys403Asn) c.1173G>T (p.Lys391Asn) c.1152G>T (p.Lys384Asn) c.421+30667C>A (n.421+30667C>A) n.440+30667C>A n.242+38062C>A c.915G>T (p.Lys305Asn) c.1329G>T (p.Lys443Asn) | |
6 | g.32293476C= | CA1619500843 | TSBP1,TSBP1-AS1 | c.1191G= (p.Lys397=) c.1194G= (p.Lys398=) c.1170G= (p.Lys390=) c.1197G= (p.Lys399=) c.1149G= (p.Lys383=) c.1182G= (p.Lys394=) c.1251G= (p.Lys417=) c.1230G= (p.Lys410=) c.1227G= (p.Lys409=) c.1209G= (p.Lys403=) c.1173G= (p.Lys391=) c.1152G= (p.Lys384=) c.421+30667C= (n.421+30667C=) n.440+30667C= n.242+38062C= c.915G= (p.Lys305=) c.1329G= (p.Lys443=) | |
6 | g.32293476C>G | CA363561718 | TSBP1,TSBP1-AS1 | c.1191G>C (p.Lys397Asn) c.1194G>C (p.Lys398Asn) c.1170G>C (p.Lys390Asn) c.1197G>C (p.Lys399Asn) c.1149G>C (p.Lys383Asn) c.1182G>C (p.Lys394Asn) c.1251G>C (p.Lys417Asn) c.1230G>C (p.Lys410Asn) c.1227G>C (p.Lys409Asn) c.1209G>C (p.Lys403Asn) c.1173G>C (p.Lys391Asn) c.1152G>C (p.Lys384Asn) c.421+30667C>G (n.421+30667C>G) n.440+30667C>G n.242+38062C>G c.915G>C (p.Lys305Asn) c.1329G>C (p.Lys443Asn) | dbSNP |
6 | g.32293476C>T | CA449829780 | TSBP1,TSBP1-AS1 | c.1191G>A (p.Lys397=) c.1194G>A (p.Lys398=) c.1170G>A (p.Lys390=) c.1197G>A (p.Lys399=) c.1149G>A (p.Lys383=) c.1182G>A (p.Lys394=) c.1251G>A (p.Lys417=) c.1230G>A (p.Lys410=) c.1227G>A (p.Lys409=) c.1209G>A (p.Lys403=) c.1173G>A (p.Lys391=) c.1152G>A (p.Lys384=) c.421+30667C>T (n.421+30667C>T) n.440+30667C>T n.242+38062C>T c.915G>A (p.Lys305=) c.1329G>A (p.Lys443=) | |
6 | g.32293477T>A | CA363561719 | TSBP1,TSBP1-AS1 | c.1190A>T (p.Lys397Met) c.1193A>T (p.Lys398Met) c.1169A>T (p.Lys390Met) c.1196A>T (p.Lys399Met) c.1148A>T (p.Lys383Met) c.1181A>T (p.Lys394Met) c.1250A>T (p.Lys417Met) c.1229A>T (p.Lys410Met) c.1226A>T (p.Lys409Met) c.1208A>T (p.Lys403Met) c.1172A>T (p.Lys391Met) c.1151A>T (p.Lys384Met) c.421+30668T>A (n.421+30668T>A) n.440+30668T>A n.242+38063T>A c.914A>T (p.Lys305Met) c.1328A>T (p.Lys443Met) | |
6 | g.32293477T>C | CA363561720 | TSBP1,TSBP1-AS1 | c.1190A>G (p.Lys397Arg) c.1193A>G (p.Lys398Arg) c.1169A>G (p.Lys390Arg) c.1196A>G (p.Lys399Arg) c.1148A>G (p.Lys383Arg) c.1181A>G (p.Lys394Arg) c.1250A>G (p.Lys417Arg) c.1229A>G (p.Lys410Arg) c.1226A>G (p.Lys409Arg) c.1208A>G (p.Lys403Arg) c.1172A>G (p.Lys391Arg) c.1151A>G (p.Lys384Arg) c.421+30668T>C (n.421+30668T>C) n.440+30668T>C n.242+38063T>C c.914A>G (p.Lys305Arg) c.1328A>G (p.Lys443Arg) | |
6 | g.32293477T>G | CA136929607 | TSBP1,TSBP1-AS1 | c.1190A>C (p.Lys397Thr) c.1193A>C (p.Lys398Thr) c.1169A>C (p.Lys390Thr) c.1196A>C (p.Lys399Thr) c.1148A>C (p.Lys383Thr) c.1181A>C (p.Lys394Thr) c.1250A>C (p.Lys417Thr) c.1229A>C (p.Lys410Thr) c.1226A>C (p.Lys409Thr) c.1208A>C (p.Lys403Thr) c.1172A>C (p.Lys391Thr) c.1151A>C (p.Lys384Thr) c.421+30668T>G (n.421+30668T>G) n.440+30668T>G n.242+38063T>G c.914A>C (p.Lys305Thr) c.1328A>C (p.Lys443Thr) | dbSNP |
6 | g.32293477T= | CA1619500844 | TSBP1,TSBP1-AS1 | c.1190A= (p.Lys397=) c.1193A= (p.Lys398=) c.1169A= (p.Lys390=) c.1196A= (p.Lys399=) c.1148A= (p.Lys383=) c.1181A= (p.Lys394=) c.1250A= (p.Lys417=) c.1229A= (p.Lys410=) c.1226A= (p.Lys409=) c.1208A= (p.Lys403=) c.1172A= (p.Lys391=) c.1151A= (p.Lys384=) c.421+30668T= (n.421+30668T=) n.440+30668T= n.242+38063T= c.914A= (p.Lys305=) c.1328A= (p.Lys443=) | |
6 | g.32293478T>A | CA363561721 | TSBP1,TSBP1-AS1 | c.1189A>T (p.Lys397Ter) c.1192A>T (p.Lys398Ter) c.1168A>T (p.Lys390Ter) c.1195A>T (p.Lys399Ter) c.1147A>T (p.Lys383Ter) c.1180A>T (p.Lys394Ter) c.1249A>T (p.Lys417Ter) c.1228A>T (p.Lys410Ter) c.1225A>T (p.Lys409Ter) c.1207A>T (p.Lys403Ter) c.1171A>T (p.Lys391Ter) c.1150A>T (p.Lys384Ter) c.421+30669T>A (n.421+30669T>A) n.440+30669T>A n.242+38064T>A c.913A>T (p.Lys305Ter) c.1327A>T (p.Lys443Ter) | |
6 | g.32293478T>C | CA363561722 | TSBP1,TSBP1-AS1 | c.1189A>G (p.Lys397Glu) c.1192A>G (p.Lys398Glu) c.1168A>G (p.Lys390Glu) c.1195A>G (p.Lys399Glu) c.1147A>G (p.Lys383Glu) c.1180A>G (p.Lys394Glu) c.1249A>G (p.Lys417Glu) c.1228A>G (p.Lys410Glu) c.1225A>G (p.Lys409Glu) c.1207A>G (p.Lys403Glu) c.1171A>G (p.Lys391Glu) c.1150A>G (p.Lys384Glu) c.421+30669T>C (n.421+30669T>C) n.440+30669T>C n.242+38064T>C c.913A>G (p.Lys305Glu) c.1327A>G (p.Lys443Glu) | dbSNP |
6 | g.32293478T>G | CA363561723 | TSBP1,TSBP1-AS1 | c.1189A>C (p.Lys397Gln) c.1192A>C (p.Lys398Gln) c.1168A>C (p.Lys390Gln) c.1195A>C (p.Lys399Gln) c.1147A>C (p.Lys383Gln) c.1180A>C (p.Lys394Gln) c.1249A>C (p.Lys417Gln) c.1228A>C (p.Lys410Gln) c.1225A>C (p.Lys409Gln) c.1207A>C (p.Lys403Gln) c.1171A>C (p.Lys391Gln) c.1150A>C (p.Lys384Gln) c.421+30669T>G (n.421+30669T>G) n.440+30669T>G n.242+38064T>G c.913A>C (p.Lys305Gln) c.1327A>C (p.Lys443Gln) | |
6 | g.32293478T= | CA1619500845 | TSBP1,TSBP1-AS1 | c.1189A= (p.Lys397=) c.1192A= (p.Lys398=) c.1168A= (p.Lys390=) c.1195A= (p.Lys399=) c.1147A= (p.Lys383=) c.1180A= (p.Lys394=) c.1249A= (p.Lys417=) c.1228A= (p.Lys410=) c.1225A= (p.Lys409=) c.1207A= (p.Lys403=) c.1171A= (p.Lys391=) c.1150A= (p.Lys384=) c.421+30669T= (n.421+30669T=) n.440+30669T= n.242+38064T= c.913A= (p.Lys305=) c.1327A= (p.Lys443=) | |
6 | g.32293479T>A | CA449829781 | TSBP1,TSBP1-AS1 | c.1188A>T (p.Val396=) c.1191A>T (p.Val397=) c.1167A>T (p.Val389=) c.1194A>T (p.Val398=) c.1146A>T (p.Val382=) c.1179A>T (p.Val393=) c.1248A>T (p.Val416=) c.1227A>T (p.Val409=) c.1224A>T (p.Val408=) c.1206A>T (p.Val402=) c.1170A>T (p.Val390=) c.1149A>T (p.Val383=) c.421+30670T>A (n.421+30670T>A) n.440+30670T>A n.242+38065T>A c.912A>T (p.Val304=) c.1326A>T (p.Val442=) | |
6 | g.32293479T>C | CA3740513 | TSBP1,TSBP1-AS1 | c.1188A>G (p.Val396=) c.1191A>G (p.Val397=) c.1167A>G (p.Val389=) c.1194A>G (p.Val398=) c.1146A>G (p.Val382=) c.1179A>G (p.Val393=) c.1248A>G (p.Val416=) c.1227A>G (p.Val409=) c.1224A>G (p.Val408=) c.1206A>G (p.Val402=) c.1170A>G (p.Val390=) c.1149A>G (p.Val383=) c.421+30670T>C (n.421+30670T>C) n.440+30670T>C n.242+38065T>C c.912A>G (p.Val304=) c.1326A>G (p.Val442=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.32293479T>G | CA449829784 | TSBP1,TSBP1-AS1 | c.1188A>C (p.Val396=) c.1191A>C (p.Val397=) c.1167A>C (p.Val389=) c.1194A>C (p.Val398=) c.1146A>C (p.Val382=) c.1179A>C (p.Val393=) c.1248A>C (p.Val416=) c.1227A>C (p.Val409=) c.1224A>C (p.Val408=) c.1206A>C (p.Val402=) c.1170A>C (p.Val390=) c.1149A>C (p.Val383=) c.421+30670T>G (n.421+30670T>G) n.440+30670T>G n.242+38065T>G c.912A>C (p.Val304=) c.1326A>C (p.Val442=) | |
6 | g.32293479T= | CA1619500846 | TSBP1,TSBP1-AS1 | c.1188A= (p.Val396=) c.1191A= (p.Val397=) c.1167A= (p.Val389=) c.1194A= (p.Val398=) c.1146A= (p.Val382=) c.1179A= (p.Val393=) c.1248A= (p.Val416=) c.1227A= (p.Val409=) c.1224A= (p.Val408=) c.1206A= (p.Val402=) c.1170A= (p.Val390=) c.1149A= (p.Val383=) c.421+30670T= (n.421+30670T=) n.440+30670T= n.242+38065T= c.912A= (p.Val304=) c.1326A= (p.Val442=) | |
6 | g.32293480A>C | CA363561724 | TSBP1,TSBP1-AS1 | c.1187T>G (p.Val396Gly) c.1190T>G (p.Val397Gly) c.1166T>G (p.Val389Gly) c.1193T>G (p.Val398Gly) c.1145T>G (p.Val382Gly) c.1178T>G (p.Val393Gly) c.1247T>G (p.Val416Gly) c.1226T>G (p.Val409Gly) c.1223T>G (p.Val408Gly) c.1205T>G (p.Val402Gly) c.1169T>G (p.Val390Gly) c.1148T>G (p.Val383Gly) c.421+30671A>C (n.421+30671A>C) n.440+30671A>C n.242+38066A>C c.911T>G (p.Val304Gly) c.1325T>G (p.Val442Gly) | |
6 | g.32293480A>G | CA363561725 | TSBP1,TSBP1-AS1 | c.1187T>C (p.Val396Ala) c.1190T>C (p.Val397Ala) c.1166T>C (p.Val389Ala) c.1193T>C (p.Val398Ala) c.1145T>C (p.Val382Ala) c.1178T>C (p.Val393Ala) c.1247T>C (p.Val416Ala) c.1226T>C (p.Val409Ala) c.1223T>C (p.Val408Ala) c.1205T>C (p.Val402Ala) c.1169T>C (p.Val390Ala) c.1148T>C (p.Val383Ala) c.421+30671A>G (n.421+30671A>G) n.440+30671A>G n.242+38066A>G c.911T>C (p.Val304Ala) c.1325T>C (p.Val442Ala) | |
6 | g.32293480A>T | CA363561726 | TSBP1,TSBP1-AS1 | c.1187T>A (p.Val396Glu) c.1190T>A (p.Val397Glu) c.1166T>A (p.Val389Glu) c.1193T>A (p.Val398Glu) c.1145T>A (p.Val382Glu) c.1178T>A (p.Val393Glu) c.1247T>A (p.Val416Glu) c.1226T>A (p.Val409Glu) c.1223T>A (p.Val408Glu) c.1205T>A (p.Val402Glu) c.1169T>A (p.Val390Glu) c.1148T>A (p.Val383Glu) c.421+30671A>T (n.421+30671A>T) n.440+30671A>T n.242+38066A>T c.911T>A (p.Val304Glu) c.1325T>A (p.Val442Glu) | gnomAD v3 gnomAD v4 |
6 | g.32293481C>A | CA363561728 | TSBP1,TSBP1-AS1 | c.1186G>T (p.Val396Leu) c.1189G>T (p.Val397Leu) c.1165G>T (p.Val389Leu) c.1192G>T (p.Val398Leu) c.1144G>T (p.Val382Leu) c.1177G>T (p.Val393Leu) c.1246G>T (p.Val416Leu) c.1225G>T (p.Val409Leu) c.1222G>T (p.Val408Leu) c.1204G>T (p.Val402Leu) c.1168G>T (p.Val390Leu) c.1147G>T (p.Val383Leu) c.421+30672C>A (n.421+30672C>A) n.440+30672C>A n.242+38067C>A c.910G>T (p.Val304Leu) c.1324G>T (p.Val442Leu) | |
6 | g.32293481C>G | CA363561729 | TSBP1,TSBP1-AS1 | c.1186G>C (p.Val396Leu) c.1189G>C (p.Val397Leu) c.1165G>C (p.Val389Leu) c.1192G>C (p.Val398Leu) c.1144G>C (p.Val382Leu) c.1177G>C (p.Val393Leu) c.1246G>C (p.Val416Leu) c.1225G>C (p.Val409Leu) c.1222G>C (p.Val408Leu) c.1204G>C (p.Val402Leu) c.1168G>C (p.Val390Leu) c.1147G>C (p.Val383Leu) c.421+30672C>G (n.421+30672C>G) n.440+30672C>G n.242+38067C>G c.910G>C (p.Val304Leu) c.1324G>C (p.Val442Leu) | |
6 | g.32293481C>T | CA363561727 | TSBP1,TSBP1-AS1 | c.1186G>A (p.Val396Ile) c.1189G>A (p.Val397Ile) c.1165G>A (p.Val389Ile) c.1192G>A (p.Val398Ile) c.1144G>A (p.Val382Ile) c.1177G>A (p.Val393Ile) c.1246G>A (p.Val416Ile) c.1225G>A (p.Val409Ile) c.1222G>A (p.Val408Ile) c.1204G>A (p.Val402Ile) c.1168G>A (p.Val390Ile) c.1147G>A (p.Val383Ile) c.421+30672C>T (n.421+30672C>T) n.440+30672C>T n.242+38067C>T c.910G>A (p.Val304Ile) c.1324G>A (p.Val442Ile) | gnomAD v4 |
6 | g.32293482C>A | CA363561731 | TSBP1,TSBP1-AS1 | c.1185G>T (p.Gln395His) c.1188G>T (p.Gln396His) c.1164G>T (p.Gln388His) c.1191G>T (p.Gln397His) c.1143G>T (p.Gln381His) c.1176G>T (p.Gln392His) c.1245G>T (p.Gln415His) c.1224G>T (p.Gln408His) c.1221G>T (p.Gln407His) c.1203G>T (p.Gln401His) c.1167G>T (p.Gln389His) c.1146G>T (p.Gln382His) c.421+30673C>A (n.421+30673C>A) n.440+30673C>A n.242+38068C>A c.909G>T (p.Gln303His) c.1323G>T (p.Gln441His) | |
6 | g.32293482C>G | CA363561730 | TSBP1,TSBP1-AS1 | c.1185G>C (p.Gln395His) c.1188G>C (p.Gln396His) c.1164G>C (p.Gln388His) c.1191G>C (p.Gln397His) c.1143G>C (p.Gln381His) c.1176G>C (p.Gln392His) c.1245G>C (p.Gln415His) c.1224G>C (p.Gln408His) c.1221G>C (p.Gln407His) c.1203G>C (p.Gln401His) c.1167G>C (p.Gln389His) c.1146G>C (p.Gln382His) c.421+30673C>G (n.421+30673C>G) n.440+30673C>G n.242+38068C>G c.909G>C (p.Gln303His) c.1323G>C (p.Gln441His) | |
6 | g.32293482C>T | CA449829788 | TSBP1,TSBP1-AS1 | c.1185G>A (p.Gln395=) c.1188G>A (p.Gln396=) c.1164G>A (p.Gln388=) c.1191G>A (p.Gln397=) c.1143G>A (p.Gln381=) c.1176G>A (p.Gln392=) c.1245G>A (p.Gln415=) c.1224G>A (p.Gln408=) c.1221G>A (p.Gln407=) c.1203G>A (p.Gln401=) c.1167G>A (p.Gln389=) c.1146G>A (p.Gln382=) c.421+30673C>T (n.421+30673C>T) n.440+30673C>T n.242+38068C>T c.909G>A (p.Gln303=) c.1323G>A (p.Gln441=) | |
6 | g.32293483T>A | CA363561734 | TSBP1,TSBP1-AS1 | c.1184A>T (p.Gln395Leu) c.1187A>T (p.Gln396Leu) c.1163A>T (p.Gln388Leu) c.1190A>T (p.Gln397Leu) c.1142A>T (p.Gln381Leu) c.1175A>T (p.Gln392Leu) c.1244A>T (p.Gln415Leu) c.1223A>T (p.Gln408Leu) c.1220A>T (p.Gln407Leu) c.1202A>T (p.Gln401Leu) c.1166A>T (p.Gln389Leu) c.1145A>T (p.Gln382Leu) c.421+30674T>A (n.421+30674T>A) n.440+30674T>A n.242+38069T>A c.908A>T (p.Gln303Leu) c.1322A>T (p.Gln441Leu) | COSMIC |
6 | g.32293483T>C | CA363561732 | TSBP1,TSBP1-AS1 | c.1184A>G (p.Gln395Arg) c.1187A>G (p.Gln396Arg) c.1163A>G (p.Gln388Arg) c.1190A>G (p.Gln397Arg) c.1142A>G (p.Gln381Arg) c.1175A>G (p.Gln392Arg) c.1244A>G (p.Gln415Arg) c.1223A>G (p.Gln408Arg) c.1220A>G (p.Gln407Arg) c.1202A>G (p.Gln401Arg) c.1166A>G (p.Gln389Arg) c.1145A>G (p.Gln382Arg) c.421+30674T>C (n.421+30674T>C) n.440+30674T>C n.242+38069T>C c.908A>G (p.Gln303Arg) c.1322A>G (p.Gln441Arg) | |
6 | g.32293483T>G | CA363561733 | TSBP1,TSBP1-AS1 | c.1184A>C (p.Gln395Pro) c.1187A>C (p.Gln396Pro) c.1163A>C (p.Gln388Pro) c.1190A>C (p.Gln397Pro) c.1142A>C (p.Gln381Pro) c.1175A>C (p.Gln392Pro) c.1244A>C (p.Gln415Pro) c.1223A>C (p.Gln408Pro) c.1220A>C (p.Gln407Pro) c.1202A>C (p.Gln401Pro) c.1166A>C (p.Gln389Pro) c.1145A>C (p.Gln382Pro) c.421+30674T>G (n.421+30674T>G) n.440+30674T>G n.242+38069T>G c.908A>C (p.Gln303Pro) c.1322A>C (p.Gln441Pro) | |
6 | g.32293484G>A | CA363561735 | TSBP1,TSBP1-AS1 | c.1183C>T (p.Gln395Ter) c.1186C>T (p.Gln396Ter) c.1162C>T (p.Gln388Ter) c.1189C>T (p.Gln397Ter) c.1141C>T (p.Gln381Ter) c.1174C>T (p.Gln392Ter) c.1243C>T (p.Gln415Ter) c.1222C>T (p.Gln408Ter) c.1219C>T (p.Gln407Ter) c.1201C>T (p.Gln401Ter) c.1165C>T (p.Gln389Ter) c.1144C>T (p.Gln382Ter) c.421+30675G>A (n.421+30675G>A) n.440+30675G>A n.242+38070G>A c.907C>T (p.Gln303Ter) c.1321C>T (p.Gln441Ter) | |
6 | g.32293484G>C | CA363561736 | TSBP1,TSBP1-AS1 | c.1183C>G (p.Gln395Glu) c.1186C>G (p.Gln396Glu) c.1162C>G (p.Gln388Glu) c.1189C>G (p.Gln397Glu) c.1141C>G (p.Gln381Glu) c.1174C>G (p.Gln392Glu) c.1243C>G (p.Gln415Glu) c.1222C>G (p.Gln408Glu) c.1219C>G (p.Gln407Glu) c.1201C>G (p.Gln401Glu) c.1165C>G (p.Gln389Glu) c.1144C>G (p.Gln382Glu) c.421+30675G>C (n.421+30675G>C) n.440+30675G>C n.242+38070G>C c.907C>G (p.Gln303Glu) c.1321C>G (p.Gln441Glu) | |
6 | g.32293484G>T | CA363561737 | TSBP1,TSBP1-AS1 | c.1183C>A (p.Gln395Lys) c.1186C>A (p.Gln396Lys) c.1162C>A (p.Gln388Lys) c.1189C>A (p.Gln397Lys) c.1141C>A (p.Gln381Lys) c.1174C>A (p.Gln392Lys) c.1243C>A (p.Gln415Lys) c.1222C>A (p.Gln408Lys) c.1219C>A (p.Gln407Lys) c.1201C>A (p.Gln401Lys) c.1165C>A (p.Gln389Lys) c.1144C>A (p.Gln382Lys) c.421+30675G>T (n.421+30675G>T) n.440+30675G>T n.242+38070G>T c.907C>A (p.Gln303Lys) c.1321C>A (p.Gln441Lys) | |
6 | g.32293485G>A | CA449829794 | TSBP1,TSBP1-AS1 | c.1182C>T (p.Ala394=) c.1185C>T (p.Ala395=) c.1161C>T (p.Ala387=) c.1188C>T (p.Ala396=) c.1140C>T (p.Ala380=) c.1173C>T (p.Ala391=) c.1242C>T (p.Ala414=) c.1221C>T (p.Ala407=) c.1218C>T (p.Ala406=) c.1200C>T (p.Ala400=) c.1164C>T (p.Ala388=) c.1143C>T (p.Ala381=) c.421+30676G>A (n.421+30676G>A) n.440+30676G>A n.242+38071G>A c.906C>T (p.Ala302=) c.1320C>T (p.Ala440=) | |
6 | g.32293485G>C | CA449829790 | TSBP1,TSBP1-AS1 | c.1182C>G (p.Ala394=) c.1185C>G (p.Ala395=) c.1161C>G (p.Ala387=) c.1188C>G (p.Ala396=) c.1140C>G (p.Ala380=) c.1173C>G (p.Ala391=) c.1242C>G (p.Ala414=) c.1221C>G (p.Ala407=) c.1218C>G (p.Ala406=) c.1200C>G (p.Ala400=) c.1164C>G (p.Ala388=) c.1143C>G (p.Ala381=) c.421+30676G>C (n.421+30676G>C) n.440+30676G>C n.242+38071G>C c.906C>G (p.Ala302=) c.1320C>G (p.Ala440=) | |
6 | g.32293485G>T | CA449829792 | TSBP1,TSBP1-AS1 | c.1182C>A (p.Ala394=) c.1185C>A (p.Ala395=) c.1161C>A (p.Ala387=) c.1188C>A (p.Ala396=) c.1140C>A (p.Ala380=) c.1173C>A (p.Ala391=) c.1242C>A (p.Ala414=) c.1221C>A (p.Ala407=) c.1218C>A (p.Ala406=) c.1200C>A (p.Ala400=) c.1164C>A (p.Ala388=) c.1143C>A (p.Ala381=) c.421+30676G>T (n.421+30676G>T) n.440+30676G>T n.242+38071G>T c.906C>A (p.Ala302=) c.1320C>A (p.Ala440=) | |
6 | g.32293486G>A | CA363561738 | TSBP1,TSBP1-AS1 | c.1181C>T (p.Ala394Val) c.1184C>T (p.Ala395Val) c.1160C>T (p.Ala387Val) c.1187C>T (p.Ala396Val) c.1139C>T (p.Ala380Val) c.1172C>T (p.Ala391Val) c.1241C>T (p.Ala414Val) c.1220C>T (p.Ala407Val) c.1217C>T (p.Ala406Val) c.1199C>T (p.Ala400Val) c.1163C>T (p.Ala388Val) c.1142C>T (p.Ala381Val) c.421+30677G>A (n.421+30677G>A) n.440+30677G>A n.242+38072G>A c.905C>T (p.Ala302Val) c.1319C>T (p.Ala440Val) | gnomAD v4 |
6 | g.32293486G>C | CA363561739 | TSBP1,TSBP1-AS1 | c.1181C>G (p.Ala394Gly) c.1184C>G (p.Ala395Gly) c.1160C>G (p.Ala387Gly) c.1187C>G (p.Ala396Gly) c.1139C>G (p.Ala380Gly) c.1172C>G (p.Ala391Gly) c.1241C>G (p.Ala414Gly) c.1220C>G (p.Ala407Gly) c.1217C>G (p.Ala406Gly) c.1199C>G (p.Ala400Gly) c.1163C>G (p.Ala388Gly) c.1142C>G (p.Ala381Gly) c.421+30677G>C (n.421+30677G>C) n.440+30677G>C n.242+38072G>C c.905C>G (p.Ala302Gly) c.1319C>G (p.Ala440Gly) | |
6 | g.32293486G>T | CA363561740 | TSBP1,TSBP1-AS1 | c.1181C>A (p.Ala394Asp) c.1184C>A (p.Ala395Asp) c.1160C>A (p.Ala387Asp) c.1187C>A (p.Ala396Asp) c.1139C>A (p.Ala380Asp) c.1172C>A (p.Ala391Asp) c.1241C>A (p.Ala414Asp) c.1220C>A (p.Ala407Asp) c.1217C>A (p.Ala406Asp) c.1199C>A (p.Ala400Asp) c.1163C>A (p.Ala388Asp) c.1142C>A (p.Ala381Asp) c.421+30677G>T (n.421+30677G>T) n.440+30677G>T n.242+38072G>T c.905C>A (p.Ala302Asp) c.1319C>A (p.Ala440Asp) | |
6 | g.32293487C>A | CA363561741 | TSBP1,TSBP1-AS1 | c.1180G>T (p.Ala394Ser) c.1183G>T (p.Ala395Ser) c.1159G>T (p.Ala387Ser) c.1186G>T (p.Ala396Ser) c.1138G>T (p.Ala380Ser) c.1171G>T (p.Ala391Ser) c.1240G>T (p.Ala414Ser) c.1219G>T (p.Ala407Ser) c.1216G>T (p.Ala406Ser) c.1198G>T (p.Ala400Ser) c.1162G>T (p.Ala388Ser) c.1141G>T (p.Ala381Ser) c.421+30678C>A (n.421+30678C>A) n.440+30678C>A n.242+38073C>A c.904G>T (p.Ala302Ser) c.1318G>T (p.Ala440Ser) | |
6 | g.32293487C>G | CA363561742 | TSBP1,TSBP1-AS1 | c.1180G>C (p.Ala394Pro) c.1183G>C (p.Ala395Pro) c.1159G>C (p.Ala387Pro) c.1186G>C (p.Ala396Pro) c.1138G>C (p.Ala380Pro) c.1171G>C (p.Ala391Pro) c.1240G>C (p.Ala414Pro) c.1219G>C (p.Ala407Pro) c.1216G>C (p.Ala406Pro) c.1198G>C (p.Ala400Pro) c.1162G>C (p.Ala388Pro) c.1141G>C (p.Ala381Pro) c.421+30678C>G (n.421+30678C>G) n.440+30678C>G n.242+38073C>G c.904G>C (p.Ala302Pro) c.1318G>C (p.Ala440Pro) | |
6 | g.32293487C>T | CA363561743 | TSBP1,TSBP1-AS1 | c.1180G>A (p.Ala394Thr) c.1183G>A (p.Ala395Thr) c.1159G>A (p.Ala387Thr) c.1186G>A (p.Ala396Thr) c.1138G>A (p.Ala380Thr) c.1171G>A (p.Ala391Thr) c.1240G>A (p.Ala414Thr) c.1219G>A (p.Ala407Thr) c.1216G>A (p.Ala406Thr) c.1198G>A (p.Ala400Thr) c.1162G>A (p.Ala388Thr) c.1141G>A (p.Ala381Thr) c.421+30678C>T (n.421+30678C>T) n.440+30678C>T n.242+38073C>T c.904G>A (p.Ala302Thr) c.1318G>A (p.Ala440Thr) | |
6 | g.32293487_32293488delinsCT | CA1619500847 | TSBP1,TSBP1-AS1 | c.1179_1180delinsAG (p.Glu393=) c.1182_1183delinsAG (p.Glu394=) c.1158_1159delinsAG (p.Glu386=) c.1185_1186delinsAG (p.Glu395=) c.1137_1138delinsAG (p.Glu379=) c.1170_1171delinsAG (p.Glu390=) c.1239_1240delinsAG (p.Glu413=) c.1218_1219delinsAG (p.Glu406=) c.1215_1216delinsAG (p.Glu405=) c.1197_1198delinsAG (p.Glu399=) c.1161_1162delinsAG (p.Glu387=) c.1140_1141delinsAG (p.Glu380=) c.421+30678_421+30679delinsCT (n.421+30678_421+30679delinsCT) n.440+30678_440+30679delinsCT n.242+38073_242+38074delinsCT c.903_904delinsAG (p.Glu301=) c.1317_1318delinsAG (p.Glu439=) |