Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.6182027C>ACA362737312F13A1c.1420G>T (p.Gly474Cys)
c.1582G>T (p.Gly528Cys)
6g.6182027C=CA1607973389F13A1c.1420G= (p.Gly474=)
c.1582G= (p.Gly528=)
6g.6182027C>GCA362737318F13A1c.1420G>C (p.Gly474Arg)
c.1582G>C (p.Gly528Arg)
6g.6182027C>TCA362737316F13A1c.1420G>A (p.Gly474Ser)
c.1582G>A (p.Gly528Ser)
dbSNP
6g.6182028A=CA1607973390F13A1c.1419T= (p.Asp473=)
c.1581T= (p.Asp527=)
6g.6182028A>CCA362737320F13A1c.1419T>G (p.Asp473Glu)
c.1581T>G (p.Asp527Glu)
6g.6182028A>GCA3624357F13A1c.1419T>C (p.Asp473=)
c.1581T>C (p.Asp527=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6182028A>TCA362737321F13A1c.1419T>A (p.Asp473Glu)
c.1581T>A (p.Asp527Glu)
6g.6182029T>ACA362737323F13A1c.1418A>T (p.Asp473Val)
c.1580A>T (p.Asp527Val)
6g.6182029T>CCA362737326F13A1c.1418A>G (p.Asp473Gly)
c.1580A>G (p.Asp527Gly)
6g.6182029T>GCA362737324F13A1c.1418A>C (p.Asp473Ala)
c.1580A>C (p.Asp527Ala)
6g.6182030C>ACA362737328F13A1c.1417G>T (p.Asp473Tyr)
c.1579G>T (p.Asp527Tyr)
6g.6182030C>GCA362737331F13A1c.1417G>C (p.Asp473His)
c.1579G>C (p.Asp527His)
6g.6182030C>TCA362737330F13A1c.1417G>A (p.Asp473Asn)
c.1579G>A (p.Asp527Asn)
gnomAD v4
6g.6182031T>ACA448640488F13A1c.1416A>T (p.Gly472=)
c.1578A>T (p.Gly526=)
6g.6182031T>CCA448640489F13A1c.1416A>G (p.Gly472=)
c.1578A>G (p.Gly526=)
6g.6182031T>GCA448640490F13A1c.1416A>C (p.Gly472=)
c.1578A>C (p.Gly526=)
6g.6182032C>ACA362737332F13A1c.1415G>T (p.Gly472Val)
c.1577G>T (p.Gly526Val)
6g.6182032C>GCA362737333F13A1c.1415G>C (p.Gly472Ala)
c.1577G>C (p.Gly526Ala)
6g.6182032C>TCA362737336F13A1c.1415G>A (p.Gly472Glu)
c.1577G>A (p.Gly526Glu)
6g.6182033C>ACA362737338F13A1c.1414G>T (p.Gly472Ter)
c.1576G>T (p.Gly526Ter)
6g.6182033C>GCA362737340F13A1c.1414G>C (p.Gly472Arg)
c.1576G>C (p.Gly526Arg)
6g.6182033C>TCA362737341F13A1c.1414G>A (p.Gly472Arg)
c.1576G>A (p.Gly526Arg)
6g.6182034T>ACA448640491F13A1c.1413A>T (p.Gly471=)
c.1575A>T (p.Gly525=)
6g.6182034T>CCA448640493F13A1c.1413A>G (p.Gly471=)
c.1575A>G (p.Gly525=)
6g.6182034T>GCA448640492F13A1c.1413A>C (p.Gly471=)
c.1575A>C (p.Gly525=)
6g.6182035C>ACA362737343F13A1c.1412G>T (p.Gly471Val)
c.1574G>T (p.Gly525Val)
6g.6182035C>GCA362737344F13A1c.1412G>C (p.Gly471Ala)
c.1574G>C (p.Gly525Ala)
6g.6182035C>TCA362737345F13A1c.1412G>A (p.Gly471Glu)
c.1574G>A (p.Gly525Glu)
6g.6182036C>ACA362737346F13A1c.1411G>T (p.Gly471Ter)
c.1573G>T (p.Gly525Ter)
6g.6182036C>GCA362737347F13A1c.1411G>C (p.Gly471Arg)
c.1573G>C (p.Gly525Arg)
6g.6182036C>TCA362737348F13A1c.1411G>A (p.Gly471Arg)
c.1573G>A (p.Gly525Arg)
ClinVar
6g.6182037A>CCA362737350F13A1c.1410T>G (p.Ile470Met)
c.1572T>G (p.Ile524Met)
6g.6182037A>GCA448640494F13A1c.1410T>C (p.Ile470=)
c.1572T>C (p.Ile524=)
gnomAD v4
6g.6182037A>TCA448640495F13A1c.1410T>A (p.Ile470=)
c.1572T>A (p.Ile524=)
6g.6182038A>CCA362737352F13A1c.1409T>G (p.Ile470Ser)
c.1571T>G (p.Ile524Ser)
6g.6182038A>GCA362737353F13A1c.1409T>C (p.Ile470Thr)
c.1571T>C (p.Ile524Thr)
6g.6182038A>TCA362737357F13A1c.1409T>A (p.Ile470Asn)
c.1571T>A (p.Ile524Asn)
6g.6182038_6182042delinsATTTGCA1607973391F13A1c.1405_1409delinsCAAAT (p.Gln469=)
c.1567_1571delinsCAAAT (p.Gln523=)
6g.6182039T>ACA362737362F13A1c.1408A>T (p.Ile470Phe)
c.1570A>T (p.Ile524Phe)
6g.6182039T>CCA362737363F13A1c.1408A>G (p.Ile470Val)
c.1570A>G (p.Ile524Val)
6g.6182039T>GCA362737364F13A1c.1408A>C (p.Ile470Leu)
c.1570A>C (p.Ile524Leu)
6g.6182043_6182046delCA913184712F13A1c.1405_1408del (p.Gln469LeufsTer6)
c.1567_1570del (p.Gln523LeufsTer6)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.6182040T>ACA362737366F13A1c.1407A>T (p.Gln469His)
c.1569A>T (p.Gln523His)
6g.6182040T>CCA448640497F13A1c.1407A>G (p.Gln469=)
c.1569A>G (p.Gln523=)
6g.6182040T>GCA362737367F13A1c.1407A>C (p.Gln469His)
c.1569A>C (p.Gln523His)
6g.6182041T>ACA362737369F13A1c.1406A>T (p.Gln469Leu)
c.1568A>T (p.Gln523Leu)
6g.6182041T>CCA362737370F13A1c.1406A>G (p.Gln469Arg)
c.1568A>G (p.Gln523Arg)
gnomAD v4
6g.6182041T>GCA362737375F13A1c.1406A>C (p.Gln469Pro)
c.1568A>C (p.Gln523Pro)
6g.6182042G>ACA362737384F13A1c.1405C>T (p.Gln469Ter)
c.1567C>T (p.Gln523Ter)
dbSNP gnomAD v2 gnomAD v4
6g.6182042G>CCA134386667F13A1c.1405C>G (p.Gln469Glu)
c.1567C>G (p.Gln523Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.6182042G=CA1607973392F13A1c.1405C= (p.Gln469=)
c.1567C= (p.Gln523=)
6g.6182042G>TCA3624358F13A1c.1405C>A (p.Gln469Lys)
c.1567C>A (p.Gln523Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6182043T>ACA362737385F13A1c.1404A>T (p.Lys468Asn)
c.1566A>T (p.Lys522Asn)
6g.6182043T>CCA448640498F13A1c.1404A>G (p.Lys468=)
c.1566A>G (p.Lys522=)
6g.6182043T>GCA362737388F13A1c.1404A>C (p.Lys468Asn)
c.1566A>C (p.Lys522Asn)
6g.6182045dupCA2677190769F13A1c.1404dup (p.Gln469ThrfsTer12)
c.1566dup (p.Gln523ThrfsTer12)
gnomAD v4
6g.6182044T>ACA362737390F13A1c.1403A>T (p.Lys468Ile)
c.1565A>T (p.Lys522Ile)
6g.6182044T>CCA134386668F13A1c.1403A>G (p.Lys468Arg)
c.1565A>G (p.Lys522Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.6182044T>GCA362737393F13A1c.1403A>C (p.Lys468Thr)
c.1565A>C (p.Lys522Thr)
gnomAD v4
6g.6182044T=CA1607973393F13A1c.1403A= (p.Lys468=)
c.1565A= (p.Lys522=)
6g.6182045T>ACA362737395F13A1c.1402A>T (p.Lys468Ter)
c.1564A>T (p.Lys522Ter)
6g.6182045T>CCA362737396F13A1c.1402A>G (p.Lys468Glu)
c.1564A>G (p.Lys522Glu)
6g.6182045T>GCA362737397F13A1c.1402A>C (p.Lys468Gln)
c.1564A>C (p.Lys522Gln)
6g.6182046G>ACA134386669F13A1c.1401C>T (p.Thr467=)
c.1563C>T (p.Thr521=)
dbSNP gnomAD v4
6g.6182046G>CCA448640499F13A1c.1401C>G (p.Thr467=)
c.1563C>G (p.Thr521=)
6g.6182046G=CA1607973394F13A1c.1401C= (p.Thr467=)
c.1563C= (p.Thr521=)
6g.6182046G>TCA448640500F13A1c.1401C>A (p.Thr467=)
c.1563C>A (p.Thr521=)
6g.6182047G>ACA362737398F13A1c.1400C>T (p.Thr467Ile)
c.1562C>T (p.Thr521Ile)
6g.6182047G>CCA362737399F13A1c.1400C>G (p.Thr467Ser)
c.1562C>G (p.Thr521Ser)
6g.6182047G>TCA362737400F13A1c.1400C>A (p.Thr467Asn)
c.1562C>A (p.Thr521Asn)
6g.6182048T>ACA362737404F13A1c.1399A>T (p.Thr467Ser)
c.1561A>T (p.Thr521Ser)
6g.6182048T>CCA362737403F13A1c.1399A>G (p.Thr467Ala)
c.1561A>G (p.Thr521Ala)
6g.6182048T>GCA362737401F13A1c.1399A>C (p.Thr467Pro)
c.1561A>C (p.Thr521Pro)
6g.6182049C>ACA448640501F13A1c.1398G>T (p.Val466=)
c.1560G>T (p.Val520=)
6g.6182049C>GCA448640502F13A1c.1398G>C (p.Val466=)
c.1560G>C (p.Val520=)
6g.6182049C>TCA448640503F13A1c.1398G>A (p.Val466=)
c.1560G>A (p.Val520=)
6g.6182050A>CCA362737406F13A1c.1397T>G (p.Val466Gly)
c.1559T>G (p.Val520Gly)
6g.6182050A>GCA362737408F13A1c.1397T>C (p.Val466Ala)
c.1559T>C (p.Val520Ala)
6g.6182050A>TCA362737410F13A1c.1397T>A (p.Val466Glu)
c.1559T>A (p.Val520Glu)
6g.6182051C>ACA362737411F13A1c.1396G>T (p.Val466Leu)
c.1558G>T (p.Val520Leu)
6g.6182051C>GCA362737413F13A1c.1396G>C (p.Val466Leu)
c.1558G>C (p.Val520Leu)
6g.6182051C>TCA362737418F13A1c.1396G>A (p.Val466Met)
c.1558G>A (p.Val520Met)
gnomAD v4
6g.6182052A=CA1607973395F13A1c.1395T= (p.Ile465=)
c.1557T= (p.Ile519=)
6g.6182052A>CCA362737419F13A1c.1395T>G (p.Ile465Met)
c.1557T>G (p.Ile519Met)
6g.6182052A>GCA448640504F13A1c.1395T>C (p.Ile465=)
c.1557T>C (p.Ile519=)
6g.6182052A>TCA448640505F13A1c.1395T>A (p.Ile465=)
c.1557T>A (p.Ile519=)
dbSNP
6g.6182056_6182059delCA891866560F13A1c.1392_1395del (p.Ile465Ter)
c.1554_1557del (p.Ile519Ter)
6g.6182053A=CA1607973396F13A1c.1394T= (p.Ile465=)
c.1556T= (p.Ile519=)
6g.6182053A>CCA362737421F13A1c.1394T>G (p.Ile465Ser)
c.1556T>G (p.Ile519Ser)
6g.6182053A>GCA362737423F13A1c.1394T>C (p.Ile465Thr)
c.1556T>C (p.Ile519Thr)
dbSNP gnomAD v3 gnomAD v4
6g.6182053A>TCA362737425F13A1c.1394T>A (p.Ile465Asn)
c.1556T>A (p.Ile519Asn)
6g.6182054T>ACA362737426F13A1c.1393A>T (p.Ile465Phe)
c.1555A>T (p.Ile519Phe)
6g.6182054T>CCA362737427F13A1c.1393A>G (p.Ile465Val)
c.1555A>G (p.Ile519Val)
6g.6182054T>GCA362737429F13A1c.1393A>C (p.Ile465Leu)
c.1555A>C (p.Ile519Leu)
6g.6182055T>ACA362737432F13A1c.1392A>T (p.Leu464Phe)
c.1554A>T (p.Leu518Phe)
6g.6182055T>CCA448640506F13A1c.1392A>G (p.Leu464=)
c.1554A>G (p.Leu518=)
6g.6182055T>GCA362737431F13A1c.1392A>C (p.Leu464Phe)
c.1554A>C (p.Leu518Phe)
6g.6182056A>CCA362737434F13A1c.1391T>G (p.Leu464Ter)
c.1553T>G (p.Leu518Ter)
6g.6182056A>GCA362737439F13A1c.1391T>C (p.Leu464Ser)
c.1553T>C (p.Leu518Ser)
6g.6182056A>TCA362737438F13A1c.1391T>A (p.Leu464Ter)
c.1553T>A (p.Leu518Ter)
6g.6182057A=CA1607973397F13A1c.1390T= (p.Leu464=)
c.1552T= (p.Leu518=)
6g.6182057A>CCA3624359F13A1c.1390T>G (p.Leu464Val)
c.1552T>G (p.Leu518Val)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6182057A>GCA448640507F13A1c.1390T>C (p.Leu464=)
c.1552T>C (p.Leu518=)
6g.6182057A>TCA362737440F13A1c.1390T>A (p.Leu464Ile)
c.1552T>A (p.Leu518Ile)
6g.6182058T>ACA362737442F13A1c.1389A>T (p.Lys463Asn)
c.1551A>T (p.Lys517Asn)
6g.6182058T>CCA448640508F13A1c.1389A>G (p.Lys463=)
c.1551A>G (p.Lys517=)
6g.6182058T>GCA362737444F13A1c.1389A>C (p.Lys463Asn)
c.1551A>C (p.Lys517Asn)
6g.6182059T>ACA362737446F13A1c.1388A>T (p.Lys463Ile)
c.1550A>T (p.Lys517Ile)
6g.6182059T>CCA362737448F13A1c.1388A>G (p.Lys463Arg)
c.1550A>G (p.Lys517Arg)
6g.6182059T>GCA362737450F13A1c.1388A>C (p.Lys463Thr)
c.1550A>C (p.Lys517Thr)
6g.6182060T>ACA362737451F13A1c.1387A>T (p.Lys463Ter)
c.1549A>T (p.Lys517Ter)
COSMIC
6g.6182060T>CCA362737453F13A1c.1387A>G (p.Lys463Glu)
c.1549A>G (p.Lys517Glu)
6g.6182060T>GCA362737454F13A1c.1387A>C (p.Lys463Gln)
c.1549A>C (p.Lys517Gln)
6g.6182061C>ACA448640509F13A1c.1386G>T (p.Gly462=)
c.1548G>T (p.Gly516=)
COSMIC
6g.6182061C=CA1607973398F13A1c.1386G= (p.Gly462=)
c.1548G= (p.Gly516=)
6g.6182061C>GCA448640511F13A1c.1386G>C (p.Gly462=)
c.1548G>C (p.Gly516=)
6g.6182061C>TCA448640510F13A1c.1386G>A (p.Gly462=)
c.1548G>A (p.Gly516=)
dbSNP gnomAD v2 gnomAD v4
6g.6182062C>ACA362737459F13A1c.1385G>T (p.Gly462Val)
c.1547G>T (p.Gly516Val)
COSMIC
6g.6182062C>GCA362737458F13A1c.1385G>C (p.Gly462Ala)
c.1547G>C (p.Gly516Ala)
6g.6182062C>TCA362737456F13A1c.1385G>A (p.Gly462Glu)
c.1547G>A (p.Gly516Glu)
gnomAD v4
6g.6182063C>ACA362737464F13A1c.1384G>T (p.Gly462Trp)
c.1546G>T (p.Gly516Trp)
COSMIC
6g.6182063C>GCA362737466F13A1c.1384G>C (p.Gly462Arg)
c.1546G>C (p.Gly516Arg)
6g.6182063C>TCA362737467F13A1c.1384G>A (p.Gly462Arg)
c.1546G>A (p.Gly516Arg)
gnomAD v4
6g.6182064A>CCA362737468F13A1c.1383T>G (p.Ile461Met)
c.1545T>G (p.Ile515Met)
6g.6182064A>GCA448640512F13A1c.1383T>C (p.Ile461=)
c.1545T>C (p.Ile515=)
6g.6182064A>TCA448640513F13A1c.1383T>A (p.Ile461=)
c.1545T>A (p.Ile515=)
6g.6182065A=CA1607973399F13A1c.1382T= (p.Ile461=)
c.1544T= (p.Ile515=)
6g.6182065A>CCA362737470F13A1c.1382T>G (p.Ile461Ser)
c.1544T>G (p.Ile515Ser)
dbSNP
6g.6182065A>GCA3624360F13A1c.1382T>C (p.Ile461Thr)
c.1544T>C (p.Ile515Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6182065A>TCA362737471F13A1c.1382T>A (p.Ile461Asn)
c.1544T>A (p.Ile515Asn)
gnomAD v4
6g.6182066T>ACA362737474F13A1c.1381A>T (p.Ile461Phe)
c.1543A>T (p.Ile515Phe)
dbSNP
6g.6182066T>CCA362737475F13A1c.1381A>G (p.Ile461Val)
c.1543A>G (p.Ile515Val)
6g.6182066T>GCA362737477F13A1c.1381A>C (p.Ile461Leu)
c.1543A>C (p.Ile515Leu)
6g.6182066T=CA1607973400F13A1c.1381A= (p.Ile461=)
c.1543A= (p.Ile515=)
6g.6182067G>ACA448640514F13A1c.1380C>T (p.His460=)
c.1542C>T (p.His514=)
dbSNP
6g.6182067G>CCA362737478F13A1c.1380C>G (p.His460Gln)
c.1542C>G (p.His514Gln)
6g.6182067G=CA1607973401F13A1c.1380C= (p.His460=)
c.1542C= (p.His514=)
6g.6182067G>TCA362737480F13A1c.1380C>A (p.His460Gln)
c.1542C>A (p.His514Gln)
6g.6182068T>ACA362737483F13A1c.1379A>T (p.His460Leu)
c.1541A>T (p.His514Leu)
6g.6182068T>CCA362737484F13A1c.1379A>G (p.His460Arg)
c.1541A>G (p.His514Arg)
6g.6182068T>GCA362737481F13A1c.1379A>C (p.His460Pro)
c.1541A>C (p.His514Pro)
gnomAD v4
6g.6182069G>ACA362737486F13A1c.1378C>T (p.His460Tyr)
c.1540C>T (p.His514Tyr)
6g.6182069G>CCA362737488F13A1c.1378C>G (p.His460Asp)
c.1540C>G (p.His514Asp)
6g.6182069G>TCA362737489F13A1c.1378C>A (p.His460Asn)
c.1540C>A (p.His514Asn)
COSMIC
6g.6182070G>ACA448640515F13A1c.1377C>T (p.Thr459=)
c.1539C>T (p.Thr513=)
6g.6182070G>CCA448640516F13A1c.1377C>G (p.Thr459=)
c.1539C>G (p.Thr513=)
6g.6182070G>TCA448640517F13A1c.1377C>A (p.Thr459=)
c.1539C>A (p.Thr513=)
6g.6182071G>ACA362737491F13A1c.1376C>T (p.Thr459Ile)
c.1538C>T (p.Thr513Ile)
gnomAD v4
6g.6182071G>CCA362737492F13A1c.1376C>G (p.Thr459Ser)
c.1538C>G (p.Thr513Ser)
6g.6182071G>TCA362737494F13A1c.1376C>A (p.Thr459Asn)
c.1538C>A (p.Thr513Asn)
ClinVar
6g.6182072T>ACA362737496F13A1c.1375A>T (p.Thr459Ser)
c.1537A>T (p.Thr513Ser)
6g.6182072T>CCA362737498F13A1c.1375A>G (p.Thr459Ala)
c.1537A>G (p.Thr513Ala)
6g.6182072T>GCA362737499F13A1c.1375A>C (p.Thr459Pro)
c.1537A>C (p.Thr513Pro)
6g.6182073G>ACA134386670F13A1c.1374C>T (p.Ala458=)
c.1536C>T (p.Ala512=)
dbSNP gnomAD v2 gnomAD v4
6g.6182073G>CCA448640518F13A1c.1374C>G (p.Ala458=)
c.1536C>G (p.Ala512=)
6g.6182073G=CA1607973402F13A1c.1374C= (p.Ala458=)
c.1536C= (p.Ala512=)
6g.6182073G>TCA448640519F13A1c.1374C>A (p.Ala458=)
c.1536C>A (p.Ala512=)
6g.6182074G>ACA362737501F13A1c.1373C>T (p.Ala458Val)
c.1535C>T (p.Ala512Val)
dbSNP gnomAD v2 gnomAD v4
6g.6182074G>CCA362737502F13A1c.1373C>G (p.Ala458Gly)
c.1535C>G (p.Ala512Gly)
6g.6182074G=CA1607973403F13A1c.1373C= (p.Ala458=)
c.1535C= (p.Ala512=)
6g.6182074G>TCA362737504F13A1c.1373C>A (p.Ala458Asp)
c.1535C>A (p.Ala512Asp)
6g.6182075C>ACA362737506F13A1c.1372G>T (p.Ala458Ser)
c.1534G>T (p.Ala512Ser)
6g.6182075C=CA1607973404F13A1c.1372G= (p.Ala458=)
c.1534G= (p.Ala512=)
6g.6182075C>GCA362737507F13A1c.1372G>C (p.Ala458Pro)
c.1534G>C (p.Ala512Pro)
6g.6182075C>TCA3624361F13A1c.1372G>A (p.Ala458Thr)
c.1534G>A (p.Ala512Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6182076A>CCA362737508F13A1c.1371T>G (p.Asp457Glu)
c.1533T>G (p.Asp511Glu)
6g.6182076A>GCA448640520F13A1c.1371T>C (p.Asp457=)
c.1533T>C (p.Asp511=)
6g.6182076A>TCA362737510F13A1c.1371T>A (p.Asp457Glu)
c.1533T>A (p.Asp511Glu)
gnomAD v4
6g.6182077T>ACA362737511F13A1c.1370A>T (p.Asp457Val)
c.1532A>T (p.Asp511Val)
6g.6182077T>CCA362737513F13A1c.1370A>G (p.Asp457Gly)
c.1532A>G (p.Asp511Gly)
6g.6182077T>GCA362737514F13A1c.1370A>C (p.Asp457Ala)
c.1532A>C (p.Asp511Ala)
6g.6182078C>ACA362737519F13A1c.1369G>T (p.Asp457Tyr)
c.1531G>T (p.Asp511Tyr)
6g.6182078C=CA1607973405F13A1c.1369G= (p.Asp457=)
c.1531G= (p.Asp511=)
6g.6182078C>GCA362737515F13A1c.1369G>C (p.Asp457His)
c.1531G>C (p.Asp511His)
6g.6182078C>TCA362737517F13A1c.1369G>A (p.Asp457Asn)
c.1531G>A (p.Asp511Asn)
dbSNP gnomAD v2 gnomAD v4
6g.6182079C>ACA448640521F13A1c.1368G>T (p.Val456=)
c.1530G>T (p.Val510=)
6g.6182079C>GCA448640522F13A1c.1368G>C (p.Val456=)
c.1530G>C (p.Val510=)
6g.6182079C>TCA448640523F13A1c.1368G>A (p.Val456=)
c.1530G>A (p.Val510=)
6g.6182080A>CCA362737520F13A1c.1367T>G (p.Val456Gly)
c.1529T>G (p.Val510Gly)
6g.6182080A>GCA362737522F13A1c.1367T>C (p.Val456Ala)
c.1529T>C (p.Val510Ala)
6g.6182080A>TCA362737523F13A1c.1367T>A (p.Val456Glu)
c.1529T>A (p.Val510Glu)
6g.6182081C>ACA362737525F13A1c.1366G>T (p.Val456Leu)
c.1528G>T (p.Val510Leu)
6g.6182081C>GCA362737527F13A1c.1366G>C (p.Val456Leu)
c.1528G>C (p.Val510Leu)
6g.6182081C>TCA362737528F13A1c.1366G>A (p.Val456Met)
c.1528G>A (p.Val510Met)
6g.6182082A=CA1607973406F13A1c.1365T= (p.Asn455=)
c.1527T= (p.Asn509=)
6g.6182082A>CCA362737531F13A1c.1365T>G (p.Asn455Lys)
c.1527T>G (p.Asn509Lys)
6g.6182082A>GCA134386671F13A1c.1365T>C (p.Asn455=)
c.1527T>C (p.Asn509=)
dbSNP gnomAD v4
6g.6182082A>TCA362737530F13A1c.1365T>A (p.Asn455Lys)
c.1527T>A (p.Asn509Lys)
6g.6182083T>ACA362737536F13A1c.1364A>T (p.Asn455Ile)
c.1526A>T (p.Asn509Ile)
6g.6182083T>CCA362737539F13A1c.1364A>G (p.Asn455Ser)
c.1526A>G (p.Asn509Ser)
6g.6182083T>GCA362737537F13A1c.1364A>C (p.Asn455Thr)
c.1526A>C (p.Asn509Thr)
6g.6182084T>ACA362737540F13A1c.1363A>T (p.Asn455Tyr)
c.1525A>T (p.Asn509Tyr)
6g.6182084T>CCA362737542F13A1c.1363A>G (p.Asn455Asp)
c.1525A>G (p.Asn509Asp)
6g.6182084T>GCA362737541F13A1c.1363A>C (p.Asn455His)
c.1525A>C (p.Asn509His)
6g.6182085T>ACA362737544F13A1c.1362A>T (p.Glu454Asp)
c.1524A>T (p.Glu508Asp)
6g.6182085T>CCA448640524F13A1c.1362A>G (p.Glu454=)
c.1524A>G (p.Glu508=)
6g.6182085T>GCA362737545F13A1c.1362A>C (p.Glu454Asp)
c.1524A>C (p.Glu508Asp)
6g.6182086T>ACA362737547F13A1c.1361A>T (p.Glu454Val)
c.1523A>T (p.Glu508Val)
6g.6182086T>CCA362737548F13A1c.1361A>G (p.Glu454Gly)
c.1523A>G (p.Glu508Gly)
6g.6182086T>GCA362737550F13A1c.1361A>C (p.Glu454Ala)
c.1523A>C (p.Glu508Ala)
6g.6182087C>ACA362737551F13A1c.1360G>T (p.Glu454Ter)
c.1522G>T (p.Glu508Ter)
6g.6182087C=CA1607973407F13A1c.1360G= (p.Glu454=)
c.1522G= (p.Glu508=)
6g.6182087C>GCA362737553F13A1c.1360G>C (p.Glu454Gln)
c.1522G>C (p.Glu508Gln)
6g.6182087C>TCA3624362F13A1c.1360G>A (p.Glu454Lys)
c.1522G>A (p.Glu508Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6182088C>ACA448640525F13A1c.1359G>T (p.Val453=)
c.1521G>T (p.Val507=)
6g.6182088C=CA1607973408F13A1c.1359G= (p.Val453=)
c.1521G= (p.Val507=)
6g.6182088C>GCA448640526F13A1c.1359G>C (p.Val453=)
c.1521G>C (p.Val507=)
6g.6182088C>TCA3624363F13A1c.1359G>A (p.Val453=)
c.1521G>A (p.Val507=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6182089A=CA1607973409F13A1c.1358T= (p.Val453=)
c.1520T= (p.Val507=)
6g.6182089A>CCA3624364F13A1c.1358T>G (p.Val453Gly)
c.1520T>G (p.Val507Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6182089A>GCA362737557F13A1c.1358T>C (p.Val453Ala)
c.1520T>C (p.Val507Ala)
6g.6182089A>TCA362737556F13A1c.1358T>A (p.Val453Glu)
c.1520T>A (p.Val507Glu)
6g.6182090C>ACA362737559F13A1c.1357G>T (p.Val453Leu)
c.1519G>T (p.Val507Leu)
6g.6182090C>GCA362737561F13A1c.1357G>C (p.Val453Leu)
c.1519G>C (p.Val507Leu)
6g.6182090C>TCA362737563F13A1c.1357G>A (p.Val453Met)
c.1519G>A (p.Val507Met)
6g.6182091C>ACA448640527F13A1c.1356G>T (p.Val452=)
c.1518G>T (p.Val506=)
6g.6182091C>GCA448640528F13A1c.1356G>C (p.Val452=)
c.1518G>C (p.Val506=)
6g.6182091C>TCA448640529F13A1c.1356G>A (p.Val452=)
c.1518G>A (p.Val506=)
gnomAD v4
6g.6182092A=CA1607973410F13A1c.1355T= (p.Val452=)
c.1517T= (p.Val506=)
6g.6182092A>CCA362737564F13A1c.1355T>G (p.Val452Gly)
c.1517T>G (p.Val506Gly)
6g.6182092A>GCA362737566F13A1c.1355T>C (p.Val452Ala)
c.1517T>C (p.Val506Ala)
6g.6182092A>TCA3624365F13A1c.1355T>A (p.Val452Glu)
c.1517T>A (p.Val506Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6182093C>ACA362737568F13A1c.1354G>T (p.Val452Leu)
c.1516G>T (p.Val506Leu)
COSMIC
6g.6182093C=CA1607973411F13A1c.1354G= (p.Val452=)
c.1516G= (p.Val506=)
6g.6182093C>GCA362737569F13A1c.1354G>C (p.Val452Leu)
c.1516G>C (p.Val506Leu)
6g.6182093C>TCA3624366F13A1c.1354G>A (p.Val452Met)
c.1516G>A (p.Val506Met)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6182093_6182095delinsCATCA1607973412F13A1c.1352_1354delinsATG (p.His451=)
c.1514_1516delinsATG (p.His505=)
6g.6182094A=CA1607973413F13A1c.1353T= (p.His451=)
c.1515T= (p.His505=)
6g.6182094A>CCA362737572F13A1c.1353T>G (p.His451Gln)
c.1515T>G (p.His505Gln)
dbSNP gnomAD v2 gnomAD v4
6g.6182094A>GCA448640530F13A1c.1353T>C (p.His451=)
c.1515T>C (p.His505=)
6g.6182094A>TCA362737574F13A1c.1353T>A (p.His451Gln)
c.1515T>A (p.His505Gln)
6g.6182094_6182095delCA891842693F13A1c.1352_1353del (p.His451ArgfsTer29)
c.1514_1515del (p.His505ArgfsTer29)
ClinVar dbSNP gnomAD v4
6g.6182095T>ACA362737577F13A1c.1352A>T (p.His451Leu)
c.1514A>T (p.His505Leu)
gnomAD v4
6g.6182095T>CCA362737579F13A1c.1352A>G (p.His451Arg)
c.1514A>G (p.His505Arg)
6g.6182095T>GCA362737576F13A1c.1352A>C (p.His451Pro)
c.1514A>C (p.His505Pro)
6g.6182096G>ACA362737581F13A1c.1351C>T (p.His451Tyr)
c.1513C>T (p.His505Tyr)
gnomAD v4
6g.6182096G>CCA362737582F13A1c.1351C>G (p.His451Asp)
c.1513C>G (p.His505Asp)
6g.6182096G>TCA362737583F13A1c.1351C>A (p.His451Asn)
c.1513C>A (p.His505Asn)
6g.6182097A>CCA448640531F13A1c.1350T>G (p.Thr450=)
c.1512T>G (p.Thr504=)
6g.6182097A>GCA448640532F13A1c.1350T>C (p.Thr450=)
c.1512T>C (p.Thr504=)
6g.6182097A>TCA448640533F13A1c.1350T>A (p.Thr450=)
c.1512T>A (p.Thr504=)
6g.6182098G>ACA3624367F13A1c.1349C>T (p.Thr450Ile)
c.1511C>T (p.Thr504Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6182098G>CCA362737588F13A1c.1349C>G (p.Thr450Ser)
c.1511C>G (p.Thr504Ser)
6g.6182098G=CA1607973414F13A1c.1349C= (p.Thr450=)
c.1511C= (p.Thr504=)
6g.6182098G>TCA362737590F13A1c.1349C>A (p.Thr450Asn)
c.1511C>A (p.Thr504Asn)
6g.6182099T>ACA362737591F13A1c.1348A>T (p.Thr450Ser)
c.1510A>T (p.Thr504Ser)
6g.6182099T>CCA362737593F13A1c.1348A>G (p.Thr450Ala)
c.1510A>G (p.Thr504Ala)
6g.6182099T>GCA362737594F13A1c.1348A>C (p.Thr450Pro)
c.1510A>C (p.Thr504Pro)
6g.6182100G>ACA448640534F13A1c.1347C>T (p.Gly449=)
c.1509C>T (p.Gly503=)
6g.6182100G>CCA448640535F13A1c.1347C>G (p.Gly449=)
c.1509C>G (p.Gly503=)
6g.6182100G>TCA448640536F13A1c.1347C>A (p.Gly449=)
c.1509C>A (p.Gly503=)
6g.6182101C>ACA362737595F13A1c.1346G>T (p.Gly449Val)
c.1508G>T (p.Gly503Val)
6g.6182101C=CA1607973415F13A1c.1346G= (p.Gly449=)
c.1508G= (p.Gly503=)
6g.6182101C>GCA362737597F13A1c.1346G>C (p.Gly449Ala)
c.1508G>C (p.Gly503Ala)
ClinVar dbSNP
6g.6182101C>TCA362737598F13A1c.1346G>A (p.Gly449Asp)
c.1508G>A (p.Gly503Asp)
dbSNP COSMIC
6g.6182102C>ACA362737603F13A1c.1345G>T (p.Gly449Cys)
c.1507G>T (p.Gly503Cys)
6g.6182102C=CA1607973416F13A1c.1345G= (p.Gly449=)
c.1507G= (p.Gly503=)
6g.6182102C>GCA362737601F13A1c.1345G>C (p.Gly449Arg)
c.1507G>C (p.Gly503Arg)
6g.6182102C>TCA362737602F13A1c.1345G>A (p.Gly449Ser)
c.1507G>A (p.Gly503Ser)
dbSNP gnomAD v2 gnomAD v4
6g.6182103A=CA1607973417F13A1c.1344T= (p.Asp448=)
c.1506T= (p.Asp502=)
6g.6182103A>CCA362737605F13A1c.1344T>G (p.Asp448Glu)
c.1506T>G (p.Asp502Glu)
6g.6182103A>GCA448640537F13A1c.1344T>C (p.Asp448=)
c.1506T>C (p.Asp502=)
dbSNP gnomAD v4
6g.6182103A>TCA362737607F13A1c.1344T>A (p.Asp448Glu)
c.1506T>A (p.Asp502Glu)
6g.6182104T>ACA362737609F13A1c.1343A>T (p.Asp448Val)
c.1505A>T (p.Asp502Val)
6g.6182104T>CCA362737610F13A1c.1343A>G (p.Asp448Gly)
c.1505A>G (p.Asp502Gly)
6g.6182104T>GCA362737611F13A1c.1343A>C (p.Asp448Ala)
c.1505A>C (p.Asp502Ala)
6g.6182105C>ACA362737613F13A1c.1342G>T (p.Asp448Tyr)
c.1504G>T (p.Asp502Tyr)
6g.6182105C>GCA362737615F13A1c.1342G>C (p.Asp448His)
c.1504G>C (p.Asp502His)
6g.6182105C>TCA362737617F13A1c.1342G>A (p.Asp448Asn)
c.1504G>A (p.Asp502Asn)
6g.6182106T>ACA362737619F13A1c.1341A>T (p.Lys447Asn)
c.1503A>T (p.Lys501Asn)
6g.6182106T>CCA448640538F13A1c.1341A>G (p.Lys447=)
c.1503A>G (p.Lys501=)
COSMIC
6g.6182106T>GCA362737620F13A1c.1341A>C (p.Lys447Asn)
c.1503A>C (p.Lys501Asn)
6g.6182107T>ACA362737622F13A1c.1340A>T (p.Lys447Ile)
c.1502A>T (p.Lys501Ile)
6g.6182107T>CCA362737624F13A1c.1340A>G (p.Lys447Arg)
c.1502A>G (p.Lys501Arg)
gnomAD v4
6g.6182107T>GCA362737625F13A1c.1340A>C (p.Lys447Thr)
c.1502A>C (p.Lys501Thr)
6g.6182108T>ACA362737632F13A1c.1339A>T (p.Lys447Ter)
c.1501A>T (p.Lys501Ter)
6g.6182108T>CCA362737634F13A1c.1339A>G (p.Lys447Glu)
c.1501A>G (p.Lys501Glu)
6g.6182108T>GCA362737627F13A1c.1339A>C (p.Lys447Gln)
c.1501A>C (p.Lys501Gln)
6g.6182109C>ACA362737638F13A1c.1338G>T (p.Lys446Asn)
c.1500G>T (p.Lys500Asn)
6g.6182109C>GCA362737636F13A1c.1338G>C (p.Lys446Asn)
c.1500G>C (p.Lys500Asn)
6g.6182109C>TCA448640539F13A1c.1338G>A (p.Lys446=)
c.1500G>A (p.Lys500=)
6g.6182110T>ACA362737640F13A1c.1337A>T (p.Lys446Met)
c.1499A>T (p.Lys500Met)
6g.6182110T>CCA362737641F13A1c.1337A>G (p.Lys446Arg)
c.1499A>G (p.Lys500Arg)
6g.6182110T>GCA362737642F13A1c.1337A>C (p.Lys446Thr)
c.1499A>C (p.Lys500Thr)
6g.6182111T>ACA362737644F13A1c.1336A>T (p.Lys446Ter)
c.1498A>T (p.Lys500Ter)
6g.6182111T>CCA3624368F13A1c.1336A>G (p.Lys446Glu)
c.1498A>G (p.Lys500Glu)
dbSNP ExAC gnomAD v4
6g.6182111T>GCA362737646F13A1c.1336A>C (p.Lys446Gln)
c.1498A>C (p.Lys500Gln)
6g.6182111T=CA1607973418F13A1c.1336A= (p.Lys446=)
c.1498A= (p.Lys500=)
6g.6182112A>CCA448640540F13A1c.1335T>G (p.Ala445=)
c.1497T>G (p.Ala499=)
6g.6182112A>GCA448640541F13A1c.1335T>C (p.Ala445=)
c.1497T>C (p.Ala499=)
6g.6182112A>TCA448640542F13A1c.1335T>A (p.Ala445=)
c.1497T>A (p.Ala499=)
6g.6182113G>ACA134386672F13A1c.1334C>T (p.Ala445Val)
c.1496C>T (p.Ala499Val)
dbSNP gnomAD v4
6g.6182113G>CCA362737648F13A1c.1334C>G (p.Ala445Gly)
c.1496C>G (p.Ala499Gly)
6g.6182113G=CA1607973419F13A1c.1334C= (p.Ala445=)
c.1496C= (p.Ala499=)
6g.6182113G>TCA362737649F13A1c.1334C>A (p.Ala445Asp)
c.1496C>A (p.Ala499Asp)
6g.6182114C>ACA362737650F13A1c.1333G>T (p.Ala445Ser)
c.1495G>T (p.Ala499Ser)
gnomAD v4
6g.6182114C>GCA362737652F13A1c.1333G>C (p.Ala445Pro)
c.1495G>C (p.Ala499Pro)
6g.6182114C>TCA362737653F13A1c.1333G>A (p.Ala445Thr)
c.1495G>A (p.Ala499Thr)
6g.6182115T>ACA448640543F13A1c.1332A>T (p.Thr444=)
c.1494A>T (p.Thr498=)
6g.6182115T>CCA448640544F13A1c.1332A>G (p.Thr444=)
c.1494A>G (p.Thr498=)
6g.6182115T>GCA448640545F13A1c.1332A>C (p.Thr444=)
c.1494A>C (p.Thr498=)
6g.6182116G>ACA362737655F13A1c.1331C>T (p.Thr444Ile)
c.1493C>T (p.Thr498Ile)
gnomAD v4
6g.6182116G>CCA362737658F13A1c.1331C>G (p.Thr444Arg)
c.1493C>G (p.Thr498Arg)
6g.6182116G>TCA362737656F13A1c.1331C>A (p.Thr444Lys)
c.1493C>A (p.Thr498Lys)
6g.6182117T>ACA362737660F13A1c.1330A>T (p.Thr444Ser)
c.1492A>T (p.Thr498Ser)
6g.6182117T>CCA362737661F13A1c.1330A>G (p.Thr444Ala)
c.1492A>G (p.Thr498Ala)
dbSNP gnomAD v2 gnomAD v4
6g.6182117T>GCA362737663F13A1c.1330A>C (p.Thr444Pro)
c.1492A>C (p.Thr498Pro)
6g.6182117T=CA1607973421F13A1c.1330A= (p.Thr444=)
c.1492A= (p.Thr498=)
6g.6182117_6182123delinsTAATGTACA1607973420F13A1c.1324_1330delinsTACATTA (p.Tyr442=)
c.1486_1492delinsTACATTA (p.Tyr496=)
6g.6182118A>CCA362737664F13A1c.1329T>G (p.Ile443Met)
c.1491T>G (p.Ile497Met)
6g.6182118A>GCA448640546F13A1c.1329T>C (p.Ile443=)
c.1491T>C (p.Ile497=)
gnomAD v4
6g.6182118A>TCA448640547F13A1c.1329T>A (p.Ile443=)
c.1491T>A (p.Ile497=)
6g.6182122_6182127delCA3624369F13A1c.1324_1329del (p.Tyr442_Ile443del)
c.1486_1491del (p.Tyr496_Ile497del)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6182119A>CCA362737666F13A1c.1328T>G (p.Ile443Ser)
c.1490T>G (p.Ile497Ser)
6g.6182119A>GCA362737668F13A1c.1328T>C (p.Ile443Thr)
c.1490T>C (p.Ile497Thr)
6g.6182119A>TCA362737669F13A1c.1328T>A (p.Ile443Asn)
c.1490T>A (p.Ile497Asn)
6g.6182120T>ACA362737671F13A1c.1327A>T (p.Ile443Phe)
c.1489A>T (p.Ile497Phe)
6g.6182120T>CCA362737673F13A1c.1327A>G (p.Ile443Val)
c.1489A>G (p.Ile497Val)
6g.6182120T>GCA362737674F13A1c.1327A>C (p.Ile443Leu)
c.1489A>C (p.Ile497Leu)
gnomAD v4
6g.6182121G>ACA3624370F13A1c.1326C>T (p.Tyr442=)
c.1488C>T (p.Tyr496=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6182121G>CCA362737677F13A1c.1326C>G (p.Tyr442Ter)
c.1488C>G (p.Tyr496Ter)
6g.6182121G=CA1607973422F13A1c.1326C= (p.Tyr442=)
c.1488C= (p.Tyr496=)
6g.6182121G>TCA126618F13A1c.1326C>A (p.Tyr442Ter)
c.1488C>A (p.Tyr496Ter)
ClinVar dbSNP gnomAD v4
6g.6182122T>ACA362737679F13A1c.1325A>T (p.Tyr442Phe)
c.1487A>T (p.Tyr496Phe)
6g.6182122T>CCA362737681F13A1c.1325A>G (p.Tyr442Cys)
c.1487A>G (p.Tyr496Cys)
6g.6182122T>GCA362737682F13A1c.1325A>C (p.Tyr442Ser)
c.1487A>C (p.Tyr496Ser)
6g.6182123A>CCA362737684F13A1c.1324T>G (p.Tyr442Asp)
c.1486T>G (p.Tyr496Asp)
6g.6182123A>GCA362737685F13A1c.1324T>C (p.Tyr442His)
c.1486T>C (p.Tyr496His)
6g.6182123A>TCA362737687F13A1c.1324T>A (p.Tyr442Asn)
c.1486T>A (p.Tyr496Asn)
6g.6182124A>CCA362737688F13A1c.1323T>G (p.Ile441Met)
c.1485T>G (p.Ile495Met)
6g.6182124A>GCA448640548F13A1c.1323T>C (p.Ile441=)
c.1485T>C (p.Ile495=)
6g.6182124A>TCA448640549F13A1c.1323T>A (p.Ile441=)
c.1485T>A (p.Ile495=)
6g.6182125A>CCA362737690F13A1c.1322T>G (p.Ile441Ser)
c.1484T>G (p.Ile495Ser)
6g.6182125A>GCA362737691F13A1c.1322T>C (p.Ile441Thr)
c.1484T>C (p.Ile495Thr)
gnomAD v4
6g.6182125A>TCA362737693F13A1c.1322T>A (p.Ile441Asn)
c.1484T>A (p.Ile495Asn)
6g.6182126T>ACA362737695F13A1c.1321A>T (p.Ile441Phe)
c.1483A>T (p.Ile495Phe)
6g.6182126T>CCA362737697F13A1c.1321A>G (p.Ile441Val)
c.1483A>G (p.Ile495Val)
6g.6182126T>GCA362737698F13A1c.1321A>C (p.Ile441Leu)
c.1483A>C (p.Ile495Leu)
6g.6182127G>ACA448640550F13A1c.1320C>T (p.Leu440=)
c.1482C>T (p.Leu494=)
6g.6182127G>CCA448640551F13A1c.1320C>G (p.Leu440=)
c.1482C>G (p.Leu494=)
6g.6182127G>TCA448640552F13A1c.1320C>A (p.Leu440=)
c.1482C>A (p.Leu494=)

Number of alleles fetched