Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.135769953T>A | CA375505837 | KCNT1 | c.1517T>A (p.Val506Glu) c.1358T>A (p.Val453Glu) c.1265T>A (p.Val422Glu) c.1274T>A (p.Val425Glu) c.1418T>A (p.Val473Glu) c.*1127T>A (n.*1127T>A) c.1400T>A (p.Val467Glu) c.1460T>A (p.Val487Glu) n.1336T>A c.1382T>A (p.Val461Glu) c.1652T>A (p.Val551Glu) c.1661T>A (p.Val554Glu) c.1007T>A (p.Val336Glu) c.1451T>A (p.Val484Glu) | gnomAD v4 |
9 | g.135769953T>C | CA375505836 | KCNT1 | c.1517T>C (p.Val506Ala) c.1358T>C (p.Val453Ala) c.1265T>C (p.Val422Ala) c.1274T>C (p.Val425Ala) c.1418T>C (p.Val473Ala) c.*1127T>C (n.*1127T>C) c.1400T>C (p.Val467Ala) c.1460T>C (p.Val487Ala) n.1336T>C c.1382T>C (p.Val461Ala) c.1652T>C (p.Val551Ala) c.1661T>C (p.Val554Ala) c.1007T>C (p.Val336Ala) c.1451T>C (p.Val484Ala) | gnomAD v4 |
9 | g.135769953T>G | CA375505835 | KCNT1 | c.1517T>G (p.Val506Gly) c.1358T>G (p.Val453Gly) c.1265T>G (p.Val422Gly) c.1274T>G (p.Val425Gly) c.1418T>G (p.Val473Gly) c.*1127T>G (n.*1127T>G) c.1400T>G (p.Val467Gly) c.1460T>G (p.Val487Gly) n.1336T>G c.1382T>G (p.Val461Gly) c.1652T>G (p.Val551Gly) c.1661T>G (p.Val554Gly) c.1007T>G (p.Val336Gly) c.1451T>G (p.Val484Gly) | |
9 | g.135769954G>A | CA5326958 | KCNT1 | c.1518G>A (p.Val506=) c.1359G>A (p.Val453=) c.1266G>A (p.Val422=) c.1275G>A (p.Val425=) c.1419G>A (p.Val473=) c.*1128G>A (n.*1128G>A) c.1401G>A (p.Val467=) c.1461G>A (p.Val487=) n.1337G>A c.1383G>A (p.Val461=) c.1653G>A (p.Val551=) c.1662G>A (p.Val554=) c.1008G>A (p.Val336=) c.1452G>A (p.Val484=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135769954G>C | CA467698377 | KCNT1 | c.1518G>C (p.Val506=) c.1359G>C (p.Val453=) c.1266G>C (p.Val422=) c.1275G>C (p.Val425=) c.1419G>C (p.Val473=) c.*1128G>C (n.*1128G>C) c.1401G>C (p.Val467=) c.1461G>C (p.Val487=) n.1337G>C c.1383G>C (p.Val461=) c.1653G>C (p.Val551=) c.1662G>C (p.Val554=) c.1008G>C (p.Val336=) c.1452G>C (p.Val484=) | |
9 | g.135769954G= | CA1883872394 | KCNT1 | c.1518G= (p.Val506=) c.1359G= (p.Val453=) c.1266G= (p.Val422=) c.1275G= (p.Val425=) c.1419G= (p.Val473=) c.*1128G= (n.*1128G=) c.1401G= (p.Val467=) c.1461G= (p.Val487=) n.1337G= c.1383G= (p.Val461=) c.1653G= (p.Val551=) c.1662G= (p.Val554=) c.1008G= (p.Val336=) c.1452G= (p.Val484=) | |
9 | g.135769954G>T | CA467698378 | KCNT1 | c.1518G>T (p.Val506=) c.1359G>T (p.Val453=) c.1266G>T (p.Val422=) c.1275G>T (p.Val425=) c.1419G>T (p.Val473=) c.*1128G>T (n.*1128G>T) c.1401G>T (p.Val467=) c.1461G>T (p.Val487=) n.1337G>T c.1383G>T (p.Val461=) c.1653G>T (p.Val551=) c.1662G>T (p.Val554=) c.1008G>T (p.Val336=) c.1452G>T (p.Val484=) | gnomAD v4 |
9 | g.135769955del | CA2579510911 | KCNT1 | c.1519del (p.Val507CysfsTer13) c.1360del (p.Val454CysfsTer13) c.1267del (p.Val423CysfsTer13) c.1276del (p.Val426CysfsTer13) c.1420del (p.Val474CysfsTer13) c.*1129del (n.*1129del) c.1402del (p.Val468CysfsTer13) c.1462del (p.Val488CysfsTer13) n.1338del c.1384del (p.Val462CysfsTer13) c.1654del (p.Val552CysfsTer13) c.1663del (p.Val555CysfsTer13) c.1009del (p.Val337CysfsTer13) c.1453del (p.Val485CysfsTer13) | |
9 | g.135769955G>A | CA375505838 | KCNT1 | c.1519G>A (p.Val507Met) c.1360G>A (p.Val454Met) c.1267G>A (p.Val423Met) c.1276G>A (p.Val426Met) c.1420G>A (p.Val474Met) c.*1129G>A (n.*1129G>A) c.1402G>A (p.Val468Met) c.1462G>A (p.Val488Met) n.1338G>A c.1384G>A (p.Val462Met) c.1654G>A (p.Val552Met) c.1663G>A (p.Val555Met) c.1009G>A (p.Val337Met) c.1453G>A (p.Val485Met) | |
9 | g.135769955G>C | CA375505839 | KCNT1 | c.1519G>C (p.Val507Leu) c.1360G>C (p.Val454Leu) c.1267G>C (p.Val423Leu) c.1276G>C (p.Val426Leu) c.1420G>C (p.Val474Leu) c.*1129G>C (n.*1129G>C) c.1402G>C (p.Val468Leu) c.1462G>C (p.Val488Leu) n.1338G>C c.1384G>C (p.Val462Leu) c.1654G>C (p.Val552Leu) c.1663G>C (p.Val555Leu) c.1009G>C (p.Val337Leu) c.1453G>C (p.Val485Leu) | gnomAD v4 |
9 | g.135769955G>T | CA375505840 | KCNT1 | c.1519G>T (p.Val507Leu) c.1360G>T (p.Val454Leu) c.1267G>T (p.Val423Leu) c.1276G>T (p.Val426Leu) c.1420G>T (p.Val474Leu) c.*1129G>T (n.*1129G>T) c.1402G>T (p.Val468Leu) c.1462G>T (p.Val488Leu) n.1338G>T c.1384G>T (p.Val462Leu) c.1654G>T (p.Val552Leu) c.1663G>T (p.Val555Leu) c.1009G>T (p.Val337Leu) c.1453G>T (p.Val485Leu) | gnomAD v4 COSMIC COSMIC |
9 | g.135769956T>A | CA375505841 | KCNT1 | c.1520T>A (p.Val507Glu) c.1361T>A (p.Val454Glu) c.1268T>A (p.Val423Glu) c.1277T>A (p.Val426Glu) c.1421T>A (p.Val474Glu) c.*1130T>A (n.*1130T>A) c.1403T>A (p.Val468Glu) c.1463T>A (p.Val488Glu) n.1339T>A c.1385T>A (p.Val462Glu) c.1655T>A (p.Val552Glu) c.1664T>A (p.Val555Glu) c.1010T>A (p.Val337Glu) c.1454T>A (p.Val485Glu) | |
9 | g.135769956T>C | CA375505842 | KCNT1 | c.1520T>C (p.Val507Ala) c.1361T>C (p.Val454Ala) c.1268T>C (p.Val423Ala) c.1277T>C (p.Val426Ala) c.1421T>C (p.Val474Ala) c.*1130T>C (n.*1130T>C) c.1403T>C (p.Val468Ala) c.1463T>C (p.Val488Ala) n.1339T>C c.1385T>C (p.Val462Ala) c.1655T>C (p.Val552Ala) c.1664T>C (p.Val555Ala) c.1010T>C (p.Val337Ala) c.1454T>C (p.Val485Ala) | |
9 | g.135769956T>G | CA375505843 | KCNT1 | c.1520T>G (p.Val507Gly) c.1361T>G (p.Val454Gly) c.1268T>G (p.Val423Gly) c.1277T>G (p.Val426Gly) c.1421T>G (p.Val474Gly) c.*1130T>G (n.*1130T>G) c.1403T>G (p.Val468Gly) c.1463T>G (p.Val488Gly) n.1339T>G c.1385T>G (p.Val462Gly) c.1655T>G (p.Val552Gly) c.1664T>G (p.Val555Gly) c.1010T>G (p.Val337Gly) c.1454T>G (p.Val485Gly) | |
9 | g.135769957del | CA2786247841 | KCNT1 | c.1521del (p.Cys508ValfsTer12) c.1362del (p.Cys455ValfsTer12) c.1269del (p.Cys424ValfsTer12) c.1278del (p.Cys427ValfsTer12) c.1422del (p.Cys475ValfsTer12) c.*1131del (n.*1131del) c.1404del (p.Cys469ValfsTer12) c.1464del (p.Cys489ValfsTer12) n.1340del c.1386del (p.Cys463ValfsTer12) c.1656del (p.Cys553ValfsTer12) c.1665del (p.Cys556ValfsTer12) c.1011del (p.Cys338ValfsTer12) c.1455del (p.Cys486ValfsTer12) | |
9 | g.135769957G>A | CA5326959 | KCNT1 | c.1521G>A (p.Val507=) c.1362G>A (p.Val454=) c.1269G>A (p.Val423=) c.1278G>A (p.Val426=) c.1422G>A (p.Val474=) c.*1131G>A (n.*1131G>A) c.1404G>A (p.Val468=) c.1464G>A (p.Val488=) n.1340G>A c.1386G>A (p.Val462=) c.1656G>A (p.Val552=) c.1665G>A (p.Val555=) c.1011G>A (p.Val337=) c.1455G>A (p.Val485=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135769957G>C | CA467698379 | KCNT1 | c.1521G>C (p.Val507=) c.1362G>C (p.Val454=) c.1269G>C (p.Val423=) c.1278G>C (p.Val426=) c.1422G>C (p.Val474=) c.*1131G>C (n.*1131G>C) c.1404G>C (p.Val468=) c.1464G>C (p.Val488=) n.1340G>C c.1386G>C (p.Val462=) c.1656G>C (p.Val552=) c.1665G>C (p.Val555=) c.1011G>C (p.Val337=) c.1455G>C (p.Val485=) | |
9 | g.135769957G= | CA1883872398 | KCNT1 | c.1521G= (p.Val507=) c.1362G= (p.Val454=) c.1269G= (p.Val423=) c.1278G= (p.Val426=) c.1422G= (p.Val474=) c.*1131G= (n.*1131G=) c.1404G= (p.Val468=) c.1464G= (p.Val488=) n.1340G= c.1386G= (p.Val462=) c.1656G= (p.Val552=) c.1665G= (p.Val555=) c.1011G= (p.Val337=) c.1455G= (p.Val485=) | |
9 | g.135769957G>T | CA467698380 | KCNT1 | c.1521G>T (p.Val507=) c.1362G>T (p.Val454=) c.1269G>T (p.Val423=) c.1278G>T (p.Val426=) c.1422G>T (p.Val474=) c.*1131G>T (n.*1131G>T) c.1404G>T (p.Val468=) c.1464G>T (p.Val488=) n.1340G>T c.1386G>T (p.Val462=) c.1656G>T (p.Val552=) c.1665G>T (p.Val555=) c.1011G>T (p.Val337=) c.1455G>T (p.Val485=) | gnomAD v4 |
9 | g.135769958T>A | CA375505844 | KCNT1 | c.1522T>A (p.Cys508Ser) c.1363T>A (p.Cys455Ser) c.1270T>A (p.Cys424Ser) c.1279T>A (p.Cys427Ser) c.1423T>A (p.Cys475Ser) c.*1132T>A (n.*1132T>A) c.1405T>A (p.Cys469Ser) c.1465T>A (p.Cys489Ser) n.1341T>A c.1387T>A (p.Cys463Ser) c.1657T>A (p.Cys553Ser) c.1666T>A (p.Cys556Ser) c.1012T>A (p.Cys338Ser) c.1456T>A (p.Cys486Ser) | |
9 | g.135769958T>C | CA375505845 | KCNT1 | c.1522T>C (p.Cys508Arg) c.1363T>C (p.Cys455Arg) c.1270T>C (p.Cys424Arg) c.1279T>C (p.Cys427Arg) c.1423T>C (p.Cys475Arg) c.*1132T>C (n.*1132T>C) c.1405T>C (p.Cys469Arg) c.1465T>C (p.Cys489Arg) n.1341T>C c.1387T>C (p.Cys463Arg) c.1657T>C (p.Cys553Arg) c.1666T>C (p.Cys556Arg) c.1012T>C (p.Cys338Arg) c.1456T>C (p.Cys486Arg) | gnomAD v4 |
9 | g.135769958T>G | CA375505846 | KCNT1 | c.1522T>G (p.Cys508Gly) c.1363T>G (p.Cys455Gly) c.1270T>G (p.Cys424Gly) c.1279T>G (p.Cys427Gly) c.1423T>G (p.Cys475Gly) c.*1132T>G (n.*1132T>G) c.1405T>G (p.Cys469Gly) c.1465T>G (p.Cys489Gly) n.1341T>G c.1387T>G (p.Cys463Gly) c.1657T>G (p.Cys553Gly) c.1666T>G (p.Cys556Gly) c.1012T>G (p.Cys338Gly) c.1456T>G (p.Cys486Gly) | |
9 | g.135769959G>A | CA375505848 | KCNT1 | c.1523G>A (p.Cys508Tyr) c.1364G>A (p.Cys455Tyr) c.1271G>A (p.Cys424Tyr) c.1280G>A (p.Cys427Tyr) c.1424G>A (p.Cys475Tyr) c.*1133G>A (n.*1133G>A) c.1406G>A (p.Cys469Tyr) c.1466G>A (p.Cys489Tyr) n.1342G>A c.1388G>A (p.Cys463Tyr) c.1658G>A (p.Cys553Tyr) c.1667G>A (p.Cys556Tyr) c.1013G>A (p.Cys338Tyr) c.1457G>A (p.Cys486Tyr) | gnomAD v4 |
9 | g.135769959G>C | CA375505849 | KCNT1 | c.1523G>C (p.Cys508Ser) c.1364G>C (p.Cys455Ser) c.1271G>C (p.Cys424Ser) c.1280G>C (p.Cys427Ser) c.1424G>C (p.Cys475Ser) c.*1133G>C (n.*1133G>C) c.1406G>C (p.Cys469Ser) c.1466G>C (p.Cys489Ser) n.1342G>C c.1388G>C (p.Cys463Ser) c.1658G>C (p.Cys553Ser) c.1667G>C (p.Cys556Ser) c.1013G>C (p.Cys338Ser) c.1457G>C (p.Cys486Ser) | |
9 | g.135769959G>T | CA375505847 | KCNT1 | c.1523G>T (p.Cys508Phe) c.1364G>T (p.Cys455Phe) c.1271G>T (p.Cys424Phe) c.1280G>T (p.Cys427Phe) c.1424G>T (p.Cys475Phe) c.*1133G>T (n.*1133G>T) c.1406G>T (p.Cys469Phe) c.1466G>T (p.Cys489Phe) n.1342G>T c.1388G>T (p.Cys463Phe) c.1658G>T (p.Cys553Phe) c.1667G>T (p.Cys556Phe) c.1013G>T (p.Cys338Phe) c.1457G>T (p.Cys486Phe) | gnomAD v4 |
9 | g.135769960T>A | CA375505850 | KCNT1 | c.1524T>A (p.Cys508Ter) c.1365T>A (p.Cys455Ter) c.1272T>A (p.Cys424Ter) c.1281T>A (p.Cys427Ter) c.1425T>A (p.Cys475Ter) c.*1134T>A (n.*1134T>A) c.1407T>A (p.Cys469Ter) c.1467T>A (p.Cys489Ter) n.1343T>A c.1389T>A (p.Cys463Ter) c.1659T>A (p.Cys553Ter) c.1668T>A (p.Cys556Ter) c.1014T>A (p.Cys338Ter) c.1458T>A (p.Cys486Ter) | |
9 | g.135769960T>C | CA467698381 | KCNT1 | c.1524T>C (p.Cys508=) c.1365T>C (p.Cys455=) c.1272T>C (p.Cys424=) c.1281T>C (p.Cys427=) c.1425T>C (p.Cys475=) c.*1134T>C (n.*1134T>C) c.1407T>C (p.Cys469=) c.1467T>C (p.Cys489=) n.1343T>C c.1389T>C (p.Cys463=) c.1659T>C (p.Cys553=) c.1668T>C (p.Cys556=) c.1014T>C (p.Cys338=) c.1458T>C (p.Cys486=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135769960T>G | CA375505851 | KCNT1 | c.1524T>G (p.Cys508Trp) c.1365T>G (p.Cys455Trp) c.1272T>G (p.Cys424Trp) c.1281T>G (p.Cys427Trp) c.1425T>G (p.Cys475Trp) c.*1134T>G (n.*1134T>G) c.1407T>G (p.Cys469Trp) c.1467T>G (p.Cys489Trp) n.1343T>G c.1389T>G (p.Cys463Trp) c.1659T>G (p.Cys553Trp) c.1668T>G (p.Cys556Trp) c.1014T>G (p.Cys338Trp) c.1458T>G (p.Cys486Trp) | |
9 | g.135769960T= | CA1883872404 | KCNT1 | c.1524T= (p.Cys508=) c.1365T= (p.Cys455=) c.1272T= (p.Cys424=) c.1281T= (p.Cys427=) c.1425T= (p.Cys475=) c.*1134T= (n.*1134T=) c.1407T= (p.Cys469=) c.1467T= (p.Cys489=) n.1343T= c.1389T= (p.Cys463=) c.1659T= (p.Cys553=) c.1668T= (p.Cys556=) c.1014T= (p.Cys338=) c.1458T= (p.Cys486=) | |
9 | g.135769960_135769963delinsTGAG | CA1883872403 | KCNT1 | c.1524_1527delinsTGAG (p.Cys508=) c.1365_1368delinsTGAG (p.Cys455=) c.1272_1275delinsTGAG (p.Cys424=) c.1281_1284delinsTGAG (p.Cys427=) c.1425_1428delinsTGAG (p.Cys475=) c.*1134_*1137delinsTGAG (n.*1134_*1137delinsTGAG) c.1407_1410delinsTGAG (p.Cys469=) c.1467_1470delinsTGAG (p.Cys489=) n.1343_1346delinsTGAG c.1389_1392delinsTGAG (p.Cys463=) c.1659_1662delinsTGAG (p.Cys553=) c.1668_1671delinsTGAG (p.Cys556=) c.1014_1017delinsTGAG (p.Cys338=) c.1458_1461delinsTGAG (p.Cys486=) | |
9 | g.135769961G>A | CA375505852 | KCNT1 | c.1525G>A (p.Glu509Lys) c.1366G>A (p.Glu456Lys) c.1273G>A (p.Glu425Lys) c.1282G>A (p.Glu428Lys) c.1426G>A (p.Glu476Lys) c.*1135G>A (n.*1135G>A) c.1408G>A (p.Glu470Lys) c.1468G>A (p.Glu490Lys) n.1344G>A c.1390G>A (p.Glu464Lys) c.1660G>A (p.Glu554Lys) c.1669G>A (p.Glu557Lys) c.1015G>A (p.Glu339Lys) c.1459G>A (p.Glu487Lys) | |
9 | g.135769961G>C | CA375505853 | KCNT1 | c.1525G>C (p.Glu509Gln) c.1366G>C (p.Glu456Gln) c.1273G>C (p.Glu425Gln) c.1282G>C (p.Glu428Gln) c.1426G>C (p.Glu476Gln) c.*1135G>C (n.*1135G>C) c.1408G>C (p.Glu470Gln) c.1468G>C (p.Glu490Gln) n.1344G>C c.1390G>C (p.Glu464Gln) c.1660G>C (p.Glu554Gln) c.1669G>C (p.Glu557Gln) c.1015G>C (p.Glu339Gln) c.1459G>C (p.Glu487Gln) | |
9 | g.135769961G>T | CA375505854 | KCNT1 | c.1525G>T (p.Glu509Ter) c.1366G>T (p.Glu456Ter) c.1273G>T (p.Glu425Ter) c.1282G>T (p.Glu428Ter) c.1426G>T (p.Glu476Ter) c.*1135G>T (n.*1135G>T) c.1408G>T (p.Glu470Ter) c.1468G>T (p.Glu490Ter) n.1344G>T c.1390G>T (p.Glu464Ter) c.1660G>T (p.Glu554Ter) c.1669G>T (p.Glu557Ter) c.1015G>T (p.Glu339Ter) c.1459G>T (p.Glu487Ter) | dbSNP gnomAD v4 |
9 | g.135769967_135769969del | CA467698382 | KCNT1 | c.1531_1533del (p.Glu511del) c.1372_1374del (p.Glu458del) c.1279_1281del (p.Glu427del) c.1288_1290del (p.Glu430del) c.1432_1434del (p.Glu478del) c.*1141_*1143del (n.*1141_*1143del) c.1414_1416del (p.Glu472del) c.1474_1476del (p.Glu492del) n.1350_1352del c.1396_1398del (p.Glu466del) c.1666_1668del (p.Glu556del) c.1675_1677del (p.Glu559del) c.1021_1023del (p.Glu341del) c.1465_1467del (p.Glu489del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.135769962A>C | CA375505857 | KCNT1 | c.1526A>C (p.Glu509Ala) c.1367A>C (p.Glu456Ala) c.1274A>C (p.Glu425Ala) c.1283A>C (p.Glu428Ala) c.1427A>C (p.Glu476Ala) c.*1136A>C (n.*1136A>C) c.1409A>C (p.Glu470Ala) c.1469A>C (p.Glu490Ala) n.1345A>C c.1391A>C (p.Glu464Ala) c.1661A>C (p.Glu554Ala) c.1670A>C (p.Glu557Ala) c.1016A>C (p.Glu339Ala) c.1460A>C (p.Glu487Ala) | |
9 | g.135769962A>G | CA375505855 | KCNT1 | c.1526A>G (p.Glu509Gly) c.1367A>G (p.Glu456Gly) c.1274A>G (p.Glu425Gly) c.1283A>G (p.Glu428Gly) c.1427A>G (p.Glu476Gly) c.*1136A>G (n.*1136A>G) c.1409A>G (p.Glu470Gly) c.1469A>G (p.Glu490Gly) n.1345A>G c.1391A>G (p.Glu464Gly) c.1661A>G (p.Glu554Gly) c.1670A>G (p.Glu557Gly) c.1016A>G (p.Glu339Gly) c.1460A>G (p.Glu487Gly) | gnomAD v4 |
9 | g.135769962A>T | CA375505856 | KCNT1 | c.1526A>T (p.Glu509Val) c.1367A>T (p.Glu456Val) c.1274A>T (p.Glu425Val) c.1283A>T (p.Glu428Val) c.1427A>T (p.Glu476Val) c.*1136A>T (n.*1136A>T) c.1409A>T (p.Glu470Val) c.1469A>T (p.Glu490Val) n.1345A>T c.1391A>T (p.Glu464Val) c.1661A>T (p.Glu554Val) c.1670A>T (p.Glu557Val) c.1016A>T (p.Glu339Val) c.1460A>T (p.Glu487Val) | gnomAD v4 |
9 | g.135769963G>A | CA467698383 | KCNT1 | c.1527G>A (p.Glu509=) c.1368G>A (p.Glu456=) c.1275G>A (p.Glu425=) c.1284G>A (p.Glu428=) c.1428G>A (p.Glu476=) c.*1137G>A (n.*1137G>A) c.1410G>A (p.Glu470=) c.1470G>A (p.Glu490=) n.1346G>A c.1392G>A (p.Glu464=) c.1662G>A (p.Glu554=) c.1671G>A (p.Glu557=) c.1017G>A (p.Glu339=) c.1461G>A (p.Glu487=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135769963G>C | CA375505858 | KCNT1 | c.1527G>C (p.Glu509Asp) c.1368G>C (p.Glu456Asp) c.1275G>C (p.Glu425Asp) c.1284G>C (p.Glu428Asp) c.1428G>C (p.Glu476Asp) c.*1137G>C (n.*1137G>C) c.1410G>C (p.Glu470Asp) c.1470G>C (p.Glu490Asp) n.1346G>C c.1392G>C (p.Glu464Asp) c.1662G>C (p.Glu554Asp) c.1671G>C (p.Glu557Asp) c.1017G>C (p.Glu339Asp) c.1461G>C (p.Glu487Asp) | |
9 | g.135769963G= | CA1883872414 | KCNT1 | c.1527G= (p.Glu509=) c.1368G= (p.Glu456=) c.1275G= (p.Glu425=) c.1284G= (p.Glu428=) c.1428G= (p.Glu476=) c.*1137G= (n.*1137G=) c.1410G= (p.Glu470=) c.1470G= (p.Glu490=) n.1346G= c.1392G= (p.Glu464=) c.1662G= (p.Glu554=) c.1671G= (p.Glu557=) c.1017G= (p.Glu339=) c.1461G= (p.Glu487=) | |
9 | g.135769963G>T | CA375505859 | KCNT1 | c.1527G>T (p.Glu509Asp) c.1368G>T (p.Glu456Asp) c.1275G>T (p.Glu425Asp) c.1284G>T (p.Glu428Asp) c.1428G>T (p.Glu476Asp) c.*1137G>T (n.*1137G>T) c.1410G>T (p.Glu470Asp) c.1470G>T (p.Glu490Asp) n.1346G>T c.1392G>T (p.Glu464Asp) c.1662G>T (p.Glu554Asp) c.1671G>T (p.Glu557Asp) c.1017G>T (p.Glu339Asp) c.1461G>T (p.Glu487Asp) | gnomAD v4 |
9 | g.135769964G>A | CA375505860 | KCNT1 | c.1528G>A (p.Glu510Lys) c.1369G>A (p.Glu457Lys) c.1276G>A (p.Glu426Lys) c.1285G>A (p.Glu429Lys) c.1429G>A (p.Glu477Lys) c.*1138G>A (n.*1138G>A) c.1411G>A (p.Glu471Lys) c.1471G>A (p.Glu491Lys) n.1347G>A c.1393G>A (p.Glu465Lys) c.1663G>A (p.Glu555Lys) c.1672G>A (p.Glu558Lys) c.1018G>A (p.Glu340Lys) c.1462G>A (p.Glu488Lys) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.135769964G>C | CA375505861 | KCNT1 | c.1528G>C (p.Glu510Gln) c.1369G>C (p.Glu457Gln) c.1276G>C (p.Glu426Gln) c.1285G>C (p.Glu429Gln) c.1429G>C (p.Glu477Gln) c.*1138G>C (n.*1138G>C) c.1411G>C (p.Glu471Gln) c.1471G>C (p.Glu491Gln) n.1347G>C c.1393G>C (p.Glu465Gln) c.1663G>C (p.Glu555Gln) c.1672G>C (p.Glu558Gln) c.1018G>C (p.Glu340Gln) c.1462G>C (p.Glu488Gln) | |
9 | g.135769964G= | CA1883872415 | KCNT1 | c.1528G= (p.Glu510=) c.1369G= (p.Glu457=) c.1276G= (p.Glu426=) c.1285G= (p.Glu429=) c.1429G= (p.Glu477=) c.*1138G= (n.*1138G=) c.1411G= (p.Glu471=) c.1471G= (p.Glu491=) n.1347G= c.1393G= (p.Glu465=) c.1663G= (p.Glu555=) c.1672G= (p.Glu558=) c.1018G= (p.Glu340=) c.1462G= (p.Glu488=) | |
9 | g.135769964G>T | CA375505862 | KCNT1 | c.1528G>T (p.Glu510Ter) c.1369G>T (p.Glu457Ter) c.1276G>T (p.Glu426Ter) c.1285G>T (p.Glu429Ter) c.1429G>T (p.Glu477Ter) c.*1138G>T (n.*1138G>T) c.1411G>T (p.Glu471Ter) c.1471G>T (p.Glu491Ter) n.1347G>T c.1393G>T (p.Glu465Ter) c.1663G>T (p.Glu555Ter) c.1672G>T (p.Glu558Ter) c.1018G>T (p.Glu340Ter) c.1462G>T (p.Glu488Ter) | gnomAD v4 |
9 | g.135769965A>C | CA375505863 | KCNT1 | c.1529A>C (p.Glu510Ala) c.1370A>C (p.Glu457Ala) c.1277A>C (p.Glu426Ala) c.1286A>C (p.Glu429Ala) c.1430A>C (p.Glu477Ala) c.*1139A>C (n.*1139A>C) c.1412A>C (p.Glu471Ala) c.1472A>C (p.Glu491Ala) n.1348A>C c.1394A>C (p.Glu465Ala) c.1664A>C (p.Glu555Ala) c.1673A>C (p.Glu558Ala) c.1019A>C (p.Glu340Ala) c.1463A>C (p.Glu488Ala) | |
9 | g.135769965A>G | CA375505865 | KCNT1 | c.1529A>G (p.Glu510Gly) c.1370A>G (p.Glu457Gly) c.1277A>G (p.Glu426Gly) c.1286A>G (p.Glu429Gly) c.1430A>G (p.Glu477Gly) c.*1139A>G (n.*1139A>G) c.1412A>G (p.Glu471Gly) c.1472A>G (p.Glu491Gly) n.1348A>G c.1394A>G (p.Glu465Gly) c.1664A>G (p.Glu555Gly) c.1673A>G (p.Glu558Gly) c.1019A>G (p.Glu340Gly) c.1463A>G (p.Glu488Gly) | |
9 | g.135769965A>T | CA375505864 | KCNT1 | c.1529A>T (p.Glu510Val) c.1370A>T (p.Glu457Val) c.1277A>T (p.Glu426Val) c.1286A>T (p.Glu429Val) c.1430A>T (p.Glu477Val) c.*1139A>T (n.*1139A>T) c.1412A>T (p.Glu471Val) c.1472A>T (p.Glu491Val) n.1348A>T c.1394A>T (p.Glu465Val) c.1664A>T (p.Glu555Val) c.1673A>T (p.Glu558Val) c.1019A>T (p.Glu340Val) c.1463A>T (p.Glu488Val) | |
9 | g.135769966G>A | CA5326960 | KCNT1 | c.1530G>A (p.Glu510=) c.1371G>A (p.Glu457=) c.1278G>A (p.Glu426=) c.1287G>A (p.Glu429=) c.1431G>A (p.Glu477=) c.*1140G>A (n.*1140G>A) c.1413G>A (p.Glu471=) c.1473G>A (p.Glu491=) n.1349G>A c.1395G>A (p.Glu465=) c.1665G>A (p.Glu555=) c.1674G>A (p.Glu558=) c.1020G>A (p.Glu340=) c.1464G>A (p.Glu488=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135769966G>C | CA375505866 | KCNT1 | c.1530G>C (p.Glu510Asp) c.1371G>C (p.Glu457Asp) c.1278G>C (p.Glu426Asp) c.1287G>C (p.Glu429Asp) c.1431G>C (p.Glu477Asp) c.*1140G>C (n.*1140G>C) c.1413G>C (p.Glu471Asp) c.1473G>C (p.Glu491Asp) n.1349G>C c.1395G>C (p.Glu465Asp) c.1665G>C (p.Glu555Asp) c.1674G>C (p.Glu558Asp) c.1020G>C (p.Glu340Asp) c.1464G>C (p.Glu488Asp) | |
9 | g.135769966G= | CA1883872418 | KCNT1 | c.1530G= (p.Glu510=) c.1371G= (p.Glu457=) c.1278G= (p.Glu426=) c.1287G= (p.Glu429=) c.1431G= (p.Glu477=) c.*1140G= (n.*1140G=) c.1413G= (p.Glu471=) c.1473G= (p.Glu491=) n.1349G= c.1395G= (p.Glu465=) c.1665G= (p.Glu555=) c.1674G= (p.Glu558=) c.1020G= (p.Glu340=) c.1464G= (p.Glu488=) | |
9 | g.135769966G>T | CA375505867 | KCNT1 | c.1530G>T (p.Glu510Asp) c.1371G>T (p.Glu457Asp) c.1278G>T (p.Glu426Asp) c.1287G>T (p.Glu429Asp) c.1431G>T (p.Glu477Asp) c.*1140G>T (n.*1140G>T) c.1413G>T (p.Glu471Asp) c.1473G>T (p.Glu491Asp) n.1349G>T c.1395G>T (p.Glu465Asp) c.1665G>T (p.Glu555Asp) c.1674G>T (p.Glu558Asp) c.1020G>T (p.Glu340Asp) c.1464G>T (p.Glu488Asp) | gnomAD v4 |
9 | g.135769967del | CA2720684022 | KCNT1 | c.1531del (p.Glu511SerfsTer9) c.1372del (p.Glu458SerfsTer9) c.1279del (p.Glu427SerfsTer9) c.1288del (p.Glu430SerfsTer9) c.1432del (p.Glu478SerfsTer9) c.*1141del (n.*1141del) c.1414del (p.Glu472SerfsTer9) c.1474del (p.Glu492SerfsTer9) n.1350del c.1396del (p.Glu466SerfsTer9) c.1666del (p.Glu556SerfsTer9) c.1675del (p.Glu559SerfsTer9) c.1021del (p.Glu341SerfsTer9) c.1465del (p.Glu489SerfsTer9) | dbSNP |
9 | g.135769967G>A | CA375505868 | KCNT1 | c.1531G>A (p.Glu511Lys) c.1372G>A (p.Glu458Lys) c.1279G>A (p.Glu427Lys) c.1288G>A (p.Glu430Lys) c.1432G>A (p.Glu478Lys) c.*1141G>A (n.*1141G>A) c.1414G>A (p.Glu472Lys) c.1474G>A (p.Glu492Lys) n.1350G>A c.1396G>A (p.Glu466Lys) c.1666G>A (p.Glu556Lys) c.1675G>A (p.Glu559Lys) c.1021G>A (p.Glu341Lys) c.1465G>A (p.Glu489Lys) | gnomAD v4 |
9 | g.135769967G>C | CA375505869 | KCNT1 | c.1531G>C (p.Glu511Gln) c.1372G>C (p.Glu458Gln) c.1279G>C (p.Glu427Gln) c.1288G>C (p.Glu430Gln) c.1432G>C (p.Glu478Gln) c.*1141G>C (n.*1141G>C) c.1414G>C (p.Glu472Gln) c.1474G>C (p.Glu492Gln) n.1350G>C c.1396G>C (p.Glu466Gln) c.1666G>C (p.Glu556Gln) c.1675G>C (p.Glu559Gln) c.1021G>C (p.Glu341Gln) c.1465G>C (p.Glu489Gln) | |
9 | g.135769967G>T | CA375505870 | KCNT1 | c.1531G>T (p.Glu511Ter) c.1372G>T (p.Glu458Ter) c.1279G>T (p.Glu427Ter) c.1288G>T (p.Glu430Ter) c.1432G>T (p.Glu478Ter) c.*1141G>T (n.*1141G>T) c.1414G>T (p.Glu472Ter) c.1474G>T (p.Glu492Ter) n.1350G>T c.1396G>T (p.Glu466Ter) c.1666G>T (p.Glu556Ter) c.1675G>T (p.Glu559Ter) c.1021G>T (p.Glu341Ter) c.1465G>T (p.Glu489Ter) | gnomAD v4 |
9 | g.135769968A= | CA1883872422 | KCNT1 | c.1532A= (p.Glu511=) c.1373A= (p.Glu458=) c.1280A= (p.Glu427=) c.1289A= (p.Glu430=) c.1433A= (p.Glu478=) c.*1142A= (n.*1142A=) c.1415A= (p.Glu472=) c.1475A= (p.Glu492=) n.1351A= c.1397A= (p.Glu466=) c.1667A= (p.Glu556=) c.1676A= (p.Glu559=) c.1022A= (p.Glu341=) c.1466A= (p.Glu489=) | |
9 | g.135769968A>C | CA375505871 | KCNT1 | c.1532A>C (p.Glu511Ala) c.1373A>C (p.Glu458Ala) c.1280A>C (p.Glu427Ala) c.1289A>C (p.Glu430Ala) c.1433A>C (p.Glu478Ala) c.*1142A>C (n.*1142A>C) c.1415A>C (p.Glu472Ala) c.1475A>C (p.Glu492Ala) n.1351A>C c.1397A>C (p.Glu466Ala) c.1667A>C (p.Glu556Ala) c.1676A>C (p.Glu559Ala) c.1022A>C (p.Glu341Ala) c.1466A>C (p.Glu489Ala) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135769968A>G | CA375505872 | KCNT1 | c.1532A>G (p.Glu511Gly) c.1373A>G (p.Glu458Gly) c.1280A>G (p.Glu427Gly) c.1289A>G (p.Glu430Gly) c.1433A>G (p.Glu478Gly) c.*1142A>G (n.*1142A>G) c.1415A>G (p.Glu472Gly) c.1475A>G (p.Glu492Gly) n.1351A>G c.1397A>G (p.Glu466Gly) c.1667A>G (p.Glu556Gly) c.1676A>G (p.Glu559Gly) c.1022A>G (p.Glu341Gly) c.1466A>G (p.Glu489Gly) | gnomAD v4 |
9 | g.135769968A>T | CA375505873 | KCNT1 | c.1532A>T (p.Glu511Val) c.1373A>T (p.Glu458Val) c.1280A>T (p.Glu427Val) c.1289A>T (p.Glu430Val) c.1433A>T (p.Glu478Val) c.*1142A>T (n.*1142A>T) c.1415A>T (p.Glu472Val) c.1475A>T (p.Glu492Val) n.1351A>T c.1397A>T (p.Glu466Val) c.1667A>T (p.Glu556Val) c.1676A>T (p.Glu559Val) c.1022A>T (p.Glu341Val) c.1466A>T (p.Glu489Val) | |
9 | g.135769969G>A | CA207727 | KCNT1 | c.1533G>A (p.Glu511=) c.1374G>A (p.Glu458=) c.1281G>A (p.Glu427=) c.1290G>A (p.Glu430=) c.1434G>A (p.Glu478=) c.*1143G>A (n.*1143G>A) c.1416G>A (p.Glu472=) c.1476G>A (p.Glu492=) n.1352G>A c.1398G>A (p.Glu466=) c.1668G>A (p.Glu556=) c.1677G>A (p.Glu559=) c.1023G>A (p.Glu341=) c.1467G>A (p.Glu489=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135769969G>C | CA375505874 | KCNT1 | c.1533G>C (p.Glu511Asp) c.1374G>C (p.Glu458Asp) c.1281G>C (p.Glu427Asp) c.1290G>C (p.Glu430Asp) c.1434G>C (p.Glu478Asp) c.*1143G>C (n.*1143G>C) c.1416G>C (p.Glu472Asp) c.1476G>C (p.Glu492Asp) n.1352G>C c.1398G>C (p.Glu466Asp) c.1668G>C (p.Glu556Asp) c.1677G>C (p.Glu559Asp) c.1023G>C (p.Glu341Asp) c.1467G>C (p.Glu489Asp) | |
9 | g.135769969G= | CA1883872429 | KCNT1 | c.1533G= (p.Glu511=) c.1374G= (p.Glu458=) c.1281G= (p.Glu427=) c.1290G= (p.Glu430=) c.1434G= (p.Glu478=) c.*1143G= (n.*1143G=) c.1416G= (p.Glu472=) c.1476G= (p.Glu492=) n.1352G= c.1398G= (p.Glu466=) c.1668G= (p.Glu556=) c.1677G= (p.Glu559=) c.1023G= (p.Glu341=) c.1467G= (p.Glu489=) | |
9 | g.135769969G>T | CA375505875 | KCNT1 | c.1533G>T (p.Glu511Asp) c.1374G>T (p.Glu458Asp) c.1281G>T (p.Glu427Asp) c.1290G>T (p.Glu430Asp) c.1434G>T (p.Glu478Asp) c.*1143G>T (n.*1143G>T) c.1416G>T (p.Glu472Asp) c.1476G>T (p.Glu492Asp) n.1352G>T c.1398G>T (p.Glu466Asp) c.1668G>T (p.Glu556Asp) c.1677G>T (p.Glu559Asp) c.1023G>T (p.Glu341Asp) c.1467G>T (p.Glu489Asp) | gnomAD v4 |
9 | g.135769970T>A | CA375505877 | KCNT1 | c.1534T>A (p.Cys512Ser) c.1375T>A (p.Cys459Ser) c.1282T>A (p.Cys428Ser) c.1291T>A (p.Cys431Ser) c.1435T>A (p.Cys479Ser) c.*1144T>A (n.*1144T>A) c.1417T>A (p.Cys473Ser) c.1477T>A (p.Cys493Ser) n.1353T>A c.1399T>A (p.Cys467Ser) c.1669T>A (p.Cys557Ser) c.1678T>A (p.Cys560Ser) c.1024T>A (p.Cys342Ser) c.1468T>A (p.Cys490Ser) | |
9 | g.135769970T>C | CA375505878 | KCNT1 | c.1534T>C (p.Cys512Arg) c.1375T>C (p.Cys459Arg) c.1282T>C (p.Cys428Arg) c.1291T>C (p.Cys431Arg) c.1435T>C (p.Cys479Arg) c.*1144T>C (n.*1144T>C) c.1417T>C (p.Cys473Arg) c.1477T>C (p.Cys493Arg) n.1353T>C c.1399T>C (p.Cys467Arg) c.1669T>C (p.Cys557Arg) c.1678T>C (p.Cys560Arg) c.1024T>C (p.Cys342Arg) c.1468T>C (p.Cys490Arg) | ClinVar dbSNP gnomAD v4 |
9 | g.135769970T>G | CA375505876 | KCNT1 | c.1534T>G (p.Cys512Gly) c.1375T>G (p.Cys459Gly) c.1282T>G (p.Cys428Gly) c.1291T>G (p.Cys431Gly) c.1435T>G (p.Cys479Gly) c.*1144T>G (n.*1144T>G) c.1417T>G (p.Cys473Gly) c.1477T>G (p.Cys493Gly) n.1353T>G c.1399T>G (p.Cys467Gly) c.1669T>G (p.Cys557Gly) c.1678T>G (p.Cys560Gly) c.1024T>G (p.Cys342Gly) c.1468T>G (p.Cys490Gly) | |
9 | g.135769970T= | CA1883872438 | KCNT1 | c.1534T= (p.Cys512=) c.1375T= (p.Cys459=) c.1282T= (p.Cys428=) c.1291T= (p.Cys431=) c.1435T= (p.Cys479=) c.*1144T= (n.*1144T=) c.1417T= (p.Cys473=) c.1477T= (p.Cys493=) n.1353T= c.1399T= (p.Cys467=) c.1669T= (p.Cys557=) c.1678T= (p.Cys560=) c.1024T= (p.Cys342=) c.1468T= (p.Cys490=) | |
9 | g.135769971G>A | CA375505881 | KCNT1 | c.1535G>A (p.Cys512Tyr) c.1376G>A (p.Cys459Tyr) c.1283G>A (p.Cys428Tyr) c.1292G>A (p.Cys431Tyr) c.1436G>A (p.Cys479Tyr) c.*1145G>A (n.*1145G>A) c.1418G>A (p.Cys473Tyr) c.1478G>A (p.Cys493Tyr) n.1354G>A c.1400G>A (p.Cys467Tyr) c.1670G>A (p.Cys557Tyr) c.1679G>A (p.Cys560Tyr) c.1025G>A (p.Cys342Tyr) c.1469G>A (p.Cys490Tyr) | gnomAD v4 |
9 | g.135769971G>C | CA375505879 | KCNT1 | c.1535G>C (p.Cys512Ser) c.1376G>C (p.Cys459Ser) c.1283G>C (p.Cys428Ser) c.1292G>C (p.Cys431Ser) c.1436G>C (p.Cys479Ser) c.*1145G>C (n.*1145G>C) c.1418G>C (p.Cys473Ser) c.1478G>C (p.Cys493Ser) n.1354G>C c.1400G>C (p.Cys467Ser) c.1670G>C (p.Cys557Ser) c.1679G>C (p.Cys560Ser) c.1025G>C (p.Cys342Ser) c.1469G>C (p.Cys490Ser) | |
9 | g.135769971G>T | CA375505880 | KCNT1 | c.1535G>T (p.Cys512Phe) c.1376G>T (p.Cys459Phe) c.1283G>T (p.Cys428Phe) c.1292G>T (p.Cys431Phe) c.1436G>T (p.Cys479Phe) c.*1145G>T (n.*1145G>T) c.1418G>T (p.Cys473Phe) c.1478G>T (p.Cys493Phe) n.1354G>T c.1400G>T (p.Cys467Phe) c.1670G>T (p.Cys557Phe) c.1679G>T (p.Cys560Phe) c.1025G>T (p.Cys342Phe) c.1469G>T (p.Cys490Phe) | gnomAD v4 |
9 | g.135769972C>A | CA375505882 | KCNT1 | c.1536C>A (p.Cys512Ter) c.1377C>A (p.Cys459Ter) c.1284C>A (p.Cys428Ter) c.1293C>A (p.Cys431Ter) c.1437C>A (p.Cys479Ter) c.*1146C>A (n.*1146C>A) c.1419C>A (p.Cys473Ter) c.1479C>A (p.Cys493Ter) n.1355C>A c.1401C>A (p.Cys467Ter) c.1671C>A (p.Cys557Ter) c.1680C>A (p.Cys560Ter) c.1026C>A (p.Cys342Ter) c.1470C>A (p.Cys490Ter) | gnomAD v4 |
9 | g.135769972C>G | CA375505883 | KCNT1 | c.1536C>G (p.Cys512Trp) c.1377C>G (p.Cys459Trp) c.1284C>G (p.Cys428Trp) c.1293C>G (p.Cys431Trp) c.1437C>G (p.Cys479Trp) c.*1146C>G (n.*1146C>G) c.1419C>G (p.Cys473Trp) c.1479C>G (p.Cys493Trp) n.1355C>G c.1401C>G (p.Cys467Trp) c.1671C>G (p.Cys557Trp) c.1680C>G (p.Cys560Trp) c.1026C>G (p.Cys342Trp) c.1470C>G (p.Cys490Trp) | |
9 | g.135769972C>T | CA467698384 | KCNT1 | c.1536C>T (p.Cys512=) c.1377C>T (p.Cys459=) c.1284C>T (p.Cys428=) c.1293C>T (p.Cys431=) c.1437C>T (p.Cys479=) c.*1146C>T (n.*1146C>T) c.1419C>T (p.Cys473=) c.1479C>T (p.Cys493=) n.1355C>T c.1401C>T (p.Cys467=) c.1671C>T (p.Cys557=) c.1680C>T (p.Cys560=) c.1026C>T (p.Cys342=) c.1470C>T (p.Cys490=) | gnomAD v4 |
9 | g.135769973A>C | CA375505884 | KCNT1 | c.1537A>C (p.Lys513Gln) c.1378A>C (p.Lys460Gln) c.1285A>C (p.Lys429Gln) c.1294A>C (p.Lys432Gln) c.1438A>C (p.Lys480Gln) c.*1147A>C (n.*1147A>C) c.1420A>C (p.Lys474Gln) c.1480A>C (p.Lys494Gln) n.1356A>C c.1402A>C (p.Lys468Gln) c.1672A>C (p.Lys558Gln) c.1681A>C (p.Lys561Gln) c.1027A>C (p.Lys343Gln) c.1471A>C (p.Lys491Gln) | |
9 | g.135769973A>G | CA375505885 | KCNT1 | c.1537A>G (p.Lys513Glu) c.1378A>G (p.Lys460Glu) c.1285A>G (p.Lys429Glu) c.1294A>G (p.Lys432Glu) c.1438A>G (p.Lys480Glu) c.*1147A>G (n.*1147A>G) c.1420A>G (p.Lys474Glu) c.1480A>G (p.Lys494Glu) n.1356A>G c.1402A>G (p.Lys468Glu) c.1672A>G (p.Lys558Glu) c.1681A>G (p.Lys561Glu) c.1027A>G (p.Lys343Glu) c.1471A>G (p.Lys491Glu) | gnomAD v4 |
9 | g.135769973A>T | CA375505886 | KCNT1 | c.1537A>T (p.Lys513Ter) c.1378A>T (p.Lys460Ter) c.1285A>T (p.Lys429Ter) c.1294A>T (p.Lys432Ter) c.1438A>T (p.Lys480Ter) c.*1147A>T (n.*1147A>T) c.1420A>T (p.Lys474Ter) c.1480A>T (p.Lys494Ter) n.1356A>T c.1402A>T (p.Lys468Ter) c.1672A>T (p.Lys558Ter) c.1681A>T (p.Lys561Ter) c.1027A>T (p.Lys343Ter) c.1471A>T (p.Lys491Ter) | gnomAD v4 |
9 | g.135769974A>C | CA375505887 | KCNT1 | c.1538A>C (p.Lys513Thr) c.1379A>C (p.Lys460Thr) c.1286A>C (p.Lys429Thr) c.1295A>C (p.Lys432Thr) c.1439A>C (p.Lys480Thr) c.*1148A>C (n.*1148A>C) c.1421A>C (p.Lys474Thr) c.1481A>C (p.Lys494Thr) n.1357A>C c.1403A>C (p.Lys468Thr) c.1673A>C (p.Lys558Thr) c.1682A>C (p.Lys561Thr) c.1028A>C (p.Lys343Thr) c.1472A>C (p.Lys491Thr) | |
9 | g.135769974A>G | CA375505888 | KCNT1 | c.1538A>G (p.Lys513Arg) c.1379A>G (p.Lys460Arg) c.1286A>G (p.Lys429Arg) c.1295A>G (p.Lys432Arg) c.1439A>G (p.Lys480Arg) c.*1148A>G (n.*1148A>G) c.1421A>G (p.Lys474Arg) c.1481A>G (p.Lys494Arg) n.1357A>G c.1403A>G (p.Lys468Arg) c.1673A>G (p.Lys558Arg) c.1682A>G (p.Lys561Arg) c.1028A>G (p.Lys343Arg) c.1472A>G (p.Lys491Arg) | gnomAD v4 |
9 | g.135769974A>T | CA375505889 | KCNT1 | c.1538A>T (p.Lys513Met) c.1379A>T (p.Lys460Met) c.1286A>T (p.Lys429Met) c.1295A>T (p.Lys432Met) c.1439A>T (p.Lys480Met) c.*1148A>T (n.*1148A>T) c.1421A>T (p.Lys474Met) c.1481A>T (p.Lys494Met) n.1357A>T c.1403A>T (p.Lys468Met) c.1673A>T (p.Lys558Met) c.1682A>T (p.Lys561Met) c.1028A>T (p.Lys343Met) c.1472A>T (p.Lys491Met) | |
9 | g.135769975G>A | CA467698385 | KCNT1 | c.1539G>A (p.Lys513=) c.1380G>A (p.Lys460=) c.1287G>A (p.Lys429=) c.1296G>A (p.Lys432=) c.1440G>A (p.Lys480=) c.*1149G>A (n.*1149G>A) c.1422G>A (p.Lys474=) c.1482G>A (p.Lys494=) n.1358G>A c.1404G>A (p.Lys468=) c.1674G>A (p.Lys558=) c.1683G>A (p.Lys561=) c.1029G>A (p.Lys343=) c.1473G>A (p.Lys491=) | gnomAD v4 |
9 | g.135769975G>C | CA375505890 | KCNT1 | c.1539G>C (p.Lys513Asn) c.1380G>C (p.Lys460Asn) c.1287G>C (p.Lys429Asn) c.1296G>C (p.Lys432Asn) c.1440G>C (p.Lys480Asn) c.*1149G>C (n.*1149G>C) c.1422G>C (p.Lys474Asn) c.1482G>C (p.Lys494Asn) n.1358G>C c.1404G>C (p.Lys468Asn) c.1674G>C (p.Lys558Asn) c.1683G>C (p.Lys561Asn) c.1029G>C (p.Lys343Asn) c.1473G>C (p.Lys491Asn) | |
9 | g.135769975G>T | CA375505891 | KCNT1 | c.1539G>T (p.Lys513Asn) c.1380G>T (p.Lys460Asn) c.1287G>T (p.Lys429Asn) c.1296G>T (p.Lys432Asn) c.1440G>T (p.Lys480Asn) c.*1149G>T (n.*1149G>T) c.1422G>T (p.Lys474Asn) c.1482G>T (p.Lys494Asn) n.1358G>T c.1404G>T (p.Lys468Asn) c.1674G>T (p.Lys558Asn) c.1683G>T (p.Lys561Asn) c.1029G>T (p.Lys343Asn) c.1473G>T (p.Lys491Asn) | gnomAD v4 |
9 | g.135769976_135769979dup | CA2740092932 | KCNT1 | c.1540_1543dup (p.Ala515ValfsTer?) c.1381_1384dup (p.Ala462ValfsTer?) c.1288_1291dup (p.Ala431ValfsTer?) c.1297_1300dup (p.Ala434ValfsTer?) c.1441_1444dup (p.Ala482ValfsTer?) c.*1150_*1153dup (n.*1150_*1153dup) c.1423_1426dup (p.Ala476ValfsTer?) c.1483_1486dup (p.Ala496ValfsTer?) n.1359_1362dup c.1405_1408dup (p.Ala470ValfsTer?) c.1675_1678dup (p.Ala560ValfsTer?) c.1684_1687dup (p.Ala563ValfsTer?) c.1030_1033dup (p.Ala345ValfsTer?) c.1474_1477dup (p.Ala493ValfsTer?) | ClinVar |
9 | g.135769976T>A | CA375505893 | KCNT1 | c.1540T>A (p.Tyr514Asn) c.1381T>A (p.Tyr461Asn) c.1288T>A (p.Tyr430Asn) c.1297T>A (p.Tyr433Asn) c.1441T>A (p.Tyr481Asn) c.*1150T>A (n.*1150T>A) c.1423T>A (p.Tyr475Asn) c.1483T>A (p.Tyr495Asn) n.1359T>A c.1405T>A (p.Tyr469Asn) c.1675T>A (p.Tyr559Asn) c.1684T>A (p.Tyr562Asn) c.1030T>A (p.Tyr344Asn) c.1474T>A (p.Tyr492Asn) | |
9 | g.135769976T>C | CA375505894 | KCNT1 | c.1540T>C (p.Tyr514His) c.1381T>C (p.Tyr461His) c.1288T>C (p.Tyr430His) c.1297T>C (p.Tyr433His) c.1441T>C (p.Tyr481His) c.*1150T>C (n.*1150T>C) c.1423T>C (p.Tyr475His) c.1483T>C (p.Tyr495His) n.1359T>C c.1405T>C (p.Tyr469His) c.1675T>C (p.Tyr559His) c.1684T>C (p.Tyr562His) c.1030T>C (p.Tyr344His) c.1474T>C (p.Tyr492His) | gnomAD v4 |
9 | g.135769976T>G | CA375505892 | KCNT1 | c.1540T>G (p.Tyr514Asp) c.1381T>G (p.Tyr461Asp) c.1288T>G (p.Tyr430Asp) c.1297T>G (p.Tyr433Asp) c.1441T>G (p.Tyr481Asp) c.*1150T>G (n.*1150T>G) c.1423T>G (p.Tyr475Asp) c.1483T>G (p.Tyr495Asp) n.1359T>G c.1405T>G (p.Tyr469Asp) c.1675T>G (p.Tyr559Asp) c.1684T>G (p.Tyr562Asp) c.1030T>G (p.Tyr344Asp) c.1474T>G (p.Tyr492Asp) | |
9 | g.135769977A>C | CA375505895 | KCNT1 | c.1541A>C (p.Tyr514Ser) c.1382A>C (p.Tyr461Ser) c.1289A>C (p.Tyr430Ser) c.1298A>C (p.Tyr433Ser) c.1442A>C (p.Tyr481Ser) c.*1151A>C (n.*1151A>C) c.1424A>C (p.Tyr475Ser) c.1484A>C (p.Tyr495Ser) n.1360A>C c.1406A>C (p.Tyr469Ser) c.1676A>C (p.Tyr559Ser) c.1685A>C (p.Tyr562Ser) c.1031A>C (p.Tyr344Ser) c.1475A>C (p.Tyr492Ser) | |
9 | g.135769977A>G | CA375505896 | KCNT1 | c.1541A>G (p.Tyr514Cys) c.1382A>G (p.Tyr461Cys) c.1289A>G (p.Tyr430Cys) c.1298A>G (p.Tyr433Cys) c.1442A>G (p.Tyr481Cys) c.*1151A>G (n.*1151A>G) c.1424A>G (p.Tyr475Cys) c.1484A>G (p.Tyr495Cys) n.1360A>G c.1406A>G (p.Tyr469Cys) c.1676A>G (p.Tyr559Cys) c.1685A>G (p.Tyr562Cys) c.1031A>G (p.Tyr344Cys) c.1475A>G (p.Tyr492Cys) | |
9 | g.135769977A>T | CA375505897 | KCNT1 | c.1541A>T (p.Tyr514Phe) c.1382A>T (p.Tyr461Phe) c.1289A>T (p.Tyr430Phe) c.1298A>T (p.Tyr433Phe) c.1442A>T (p.Tyr481Phe) c.*1151A>T (n.*1151A>T) c.1424A>T (p.Tyr475Phe) c.1484A>T (p.Tyr495Phe) n.1360A>T c.1406A>T (p.Tyr469Phe) c.1676A>T (p.Tyr559Phe) c.1685A>T (p.Tyr562Phe) c.1031A>T (p.Tyr344Phe) c.1475A>T (p.Tyr492Phe) | |
9 | g.135769978C>A | CA375505898 | KCNT1 | c.1542C>A (p.Tyr514Ter) c.1383C>A (p.Tyr461Ter) c.1290C>A (p.Tyr430Ter) c.1299C>A (p.Tyr433Ter) c.1443C>A (p.Tyr481Ter) c.*1152C>A (n.*1152C>A) c.1425C>A (p.Tyr475Ter) c.1485C>A (p.Tyr495Ter) n.1361C>A c.1407C>A (p.Tyr469Ter) c.1677C>A (p.Tyr559Ter) c.1686C>A (p.Tyr562Ter) c.1032C>A (p.Tyr344Ter) c.1476C>A (p.Tyr492Ter) | gnomAD v4 |
9 | g.135769978C= | CA1883872442 | KCNT1 | c.1542C= (p.Tyr514=) c.1383C= (p.Tyr461=) c.1290C= (p.Tyr430=) c.1299C= (p.Tyr433=) c.1443C= (p.Tyr481=) c.*1152C= (n.*1152C=) c.1425C= (p.Tyr475=) c.1485C= (p.Tyr495=) n.1361C= c.1407C= (p.Tyr469=) c.1677C= (p.Tyr559=) c.1686C= (p.Tyr562=) c.1032C= (p.Tyr344=) c.1476C= (p.Tyr492=) | |
9 | g.135769978C>G | CA375505899 | KCNT1 | c.1542C>G (p.Tyr514Ter) c.1383C>G (p.Tyr461Ter) c.1290C>G (p.Tyr430Ter) c.1299C>G (p.Tyr433Ter) c.1443C>G (p.Tyr481Ter) c.*1152C>G (n.*1152C>G) c.1425C>G (p.Tyr475Ter) c.1485C>G (p.Tyr495Ter) n.1361C>G c.1407C>G (p.Tyr469Ter) c.1677C>G (p.Tyr559Ter) c.1686C>G (p.Tyr562Ter) c.1032C>G (p.Tyr344Ter) c.1476C>G (p.Tyr492Ter) | gnomAD v4 |
9 | g.135769978C>T | CA5326961 | KCNT1 | c.1542C>T (p.Tyr514=) c.1383C>T (p.Tyr461=) c.1290C>T (p.Tyr430=) c.1299C>T (p.Tyr433=) c.1443C>T (p.Tyr481=) c.*1152C>T (n.*1152C>T) c.1425C>T (p.Tyr475=) c.1485C>T (p.Tyr495=) n.1361C>T c.1407C>T (p.Tyr469=) c.1677C>T (p.Tyr559=) c.1686C>T (p.Tyr562=) c.1032C>T (p.Tyr344=) c.1476C>T (p.Tyr492=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135769979G>A | CA375505900 | KCNT1 | c.1543G>A (p.Ala515Thr) c.1384G>A (p.Ala462Thr) c.1291G>A (p.Ala431Thr) c.1300G>A (p.Ala434Thr) c.1444G>A (p.Ala482Thr) c.*1153G>A (n.*1153G>A) c.1426G>A (p.Ala476Thr) c.1486G>A (p.Ala496Thr) n.1362G>A c.1408G>A (p.Ala470Thr) c.1678G>A (p.Ala560Thr) c.1687G>A (p.Ala563Thr) c.1033G>A (p.Ala345Thr) c.1477G>A (p.Ala493Thr) | dbSNP gnomAD v4 |
9 | g.135769979G>C | CA375505902 | KCNT1 | c.1543G>C (p.Ala515Pro) c.1384G>C (p.Ala462Pro) c.1291G>C (p.Ala431Pro) c.1300G>C (p.Ala434Pro) c.1444G>C (p.Ala482Pro) c.*1153G>C (n.*1153G>C) c.1426G>C (p.Ala476Pro) c.1486G>C (p.Ala496Pro) n.1362G>C c.1408G>C (p.Ala470Pro) c.1678G>C (p.Ala560Pro) c.1687G>C (p.Ala563Pro) c.1033G>C (p.Ala345Pro) c.1477G>C (p.Ala493Pro) | gnomAD v4 |
9 | g.135769979G= | CA1883872448 | KCNT1 | c.1543G= (p.Ala515=) c.1384G= (p.Ala462=) c.1291G= (p.Ala431=) c.1300G= (p.Ala434=) c.1444G= (p.Ala482=) c.*1153G= (n.*1153G=) c.1426G= (p.Ala476=) c.1486G= (p.Ala496=) n.1362G= c.1408G= (p.Ala470=) c.1678G= (p.Ala560=) c.1687G= (p.Ala563=) c.1033G= (p.Ala345=) c.1477G= (p.Ala493=) | |
9 | g.135769979G>T | CA375505901 | KCNT1 | c.1543G>T (p.Ala515Ser) c.1384G>T (p.Ala462Ser) c.1291G>T (p.Ala431Ser) c.1300G>T (p.Ala434Ser) c.1444G>T (p.Ala482Ser) c.*1153G>T (n.*1153G>T) c.1426G>T (p.Ala476Ser) c.1486G>T (p.Ala496Ser) n.1362G>T c.1408G>T (p.Ala470Ser) c.1678G>T (p.Ala560Ser) c.1687G>T (p.Ala563Ser) c.1033G>T (p.Ala345Ser) c.1477G>T (p.Ala493Ser) | dbSNP gnomAD v4 |
9 | g.135769980C>A | CA375505903 | KCNT1 | c.1544C>A (p.Ala515Asp) c.1385C>A (p.Ala462Asp) c.1292C>A (p.Ala431Asp) c.1301C>A (p.Ala434Asp) c.1445C>A (p.Ala482Asp) c.*1154C>A (n.*1154C>A) c.1427C>A (p.Ala476Asp) c.1487C>A (p.Ala496Asp) n.1363C>A c.1409C>A (p.Ala470Asp) c.1679C>A (p.Ala560Asp) c.1688C>A (p.Ala563Asp) c.1034C>A (p.Ala345Asp) c.1478C>A (p.Ala493Asp) | gnomAD v4 |
9 | g.135769980C>G | CA375505904 | KCNT1 | c.1544C>G (p.Ala515Gly) c.1385C>G (p.Ala462Gly) c.1292C>G (p.Ala431Gly) c.1301C>G (p.Ala434Gly) c.1445C>G (p.Ala482Gly) c.*1154C>G (n.*1154C>G) c.1427C>G (p.Ala476Gly) c.1487C>G (p.Ala496Gly) n.1363C>G c.1409C>G (p.Ala470Gly) c.1679C>G (p.Ala560Gly) c.1688C>G (p.Ala563Gly) c.1034C>G (p.Ala345Gly) c.1478C>G (p.Ala493Gly) | |
9 | g.135769980C>T | CA375505905 | KCNT1 | c.1544C>T (p.Ala515Val) c.1385C>T (p.Ala462Val) c.1292C>T (p.Ala431Val) c.1301C>T (p.Ala434Val) c.1445C>T (p.Ala482Val) c.*1154C>T (n.*1154C>T) c.1427C>T (p.Ala476Val) c.1487C>T (p.Ala496Val) n.1363C>T c.1409C>T (p.Ala470Val) c.1679C>T (p.Ala560Val) c.1688C>T (p.Ala563Val) c.1034C>T (p.Ala345Val) c.1478C>T (p.Ala493Val) | gnomAD v4 |
9 | g.135769981C>A | CA467698386 | KCNT1 | c.1545C>A (p.Ala515=) c.1386C>A (p.Ala462=) c.1293C>A (p.Ala431=) c.1302C>A (p.Ala434=) c.1446C>A (p.Ala482=) c.*1155C>A (n.*1155C>A) c.1428C>A (p.Ala476=) c.1488C>A (p.Ala496=) n.1364C>A c.1410C>A (p.Ala470=) c.1680C>A (p.Ala560=) c.1689C>A (p.Ala563=) c.1035C>A (p.Ala345=) c.1479C>A (p.Ala493=) | gnomAD v4 |
9 | g.135769981C= | CA1883872452 | KCNT1 | c.1545C= (p.Ala515=) c.1386C= (p.Ala462=) c.1293C= (p.Ala431=) c.1302C= (p.Ala434=) c.1446C= (p.Ala482=) c.*1155C= (n.*1155C=) c.1428C= (p.Ala476=) c.1488C= (p.Ala496=) n.1364C= c.1410C= (p.Ala470=) c.1680C= (p.Ala560=) c.1689C= (p.Ala563=) c.1035C= (p.Ala345=) c.1479C= (p.Ala493=) | |
9 | g.135769981C>G | CA467698387 | KCNT1 | c.1545C>G (p.Ala515=) c.1386C>G (p.Ala462=) c.1293C>G (p.Ala431=) c.1302C>G (p.Ala434=) c.1446C>G (p.Ala482=) c.*1155C>G (n.*1155C>G) c.1428C>G (p.Ala476=) c.1488C>G (p.Ala496=) n.1364C>G c.1410C>G (p.Ala470=) c.1680C>G (p.Ala560=) c.1689C>G (p.Ala563=) c.1035C>G (p.Ala345=) c.1479C>G (p.Ala493=) | |
9 | g.135769981C>T | CA5326962 | KCNT1 | c.1545C>T (p.Ala515=) c.1386C>T (p.Ala462=) c.1293C>T (p.Ala431=) c.1302C>T (p.Ala434=) c.1446C>T (p.Ala482=) c.*1155C>T (n.*1155C>T) c.1428C>T (p.Ala476=) c.1488C>T (p.Ala496=) n.1364C>T c.1410C>T (p.Ala470=) c.1680C>T (p.Ala560=) c.1689C>T (p.Ala563=) c.1035C>T (p.Ala345=) c.1479C>T (p.Ala493=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135769982A= | CA1883872461 | KCNT1 | c.1546A= (p.Met516=) c.1387A= (p.Met463=) c.1294A= (p.Met432=) c.1303A= (p.Met435=) c.1447A= (p.Met483=) c.*1156A= (n.*1156A=) c.1429A= (p.Met477=) c.1489A= (p.Met497=) n.1365A= c.1411A= (p.Met471=) c.1681A= (p.Met561=) c.1690A= (p.Met564=) c.1036A= (p.Met346=) c.1480A= (p.Met494=) | |
9 | g.135769982A>C | CA375505907 | KCNT1 | c.1546A>C (p.Met516Leu) c.1387A>C (p.Met463Leu) c.1294A>C (p.Met432Leu) c.1303A>C (p.Met435Leu) c.1447A>C (p.Met483Leu) c.*1156A>C (n.*1156A>C) c.1429A>C (p.Met477Leu) c.1489A>C (p.Met497Leu) n.1365A>C c.1411A>C (p.Met471Leu) c.1681A>C (p.Met561Leu) c.1690A>C (p.Met564Leu) c.1036A>C (p.Met346Leu) c.1480A>C (p.Met494Leu) | |
9 | g.135769982A>G | CA10603124 | KCNT1 | c.1546A>G (p.Met516Val) c.1387A>G (p.Met463Val) c.1294A>G (p.Met432Val) c.1303A>G (p.Met435Val) c.1447A>G (p.Met483Val) c.*1156A>G (n.*1156A>G) c.1429A>G (p.Met477Val) c.1489A>G (p.Met497Val) n.1365A>G c.1411A>G (p.Met471Val) c.1681A>G (p.Met561Val) c.1690A>G (p.Met564Val) c.1036A>G (p.Met346Val) c.1480A>G (p.Met494Val) | ClinVar dbSNP gnomAD v4 |
9 | g.135769982A>T | CA375505906 | KCNT1 | c.1546A>T (p.Met516Leu) c.1387A>T (p.Met463Leu) c.1294A>T (p.Met432Leu) c.1303A>T (p.Met435Leu) c.1447A>T (p.Met483Leu) c.*1156A>T (n.*1156A>T) c.1429A>T (p.Met477Leu) c.1489A>T (p.Met497Leu) n.1365A>T c.1411A>T (p.Met471Leu) c.1681A>T (p.Met561Leu) c.1690A>T (p.Met564Leu) c.1036A>T (p.Met346Leu) c.1480A>T (p.Met494Leu) | gnomAD v4 |
9 | g.135769983T>A | CA375505908 | KCNT1 | c.1547T>A (p.Met516Lys) c.1388T>A (p.Met463Lys) c.1295T>A (p.Met432Lys) c.1304T>A (p.Met435Lys) c.1448T>A (p.Met483Lys) c.*1157T>A (n.*1157T>A) c.1430T>A (p.Met477Lys) c.1490T>A (p.Met497Lys) n.1366T>A c.1412T>A (p.Met471Lys) c.1682T>A (p.Met561Lys) c.1691T>A (p.Met564Lys) c.1037T>A (p.Met346Lys) c.1481T>A (p.Met494Lys) | |
9 | g.135769983T>C | CA375505909 | KCNT1 | c.1547T>C (p.Met516Thr) c.1388T>C (p.Met463Thr) c.1295T>C (p.Met432Thr) c.1304T>C (p.Met435Thr) c.1448T>C (p.Met483Thr) c.*1157T>C (n.*1157T>C) c.1430T>C (p.Met477Thr) c.1490T>C (p.Met497Thr) n.1366T>C c.1412T>C (p.Met471Thr) c.1682T>C (p.Met561Thr) c.1691T>C (p.Met564Thr) c.1037T>C (p.Met346Thr) c.1481T>C (p.Met494Thr) | |
9 | g.135769983T>G | CA375505910 | KCNT1 | c.1547T>G (p.Met516Arg) c.1388T>G (p.Met463Arg) c.1295T>G (p.Met432Arg) c.1304T>G (p.Met435Arg) c.1448T>G (p.Met483Arg) c.*1157T>G (n.*1157T>G) c.1430T>G (p.Met477Arg) c.1490T>G (p.Met497Arg) n.1366T>G c.1412T>G (p.Met471Arg) c.1682T>G (p.Met561Arg) c.1691T>G (p.Met564Arg) c.1037T>G (p.Met346Arg) c.1481T>G (p.Met494Arg) | |
9 | g.135769984G>A | CA375505911 | KCNT1 | c.1548G>A (p.Met516Ile) c.1389G>A (p.Met463Ile) c.1296G>A (p.Met432Ile) c.1305G>A (p.Met435Ile) c.1449G>A (p.Met483Ile) c.*1158G>A (n.*1158G>A) c.1431G>A (p.Met477Ile) c.1491G>A (p.Met497Ile) n.1367G>A c.1413G>A (p.Met471Ile) c.1683G>A (p.Met561Ile) c.1692G>A (p.Met564Ile) c.1038G>A (p.Met346Ile) c.1482G>A (p.Met494Ile) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135769984G>C | CA375505912 | KCNT1 | c.1548G>C (p.Met516Ile) c.1389G>C (p.Met463Ile) c.1296G>C (p.Met432Ile) c.1305G>C (p.Met435Ile) c.1449G>C (p.Met483Ile) c.*1158G>C (n.*1158G>C) c.1431G>C (p.Met477Ile) c.1491G>C (p.Met497Ile) n.1367G>C c.1413G>C (p.Met471Ile) c.1683G>C (p.Met561Ile) c.1692G>C (p.Met564Ile) c.1038G>C (p.Met346Ile) c.1482G>C (p.Met494Ile) | |
9 | g.135769984G= | CA1883872469 | KCNT1 | c.1548G= (p.Met516=) c.1389G= (p.Met463=) c.1296G= (p.Met432=) c.1305G= (p.Met435=) c.1449G= (p.Met483=) c.*1158G= (n.*1158G=) c.1431G= (p.Met477=) c.1491G= (p.Met497=) n.1367G= c.1413G= (p.Met471=) c.1683G= (p.Met561=) c.1692G= (p.Met564=) c.1038G= (p.Met346=) c.1482G= (p.Met494=) | |
9 | g.135769984G>T | CA375505913 | KCNT1 | c.1548G>T (p.Met516Ile) c.1389G>T (p.Met463Ile) c.1296G>T (p.Met432Ile) c.1305G>T (p.Met435Ile) c.1449G>T (p.Met483Ile) c.*1158G>T (n.*1158G>T) c.1431G>T (p.Met477Ile) c.1491G>T (p.Met497Ile) n.1367G>T c.1413G>T (p.Met471Ile) c.1683G>T (p.Met561Ile) c.1692G>T (p.Met564Ile) c.1038G>T (p.Met346Ile) c.1482G>T (p.Met494Ile) | gnomAD v4 |
9 | g.135769985C>A | CA375505915 | KCNT1 | c.1549C>A (p.Leu517Met) c.1390C>A (p.Leu464Met) c.1297C>A (p.Leu433Met) c.1306C>A (p.Leu436Met) c.1450C>A (p.Leu484Met) c.*1159C>A (n.*1159C>A) c.1432C>A (p.Leu478Met) c.1492C>A (p.Leu498Met) n.1368C>A c.1414C>A (p.Leu472Met) c.1684C>A (p.Leu562Met) c.1693C>A (p.Leu565Met) c.1039C>A (p.Leu347Met) c.1483C>A (p.Leu495Met) | gnomAD v4 |
9 | g.135769985C= | CA1883872473 | KCNT1 | c.1549C= (p.Leu517=) c.1390C= (p.Leu464=) c.1297C= (p.Leu433=) c.1306C= (p.Leu436=) c.1450C= (p.Leu484=) c.*1159C= (n.*1159C=) c.1432C= (p.Leu478=) c.1492C= (p.Leu498=) n.1368C= c.1414C= (p.Leu472=) c.1684C= (p.Leu562=) c.1693C= (p.Leu565=) c.1039C= (p.Leu347=) c.1483C= (p.Leu495=) | |
9 | g.135769985C>G | CA375505914 | KCNT1 | c.1549C>G (p.Leu517Val) c.1390C>G (p.Leu464Val) c.1297C>G (p.Leu433Val) c.1306C>G (p.Leu436Val) c.1450C>G (p.Leu484Val) c.*1159C>G (n.*1159C>G) c.1432C>G (p.Leu478Val) c.1492C>G (p.Leu498Val) n.1368C>G c.1414C>G (p.Leu472Val) c.1684C>G (p.Leu562Val) c.1693C>G (p.Leu565Val) c.1039C>G (p.Leu347Val) c.1483C>G (p.Leu495Val) | |
9 | g.135769985C>T | CA467698388 | KCNT1 | c.1549C>T (p.Leu517=) c.1390C>T (p.Leu464=) c.1297C>T (p.Leu433=) c.1306C>T (p.Leu436=) c.1450C>T (p.Leu484=) c.*1159C>T (n.*1159C>T) c.1432C>T (p.Leu478=) c.1492C>T (p.Leu498=) n.1368C>T c.1414C>T (p.Leu472=) c.1684C>T (p.Leu562=) c.1693C>T (p.Leu565=) c.1039C>T (p.Leu347=) c.1483C>T (p.Leu495=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135769986T>A | CA375505916 | KCNT1 | c.1550T>A (p.Leu517Gln) c.1391T>A (p.Leu464Gln) c.1298T>A (p.Leu433Gln) c.1307T>A (p.Leu436Gln) c.1451T>A (p.Leu484Gln) c.*1160T>A (n.*1160T>A) c.1433T>A (p.Leu478Gln) c.1493T>A (p.Leu498Gln) n.1369T>A c.1415T>A (p.Leu472Gln) c.1685T>A (p.Leu562Gln) c.1694T>A (p.Leu565Gln) c.1040T>A (p.Leu347Gln) c.1484T>A (p.Leu495Gln) | gnomAD v4 |
9 | g.135769986T>C | CA375505917 | KCNT1 | c.1550T>C (p.Leu517Pro) c.1391T>C (p.Leu464Pro) c.1298T>C (p.Leu433Pro) c.1307T>C (p.Leu436Pro) c.1451T>C (p.Leu484Pro) c.*1160T>C (n.*1160T>C) c.1433T>C (p.Leu478Pro) c.1493T>C (p.Leu498Pro) n.1369T>C c.1415T>C (p.Leu472Pro) c.1685T>C (p.Leu562Pro) c.1694T>C (p.Leu565Pro) c.1040T>C (p.Leu347Pro) c.1484T>C (p.Leu495Pro) | gnomAD v4 |
9 | g.135769986T>G | CA375505918 | KCNT1 | c.1550T>G (p.Leu517Arg) c.1391T>G (p.Leu464Arg) c.1298T>G (p.Leu433Arg) c.1307T>G (p.Leu436Arg) c.1451T>G (p.Leu484Arg) c.*1160T>G (n.*1160T>G) c.1433T>G (p.Leu478Arg) c.1493T>G (p.Leu498Arg) n.1369T>G c.1415T>G (p.Leu472Arg) c.1685T>G (p.Leu562Arg) c.1694T>G (p.Leu565Arg) c.1040T>G (p.Leu347Arg) c.1484T>G (p.Leu495Arg) | |
9 | g.135769987G>A | CA467698391 | KCNT1 | c.1551G>A (p.Leu517=) c.1392G>A (p.Leu464=) c.1299G>A (p.Leu433=) c.1308G>A (p.Leu436=) c.1452G>A (p.Leu484=) c.*1161G>A (n.*1161G>A) c.1434G>A (p.Leu478=) c.1494G>A (p.Leu498=) n.1370G>A c.1416G>A (p.Leu472=) c.1686G>A (p.Leu562=) c.1695G>A (p.Leu565=) c.1041G>A (p.Leu347=) c.1485G>A (p.Leu495=) | |
9 | g.135769987G>C | CA467698390 | KCNT1 | c.1551G>C (p.Leu517=) c.1392G>C (p.Leu464=) c.1299G>C (p.Leu433=) c.1308G>C (p.Leu436=) c.1452G>C (p.Leu484=) c.*1161G>C (n.*1161G>C) c.1434G>C (p.Leu478=) c.1494G>C (p.Leu498=) n.1370G>C c.1416G>C (p.Leu472=) c.1686G>C (p.Leu562=) c.1695G>C (p.Leu565=) c.1041G>C (p.Leu347=) c.1485G>C (p.Leu495=) | |
9 | g.135769987G>T | CA467698389 | KCNT1 | c.1551G>T (p.Leu517=) c.1392G>T (p.Leu464=) c.1299G>T (p.Leu433=) c.1308G>T (p.Leu436=) c.1452G>T (p.Leu484=) c.*1161G>T (n.*1161G>T) c.1434G>T (p.Leu478=) c.1494G>T (p.Leu498=) n.1370G>T c.1416G>T (p.Leu472=) c.1686G>T (p.Leu562=) c.1695G>T (p.Leu565=) c.1041G>T (p.Leu347=) c.1485G>T (p.Leu495=) | gnomAD v4 |
9 | g.135769988G>A | CA375505919 | KCNT1 | c.1552G>A (p.Ala518Thr) c.1393G>A (p.Ala465Thr) c.1300G>A (p.Ala434Thr) c.1309G>A (p.Ala437Thr) c.1453G>A (p.Ala485Thr) c.*1162G>A (n.*1162G>A) c.1435G>A (p.Ala479Thr) c.1495G>A (p.Ala499Thr) n.1371G>A c.1417G>A (p.Ala473Thr) c.1687G>A (p.Ala563Thr) c.1696G>A (p.Ala566Thr) c.1042G>A (p.Ala348Thr) c.1486G>A (p.Ala496Thr) | gnomAD v4 |
9 | g.135769988G>C | CA375505920 | KCNT1 | c.1552G>C (p.Ala518Pro) c.1393G>C (p.Ala465Pro) c.1300G>C (p.Ala434Pro) c.1309G>C (p.Ala437Pro) c.1453G>C (p.Ala485Pro) c.*1162G>C (n.*1162G>C) c.1435G>C (p.Ala479Pro) c.1495G>C (p.Ala499Pro) n.1371G>C c.1417G>C (p.Ala473Pro) c.1687G>C (p.Ala563Pro) c.1696G>C (p.Ala566Pro) c.1042G>C (p.Ala348Pro) c.1486G>C (p.Ala496Pro) | |
9 | g.135769988G>T | CA375505921 | KCNT1 | c.1552G>T (p.Ala518Ser) c.1393G>T (p.Ala465Ser) c.1300G>T (p.Ala434Ser) c.1309G>T (p.Ala437Ser) c.1453G>T (p.Ala485Ser) c.*1162G>T (n.*1162G>T) c.1435G>T (p.Ala479Ser) c.1495G>T (p.Ala499Ser) n.1371G>T c.1417G>T (p.Ala473Ser) c.1687G>T (p.Ala563Ser) c.1696G>T (p.Ala566Ser) c.1042G>T (p.Ala348Ser) c.1486G>T (p.Ala496Ser) | gnomAD v4 |
9 | g.135769989C>A | CA201472683 | KCNT1 | c.1553C>A (p.Ala518Glu) c.1394C>A (p.Ala465Glu) c.1301C>A (p.Ala434Glu) c.1310C>A (p.Ala437Glu) c.1454C>A (p.Ala485Glu) c.*1163C>A (n.*1163C>A) c.1436C>A (p.Ala479Glu) c.1496C>A (p.Ala499Glu) n.1372C>A c.1418C>A (p.Ala473Glu) c.1688C>A (p.Ala563Glu) c.1697C>A (p.Ala566Glu) c.1043C>A (p.Ala348Glu) c.1487C>A (p.Ala496Glu) | dbSNP gnomAD v4 |
9 | g.135769989C= | CA1883872478 | KCNT1 | c.1553C= (p.Ala518=) c.1394C= (p.Ala465=) c.1301C= (p.Ala434=) c.1310C= (p.Ala437=) c.1454C= (p.Ala485=) c.*1163C= (n.*1163C=) c.1436C= (p.Ala479=) c.1496C= (p.Ala499=) n.1372C= c.1418C= (p.Ala473=) c.1688C= (p.Ala563=) c.1697C= (p.Ala566=) c.1043C= (p.Ala348=) c.1487C= (p.Ala496=) | |
9 | g.135769989C>G | CA375505922 | KCNT1 | c.1553C>G (p.Ala518Gly) c.1394C>G (p.Ala465Gly) c.1301C>G (p.Ala434Gly) c.1310C>G (p.Ala437Gly) c.1454C>G (p.Ala485Gly) c.*1163C>G (n.*1163C>G) c.1436C>G (p.Ala479Gly) c.1496C>G (p.Ala499Gly) n.1372C>G c.1418C>G (p.Ala473Gly) c.1688C>G (p.Ala563Gly) c.1697C>G (p.Ala566Gly) c.1043C>G (p.Ala348Gly) c.1487C>G (p.Ala496Gly) | |
9 | g.135769989C>T | CA5326963 | KCNT1 | c.1553C>T (p.Ala518Val) c.1394C>T (p.Ala465Val) c.1301C>T (p.Ala434Val) c.1310C>T (p.Ala437Val) c.1454C>T (p.Ala485Val) c.*1163C>T (n.*1163C>T) c.1436C>T (p.Ala479Val) c.1496C>T (p.Ala499Val) n.1372C>T c.1418C>T (p.Ala473Val) c.1688C>T (p.Ala563Val) c.1697C>T (p.Ala566Val) c.1043C>T (p.Ala348Val) c.1487C>T (p.Ala496Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.135769990G>A | CA5326964 | KCNT1 | c.1554G>A (p.Ala518=) c.1395G>A (p.Ala465=) c.1302G>A (p.Ala434=) c.1311G>A (p.Ala437=) c.1455G>A (p.Ala485=) c.*1164G>A (n.*1164G>A) c.1437G>A (p.Ala479=) c.1497G>A (p.Ala499=) n.1373G>A c.1419G>A (p.Ala473=) c.1689G>A (p.Ala563=) c.1698G>A (p.Ala566=) c.1044G>A (p.Ala348=) c.1488G>A (p.Ala496=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.135769990G>C | CA467698392 | KCNT1 | c.1554G>C (p.Ala518=) c.1395G>C (p.Ala465=) c.1302G>C (p.Ala434=) c.1311G>C (p.Ala437=) c.1455G>C (p.Ala485=) c.*1164G>C (n.*1164G>C) c.1437G>C (p.Ala479=) c.1497G>C (p.Ala499=) n.1373G>C c.1419G>C (p.Ala473=) c.1689G>C (p.Ala563=) c.1698G>C (p.Ala566=) c.1044G>C (p.Ala348=) c.1488G>C (p.Ala496=) | |
9 | g.135769990G= | CA1883872484 | KCNT1 | c.1554G= (p.Ala518=) c.1395G= (p.Ala465=) c.1302G= (p.Ala434=) c.1311G= (p.Ala437=) c.1455G= (p.Ala485=) c.*1164G= (n.*1164G=) c.1437G= (p.Ala479=) c.1497G= (p.Ala499=) n.1373G= c.1419G= (p.Ala473=) c.1689G= (p.Ala563=) c.1698G= (p.Ala566=) c.1044G= (p.Ala348=) c.1488G= (p.Ala496=) | |
9 | g.135769990G>T | CA467698393 | KCNT1 | c.1554G>T (p.Ala518=) c.1395G>T (p.Ala465=) c.1302G>T (p.Ala434=) c.1311G>T (p.Ala437=) c.1455G>T (p.Ala485=) c.*1164G>T (n.*1164G>T) c.1437G>T (p.Ala479=) c.1497G>T (p.Ala499=) n.1373G>T c.1419G>T (p.Ala473=) c.1689G>T (p.Ala563=) c.1698G>T (p.Ala566=) c.1044G>T (p.Ala348=) c.1488G>T (p.Ala496=) | gnomAD v4 |
9 | g.135769991C>A | CA375505923 | KCNT1 | c.1555C>A (p.Leu519Met) c.1396C>A (p.Leu466Met) c.1303C>A (p.Leu435Met) c.1312C>A (p.Leu438Met) c.1456C>A (p.Leu486Met) c.*1165C>A (n.*1165C>A) c.1438C>A (p.Leu480Met) c.1498C>A (p.Leu500Met) n.1374C>A c.1420C>A (p.Leu474Met) c.1690C>A (p.Leu564Met) c.1699C>A (p.Leu567Met) c.1045C>A (p.Leu349Met) c.1489C>A (p.Leu497Met) | gnomAD v4 |
9 | g.135769991C>G | CA375505924 | KCNT1 | c.1555C>G (p.Leu519Val) c.1396C>G (p.Leu466Val) c.1303C>G (p.Leu435Val) c.1312C>G (p.Leu438Val) c.1456C>G (p.Leu486Val) c.*1165C>G (n.*1165C>G) c.1438C>G (p.Leu480Val) c.1498C>G (p.Leu500Val) n.1374C>G c.1420C>G (p.Leu474Val) c.1690C>G (p.Leu564Val) c.1699C>G (p.Leu567Val) c.1045C>G (p.Leu349Val) c.1489C>G (p.Leu497Val) | |
9 | g.135769991C>T | CA467698394 | KCNT1 | c.1555C>T (p.Leu519=) c.1396C>T (p.Leu466=) c.1303C>T (p.Leu435=) c.1312C>T (p.Leu438=) c.1456C>T (p.Leu486=) c.*1165C>T (n.*1165C>T) c.1438C>T (p.Leu480=) c.1498C>T (p.Leu500=) n.1374C>T c.1420C>T (p.Leu474=) c.1690C>T (p.Leu564=) c.1699C>T (p.Leu567=) c.1045C>T (p.Leu349=) c.1489C>T (p.Leu497=) | gnomAD v4 |
9 | g.135769992T>A | CA375505925 | KCNT1 | c.1556T>A (p.Leu519Gln) c.1397T>A (p.Leu466Gln) c.1304T>A (p.Leu435Gln) c.1313T>A (p.Leu438Gln) c.1457T>A (p.Leu486Gln) c.*1166T>A (n.*1166T>A) c.1439T>A (p.Leu480Gln) c.1499T>A (p.Leu500Gln) n.1375T>A c.1421T>A (p.Leu474Gln) c.1691T>A (p.Leu564Gln) c.1700T>A (p.Leu567Gln) c.1046T>A (p.Leu349Gln) c.1490T>A (p.Leu497Gln) | |
9 | g.135769992T>C | CA375505926 | KCNT1 | c.1556T>C (p.Leu519Pro) c.1397T>C (p.Leu466Pro) c.1304T>C (p.Leu435Pro) c.1313T>C (p.Leu438Pro) c.1457T>C (p.Leu486Pro) c.*1166T>C (n.*1166T>C) c.1439T>C (p.Leu480Pro) c.1499T>C (p.Leu500Pro) n.1375T>C c.1421T>C (p.Leu474Pro) c.1691T>C (p.Leu564Pro) c.1700T>C (p.Leu567Pro) c.1046T>C (p.Leu349Pro) c.1490T>C (p.Leu497Pro) | gnomAD v4 |
9 | g.135769992T>G | CA375505927 | KCNT1 | c.1556T>G (p.Leu519Arg) c.1397T>G (p.Leu466Arg) c.1304T>G (p.Leu435Arg) c.1313T>G (p.Leu438Arg) c.1457T>G (p.Leu486Arg) c.*1166T>G (n.*1166T>G) c.1439T>G (p.Leu480Arg) c.1499T>G (p.Leu500Arg) n.1375T>G c.1421T>G (p.Leu474Arg) c.1691T>G (p.Leu564Arg) c.1700T>G (p.Leu567Arg) c.1046T>G (p.Leu349Arg) c.1490T>G (p.Leu497Arg) | |
9 | g.135769993G>A | CA467698395 | KCNT1 | c.1557G>A (p.Leu519=) c.1398G>A (p.Leu466=) c.1305G>A (p.Leu435=) c.1314G>A (p.Leu438=) c.1458G>A (p.Leu486=) c.*1167G>A (n.*1167G>A) c.1440G>A (p.Leu480=) c.1500G>A (p.Leu500=) n.1376G>A c.1422G>A (p.Leu474=) c.1692G>A (p.Leu564=) c.1701G>A (p.Leu567=) c.1047G>A (p.Leu349=) c.1491G>A (p.Leu497=) | gnomAD v4 |
9 | g.135769993G>C | CA467698396 | KCNT1 | c.1557G>C (p.Leu519=) c.1398G>C (p.Leu466=) c.1305G>C (p.Leu435=) c.1314G>C (p.Leu438=) c.1458G>C (p.Leu486=) c.*1167G>C (n.*1167G>C) c.1440G>C (p.Leu480=) c.1500G>C (p.Leu500=) n.1376G>C c.1422G>C (p.Leu474=) c.1692G>C (p.Leu564=) c.1701G>C (p.Leu567=) c.1047G>C (p.Leu349=) c.1491G>C (p.Leu497=) | gnomAD v4 |
9 | g.135769993G>T | CA467698397 | KCNT1 | c.1557G>T (p.Leu519=) c.1398G>T (p.Leu466=) c.1305G>T (p.Leu435=) c.1314G>T (p.Leu438=) c.1458G>T (p.Leu486=) c.*1167G>T (n.*1167G>T) c.1440G>T (p.Leu480=) c.1500G>T (p.Leu500=) n.1376G>T c.1422G>T (p.Leu474=) c.1692G>T (p.Leu564=) c.1701G>T (p.Leu567=) c.1047G>T (p.Leu349=) c.1491G>T (p.Leu497=) | gnomAD v4 |
9 | g.135769994A>C | CA375505928 | KCNT1 | c.1558A>C (p.Asn520His) c.1399A>C (p.Asn467His) c.1306A>C (p.Asn436His) c.1315A>C (p.Asn439His) c.1459A>C (p.Asn487His) c.*1168A>C (n.*1168A>C) c.1441A>C (p.Asn481His) c.1501A>C (p.Asn501His) n.1377A>C c.1423A>C (p.Asn475His) c.1693A>C (p.Asn565His) c.1702A>C (p.Asn568His) c.1048A>C (p.Asn350His) c.1492A>C (p.Asn498His) | |
9 | g.135769994A>G | CA375505929 | KCNT1 | c.1558A>G (p.Asn520Asp) c.1399A>G (p.Asn467Asp) c.1306A>G (p.Asn436Asp) c.1315A>G (p.Asn439Asp) c.1459A>G (p.Asn487Asp) c.*1168A>G (n.*1168A>G) c.1441A>G (p.Asn481Asp) c.1501A>G (p.Asn501Asp) n.1377A>G c.1423A>G (p.Asn475Asp) c.1693A>G (p.Asn565Asp) c.1702A>G (p.Asn568Asp) c.1048A>G (p.Asn350Asp) c.1492A>G (p.Asn498Asp) | |
9 | g.135769994A>T | CA375505930 | KCNT1 | c.1558A>T (p.Asn520Tyr) c.1399A>T (p.Asn467Tyr) c.1306A>T (p.Asn436Tyr) c.1315A>T (p.Asn439Tyr) c.1459A>T (p.Asn487Tyr) c.*1168A>T (n.*1168A>T) c.1441A>T (p.Asn481Tyr) c.1501A>T (p.Asn501Tyr) n.1377A>T c.1423A>T (p.Asn475Tyr) c.1693A>T (p.Asn565Tyr) c.1702A>T (p.Asn568Tyr) c.1048A>T (p.Asn350Tyr) c.1492A>T (p.Asn498Tyr) | |
9 | g.135769995A>C | CA375505931 | KCNT1 | c.1559A>C (p.Asn520Thr) c.1400A>C (p.Asn467Thr) c.1307A>C (p.Asn436Thr) c.1316A>C (p.Asn439Thr) c.1460A>C (p.Asn487Thr) c.*1169A>C (n.*1169A>C) c.1442A>C (p.Asn481Thr) c.1502A>C (p.Asn501Thr) n.1378A>C c.1424A>C (p.Asn475Thr) c.1694A>C (p.Asn565Thr) c.1703A>C (p.Asn568Thr) c.1049A>C (p.Asn350Thr) c.1493A>C (p.Asn498Thr) | |
9 | g.135769995A>G | CA375505932 | KCNT1 | c.1559A>G (p.Asn520Ser) c.1400A>G (p.Asn467Ser) c.1307A>G (p.Asn436Ser) c.1316A>G (p.Asn439Ser) c.1460A>G (p.Asn487Ser) c.*1169A>G (n.*1169A>G) c.1442A>G (p.Asn481Ser) c.1502A>G (p.Asn501Ser) n.1378A>G c.1424A>G (p.Asn475Ser) c.1694A>G (p.Asn565Ser) c.1703A>G (p.Asn568Ser) c.1049A>G (p.Asn350Ser) c.1493A>G (p.Asn498Ser) | |
9 | g.135769995A>T | CA375505933 | KCNT1 | c.1559A>T (p.Asn520Ile) c.1400A>T (p.Asn467Ile) c.1307A>T (p.Asn436Ile) c.1316A>T (p.Asn439Ile) c.1460A>T (p.Asn487Ile) c.*1169A>T (n.*1169A>T) c.1442A>T (p.Asn481Ile) c.1502A>T (p.Asn501Ile) n.1378A>T c.1424A>T (p.Asn475Ile) c.1694A>T (p.Asn565Ile) c.1703A>T (p.Asn568Ile) c.1049A>T (p.Asn350Ile) c.1493A>T (p.Asn498Ile) | |
9 | g.135769996C>A | CA375505934 | KCNT1 | c.1560C>A (p.Asn520Lys) c.1401C>A (p.Asn467Lys) c.1308C>A (p.Asn436Lys) c.1317C>A (p.Asn439Lys) c.1461C>A (p.Asn487Lys) c.*1170C>A (n.*1170C>A) c.1443C>A (p.Asn481Lys) c.1503C>A (p.Asn501Lys) n.1379C>A c.1425C>A (p.Asn475Lys) c.1695C>A (p.Asn565Lys) c.1704C>A (p.Asn568Lys) c.1050C>A (p.Asn350Lys) c.1494C>A (p.Asn498Lys) | gnomAD v4 |
9 | g.135769996C>G | CA375505935 | KCNT1 | c.1560C>G (p.Asn520Lys) c.1401C>G (p.Asn467Lys) c.1308C>G (p.Asn436Lys) c.1317C>G (p.Asn439Lys) c.1461C>G (p.Asn487Lys) c.*1170C>G (n.*1170C>G) c.1443C>G (p.Asn481Lys) c.1503C>G (p.Asn501Lys) n.1379C>G c.1425C>G (p.Asn475Lys) c.1695C>G (p.Asn565Lys) c.1704C>G (p.Asn568Lys) c.1050C>G (p.Asn350Lys) c.1494C>G (p.Asn498Lys) | gnomAD v4 |
9 | g.135769996C>T | CA467698398 | KCNT1 | c.1560C>T (p.Asn520=) c.1401C>T (p.Asn467=) c.1308C>T (p.Asn436=) c.1317C>T (p.Asn439=) c.1461C>T (p.Asn487=) c.*1170C>T (n.*1170C>T) c.1443C>T (p.Asn481=) c.1503C>T (p.Asn501=) n.1379C>T c.1425C>T (p.Asn475=) c.1695C>T (p.Asn565=) c.1704C>T (p.Asn568=) c.1050C>T (p.Asn350=) c.1494C>T (p.Asn498=) | gnomAD v4 |
9 | g.135769997T>A | CA375505936 | KCNT1 | c.1561T>A (p.Cys521Ser) c.1402T>A (p.Cys468Ser) c.1309T>A (p.Cys437Ser) c.1318T>A (p.Cys440Ser) c.1462T>A (p.Cys488Ser) c.*1171T>A (n.*1171T>A) c.1444T>A (p.Cys482Ser) c.1504T>A (p.Cys502Ser) n.1380T>A c.1426T>A (p.Cys476Ser) c.1696T>A (p.Cys566Ser) c.1705T>A (p.Cys569Ser) c.1051T>A (p.Cys351Ser) c.1495T>A (p.Cys499Ser) | |
9 | g.135769997T>C | CA375505937 | KCNT1 | c.1561T>C (p.Cys521Arg) c.1402T>C (p.Cys468Arg) c.1309T>C (p.Cys437Arg) c.1318T>C (p.Cys440Arg) c.1462T>C (p.Cys488Arg) c.*1171T>C (n.*1171T>C) c.1444T>C (p.Cys482Arg) c.1504T>C (p.Cys502Arg) n.1380T>C c.1426T>C (p.Cys476Arg) c.1696T>C (p.Cys566Arg) c.1705T>C (p.Cys569Arg) c.1051T>C (p.Cys351Arg) c.1495T>C (p.Cys499Arg) | gnomAD v4 |
9 | g.135769997T>G | CA375505938 | KCNT1 | c.1561T>G (p.Cys521Gly) c.1402T>G (p.Cys468Gly) c.1309T>G (p.Cys437Gly) c.1318T>G (p.Cys440Gly) c.1462T>G (p.Cys488Gly) c.*1171T>G (n.*1171T>G) c.1444T>G (p.Cys482Gly) c.1504T>G (p.Cys502Gly) n.1380T>G c.1426T>G (p.Cys476Gly) c.1696T>G (p.Cys566Gly) c.1705T>G (p.Cys569Gly) c.1051T>G (p.Cys351Gly) c.1495T>G (p.Cys499Gly) | |
9 | g.135769998G>A | CA375505939 | KCNT1 | c.1562G>A (p.Cys521Tyr) c.1403G>A (p.Cys468Tyr) c.1310G>A (p.Cys437Tyr) c.1319G>A (p.Cys440Tyr) c.1463G>A (p.Cys488Tyr) c.*1172G>A (n.*1172G>A) c.1445G>A (p.Cys482Tyr) c.1505G>A (p.Cys502Tyr) n.1381G>A c.1427G>A (p.Cys476Tyr) c.1697G>A (p.Cys566Tyr) c.1706G>A (p.Cys569Tyr) c.1052G>A (p.Cys351Tyr) c.1496G>A (p.Cys499Tyr) | gnomAD v4 |
9 | g.135769998G>C | CA375505940 | KCNT1 | c.1562G>C (p.Cys521Ser) c.1403G>C (p.Cys468Ser) c.1310G>C (p.Cys437Ser) c.1319G>C (p.Cys440Ser) c.1463G>C (p.Cys488Ser) c.*1172G>C (n.*1172G>C) c.1445G>C (p.Cys482Ser) c.1505G>C (p.Cys502Ser) n.1381G>C c.1427G>C (p.Cys476Ser) c.1697G>C (p.Cys566Ser) c.1706G>C (p.Cys569Ser) c.1052G>C (p.Cys351Ser) c.1496G>C (p.Cys499Ser) | |
9 | g.135769998G>T | CA375505941 | KCNT1 | c.1562G>T (p.Cys521Phe) c.1403G>T (p.Cys468Phe) c.1310G>T (p.Cys437Phe) c.1319G>T (p.Cys440Phe) c.1463G>T (p.Cys488Phe) c.*1172G>T (n.*1172G>T) c.1445G>T (p.Cys482Phe) c.1505G>T (p.Cys502Phe) n.1381G>T c.1427G>T (p.Cys476Phe) c.1697G>T (p.Cys566Phe) c.1706G>T (p.Cys569Phe) c.1052G>T (p.Cys351Phe) c.1496G>T (p.Cys499Phe) | gnomAD v4 |
9 | g.135769999C>A | CA375505943 | KCNT1 | c.1563C>A (p.Cys521Ter) c.1404C>A (p.Cys468Ter) c.1311C>A (p.Cys437Ter) c.1320C>A (p.Cys440Ter) c.1464C>A (p.Cys488Ter) c.*1173C>A (n.*1173C>A) c.1446C>A (p.Cys482Ter) c.1506C>A (p.Cys502Ter) n.1382C>A c.1428C>A (p.Cys476Ter) c.1698C>A (p.Cys566Ter) c.1707C>A (p.Cys569Ter) c.1053C>A (p.Cys351Ter) c.1497C>A (p.Cys499Ter) | gnomAD v4 |
9 | g.135769999C= | CA1883872492 | KCNT1 | c.1563C= (p.Cys521=) c.1404C= (p.Cys468=) c.1311C= (p.Cys437=) c.1320C= (p.Cys440=) c.1464C= (p.Cys488=) c.*1173C= (n.*1173C=) c.1446C= (p.Cys482=) c.1506C= (p.Cys502=) n.1382C= c.1428C= (p.Cys476=) c.1698C= (p.Cys566=) c.1707C= (p.Cys569=) c.1053C= (p.Cys351=) c.1497C= (p.Cys499=) | |
9 | g.135769999C>G | CA375505942 | KCNT1 | c.1563C>G (p.Cys521Trp) c.1404C>G (p.Cys468Trp) c.1311C>G (p.Cys437Trp) c.1320C>G (p.Cys440Trp) c.1464C>G (p.Cys488Trp) c.*1173C>G (n.*1173C>G) c.1446C>G (p.Cys482Trp) c.1506C>G (p.Cys502Trp) n.1382C>G c.1428C>G (p.Cys476Trp) c.1698C>G (p.Cys566Trp) c.1707C>G (p.Cys569Trp) c.1053C>G (p.Cys351Trp) c.1497C>G (p.Cys499Trp) | |
9 | g.135769999C>T | CA5326965 | KCNT1 | c.1563C>T (p.Cys521=) c.1404C>T (p.Cys468=) c.1311C>T (p.Cys437=) c.1320C>T (p.Cys440=) c.1464C>T (p.Cys488=) c.*1173C>T (n.*1173C>T) c.1446C>T (p.Cys482=) c.1506C>T (p.Cys502=) n.1382C>T c.1428C>T (p.Cys476=) c.1698C>T (p.Cys566=) c.1707C>T (p.Cys569=) c.1053C>T (p.Cys351=) c.1497C>T (p.Cys499=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135770000A>C | CA375505944 | KCNT1 | c.1564A>C (p.Ile522Leu) c.1405A>C (p.Ile469Leu) c.1312A>C (p.Ile438Leu) c.1321A>C (p.Ile441Leu) c.1465A>C (p.Ile489Leu) c.*1174A>C (n.*1174A>C) c.1447A>C (p.Ile483Leu) c.1507A>C (p.Ile503Leu) n.1383A>C c.1429A>C (p.Ile477Leu) c.1699A>C (p.Ile567Leu) c.1708A>C (p.Ile570Leu) c.1054A>C (p.Ile352Leu) c.1498A>C (p.Ile500Leu) | |
9 | g.135770000A>G | CA375505945 | KCNT1 | c.1564A>G (p.Ile522Val) c.1405A>G (p.Ile469Val) c.1312A>G (p.Ile438Val) c.1321A>G (p.Ile441Val) c.1465A>G (p.Ile489Val) c.*1174A>G (n.*1174A>G) c.1447A>G (p.Ile483Val) c.1507A>G (p.Ile503Val) n.1383A>G c.1429A>G (p.Ile477Val) c.1699A>G (p.Ile567Val) c.1708A>G (p.Ile570Val) c.1054A>G (p.Ile352Val) c.1498A>G (p.Ile500Val) | gnomAD v4 |
9 | g.135770000A>T | CA375505946 | KCNT1 | c.1564A>T (p.Ile522Phe) c.1405A>T (p.Ile469Phe) c.1312A>T (p.Ile438Phe) c.1321A>T (p.Ile441Phe) c.1465A>T (p.Ile489Phe) c.*1174A>T (n.*1174A>T) c.1447A>T (p.Ile483Phe) c.1507A>T (p.Ile503Phe) n.1383A>T c.1429A>T (p.Ile477Phe) c.1699A>T (p.Ile567Phe) c.1708A>T (p.Ile570Phe) c.1054A>T (p.Ile352Phe) c.1498A>T (p.Ile500Phe) | |
9 | g.135770001T>A | CA375505947 | KCNT1 | c.1565T>A (p.Ile522Asn) c.1406T>A (p.Ile469Asn) c.1313T>A (p.Ile438Asn) c.1322T>A (p.Ile441Asn) c.1466T>A (p.Ile489Asn) c.*1175T>A (n.*1175T>A) c.1448T>A (p.Ile483Asn) c.1508T>A (p.Ile503Asn) n.1384T>A c.1430T>A (p.Ile477Asn) c.1700T>A (p.Ile567Asn) c.1709T>A (p.Ile570Asn) c.1055T>A (p.Ile352Asn) c.1499T>A (p.Ile500Asn) | |
9 | g.135770001T>C | CA375505948 | KCNT1 | c.1565T>C (p.Ile522Thr) c.1406T>C (p.Ile469Thr) c.1313T>C (p.Ile438Thr) c.1322T>C (p.Ile441Thr) c.1466T>C (p.Ile489Thr) c.*1175T>C (n.*1175T>C) c.1448T>C (p.Ile483Thr) c.1508T>C (p.Ile503Thr) n.1384T>C c.1430T>C (p.Ile477Thr) c.1700T>C (p.Ile567Thr) c.1709T>C (p.Ile570Thr) c.1055T>C (p.Ile352Thr) c.1499T>C (p.Ile500Thr) | |
9 | g.135770001T>G | CA375505949 | KCNT1 | c.1565T>G (p.Ile522Ser) c.1406T>G (p.Ile469Ser) c.1313T>G (p.Ile438Ser) c.1322T>G (p.Ile441Ser) c.1466T>G (p.Ile489Ser) c.*1175T>G (n.*1175T>G) c.1448T>G (p.Ile483Ser) c.1508T>G (p.Ile503Ser) n.1384T>G c.1430T>G (p.Ile477Ser) c.1700T>G (p.Ile567Ser) c.1709T>G (p.Ile570Ser) c.1055T>G (p.Ile352Ser) c.1499T>G (p.Ile500Ser) | |
9 | g.135770002C>A | CA467698400 | KCNT1 | c.1566C>A (p.Ile522=) c.1407C>A (p.Ile469=) c.1314C>A (p.Ile438=) c.1323C>A (p.Ile441=) c.1467C>A (p.Ile489=) c.*1176C>A (n.*1176C>A) c.1449C>A (p.Ile483=) c.1509C>A (p.Ile503=) n.1385C>A c.1431C>A (p.Ile477=) c.1701C>A (p.Ile567=) c.1710C>A (p.Ile570=) c.1056C>A (p.Ile352=) c.1500C>A (p.Ile500=) | gnomAD v4 |
9 | g.135770002C= | CA1883872501 | KCNT1 | c.1566C= (p.Ile522=) c.1407C= (p.Ile469=) c.1314C= (p.Ile438=) c.1323C= (p.Ile441=) c.1467C= (p.Ile489=) c.*1176C= (n.*1176C=) c.1449C= (p.Ile483=) c.1509C= (p.Ile503=) n.1385C= c.1431C= (p.Ile477=) c.1701C= (p.Ile567=) c.1710C= (p.Ile570=) c.1056C= (p.Ile352=) c.1500C= (p.Ile500=) | |
9 | g.135770002C>G | CA375505950 | KCNT1 | c.1566C>G (p.Ile522Met) c.1407C>G (p.Ile469Met) c.1314C>G (p.Ile438Met) c.1323C>G (p.Ile441Met) c.1467C>G (p.Ile489Met) c.*1176C>G (n.*1176C>G) c.1449C>G (p.Ile483Met) c.1509C>G (p.Ile503Met) n.1385C>G c.1431C>G (p.Ile477Met) c.1701C>G (p.Ile567Met) c.1710C>G (p.Ile570Met) c.1056C>G (p.Ile352Met) c.1500C>G (p.Ile500Met) | |
9 | g.135770002C>T | CA467698399 | KCNT1 | c.1566C>T (p.Ile522=) c.1407C>T (p.Ile469=) c.1314C>T (p.Ile438=) c.1323C>T (p.Ile441=) c.1467C>T (p.Ile489=) c.*1176C>T (n.*1176C>T) c.1449C>T (p.Ile483=) c.1509C>T (p.Ile503=) n.1385C>T c.1431C>T (p.Ile477=) c.1701C>T (p.Ile567=) c.1710C>T (p.Ile570=) c.1056C>T (p.Ile352=) c.1500C>T (p.Ile500=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.135770003T>A | CA375505951 | KCNT1 | c.1567T>A (p.Cys523Ser) c.1408T>A (p.Cys470Ser) c.1315T>A (p.Cys439Ser) c.1324T>A (p.Cys442Ser) c.1468T>A (p.Cys490Ser) c.*1177T>A (n.*1177T>A) c.1450T>A (p.Cys484Ser) c.1510T>A (p.Cys504Ser) n.1386T>A c.1432T>A (p.Cys478Ser) c.1702T>A (p.Cys568Ser) c.1711T>A (p.Cys571Ser) c.1057T>A (p.Cys353Ser) c.1501T>A (p.Cys501Ser) | |
9 | g.135770003T>C | CA375505953 | KCNT1 | c.1567T>C (p.Cys523Arg) c.1408T>C (p.Cys470Arg) c.1315T>C (p.Cys439Arg) c.1324T>C (p.Cys442Arg) c.1468T>C (p.Cys490Arg) c.*1177T>C (n.*1177T>C) c.1450T>C (p.Cys484Arg) c.1510T>C (p.Cys504Arg) n.1386T>C c.1432T>C (p.Cys478Arg) c.1702T>C (p.Cys568Arg) c.1711T>C (p.Cys571Arg) c.1057T>C (p.Cys353Arg) c.1501T>C (p.Cys501Arg) | gnomAD v4 |
9 | g.135770003T>G | CA375505952 | KCNT1 | c.1567T>G (p.Cys523Gly) c.1408T>G (p.Cys470Gly) c.1315T>G (p.Cys439Gly) c.1324T>G (p.Cys442Gly) c.1468T>G (p.Cys490Gly) c.*1177T>G (n.*1177T>G) c.1450T>G (p.Cys484Gly) c.1510T>G (p.Cys504Gly) n.1386T>G c.1432T>G (p.Cys478Gly) c.1702T>G (p.Cys568Gly) c.1711T>G (p.Cys571Gly) c.1057T>G (p.Cys353Gly) c.1501T>G (p.Cys501Gly) | gnomAD v4 |
9 | g.135770003T= | CA1883872504 | KCNT1 | c.1567T= (p.Cys523=) c.1408T= (p.Cys470=) c.1315T= (p.Cys439=) c.1324T= (p.Cys442=) c.1468T= (p.Cys490=) c.*1177T= (n.*1177T=) c.1450T= (p.Cys484=) c.1510T= (p.Cys504=) n.1386T= c.1432T= (p.Cys478=) c.1702T= (p.Cys568=) c.1711T= (p.Cys571=) c.1057T= (p.Cys353=) c.1501T= (p.Cys501=) | |
9 | g.135770004G>A | CA375505954 | KCNT1 | c.1568G>A (p.Cys523Tyr) c.1409G>A (p.Cys470Tyr) c.1316G>A (p.Cys439Tyr) c.1325G>A (p.Cys442Tyr) c.1469G>A (p.Cys490Tyr) c.*1178G>A (n.*1178G>A) c.1451G>A (p.Cys484Tyr) c.1511G>A (p.Cys504Tyr) n.1387G>A c.1433G>A (p.Cys478Tyr) c.1703G>A (p.Cys568Tyr) c.1712G>A (p.Cys571Tyr) c.1058G>A (p.Cys353Tyr) c.1502G>A (p.Cys501Tyr) | gnomAD v4 |
9 | g.135770004G>C | CA375505955 | KCNT1 | c.1568G>C (p.Cys523Ser) c.1409G>C (p.Cys470Ser) c.1316G>C (p.Cys439Ser) c.1325G>C (p.Cys442Ser) c.1469G>C (p.Cys490Ser) c.*1178G>C (n.*1178G>C) c.1451G>C (p.Cys484Ser) c.1511G>C (p.Cys504Ser) n.1387G>C c.1433G>C (p.Cys478Ser) c.1703G>C (p.Cys568Ser) c.1712G>C (p.Cys571Ser) c.1058G>C (p.Cys353Ser) c.1502G>C (p.Cys501Ser) | |
9 | g.135770004G>T | CA375505956 | KCNT1 | c.1568G>T (p.Cys523Phe) c.1409G>T (p.Cys470Phe) c.1316G>T (p.Cys439Phe) c.1325G>T (p.Cys442Phe) c.1469G>T (p.Cys490Phe) c.*1178G>T (n.*1178G>T) c.1451G>T (p.Cys484Phe) c.1511G>T (p.Cys504Phe) n.1387G>T c.1433G>T (p.Cys478Phe) c.1703G>T (p.Cys568Phe) c.1712G>T (p.Cys571Phe) c.1058G>T (p.Cys353Phe) c.1502G>T (p.Cys501Phe) | gnomAD v4 |
9 | g.135770004_135770021dup | CA860988055 | KCNT1 | c.1568_1585dup (p.Thr528_Leu529insArgProAlaThrSerThr) c.1409_1426dup (p.Thr475_Leu476insArgProAlaThrSerThr) c.1316_1333dup (p.Thr444_Leu445insArgProAlaThrSerThr) c.1325_1342dup (p.Thr447_Leu448insArgProAlaThrSerThr) c.1469_1486dup (p.Thr495_Leu496insArgProAlaThrSerThr) c.*1178_*1195dup (n.*1178_*1195dup) c.1451_1468dup (p.Thr489_Leu490insArgProAlaThrSerThr) c.1511_1528dup (p.Thr509_Leu510insArgProAlaThrSerThr) n.1387_1404dup c.1433_1450dup (p.Thr483_Leu484insArgProAlaThrSerThr) c.1703_1720dup (p.Thr573_Leu574insArgProAlaThrSerThr) c.1712_1729dup (p.Thr576_Leu577insArgProAlaThrSerThr) c.1058_1075dup (p.Thr358_Leu359insArgProAlaThrSerThr) c.1502_1519dup (p.Thr506_Leu507insArgProAlaThrSerThr) | ClinVar dbSNP gnomAD v4 |
9 | g.135770005C>A | CA375505957 | KCNT1 | c.1569C>A (p.Cys523Ter) c.1410C>A (p.Cys470Ter) c.1317C>A (p.Cys439Ter) c.1326C>A (p.Cys442Ter) c.1470C>A (p.Cys490Ter) c.*1179C>A (n.*1179C>A) c.1452C>A (p.Cys484Ter) c.1512C>A (p.Cys504Ter) n.1388C>A c.1434C>A (p.Cys478Ter) c.1704C>A (p.Cys568Ter) c.1713C>A (p.Cys571Ter) c.1059C>A (p.Cys353Ter) c.1503C>A (p.Cys501Ter) | gnomAD v4 |
9 | g.135770005C>G | CA375505958 | KCNT1 | c.1569C>G (p.Cys523Trp) c.1410C>G (p.Cys470Trp) c.1317C>G (p.Cys439Trp) c.1326C>G (p.Cys442Trp) c.1470C>G (p.Cys490Trp) c.*1179C>G (n.*1179C>G) c.1452C>G (p.Cys484Trp) c.1512C>G (p.Cys504Trp) n.1388C>G c.1434C>G (p.Cys478Trp) c.1704C>G (p.Cys568Trp) c.1713C>G (p.Cys571Trp) c.1059C>G (p.Cys353Trp) c.1503C>G (p.Cys501Trp) | |
9 | g.135770005C>T | CA467698401 | KCNT1 | c.1569C>T (p.Cys523=) c.1410C>T (p.Cys470=) c.1317C>T (p.Cys439=) c.1326C>T (p.Cys442=) c.1470C>T (p.Cys490=) c.*1179C>T (n.*1179C>T) c.1452C>T (p.Cys484=) c.1512C>T (p.Cys504=) n.1388C>T c.1434C>T (p.Cys478=) c.1704C>T (p.Cys568=) c.1713C>T (p.Cys571=) c.1059C>T (p.Cys353=) c.1503C>T (p.Cys501=) | gnomAD v4 |
9 | g.135770006C>A | CA375505959 | KCNT1 | c.1570C>A (p.Pro524Thr) c.1411C>A (p.Pro471Thr) c.1318C>A (p.Pro440Thr) c.1327C>A (p.Pro443Thr) c.1471C>A (p.Pro491Thr) c.*1180C>A (n.*1180C>A) c.1453C>A (p.Pro485Thr) c.1513C>A (p.Pro505Thr) n.1389C>A c.1435C>A (p.Pro479Thr) c.1705C>A (p.Pro569Thr) c.1714C>A (p.Pro572Thr) c.1060C>A (p.Pro354Thr) c.1504C>A (p.Pro502Thr) | gnomAD v4 |
9 | g.135770006C>G | CA375505960 | KCNT1 | c.1570C>G (p.Pro524Ala) c.1411C>G (p.Pro471Ala) c.1318C>G (p.Pro440Ala) c.1327C>G (p.Pro443Ala) c.1471C>G (p.Pro491Ala) c.*1180C>G (n.*1180C>G) c.1453C>G (p.Pro485Ala) c.1513C>G (p.Pro505Ala) n.1389C>G c.1435C>G (p.Pro479Ala) c.1705C>G (p.Pro569Ala) c.1714C>G (p.Pro572Ala) c.1060C>G (p.Pro354Ala) c.1504C>G (p.Pro502Ala) | |
9 | g.135770006C>T | CA375505961 | KCNT1 | c.1570C>T (p.Pro524Ser) c.1411C>T (p.Pro471Ser) c.1318C>T (p.Pro440Ser) c.1327C>T (p.Pro443Ser) c.1471C>T (p.Pro491Ser) c.*1180C>T (n.*1180C>T) c.1453C>T (p.Pro485Ser) c.1513C>T (p.Pro505Ser) n.1389C>T c.1435C>T (p.Pro479Ser) c.1705C>T (p.Pro569Ser) c.1714C>T (p.Pro572Ser) c.1060C>T (p.Pro354Ser) c.1504C>T (p.Pro502Ser) | gnomAD v4 |
9 | g.135770007C>A | CA375505962 | KCNT1 | c.1571C>A (p.Pro524Gln) c.1412C>A (p.Pro471Gln) c.1319C>A (p.Pro440Gln) c.1328C>A (p.Pro443Gln) c.1472C>A (p.Pro491Gln) c.*1181C>A (n.*1181C>A) c.1454C>A (p.Pro485Gln) c.1514C>A (p.Pro505Gln) n.1390C>A c.1436C>A (p.Pro479Gln) c.1706C>A (p.Pro569Gln) c.1715C>A (p.Pro572Gln) c.1061C>A (p.Pro354Gln) c.1505C>A (p.Pro502Gln) | gnomAD v4 COSMIC COSMIC |
9 | g.135770007C= | CA1883872514 | KCNT1 | c.1571C= (p.Pro524=) c.1412C= (p.Pro471=) c.1319C= (p.Pro440=) c.1328C= (p.Pro443=) c.1472C= (p.Pro491=) c.*1181C= (n.*1181C=) c.1454C= (p.Pro485=) c.1514C= (p.Pro505=) n.1390C= c.1436C= (p.Pro479=) c.1706C= (p.Pro569=) c.1715C= (p.Pro572=) c.1061C= (p.Pro354=) c.1505C= (p.Pro502=) | |
9 | g.135770007C>G | CA375505963 | KCNT1 | c.1571C>G (p.Pro524Arg) c.1412C>G (p.Pro471Arg) c.1319C>G (p.Pro440Arg) c.1328C>G (p.Pro443Arg) c.1472C>G (p.Pro491Arg) c.*1181C>G (n.*1181C>G) c.1454C>G (p.Pro485Arg) c.1514C>G (p.Pro505Arg) n.1390C>G c.1436C>G (p.Pro479Arg) c.1706C>G (p.Pro569Arg) c.1715C>G (p.Pro572Arg) c.1061C>G (p.Pro354Arg) c.1505C>G (p.Pro502Arg) | gnomAD v4 |
9 | g.135770007C>T | CA375505964 | KCNT1 | c.1571C>T (p.Pro524Leu) c.1412C>T (p.Pro471Leu) c.1319C>T (p.Pro440Leu) c.1328C>T (p.Pro443Leu) c.1472C>T (p.Pro491Leu) c.*1181C>T (n.*1181C>T) c.1454C>T (p.Pro485Leu) c.1514C>T (p.Pro505Leu) n.1390C>T c.1436C>T (p.Pro479Leu) c.1706C>T (p.Pro569Leu) c.1715C>T (p.Pro572Leu) c.1061C>T (p.Pro354Leu) c.1505C>T (p.Pro502Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135770008G>A | CA5326966 | KCNT1 | c.1572G>A (p.Pro524=) c.1413G>A (p.Pro471=) c.1320G>A (p.Pro440=) c.1329G>A (p.Pro443=) c.1473G>A (p.Pro491=) c.*1182G>A (n.*1182G>A) c.1455G>A (p.Pro485=) c.1515G>A (p.Pro505=) n.1391G>A c.1437G>A (p.Pro479=) c.1707G>A (p.Pro569=) c.1716G>A (p.Pro572=) c.1062G>A (p.Pro354=) c.1506G>A (p.Pro502=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.135770008G>C | CA467698402 | KCNT1 | c.1572G>C (p.Pro524=) c.1413G>C (p.Pro471=) c.1320G>C (p.Pro440=) c.1329G>C (p.Pro443=) c.1473G>C (p.Pro491=) c.*1182G>C (n.*1182G>C) c.1455G>C (p.Pro485=) c.1515G>C (p.Pro505=) n.1391G>C c.1437G>C (p.Pro479=) c.1707G>C (p.Pro569=) c.1716G>C (p.Pro572=) c.1062G>C (p.Pro354=) c.1506G>C (p.Pro502=) | gnomAD v4 |
9 | g.135770008G= | CA1883872518 | KCNT1 | c.1572G= (p.Pro524=) c.1413G= (p.Pro471=) c.1320G= (p.Pro440=) c.1329G= (p.Pro443=) c.1473G= (p.Pro491=) c.*1182G= (n.*1182G=) c.1455G= (p.Pro485=) c.1515G= (p.Pro505=) n.1391G= c.1437G= (p.Pro479=) c.1707G= (p.Pro569=) c.1716G= (p.Pro572=) c.1062G= (p.Pro354=) c.1506G= (p.Pro502=) | |
9 | g.135770008G>T | CA467698403 | KCNT1 | c.1572G>T (p.Pro524=) c.1413G>T (p.Pro471=) c.1320G>T (p.Pro440=) c.1329G>T (p.Pro443=) c.1473G>T (p.Pro491=) c.*1182G>T (n.*1182G>T) c.1455G>T (p.Pro485=) c.1515G>T (p.Pro505=) n.1391G>T c.1437G>T (p.Pro479=) c.1707G>T (p.Pro569=) c.1716G>T (p.Pro572=) c.1062G>T (p.Pro354=) c.1506G>T (p.Pro502=) | gnomAD v4 |
9 | g.135770009G>A | CA375505965 | KCNT1 | c.1573G>A (p.Ala525Thr) c.1414G>A (p.Ala472Thr) c.1321G>A (p.Ala441Thr) c.1330G>A (p.Ala444Thr) c.1474G>A (p.Ala492Thr) c.*1183G>A (n.*1183G>A) c.1456G>A (p.Ala486Thr) c.1516G>A (p.Ala506Thr) n.1392G>A c.1438G>A (p.Ala480Thr) c.1708G>A (p.Ala570Thr) c.1717G>A (p.Ala573Thr) c.1063G>A (p.Ala355Thr) c.1507G>A (p.Ala503Thr) | gnomAD v4 |
9 | g.135770009G>C | CA375505967 | KCNT1 | c.1573G>C (p.Ala525Pro) c.1414G>C (p.Ala472Pro) c.1321G>C (p.Ala441Pro) c.1330G>C (p.Ala444Pro) c.1474G>C (p.Ala492Pro) c.*1183G>C (n.*1183G>C) c.1456G>C (p.Ala486Pro) c.1516G>C (p.Ala506Pro) n.1392G>C c.1438G>C (p.Ala480Pro) c.1708G>C (p.Ala570Pro) c.1717G>C (p.Ala573Pro) c.1063G>C (p.Ala355Pro) c.1507G>C (p.Ala503Pro) | |
9 | g.135770009G>T | CA375505966 | KCNT1 | c.1573G>T (p.Ala525Ser) c.1414G>T (p.Ala472Ser) c.1321G>T (p.Ala441Ser) c.1330G>T (p.Ala444Ser) c.1474G>T (p.Ala492Ser) c.*1183G>T (n.*1183G>T) c.1456G>T (p.Ala486Ser) c.1516G>T (p.Ala506Ser) n.1392G>T c.1438G>T (p.Ala480Ser) c.1708G>T (p.Ala570Ser) c.1717G>T (p.Ala573Ser) c.1063G>T (p.Ala355Ser) c.1507G>T (p.Ala503Ser) | gnomAD v4 |
9 | g.135770010C>A | CA375505968 | KCNT1 | c.1574C>A (p.Ala525Glu) c.1415C>A (p.Ala472Glu) c.1322C>A (p.Ala441Glu) c.1331C>A (p.Ala444Glu) c.1475C>A (p.Ala492Glu) c.*1184C>A (n.*1184C>A) c.1457C>A (p.Ala486Glu) c.1517C>A (p.Ala506Glu) n.1393C>A c.1439C>A (p.Ala480Glu) c.1709C>A (p.Ala570Glu) c.1718C>A (p.Ala573Glu) c.1064C>A (p.Ala355Glu) c.1508C>A (p.Ala503Glu) | gnomAD v4 |
9 | g.135770010C= | CA1883872528 | KCNT1 | c.1574C= (p.Ala525=) c.1415C= (p.Ala472=) c.1322C= (p.Ala441=) c.1331C= (p.Ala444=) c.1475C= (p.Ala492=) c.*1184C= (n.*1184C=) c.1457C= (p.Ala486=) c.1517C= (p.Ala506=) n.1393C= c.1439C= (p.Ala480=) c.1709C= (p.Ala570=) c.1718C= (p.Ala573=) c.1064C= (p.Ala355=) c.1508C= (p.Ala503=) | |
9 | g.135770010C>G | CA375505969 | KCNT1 | c.1574C>G (p.Ala525Gly) c.1415C>G (p.Ala472Gly) c.1322C>G (p.Ala441Gly) c.1331C>G (p.Ala444Gly) c.1475C>G (p.Ala492Gly) c.*1184C>G (n.*1184C>G) c.1457C>G (p.Ala486Gly) c.1517C>G (p.Ala506Gly) n.1393C>G c.1439C>G (p.Ala480Gly) c.1709C>G (p.Ala570Gly) c.1718C>G (p.Ala573Gly) c.1064C>G (p.Ala355Gly) c.1508C>G (p.Ala503Gly) | gnomAD v4 |
9 | g.135770010C>T | CA5326967 | KCNT1 | c.1574C>T (p.Ala525Val) c.1415C>T (p.Ala472Val) c.1322C>T (p.Ala441Val) c.1331C>T (p.Ala444Val) c.1475C>T (p.Ala492Val) c.*1184C>T (n.*1184C>T) c.1457C>T (p.Ala486Val) c.1517C>T (p.Ala506Val) n.1393C>T c.1439C>T (p.Ala480Val) c.1709C>T (p.Ala570Val) c.1718C>T (p.Ala573Val) c.1064C>T (p.Ala355Val) c.1508C>T (p.Ala503Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135770011G>A | CA5326968 | KCNT1 | c.1575G>A (p.Ala525=) c.1416G>A (p.Ala472=) c.1323G>A (p.Ala441=) c.1332G>A (p.Ala444=) c.1476G>A (p.Ala492=) c.*1185G>A (n.*1185G>A) c.1458G>A (p.Ala486=) c.1518G>A (p.Ala506=) n.1394G>A c.1440G>A (p.Ala480=) c.1710G>A (p.Ala570=) c.1719G>A (p.Ala573=) c.1065G>A (p.Ala355=) c.1509G>A (p.Ala503=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135770011G>C | CA467698404 | KCNT1 | c.1575G>C (p.Ala525=) c.1416G>C (p.Ala472=) c.1323G>C (p.Ala441=) c.1332G>C (p.Ala444=) c.1476G>C (p.Ala492=) c.*1185G>C (n.*1185G>C) c.1458G>C (p.Ala486=) c.1518G>C (p.Ala506=) n.1394G>C c.1440G>C (p.Ala480=) c.1710G>C (p.Ala570=) c.1719G>C (p.Ala573=) c.1065G>C (p.Ala355=) c.1509G>C (p.Ala503=) | gnomAD v4 |
9 | g.135770011G= | CA1883872533 | KCNT1 | c.1575G= (p.Ala525=) c.1416G= (p.Ala472=) c.1323G= (p.Ala441=) c.1332G= (p.Ala444=) c.1476G= (p.Ala492=) c.*1185G= (n.*1185G=) c.1458G= (p.Ala486=) c.1518G= (p.Ala506=) n.1394G= c.1440G= (p.Ala480=) c.1710G= (p.Ala570=) c.1719G= (p.Ala573=) c.1065G= (p.Ala355=) c.1509G= (p.Ala503=) | |
9 | g.135770011G>T | CA467698405 | KCNT1 | c.1575G>T (p.Ala525=) c.1416G>T (p.Ala472=) c.1323G>T (p.Ala441=) c.1332G>T (p.Ala444=) c.1476G>T (p.Ala492=) c.*1185G>T (n.*1185G>T) c.1458G>T (p.Ala486=) c.1518G>T (p.Ala506=) n.1394G>T c.1440G>T (p.Ala480=) c.1710G>T (p.Ala570=) c.1719G>T (p.Ala573=) c.1065G>T (p.Ala355=) c.1509G>T (p.Ala503=) | gnomAD v4 |
9 | g.135770012A>C | CA375505970 | KCNT1 | c.1576A>C (p.Thr526Pro) c.1417A>C (p.Thr473Pro) c.1324A>C (p.Thr442Pro) c.1333A>C (p.Thr445Pro) c.1477A>C (p.Thr493Pro) c.*1186A>C (n.*1186A>C) c.1459A>C (p.Thr487Pro) c.1519A>C (p.Thr507Pro) n.1395A>C c.1441A>C (p.Thr481Pro) c.1711A>C (p.Thr571Pro) c.1720A>C (p.Thr574Pro) c.1066A>C (p.Thr356Pro) c.1510A>C (p.Thr504Pro) | |
9 | g.135770012A>G | CA375505971 | KCNT1 | c.1576A>G (p.Thr526Ala) c.1417A>G (p.Thr473Ala) c.1324A>G (p.Thr442Ala) c.1333A>G (p.Thr445Ala) c.1477A>G (p.Thr493Ala) c.*1186A>G (n.*1186A>G) c.1459A>G (p.Thr487Ala) c.1519A>G (p.Thr507Ala) n.1395A>G c.1441A>G (p.Thr481Ala) c.1711A>G (p.Thr571Ala) c.1720A>G (p.Thr574Ala) c.1066A>G (p.Thr356Ala) c.1510A>G (p.Thr504Ala) | gnomAD v4 |
9 | g.135770012A>T | CA375505972 | KCNT1 | c.1576A>T (p.Thr526Ser) c.1417A>T (p.Thr473Ser) c.1324A>T (p.Thr442Ser) c.1333A>T (p.Thr445Ser) c.1477A>T (p.Thr493Ser) c.*1186A>T (n.*1186A>T) c.1459A>T (p.Thr487Ser) c.1519A>T (p.Thr507Ser) n.1395A>T c.1441A>T (p.Thr481Ser) c.1711A>T (p.Thr571Ser) c.1720A>T (p.Thr574Ser) c.1066A>T (p.Thr356Ser) c.1510A>T (p.Thr504Ser) | |
9 | g.135770013C>A | CA375505973 | KCNT1 | c.1577C>A (p.Thr526Asn) c.1418C>A (p.Thr473Asn) c.1325C>A (p.Thr442Asn) c.1334C>A (p.Thr445Asn) c.1478C>A (p.Thr493Asn) c.*1187C>A (n.*1187C>A) c.1460C>A (p.Thr487Asn) c.1520C>A (p.Thr507Asn) n.1396C>A c.1442C>A (p.Thr481Asn) c.1712C>A (p.Thr571Asn) c.1721C>A (p.Thr574Asn) c.1067C>A (p.Thr356Asn) c.1511C>A (p.Thr504Asn) | |
9 | g.135770013C= | CA1883872543 | KCNT1 | c.1577C= (p.Thr526=) c.1418C= (p.Thr473=) c.1325C= (p.Thr442=) c.1334C= (p.Thr445=) c.1478C= (p.Thr493=) c.*1187C= (n.*1187C=) c.1460C= (p.Thr487=) c.1520C= (p.Thr507=) n.1396C= c.1442C= (p.Thr481=) c.1712C= (p.Thr571=) c.1721C= (p.Thr574=) c.1067C= (p.Thr356=) c.1511C= (p.Thr504=) | |
9 | g.135770013C>G | CA201472701 | KCNT1 | c.1577C>G (p.Thr526Ser) c.1418C>G (p.Thr473Ser) c.1325C>G (p.Thr442Ser) c.1334C>G (p.Thr445Ser) c.1478C>G (p.Thr493Ser) c.*1187C>G (n.*1187C>G) c.1460C>G (p.Thr487Ser) c.1520C>G (p.Thr507Ser) n.1396C>G c.1442C>G (p.Thr481Ser) c.1712C>G (p.Thr571Ser) c.1721C>G (p.Thr574Ser) c.1067C>G (p.Thr356Ser) c.1511C>G (p.Thr504Ser) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135770013C>T | CA375505974 | KCNT1 | c.1577C>T (p.Thr526Ile) c.1418C>T (p.Thr473Ile) c.1325C>T (p.Thr442Ile) c.1334C>T (p.Thr445Ile) c.1478C>T (p.Thr493Ile) c.*1187C>T (n.*1187C>T) c.1460C>T (p.Thr487Ile) c.1520C>T (p.Thr507Ile) n.1396C>T c.1442C>T (p.Thr481Ile) c.1712C>T (p.Thr571Ile) c.1721C>T (p.Thr574Ile) c.1067C>T (p.Thr356Ile) c.1511C>T (p.Thr504Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.135770014C>A | CA467698406 | KCNT1 | c.1578C>A (p.Thr526=) c.1419C>A (p.Thr473=) c.1326C>A (p.Thr442=) c.1335C>A (p.Thr445=) c.1479C>A (p.Thr493=) c.*1188C>A (n.*1188C>A) c.1461C>A (p.Thr487=) c.1521C>A (p.Thr507=) n.1397C>A c.1443C>A (p.Thr481=) c.1713C>A (p.Thr571=) c.1722C>A (p.Thr574=) c.1068C>A (p.Thr356=) c.1512C>A (p.Thr504=) | gnomAD v4 |
9 | g.135770014C>G | CA467698407 | KCNT1 | c.1578C>G (p.Thr526=) c.1419C>G (p.Thr473=) c.1326C>G (p.Thr442=) c.1335C>G (p.Thr445=) c.1479C>G (p.Thr493=) c.*1188C>G (n.*1188C>G) c.1461C>G (p.Thr487=) c.1521C>G (p.Thr507=) n.1397C>G c.1443C>G (p.Thr481=) c.1713C>G (p.Thr571=) c.1722C>G (p.Thr574=) c.1068C>G (p.Thr356=) c.1512C>G (p.Thr504=) | |
9 | g.135770014C>T | CA467698408 | KCNT1 | c.1578C>T (p.Thr526=) c.1419C>T (p.Thr473=) c.1326C>T (p.Thr442=) c.1335C>T (p.Thr445=) c.1479C>T (p.Thr493=) c.*1188C>T (n.*1188C>T) c.1461C>T (p.Thr487=) c.1521C>T (p.Thr507=) n.1397C>T c.1443C>T (p.Thr481=) c.1713C>T (p.Thr571=) c.1722C>T (p.Thr574=) c.1068C>T (p.Thr356=) c.1512C>T (p.Thr504=) | |
9 | g.135770015T>A | CA375505975 | KCNT1 | c.1579T>A (p.Ser527Thr) c.1420T>A (p.Ser474Thr) c.1327T>A (p.Ser443Thr) c.1336T>A (p.Ser446Thr) c.1480T>A (p.Ser494Thr) c.*1189T>A (n.*1189T>A) c.1462T>A (p.Ser488Thr) c.1522T>A (p.Ser508Thr) n.1398T>A c.1444T>A (p.Ser482Thr) c.1714T>A (p.Ser572Thr) c.1723T>A (p.Ser575Thr) c.1069T>A (p.Ser357Thr) c.1513T>A (p.Ser505Thr) | |
9 | g.135770015T>C | CA375505976 | KCNT1 | c.1579T>C (p.Ser527Pro) c.1420T>C (p.Ser474Pro) c.1327T>C (p.Ser443Pro) c.1336T>C (p.Ser446Pro) c.1480T>C (p.Ser494Pro) c.*1189T>C (n.*1189T>C) c.1462T>C (p.Ser488Pro) c.1522T>C (p.Ser508Pro) n.1398T>C c.1444T>C (p.Ser482Pro) c.1714T>C (p.Ser572Pro) c.1723T>C (p.Ser575Pro) c.1069T>C (p.Ser357Pro) c.1513T>C (p.Ser505Pro) | gnomAD v4 |
9 | g.135770015T>G | CA375505977 | KCNT1 | c.1579T>G (p.Ser527Ala) c.1420T>G (p.Ser474Ala) c.1327T>G (p.Ser443Ala) c.1336T>G (p.Ser446Ala) c.1480T>G (p.Ser494Ala) c.*1189T>G (n.*1189T>G) c.1462T>G (p.Ser488Ala) c.1522T>G (p.Ser508Ala) n.1398T>G c.1444T>G (p.Ser482Ala) c.1714T>G (p.Ser572Ala) c.1723T>G (p.Ser575Ala) c.1069T>G (p.Ser357Ala) c.1513T>G (p.Ser505Ala) | |
9 | g.135770016C>A | CA375505980 | KCNT1 | c.1580C>A (p.Ser527Tyr) c.1421C>A (p.Ser474Tyr) c.1328C>A (p.Ser443Tyr) c.1337C>A (p.Ser446Tyr) c.1481C>A (p.Ser494Tyr) c.*1190C>A (n.*1190C>A) c.1463C>A (p.Ser488Tyr) c.1523C>A (p.Ser508Tyr) n.1399C>A c.1445C>A (p.Ser482Tyr) c.1715C>A (p.Ser572Tyr) c.1724C>A (p.Ser575Tyr) c.1070C>A (p.Ser357Tyr) c.1514C>A (p.Ser505Tyr) | gnomAD v4 |
9 | g.135770016C= | CA1883872544 | KCNT1 | c.1580C= (p.Ser527=) c.1421C= (p.Ser474=) c.1328C= (p.Ser443=) c.1337C= (p.Ser446=) c.1481C= (p.Ser494=) c.*1190C= (n.*1190C=) c.1463C= (p.Ser488=) c.1523C= (p.Ser508=) n.1399C= c.1445C= (p.Ser482=) c.1715C= (p.Ser572=) c.1724C= (p.Ser575=) c.1070C= (p.Ser357=) c.1514C= (p.Ser505=) | |
9 | g.135770016C>G | CA375505978 | KCNT1 | c.1580C>G (p.Ser527Cys) c.1421C>G (p.Ser474Cys) c.1328C>G (p.Ser443Cys) c.1337C>G (p.Ser446Cys) c.1481C>G (p.Ser494Cys) c.*1190C>G (n.*1190C>G) c.1463C>G (p.Ser488Cys) c.1523C>G (p.Ser508Cys) n.1399C>G c.1445C>G (p.Ser482Cys) c.1715C>G (p.Ser572Cys) c.1724C>G (p.Ser575Cys) c.1070C>G (p.Ser357Cys) c.1514C>G (p.Ser505Cys) | |
9 | g.135770016C>T | CA375505979 | KCNT1 | c.1580C>T (p.Ser527Phe) c.1421C>T (p.Ser474Phe) c.1328C>T (p.Ser443Phe) c.1337C>T (p.Ser446Phe) c.1481C>T (p.Ser494Phe) c.*1190C>T (n.*1190C>T) c.1463C>T (p.Ser488Phe) c.1523C>T (p.Ser508Phe) n.1399C>T c.1445C>T (p.Ser482Phe) c.1715C>T (p.Ser572Phe) c.1724C>T (p.Ser575Phe) c.1070C>T (p.Ser357Phe) c.1514C>T (p.Ser505Phe) | gnomAD v4 |
9 | g.135770017C>A | CA467698411 | KCNT1 | c.1581C>A (p.Ser527=) c.1422C>A (p.Ser474=) c.1329C>A (p.Ser443=) c.1338C>A (p.Ser446=) c.1482C>A (p.Ser494=) c.*1191C>A (n.*1191C>A) c.1464C>A (p.Ser488=) c.1524C>A (p.Ser508=) n.1400C>A c.1446C>A (p.Ser482=) c.1716C>A (p.Ser572=) c.1725C>A (p.Ser575=) c.1071C>A (p.Ser357=) c.1515C>A (p.Ser505=) | gnomAD v4 |
9 | g.135770017C>G | CA467698409 | KCNT1 | c.1581C>G (p.Ser527=) c.1422C>G (p.Ser474=) c.1329C>G (p.Ser443=) c.1338C>G (p.Ser446=) c.1482C>G (p.Ser494=) c.*1191C>G (n.*1191C>G) c.1464C>G (p.Ser488=) c.1524C>G (p.Ser508=) n.1400C>G c.1446C>G (p.Ser482=) c.1716C>G (p.Ser572=) c.1725C>G (p.Ser575=) c.1071C>G (p.Ser357=) c.1515C>G (p.Ser505=) | |
9 | g.135770017C>T | CA467698410 | KCNT1 | c.1581C>T (p.Ser527=) c.1422C>T (p.Ser474=) c.1329C>T (p.Ser443=) c.1338C>T (p.Ser446=) c.1482C>T (p.Ser494=) c.*1191C>T (n.*1191C>T) c.1464C>T (p.Ser488=) c.1524C>T (p.Ser508=) n.1400C>T c.1446C>T (p.Ser482=) c.1716C>T (p.Ser572=) c.1725C>T (p.Ser575=) c.1071C>T (p.Ser357=) c.1515C>T (p.Ser505=) | dbSNP gnomAD v4 |
9 | g.135770023_135770031dup | CA591146005 | KCNT1 | c.1587_1595dup (p.Leu532_Leu533insIleThrLeu) c.1428_1436dup (p.Leu479_Leu480insIleThrLeu) c.1335_1343dup (p.Leu448_Leu449insIleThrLeu) c.1344_1352dup (p.Leu451_Leu452insIleThrLeu) c.1488_1496dup (p.Leu499_Leu500insIleThrLeu) c.*1197_*1205dup (n.*1197_*1205dup) c.1470_1478dup (p.Leu493_Leu494insIleThrLeu) c.1530_1538dup (p.Leu513_Leu514insIleThrLeu) n.1406_1414dup c.1452_1460dup (p.Leu487_Leu488insIleThrLeu) c.1722_1730dup (p.Leu577_Leu578insIleThrLeu) c.1731_1739dup (p.Leu580_Leu581insIleThrLeu) c.1077_1085dup (p.Leu362_Leu363insIleThrLeu) c.1521_1529dup (p.Leu510_Leu511insIleThrLeu) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135770023_135770031del | CA2692518232 | KCNT1 | c.1587_1595del (p.Ile530_Leu532del) c.1428_1436del (p.Ile477_Leu479del) c.1335_1343del (p.Ile446_Leu448del) c.1344_1352del (p.Ile449_Leu451del) c.1488_1496del (p.Ile497_Leu499del) c.*1197_*1205del (n.*1197_*1205del) c.1470_1478del (p.Ile491_Leu493del) c.1530_1538del (p.Ile511_Leu513del) n.1406_1414del c.1452_1460del (p.Ile485_Leu487del) c.1722_1730del (p.Ile575_Leu577del) c.1731_1739del (p.Ile578_Leu580del) c.1077_1085del (p.Ile360_Leu362del) c.1521_1529del (p.Ile508_Leu510del) | gnomAD v4 |
9 | g.135770018A>C | CA375505981 | KCNT1 | c.1582A>C (p.Thr528Pro) c.1423A>C (p.Thr475Pro) c.1330A>C (p.Thr444Pro) c.1339A>C (p.Thr447Pro) c.1483A>C (p.Thr495Pro) c.*1192A>C (n.*1192A>C) c.1465A>C (p.Thr489Pro) c.1525A>C (p.Thr509Pro) n.1401A>C c.1447A>C (p.Thr483Pro) c.1717A>C (p.Thr573Pro) c.1726A>C (p.Thr576Pro) c.1072A>C (p.Thr358Pro) c.1516A>C (p.Thr506Pro) | |
9 | g.135770018A>G | CA375505982 | KCNT1 | c.1582A>G (p.Thr528Ala) c.1423A>G (p.Thr475Ala) c.1330A>G (p.Thr444Ala) c.1339A>G (p.Thr447Ala) c.1483A>G (p.Thr495Ala) c.*1192A>G (n.*1192A>G) c.1465A>G (p.Thr489Ala) c.1525A>G (p.Thr509Ala) n.1401A>G c.1447A>G (p.Thr483Ala) c.1717A>G (p.Thr573Ala) c.1726A>G (p.Thr576Ala) c.1072A>G (p.Thr358Ala) c.1516A>G (p.Thr506Ala) | gnomAD v4 |
9 | g.135770018A>T | CA375505983 | KCNT1 | c.1582A>T (p.Thr528Ser) c.1423A>T (p.Thr475Ser) c.1330A>T (p.Thr444Ser) c.1339A>T (p.Thr447Ser) c.1483A>T (p.Thr495Ser) c.*1192A>T (n.*1192A>T) c.1465A>T (p.Thr489Ser) c.1525A>T (p.Thr509Ser) n.1401A>T c.1447A>T (p.Thr483Ser) c.1717A>T (p.Thr573Ser) c.1726A>T (p.Thr576Ser) c.1072A>T (p.Thr358Ser) c.1516A>T (p.Thr506Ser) | gnomAD v4 |
9 | g.135770019C>A | CA375505984 | KCNT1 | c.1583C>A (p.Thr528Asn) c.1424C>A (p.Thr475Asn) c.1331C>A (p.Thr444Asn) c.1340C>A (p.Thr447Asn) c.1484C>A (p.Thr495Asn) c.*1193C>A (n.*1193C>A) c.1466C>A (p.Thr489Asn) c.1526C>A (p.Thr509Asn) n.1402C>A c.1448C>A (p.Thr483Asn) c.1718C>A (p.Thr573Asn) c.1727C>A (p.Thr576Asn) c.1073C>A (p.Thr358Asn) c.1517C>A (p.Thr506Asn) | gnomAD v4 |
9 | g.135770019C>G | CA375505985 | KCNT1 | c.1583C>G (p.Thr528Ser) c.1424C>G (p.Thr475Ser) c.1331C>G (p.Thr444Ser) c.1340C>G (p.Thr447Ser) c.1484C>G (p.Thr495Ser) c.*1193C>G (n.*1193C>G) c.1466C>G (p.Thr489Ser) c.1526C>G (p.Thr509Ser) n.1402C>G c.1448C>G (p.Thr483Ser) c.1718C>G (p.Thr573Ser) c.1727C>G (p.Thr576Ser) c.1073C>G (p.Thr358Ser) c.1517C>G (p.Thr506Ser) | |
9 | g.135770019C>T | CA375505986 | KCNT1 | c.1583C>T (p.Thr528Ile) c.1424C>T (p.Thr475Ile) c.1331C>T (p.Thr444Ile) c.1340C>T (p.Thr447Ile) c.1484C>T (p.Thr495Ile) c.*1193C>T (n.*1193C>T) c.1466C>T (p.Thr489Ile) c.1526C>T (p.Thr509Ile) n.1402C>T c.1448C>T (p.Thr483Ile) c.1718C>T (p.Thr573Ile) c.1727C>T (p.Thr576Ile) c.1073C>T (p.Thr358Ile) c.1517C>T (p.Thr506Ile) | gnomAD v4 |
9 | g.135770020C>A | CA467698414 | KCNT1 | c.1584C>A (p.Thr528=) c.1425C>A (p.Thr475=) c.1332C>A (p.Thr444=) c.1341C>A (p.Thr447=) c.1485C>A (p.Thr495=) c.*1194C>A (n.*1194C>A) c.1467C>A (p.Thr489=) c.1527C>A (p.Thr509=) n.1403C>A c.1449C>A (p.Thr483=) c.1719C>A (p.Thr573=) c.1728C>A (p.Thr576=) c.1074C>A (p.Thr358=) c.1518C>A (p.Thr506=) | gnomAD v4 |
9 | g.135770020C= | CA1883872547 | KCNT1 | c.1584C= (p.Thr528=) c.1425C= (p.Thr475=) c.1332C= (p.Thr444=) c.1341C= (p.Thr447=) c.1485C= (p.Thr495=) c.*1194C= (n.*1194C=) c.1467C= (p.Thr489=) c.1527C= (p.Thr509=) n.1403C= c.1449C= (p.Thr483=) c.1719C= (p.Thr573=) c.1728C= (p.Thr576=) c.1074C= (p.Thr358=) c.1518C= (p.Thr506=) | |
9 | g.135770020C>G | CA467698413 | KCNT1 | c.1584C>G (p.Thr528=) c.1425C>G (p.Thr475=) c.1332C>G (p.Thr444=) c.1341C>G (p.Thr447=) c.1485C>G (p.Thr495=) c.*1194C>G (n.*1194C>G) c.1467C>G (p.Thr489=) c.1527C>G (p.Thr509=) n.1403C>G c.1449C>G (p.Thr483=) c.1719C>G (p.Thr573=) c.1728C>G (p.Thr576=) c.1074C>G (p.Thr358=) c.1518C>G (p.Thr506=) | |
9 | g.135770020C>T | CA467698412 | KCNT1 | c.1584C>T (p.Thr528=) c.1425C>T (p.Thr475=) c.1332C>T (p.Thr444=) c.1341C>T (p.Thr447=) c.1485C>T (p.Thr495=) c.*1194C>T (n.*1194C>T) c.1467C>T (p.Thr489=) c.1527C>T (p.Thr509=) n.1403C>T c.1449C>T (p.Thr483=) c.1719C>T (p.Thr573=) c.1728C>T (p.Thr576=) c.1074C>T (p.Thr358=) c.1518C>T (p.Thr506=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135770021C>A | CA375505987 | KCNT1 | c.1585C>A (p.Leu529Ile) c.1426C>A (p.Leu476Ile) c.1333C>A (p.Leu445Ile) c.1342C>A (p.Leu448Ile) c.1486C>A (p.Leu496Ile) c.*1195C>A (n.*1195C>A) c.1468C>A (p.Leu490Ile) c.1528C>A (p.Leu510Ile) n.1404C>A c.1450C>A (p.Leu484Ile) c.1720C>A (p.Leu574Ile) c.1729C>A (p.Leu577Ile) c.1075C>A (p.Leu359Ile) c.1519C>A (p.Leu507Ile) | gnomAD v4 |
9 | g.135770021C= | CA1883872550 | KCNT1 | c.1585C= (p.Leu529=) c.1426C= (p.Leu476=) c.1333C= (p.Leu445=) c.1342C= (p.Leu448=) c.1486C= (p.Leu496=) c.*1195C= (n.*1195C=) c.1468C= (p.Leu490=) c.1528C= (p.Leu510=) n.1404C= c.1450C= (p.Leu484=) c.1720C= (p.Leu574=) c.1729C= (p.Leu577=) c.1075C= (p.Leu359=) c.1519C= (p.Leu507=) | |
9 | g.135770021C>G | CA375505988 | KCNT1 | c.1585C>G (p.Leu529Val) c.1426C>G (p.Leu476Val) c.1333C>G (p.Leu445Val) c.1342C>G (p.Leu448Val) c.1486C>G (p.Leu496Val) c.*1195C>G (n.*1195C>G) c.1468C>G (p.Leu490Val) c.1528C>G (p.Leu510Val) n.1404C>G c.1450C>G (p.Leu484Val) c.1720C>G (p.Leu574Val) c.1729C>G (p.Leu577Val) c.1075C>G (p.Leu359Val) c.1519C>G (p.Leu507Val) | ClinVar gnomAD v4 |
9 | g.135770021C>T | CA375505989 | KCNT1 | c.1585C>T (p.Leu529Phe) c.1426C>T (p.Leu476Phe) c.1333C>T (p.Leu445Phe) c.1342C>T (p.Leu448Phe) c.1486C>T (p.Leu496Phe) c.*1195C>T (n.*1195C>T) c.1468C>T (p.Leu490Phe) c.1528C>T (p.Leu510Phe) n.1404C>T c.1450C>T (p.Leu484Phe) c.1720C>T (p.Leu574Phe) c.1729C>T (p.Leu577Phe) c.1075C>T (p.Leu359Phe) c.1519C>T (p.Leu507Phe) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135770022T>A | CA375505990 | KCNT1 | c.1586T>A (p.Leu529His) c.1427T>A (p.Leu476His) c.1334T>A (p.Leu445His) c.1343T>A (p.Leu448His) c.1487T>A (p.Leu496His) c.*1196T>A (n.*1196T>A) c.1469T>A (p.Leu490His) c.1529T>A (p.Leu510His) n.1405T>A c.1451T>A (p.Leu484His) c.1721T>A (p.Leu574His) c.1730T>A (p.Leu577His) c.1076T>A (p.Leu359His) c.1520T>A (p.Leu507His) | gnomAD v4 |
9 | g.135770022T>C | CA375505991 | KCNT1 | c.1586T>C (p.Leu529Pro) c.1427T>C (p.Leu476Pro) c.1334T>C (p.Leu445Pro) c.1343T>C (p.Leu448Pro) c.1487T>C (p.Leu496Pro) c.*1196T>C (n.*1196T>C) c.1469T>C (p.Leu490Pro) c.1529T>C (p.Leu510Pro) n.1405T>C c.1451T>C (p.Leu484Pro) c.1721T>C (p.Leu574Pro) c.1730T>C (p.Leu577Pro) c.1076T>C (p.Leu359Pro) c.1520T>C (p.Leu507Pro) | gnomAD v4 |
9 | g.135770022T>G | CA375505992 | KCNT1 | c.1586T>G (p.Leu529Arg) c.1427T>G (p.Leu476Arg) c.1334T>G (p.Leu445Arg) c.1343T>G (p.Leu448Arg) c.1487T>G (p.Leu496Arg) c.*1196T>G (n.*1196T>G) c.1469T>G (p.Leu490Arg) c.1529T>G (p.Leu510Arg) n.1405T>G c.1451T>G (p.Leu484Arg) c.1721T>G (p.Leu574Arg) c.1730T>G (p.Leu577Arg) c.1076T>G (p.Leu359Arg) c.1520T>G (p.Leu507Arg) | gnomAD v4 |
9 | g.135770023C>A | CA467698415 | KCNT1 | c.1587C>A (p.Leu529=) c.1428C>A (p.Leu476=) c.1335C>A (p.Leu445=) c.1344C>A (p.Leu448=) c.1488C>A (p.Leu496=) c.*1197C>A (n.*1197C>A) c.1470C>A (p.Leu490=) c.1530C>A (p.Leu510=) n.1406C>A c.1452C>A (p.Leu484=) c.1722C>A (p.Leu574=) c.1731C>A (p.Leu577=) c.1077C>A (p.Leu359=) c.1521C>A (p.Leu507=) | gnomAD v4 COSMIC COSMIC |
9 | g.135770023C>G | CA467698416 | KCNT1 | c.1587C>G (p.Leu529=) c.1428C>G (p.Leu476=) c.1335C>G (p.Leu445=) c.1344C>G (p.Leu448=) c.1488C>G (p.Leu496=) c.*1197C>G (n.*1197C>G) c.1470C>G (p.Leu490=) c.1530C>G (p.Leu510=) n.1406C>G c.1452C>G (p.Leu484=) c.1722C>G (p.Leu574=) c.1731C>G (p.Leu577=) c.1077C>G (p.Leu359=) c.1521C>G (p.Leu507=) | |
9 | g.135770023C>T | CA467698417 | KCNT1 | c.1587C>T (p.Leu529=) c.1428C>T (p.Leu476=) c.1335C>T (p.Leu445=) c.1344C>T (p.Leu448=) c.1488C>T (p.Leu496=) c.*1197C>T (n.*1197C>T) c.1470C>T (p.Leu490=) c.1530C>T (p.Leu510=) n.1406C>T c.1452C>T (p.Leu484=) c.1722C>T (p.Leu574=) c.1731C>T (p.Leu577=) c.1077C>T (p.Leu359=) c.1521C>T (p.Leu507=) | gnomAD v4 |
9 | g.135770024A>C | CA375505993 | KCNT1 | c.1588A>C (p.Ile530Leu) c.1429A>C (p.Ile477Leu) c.1336A>C (p.Ile446Leu) c.1345A>C (p.Ile449Leu) c.1489A>C (p.Ile497Leu) c.*1198A>C (n.*1198A>C) c.1471A>C (p.Ile491Leu) c.1531A>C (p.Ile511Leu) n.1407A>C c.1453A>C (p.Ile485Leu) c.1723A>C (p.Ile575Leu) c.1732A>C (p.Ile578Leu) c.1078A>C (p.Ile360Leu) c.1522A>C (p.Ile508Leu) | |
9 | g.135770024A>G | CA375505995 | KCNT1 | c.1588A>G (p.Ile530Val) c.1429A>G (p.Ile477Val) c.1336A>G (p.Ile446Val) c.1345A>G (p.Ile449Val) c.1489A>G (p.Ile497Val) c.*1198A>G (n.*1198A>G) c.1471A>G (p.Ile491Val) c.1531A>G (p.Ile511Val) n.1407A>G c.1453A>G (p.Ile485Val) c.1723A>G (p.Ile575Val) c.1732A>G (p.Ile578Val) c.1078A>G (p.Ile360Val) c.1522A>G (p.Ile508Val) | gnomAD v4 |
9 | g.135770024A>T | CA375505994 | KCNT1 | c.1588A>T (p.Ile530Phe) c.1429A>T (p.Ile477Phe) c.1336A>T (p.Ile446Phe) c.1345A>T (p.Ile449Phe) c.1489A>T (p.Ile497Phe) c.*1198A>T (n.*1198A>T) c.1471A>T (p.Ile491Phe) c.1531A>T (p.Ile511Phe) n.1407A>T c.1453A>T (p.Ile485Phe) c.1723A>T (p.Ile575Phe) c.1732A>T (p.Ile578Phe) c.1078A>T (p.Ile360Phe) c.1522A>T (p.Ile508Phe) | |
9 | g.135770025T>A | CA375505996 | KCNT1 | c.1589T>A (p.Ile530Asn) c.1430T>A (p.Ile477Asn) c.1337T>A (p.Ile446Asn) c.1346T>A (p.Ile449Asn) c.1490T>A (p.Ile497Asn) c.*1199T>A (n.*1199T>A) c.1472T>A (p.Ile491Asn) c.1532T>A (p.Ile511Asn) n.1408T>A c.1454T>A (p.Ile485Asn) c.1724T>A (p.Ile575Asn) c.1733T>A (p.Ile578Asn) c.1079T>A (p.Ile360Asn) c.1523T>A (p.Ile508Asn) | gnomAD v4 |
9 | g.135770025T>C | CA375505998 | KCNT1 | c.1589T>C (p.Ile530Thr) c.1430T>C (p.Ile477Thr) c.1337T>C (p.Ile446Thr) c.1346T>C (p.Ile449Thr) c.1490T>C (p.Ile497Thr) c.*1199T>C (n.*1199T>C) c.1472T>C (p.Ile491Thr) c.1532T>C (p.Ile511Thr) n.1408T>C c.1454T>C (p.Ile485Thr) c.1724T>C (p.Ile575Thr) c.1733T>C (p.Ile578Thr) c.1079T>C (p.Ile360Thr) c.1523T>C (p.Ile508Thr) | gnomAD v4 |
9 | g.135770025T>G | CA375505997 | KCNT1 | c.1589T>G (p.Ile530Ser) c.1430T>G (p.Ile477Ser) c.1337T>G (p.Ile446Ser) c.1346T>G (p.Ile449Ser) c.1490T>G (p.Ile497Ser) c.*1199T>G (n.*1199T>G) c.1472T>G (p.Ile491Ser) c.1532T>G (p.Ile511Ser) n.1408T>G c.1454T>G (p.Ile485Ser) c.1724T>G (p.Ile575Ser) c.1733T>G (p.Ile578Ser) c.1079T>G (p.Ile360Ser) c.1523T>G (p.Ile508Ser) | |
9 | g.135770026C>A | CA467698418 | KCNT1 | c.1590C>A (p.Ile530=) c.1431C>A (p.Ile477=) c.1338C>A (p.Ile446=) c.1347C>A (p.Ile449=) c.1491C>A (p.Ile497=) c.*1200C>A (n.*1200C>A) c.1473C>A (p.Ile491=) c.1533C>A (p.Ile511=) n.1409C>A c.1455C>A (p.Ile485=) c.1725C>A (p.Ile575=) c.1734C>A (p.Ile578=) c.1080C>A (p.Ile360=) c.1524C>A (p.Ile508=) | gnomAD v4 |
9 | g.135770026C= | CA1883872557 | KCNT1 | c.1590C= (p.Ile530=) c.1431C= (p.Ile477=) c.1338C= (p.Ile446=) c.1347C= (p.Ile449=) c.1491C= (p.Ile497=) c.*1200C= (n.*1200C=) c.1473C= (p.Ile491=) c.1533C= (p.Ile511=) n.1409C= c.1455C= (p.Ile485=) c.1725C= (p.Ile575=) c.1734C= (p.Ile578=) c.1080C= (p.Ile360=) c.1524C= (p.Ile508=) | |
9 | g.135770026C>G | CA375505999 | KCNT1 | c.1590C>G (p.Ile530Met) c.1431C>G (p.Ile477Met) c.1338C>G (p.Ile446Met) c.1347C>G (p.Ile449Met) c.1491C>G (p.Ile497Met) c.*1200C>G (n.*1200C>G) c.1473C>G (p.Ile491Met) c.1533C>G (p.Ile511Met) n.1409C>G c.1455C>G (p.Ile485Met) c.1725C>G (p.Ile575Met) c.1734C>G (p.Ile578Met) c.1080C>G (p.Ile360Met) c.1524C>G (p.Ile508Met) | |
9 | g.135770026C>T | CA467698419 | KCNT1 | c.1590C>T (p.Ile530=) c.1431C>T (p.Ile477=) c.1338C>T (p.Ile446=) c.1347C>T (p.Ile449=) c.1491C>T (p.Ile497=) c.*1200C>T (n.*1200C>T) c.1473C>T (p.Ile491=) c.1533C>T (p.Ile511=) n.1409C>T c.1455C>T (p.Ile485=) c.1725C>T (p.Ile575=) c.1734C>T (p.Ile578=) c.1080C>T (p.Ile360=) c.1524C>T (p.Ile508=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135770027A= | CA1883872560 | KCNT1 | c.1591A= (p.Thr531=) c.1432A= (p.Thr478=) c.1339A= (p.Thr447=) c.1348A= (p.Thr450=) c.1492A= (p.Thr498=) c.*1201A= (n.*1201A=) c.1474A= (p.Thr492=) c.1534A= (p.Thr512=) n.1410A= c.1456A= (p.Thr486=) c.1726A= (p.Thr576=) c.1735A= (p.Thr579=) c.1081A= (p.Thr361=) c.1525A= (p.Thr509=) | |
9 | g.135770027A>C | CA375506000 | KCNT1 | c.1591A>C (p.Thr531Pro) c.1432A>C (p.Thr478Pro) c.1339A>C (p.Thr447Pro) c.1348A>C (p.Thr450Pro) c.1492A>C (p.Thr498Pro) c.*1201A>C (n.*1201A>C) c.1474A>C (p.Thr492Pro) c.1534A>C (p.Thr512Pro) n.1410A>C c.1456A>C (p.Thr486Pro) c.1726A>C (p.Thr576Pro) c.1735A>C (p.Thr579Pro) c.1081A>C (p.Thr361Pro) c.1525A>C (p.Thr509Pro) | |
9 | g.135770027A>G | CA375506001 | KCNT1 | c.1591A>G (p.Thr531Ala) c.1432A>G (p.Thr478Ala) c.1339A>G (p.Thr447Ala) c.1348A>G (p.Thr450Ala) c.1492A>G (p.Thr498Ala) c.*1201A>G (n.*1201A>G) c.1474A>G (p.Thr492Ala) c.1534A>G (p.Thr512Ala) n.1410A>G c.1456A>G (p.Thr486Ala) c.1726A>G (p.Thr576Ala) c.1735A>G (p.Thr579Ala) c.1081A>G (p.Thr361Ala) c.1525A>G (p.Thr509Ala) | gnomAD v4 |
9 | g.135770027A>T | CA375506002 | KCNT1 | c.1591A>T (p.Thr531Ser) c.1432A>T (p.Thr478Ser) c.1339A>T (p.Thr447Ser) c.1348A>T (p.Thr450Ser) c.1492A>T (p.Thr498Ser) c.*1201A>T (n.*1201A>T) c.1474A>T (p.Thr492Ser) c.1534A>T (p.Thr512Ser) n.1410A>T c.1456A>T (p.Thr486Ser) c.1726A>T (p.Thr576Ser) c.1735A>T (p.Thr579Ser) c.1081A>T (p.Thr361Ser) c.1525A>T (p.Thr509Ser) | dbSNP gnomAD v4 |
9 | g.135770028C>A | CA375506003 | KCNT1 | c.1592C>A (p.Thr531Asn) c.1433C>A (p.Thr478Asn) c.1340C>A (p.Thr447Asn) c.1349C>A (p.Thr450Asn) c.1493C>A (p.Thr498Asn) c.*1202C>A (n.*1202C>A) c.1475C>A (p.Thr492Asn) c.1535C>A (p.Thr512Asn) n.1411C>A c.1457C>A (p.Thr486Asn) c.1727C>A (p.Thr576Asn) c.1736C>A (p.Thr579Asn) c.1082C>A (p.Thr361Asn) c.1526C>A (p.Thr509Asn) | gnomAD v4 |
9 | g.135770028C= | CA1883872561 | KCNT1 | c.1592C= (p.Thr531=) c.1433C= (p.Thr478=) c.1340C= (p.Thr447=) c.1349C= (p.Thr450=) c.1493C= (p.Thr498=) c.*1202C= (n.*1202C=) c.1475C= (p.Thr492=) c.1535C= (p.Thr512=) n.1411C= c.1457C= (p.Thr486=) c.1727C= (p.Thr576=) c.1736C= (p.Thr579=) c.1082C= (p.Thr361=) c.1526C= (p.Thr509=) | |
9 | g.135770028C>G | CA375506004 | KCNT1 | c.1592C>G (p.Thr531Ser) c.1433C>G (p.Thr478Ser) c.1340C>G (p.Thr447Ser) c.1349C>G (p.Thr450Ser) c.1493C>G (p.Thr498Ser) c.*1202C>G (n.*1202C>G) c.1475C>G (p.Thr492Ser) c.1535C>G (p.Thr512Ser) n.1411C>G c.1457C>G (p.Thr486Ser) c.1727C>G (p.Thr576Ser) c.1736C>G (p.Thr579Ser) c.1082C>G (p.Thr361Ser) c.1526C>G (p.Thr509Ser) | |
9 | g.135770028C>T | CA201472704 | KCNT1 | c.1592C>T (p.Thr531Ile) c.1433C>T (p.Thr478Ile) c.1340C>T (p.Thr447Ile) c.1349C>T (p.Thr450Ile) c.1493C>T (p.Thr498Ile) c.*1202C>T (n.*1202C>T) c.1475C>T (p.Thr492Ile) c.1535C>T (p.Thr512Ile) n.1411C>T c.1457C>T (p.Thr486Ile) c.1727C>T (p.Thr576Ile) c.1736C>T (p.Thr579Ile) c.1082C>T (p.Thr361Ile) c.1526C>T (p.Thr509Ile) | dbSNP gnomAD v4 |
9 | g.135770029C>A | CA467698420 | KCNT1 | c.1593C>A (p.Thr531=) c.1434C>A (p.Thr478=) c.1341C>A (p.Thr447=) c.1350C>A (p.Thr450=) c.1494C>A (p.Thr498=) c.*1203C>A (n.*1203C>A) c.1476C>A (p.Thr492=) c.1536C>A (p.Thr512=) n.1412C>A c.1458C>A (p.Thr486=) c.1728C>A (p.Thr576=) c.1737C>A (p.Thr579=) c.1083C>A (p.Thr361=) c.1527C>A (p.Thr509=) | gnomAD v4 |
9 | g.135770029C= | CA1883872563 | KCNT1 | c.1593C= (p.Thr531=) c.1434C= (p.Thr478=) c.1341C= (p.Thr447=) c.1350C= (p.Thr450=) c.1494C= (p.Thr498=) c.*1203C= (n.*1203C=) c.1476C= (p.Thr492=) c.1536C= (p.Thr512=) n.1412C= c.1458C= (p.Thr486=) c.1728C= (p.Thr576=) c.1737C= (p.Thr579=) c.1083C= (p.Thr361=) c.1527C= (p.Thr509=) | |
9 | g.135770029C>G | CA467698421 | KCNT1 | c.1593C>G (p.Thr531=) c.1434C>G (p.Thr478=) c.1341C>G (p.Thr447=) c.1350C>G (p.Thr450=) c.1494C>G (p.Thr498=) c.*1203C>G (n.*1203C>G) c.1476C>G (p.Thr492=) c.1536C>G (p.Thr512=) n.1412C>G c.1458C>G (p.Thr486=) c.1728C>G (p.Thr576=) c.1737C>G (p.Thr579=) c.1083C>G (p.Thr361=) c.1527C>G (p.Thr509=) | |
9 | g.135770029C>T | CA5326969 | KCNT1 | c.1593C>T (p.Thr531=) c.1434C>T (p.Thr478=) c.1341C>T (p.Thr447=) c.1350C>T (p.Thr450=) c.1494C>T (p.Thr498=) c.*1203C>T (n.*1203C>T) c.1476C>T (p.Thr492=) c.1536C>T (p.Thr512=) n.1412C>T c.1458C>T (p.Thr486=) c.1728C>T (p.Thr576=) c.1737C>T (p.Thr579=) c.1083C>T (p.Thr361=) c.1527C>T (p.Thr509=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135770030C>A | CA375506005 | KCNT1 | c.1594C>A (p.Leu532Met) c.1435C>A (p.Leu479Met) c.1342C>A (p.Leu448Met) c.1351C>A (p.Leu451Met) c.1495C>A (p.Leu499Met) c.*1204C>A (n.*1204C>A) c.1477C>A (p.Leu493Met) c.1537C>A (p.Leu513Met) n.1413C>A c.1459C>A (p.Leu487Met) c.1729C>A (p.Leu577Met) c.1738C>A (p.Leu580Met) c.1084C>A (p.Leu362Met) c.1528C>A (p.Leu510Met) | gnomAD v4 |
9 | g.135770030C>G | CA375506006 | KCNT1 | c.1594C>G (p.Leu532Val) c.1435C>G (p.Leu479Val) c.1342C>G (p.Leu448Val) c.1351C>G (p.Leu451Val) c.1495C>G (p.Leu499Val) c.*1204C>G (n.*1204C>G) c.1477C>G (p.Leu493Val) c.1537C>G (p.Leu513Val) n.1413C>G c.1459C>G (p.Leu487Val) c.1729C>G (p.Leu577Val) c.1738C>G (p.Leu580Val) c.1084C>G (p.Leu362Val) c.1528C>G (p.Leu510Val) | |
9 | g.135770030C>T | CA467698422 | KCNT1 | c.1594C>T (p.Leu532=) c.1435C>T (p.Leu479=) c.1342C>T (p.Leu448=) c.1351C>T (p.Leu451=) c.1495C>T (p.Leu499=) c.*1204C>T (n.*1204C>T) c.1477C>T (p.Leu493=) c.1537C>T (p.Leu513=) n.1413C>T c.1459C>T (p.Leu487=) c.1729C>T (p.Leu577=) c.1738C>T (p.Leu580=) c.1084C>T (p.Leu362=) c.1528C>T (p.Leu510=) | gnomAD v4 |
9 | g.135770031T>A | CA375506009 | KCNT1 | c.1595T>A (p.Leu532Gln) c.1436T>A (p.Leu479Gln) c.1343T>A (p.Leu448Gln) c.1352T>A (p.Leu451Gln) c.1496T>A (p.Leu499Gln) c.*1205T>A (n.*1205T>A) c.1478T>A (p.Leu493Gln) c.1538T>A (p.Leu513Gln) n.1414T>A c.1460T>A (p.Leu487Gln) c.1730T>A (p.Leu577Gln) c.1739T>A (p.Leu580Gln) c.1085T>A (p.Leu362Gln) c.1529T>A (p.Leu510Gln) | gnomAD v4 |
9 | g.135770031T>C | CA375506008 | KCNT1 | c.1595T>C (p.Leu532Pro) c.1436T>C (p.Leu479Pro) c.1343T>C (p.Leu448Pro) c.1352T>C (p.Leu451Pro) c.1496T>C (p.Leu499Pro) c.*1205T>C (n.*1205T>C) c.1478T>C (p.Leu493Pro) c.1538T>C (p.Leu513Pro) n.1414T>C c.1460T>C (p.Leu487Pro) c.1730T>C (p.Leu577Pro) c.1739T>C (p.Leu580Pro) c.1085T>C (p.Leu362Pro) c.1529T>C (p.Leu510Pro) | gnomAD v4 |
9 | g.135770031T>G | CA375506007 | KCNT1 | c.1595T>G (p.Leu532Arg) c.1436T>G (p.Leu479Arg) c.1343T>G (p.Leu448Arg) c.1352T>G (p.Leu451Arg) c.1496T>G (p.Leu499Arg) c.*1205T>G (n.*1205T>G) c.1478T>G (p.Leu493Arg) c.1538T>G (p.Leu513Arg) n.1414T>G c.1460T>G (p.Leu487Arg) c.1730T>G (p.Leu577Arg) c.1739T>G (p.Leu580Arg) c.1085T>G (p.Leu362Arg) c.1529T>G (p.Leu510Arg) | |
9 | g.135770032G>A | CA467698423 | KCNT1 | c.1596G>A (p.Leu532=) c.1437G>A (p.Leu479=) c.1344G>A (p.Leu448=) c.1353G>A (p.Leu451=) c.1497G>A (p.Leu499=) c.*1206G>A (n.*1206G>A) c.1479G>A (p.Leu493=) c.1539G>A (p.Leu513=) n.1415G>A c.1461G>A (p.Leu487=) c.1731G>A (p.Leu577=) c.1740G>A (p.Leu580=) c.1086G>A (p.Leu362=) c.1530G>A (p.Leu510=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.135770032G>C | CA467698424 | KCNT1 | c.1596G>C (p.Leu532=) c.1437G>C (p.Leu479=) c.1344G>C (p.Leu448=) c.1353G>C (p.Leu451=) c.1497G>C (p.Leu499=) c.*1206G>C (n.*1206G>C) c.1479G>C (p.Leu493=) c.1539G>C (p.Leu513=) n.1415G>C c.1461G>C (p.Leu487=) c.1731G>C (p.Leu577=) c.1740G>C (p.Leu580=) c.1086G>C (p.Leu362=) c.1530G>C (p.Leu510=) | gnomAD v4 |
9 | g.135770032G= | CA1883872572 | KCNT1 | c.1596G= (p.Leu532=) c.1437G= (p.Leu479=) c.1344G= (p.Leu448=) c.1353G= (p.Leu451=) c.1497G= (p.Leu499=) c.*1206G= (n.*1206G=) c.1479G= (p.Leu493=) c.1539G= (p.Leu513=) n.1415G= c.1461G= (p.Leu487=) c.1731G= (p.Leu577=) c.1740G= (p.Leu580=) c.1086G= (p.Leu362=) c.1530G= (p.Leu510=) | |
9 | g.135770032G>T | CA467698425 | KCNT1 | c.1596G>T (p.Leu532=) c.1437G>T (p.Leu479=) c.1344G>T (p.Leu448=) c.1353G>T (p.Leu451=) c.1497G>T (p.Leu499=) c.*1206G>T (n.*1206G>T) c.1479G>T (p.Leu493=) c.1539G>T (p.Leu513=) n.1415G>T c.1461G>T (p.Leu487=) c.1731G>T (p.Leu577=) c.1740G>T (p.Leu580=) c.1086G>T (p.Leu362=) c.1530G>T (p.Leu510=) | gnomAD v4 |
9 | g.135770033C>A | CA375506010 | KCNT1 | c.1597C>A (p.Leu533Met) c.1438C>A (p.Leu480Met) c.1345C>A (p.Leu449Met) c.1354C>A (p.Leu452Met) c.1498C>A (p.Leu500Met) c.*1207C>A (n.*1207C>A) c.1480C>A (p.Leu494Met) c.1540C>A (p.Leu514Met) n.1416C>A c.1462C>A (p.Leu488Met) c.1732C>A (p.Leu578Met) c.1741C>A (p.Leu581Met) c.1087C>A (p.Leu363Met) c.1531C>A (p.Leu511Met) | gnomAD v4 |
9 | g.135770033C>G | CA375506011 | KCNT1 | c.1597C>G (p.Leu533Val) c.1438C>G (p.Leu480Val) c.1345C>G (p.Leu449Val) c.1354C>G (p.Leu452Val) c.1498C>G (p.Leu500Val) c.*1207C>G (n.*1207C>G) c.1480C>G (p.Leu494Val) c.1540C>G (p.Leu514Val) n.1416C>G c.1462C>G (p.Leu488Val) c.1732C>G (p.Leu578Val) c.1741C>G (p.Leu581Val) c.1087C>G (p.Leu363Val) c.1531C>G (p.Leu511Val) | |
9 | g.135770033C>T | CA467698426 | KCNT1 | c.1597C>T (p.Leu533=) c.1438C>T (p.Leu480=) c.1345C>T (p.Leu449=) c.1354C>T (p.Leu452=) c.1498C>T (p.Leu500=) c.*1207C>T (n.*1207C>T) c.1480C>T (p.Leu494=) c.1540C>T (p.Leu514=) n.1416C>T c.1462C>T (p.Leu488=) c.1732C>T (p.Leu578=) c.1741C>T (p.Leu581=) c.1087C>T (p.Leu363=) c.1531C>T (p.Leu511=) | gnomAD v4 |
9 | g.135770034T>A | CA375506012 | KCNT1 | c.1598T>A (p.Leu533Gln) c.1439T>A (p.Leu480Gln) c.1346T>A (p.Leu449Gln) c.1355T>A (p.Leu452Gln) c.1499T>A (p.Leu500Gln) c.*1208T>A (n.*1208T>A) c.1481T>A (p.Leu494Gln) c.1541T>A (p.Leu514Gln) n.1417T>A c.1463T>A (p.Leu488Gln) c.1733T>A (p.Leu578Gln) c.1742T>A (p.Leu581Gln) c.1088T>A (p.Leu363Gln) c.1532T>A (p.Leu511Gln) | |
9 | g.135770034T>C | CA375506013 | KCNT1 | c.1598T>C (p.Leu533Pro) c.1439T>C (p.Leu480Pro) c.1346T>C (p.Leu449Pro) c.1355T>C (p.Leu452Pro) c.1499T>C (p.Leu500Pro) c.*1208T>C (n.*1208T>C) c.1481T>C (p.Leu494Pro) c.1541T>C (p.Leu514Pro) n.1417T>C c.1463T>C (p.Leu488Pro) c.1733T>C (p.Leu578Pro) c.1742T>C (p.Leu581Pro) c.1088T>C (p.Leu363Pro) c.1532T>C (p.Leu511Pro) | |
9 | g.135770034T>G | CA375506014 | KCNT1 | c.1598T>G (p.Leu533Arg) c.1439T>G (p.Leu480Arg) c.1346T>G (p.Leu449Arg) c.1355T>G (p.Leu452Arg) c.1499T>G (p.Leu500Arg) c.*1208T>G (n.*1208T>G) c.1481T>G (p.Leu494Arg) c.1541T>G (p.Leu514Arg) n.1417T>G c.1463T>G (p.Leu488Arg) c.1733T>G (p.Leu578Arg) c.1742T>G (p.Leu581Arg) c.1088T>G (p.Leu363Arg) c.1532T>G (p.Leu511Arg) | |
9 | g.135770035G>A | CA467698427 | KCNT1 | c.1599G>A (p.Leu533=) c.1440G>A (p.Leu480=) c.1347G>A (p.Leu449=) c.1356G>A (p.Leu452=) c.1500G>A (p.Leu500=) c.*1209G>A (n.*1209G>A) c.1482G>A (p.Leu494=) c.1542G>A (p.Leu514=) n.1418G>A c.1464G>A (p.Leu488=) c.1734G>A (p.Leu578=) c.1743G>A (p.Leu581=) c.1089G>A (p.Leu363=) c.1533G>A (p.Leu511=) | gnomAD v4 |
9 | g.135770035G>C | CA467698428 | KCNT1 | c.1599G>C (p.Leu533=) c.1440G>C (p.Leu480=) c.1347G>C (p.Leu449=) c.1356G>C (p.Leu452=) c.1500G>C (p.Leu500=) c.*1209G>C (n.*1209G>C) c.1482G>C (p.Leu494=) c.1542G>C (p.Leu514=) n.1418G>C c.1464G>C (p.Leu488=) c.1734G>C (p.Leu578=) c.1743G>C (p.Leu581=) c.1089G>C (p.Leu363=) c.1533G>C (p.Leu511=) | |
9 | g.135770035G>T | CA467698429 | KCNT1 | c.1599G>T (p.Leu533=) c.1440G>T (p.Leu480=) c.1347G>T (p.Leu449=) c.1356G>T (p.Leu452=) c.1500G>T (p.Leu500=) c.*1209G>T (n.*1209G>T) c.1482G>T (p.Leu494=) c.1542G>T (p.Leu514=) n.1418G>T c.1464G>T (p.Leu488=) c.1734G>T (p.Leu578=) c.1743G>T (p.Leu581=) c.1089G>T (p.Leu363=) c.1533G>T (p.Leu511=) | gnomAD v4 |
9 | g.135770035_135770036del | CA2692518235 | KCNT1 | c.1599_1600del (p.Val534AlafsTer?) c.1440_1441del (p.Val481AlafsTer?) c.1347_1348del (p.Val450AlafsTer?) c.1356_1357del (p.Val453AlafsTer?) c.1500_1501del (p.Val501AlafsTer?) c.*1209_*1210del (n.*1209_*1210del) c.1482_1483del (p.Val495AlafsTer?) c.1542_1543del (p.Val515AlafsTer?) n.1418_1419del c.1464_1465del (p.Val489AlafsTer?) c.1734_1735del (p.Val579AlafsTer?) c.1743_1744del (p.Val582AlafsTer?) c.1089_1090del (p.Val364AlafsTer?) c.1533_1534del (p.Val512AlafsTer?) | gnomAD v4 |
9 | g.135770036G>A | CA375506015 | KCNT1 | c.1600G>A (p.Val534Met) c.1441G>A (p.Val481Met) c.1348G>A (p.Val450Met) c.1357G>A (p.Val453Met) c.1501G>A (p.Val501Met) c.*1210G>A (n.*1210G>A) c.1483G>A (p.Val495Met) c.1543G>A (p.Val515Met) n.1419G>A c.1465G>A (p.Val489Met) c.1735G>A (p.Val579Met) c.1744G>A (p.Val582Met) c.1090G>A (p.Val364Met) c.1534G>A (p.Val512Met) | |
9 | g.135770036G>C | CA375506016 | KCNT1 | c.1600G>C (p.Val534Leu) c.1441G>C (p.Val481Leu) c.1348G>C (p.Val450Leu) c.1357G>C (p.Val453Leu) c.1501G>C (p.Val501Leu) c.*1210G>C (n.*1210G>C) c.1483G>C (p.Val495Leu) c.1543G>C (p.Val515Leu) n.1419G>C c.1465G>C (p.Val489Leu) c.1735G>C (p.Val579Leu) c.1744G>C (p.Val582Leu) c.1090G>C (p.Val364Leu) c.1534G>C (p.Val512Leu) | |
9 | g.135770036G= | CA1883872576 | KCNT1 | c.1600G= (p.Val534=) c.1441G= (p.Val481=) c.1348G= (p.Val450=) c.1357G= (p.Val453=) c.1501G= (p.Val501=) c.*1210G= (n.*1210G=) c.1483G= (p.Val495=) c.1543G= (p.Val515=) n.1419G= c.1465G= (p.Val489=) c.1735G= (p.Val579=) c.1744G= (p.Val582=) c.1090G= (p.Val364=) c.1534G= (p.Val512=) | |
9 | g.135770036G>T | CA375506017 | KCNT1 | c.1600G>T (p.Val534Leu) c.1441G>T (p.Val481Leu) c.1348G>T (p.Val450Leu) c.1357G>T (p.Val453Leu) c.1501G>T (p.Val501Leu) c.*1210G>T (n.*1210G>T) c.1483G>T (p.Val495Leu) c.1543G>T (p.Val515Leu) n.1419G>T c.1465G>T (p.Val489Leu) c.1735G>T (p.Val579Leu) c.1744G>T (p.Val582Leu) c.1090G>T (p.Val364Leu) c.1534G>T (p.Val512Leu) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135770037T>A | CA375506018 | KCNT1 | c.1601T>A (p.Val534Glu) c.1442T>A (p.Val481Glu) c.1349T>A (p.Val450Glu) c.1358T>A (p.Val453Glu) c.1502T>A (p.Val501Glu) c.*1211T>A (n.*1211T>A) c.1484T>A (p.Val495Glu) c.1544T>A (p.Val515Glu) n.1420T>A c.1466T>A (p.Val489Glu) c.1736T>A (p.Val579Glu) c.1745T>A (p.Val582Glu) c.1091T>A (p.Val364Glu) c.1535T>A (p.Val512Glu) | |
9 | g.135770037T>C | CA375506019 | KCNT1 | c.1601T>C (p.Val534Ala) c.1442T>C (p.Val481Ala) c.1349T>C (p.Val450Ala) c.1358T>C (p.Val453Ala) c.1502T>C (p.Val501Ala) c.*1211T>C (n.*1211T>C) c.1484T>C (p.Val495Ala) c.1544T>C (p.Val515Ala) n.1420T>C c.1466T>C (p.Val489Ala) c.1736T>C (p.Val579Ala) c.1745T>C (p.Val582Ala) c.1091T>C (p.Val364Ala) c.1535T>C (p.Val512Ala) | gnomAD v4 |
9 | g.135770037T>G | CA375506020 | KCNT1 | c.1601T>G (p.Val534Gly) c.1442T>G (p.Val481Gly) c.1349T>G (p.Val450Gly) c.1358T>G (p.Val453Gly) c.1502T>G (p.Val501Gly) c.*1211T>G (n.*1211T>G) c.1484T>G (p.Val495Gly) c.1544T>G (p.Val515Gly) n.1420T>G c.1466T>G (p.Val489Gly) c.1736T>G (p.Val579Gly) c.1745T>G (p.Val582Gly) c.1091T>G (p.Val364Gly) c.1535T>G (p.Val512Gly) | |
9 | g.135770038G>A | CA467698433 | KCNT1 | c.1602G>A (p.Val534=) c.1443G>A (p.Val481=) c.1350G>A (p.Val450=) c.1359G>A (p.Val453=) c.1503G>A (p.Val501=) c.*1212G>A (n.*1212G>A) c.1485G>A (p.Val495=) c.1545G>A (p.Val515=) n.1421G>A c.1467G>A (p.Val489=) c.1737G>A (p.Val579=) c.1746G>A (p.Val582=) c.1092G>A (p.Val364=) c.1536G>A (p.Val512=) | ClinVar dbSNP gnomAD v4 |
9 | g.135770038G>C | CA467698432 | KCNT1 | c.1602G>C (p.Val534=) c.1443G>C (p.Val481=) c.1350G>C (p.Val450=) c.1359G>C (p.Val453=) c.1503G>C (p.Val501=) c.*1212G>C (n.*1212G>C) c.1485G>C (p.Val495=) c.1545G>C (p.Val515=) n.1421G>C c.1467G>C (p.Val489=) c.1737G>C (p.Val579=) c.1746G>C (p.Val582=) c.1092G>C (p.Val364=) c.1536G>C (p.Val512=) | |
9 | g.135770038G>T | CA467698431 | KCNT1 | c.1602G>T (p.Val534=) c.1443G>T (p.Val481=) c.1350G>T (p.Val450=) c.1359G>T (p.Val453=) c.1503G>T (p.Val501=) c.*1212G>T (n.*1212G>T) c.1485G>T (p.Val495=) c.1545G>T (p.Val515=) n.1421G>T c.1467G>T (p.Val489=) c.1737G>T (p.Val579=) c.1746G>T (p.Val582=) c.1092G>T (p.Val364=) c.1536G>T (p.Val512=) | gnomAD v4 |
9 | g.135770039_135770119del | CA2692518240 | KCNT1 | c.1603_1619+64del c.1444_1460+64del c.1351_1367+64del c.1360_1376+64del c.1504_1520+64del c.*1213_*1229+64del c.1486_1502+64del c.1546_1562+64del n.1422_1438+64del c.1468_1484+64del c.1738_1754+64del c.1747_1763+64del c.1093_1109+64del c.1537_1553+64del | gnomAD v4 |
9 | g.135770039C>A | CA375506022 | KCNT1 | c.1603C>A (p.His535Asn) c.1444C>A (p.His482Asn) c.1351C>A (p.His451Asn) c.1360C>A (p.His454Asn) c.1504C>A (p.His502Asn) c.*1213C>A (n.*1213C>A) c.1486C>A (p.His496Asn) c.1546C>A (p.His516Asn) n.1422C>A c.1468C>A (p.His490Asn) c.1738C>A (p.His580Asn) c.1747C>A (p.His583Asn) c.1093C>A (p.His365Asn) c.1537C>A (p.His513Asn) | gnomAD v4 |
9 | g.135770039C>G | CA375506023 | KCNT1 | c.1603C>G (p.His535Asp) c.1444C>G (p.His482Asp) c.1351C>G (p.His451Asp) c.1360C>G (p.His454Asp) c.1504C>G (p.His502Asp) c.*1213C>G (n.*1213C>G) c.1486C>G (p.His496Asp) c.1546C>G (p.His516Asp) n.1422C>G c.1468C>G (p.His490Asp) c.1738C>G (p.His580Asp) c.1747C>G (p.His583Asp) c.1093C>G (p.His365Asp) c.1537C>G (p.His513Asp) | |
9 | g.135770039C>T | CA375506021 | KCNT1 | c.1603C>T (p.His535Tyr) c.1444C>T (p.His482Tyr) c.1351C>T (p.His451Tyr) c.1360C>T (p.His454Tyr) c.1504C>T (p.His502Tyr) c.*1213C>T (n.*1213C>T) c.1486C>T (p.His496Tyr) c.1546C>T (p.His516Tyr) n.1422C>T c.1468C>T (p.His490Tyr) c.1738C>T (p.His580Tyr) c.1747C>T (p.His583Tyr) c.1093C>T (p.His365Tyr) c.1537C>T (p.His513Tyr) | gnomAD v4 |
9 | g.135770042_135770043del | CA2692518243 | KCNT1 | c.1606_1607del (p.Thr536ValfsTer?) c.1447_1448del (p.Thr483ValfsTer?) c.1354_1355del (p.Thr452ValfsTer?) c.1363_1364del (p.Thr455ValfsTer?) c.1507_1508del (p.Thr503ValfsTer?) c.*1216_*1217del (n.*1216_*1217del) c.1489_1490del (p.Thr497ValfsTer?) c.1549_1550del (p.Thr517ValfsTer?) n.1425_1426del c.1471_1472del (p.Thr491ValfsTer?) c.1741_1742del (p.Thr581ValfsTer?) c.1750_1751del (p.Thr584ValfsTer?) c.1096_1097del (p.Thr366ValfsTer?) c.1540_1541del (p.Thr514ValfsTer?) | gnomAD v4 |
9 | g.135770040A>C | CA375506024 | KCNT1 | c.1604A>C (p.His535Pro) c.1445A>C (p.His482Pro) c.1352A>C (p.His451Pro) c.1361A>C (p.His454Pro) c.1505A>C (p.His502Pro) c.*1214A>C (n.*1214A>C) c.1487A>C (p.His496Pro) c.1547A>C (p.His516Pro) n.1423A>C c.1469A>C (p.His490Pro) c.1739A>C (p.His580Pro) c.1748A>C (p.His583Pro) c.1094A>C (p.His365Pro) c.1538A>C (p.His513Pro) | |
9 | g.135770040A>G | CA375506025 | KCNT1 | c.1604A>G (p.His535Arg) c.1445A>G (p.His482Arg) c.1352A>G (p.His451Arg) c.1361A>G (p.His454Arg) c.1505A>G (p.His502Arg) c.*1214A>G (n.*1214A>G) c.1487A>G (p.His496Arg) c.1547A>G (p.His516Arg) n.1423A>G c.1469A>G (p.His490Arg) c.1739A>G (p.His580Arg) c.1748A>G (p.His583Arg) c.1094A>G (p.His365Arg) c.1538A>G (p.His513Arg) | |
9 | g.135770040A>T | CA375506026 | KCNT1 | c.1604A>T (p.His535Leu) c.1445A>T (p.His482Leu) c.1352A>T (p.His451Leu) c.1361A>T (p.His454Leu) c.1505A>T (p.His502Leu) c.*1214A>T (n.*1214A>T) c.1487A>T (p.His496Leu) c.1547A>T (p.His516Leu) n.1423A>T c.1469A>T (p.His490Leu) c.1739A>T (p.His580Leu) c.1748A>T (p.His583Leu) c.1094A>T (p.His365Leu) c.1538A>T (p.His513Leu) | |
9 | g.135770041C>A | CA375506027 | KCNT1 | c.1605C>A (p.His535Gln) c.1446C>A (p.His482Gln) c.1353C>A (p.His451Gln) c.1362C>A (p.His454Gln) c.1506C>A (p.His502Gln) c.*1215C>A (n.*1215C>A) c.1488C>A (p.His496Gln) c.1548C>A (p.His516Gln) n.1424C>A c.1470C>A (p.His490Gln) c.1740C>A (p.His580Gln) c.1749C>A (p.His583Gln) c.1095C>A (p.His365Gln) c.1539C>A (p.His513Gln) | |
9 | g.135770041C= | CA1883872581 | KCNT1 | c.1605C= (p.His535=) c.1446C= (p.His482=) c.1353C= (p.His451=) c.1362C= (p.His454=) c.1506C= (p.His502=) c.*1215C= (n.*1215C=) c.1488C= (p.His496=) c.1548C= (p.His516=) n.1424C= c.1470C= (p.His490=) c.1740C= (p.His580=) c.1749C= (p.His583=) c.1095C= (p.His365=) c.1539C= (p.His513=) | |
9 | g.135770041C>G | CA375506028 | KCNT1 | c.1605C>G (p.His535Gln) c.1446C>G (p.His482Gln) c.1353C>G (p.His451Gln) c.1362C>G (p.His454Gln) c.1506C>G (p.His502Gln) c.*1215C>G (n.*1215C>G) c.1488C>G (p.His496Gln) c.1548C>G (p.His516Gln) n.1424C>G c.1470C>G (p.His490Gln) c.1740C>G (p.His580Gln) c.1749C>G (p.His583Gln) c.1095C>G (p.His365Gln) c.1539C>G (p.His513Gln) | |
9 | g.135770041C>T | CA467698434 | KCNT1 | c.1605C>T (p.His535=) c.1446C>T (p.His482=) c.1353C>T (p.His451=) c.1362C>T (p.His454=) c.1506C>T (p.His502=) c.*1215C>T (n.*1215C>T) c.1488C>T (p.His496=) c.1548C>T (p.His516=) n.1424C>T c.1470C>T (p.His490=) c.1740C>T (p.His580=) c.1749C>T (p.His583=) c.1095C>T (p.His365=) c.1539C>T (p.His513=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.135770042A>C | CA375506029 | KCNT1 | c.1606A>C (p.Thr536Pro) c.1447A>C (p.Thr483Pro) c.1354A>C (p.Thr452Pro) c.1363A>C (p.Thr455Pro) c.1507A>C (p.Thr503Pro) c.*1216A>C (n.*1216A>C) c.1489A>C (p.Thr497Pro) c.1549A>C (p.Thr517Pro) n.1425A>C c.1471A>C (p.Thr491Pro) c.1741A>C (p.Thr581Pro) c.1750A>C (p.Thr584Pro) c.1096A>C (p.Thr366Pro) c.1540A>C (p.Thr514Pro) | |
9 | g.135770042A>G | CA375506030 | KCNT1 | c.1606A>G (p.Thr536Ala) c.1447A>G (p.Thr483Ala) c.1354A>G (p.Thr452Ala) c.1363A>G (p.Thr455Ala) c.1507A>G (p.Thr503Ala) c.*1216A>G (n.*1216A>G) c.1489A>G (p.Thr497Ala) c.1549A>G (p.Thr517Ala) n.1425A>G c.1471A>G (p.Thr491Ala) c.1741A>G (p.Thr581Ala) c.1750A>G (p.Thr584Ala) c.1096A>G (p.Thr366Ala) c.1540A>G (p.Thr514Ala) | gnomAD v4 |
9 | g.135770042A>T | CA375506031 | KCNT1 | c.1606A>T (p.Thr536Ser) c.1447A>T (p.Thr483Ser) c.1354A>T (p.Thr452Ser) c.1363A>T (p.Thr455Ser) c.1507A>T (p.Thr503Ser) c.*1216A>T (n.*1216A>T) c.1489A>T (p.Thr497Ser) c.1549A>T (p.Thr517Ser) n.1425A>T c.1471A>T (p.Thr491Ser) c.1741A>T (p.Thr581Ser) c.1750A>T (p.Thr584Ser) c.1096A>T (p.Thr366Ser) c.1540A>T (p.Thr514Ser) | gnomAD v4 |
9 | g.135770043C>A | CA375506032 | KCNT1 | c.1607C>A (p.Thr536Lys) c.1448C>A (p.Thr483Lys) c.1355C>A (p.Thr452Lys) c.1364C>A (p.Thr455Lys) c.1508C>A (p.Thr503Lys) c.*1217C>A (n.*1217C>A) c.1490C>A (p.Thr497Lys) c.1550C>A (p.Thr517Lys) n.1426C>A c.1472C>A (p.Thr491Lys) c.1742C>A (p.Thr581Lys) c.1751C>A (p.Thr584Lys) c.1097C>A (p.Thr366Lys) c.1541C>A (p.Thr514Lys) | |
9 | g.135770043C= | CA1883872590 | KCNT1 | c.1607C= (p.Thr536=) c.1448C= (p.Thr483=) c.1355C= (p.Thr452=) c.1364C= (p.Thr455=) c.1508C= (p.Thr503=) c.*1217C= (n.*1217C=) c.1490C= (p.Thr497=) c.1550C= (p.Thr517=) n.1426C= c.1472C= (p.Thr491=) c.1742C= (p.Thr581=) c.1751C= (p.Thr584=) c.1097C= (p.Thr366=) c.1541C= (p.Thr514=) | |
9 | g.135770043C>G | CA375506033 | KCNT1 | c.1607C>G (p.Thr536Arg) c.1448C>G (p.Thr483Arg) c.1355C>G (p.Thr452Arg) c.1364C>G (p.Thr455Arg) c.1508C>G (p.Thr503Arg) c.*1217C>G (n.*1217C>G) c.1490C>G (p.Thr497Arg) c.1550C>G (p.Thr517Arg) n.1426C>G c.1472C>G (p.Thr491Arg) c.1742C>G (p.Thr581Arg) c.1751C>G (p.Thr584Arg) c.1097C>G (p.Thr366Arg) c.1541C>G (p.Thr514Arg) | |
9 | g.135770043C>T | CA375506034 | KCNT1 | c.1607C>T (p.Thr536Met) c.1448C>T (p.Thr483Met) c.1355C>T (p.Thr452Met) c.1364C>T (p.Thr455Met) c.1508C>T (p.Thr503Met) c.*1217C>T (n.*1217C>T) c.1490C>T (p.Thr497Met) c.1550C>T (p.Thr517Met) n.1426C>T c.1472C>T (p.Thr491Met) c.1742C>T (p.Thr581Met) c.1751C>T (p.Thr584Met) c.1097C>T (p.Thr366Met) c.1541C>T (p.Thr514Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.135770044G>A | CA5326970 | KCNT1 | c.1608G>A (p.Thr536=) c.1449G>A (p.Thr483=) c.1356G>A (p.Thr452=) c.1365G>A (p.Thr455=) c.1509G>A (p.Thr503=) c.*1218G>A (n.*1218G>A) c.1491G>A (p.Thr497=) c.1551G>A (p.Thr517=) n.1427G>A c.1473G>A (p.Thr491=) c.1743G>A (p.Thr581=) c.1752G>A (p.Thr584=) c.1098G>A (p.Thr366=) c.1542G>A (p.Thr514=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135770044G>C | CA467698435 | KCNT1 | c.1608G>C (p.Thr536=) c.1449G>C (p.Thr483=) c.1356G>C (p.Thr452=) c.1365G>C (p.Thr455=) c.1509G>C (p.Thr503=) c.*1218G>C (n.*1218G>C) c.1491G>C (p.Thr497=) c.1551G>C (p.Thr517=) n.1427G>C c.1473G>C (p.Thr491=) c.1743G>C (p.Thr581=) c.1752G>C (p.Thr584=) c.1098G>C (p.Thr366=) c.1542G>C (p.Thr514=) | gnomAD v4 |
9 | g.135770044G= | CA1883872592 | KCNT1 | c.1608G= (p.Thr536=) c.1449G= (p.Thr483=) c.1356G= (p.Thr452=) c.1365G= (p.Thr455=) c.1509G= (p.Thr503=) c.*1218G= (n.*1218G=) c.1491G= (p.Thr497=) c.1551G= (p.Thr517=) n.1427G= c.1473G= (p.Thr491=) c.1743G= (p.Thr581=) c.1752G= (p.Thr584=) c.1098G= (p.Thr366=) c.1542G= (p.Thr514=) | |
9 | g.135770044G>T | CA467698436 | KCNT1 | c.1608G>T (p.Thr536=) c.1449G>T (p.Thr483=) c.1356G>T (p.Thr452=) c.1365G>T (p.Thr455=) c.1509G>T (p.Thr503=) c.*1218G>T (n.*1218G>T) c.1491G>T (p.Thr497=) c.1551G>T (p.Thr517=) n.1427G>T c.1473G>T (p.Thr491=) c.1743G>T (p.Thr581=) c.1752G>T (p.Thr584=) c.1098G>T (p.Thr366=) c.1542G>T (p.Thr514=) | dbSNP gnomAD v2 |
9 | g.135770045T>A | CA375506036 | KCNT1 | c.1609T>A (p.Ser537Thr) c.1450T>A (p.Ser484Thr) c.1357T>A (p.Ser453Thr) c.1366T>A (p.Ser456Thr) c.1510T>A (p.Ser504Thr) c.*1219T>A (n.*1219T>A) c.1492T>A (p.Ser498Thr) c.1552T>A (p.Ser518Thr) n.1428T>A c.1474T>A (p.Ser492Thr) c.1744T>A (p.Ser582Thr) c.1753T>A (p.Ser585Thr) c.1099T>A (p.Ser367Thr) c.1543T>A (p.Ser515Thr) | ClinVar |
9 | g.135770045T>C | CA375506037 | KCNT1 | c.1609T>C (p.Ser537Pro) c.1450T>C (p.Ser484Pro) c.1357T>C (p.Ser453Pro) c.1366T>C (p.Ser456Pro) c.1510T>C (p.Ser504Pro) c.*1219T>C (n.*1219T>C) c.1492T>C (p.Ser498Pro) c.1552T>C (p.Ser518Pro) n.1428T>C c.1474T>C (p.Ser492Pro) c.1744T>C (p.Ser582Pro) c.1753T>C (p.Ser585Pro) c.1099T>C (p.Ser367Pro) c.1543T>C (p.Ser515Pro) | gnomAD v4 |
9 | g.135770045T>G | CA375506035 | KCNT1 | c.1609T>G (p.Ser537Ala) c.1450T>G (p.Ser484Ala) c.1357T>G (p.Ser453Ala) c.1366T>G (p.Ser456Ala) c.1510T>G (p.Ser504Ala) c.*1219T>G (n.*1219T>G) c.1492T>G (p.Ser498Ala) c.1552T>G (p.Ser518Ala) n.1428T>G c.1474T>G (p.Ser492Ala) c.1744T>G (p.Ser582Ala) c.1753T>G (p.Ser585Ala) c.1099T>G (p.Ser367Ala) c.1543T>G (p.Ser515Ala) | dbSNP |
9 | g.135770045T= | CA1883872597 | KCNT1 | c.1609T= (p.Ser537=) c.1450T= (p.Ser484=) c.1357T= (p.Ser453=) c.1366T= (p.Ser456=) c.1510T= (p.Ser504=) c.*1219T= (n.*1219T=) c.1492T= (p.Ser498=) c.1552T= (p.Ser518=) n.1428T= c.1474T= (p.Ser492=) c.1744T= (p.Ser582=) c.1753T= (p.Ser585=) c.1099T= (p.Ser367=) c.1543T= (p.Ser515=) | |
9 | g.135770046C>A | CA375506038 | KCNT1 | c.1610C>A (p.Ser537Tyr) c.1451C>A (p.Ser484Tyr) c.1358C>A (p.Ser453Tyr) c.1367C>A (p.Ser456Tyr) c.1511C>A (p.Ser504Tyr) c.*1220C>A (n.*1220C>A) c.1493C>A (p.Ser498Tyr) c.1553C>A (p.Ser518Tyr) n.1429C>A c.1475C>A (p.Ser492Tyr) c.1745C>A (p.Ser582Tyr) c.1754C>A (p.Ser585Tyr) c.1100C>A (p.Ser367Tyr) c.1544C>A (p.Ser515Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.135770046C= | CA1883872604 | KCNT1 | c.1610C= (p.Ser537=) c.1451C= (p.Ser484=) c.1358C= (p.Ser453=) c.1367C= (p.Ser456=) c.1511C= (p.Ser504=) c.*1220C= (n.*1220C=) c.1493C= (p.Ser498=) c.1553C= (p.Ser518=) n.1429C= c.1475C= (p.Ser492=) c.1745C= (p.Ser582=) c.1754C= (p.Ser585=) c.1100C= (p.Ser367=) c.1544C= (p.Ser515=) | |
9 | g.135770046C>G | CA375506039 | KCNT1 | c.1610C>G (p.Ser537Cys) c.1451C>G (p.Ser484Cys) c.1358C>G (p.Ser453Cys) c.1367C>G (p.Ser456Cys) c.1511C>G (p.Ser504Cys) c.*1220C>G (n.*1220C>G) c.1493C>G (p.Ser498Cys) c.1553C>G (p.Ser518Cys) n.1429C>G c.1475C>G (p.Ser492Cys) c.1745C>G (p.Ser582Cys) c.1754C>G (p.Ser585Cys) c.1100C>G (p.Ser367Cys) c.1544C>G (p.Ser515Cys) | |
9 | g.135770046C>T | CA375506040 | KCNT1 | c.1610C>T (p.Ser537Phe) c.1451C>T (p.Ser484Phe) c.1358C>T (p.Ser453Phe) c.1367C>T (p.Ser456Phe) c.1511C>T (p.Ser504Phe) c.*1220C>T (n.*1220C>T) c.1493C>T (p.Ser498Phe) c.1553C>T (p.Ser518Phe) n.1429C>T c.1475C>T (p.Ser492Phe) c.1745C>T (p.Ser582Phe) c.1754C>T (p.Ser585Phe) c.1100C>T (p.Ser367Phe) c.1544C>T (p.Ser515Phe) | |
9 | g.135770047C>A | CA467698442 | KCNT1 | c.1611C>A (p.Ser537=) c.1452C>A (p.Ser484=) c.1359C>A (p.Ser453=) c.1368C>A (p.Ser456=) c.1512C>A (p.Ser504=) c.*1221C>A (n.*1221C>A) c.1494C>A (p.Ser498=) c.1554C>A (p.Ser518=) n.1430C>A c.1476C>A (p.Ser492=) c.1746C>A (p.Ser582=) c.1755C>A (p.Ser585=) c.1101C>A (p.Ser367=) c.1545C>A (p.Ser515=) | gnomAD v4 |
9 | g.135770047C>G | CA467698441 | KCNT1 | c.1611C>G (p.Ser537=) c.1452C>G (p.Ser484=) c.1359C>G (p.Ser453=) c.1368C>G (p.Ser456=) c.1512C>G (p.Ser504=) c.*1221C>G (n.*1221C>G) c.1494C>G (p.Ser498=) c.1554C>G (p.Ser518=) n.1430C>G c.1476C>G (p.Ser492=) c.1746C>G (p.Ser582=) c.1755C>G (p.Ser585=) c.1101C>G (p.Ser367=) c.1545C>G (p.Ser515=) | ClinVar dbSNP gnomAD v4 |
9 | g.135770047C>T | CA467698440 | KCNT1 | c.1611C>T (p.Ser537=) c.1452C>T (p.Ser484=) c.1359C>T (p.Ser453=) c.1368C>T (p.Ser456=) c.1512C>T (p.Ser504=) c.*1221C>T (n.*1221C>T) c.1494C>T (p.Ser498=) c.1554C>T (p.Ser518=) n.1430C>T c.1476C>T (p.Ser492=) c.1746C>T (p.Ser582=) c.1755C>T (p.Ser585=) c.1101C>T (p.Ser367=) c.1545C>T (p.Ser515=) | gnomAD v4 |
9 | g.135770048C>A | CA375506041 | KCNT1 | c.1612C>A (p.Arg538Ser) c.1453C>A (p.Arg485Ser) c.1360C>A (p.Arg454Ser) c.1369C>A (p.Arg457Ser) c.1513C>A (p.Arg505Ser) c.*1222C>A (n.*1222C>A) c.1495C>A (p.Arg499Ser) c.1555C>A (p.Arg519Ser) n.1431C>A c.1477C>A (p.Arg493Ser) c.1747C>A (p.Arg583Ser) c.1756C>A (p.Arg586Ser) c.1102C>A (p.Arg368Ser) c.1546C>A (p.Arg516Ser) | ClinVar dbSNP gnomAD v4 |
9 | g.135770048C= | CA1883872608 | KCNT1 | c.1612C= (p.Arg538=) c.1453C= (p.Arg485=) c.1360C= (p.Arg454=) c.1369C= (p.Arg457=) c.1513C= (p.Arg505=) c.*1222C= (n.*1222C=) c.1495C= (p.Arg499=) c.1555C= (p.Arg519=) n.1431C= c.1477C= (p.Arg493=) c.1747C= (p.Arg583=) c.1756C= (p.Arg586=) c.1102C= (p.Arg368=) c.1546C= (p.Arg516=) | |
9 | g.135770048C>G | CA375506042 | KCNT1 | c.1612C>G (p.Arg538Gly) c.1453C>G (p.Arg485Gly) c.1360C>G (p.Arg454Gly) c.1369C>G (p.Arg457Gly) c.1513C>G (p.Arg505Gly) c.*1222C>G (n.*1222C>G) c.1495C>G (p.Arg499Gly) c.1555C>G (p.Arg519Gly) n.1431C>G c.1477C>G (p.Arg493Gly) c.1747C>G (p.Arg583Gly) c.1756C>G (p.Arg586Gly) c.1102C>G (p.Arg368Gly) c.1546C>G (p.Arg516Gly) | gnomAD v4 |
9 | g.135770048C>T | CA5326971 | KCNT1 | c.1612C>T (p.Arg538Cys) c.1453C>T (p.Arg485Cys) c.1360C>T (p.Arg454Cys) c.1369C>T (p.Arg457Cys) c.1513C>T (p.Arg505Cys) c.*1222C>T (n.*1222C>T) c.1495C>T (p.Arg499Cys) c.1555C>T (p.Arg519Cys) n.1431C>T c.1477C>T (p.Arg493Cys) c.1747C>T (p.Arg583Cys) c.1756C>T (p.Arg586Cys) c.1102C>T (p.Arg368Cys) c.1546C>T (p.Arg516Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.135770049G>A | CA5326972 | KCNT1 | c.1613G>A (p.Arg538His) c.1454G>A (p.Arg485His) c.1361G>A (p.Arg454His) c.1370G>A (p.Arg457His) c.1514G>A (p.Arg505His) c.*1223G>A (n.*1223G>A) c.1496G>A (p.Arg499His) c.1556G>A (p.Arg519His) n.1432G>A c.1478G>A (p.Arg493His) c.1748G>A (p.Arg583His) c.1757G>A (p.Arg586His) c.1103G>A (p.Arg368His) c.1547G>A (p.Arg516His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135770049G>C | CA375506044 | KCNT1 | c.1613G>C (p.Arg538Pro) c.1454G>C (p.Arg485Pro) c.1361G>C (p.Arg454Pro) c.1370G>C (p.Arg457Pro) c.1514G>C (p.Arg505Pro) c.*1223G>C (n.*1223G>C) c.1496G>C (p.Arg499Pro) c.1556G>C (p.Arg519Pro) n.1432G>C c.1478G>C (p.Arg493Pro) c.1748G>C (p.Arg583Pro) c.1757G>C (p.Arg586Pro) c.1103G>C (p.Arg368Pro) c.1547G>C (p.Arg516Pro) | |
9 | g.135770049G= | CA1883872615 | KCNT1 | c.1613G= (p.Arg538=) c.1454G= (p.Arg485=) c.1361G= (p.Arg454=) c.1370G= (p.Arg457=) c.1514G= (p.Arg505=) c.*1223G= (n.*1223G=) c.1496G= (p.Arg499=) c.1556G= (p.Arg519=) n.1432G= c.1478G= (p.Arg493=) c.1748G= (p.Arg583=) c.1757G= (p.Arg586=) c.1103G= (p.Arg368=) c.1547G= (p.Arg516=) | |
9 | g.135770049G>T | CA375506043 | KCNT1 | c.1613G>T (p.Arg538Leu) c.1454G>T (p.Arg485Leu) c.1361G>T (p.Arg454Leu) c.1370G>T (p.Arg457Leu) c.1514G>T (p.Arg505Leu) c.*1223G>T (n.*1223G>T) c.1496G>T (p.Arg499Leu) c.1556G>T (p.Arg519Leu) n.1432G>T c.1478G>T (p.Arg493Leu) c.1748G>T (p.Arg583Leu) c.1757G>T (p.Arg586Leu) c.1103G>T (p.Arg368Leu) c.1547G>T (p.Arg516Leu) | gnomAD v4 |
9 | g.135770050C>A | CA467698443 | KCNT1 | c.1614C>A (p.Arg538=) c.1455C>A (p.Arg485=) c.1362C>A (p.Arg454=) c.1371C>A (p.Arg457=) c.1515C>A (p.Arg505=) c.*1224C>A (n.*1224C>A) c.1497C>A (p.Arg499=) c.1557C>A (p.Arg519=) n.1433C>A c.1479C>A (p.Arg493=) c.1749C>A (p.Arg583=) c.1758C>A (p.Arg586=) c.1104C>A (p.Arg368=) c.1548C>A (p.Arg516=) | gnomAD v4 |
9 | g.135770050C= | CA1883872622 | KCNT1 | c.1614C= (p.Arg538=) c.1455C= (p.Arg485=) c.1362C= (p.Arg454=) c.1371C= (p.Arg457=) c.1515C= (p.Arg505=) c.*1224C= (n.*1224C=) c.1497C= (p.Arg499=) c.1557C= (p.Arg519=) n.1433C= c.1479C= (p.Arg493=) c.1749C= (p.Arg583=) c.1758C= (p.Arg586=) c.1104C= (p.Arg368=) c.1548C= (p.Arg516=) | |
9 | g.135770050C>G | CA467698444 | KCNT1 | c.1614C>G (p.Arg538=) c.1455C>G (p.Arg485=) c.1362C>G (p.Arg454=) c.1371C>G (p.Arg457=) c.1515C>G (p.Arg505=) c.*1224C>G (n.*1224C>G) c.1497C>G (p.Arg499=) c.1557C>G (p.Arg519=) n.1433C>G c.1479C>G (p.Arg493=) c.1749C>G (p.Arg583=) c.1758C>G (p.Arg586=) c.1104C>G (p.Arg368=) c.1548C>G (p.Arg516=) | |
9 | g.135770050C>T | CA5326973 | KCNT1 | c.1614C>T (p.Arg538=) c.1455C>T (p.Arg485=) c.1362C>T (p.Arg454=) c.1371C>T (p.Arg457=) c.1515C>T (p.Arg505=) c.*1224C>T (n.*1224C>T) c.1497C>T (p.Arg499=) c.1557C>T (p.Arg519=) n.1433C>T c.1479C>T (p.Arg493=) c.1749C>T (p.Arg583=) c.1758C>T (p.Arg586=) c.1104C>T (p.Arg368=) c.1548C>T (p.Arg516=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135770051G>A | CA201472713 | KCNT1 | c.1615G>A (p.Gly539Ser) c.1456G>A (p.Gly486Ser) c.1363G>A (p.Gly455Ser) c.1372G>A (p.Gly458Ser) c.1516G>A (p.Gly506Ser) c.*1225G>A (n.*1225G>A) c.1498G>A (p.Gly500Ser) c.1558G>A (p.Gly520Ser) n.1434G>A c.1480G>A (p.Gly494Ser) c.1750G>A (p.Gly584Ser) c.1759G>A (p.Gly587Ser) c.1105G>A (p.Gly369Ser) c.1549G>A (p.Gly517Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135770051G>C | CA375506045 | KCNT1 | c.1615G>C (p.Gly539Arg) c.1456G>C (p.Gly486Arg) c.1363G>C (p.Gly455Arg) c.1372G>C (p.Gly458Arg) c.1516G>C (p.Gly506Arg) c.*1225G>C (n.*1225G>C) c.1498G>C (p.Gly500Arg) c.1558G>C (p.Gly520Arg) n.1434G>C c.1480G>C (p.Gly494Arg) c.1750G>C (p.Gly584Arg) c.1759G>C (p.Gly587Arg) c.1105G>C (p.Gly369Arg) c.1549G>C (p.Gly517Arg) | |
9 | g.135770051G= | CA1883872631 | KCNT1 | c.1615G= (p.Gly539=) c.1456G= (p.Gly486=) c.1363G= (p.Gly455=) c.1372G= (p.Gly458=) c.1516G= (p.Gly506=) c.*1225G= (n.*1225G=) c.1498G= (p.Gly500=) c.1558G= (p.Gly520=) n.1434G= c.1480G= (p.Gly494=) c.1750G= (p.Gly584=) c.1759G= (p.Gly587=) c.1105G= (p.Gly369=) c.1549G= (p.Gly517=) | |
9 | g.135770051G>T | CA375506046 | KCNT1 | c.1615G>T (p.Gly539Cys) c.1456G>T (p.Gly486Cys) c.1363G>T (p.Gly455Cys) c.1372G>T (p.Gly458Cys) c.1516G>T (p.Gly506Cys) c.*1225G>T (n.*1225G>T) c.1498G>T (p.Gly500Cys) c.1558G>T (p.Gly520Cys) n.1434G>T c.1480G>T (p.Gly494Cys) c.1750G>T (p.Gly584Cys) c.1759G>T (p.Gly587Cys) c.1105G>T (p.Gly369Cys) c.1549G>T (p.Gly517Cys) | gnomAD v4 |
9 | g.135770052del | CA2692518277 | KCNT1 | c.1616del (p.Gly539AlafsTer?) c.1457del (p.Gly486AlafsTer?) c.1364del (p.Gly455AlafsTer?) c.1373del (p.Gly458AlafsTer?) c.1517del (p.Gly506AlafsTer?) c.*1226del (n.*1226del) c.1499del (p.Gly500AlafsTer?) c.1559del (p.Gly520AlafsTer?) n.1435del c.1481del (p.Gly494AlafsTer?) c.1751del (p.Gly584AlafsTer?) c.1760del (p.Gly587AlafsTer?) c.1106del (p.Gly369AlafsTer?) c.1550del (p.Gly517AlafsTer?) | gnomAD v4 |
9 | g.135770052G>A | CA375506049 | KCNT1 | c.1616G>A (p.Gly539Asp) c.1457G>A (p.Gly486Asp) c.1364G>A (p.Gly455Asp) c.1373G>A (p.Gly458Asp) c.1517G>A (p.Gly506Asp) c.*1226G>A (n.*1226G>A) c.1499G>A (p.Gly500Asp) c.1559G>A (p.Gly520Asp) n.1435G>A c.1481G>A (p.Gly494Asp) c.1751G>A (p.Gly584Asp) c.1760G>A (p.Gly587Asp) c.1106G>A (p.Gly369Asp) c.1550G>A (p.Gly517Asp) | gnomAD v4 |
9 | g.135770052G>C | CA375506048 | KCNT1 | c.1616G>C (p.Gly539Ala) c.1457G>C (p.Gly486Ala) c.1364G>C (p.Gly455Ala) c.1373G>C (p.Gly458Ala) c.1517G>C (p.Gly506Ala) c.*1226G>C (n.*1226G>C) c.1499G>C (p.Gly500Ala) c.1559G>C (p.Gly520Ala) n.1435G>C c.1481G>C (p.Gly494Ala) c.1751G>C (p.Gly584Ala) c.1760G>C (p.Gly587Ala) c.1106G>C (p.Gly369Ala) c.1550G>C (p.Gly517Ala) | gnomAD v4 |
9 | g.135770052G= | CA1883872634 | KCNT1 | c.1616G= (p.Gly539=) c.1457G= (p.Gly486=) c.1364G= (p.Gly455=) c.1373G= (p.Gly458=) c.1517G= (p.Gly506=) c.*1226G= (n.*1226G=) c.1499G= (p.Gly500=) c.1559G= (p.Gly520=) n.1435G= c.1481G= (p.Gly494=) c.1751G= (p.Gly584=) c.1760G= (p.Gly587=) c.1106G= (p.Gly369=) c.1550G= (p.Gly517=) | |
9 | g.135770052G>T | CA375506047 | KCNT1 | c.1616G>T (p.Gly539Val) c.1457G>T (p.Gly486Val) c.1364G>T (p.Gly455Val) c.1373G>T (p.Gly458Val) c.1517G>T (p.Gly506Val) c.*1226G>T (n.*1226G>T) c.1499G>T (p.Gly500Val) c.1559G>T (p.Gly520Val) n.1435G>T c.1481G>T (p.Gly494Val) c.1751G>T (p.Gly584Val) c.1760G>T (p.Gly587Val) c.1106G>T (p.Gly369Val) c.1550G>T (p.Gly517Val) | gnomAD v4 |
9 | g.135770053C>A | CA467698446 | KCNT1 | c.1617C>A (p.Gly539=) c.1458C>A (p.Gly486=) c.1365C>A (p.Gly455=) c.1374C>A (p.Gly458=) c.1518C>A (p.Gly506=) c.*1227C>A (n.*1227C>A) c.1500C>A (p.Gly500=) c.1560C>A (p.Gly520=) n.1436C>A c.1482C>A (p.Gly494=) c.1752C>A (p.Gly584=) c.1761C>A (p.Gly587=) c.1107C>A (p.Gly369=) c.1551C>A (p.Gly517=) | gnomAD v4 |
9 | g.135770053C>G | CA467698447 | KCNT1 | c.1617C>G (p.Gly539=) c.1458C>G (p.Gly486=) c.1365C>G (p.Gly455=) c.1374C>G (p.Gly458=) c.1518C>G (p.Gly506=) c.*1227C>G (n.*1227C>G) c.1500C>G (p.Gly500=) c.1560C>G (p.Gly520=) n.1436C>G c.1482C>G (p.Gly494=) c.1752C>G (p.Gly584=) c.1761C>G (p.Gly587=) c.1107C>G (p.Gly369=) c.1551C>G (p.Gly517=) | gnomAD v4 |
9 | g.135770053C>T | CA467698448 | KCNT1 | c.1617C>T (p.Gly539=) c.1458C>T (p.Gly486=) c.1365C>T (p.Gly455=) c.1374C>T (p.Gly458=) c.1518C>T (p.Gly506=) c.*1227C>T (n.*1227C>T) c.1500C>T (p.Gly500=) c.1560C>T (p.Gly520=) n.1436C>T c.1482C>T (p.Gly494=) c.1752C>T (p.Gly584=) c.1761C>T (p.Gly587=) c.1107C>T (p.Gly369=) c.1551C>T (p.Gly517=) | gnomAD v4 |
9 | g.135770055_135770072dup | CA591146011 | KCNT1 | c.1619_1619+17dup c.1460_1460+17dup c.1367_1367+17dup c.1376_1376+17dup c.1520_1520+17dup c.*1229_*1229+17dup c.1502_1502+17dup c.1562_1562+17dup n.1438_1438+17dup c.1484_1484+17dup c.1754_1754+17dup c.1763_1763+17dup c.1109_1109+17dup c.1553_1553+17dup | dbSNP gnomAD v2 gnomAD v4 |