Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121145877C>ACA383022675TBCEL-TECTA,TECTAc.3866C>A (p.Ala1289Asp)
c.1173C>A
n.431C>A
c.4823C>A (p.Ala1608Asp)
11g.121145877C=CA2004737574TBCEL-TECTA,TECTAc.3866C= (p.Ala1289=)
c.1173C=
n.431C=
c.4823C= (p.Ala1608=)
11g.121145877C>GCA383022676TBCEL-TECTA,TECTAc.3866C>G (p.Ala1289Gly)
c.1173C>G
n.431C>G
c.4823C>G (p.Ala1608Gly)
11g.121145877C>TCA6327303TBCEL-TECTA,TECTAc.3866C>T (p.Ala1289Val)
c.1173C>T
n.431C>T
c.4823C>T (p.Ala1608Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145878C>ACA477382924TBCEL-TECTA,TECTAc.3867C>A (p.Ala1289=)
c.1174C>A
n.432C>A
c.4824C>A (p.Ala1608=)
11g.121145878C>GCA477382925TBCEL-TECTA,TECTAc.3867C>G (p.Ala1289=)
c.1174C>G
n.432C>G
c.4824C>G (p.Ala1608=)
11g.121145878C>TCA477382923TBCEL-TECTA,TECTAc.3867C>T (p.Ala1289=)
c.1174C>T
n.432C>T
c.4824C>T (p.Ala1608=)
11g.121145879A=CA2004737575TBCEL-TECTA,TECTAc.3868A= (p.Lys1290=)
c.1175A=
n.433A=
c.4825A= (p.Lys1609=)
11g.121145879A>CCA383022677TBCEL-TECTA,TECTAc.3868A>C (p.Lys1290Gln)
c.1175A>C
n.433A>C
c.4825A>C (p.Lys1609Gln)
11g.121145879A>GCA229831546TBCEL-TECTA,TECTAc.3868A>G (p.Lys1290Glu)
c.1175A>G
n.433A>G
c.4825A>G (p.Lys1609Glu)
 dbSNP gnomAD v3 gnomAD v4
11g.121145879A>TCA383022678TBCEL-TECTA,TECTAc.3868A>T (p.Lys1290Ter)
c.1175A>T
n.433A>T
c.4825A>T (p.Lys1609Ter)
11g.121145880A=CA2004737576TBCEL-TECTA,TECTAc.3869A= (p.Lys1290=)
c.1176A=
n.434A=
c.4826A= (p.Lys1609=)
11g.121145880A>CCA383022679TBCEL-TECTA,TECTAc.3869A>C (p.Lys1290Thr)
c.1176A>C
n.434A>C
c.4826A>C (p.Lys1609Thr)
11g.121145880A>GCA383022680TBCEL-TECTA,TECTAc.3869A>G (p.Lys1290Arg)
c.1176A>G
n.434A>G
c.4826A>G (p.Lys1609Arg)
11g.121145880A>TCA6327304TBCEL-TECTA,TECTAc.3869A>T (p.Lys1290Met)
c.1176A>T
n.434A>T
c.4826A>T (p.Lys1609Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145881G>ACA229831551TBCEL-TECTA,TECTAc.3870G>A (p.Lys1290=)
c.1177G>A
n.435G>A
c.4827G>A (p.Lys1609=)
 dbSNP gnomAD v3 gnomAD v4
11g.121145881G>CCA383022682TBCEL-TECTA,TECTAc.3870G>C (p.Lys1290Asn)
c.1177G>C
n.435G>C
c.4827G>C (p.Lys1609Asn)
11g.121145881G=CA2004737577TBCEL-TECTA,TECTAc.3870G= (p.Lys1290=)
c.1177G=
n.435G=
c.4827G= (p.Lys1609=)
11g.121145881G>TCA383022681TBCEL-TECTA,TECTAc.3870G>T (p.Lys1290Asn)
c.1177G>T
n.435G>T
c.4827G>T (p.Lys1609Asn)
11g.121145882G>ACA383022683TBCEL-TECTA,TECTAc.3871G>A (p.Val1291Met)
c.1178G>A
n.436G>A
c.4828G>A (p.Val1610Met)
 gnomAD v4
11g.121145882G>CCA383022684TBCEL-TECTA,TECTAc.3871G>C (p.Val1291Leu)
c.1178G>C
n.436G>C
c.4828G>C (p.Val1610Leu)
11g.121145882G=CA2004737578TBCEL-TECTA,TECTAc.3871G= (p.Val1291=)
c.1178G=
n.436G=
c.4828G= (p.Val1610=)
11g.121145882G>TCA229831559TBCEL-TECTA,TECTAc.3871G>T (p.Val1291Leu)
c.1178G>T
n.436G>T
c.4828G>T (p.Val1610Leu)
 dbSNP gnomAD v4
11g.121145883T>ACA383022685TBCEL-TECTA,TECTAc.3872T>A (p.Val1291Glu)
c.1179T>A
n.437T>A
c.4829T>A (p.Val1610Glu)
11g.121145883T>CCA383022686TBCEL-TECTA,TECTAc.3872T>C (p.Val1291Ala)
c.1179T>C
n.437T>C
c.4829T>C (p.Val1610Ala)
11g.121145883T>GCA383022687TBCEL-TECTA,TECTAc.3872T>G (p.Val1291Gly)
c.1179T>G
n.437T>G
c.4829T>G (p.Val1610Gly)
11g.121145884G>ACA6327305TBCEL-TECTA,TECTAc.3873G>A (p.Val1291=)
c.1180G>A
n.438G>A
c.4830G>A (p.Val1610=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145884G>CCA477382926TBCEL-TECTA,TECTAc.3873G>C (p.Val1291=)
c.1180G>C
n.438G>C
c.4830G>C (p.Val1610=)
11g.121145884G=CA2004737579TBCEL-TECTA,TECTAc.3873G= (p.Val1291=)
c.1180G=
n.438G=
c.4830G= (p.Val1610=)
11g.121145884G>TCA477382927TBCEL-TECTA,TECTAc.3873G>T (p.Val1291=)
c.1180G>T
n.438G>T
c.4830G>T (p.Val1610=)
11g.121145885G>ACA6327306TBCEL-TECTA,TECTAc.3874G>A (p.Glu1292Lys)
c.1181G>A
n.439G>A
c.4831G>A (p.Glu1611Lys)
 dbSNP ExAC
11g.121145885G>CCA383022688TBCEL-TECTA,TECTAc.3874G>C (p.Glu1292Gln)
c.1181G>C
n.439G>C
c.4831G>C (p.Glu1611Gln)
 dbSNP gnomAD v4
11g.121145885G=CA2004737580TBCEL-TECTA,TECTAc.3874G= (p.Glu1292=)
c.1181G=
n.439G=
c.4831G= (p.Glu1611=)
11g.121145885G>TCA383022689TBCEL-TECTA,TECTAc.3874G>T (p.Glu1292Ter)
c.1181G>T
n.439G>T
c.4831G>T (p.Glu1611Ter)
11g.121145886A>CCA383022690TBCEL-TECTA,TECTAc.3875A>C (p.Glu1292Ala)
c.1182A>C
n.440A>C
c.4832A>C (p.Glu1611Ala)
11g.121145886A>GCA383022691TBCEL-TECTA,TECTAc.3875A>G (p.Glu1292Gly)
c.1182A>G
n.440A>G
c.4832A>G (p.Glu1611Gly)
11g.121145886A>TCA383022692TBCEL-TECTA,TECTAc.3875A>T (p.Glu1292Val)
c.1182A>T
n.440A>T
c.4832A>T (p.Glu1611Val)
11g.121145887A>CCA383022693TBCEL-TECTA,TECTAc.3876A>C (p.Glu1292Asp)
c.1183A>C
n.441A>C
c.4833A>C (p.Glu1611Asp)
11g.121145887A>GCA477382928TBCEL-TECTA,TECTAc.3876A>G (p.Glu1292=)
c.1183A>G
n.441A>G
c.4833A>G (p.Glu1611=)
11g.121145887A>TCA383022694TBCEL-TECTA,TECTAc.3876A>T (p.Glu1292Asp)
c.1183A>T
n.441A>T
c.4833A>T (p.Glu1611Asp)
11g.121145888G>ACA383022696TBCEL-TECTA,TECTAc.3877G>A (p.Gly1293Ser)
c.1184G>A
n.442G>A
c.4834G>A (p.Gly1612Ser)
11g.121145888G>CCA383022697TBCEL-TECTA,TECTAc.3877G>C (p.Gly1293Arg)
c.1184G>C
n.442G>C
c.4834G>C (p.Gly1612Arg)
11g.121145888G>TCA383022695TBCEL-TECTA,TECTAc.3877G>T (p.Gly1293Cys)
c.1184G>T
n.442G>T
c.4834G>T (p.Gly1612Cys)
11g.121145889G>ACA6327307TBCEL-TECTA,TECTAc.3878G>A (p.Gly1293Asp)
c.1185G>A
n.443G>A
c.4835G>A (p.Gly1612Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145889G>CCA383022698TBCEL-TECTA,TECTAc.3878G>C (p.Gly1293Ala)
c.1185G>C
n.443G>C
c.4835G>C (p.Gly1612Ala)
11g.121145889G=CA2004737581TBCEL-TECTA,TECTAc.3878G= (p.Gly1293=)
c.1185G=
n.443G=
c.4835G= (p.Gly1612=)
11g.121145889G>TCA383022699TBCEL-TECTA,TECTAc.3878G>T (p.Gly1293Val)
c.1185G>T
n.443G>T
c.4835G>T (p.Gly1612Val)
 dbSNP
11g.121145890T>ACA477382929TBCEL-TECTA,TECTAc.3879T>A (p.Gly1293=)
c.1186T>A
n.444T>A
c.4836T>A (p.Gly1612=)
 gnomAD v4
11g.121145890T>CCA477382931TBCEL-TECTA,TECTAc.3879T>C (p.Gly1293=)
c.1186T>C
n.444T>C
c.4836T>C (p.Gly1612=)
 gnomAD v4
11g.121145890T>GCA477382930TBCEL-TECTA,TECTAc.3879T>G (p.Gly1293=)
c.1186T>G
n.444T>G
c.4836T>G (p.Gly1612=)
11g.121145891T>ACA383022700TBCEL-TECTA,TECTAc.3880T>A (p.Phe1294Ile)
c.1187T>A
n.445T>A
c.4837T>A (p.Phe1613Ile)
11g.121145891T>CCA383022701TBCEL-TECTA,TECTAc.3880T>C (p.Phe1294Leu)
c.1187T>C
n.445T>C
c.4837T>C (p.Phe1613Leu)
11g.121145891T>GCA383022702TBCEL-TECTA,TECTAc.3880T>G (p.Phe1294Val)
c.1187T>G
n.445T>G
c.4837T>G (p.Phe1613Val)
11g.121145892T>ACA383022705TBCEL-TECTA,TECTAc.3881T>A (p.Phe1294Tyr)
c.1188T>A
n.446T>A
c.4838T>A (p.Phe1613Tyr)
11g.121145892T>CCA383022703TBCEL-TECTA,TECTAc.3881T>C (p.Phe1294Ser)
c.1188T>C
n.446T>C
c.4838T>C (p.Phe1613Ser)
11g.121145892T>GCA383022704TBCEL-TECTA,TECTAc.3881T>G (p.Phe1294Cys)
c.1188T>G
n.446T>G
c.4838T>G (p.Phe1613Cys)
11g.121145893C>ACA383022706TBCEL-TECTA,TECTAc.3882C>A (p.Phe1294Leu)
c.1189C>A
n.447C>A
c.4839C>A (p.Phe1613Leu)
 dbSNP
11g.121145893C=CA2004737582TBCEL-TECTA,TECTAc.3882C= (p.Phe1294=)
c.1189C=
n.447C=
c.4839C= (p.Phe1613=)
11g.121145893C>GCA383022707TBCEL-TECTA,TECTAc.3882C>G (p.Phe1294Leu)
c.1189C>G
n.447C>G
c.4839C>G (p.Phe1613Leu)
11g.121145893C>TCA477382932TBCEL-TECTA,TECTAc.3882C>T (p.Phe1294=)
c.1189C>T
n.447C>T
c.4839C>T (p.Phe1613=)
11g.121145894T>ACA383022708TBCEL-TECTA,TECTAc.3883T>A (p.Ser1295Thr)
c.1190T>A
n.448T>A
c.4840T>A (p.Ser1614Thr)
11g.121145894T>CCA383022709TBCEL-TECTA,TECTAc.3883T>C (p.Ser1295Pro)
c.1190T>C
n.448T>C
c.4840T>C (p.Ser1614Pro)
 gnomAD v4
11g.121145894T>GCA383022710TBCEL-TECTA,TECTAc.3883T>G (p.Ser1295Ala)
c.1190T>G
n.448T>G
c.4840T>G (p.Ser1614Ala)
11g.121145895C>ACA383022711TBCEL-TECTA,TECTAc.3884C>A (p.Ser1295Tyr)
c.1191C>A
n.449C>A
c.4841C>A (p.Ser1614Tyr)
11g.121145895C>GCA383022713TBCEL-TECTA,TECTAc.3884C>G (p.Ser1295Cys)
c.1191C>G
n.449C>G
c.4841C>G (p.Ser1614Cys)
11g.121145895C>TCA383022712TBCEL-TECTA,TECTAc.3884C>T (p.Ser1295Phe)
c.1191C>T
n.449C>T
c.4841C>T (p.Ser1614Phe)
 COSMIC
11g.121145896C>ACA477382933TBCEL-TECTA,TECTAc.3885C>A (p.Ser1295=)
c.1192C>A
n.450C>A
c.4842C>A (p.Ser1614=)
11g.121145896C>GCA477382934TBCEL-TECTA,TECTAc.3885C>G (p.Ser1295=)
c.1192C>G
n.450C>G
c.4842C>G (p.Ser1614=)
 gnomAD v4
11g.121145896C>TCA477382935TBCEL-TECTA,TECTAc.3885C>T (p.Ser1295=)
c.1192C>T
n.450C>T
c.4842C>T (p.Ser1614=)
11g.121145897A>CCA383022714TBCEL-TECTA,TECTAc.3886A>C (p.Lys1296Gln)
c.1193A>C
n.451A>C
c.4843A>C (p.Lys1615Gln)
11g.121145897A>GCA383022715TBCEL-TECTA,TECTAc.3886A>G (p.Lys1296Glu)
c.1193A>G
n.451A>G
c.4843A>G (p.Lys1615Glu)
11g.121145897A>TCA383022716TBCEL-TECTA,TECTAc.3886A>T (p.Lys1296Ter)
c.1193A>T
n.451A>T
c.4843A>T (p.Lys1615Ter)
11g.121145899delCA645593864TBCEL-TECTA,TECTAc.3888del (p.Val1297CysfsTer7)
c.1195del
n.453del
c.4845del (p.Val1616CysfsTer7)
 COSMIC
11g.121145898A>CCA383022717TBCEL-TECTA,TECTAc.3887A>C (p.Lys1296Thr)
c.1194A>C
n.452A>C
c.4844A>C (p.Lys1615Thr)
11g.121145898A>GCA383022718TBCEL-TECTA,TECTAc.3887A>G (p.Lys1296Arg)
c.1194A>G
n.452A>G
c.4844A>G (p.Lys1615Arg)
11g.121145898A>TCA383022719TBCEL-TECTA,TECTAc.3887A>T (p.Lys1296Ile)
c.1194A>T
n.452A>T
c.4844A>T (p.Lys1615Ile)
11g.121145899A>CCA383022720TBCEL-TECTA,TECTAc.3888A>C (p.Lys1296Asn)
c.1195A>C
n.453A>C
c.4845A>C (p.Lys1615Asn)
11g.121145899A>GCA477382936TBCEL-TECTA,TECTAc.3888A>G (p.Lys1296=)
c.1195A>G
n.453A>G
c.4845A>G (p.Lys1615=)
 COSMIC
11g.121145899A>TCA383022721TBCEL-TECTA,TECTAc.3888A>T (p.Lys1296Asn)
c.1195A>T
n.453A>T
c.4845A>T (p.Lys1615Asn)
11g.121145900G>ACA383022722TBCEL-TECTA,TECTAc.3889G>A (p.Val1297Met)
c.1196G>A
n.454G>A
c.4846G>A (p.Val1616Met)
11g.121145900G>CCA383022723TBCEL-TECTA,TECTAc.3889G>C (p.Val1297Leu)
c.1196G>C
n.454G>C
c.4846G>C (p.Val1616Leu)
11g.121145900G>TCA383022724TBCEL-TECTA,TECTAc.3889G>T (p.Val1297Leu)
c.1196G>T
n.454G>T
c.4846G>T (p.Val1616Leu)
11g.121145901T>ACA383022725TBCEL-TECTA,TECTAc.3890T>A (p.Val1297Glu)
c.1197T>A
n.455T>A
c.4847T>A (p.Val1616Glu)
11g.121145901T>CCA383022727TBCEL-TECTA,TECTAc.3890T>C (p.Val1297Ala)
c.1197T>C
n.455T>C
c.4847T>C (p.Val1616Ala)
 dbSNP
11g.121145901T>GCA383022726TBCEL-TECTA,TECTAc.3890T>G (p.Val1297Gly)
c.1197T>G
n.455T>G
c.4847T>G (p.Val1616Gly)
11g.121145902G>ACA477382937TBCEL-TECTA,TECTAc.3891G>A (p.Val1297=)
c.1198G>A
n.456G>A
c.4848G>A (p.Val1616=)
11g.121145902G>CCA477382939TBCEL-TECTA,TECTAc.3891G>C (p.Val1297=)
c.1198G>C
n.456G>C
c.4848G>C (p.Val1616=)
11g.121145902G>TCA477382938TBCEL-TECTA,TECTAc.3891G>T (p.Val1297=)
c.1198G>T
n.456G>T
c.4848G>T (p.Val1616=)
11g.121145903C>ACA383022728TBCEL-TECTA,TECTAc.3892C>A (p.Gln1298Lys)
c.1199C>A
n.457C>A
c.4849C>A (p.Gln1617Lys)
11g.121145903C>GCA383022730TBCEL-TECTA,TECTAc.3892C>G (p.Gln1298Glu)
c.1199C>G
n.457C>G
c.4849C>G (p.Gln1617Glu)
11g.121145903C>TCA383022729TBCEL-TECTA,TECTAc.3892C>T (p.Gln1298Ter)
c.1199C>T
n.457C>T
c.4849C>T (p.Gln1617Ter)
11g.121145904A>CCA383022731TBCEL-TECTA,TECTAc.3893A>C (p.Gln1298Pro)
c.1200A>C
n.458A>C
c.4850A>C (p.Gln1617Pro)
11g.121145904A>GCA383022732TBCEL-TECTA,TECTAc.3893A>G (p.Gln1298Arg)
c.1200A>G
n.458A>G
c.4850A>G (p.Gln1617Arg)
 gnomAD v4
11g.121145904A>TCA383022733TBCEL-TECTA,TECTAc.3893A>T (p.Gln1298Leu)
c.1200A>T
n.458A>T
c.4850A>T (p.Gln1617Leu)
11g.121145905G>ACA477382940TBCEL-TECTA,TECTAc.3894G>A (p.Gln1298=)
c.1201G>A
n.459G>A
c.4851G>A (p.Gln1617=)
 dbSNP gnomAD v2 gnomAD v4
11g.121145905G>CCA383022734TBCEL-TECTA,TECTAc.3894G>C (p.Gln1298His)
c.1201G>C
n.459G>C
c.4851G>C (p.Gln1617His)
11g.121145905G=CA2004737583TBCEL-TECTA,TECTAc.3894G= (p.Gln1298=)
c.1201G=
n.459G=
c.4851G= (p.Gln1617=)
11g.121145905G>TCA383022735TBCEL-TECTA,TECTAc.3894G>T (p.Gln1298His)
c.1201G>T
n.459G>T
c.4851G>T (p.Gln1617His)
11g.121145906C>ACA383022736TBCEL-TECTA,TECTAc.3895C>A (p.Gln1299Lys)
c.1202C>A
n.460C>A
c.4852C>A (p.Gln1618Lys)
11g.121145906C>GCA383022737TBCEL-TECTA,TECTAc.3895C>G (p.Gln1299Glu)
c.1202C>G
n.460C>G
c.4852C>G (p.Gln1618Glu)
 gnomAD v4
11g.121145906C>TCA383022738TBCEL-TECTA,TECTAc.3895C>T (p.Gln1299Ter)
c.1202C>T
n.460C>T
c.4852C>T (p.Gln1618Ter)
11g.121145907A=CA2004737584TBCEL-TECTA,TECTAc.3896A= (p.Gln1299=)
c.1203A=
n.461A=
c.4853A= (p.Gln1618=)
11g.121145907A>CCA383022739TBCEL-TECTA,TECTAc.3896A>C (p.Gln1299Pro)
c.1203A>C
n.461A>C
c.4853A>C (p.Gln1618Pro)
 gnomAD v4
11g.121145907A>GCA6327308TBCEL-TECTA,TECTAc.3896A>G (p.Gln1299Arg)
c.1203A>G
n.461A>G
c.4853A>G (p.Gln1618Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145907A>TCA383022740TBCEL-TECTA,TECTAc.3896A>T (p.Gln1299Leu)
c.1203A>T
n.461A>T
c.4853A>T (p.Gln1618Leu)
11g.121145908G>ACA477382941TBCEL-TECTA,TECTAc.3897G>A (p.Gln1299=)
c.1204G>A
n.462G>A
c.4854G>A (p.Gln1618=)
11g.121145908G>CCA383022741TBCEL-TECTA,TECTAc.3897G>C (p.Gln1299His)
c.1204G>C
n.462G>C
c.4854G>C (p.Gln1618His)
11g.121145908G>TCA383022742TBCEL-TECTA,TECTAc.3897G>T (p.Gln1299His)
c.1204G>T
n.462G>T
c.4854G>T (p.Gln1618His)
11g.121145909C>ACA383022743TBCEL-TECTA,TECTAc.3898C>A (p.Leu1300Met)
c.1205C>A
n.463C>A
c.4855C>A (p.Leu1619Met)
11g.121145909C=CA2004737585TBCEL-TECTA,TECTAc.3898C= (p.Leu1300=)
c.1205C=
n.463C=
c.4855C= (p.Leu1619=)
11g.121145909C>GCA6327309TBCEL-TECTA,TECTAc.3898C>G (p.Leu1300Val)
c.1205C>G
n.463C>G
c.4855C>G (p.Leu1619Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145909C>TCA229831631TBCEL-TECTA,TECTAc.3898C>T (p.Leu1300=)
c.1205C>T
n.463C>T
c.4855C>T (p.Leu1619=)
 ClinVar dbSNP gnomAD v4
11g.121145910T>ACA383022744TBCEL-TECTA,TECTAc.3899T>A (p.Leu1300Gln)
c.1206T>A
n.464T>A
c.4856T>A (p.Leu1619Gln)
11g.121145910T>CCA383022745TBCEL-TECTA,TECTAc.3899T>C (p.Leu1300Pro)
c.1206T>C
n.464T>C
c.4856T>C (p.Leu1619Pro)
 gnomAD v4
11g.121145910T>GCA229831641TBCEL-TECTA,TECTAc.3899T>G (p.Leu1300Arg)
c.1206T>G
n.464T>G
c.4856T>G (p.Leu1619Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.121145910T=CA2004737586TBCEL-TECTA,TECTAc.3899T= (p.Leu1300=)
c.1206T=
n.464T=
c.4856T= (p.Leu1619=)
11g.121145911G>ACA477382943TBCEL-TECTA,TECTAc.3900G>A (p.Leu1300=)
c.1207G>A
n.465G>A
c.4857G>A (p.Leu1619=)
 dbSNP gnomAD v4
11g.121145911G>CCA477382942TBCEL-TECTA,TECTAc.3900G>C (p.Leu1300=)
c.1207G>C
n.465G>C
c.4857G>C (p.Leu1619=)
11g.121145911G=CA2004737587TBCEL-TECTA,TECTAc.3900G= (p.Leu1300=)
c.1207G=
n.465G=
c.4857G= (p.Leu1619=)
11g.121145911G>TCA229831645TBCEL-TECTA,TECTAc.3900G>T (p.Leu1300=)
c.1207G>T
n.465G>T
c.4857G>T (p.Leu1619=)
 dbSNP gnomAD v4
11g.121145912T>ACA383022746TBCEL-TECTA,TECTAc.3901T>A (p.Cys1301Ser)
c.1208T>A
n.466T>A
c.4858T>A (p.Cys1620Ser)
11g.121145912T>CCA383022747TBCEL-TECTA,TECTAc.3901T>C (p.Cys1301Arg)
c.1208T>C
n.466T>C
c.4858T>C (p.Cys1620Arg)
11g.121145912T>GCA383022748TBCEL-TECTA,TECTAc.3901T>G (p.Cys1301Gly)
c.1208T>G
n.466T>G
c.4858T>G (p.Cys1620Gly)
11g.121145913G>ACA383022749TBCEL-TECTA,TECTAc.3902G>A (p.Cys1301Tyr)
c.1209G>A
n.467G>A
c.4859G>A (p.Cys1620Tyr)
11g.121145913G>CCA383022750TBCEL-TECTA,TECTAc.3902G>C (p.Cys1301Ser)
c.1209G>C
n.467G>C
c.4859G>C (p.Cys1620Ser)
11g.121145913G=CA2004737588TBCEL-TECTA,TECTAc.3902G= (p.Cys1301=)
c.1209G=
n.467G=
c.4859G= (p.Cys1620=)
11g.121145913G>TCA383022751TBCEL-TECTA,TECTAc.3902G>T (p.Cys1301Phe)
c.1209G>T
n.467G>T
c.4859G>T (p.Cys1620Phe)
 dbSNP gnomAD v2 gnomAD v4
11g.121145914C>ACA383022753TBCEL-TECTA,TECTAc.3903C>A (p.Cys1301Ter)
c.1210C>A
n.468C>A
c.4860C>A (p.Cys1620Ter)
11g.121145914C=CA2004737589TBCEL-TECTA,TECTAc.3903C= (p.Cys1301=)
c.1210C=
n.468C=
c.4860C= (p.Cys1620=)
11g.121145914C>GCA383022752TBCEL-TECTA,TECTAc.3903C>G (p.Cys1301Trp)
c.1210C>G
n.468C>G
c.4860C>G (p.Cys1620Trp)
11g.121145914C>TCA229831646TBCEL-TECTA,TECTAc.3903C>T (p.Cys1301=)
c.1210C>T
n.468C>T
c.4860C>T (p.Cys1620=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121145915A>CCA383022754TBCEL-TECTA,TECTAc.3904A>C (p.Ser1302Arg)
c.1211A>C
n.469A>C
c.4861A>C (p.Ser1621Arg)
11g.121145915A>GCA383022755TBCEL-TECTA,TECTAc.3904A>G (p.Ser1302Gly)
c.1211A>G
n.469A>G
c.4861A>G (p.Ser1621Gly)
11g.121145915A>TCA383022756TBCEL-TECTA,TECTAc.3904A>T (p.Ser1302Cys)
c.1211A>T
n.469A>T
c.4861A>T (p.Ser1621Cys)
11g.121145916G>ACA383022757TBCEL-TECTA,TECTAc.3905G>A (p.Ser1302Asn)
c.1212G>A
n.470G>A
c.4862G>A (p.Ser1621Asn)
11g.121145916G>CCA383022758TBCEL-TECTA,TECTAc.3905G>C (p.Ser1302Thr)
c.1212G>C
n.470G>C
c.4862G>C (p.Ser1621Thr)
11g.121145916G>TCA383022759TBCEL-TECTA,TECTAc.3905G>T (p.Ser1302Ile)
c.1212G>T
n.470G>T
c.4862G>T (p.Ser1621Ile)
11g.121145917C>ACA383022760TBCEL-TECTA,TECTAc.3906C>A (p.Ser1302Arg)
c.1213C>A
n.471C>A
c.4863C>A (p.Ser1621Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.121145917C=CA2004737590TBCEL-TECTA,TECTAc.3906C= (p.Ser1302=)
c.1213C=
n.471C=
c.4863C= (p.Ser1621=)
11g.121145917C>GCA383022761TBCEL-TECTA,TECTAc.3906C>G (p.Ser1302Arg)
c.1213C>G
n.471C>G
c.4863C>G (p.Ser1621Arg)
11g.121145917C>TCA477382944TBCEL-TECTA,TECTAc.3906C>T (p.Ser1302=)
c.1213C>T
n.471C>T
c.4863C>T (p.Ser1621=)
11g.121145918C>ACA383022762TBCEL-TECTA,TECTAc.3907C>A (p.Leu1303Met)
c.1214C>A
n.472C>A
c.4864C>A (p.Leu1622Met)
11g.121145918C>GCA383022763TBCEL-TECTA,TECTAc.3907C>G (p.Leu1303Val)
c.1214C>G
n.472C>G
c.4864C>G (p.Leu1622Val)
11g.121145918C>TCA477382945TBCEL-TECTA,TECTAc.3907C>T (p.Leu1303=)
c.1214C>T
n.472C>T
c.4864C>T (p.Leu1622=)
11g.121145919T>ACA383022764TBCEL-TECTA,TECTAc.3908T>A (p.Leu1303Gln)
c.1215T>A
n.473T>A
c.4865T>A (p.Leu1622Gln)
11g.121145919T>CCA383022765TBCEL-TECTA,TECTAc.3908T>C (p.Leu1303Pro)
c.1215T>C
n.473T>C
c.4865T>C (p.Leu1622Pro)
11g.121145919T>GCA383022766TBCEL-TECTA,TECTAc.3908T>G (p.Leu1303Arg)
c.1215T>G
n.473T>G
c.4865T>G (p.Leu1622Arg)
11g.121145920G>ACA477382946TBCEL-TECTA,TECTAc.3909G>A (p.Leu1303=)
c.1216G>A
n.474G>A
c.4866G>A (p.Leu1622=)
11g.121145920G>CCA477382947TBCEL-TECTA,TECTAc.3909G>C (p.Leu1303=)
c.1216G>C
n.474G>C
c.4866G>C (p.Leu1622=)
11g.121145920G>TCA477382948TBCEL-TECTA,TECTAc.3909G>T (p.Leu1303=)
c.1216G>T
n.474G>T
c.4866G>T (p.Leu1622=)
11g.121145921A=CA2004737591TBCEL-TECTA,TECTAc.3910A= (p.Ile1304=)
c.1217A=
n.475A=
c.4867A= (p.Ile1623=)
11g.121145921A>CCA383022767TBCEL-TECTA,TECTAc.3910A>C (p.Ile1304Leu)
c.1217A>C
n.475A>C
c.4867A>C (p.Ile1623Leu)
11g.121145921A>GCA383022768TBCEL-TECTA,TECTAc.3910A>G (p.Ile1304Val)
c.1217A>G
n.475A>G
c.4867A>G (p.Ile1623Val)
11g.121145921A>TCA229831649TBCEL-TECTA,TECTAc.3910A>T (p.Ile1304Phe)
c.1217A>T
n.475A>T
c.4867A>T (p.Ile1623Phe)
 dbSNP
11g.121145922T>ACA383022769TBCEL-TECTA,TECTAc.3911T>A (p.Ile1304Asn)
c.1218T>A
n.476T>A
c.4868T>A (p.Ile1623Asn)
11g.121145922T>CCA383022770TBCEL-TECTA,TECTAc.3911T>C (p.Ile1304Thr)
c.1218T>C
n.476T>C
c.4868T>C (p.Ile1623Thr)
11g.121145922T>GCA383022771TBCEL-TECTA,TECTAc.3911T>G (p.Ile1304Ser)
c.1218T>G
n.476T>G
c.4868T>G (p.Ile1623Ser)
11g.121145923C>ACA477382949TBCEL-TECTA,TECTAc.3912C>A (p.Ile1304=)
c.1219C>A
n.477C>A
c.4869C>A (p.Ile1623=)
11g.121145923C=CA2004737592TBCEL-TECTA,TECTAc.3912C= (p.Ile1304=)
c.1219C=
n.477C=
c.4869C= (p.Ile1623=)
11g.121145923C>GCA383022772TBCEL-TECTA,TECTAc.3912C>G (p.Ile1304Met)
c.1219C>G
n.477C>G
c.4869C>G (p.Ile1623Met)
11g.121145923C>TCA477382950TBCEL-TECTA,TECTAc.3912C>T (p.Ile1304=)
c.1219C>T
n.477C>T
c.4869C>T (p.Ile1623=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121145924C>ACA383022775TBCEL-TECTA,TECTAc.3913C>A (p.Pro1305Thr)
c.1220C>A
n.478C>A
c.4870C>A (p.Pro1624Thr)
11g.121145924C>GCA383022774TBCEL-TECTA,TECTAc.3913C>G (p.Pro1305Ala)
c.1220C>G
n.478C>G
c.4870C>G (p.Pro1624Ala)
 dbSNP
11g.121145924C>TCA383022773TBCEL-TECTA,TECTAc.3913C>T (p.Pro1305Ser)
c.1220C>T
n.478C>T
c.4870C>T (p.Pro1624Ser)
11g.121145925C>ACA383022776TBCEL-TECTA,TECTAc.3914C>A (p.Pro1305His)
c.1221C>A
n.479C>A
c.4871C>A (p.Pro1624His)
11g.121145925C>GCA383022777TBCEL-TECTA,TECTAc.3914C>G (p.Pro1305Arg)
c.1221C>G
n.479C>G
c.4871C>G (p.Pro1624Arg)
11g.121145925C>TCA383022778TBCEL-TECTA,TECTAc.3914C>T (p.Pro1305Leu)
c.1221C>T
n.479C>T
c.4871C>T (p.Pro1624Leu)
11g.121145926C>ACA477382954TBCEL-TECTA,TECTAc.3915C>A (p.Pro1305=)
c.1222C>A
n.480C>A
c.4872C>A (p.Pro1624=)
11g.121145926C=CA2004737593TBCEL-TECTA,TECTAc.3915C= (p.Pro1305=)
c.1222C=
n.480C=
c.4872C= (p.Pro1624=)
11g.121145926C>GCA477382955TBCEL-TECTA,TECTAc.3915C>G (p.Pro1305=)
c.1222C>G
n.480C>G
c.4872C>G (p.Pro1624=)
11g.121145926C>TCA477382953TBCEL-TECTA,TECTAc.3915C>T (p.Pro1305=)
c.1222C>T
n.480C>T
c.4872C>T (p.Pro1624=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.121145927A=CA2004737594TBCEL-TECTA,TECTAc.3916A= (p.Asn1306=)
c.1223A=
n.481A=
c.4873A= (p.Asn1625=)
11g.121145927A>CCA383022779TBCEL-TECTA,TECTAc.3916A>C (p.Asn1306His)
c.1223A>C
n.481A>C
c.4873A>C (p.Asn1625His)
 dbSNP gnomAD v3 gnomAD v4
11g.121145927A>GCA383022780TBCEL-TECTA,TECTAc.3916A>G (p.Asn1306Asp)
c.1223A>G
n.481A>G
c.4873A>G (p.Asn1625Asp)
11g.121145927A>TCA383022781TBCEL-TECTA,TECTAc.3916A>T (p.Asn1306Tyr)
c.1223A>T
n.481A>T
c.4873A>T (p.Asn1625Tyr)
11g.121145928A=CA2004737595TBCEL-TECTA,TECTAc.3917A= (p.Asn1306=)
c.1224A=
n.482A=
c.4874A= (p.Asn1625=)
11g.121145928A>CCA383022782TBCEL-TECTA,TECTAc.3917A>C (p.Asn1306Thr)
c.1224A>C
n.482A>C
c.4874A>C (p.Asn1625Thr)
11g.121145928A>GCA6327310TBCEL-TECTA,TECTAc.3917A>G (p.Asn1306Ser)
c.1224A>G
n.482A>G
c.4874A>G (p.Asn1625Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145928A>TCA6327311TBCEL-TECTA,TECTAc.3917A>T (p.Asn1306Ile)
c.1224A>T
n.482A>T
c.4874A>T (p.Asn1625Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145929C>ACA383022783TBCEL-TECTA,TECTAc.3918C>A (p.Asn1306Lys)
c.1225C>A
n.483C>A
c.4875C>A (p.Asn1625Lys)
 gnomAD v4
11g.121145929C=CA2004737596TBCEL-TECTA,TECTAc.3918C= (p.Asn1306=)
c.1225C=
n.483C=
c.4875C= (p.Asn1625=)
11g.121145929C>GCA383022784TBCEL-TECTA,TECTAc.3918C>G (p.Asn1306Lys)
c.1225C>G
n.483C>G
c.4875C>G (p.Asn1625Lys)
 gnomAD v4
11g.121145929C>TCA477382958TBCEL-TECTA,TECTAc.3918C>T (p.Asn1306=)
c.1225C>T
n.483C>T
c.4875C>T (p.Asn1625=)
 dbSNP
11g.121145930C>ACA383022785TBCEL-TECTA,TECTAc.3919C>A (p.Gln1307Lys)
c.1226C>A
n.484C>A
c.4876C>A (p.Gln1626Lys)
11g.121145930C>GCA383022786TBCEL-TECTA,TECTAc.3919C>G (p.Gln1307Glu)
c.1226C>G
n.484C>G
c.4876C>G (p.Gln1626Glu)
11g.121145930C>TCA383022787TBCEL-TECTA,TECTAc.3919C>T (p.Gln1307Ter)
c.1226C>T
n.484C>T
c.4876C>T (p.Gln1626Ter)
11g.121145931A>CCA383022788TBCEL-TECTA,TECTAc.3920A>C (p.Gln1307Pro)
c.1227A>C
n.485A>C
c.4877A>C (p.Gln1626Pro)
11g.121145931A>GCA383022789TBCEL-TECTA,TECTAc.3920A>G (p.Gln1307Arg)
c.1227A>G
n.485A>G
c.4877A>G (p.Gln1626Arg)
11g.121145931A>TCA383022790TBCEL-TECTA,TECTAc.3920A>T (p.Gln1307Leu)
c.1227A>T
n.485A>T
c.4877A>T (p.Gln1626Leu)
11g.121145932G>ACA477382961TBCEL-TECTA,TECTAc.3921G>A (p.Gln1307=)
c.1228G>A
n.486G>A
c.4878G>A (p.Gln1626=)
11g.121145932G>CCA383022791TBCEL-TECTA,TECTAc.3921G>C (p.Gln1307His)
c.1228G>C
n.486G>C
c.4878G>C (p.Gln1626His)
11g.121145932G>TCA383022792TBCEL-TECTA,TECTAc.3921G>T (p.Gln1307His)
c.1228G>T
n.486G>T
c.4878G>T (p.Gln1626His)
11g.121145933A>CCA383022793TBCEL-TECTA,TECTAc.3922A>C (p.Asn1308His)
c.1229A>C
n.487A>C
c.4879A>C (p.Asn1627His)
11g.121145933A>GCA383022794TBCEL-TECTA,TECTAc.3922A>G (p.Asn1308Asp)
c.1229A>G
n.487A>G
c.4879A>G (p.Asn1627Asp)
11g.121145933A>TCA383022795TBCEL-TECTA,TECTAc.3922A>T (p.Asn1308Tyr)
c.1229A>T
n.487A>T
c.4879A>T (p.Asn1627Tyr)
11g.121145933_121145942delinsAACGCTGCCTCA2004737597TBCEL-TECTA,TECTAc.3922_3931delinsAACGCTGCCT (p.Asn1308=)
c.1229_1238delinsAACGCTGCCT
n.487_496delinsAACGCTGCCT
c.4879_4888delinsAACGCTGCCT (p.Asn1627=)
11g.121145934A>CCA383022796TBCEL-TECTA,TECTAc.3923A>C (p.Asn1308Thr)
c.1230A>C
n.488A>C
c.4880A>C (p.Asn1627Thr)
11g.121145934A>GCA383022797TBCEL-TECTA,TECTAc.3923A>G (p.Asn1308Ser)
c.1230A>G
n.488A>G
c.4880A>G (p.Asn1627Ser)
11g.121145934A>TCA383022798TBCEL-TECTA,TECTAc.3923A>T (p.Asn1308Ile)
c.1230A>T
n.488A>T
c.4880A>T (p.Asn1627Ile)
11g.121145934_121145942delCA2004737598TBCEL-TECTA,TECTAc.3923_3931del (p.Asn1308_Phe1311delinsIle)
c.1230_1238del
n.488_496del
c.4880_4888del (p.Asn1627_Phe1630delinsIle)
 dbSNP
11g.121145935C>ACA383022799TBCEL-TECTA,TECTAc.3924C>A (p.Asn1308Lys)
c.1231C>A
n.489C>A
c.4881C>A (p.Asn1627Lys)
11g.121145935C=CA2004737599TBCEL-TECTA,TECTAc.3924C= (p.Asn1308=)
c.1231C=
n.489C=
c.4881C= (p.Asn1627=)
11g.121145935C>GCA383022800TBCEL-TECTA,TECTAc.3924C>G (p.Asn1308Lys)
c.1231C>G
n.489C>G
c.4881C>G (p.Asn1627Lys)
11g.121145935C>TCA229831666TBCEL-TECTA,TECTAc.3924C>T (p.Asn1308=)
c.1231C>T
n.489C>T
c.4881C>T (p.Asn1627=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121145936G>ACA183713TBCEL-TECTA,TECTAc.3925G>A (p.Ala1309Thr)
c.1232G>A
n.490G>A
c.4882G>A (p.Ala1628Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145936G>CCA383022801TBCEL-TECTA,TECTAc.3925G>C (p.Ala1309Pro)
c.1232G>C
n.490G>C
c.4882G>C (p.Ala1628Pro)
11g.121145936G=CA2004737600TBCEL-TECTA,TECTAc.3925G= (p.Ala1309=)
c.1232G=
n.490G=
c.4882G= (p.Ala1628=)
11g.121145936G>TCA6327312TBCEL-TECTA,TECTAc.3925G>T (p.Ala1309Ser)
c.1232G>T
n.490G>T
c.4882G>T (p.Ala1628Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145937C>ACA383022802TBCEL-TECTA,TECTAc.3926C>A (p.Ala1309Asp)
c.1233C>A
n.491C>A
c.4883C>A (p.Ala1628Asp)
 gnomAD v4
11g.121145937C>GCA383022803TBCEL-TECTA,TECTAc.3926C>G (p.Ala1309Gly)
c.1233C>G
n.491C>G
c.4883C>G (p.Ala1628Gly)
11g.121145937C>TCA383022804TBCEL-TECTA,TECTAc.3926C>T (p.Ala1309Val)
c.1233C>T
n.491C>T
c.4883C>T (p.Ala1628Val)
11g.121145938T>ACA477382970TBCEL-TECTA,TECTAc.3927T>A (p.Ala1309=)
c.1234T>A
n.492T>A
c.4884T>A (p.Ala1628=)
 gnomAD v4
11g.121145938T>CCA477382971TBCEL-TECTA,TECTAc.3927T>C (p.Ala1309=)
c.1234T>C
n.492T>C
c.4884T>C (p.Ala1628=)
11g.121145938T>GCA477382969TBCEL-TECTA,TECTAc.3927T>G (p.Ala1309=)
c.1234T>G
n.492T>G
c.4884T>G (p.Ala1628=)
11g.121145939G>ACA383022805TBCEL-TECTA,TECTAc.3928G>A (p.Ala1310Thr)
c.1235G>A
n.493G>A
c.4885G>A (p.Ala1629Thr)
11g.121145939G>CCA383022806TBCEL-TECTA,TECTAc.3928G>C (p.Ala1310Pro)
c.1235G>C
n.493G>C
c.4885G>C (p.Ala1629Pro)
11g.121145939G>TCA383022807TBCEL-TECTA,TECTAc.3928G>T (p.Ala1310Ser)
c.1235G>T
n.493G>T
c.4885G>T (p.Ala1629Ser)
 COSMIC
11g.121145940C>ACA383022808TBCEL-TECTA,TECTAc.3929C>A (p.Ala1310Asp)
c.1236C>A
n.494C>A
c.4886C>A (p.Ala1629Asp)
11g.121145940C>GCA383022809TBCEL-TECTA,TECTAc.3929C>G (p.Ala1310Gly)
c.1236C>G
n.494C>G
c.4886C>G (p.Ala1629Gly)
11g.121145940C>TCA383022810TBCEL-TECTA,TECTAc.3929C>T (p.Ala1310Val)
c.1236C>T
n.494C>T
c.4886C>T (p.Ala1629Val)
11g.121145941C>ACA477382973TBCEL-TECTA,TECTAc.3930C>A (p.Ala1310=)
c.1237C>A
n.495C>A
c.4887C>A (p.Ala1629=)
11g.121145941C>GCA477382974TBCEL-TECTA,TECTAc.3930C>G (p.Ala1310=)
c.1237C>G
n.495C>G
c.4887C>G (p.Ala1629=)
11g.121145941C>TCA477382976TBCEL-TECTA,TECTAc.3930C>T (p.Ala1310=)
c.1237C>T
n.495C>T
c.4887C>T (p.Ala1629=)
11g.121145942T>ACA383022811TBCEL-TECTA,TECTAc.3931T>A (p.Phe1311Ile)
c.1238T>A
n.496T>A
c.4888T>A (p.Phe1630Ile)
11g.121145942T>CCA383022813TBCEL-TECTA,TECTAc.3931T>C (p.Phe1311Leu)
c.1238T>C
n.496T>C
c.4888T>C (p.Phe1630Leu)
11g.121145942T>GCA383022812TBCEL-TECTA,TECTAc.3931T>G (p.Phe1311Val)
c.1238T>G
n.496T>G
c.4888T>G (p.Phe1630Val)
11g.121145943T>ACA383022814TBCEL-TECTA,TECTAc.3932T>A (p.Phe1311Tyr)
c.1239T>A
n.497T>A
c.4889T>A (p.Phe1630Tyr)
11g.121145943T>CCA383022815TBCEL-TECTA,TECTAc.3932T>C (p.Phe1311Ser)
c.1239T>C
n.497T>C
c.4889T>C (p.Phe1630Ser)
11g.121145943T>GCA383022816TBCEL-TECTA,TECTAc.3932T>G (p.Phe1311Cys)
c.1239T>G
n.497T>G
c.4889T>G (p.Phe1630Cys)
11g.121145944C>ACA383022817TBCEL-TECTA,TECTAc.3933C>A (p.Phe1311Leu)
c.1240C>A
n.498C>A
c.4890C>A (p.Phe1630Leu)
 gnomAD v4
11g.121145944C=CA2004737601TBCEL-TECTA,TECTAc.3933C= (p.Phe1311=)
c.1240C=
n.498C=
c.4890C= (p.Phe1630=)
11g.121145944C>GCA6327313TBCEL-TECTA,TECTAc.3933C>G (p.Phe1311Leu)
c.1240C>G
n.498C>G
c.4890C>G (p.Phe1630Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145944C>TCA477382981TBCEL-TECTA,TECTAc.3933C>T (p.Phe1311=)
c.1240C>T
n.498C>T
c.4890C>T (p.Phe1630=)
 dbSNP
11g.121145945T>ACA383022818TBCEL-TECTA,TECTAc.3934T>A (p.Ser1312Thr)
c.1241T>A
n.499T>A
c.4891T>A (p.Ser1631Thr)
11g.121145945T>CCA383022819TBCEL-TECTA,TECTAc.3934T>C (p.Ser1312Pro)
c.1241T>C
n.499T>C
c.4891T>C (p.Ser1631Pro)
11g.121145945T>GCA383022820TBCEL-TECTA,TECTAc.3934T>G (p.Ser1312Ala)
c.1241T>G
n.499T>G
c.4891T>G (p.Ser1631Ala)
11g.121145946C>ACA383022821TBCEL-TECTA,TECTAc.3935C>A (p.Ser1312Tyr)
c.1242C>A
n.500C>A
c.4892C>A (p.Ser1631Tyr)
11g.121145946C>GCA383022822TBCEL-TECTA,TECTAc.3935C>G (p.Ser1312Cys)
c.1242C>G
n.500C>G
c.4892C>G (p.Ser1631Cys)
11g.121145946C>TCA383022823TBCEL-TECTA,TECTAc.3935C>T (p.Ser1312Phe)
c.1242C>T
n.500C>T
c.4892C>T (p.Ser1631Phe)
 gnomAD v4
11g.121145947C>ACA477382986TBCEL-TECTA,TECTAc.3936C>A (p.Ser1312=)
c.1243C>A
n.501C>A
c.4893C>A (p.Ser1631=)
11g.121145947C=CA2004737602TBCEL-TECTA,TECTAc.3936C= (p.Ser1312=)
c.1243C=
n.501C=
c.4893C= (p.Ser1631=)
11g.121145947C>GCA477382987TBCEL-TECTA,TECTAc.3936C>G (p.Ser1312=)
c.1243C>G
n.501C>G
c.4893C>G (p.Ser1631=)
11g.121145947C>TCA6327314TBCEL-TECTA,TECTAc.3936C>T (p.Ser1312=)
c.1243C>T
n.501C>T
c.4893C>T (p.Ser1631=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145948A>CCA383022825TBCEL-TECTA,TECTAc.3937A>C (p.Lys1313Gln)
c.1244A>C
n.502A>C
c.4894A>C (p.Lys1632Gln)
11g.121145948A>GCA383022826TBCEL-TECTA,TECTAc.3937A>G (p.Lys1313Glu)
c.1244A>G
n.502A>G
c.4894A>G (p.Lys1632Glu)
11g.121145948A>TCA383022824TBCEL-TECTA,TECTAc.3937A>T (p.Lys1313Ter)
c.1244A>T
n.502A>T
c.4894A>T (p.Lys1632Ter)
11g.121145948_121145949insGCTCTCA2616488597TBCEL-TECTA,TECTAc.3937_3938insGCTCT (p.Lys1313SerfsTer?)
c.1244_1245insGCTCT
n.502_503insGCTCT
c.4894_4895insGCTCT (p.Lys1632SerfsTer?)
 gnomAD v4
11g.121145949A=CA2004737603TBCEL-TECTA,TECTAc.3938A= (p.Lys1313=)
c.1245A=
n.503A=
c.4895A= (p.Lys1632=)
11g.121145949A>CCA383022827TBCEL-TECTA,TECTAc.3938A>C (p.Lys1313Thr)
c.1245A>C
n.503A>C
c.4895A>C (p.Lys1632Thr)
11g.121145949A>GCA383022828TBCEL-TECTA,TECTAc.3938A>G (p.Lys1313Arg)
c.1245A>G
n.503A>G
c.4895A>G (p.Lys1632Arg)
 dbSNP gnomAD v4
11g.121145949A>TCA383022829TBCEL-TECTA,TECTAc.3938A>T (p.Lys1313Met)
c.1245A>T
n.503A>T
c.4895A>T (p.Lys1632Met)
11g.121145949_121145950insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTGCA2616488598TBCEL-TECTA,TECTAc.3938_3939insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG (p.Lys1313AsnfsTer27)
c.1245_1246insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG
n.503_504insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG
c.4895_4896insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG (p.Lys1632AsnfsTer27)
 gnomAD v4
11g.121145950G>ACA477382991TBCEL-TECTA,TECTAc.3939G>A (p.Lys1313=)
c.1246G>A
n.504G>A
c.4896G>A (p.Lys1632=)
 gnomAD v4
11g.121145950G>CCA383022830TBCEL-TECTA,TECTAc.3939G>C (p.Lys1313Asn)
c.1246G>C
n.504G>C
c.4896G>C (p.Lys1632Asn)
11g.121145950G>TCA383022831TBCEL-TECTA,TECTAc.3939G>T (p.Lys1313Asn)
c.1246G>T
n.504G>T
c.4896G>T (p.Lys1632Asn)
11g.121145951T>ACA383022833TBCEL-TECTA,TECTAc.3940T>A (p.Cys1314Ser)
c.1247T>A
n.505T>A
c.4897T>A (p.Cys1633Ser)
 dbSNP gnomAD v4
11g.121145951T>CCA6327315TBCEL-TECTA,TECTAc.3940T>C (p.Cys1314Arg)
c.1247T>C
n.505T>C
c.4897T>C (p.Cys1633Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145951T>GCA383022832TBCEL-TECTA,TECTAc.3940T>G (p.Cys1314Gly)
c.1247T>G
n.505T>G
c.4897T>G (p.Cys1633Gly)
11g.121145951T=CA2004737604TBCEL-TECTA,TECTAc.3940T= (p.Cys1314=)
c.1247T=
n.505T=
c.4897T= (p.Cys1633=)
11g.121145952G>ACA383022834TBCEL-TECTA,TECTAc.3941G>A (p.Cys1314Tyr)
c.1248G>A
n.506G>A
c.4898G>A (p.Cys1633Tyr)
11g.121145952G>CCA383022835TBCEL-TECTA,TECTAc.3941G>C (p.Cys1314Ser)
c.1248G>C
n.506G>C
c.4898G>C (p.Cys1633Ser)
11g.121145952G>TCA383022836TBCEL-TECTA,TECTAc.3941G>T (p.Cys1314Phe)
c.1248G>T
n.506G>T
c.4898G>T (p.Cys1633Phe)
11g.121145953T>ACA229831697TBCEL-TECTA,TECTAc.3942T>A (p.Cys1314Ter)
c.1249T>A
n.507T>A
c.4899T>A (p.Cys1633Ter)
 dbSNP
11g.121145953T>CCA477382998TBCEL-TECTA,TECTAc.3942T>C (p.Cys1314=)
c.1249T>C
n.507T>C
c.4899T>C (p.Cys1633=)
11g.121145953T>GCA383022837TBCEL-TECTA,TECTAc.3942T>G (p.Cys1314Trp)
c.1249T>G
n.507T>G
c.4899T>G (p.Cys1633Trp)
11g.121145953T=CA2004737605TBCEL-TECTA,TECTAc.3942T= (p.Cys1314=)
c.1249T=
n.507T=
c.4899T= (p.Cys1633=)
11g.121145954C>ACA383022840TBCEL-TECTA,TECTAc.3943C>A (p.His1315Asn)
c.1250C>A
n.508C>A
c.4900C>A (p.His1634Asn)
11g.121145954C>GCA383022838TBCEL-TECTA,TECTAc.3943C>G (p.His1315Asp)
c.1250C>G
n.508C>G
c.4900C>G (p.His1634Asp)
11g.121145954C>TCA383022839TBCEL-TECTA,TECTAc.3943C>T (p.His1315Tyr)
c.1250C>T
n.508C>T
c.4900C>T (p.His1634Tyr)
11g.121145955A>CCA383022841TBCEL-TECTA,TECTAc.3944A>C (p.His1315Pro)
c.1251A>C
n.509A>C
c.4901A>C (p.His1634Pro)
11g.121145955A>GCA383022842TBCEL-TECTA,TECTAc.3944A>G (p.His1315Arg)
c.1251A>G
n.509A>G
c.4901A>G (p.His1634Arg)
11g.121145955A>TCA383022843TBCEL-TECTA,TECTAc.3944A>T (p.His1315Leu)
c.1251A>T
n.509A>T
c.4901A>T (p.His1634Leu)
 COSMIC
11g.121145956C>ACA383022844TBCEL-TECTA,TECTAc.3945C>A (p.His1315Gln)
c.1252C>A
n.510C>A
c.4902C>A (p.His1634Gln)
11g.121145956C=CA2004737606TBCEL-TECTA,TECTAc.3945C= (p.His1315=)
c.1252C=
n.510C=
c.4902C= (p.His1634=)
11g.121145956C>GCA383022845TBCEL-TECTA,TECTAc.3945C>G (p.His1315Gln)
c.1252C>G
n.510C>G
c.4902C>G (p.His1634Gln)
11g.121145956C>TCA6327316TBCEL-TECTA,TECTAc.3945C>T (p.His1315=)
c.1252C>T
n.510C>T
c.4902C>T (p.His1634=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145957A>CCA383022848TBCEL-TECTA,TECTAc.3946A>C (p.Ser1316Arg)
c.1253A>C
n.511A>C
c.4903A>C (p.Ser1635Arg)
11g.121145957A>GCA383022847TBCEL-TECTA,TECTAc.3946A>G (p.Ser1316Gly)
c.1253A>G
n.511A>G
c.4903A>G (p.Ser1635Gly)
11g.121145957A>TCA383022846TBCEL-TECTA,TECTAc.3946A>T (p.Ser1316Cys)
c.1253A>T
n.511A>T
c.4903A>T (p.Ser1635Cys)
11g.121145958G>ACA383022849TBCEL-TECTA,TECTAc.3947G>A (p.Ser1316Asn)
c.1254G>A
n.512G>A
c.4904G>A (p.Ser1635Asn)
 dbSNP gnomAD v4
11g.121145958G>CCA383022850TBCEL-TECTA,TECTAc.3947G>C (p.Ser1316Thr)
c.1254G>C
n.512G>C
c.4904G>C (p.Ser1635Thr)
 ClinVar dbSNP
11g.121145958G=CA2004737607TBCEL-TECTA,TECTAc.3947G= (p.Ser1316=)
c.1254G=
n.512G=
c.4904G= (p.Ser1635=)
11g.121145958G>TCA383022851TBCEL-TECTA,TECTAc.3947G>T (p.Ser1316Ile)
c.1254G>T
n.512G>T
c.4904G>T (p.Ser1635Ile)
11g.121145959C>ACA383022852TBCEL-TECTA,TECTAc.3948C>A (p.Ser1316Arg)
c.1255C>A
n.513C>A
c.4905C>A (p.Ser1635Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.121145959C=CA2004737608TBCEL-TECTA,TECTAc.3948C= (p.Ser1316=)
c.1255C=
n.513C=
c.4905C= (p.Ser1635=)
11g.121145959C>GCA383022853TBCEL-TECTA,TECTAc.3948C>G (p.Ser1316Arg)
c.1255C>G
n.513C>G
c.4905C>G (p.Ser1635Arg)
11g.121145959C>TCA477383002TBCEL-TECTA,TECTAc.3948C>T (p.Ser1316=)
c.1255C>T
n.513C>T
c.4905C>T (p.Ser1635=)
11g.121145959_121145961delinsCAACA2004737609TBCEL-TECTA,TECTAc.3948_3950delinsCAA (p.Ser1316=)
c.1255_1257delinsCAA
n.513_515delinsCAA
c.4905_4907delinsCAA (p.Ser1635=)
11g.121145960A>CCA383022856TBCEL-TECTA,TECTAc.3949A>C (p.Lys1317Gln)
c.1256A>C
n.514A>C
c.4906A>C (p.Lys1636Gln)
11g.121145960A>GCA383022854TBCEL-TECTA,TECTAc.3949A>G (p.Lys1317Glu)
c.1256A>G
n.514A>G
c.4906A>G (p.Lys1636Glu)
11g.121145960A>TCA383022855TBCEL-TECTA,TECTAc.3949A>T (p.Lys1317Ter)
c.1256A>T
n.514A>T
c.4906A>T (p.Lys1636Ter)
11g.121145961_121145962delCA229831701TBCEL-TECTA,TECTAc.3950_3951del (p.Lys1317SerfsTer2)
c.1257_1258del
n.515_516del
c.4907_4908del (p.Lys1636SerfsTer2)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121145961A>CCA383022857TBCEL-TECTA,TECTAc.3950A>C (p.Lys1317Thr)
c.1257A>C
n.515A>C
c.4907A>C (p.Lys1636Thr)
11g.121145961A>GCA383022858TBCEL-TECTA,TECTAc.3950A>G (p.Lys1317Arg)
c.1257A>G
n.515A>G
c.4907A>G (p.Lys1636Arg)
11g.121145961A>TCA383022859TBCEL-TECTA,TECTAc.3950A>T (p.Lys1317Ile)
c.1257A>T
n.515A>T
c.4907A>T (p.Lys1636Ile)
11g.121145962A>CCA383022860TBCEL-TECTA,TECTAc.3951A>C (p.Lys1317Asn)
c.1258A>C
n.516A>C
c.4908A>C (p.Lys1636Asn)
11g.121145962A>GCA477383120TBCEL-TECTA,TECTAc.3951A>G (p.Lys1317=)
c.1258A>G
n.516A>G
c.4908A>G (p.Lys1636=)
11g.121145962A>TCA383022861TBCEL-TECTA,TECTAc.3951A>T (p.Lys1317Asn)
c.1258A>T
n.516A>T
c.4908A>T (p.Lys1636Asn)
11g.121145963G>ACA383022862TBCEL-TECTA,TECTAc.3952G>A (p.Val1318Ile)
c.1259G>A
n.517G>A
c.4909G>A (p.Val1637Ile)
11g.121145963G>CCA383022863TBCEL-TECTA,TECTAc.3952G>C (p.Val1318Leu)
c.1259G>C
n.517G>C
c.4909G>C (p.Val1637Leu)
11g.121145963G>TCA383022864TBCEL-TECTA,TECTAc.3952G>T (p.Val1318Phe)
c.1259G>T
n.517G>T
c.4909G>T (p.Val1637Phe)
11g.121145964T>ACA383022865TBCEL-TECTA,TECTAc.3953T>A (p.Val1318Asp)
c.1260T>A
n.518T>A
c.4910T>A (p.Val1637Asp)
11g.121145964T>CCA383022866TBCEL-TECTA,TECTAc.3953T>C (p.Val1318Ala)
c.1260T>C
n.518T>C
c.4910T>C (p.Val1637Ala)
11g.121145964T>GCA383022867TBCEL-TECTA,TECTAc.3953T>G (p.Val1318Gly)
c.1260T>G
n.518T>G
c.4910T>G (p.Val1637Gly)
 COSMIC
11g.121145965T>ACA477383125TBCEL-TECTA,TECTAc.3954T>A (p.Val1318=)
c.1261T>A
n.519T>A
c.4911T>A (p.Val1637=)
11g.121145965T>CCA477383123TBCEL-TECTA,TECTAc.3954T>C (p.Val1318=)
c.1261T>C
n.519T>C
c.4911T>C (p.Val1637=)
 gnomAD v4
11g.121145965T>GCA477383124TBCEL-TECTA,TECTAc.3954T>G (p.Val1318=)
c.1261T>G
n.519T>G
c.4911T>G (p.Val1637=)
11g.121145966A>CCA383022868TBCEL-TECTA,TECTAc.3955A>C (p.Asn1319His)
c.1262A>C
n.520A>C
c.4912A>C (p.Asn1638His)
11g.121145966A>GCA383022870TBCEL-TECTA,TECTAc.3955A>G (p.Asn1319Asp)
c.1262A>G
n.520A>G
c.4912A>G (p.Asn1638Asp)
11g.121145966A>TCA383022869TBCEL-TECTA,TECTAc.3955A>T (p.Asn1319Tyr)
c.1262A>T
n.520A>T
c.4912A>T (p.Asn1638Tyr)
11g.121145967A>CCA383022871TBCEL-TECTA,TECTAc.3956A>C (p.Asn1319Thr)
c.1263A>C
n.521A>C
c.4913A>C (p.Asn1638Thr)
11g.121145967A>GCA383022872TBCEL-TECTA,TECTAc.3956A>G (p.Asn1319Ser)
c.1263A>G
n.521A>G
c.4913A>G (p.Asn1638Ser)
11g.121145967A>TCA383022873TBCEL-TECTA,TECTAc.3956A>T (p.Asn1319Ile)
c.1263A>T
n.521A>T
c.4913A>T (p.Asn1638Ile)
11g.121145968C>ACA383022874TBCEL-TECTA,TECTAc.3957C>A (p.Asn1319Lys)
c.1264C>A
n.522C>A
c.4914C>A (p.Asn1638Lys)
11g.121145968C=CA2004737610TBCEL-TECTA,TECTAc.3957C= (p.Asn1319=)
c.1264C=
n.522C=
c.4914C= (p.Asn1638=)
11g.121145968C>GCA229831711TBCEL-TECTA,TECTAc.3957C>G (p.Asn1319Lys)
c.1264C>G
n.522C>G
c.4914C>G (p.Asn1638Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121145968C>TCA477383128TBCEL-TECTA,TECTAc.3957C>T (p.Asn1319=)
c.1264C>T
n.522C>T
c.4914C>T (p.Asn1638=)
11g.121145969C>ACA383022875TBCEL-TECTA,TECTAc.3958C>A (p.Pro1320Thr)
c.1265C>A
n.523C>A
c.4915C>A (p.Pro1639Thr)
11g.121145969C=CA2004737611TBCEL-TECTA,TECTAc.3958C= (p.Pro1320=)
c.1265C=
n.523C=
c.4915C= (p.Pro1639=)
11g.121145969C>GCA6327318TBCEL-TECTA,TECTAc.3958C>G (p.Pro1320Ala)
c.1265C>G
n.523C>G
c.4915C>G (p.Pro1639Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145969C>TCA6327317TBCEL-TECTA,TECTAc.3958C>T (p.Pro1320Ser)
c.1265C>T
n.523C>T
c.4915C>T (p.Pro1639Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145970C>ACA383022876TBCEL-TECTA,TECTAc.3959C>A (p.Pro1320His)
c.1266C>A
n.524C>A
c.4916C>A (p.Pro1639His)
11g.121145970C>GCA383022877TBCEL-TECTA,TECTAc.3959C>G (p.Pro1320Arg)
c.1266C>G
n.524C>G
c.4916C>G (p.Pro1639Arg)
11g.121145970C>TCA383022878TBCEL-TECTA,TECTAc.3959C>T (p.Pro1320Leu)
c.1266C>T
n.524C>T
c.4916C>T (p.Pro1639Leu)
 COSMIC
11g.121145971C>ACA477383129TBCEL-TECTA,TECTAc.3960C>A (p.Pro1320=)
c.1267C>A
n.525C>A
c.4917C>A (p.Pro1639=)
11g.121145971C=CA2004737612TBCEL-TECTA,TECTAc.3960C= (p.Pro1320=)
c.1267C=
n.525C=
c.4917C= (p.Pro1639=)
11g.121145971C>GCA6327319TBCEL-TECTA,TECTAc.3960C>G (p.Pro1320=)
c.1267C>G
n.525C>G
c.4917C>G (p.Pro1639=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145971C>TCA477383131TBCEL-TECTA,TECTAc.3960C>T (p.Pro1320=)
c.1267C>T
n.525C>T
c.4917C>T (p.Pro1639=)
11g.121145972delCA2575008440TBCEL-TECTA,TECTAc.3961del (p.Thr1321ProfsTer?)
c.1268del
n.526del
c.4918del (p.Thr1640ProfsTer?)
11g.121145972A>CCA383022881TBCEL-TECTA,TECTAc.3961A>C (p.Thr1321Pro)
c.1268A>C
n.526A>C
c.4918A>C (p.Thr1640Pro)
11g.121145972A>GCA383022880TBCEL-TECTA,TECTAc.3961A>G (p.Thr1321Ala)
c.1268A>G
n.526A>G
c.4918A>G (p.Thr1640Ala)
11g.121145972A>TCA383022879TBCEL-TECTA,TECTAc.3961A>T (p.Thr1321Ser)
c.1268A>T
n.526A>T
c.4918A>T (p.Thr1640Ser)
11g.121145973C>ACA383022882TBCEL-TECTA,TECTAc.3962C>A (p.Thr1321Asn)
c.1269C>A
n.527C>A
c.4919C>A (p.Thr1640Asn)
11g.121145973C=CA2004737613TBCEL-TECTA,TECTAc.3962C= (p.Thr1321=)
c.1269C=
n.527C=
c.4919C= (p.Thr1640=)
11g.121145973C>GCA383022883TBCEL-TECTA,TECTAc.3962C>G (p.Thr1321Ser)
c.1269C>G
n.527C>G
c.4919C>G (p.Thr1640Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.121145973C>TCA383022884TBCEL-TECTA,TECTAc.3962C>T (p.Thr1321Ile)
c.1269C>T
n.527C>T
c.4919C>T (p.Thr1640Ile)
 dbSNP gnomAD v4
11g.121145974C>ACA6327320TBCEL-TECTA,TECTAc.3963C>A (p.Thr1321=)
c.1270C>A
n.528C>A
c.4920C>A (p.Thr1640=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145974C=CA2004737614TBCEL-TECTA,TECTAc.3963C= (p.Thr1321=)
c.1270C=
n.528C=
c.4920C= (p.Thr1640=)
11g.121145974C>GCA477383132TBCEL-TECTA,TECTAc.3963C>G (p.Thr1321=)
c.1270C>G
n.528C>G
c.4920C>G (p.Thr1640=)
11g.121145974C>TCA477383133TBCEL-TECTA,TECTAc.3963C>T (p.Thr1321=)
c.1270C>T
n.528C>T
c.4920C>T (p.Thr1640=)
11g.121145975T>ACA383022885TBCEL-TECTA,TECTAc.3964T>A (p.Phe1322Ile)
c.1271T>A
n.529T>A
c.4921T>A (p.Phe1641Ile)
11g.121145975T>CCA383022886TBCEL-TECTA,TECTAc.3964T>C (p.Phe1322Leu)
c.1271T>C
n.529T>C
c.4921T>C (p.Phe1641Leu)
11g.121145975T>GCA383022887TBCEL-TECTA,TECTAc.3964T>G (p.Phe1322Val)
c.1271T>G
n.529T>G
c.4921T>G (p.Phe1641Val)
 dbSNP
11g.121145975T=CA2004737615TBCEL-TECTA,TECTAc.3964T= (p.Phe1322=)
c.1271T=
n.529T=
c.4921T= (p.Phe1641=)
11g.121145976T>ACA383022888TBCEL-TECTA,TECTAc.3965T>A (p.Phe1322Tyr)
c.1272T>A
n.530T>A
c.4922T>A (p.Phe1641Tyr)
11g.121145976T>CCA383022889TBCEL-TECTA,TECTAc.3965T>C (p.Phe1322Ser)
c.1272T>C
n.530T>C
c.4922T>C (p.Phe1641Ser)
11g.121145976T>GCA383022890TBCEL-TECTA,TECTAc.3965T>G (p.Phe1322Cys)
c.1272T>G
n.530T>G
c.4922T>G (p.Phe1641Cys)
11g.121145977C>ACA383022891TBCEL-TECTA,TECTAc.3966C>A (p.Phe1322Leu)
c.1273C>A
n.531C>A
c.4923C>A (p.Phe1641Leu)
11g.121145977C>GCA383022892TBCEL-TECTA,TECTAc.3966C>G (p.Phe1322Leu)
c.1273C>G
n.531C>G
c.4923C>G (p.Phe1641Leu)
11g.121145977C>TCA477383134TBCEL-TECTA,TECTAc.3966C>T (p.Phe1322=)
c.1273C>T
n.531C>T
c.4923C>T (p.Phe1641=)

Number of alleles fetched