Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.78708470G>ACA6206875TENM4c.4100C>T (p.Thr1367Ile)
c.4148C>T (p.Thr1383Ile)
c.4127C>T (p.Thr1376Ile)
c.4073C>T (p.Thr1358Ile)
c.4049C>T (p.Thr1350Ile)
c.3944C>T (p.Thr1315Ile)
c.2987C>T (p.Thr996Ile)
c.1601C>T (p.Thr534Ile)
c.1544C>T (p.Thr515Ile)
c.-2C>T (n.-2C>T)
c.4175C>T (p.Thr1392Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.78708470G>CCA382149403TENM4c.4100C>G (p.Thr1367Ser)
c.4148C>G (p.Thr1383Ser)
c.4127C>G (p.Thr1376Ser)
c.4073C>G (p.Thr1358Ser)
c.4049C>G (p.Thr1350Ser)
c.3944C>G (p.Thr1315Ser)
c.2987C>G (p.Thr996Ser)
c.1601C>G (p.Thr534Ser)
c.1544C>G (p.Thr515Ser)
c.-2C>G (n.-2C>G)
c.4175C>G (p.Thr1392Ser)
11g.78708470G=CA1984826663TENM4c.4100C= (p.Thr1367=)
c.4148C= (p.Thr1383=)
c.4127C= (p.Thr1376=)
c.4073C= (p.Thr1358=)
c.4049C= (p.Thr1350=)
c.3944C= (p.Thr1315=)
c.2987C= (p.Thr996=)
c.1601C= (p.Thr534=)
c.1544C= (p.Thr515=)
c.-2C= (n.-2C=)
c.4175C= (p.Thr1392=)
11g.78708470G>TCA251317TENM4c.4100C>A (p.Thr1367Asn)
c.4148C>A (p.Thr1383Asn)
c.4127C>A (p.Thr1376Asn)
c.4073C>A (p.Thr1358Asn)
c.4049C>A (p.Thr1350Asn)
c.3944C>A (p.Thr1315Asn)
c.2987C>A (p.Thr996Asn)
c.1601C>A (p.Thr534Asn)
c.1544C>A (p.Thr515Asn)
c.-2C>A (n.-2C>A)
c.4175C>A (p.Thr1392Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.78708471T>ACA382149410TENM4c.4099A>T (p.Thr1367Ser)
c.4147A>T (p.Thr1383Ser)
c.4126A>T (p.Thr1376Ser)
c.4072A>T (p.Thr1358Ser)
c.4048A>T (p.Thr1350Ser)
c.3943A>T (p.Thr1315Ser)
c.2986A>T (p.Thr996Ser)
c.1600A>T (p.Thr534Ser)
c.1543A>T (p.Thr515Ser)
c.-3A>T (n.-3A>T)
c.4174A>T (p.Thr1392Ser)
 dbSNP
11g.78708471T>CCA382149409TENM4c.4099A>G (p.Thr1367Ala)
c.4147A>G (p.Thr1383Ala)
c.4126A>G (p.Thr1376Ala)
c.4072A>G (p.Thr1358Ala)
c.4048A>G (p.Thr1350Ala)
c.3943A>G (p.Thr1315Ala)
c.2986A>G (p.Thr996Ala)
c.1600A>G (p.Thr534Ala)
c.1543A>G (p.Thr515Ala)
c.-3A>G (n.-3A>G)
c.4174A>G (p.Thr1392Ala)
11g.78708471T>GCA382149407TENM4c.4099A>C (p.Thr1367Pro)
c.4147A>C (p.Thr1383Pro)
c.4126A>C (p.Thr1376Pro)
c.4072A>C (p.Thr1358Pro)
c.4048A>C (p.Thr1350Pro)
c.3943A>C (p.Thr1315Pro)
c.2986A>C (p.Thr996Pro)
c.1600A>C (p.Thr534Pro)
c.1543A>C (p.Thr515Pro)
c.-3A>C (n.-3A>C)
c.4174A>C (p.Thr1392Pro)
11g.78708471T=CA1984826669TENM4c.4099A= (p.Thr1367=)
c.4147A= (p.Thr1383=)
c.4126A= (p.Thr1376=)
c.4072A= (p.Thr1358=)
c.4048A= (p.Thr1350=)
c.3943A= (p.Thr1315=)
c.2986A= (p.Thr996=)
c.1600A= (p.Thr534=)
c.1543A= (p.Thr515=)
c.-3A= (n.-3A=)
c.4174A= (p.Thr1392=)
11g.78708472G>ACA476007519TENM4c.4098C>T (p.Gly1366=)
c.4146C>T (p.Gly1382=)
c.4125C>T (p.Gly1375=)
c.4071C>T (p.Gly1357=)
c.4047C>T (p.Gly1349=)
c.3942C>T (p.Gly1314=)
c.2985C>T (p.Gly995=)
c.1599C>T (p.Gly533=)
c.1542C>T (p.Gly514=)
c.-4C>T (n.-4C>T)
c.4173C>T (p.Gly1391=)
11g.78708472G>CCA476007520TENM4c.4098C>G (p.Gly1366=)
c.4146C>G (p.Gly1382=)
c.4125C>G (p.Gly1375=)
c.4071C>G (p.Gly1357=)
c.4047C>G (p.Gly1349=)
c.3942C>G (p.Gly1314=)
c.2985C>G (p.Gly995=)
c.1599C>G (p.Gly533=)
c.1542C>G (p.Gly514=)
c.-4C>G (n.-4C>G)
c.4173C>G (p.Gly1391=)
 gnomAD v4
11g.78708472G>TCA476007521TENM4c.4098C>A (p.Gly1366=)
c.4146C>A (p.Gly1382=)
c.4125C>A (p.Gly1375=)
c.4071C>A (p.Gly1357=)
c.4047C>A (p.Gly1349=)
c.3942C>A (p.Gly1314=)
c.2985C>A (p.Gly995=)
c.1599C>A (p.Gly533=)
c.1542C>A (p.Gly514=)
c.-4C>A (n.-4C>A)
c.4173C>A (p.Gly1391=)
11g.78708473C>ACA382149413TENM4c.4097G>T (p.Gly1366Val)
c.4145G>T (p.Gly1382Val)
c.4124G>T (p.Gly1375Val)
c.4070G>T (p.Gly1357Val)
c.4046G>T (p.Gly1349Val)
c.3941G>T (p.Gly1314Val)
c.2984G>T (p.Gly995Val)
c.1598G>T (p.Gly533Val)
c.1541G>T (p.Gly514Val)
c.-5G>T (n.-5G>T)
c.4172G>T (p.Gly1391Val)
11g.78708473C>GCA382149418TENM4c.4097G>C (p.Gly1366Ala)
c.4145G>C (p.Gly1382Ala)
c.4124G>C (p.Gly1375Ala)
c.4070G>C (p.Gly1357Ala)
c.4046G>C (p.Gly1349Ala)
c.3941G>C (p.Gly1314Ala)
c.2984G>C (p.Gly995Ala)
c.1598G>C (p.Gly533Ala)
c.1541G>C (p.Gly514Ala)
c.-5G>C (n.-5G>C)
c.4172G>C (p.Gly1391Ala)
11g.78708473C>TCA382149415TENM4c.4097G>A (p.Gly1366Asp)
c.4145G>A (p.Gly1382Asp)
c.4124G>A (p.Gly1375Asp)
c.4070G>A (p.Gly1357Asp)
c.4046G>A (p.Gly1349Asp)
c.3941G>A (p.Gly1314Asp)
c.2984G>A (p.Gly995Asp)
c.1598G>A (p.Gly533Asp)
c.1541G>A (p.Gly514Asp)
c.-5G>A (n.-5G>A)
c.4172G>A (p.Gly1391Asp)
 gnomAD v4
11g.78708474C>ACA382149421TENM4c.4096G>T (p.Gly1366Cys)
c.4144G>T (p.Gly1382Cys)
c.4123G>T (p.Gly1375Cys)
c.4069G>T (p.Gly1357Cys)
c.4045G>T (p.Gly1349Cys)
c.3940G>T (p.Gly1314Cys)
c.2983G>T (p.Gly995Cys)
c.1597G>T (p.Gly533Cys)
c.1540G>T (p.Gly514Cys)
c.-6G>T (n.-6G>T)
c.4171G>T (p.Gly1391Cys)
11g.78708474C>GCA382149422TENM4c.4096G>C (p.Gly1366Arg)
c.4144G>C (p.Gly1382Arg)
c.4123G>C (p.Gly1375Arg)
c.4069G>C (p.Gly1357Arg)
c.4045G>C (p.Gly1349Arg)
c.3940G>C (p.Gly1314Arg)
c.2983G>C (p.Gly995Arg)
c.1597G>C (p.Gly533Arg)
c.1540G>C (p.Gly514Arg)
c.-6G>C (n.-6G>C)
c.4171G>C (p.Gly1391Arg)
11g.78708474C>TCA382149424TENM4c.4096G>A (p.Gly1366Ser)
c.4144G>A (p.Gly1382Ser)
c.4123G>A (p.Gly1375Ser)
c.4069G>A (p.Gly1357Ser)
c.4045G>A (p.Gly1349Ser)
c.3940G>A (p.Gly1314Ser)
c.2983G>A (p.Gly995Ser)
c.1597G>A (p.Gly533Ser)
c.1540G>A (p.Gly514Ser)
c.-6G>A (n.-6G>A)
c.4171G>A (p.Gly1391Ser)
11g.78708475A=CA1984826672TENM4c.4095T= (p.Asp1365=)
c.4143T= (p.Asp1381=)
c.4122T= (p.Asp1374=)
c.4068T= (p.Asp1356=)
c.4044T= (p.Asp1348=)
c.3939T= (p.Asp1313=)
c.2982T= (p.Asp994=)
c.1596T= (p.Asp532=)
c.1539T= (p.Asp513=)
c.-7T= (n.-7T=)
c.4170T= (p.Asp1390=)
11g.78708475A>CCA382149427TENM4c.4095T>G (p.Asp1365Glu)
c.4143T>G (p.Asp1381Glu)
c.4122T>G (p.Asp1374Glu)
c.4068T>G (p.Asp1356Glu)
c.4044T>G (p.Asp1348Glu)
c.3939T>G (p.Asp1313Glu)
c.2982T>G (p.Asp994Glu)
c.1596T>G (p.Asp532Glu)
c.1539T>G (p.Asp513Glu)
c.-7T>G (n.-7T>G)
c.4170T>G (p.Asp1390Glu)
11g.78708475A>GCA476007522TENM4c.4095T>C (p.Asp1365=)
c.4143T>C (p.Asp1381=)
c.4122T>C (p.Asp1374=)
c.4068T>C (p.Asp1356=)
c.4044T>C (p.Asp1348=)
c.3939T>C (p.Asp1313=)
c.2982T>C (p.Asp994=)
c.1596T>C (p.Asp532=)
c.1539T>C (p.Asp513=)
c.-7T>C (n.-7T>C)
c.4170T>C (p.Asp1390=)
 dbSNP gnomAD v4
11g.78708475A>TCA382149429TENM4c.4095T>A (p.Asp1365Glu)
c.4143T>A (p.Asp1381Glu)
c.4122T>A (p.Asp1374Glu)
c.4068T>A (p.Asp1356Glu)
c.4044T>A (p.Asp1348Glu)
c.3939T>A (p.Asp1313Glu)
c.2982T>A (p.Asp994Glu)
c.1596T>A (p.Asp532Glu)
c.1539T>A (p.Asp513Glu)
c.-7T>A (n.-7T>A)
c.4170T>A (p.Asp1390Glu)
11g.78708476T>ACA382149432TENM4c.4094A>T (p.Asp1365Val)
c.4142A>T (p.Asp1381Val)
c.4121A>T (p.Asp1374Val)
c.4067A>T (p.Asp1356Val)
c.4043A>T (p.Asp1348Val)
c.3938A>T (p.Asp1313Val)
c.2981A>T (p.Asp994Val)
c.1595A>T (p.Asp532Val)
c.1538A>T (p.Asp513Val)
c.-8A>T (n.-8A>T)
c.4169A>T (p.Asp1390Val)
11g.78708476T>CCA382149434TENM4c.4094A>G (p.Asp1365Gly)
c.4142A>G (p.Asp1381Gly)
c.4121A>G (p.Asp1374Gly)
c.4067A>G (p.Asp1356Gly)
c.4043A>G (p.Asp1348Gly)
c.3938A>G (p.Asp1313Gly)
c.2981A>G (p.Asp994Gly)
c.1595A>G (p.Asp532Gly)
c.1538A>G (p.Asp513Gly)
c.-8A>G (n.-8A>G)
c.4169A>G (p.Asp1390Gly)
11g.78708476T>GCA382149436TENM4c.4094A>C (p.Asp1365Ala)
c.4142A>C (p.Asp1381Ala)
c.4121A>C (p.Asp1374Ala)
c.4067A>C (p.Asp1356Ala)
c.4043A>C (p.Asp1348Ala)
c.3938A>C (p.Asp1313Ala)
c.2981A>C (p.Asp994Ala)
c.1595A>C (p.Asp532Ala)
c.1538A>C (p.Asp513Ala)
c.-8A>C (n.-8A>C)
c.4169A>C (p.Asp1390Ala)
11g.78708477C>ACA382149439TENM4c.4093G>T (p.Asp1365Tyr)
c.4141G>T (p.Asp1381Tyr)
c.4120G>T (p.Asp1374Tyr)
c.4066G>T (p.Asp1356Tyr)
c.4042G>T (p.Asp1348Tyr)
c.3937G>T (p.Asp1313Tyr)
c.2980G>T (p.Asp994Tyr)
c.1594G>T (p.Asp532Tyr)
c.1537G>T (p.Asp513Tyr)
c.-9G>T (n.-9G>T)
c.4168G>T (p.Asp1390Tyr)
11g.78708477C>GCA382149441TENM4c.4093G>C (p.Asp1365His)
c.4141G>C (p.Asp1381His)
c.4120G>C (p.Asp1374His)
c.4066G>C (p.Asp1356His)
c.4042G>C (p.Asp1348His)
c.3937G>C (p.Asp1313His)
c.2980G>C (p.Asp994His)
c.1594G>C (p.Asp532His)
c.1537G>C (p.Asp513His)
c.-9G>C (n.-9G>C)
c.4168G>C (p.Asp1390His)
11g.78708477C>TCA382149444TENM4c.4093G>A (p.Asp1365Asn)
c.4141G>A (p.Asp1381Asn)
c.4120G>A (p.Asp1374Asn)
c.4066G>A (p.Asp1356Asn)
c.4042G>A (p.Asp1348Asn)
c.3937G>A (p.Asp1313Asn)
c.2980G>A (p.Asp994Asn)
c.1594G>A (p.Asp532Asn)
c.1537G>A (p.Asp513Asn)
c.-9G>A (n.-9G>A)
c.4168G>A (p.Asp1390Asn)
11g.78708478C>ACA476007523TENM4c.4092G>T (p.Val1364=)
c.4140G>T (p.Val1380=)
c.4119G>T (p.Val1373=)
c.4065G>T (p.Val1355=)
c.4041G>T (p.Val1347=)
c.3936G>T (p.Val1312=)
c.2979G>T (p.Val993=)
c.1593G>T (p.Val531=)
c.1536G>T (p.Val512=)
c.-10G>T (n.-10G>T)
c.4167G>T (p.Val1389=)
11g.78708478C=CA1984826676TENM4c.4092G= (p.Val1364=)
c.4140G= (p.Val1380=)
c.4119G= (p.Val1373=)
c.4065G= (p.Val1355=)
c.4041G= (p.Val1347=)
c.3936G= (p.Val1312=)
c.2979G= (p.Val993=)
c.1593G= (p.Val531=)
c.1536G= (p.Val512=)
c.-10G= (n.-10G=)
c.4167G= (p.Val1389=)
11g.78708478C>GCA476007524TENM4c.4092G>C (p.Val1364=)
c.4140G>C (p.Val1380=)
c.4119G>C (p.Val1373=)
c.4065G>C (p.Val1355=)
c.4041G>C (p.Val1347=)
c.3936G>C (p.Val1312=)
c.2979G>C (p.Val993=)
c.1593G>C (p.Val531=)
c.1536G>C (p.Val512=)
c.-10G>C (n.-10G>C)
c.4167G>C (p.Val1389=)
11g.78708478C>TCA6206876TENM4c.4092G>A (p.Val1364=)
c.4140G>A (p.Val1380=)
c.4119G>A (p.Val1373=)
c.4065G>A (p.Val1355=)
c.4041G>A (p.Val1347=)
c.3936G>A (p.Val1312=)
c.2979G>A (p.Val993=)
c.1593G>A (p.Val531=)
c.1536G>A (p.Val512=)
c.-10G>A (n.-10G>A)
c.4167G>A (p.Val1389=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.78708479A>CCA382149453TENM4c.4091T>G (p.Val1364Gly)
c.4139T>G (p.Val1380Gly)
c.4118T>G (p.Val1373Gly)
c.4064T>G (p.Val1355Gly)
c.4040T>G (p.Val1347Gly)
c.3935T>G (p.Val1312Gly)
c.2978T>G (p.Val993Gly)
c.1592T>G (p.Val531Gly)
c.1535T>G (p.Val512Gly)
c.-11T>G (n.-11T>G)
c.4166T>G (p.Val1389Gly)
11g.78708479A>GCA382149448TENM4c.4091T>C (p.Val1364Ala)
c.4139T>C (p.Val1380Ala)
c.4118T>C (p.Val1373Ala)
c.4064T>C (p.Val1355Ala)
c.4040T>C (p.Val1347Ala)
c.3935T>C (p.Val1312Ala)
c.2978T>C (p.Val993Ala)
c.1592T>C (p.Val531Ala)
c.1535T>C (p.Val512Ala)
c.-11T>C (n.-11T>C)
c.4166T>C (p.Val1389Ala)
11g.78708479A>TCA382149451TENM4c.4091T>A (p.Val1364Glu)
c.4139T>A (p.Val1380Glu)
c.4118T>A (p.Val1373Glu)
c.4064T>A (p.Val1355Glu)
c.4040T>A (p.Val1347Glu)
c.3935T>A (p.Val1312Glu)
c.2978T>A (p.Val993Glu)
c.1592T>A (p.Val531Glu)
c.1535T>A (p.Val512Glu)
c.-11T>A (n.-11T>A)
c.4166T>A (p.Val1389Glu)
11g.78708480C>ACA6206877TENM4c.4090G>T (p.Val1364Leu)
c.4138G>T (p.Val1380Leu)
c.4117G>T (p.Val1373Leu)
c.4063G>T (p.Val1355Leu)
c.4039G>T (p.Val1347Leu)
c.3934G>T (p.Val1312Leu)
c.2977G>T (p.Val993Leu)
c.1591G>T (p.Val531Leu)
c.1534G>T (p.Val512Leu)
c.-12G>T (n.-12G>T)
c.4165G>T (p.Val1389Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.78708480C=CA1984826678TENM4c.4090G= (p.Val1364=)
c.4138G= (p.Val1380=)
c.4117G= (p.Val1373=)
c.4063G= (p.Val1355=)
c.4039G= (p.Val1347=)
c.3934G= (p.Val1312=)
c.2977G= (p.Val993=)
c.1591G= (p.Val531=)
c.1534G= (p.Val512=)
c.-12G= (n.-12G=)
c.4165G= (p.Val1389=)
11g.78708480C>GCA382149458TENM4c.4090G>C (p.Val1364Leu)
c.4138G>C (p.Val1380Leu)
c.4117G>C (p.Val1373Leu)
c.4063G>C (p.Val1355Leu)
c.4039G>C (p.Val1347Leu)
c.3934G>C (p.Val1312Leu)
c.2977G>C (p.Val993Leu)
c.1591G>C (p.Val531Leu)
c.1534G>C (p.Val512Leu)
c.-12G>C (n.-12G>C)
c.4165G>C (p.Val1389Leu)
11g.78708480C>TCA6206878TENM4c.4090G>A (p.Val1364Met)
c.4138G>A (p.Val1380Met)
c.4117G>A (p.Val1373Met)
c.4063G>A (p.Val1355Met)
c.4039G>A (p.Val1347Met)
c.3934G>A (p.Val1312Met)
c.2977G>A (p.Val993Met)
c.1591G>A (p.Val531Met)
c.1534G>A (p.Val512Met)
c.-12G>A (n.-12G>A)
c.4165G>A (p.Val1389Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.78708481G>ACA224954039TENM4c.4089C>T (p.Phe1363=)
c.4137C>T (p.Phe1379=)
c.4116C>T (p.Phe1372=)
c.4062C>T (p.Phe1354=)
c.4038C>T (p.Phe1346=)
c.3933C>T (p.Phe1311=)
c.2976C>T (p.Phe992=)
c.1590C>T (p.Phe530=)
c.1533C>T (p.Phe511=)
c.-13C>T (n.-13C>T)
c.4164C>T (p.Phe1388=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.78708481G>CCA382149461TENM4c.4089C>G (p.Phe1363Leu)
c.4137C>G (p.Phe1379Leu)
c.4116C>G (p.Phe1372Leu)
c.4062C>G (p.Phe1354Leu)
c.4038C>G (p.Phe1346Leu)
c.3933C>G (p.Phe1311Leu)
c.2976C>G (p.Phe992Leu)
c.1590C>G (p.Phe530Leu)
c.1533C>G (p.Phe511Leu)
c.-13C>G (n.-13C>G)
c.4164C>G (p.Phe1388Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.78708481G=CA1984826682TENM4c.4089C= (p.Phe1363=)
c.4137C= (p.Phe1379=)
c.4116C= (p.Phe1372=)
c.4062C= (p.Phe1354=)
c.4038C= (p.Phe1346=)
c.3933C= (p.Phe1311=)
c.2976C= (p.Phe992=)
c.1590C= (p.Phe530=)
c.1533C= (p.Phe511=)
c.-13C= (n.-13C=)
c.4164C= (p.Phe1388=)
11g.78708481G>TCA382149463TENM4c.4089C>A (p.Phe1363Leu)
c.4137C>A (p.Phe1379Leu)
c.4116C>A (p.Phe1372Leu)
c.4062C>A (p.Phe1354Leu)
c.4038C>A (p.Phe1346Leu)
c.3933C>A (p.Phe1311Leu)
c.2976C>A (p.Phe992Leu)
c.1590C>A (p.Phe530Leu)
c.1533C>A (p.Phe511Leu)
c.-13C>A (n.-13C>A)
c.4164C>A (p.Phe1388Leu)
 gnomAD v4
11g.78708482A>CCA382149466TENM4c.4088T>G (p.Phe1363Cys)
c.4136T>G (p.Phe1379Cys)
c.4115T>G (p.Phe1372Cys)
c.4061T>G (p.Phe1354Cys)
c.4037T>G (p.Phe1346Cys)
c.3932T>G (p.Phe1311Cys)
c.2975T>G (p.Phe992Cys)
c.1589T>G (p.Phe530Cys)
c.1532T>G (p.Phe511Cys)
c.-14T>G (n.-14T>G)
c.4163T>G (p.Phe1388Cys)
11g.78708482A>GCA382149468TENM4c.4088T>C (p.Phe1363Ser)
c.4136T>C (p.Phe1379Ser)
c.4115T>C (p.Phe1372Ser)
c.4061T>C (p.Phe1354Ser)
c.4037T>C (p.Phe1346Ser)
c.3932T>C (p.Phe1311Ser)
c.2975T>C (p.Phe992Ser)
c.1589T>C (p.Phe530Ser)
c.1532T>C (p.Phe511Ser)
c.-14T>C (n.-14T>C)
c.4163T>C (p.Phe1388Ser)
11g.78708482A>TCA382149469TENM4c.4088T>A (p.Phe1363Tyr)
c.4136T>A (p.Phe1379Tyr)
c.4115T>A (p.Phe1372Tyr)
c.4061T>A (p.Phe1354Tyr)
c.4037T>A (p.Phe1346Tyr)
c.3932T>A (p.Phe1311Tyr)
c.2975T>A (p.Phe992Tyr)
c.1589T>A (p.Phe530Tyr)
c.1532T>A (p.Phe511Tyr)
c.-14T>A (n.-14T>A)
c.4163T>A (p.Phe1388Tyr)
11g.78708483A>CCA382149472TENM4c.4087T>G (p.Phe1363Val)
c.4135T>G (p.Phe1379Val)
c.4114T>G (p.Phe1372Val)
c.4060T>G (p.Phe1354Val)
c.4036T>G (p.Phe1346Val)
c.3931T>G (p.Phe1311Val)
c.2974T>G (p.Phe992Val)
c.1588T>G (p.Phe530Val)
c.1531T>G (p.Phe511Val)
c.-15T>G (n.-15T>G)
c.4162T>G (p.Phe1388Val)
11g.78708483A>GCA382149474TENM4c.4087T>C (p.Phe1363Leu)
c.4135T>C (p.Phe1379Leu)
c.4114T>C (p.Phe1372Leu)
c.4060T>C (p.Phe1354Leu)
c.4036T>C (p.Phe1346Leu)
c.3931T>C (p.Phe1311Leu)
c.2974T>C (p.Phe992Leu)
c.1588T>C (p.Phe530Leu)
c.1531T>C (p.Phe511Leu)
c.-15T>C (n.-15T>C)
c.4162T>C (p.Phe1388Leu)
11g.78708483A>TCA382149476TENM4c.4087T>A (p.Phe1363Ile)
c.4135T>A (p.Phe1379Ile)
c.4114T>A (p.Phe1372Ile)
c.4060T>A (p.Phe1354Ile)
c.4036T>A (p.Phe1346Ile)
c.3931T>A (p.Phe1311Ile)
c.2974T>A (p.Phe992Ile)
c.1588T>A (p.Phe530Ile)
c.1531T>A (p.Phe511Ile)
c.-15T>A (n.-15T>A)
c.4162T>A (p.Phe1388Ile)
11g.78708484G>ACA476007525TENM4c.4086C>T (p.Tyr1362=)
c.4134C>T (p.Tyr1378=)
c.4113C>T (p.Tyr1371=)
c.4059C>T (p.Tyr1353=)
c.4035C>T (p.Tyr1345=)
c.3930C>T (p.Tyr1310=)
c.2973C>T (p.Tyr991=)
c.1587C>T (p.Tyr529=)
c.1530C>T (p.Tyr510=)
c.-16C>T (n.-16C>T)
c.4161C>T (p.Tyr1387=)
11g.78708484G>CCA382149480TENM4c.4086C>G (p.Tyr1362Ter)
c.4134C>G (p.Tyr1378Ter)
c.4113C>G (p.Tyr1371Ter)
c.4059C>G (p.Tyr1353Ter)
c.4035C>G (p.Tyr1345Ter)
c.3930C>G (p.Tyr1310Ter)
c.2973C>G (p.Tyr991Ter)
c.1587C>G (p.Tyr529Ter)
c.1530C>G (p.Tyr510Ter)
c.-16C>G (n.-16C>G)
c.4161C>G (p.Tyr1387Ter)
11g.78708484G>TCA382149478TENM4c.4086C>A (p.Tyr1362Ter)
c.4134C>A (p.Tyr1378Ter)
c.4113C>A (p.Tyr1371Ter)
c.4059C>A (p.Tyr1353Ter)
c.4035C>A (p.Tyr1345Ter)
c.3930C>A (p.Tyr1310Ter)
c.2973C>A (p.Tyr991Ter)
c.1587C>A (p.Tyr529Ter)
c.1530C>A (p.Tyr510Ter)
c.-16C>A (n.-16C>A)
c.4161C>A (p.Tyr1387Ter)
11g.78708485T>ACA382149483TENM4c.4085A>T (p.Tyr1362Phe)
c.4133A>T (p.Tyr1378Phe)
c.4112A>T (p.Tyr1371Phe)
c.4058A>T (p.Tyr1353Phe)
c.4034A>T (p.Tyr1345Phe)
c.3929A>T (p.Tyr1310Phe)
c.2972A>T (p.Tyr991Phe)
c.1586A>T (p.Tyr529Phe)
c.1529A>T (p.Tyr510Phe)
c.-17A>T (n.-17A>T)
c.4160A>T (p.Tyr1387Phe)
11g.78708485T>CCA6206879TENM4c.4085A>G (p.Tyr1362Cys)
c.4133A>G (p.Tyr1378Cys)
c.4112A>G (p.Tyr1371Cys)
c.4058A>G (p.Tyr1353Cys)
c.4034A>G (p.Tyr1345Cys)
c.3929A>G (p.Tyr1310Cys)
c.2972A>G (p.Tyr991Cys)
c.1586A>G (p.Tyr529Cys)
c.1529A>G (p.Tyr510Cys)
c.-17A>G (n.-17A>G)
c.4160A>G (p.Tyr1387Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.78708485T>GCA382149487TENM4c.4085A>C (p.Tyr1362Ser)
c.4133A>C (p.Tyr1378Ser)
c.4112A>C (p.Tyr1371Ser)
c.4058A>C (p.Tyr1353Ser)
c.4034A>C (p.Tyr1345Ser)
c.3929A>C (p.Tyr1310Ser)
c.2972A>C (p.Tyr991Ser)
c.1586A>C (p.Tyr529Ser)
c.1529A>C (p.Tyr510Ser)
c.-17A>C (n.-17A>C)
c.4160A>C (p.Tyr1387Ser)
11g.78708485T=CA1984826688TENM4c.4085A= (p.Tyr1362=)
c.4133A= (p.Tyr1378=)
c.4112A= (p.Tyr1371=)
c.4058A= (p.Tyr1353=)
c.4034A= (p.Tyr1345=)
c.3929A= (p.Tyr1310=)
c.2972A= (p.Tyr991=)
c.1586A= (p.Tyr529=)
c.1529A= (p.Tyr510=)
c.-17A= (n.-17A=)
c.4160A= (p.Tyr1387=)
11g.78708486A=CA1984826694TENM4c.4084T= (p.Tyr1362=)
c.4132T= (p.Tyr1378=)
c.4111T= (p.Tyr1371=)
c.4057T= (p.Tyr1353=)
c.4033T= (p.Tyr1345=)
c.3928T= (p.Tyr1310=)
c.2971T= (p.Tyr991=)
c.1585T= (p.Tyr529=)
c.1528T= (p.Tyr510=)
c.-18T= (n.-18T=)
c.4159T= (p.Tyr1387=)
11g.78708486A>CCA382149490TENM4c.4084T>G (p.Tyr1362Asp)
c.4132T>G (p.Tyr1378Asp)
c.4111T>G (p.Tyr1371Asp)
c.4057T>G (p.Tyr1353Asp)
c.4033T>G (p.Tyr1345Asp)
c.3928T>G (p.Tyr1310Asp)
c.2971T>G (p.Tyr991Asp)
c.1585T>G (p.Tyr529Asp)
c.1528T>G (p.Tyr510Asp)
c.-18T>G (n.-18T>G)
c.4159T>G (p.Tyr1387Asp)
11g.78708486A>GCA382149492TENM4c.4084T>C (p.Tyr1362His)
c.4132T>C (p.Tyr1378His)
c.4111T>C (p.Tyr1371His)
c.4057T>C (p.Tyr1353His)
c.4033T>C (p.Tyr1345His)
c.3928T>C (p.Tyr1310His)
c.2971T>C (p.Tyr991His)
c.1585T>C (p.Tyr529His)
c.1528T>C (p.Tyr510His)
c.-18T>C (n.-18T>C)
c.4159T>C (p.Tyr1387His)
11g.78708486A>TCA382149494TENM4c.4084T>A (p.Tyr1362Asn)
c.4132T>A (p.Tyr1378Asn)
c.4111T>A (p.Tyr1371Asn)
c.4057T>A (p.Tyr1353Asn)
c.4033T>A (p.Tyr1345Asn)
c.3928T>A (p.Tyr1310Asn)
c.2971T>A (p.Tyr991Asn)
c.1585T>A (p.Tyr529Asn)
c.1528T>A (p.Tyr510Asn)
c.-18T>A (n.-18T>A)
c.4159T>A (p.Tyr1387Asn)
 dbSNP gnomAD v4
11g.78708487G>ACA224954041TENM4c.4083C>T (p.Ile1361=)
c.4131C>T (p.Ile1377=)
c.4110C>T (p.Ile1370=)
c.4056C>T (p.Ile1352=)
c.4032C>T (p.Ile1344=)
c.3927C>T (p.Ile1309=)
c.2970C>T (p.Ile990=)
c.1584C>T (p.Ile528=)
c.1527C>T (p.Ile509=)
c.-19C>T (n.-19C>T)
c.4158C>T (p.Ile1386=)
 dbSNP gnomAD v4
11g.78708487G>CCA382149496TENM4c.4083C>G (p.Ile1361Met)
c.4131C>G (p.Ile1377Met)
c.4110C>G (p.Ile1370Met)
c.4056C>G (p.Ile1352Met)
c.4032C>G (p.Ile1344Met)
c.3927C>G (p.Ile1309Met)
c.2970C>G (p.Ile990Met)
c.1584C>G (p.Ile528Met)
c.1527C>G (p.Ile509Met)
c.-19C>G (n.-19C>G)
c.4158C>G (p.Ile1386Met)
11g.78708487G=CA1984826698TENM4c.4083C= (p.Ile1361=)
c.4131C= (p.Ile1377=)
c.4110C= (p.Ile1370=)
c.4056C= (p.Ile1352=)
c.4032C= (p.Ile1344=)
c.3927C= (p.Ile1309=)
c.2970C= (p.Ile990=)
c.1584C= (p.Ile528=)
c.1527C= (p.Ile509=)
c.-19C= (n.-19C=)
c.4158C= (p.Ile1386=)
11g.78708487G>TCA476007526TENM4c.4083C>A (p.Ile1361=)
c.4131C>A (p.Ile1377=)
c.4110C>A (p.Ile1370=)
c.4056C>A (p.Ile1352=)
c.4032C>A (p.Ile1344=)
c.3927C>A (p.Ile1309=)
c.2970C>A (p.Ile990=)
c.1584C>A (p.Ile528=)
c.1527C>A (p.Ile509=)
c.-19C>A (n.-19C>A)
c.4158C>A (p.Ile1386=)
11g.78708488A>CCA382149500TENM4c.4082T>G (p.Ile1361Ser)
c.4130T>G (p.Ile1377Ser)
c.4109T>G (p.Ile1370Ser)
c.4055T>G (p.Ile1352Ser)
c.4031T>G (p.Ile1344Ser)
c.3926T>G (p.Ile1309Ser)
c.2969T>G (p.Ile990Ser)
c.1583T>G (p.Ile528Ser)
c.1526T>G (p.Ile509Ser)
c.-20T>G (n.-20T>G)
c.4157T>G (p.Ile1386Ser)
11g.78708488A>GCA382149502TENM4c.4082T>C (p.Ile1361Thr)
c.4130T>C (p.Ile1377Thr)
c.4109T>C (p.Ile1370Thr)
c.4055T>C (p.Ile1352Thr)
c.4031T>C (p.Ile1344Thr)
c.3926T>C (p.Ile1309Thr)
c.2969T>C (p.Ile990Thr)
c.1583T>C (p.Ile528Thr)
c.1526T>C (p.Ile509Thr)
c.-20T>C (n.-20T>C)
c.4157T>C (p.Ile1386Thr)
11g.78708488A>TCA382149504TENM4c.4082T>A (p.Ile1361Asn)
c.4130T>A (p.Ile1377Asn)
c.4109T>A (p.Ile1370Asn)
c.4055T>A (p.Ile1352Asn)
c.4031T>A (p.Ile1344Asn)
c.3926T>A (p.Ile1309Asn)
c.2969T>A (p.Ile990Asn)
c.1583T>A (p.Ile528Asn)
c.1526T>A (p.Ile509Asn)
c.-20T>A (n.-20T>A)
c.4157T>A (p.Ile1386Asn)
11g.78708489T>ACA382149508TENM4c.4081A>T (p.Ile1361Phe)
c.4129A>T (p.Ile1377Phe)
c.4108A>T (p.Ile1370Phe)
c.4054A>T (p.Ile1352Phe)
c.4030A>T (p.Ile1344Phe)
c.3925A>T (p.Ile1309Phe)
c.2968A>T (p.Ile990Phe)
c.1582A>T (p.Ile528Phe)
c.1525A>T (p.Ile509Phe)
c.-21A>T (n.-21A>T)
c.4156A>T (p.Ile1386Phe)
11g.78708489T>CCA6206880TENM4c.4081A>G (p.Ile1361Val)
c.4129A>G (p.Ile1377Val)
c.4108A>G (p.Ile1370Val)
c.4054A>G (p.Ile1352Val)
c.4030A>G (p.Ile1344Val)
c.3925A>G (p.Ile1309Val)
c.2968A>G (p.Ile990Val)
c.1582A>G (p.Ile528Val)
c.1525A>G (p.Ile509Val)
c.-21A>G (n.-21A>G)
c.4156A>G (p.Ile1386Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.78708489T>GCA382149510TENM4c.4081A>C (p.Ile1361Leu)
c.4129A>C (p.Ile1377Leu)
c.4108A>C (p.Ile1370Leu)
c.4054A>C (p.Ile1352Leu)
c.4030A>C (p.Ile1344Leu)
c.3925A>C (p.Ile1309Leu)
c.2968A>C (p.Ile990Leu)
c.1582A>C (p.Ile528Leu)
c.1525A>C (p.Ile509Leu)
c.-21A>C (n.-21A>C)
c.4156A>C (p.Ile1386Leu)
11g.78708489T=CA1984826702TENM4c.4081A= (p.Ile1361=)
c.4129A= (p.Ile1377=)
c.4108A= (p.Ile1370=)
c.4054A= (p.Ile1352=)
c.4030A= (p.Ile1344=)
c.3925A= (p.Ile1309=)
c.2968A= (p.Ile990=)
c.1582A= (p.Ile528=)
c.1525A= (p.Ile509=)
c.-21A= (n.-21A=)
c.4156A= (p.Ile1386=)
11g.78708490C>ACA476007529TENM4c.4080G>T (p.Leu1360=)
c.4128G>T (p.Leu1376=)
c.4107G>T (p.Leu1369=)
c.4053G>T (p.Leu1351=)
c.4029G>T (p.Leu1343=)
c.3924G>T (p.Leu1308=)
c.2967G>T (p.Leu989=)
c.1581G>T (p.Leu527=)
c.1524G>T (p.Leu508=)
c.-22G>T (n.-22G>T)
c.4155G>T (p.Leu1385=)
11g.78708490C>GCA476007528TENM4c.4080G>C (p.Leu1360=)
c.4128G>C (p.Leu1376=)
c.4107G>C (p.Leu1369=)
c.4053G>C (p.Leu1351=)
c.4029G>C (p.Leu1343=)
c.3924G>C (p.Leu1308=)
c.2967G>C (p.Leu989=)
c.1581G>C (p.Leu527=)
c.1524G>C (p.Leu508=)
c.-22G>C (n.-22G>C)
c.4155G>C (p.Leu1385=)
 gnomAD v4
11g.78708490C>TCA476007527TENM4c.4080G>A (p.Leu1360=)
c.4128G>A (p.Leu1376=)
c.4107G>A (p.Leu1369=)
c.4053G>A (p.Leu1351=)
c.4029G>A (p.Leu1343=)
c.3924G>A (p.Leu1308=)
c.2967G>A (p.Leu989=)
c.1581G>A (p.Leu527=)
c.1524G>A (p.Leu508=)
c.-22G>A (n.-22G>A)
c.4155G>A (p.Leu1385=)
 COSMIC COSMIC
11g.78708491A>CCA382149515TENM4c.4079T>G (p.Leu1360Arg)
c.4127T>G (p.Leu1376Arg)
c.4106T>G (p.Leu1369Arg)
c.4052T>G (p.Leu1351Arg)
c.4028T>G (p.Leu1343Arg)
c.3923T>G (p.Leu1308Arg)
c.2966T>G (p.Leu989Arg)
c.1580T>G (p.Leu527Arg)
c.1523T>G (p.Leu508Arg)
c.-23T>G (n.-23T>G)
c.4154T>G (p.Leu1385Arg)
11g.78708491A>GCA382149518TENM4c.4079T>C (p.Leu1360Pro)
c.4127T>C (p.Leu1376Pro)
c.4106T>C (p.Leu1369Pro)
c.4052T>C (p.Leu1351Pro)
c.4028T>C (p.Leu1343Pro)
c.3923T>C (p.Leu1308Pro)
c.2966T>C (p.Leu989Pro)
c.1580T>C (p.Leu527Pro)
c.1523T>C (p.Leu508Pro)
c.-23T>C (n.-23T>C)
c.4154T>C (p.Leu1385Pro)
11g.78708491A>TCA382149513TENM4c.4079T>A (p.Leu1360Gln)
c.4127T>A (p.Leu1376Gln)
c.4106T>A (p.Leu1369Gln)
c.4052T>A (p.Leu1351Gln)
c.4028T>A (p.Leu1343Gln)
c.3923T>A (p.Leu1308Gln)
c.2966T>A (p.Leu989Gln)
c.1580T>A (p.Leu527Gln)
c.1523T>A (p.Leu508Gln)
c.-23T>A (n.-23T>A)
c.4154T>A (p.Leu1385Gln)
11g.78708492G>ACA476007530TENM4c.4078C>T (p.Leu1360=)
c.4126C>T (p.Leu1376=)
c.4105C>T (p.Leu1369=)
c.4051C>T (p.Leu1351=)
c.4027C>T (p.Leu1343=)
c.3922C>T (p.Leu1308=)
c.2965C>T (p.Leu989=)
c.1579C>T (p.Leu527=)
c.1522C>T (p.Leu508=)
c.-24C>T (n.-24C>T)
c.4153C>T (p.Leu1385=)
11g.78708492G>CCA382149521TENM4c.4078C>G (p.Leu1360Val)
c.4126C>G (p.Leu1376Val)
c.4105C>G (p.Leu1369Val)
c.4051C>G (p.Leu1351Val)
c.4027C>G (p.Leu1343Val)
c.3922C>G (p.Leu1308Val)
c.2965C>G (p.Leu989Val)
c.1579C>G (p.Leu527Val)
c.1522C>G (p.Leu508Val)
c.-24C>G (n.-24C>G)
c.4153C>G (p.Leu1385Val)
11g.78708492G>TCA382149523TENM4c.4078C>A (p.Leu1360Met)
c.4126C>A (p.Leu1376Met)
c.4105C>A (p.Leu1369Met)
c.4051C>A (p.Leu1351Met)
c.4027C>A (p.Leu1343Met)
c.3922C>A (p.Leu1308Met)
c.2965C>A (p.Leu989Met)
c.1579C>A (p.Leu527Met)
c.1522C>A (p.Leu508Met)
c.-24C>A (n.-24C>A)
c.4153C>A (p.Leu1385Met)
11g.78708493C>ACA476007531TENM4c.4077G>T (p.Gly1359=)
c.4125G>T (p.Gly1375=)
c.4104G>T (p.Gly1368=)
c.4050G>T (p.Gly1350=)
c.4026G>T (p.Gly1342=)
c.3921G>T (p.Gly1307=)
c.2964G>T (p.Gly988=)
c.1578G>T (p.Gly526=)
c.1521G>T (p.Gly507=)
c.-25G>T (n.-25G>T)
c.4152G>T (p.Gly1384=)
11g.78708493C>GCA476007533TENM4c.4077G>C (p.Gly1359=)
c.4125G>C (p.Gly1375=)
c.4104G>C (p.Gly1368=)
c.4050G>C (p.Gly1350=)
c.4026G>C (p.Gly1342=)
c.3921G>C (p.Gly1307=)
c.2964G>C (p.Gly988=)
c.1578G>C (p.Gly526=)
c.1521G>C (p.Gly507=)
c.-25G>C (n.-25G>C)
c.4152G>C (p.Gly1384=)
11g.78708493C>TCA476007532TENM4c.4077G>A (p.Gly1359=)
c.4125G>A (p.Gly1375=)
c.4104G>A (p.Gly1368=)
c.4050G>A (p.Gly1350=)
c.4026G>A (p.Gly1342=)
c.3921G>A (p.Gly1307=)
c.2964G>A (p.Gly988=)
c.1578G>A (p.Gly526=)
c.1521G>A (p.Gly507=)
c.-25G>A (n.-25G>A)
c.4152G>A (p.Gly1384=)
11g.78708494C>ACA382149526TENM4c.4076G>T (p.Gly1359Val)
c.4124G>T (p.Gly1375Val)
c.4103G>T (p.Gly1368Val)
c.4049G>T (p.Gly1350Val)
c.4025G>T (p.Gly1342Val)
c.3920G>T (p.Gly1307Val)
c.2963G>T (p.Gly988Val)
c.1577G>T (p.Gly526Val)
c.1520G>T (p.Gly507Val)
c.-26G>T (n.-26G>T)
c.4151G>T (p.Gly1384Val)
11g.78708494C>GCA382149529TENM4c.4076G>C (p.Gly1359Ala)
c.4124G>C (p.Gly1375Ala)
c.4103G>C (p.Gly1368Ala)
c.4049G>C (p.Gly1350Ala)
c.4025G>C (p.Gly1342Ala)
c.3920G>C (p.Gly1307Ala)
c.2963G>C (p.Gly988Ala)
c.1577G>C (p.Gly526Ala)
c.1520G>C (p.Gly507Ala)
c.-26G>C (n.-26G>C)
c.4151G>C (p.Gly1384Ala)
11g.78708494C>TCA382149531TENM4c.4076G>A (p.Gly1359Glu)
c.4124G>A (p.Gly1375Glu)
c.4103G>A (p.Gly1368Glu)
c.4049G>A (p.Gly1350Glu)
c.4025G>A (p.Gly1342Glu)
c.3920G>A (p.Gly1307Glu)
c.2963G>A (p.Gly988Glu)
c.1577G>A (p.Gly526Glu)
c.1520G>A (p.Gly507Glu)
c.-26G>A (n.-26G>A)
c.4151G>A (p.Gly1384Glu)
11g.78708495C>ACA382149538TENM4c.4075G>T (p.Gly1359Trp)
c.4123G>T (p.Gly1375Trp)
c.4102G>T (p.Gly1368Trp)
c.4048G>T (p.Gly1350Trp)
c.4024G>T (p.Gly1342Trp)
c.3919G>T (p.Gly1307Trp)
c.2962G>T (p.Gly988Trp)
c.1576G>T (p.Gly526Trp)
c.1519G>T (p.Gly507Trp)
c.-27G>T (n.-27G>T)
c.4150G>T (p.Gly1384Trp)
11g.78708495C>GCA382149534TENM4c.4075G>C (p.Gly1359Arg)
c.4123G>C (p.Gly1375Arg)
c.4102G>C (p.Gly1368Arg)
c.4048G>C (p.Gly1350Arg)
c.4024G>C (p.Gly1342Arg)
c.3919G>C (p.Gly1307Arg)
c.2962G>C (p.Gly988Arg)
c.1576G>C (p.Gly526Arg)
c.1519G>C (p.Gly507Arg)
c.-27G>C (n.-27G>C)
c.4150G>C (p.Gly1384Arg)
11g.78708495C>TCA382149536TENM4c.4075G>A (p.Gly1359Arg)
c.4123G>A (p.Gly1375Arg)
c.4102G>A (p.Gly1368Arg)
c.4048G>A (p.Gly1350Arg)
c.4024G>A (p.Gly1342Arg)
c.3919G>A (p.Gly1307Arg)
c.2962G>A (p.Gly988Arg)
c.1576G>A (p.Gly526Arg)
c.1519G>A (p.Gly507Arg)
c.-27G>A (n.-27G>A)
c.4150G>A (p.Gly1384Arg)
11g.78708496A>CCA382149541TENM4c.4074T>G (p.Phe1358Leu)
c.4122T>G (p.Phe1374Leu)
c.4101T>G (p.Phe1367Leu)
c.4047T>G (p.Phe1349Leu)
c.4023T>G (p.Phe1341Leu)
c.3918T>G (p.Phe1306Leu)
c.2961T>G (p.Phe987Leu)
c.1575T>G (p.Phe525Leu)
c.1518T>G (p.Phe506Leu)
c.-28T>G (n.-28T>G)
c.4149T>G (p.Phe1383Leu)
11g.78708496A>GCA476007534TENM4c.4074T>C (p.Phe1358=)
c.4122T>C (p.Phe1374=)
c.4101T>C (p.Phe1367=)
c.4047T>C (p.Phe1349=)
c.4023T>C (p.Phe1341=)
c.3918T>C (p.Phe1306=)
c.2961T>C (p.Phe987=)
c.1575T>C (p.Phe525=)
c.1518T>C (p.Phe506=)
c.-28T>C (n.-28T>C)
c.4149T>C (p.Phe1383=)
11g.78708496A>TCA382149543TENM4c.4074T>A (p.Phe1358Leu)
c.4122T>A (p.Phe1374Leu)
c.4101T>A (p.Phe1367Leu)
c.4047T>A (p.Phe1349Leu)
c.4023T>A (p.Phe1341Leu)
c.3918T>A (p.Phe1306Leu)
c.2961T>A (p.Phe987Leu)
c.1575T>A (p.Phe525Leu)
c.1518T>A (p.Phe506Leu)
c.-28T>A (n.-28T>A)
c.4149T>A (p.Phe1383Leu)
11g.78708497A=CA1984826708TENM4c.4073T= (p.Phe1358=)
c.4121T= (p.Phe1374=)
c.4100T= (p.Phe1367=)
c.4046T= (p.Phe1349=)
c.4022T= (p.Phe1341=)
c.3917T= (p.Phe1306=)
c.2960T= (p.Phe987=)
c.1574T= (p.Phe525=)
c.1517T= (p.Phe506=)
c.-29T= (n.-29T=)
c.4148T= (p.Phe1383=)
11g.78708497A>CCA382149546TENM4c.4073T>G (p.Phe1358Cys)
c.4121T>G (p.Phe1374Cys)
c.4100T>G (p.Phe1367Cys)
c.4046T>G (p.Phe1349Cys)
c.4022T>G (p.Phe1341Cys)
c.3917T>G (p.Phe1306Cys)
c.2960T>G (p.Phe987Cys)
c.1574T>G (p.Phe525Cys)
c.1517T>G (p.Phe506Cys)
c.-29T>G (n.-29T>G)
c.4148T>G (p.Phe1383Cys)
11g.78708497A>GCA382149548TENM4c.4073T>C (p.Phe1358Ser)
c.4121T>C (p.Phe1374Ser)
c.4100T>C (p.Phe1367Ser)
c.4046T>C (p.Phe1349Ser)
c.4022T>C (p.Phe1341Ser)
c.3917T>C (p.Phe1306Ser)
c.2960T>C (p.Phe987Ser)
c.1574T>C (p.Phe525Ser)
c.1517T>C (p.Phe506Ser)
c.-29T>C (n.-29T>C)
c.4148T>C (p.Phe1383Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.78708497A>TCA382149550TENM4c.4073T>A (p.Phe1358Tyr)
c.4121T>A (p.Phe1374Tyr)
c.4100T>A (p.Phe1367Tyr)
c.4046T>A (p.Phe1349Tyr)
c.4022T>A (p.Phe1341Tyr)
c.3917T>A (p.Phe1306Tyr)
c.2960T>A (p.Phe987Tyr)
c.1574T>A (p.Phe525Tyr)
c.1517T>A (p.Phe506Tyr)
c.-29T>A (n.-29T>A)
c.4148T>A (p.Phe1383Tyr)
11g.78708498A>CCA382149556TENM4c.4072T>G (p.Phe1358Val)
c.4120T>G (p.Phe1374Val)
c.4099T>G (p.Phe1367Val)
c.4045T>G (p.Phe1349Val)
c.4021T>G (p.Phe1341Val)
c.3916T>G (p.Phe1306Val)
c.2959T>G (p.Phe987Val)
c.1573T>G (p.Phe525Val)
c.1516T>G (p.Phe506Val)
c.-30T>G (n.-30T>G)
c.4147T>G (p.Phe1383Val)
11g.78708498A>GCA382149554TENM4c.4072T>C (p.Phe1358Leu)
c.4120T>C (p.Phe1374Leu)
c.4099T>C (p.Phe1367Leu)
c.4045T>C (p.Phe1349Leu)
c.4021T>C (p.Phe1341Leu)
c.3916T>C (p.Phe1306Leu)
c.2959T>C (p.Phe987Leu)
c.1573T>C (p.Phe525Leu)
c.1516T>C (p.Phe506Leu)
c.-30T>C (n.-30T>C)
c.4147T>C (p.Phe1383Leu)
11g.78708498A>TCA382149552TENM4c.4072T>A (p.Phe1358Ile)
c.4120T>A (p.Phe1374Ile)
c.4099T>A (p.Phe1367Ile)
c.4045T>A (p.Phe1349Ile)
c.4021T>A (p.Phe1341Ile)
c.3916T>A (p.Phe1306Ile)
c.2959T>A (p.Phe987Ile)
c.1573T>A (p.Phe525Ile)
c.1516T>A (p.Phe506Ile)
c.-30T>A (n.-30T>A)
c.4147T>A (p.Phe1383Ile)
11g.78708499C>ACA382149559TENM4c.4071G>T (p.Lys1357Asn)
c.4119G>T (p.Lys1373Asn)
c.4098G>T (p.Lys1366Asn)
c.4044G>T (p.Lys1348Asn)
c.4020G>T (p.Lys1340Asn)
c.3915G>T (p.Lys1305Asn)
c.2958G>T (p.Lys986Asn)
c.1572G>T (p.Lys524Asn)
c.1515G>T (p.Lys505Asn)
c.-31G>T (n.-31G>T)
c.4146G>T (p.Lys1382Asn)
11g.78708499C>GCA382149560TENM4c.4071G>C (p.Lys1357Asn)
c.4119G>C (p.Lys1373Asn)
c.4098G>C (p.Lys1366Asn)
c.4044G>C (p.Lys1348Asn)
c.4020G>C (p.Lys1340Asn)
c.3915G>C (p.Lys1305Asn)
c.2958G>C (p.Lys986Asn)
c.1572G>C (p.Lys524Asn)
c.1515G>C (p.Lys505Asn)
c.-31G>C (n.-31G>C)
c.4146G>C (p.Lys1382Asn)
11g.78708499C>TCA476007535TENM4c.4071G>A (p.Lys1357=)
c.4119G>A (p.Lys1373=)
c.4098G>A (p.Lys1366=)
c.4044G>A (p.Lys1348=)
c.4020G>A (p.Lys1340=)
c.3915G>A (p.Lys1305=)
c.2958G>A (p.Lys986=)
c.1572G>A (p.Lys524=)
c.1515G>A (p.Lys505=)
c.-31G>A (n.-31G>A)
c.4146G>A (p.Lys1382=)
 gnomAD v4
11g.78708500T>ACA382149563TENM4c.4070A>T (p.Lys1357Met)
c.4118A>T (p.Lys1373Met)
c.4097A>T (p.Lys1366Met)
c.4043A>T (p.Lys1348Met)
c.4019A>T (p.Lys1340Met)
c.3914A>T (p.Lys1305Met)
c.2957A>T (p.Lys986Met)
c.1571A>T (p.Lys524Met)
c.1514A>T (p.Lys505Met)
c.-32A>T (n.-32A>T)
c.4145A>T (p.Lys1382Met)
11g.78708500T>CCA382149565TENM4c.4070A>G (p.Lys1357Arg)
c.4118A>G (p.Lys1373Arg)
c.4097A>G (p.Lys1366Arg)
c.4043A>G (p.Lys1348Arg)
c.4019A>G (p.Lys1340Arg)
c.3914A>G (p.Lys1305Arg)
c.2957A>G (p.Lys986Arg)
c.1571A>G (p.Lys524Arg)
c.1514A>G (p.Lys505Arg)
c.-32A>G (n.-32A>G)
c.4145A>G (p.Lys1382Arg)
 gnomAD v4
11g.78708500T>GCA382149567TENM4c.4070A>C (p.Lys1357Thr)
c.4118A>C (p.Lys1373Thr)
c.4097A>C (p.Lys1366Thr)
c.4043A>C (p.Lys1348Thr)
c.4019A>C (p.Lys1340Thr)
c.3914A>C (p.Lys1305Thr)
c.2957A>C (p.Lys986Thr)
c.1571A>C (p.Lys524Thr)
c.1514A>C (p.Lys505Thr)
c.-32A>C (n.-32A>C)
c.4145A>C (p.Lys1382Thr)
11g.78708501T>ACA382149571TENM4c.4069A>T (p.Lys1357Ter)
c.4117A>T (p.Lys1373Ter)
c.4096A>T (p.Lys1366Ter)
c.4042A>T (p.Lys1348Ter)
c.4018A>T (p.Lys1340Ter)
c.3913A>T (p.Lys1305Ter)
c.2956A>T (p.Lys986Ter)
c.1570A>T (p.Lys524Ter)
c.1513A>T (p.Lys505Ter)
c.-33A>T (n.-33A>T)
c.4144A>T (p.Lys1382Ter)
11g.78708501T>CCA382149572TENM4c.4069A>G (p.Lys1357Glu)
c.4117A>G (p.Lys1373Glu)
c.4096A>G (p.Lys1366Glu)
c.4042A>G (p.Lys1348Glu)
c.4018A>G (p.Lys1340Glu)
c.3913A>G (p.Lys1305Glu)
c.2956A>G (p.Lys986Glu)
c.1570A>G (p.Lys524Glu)
c.1513A>G (p.Lys505Glu)
c.-33A>G (n.-33A>G)
c.4144A>G (p.Lys1382Glu)
11g.78708501T>GCA382149574TENM4c.4069A>C (p.Lys1357Gln)
c.4117A>C (p.Lys1373Gln)
c.4096A>C (p.Lys1366Gln)
c.4042A>C (p.Lys1348Gln)
c.4018A>C (p.Lys1340Gln)
c.3913A>C (p.Lys1305Gln)
c.2956A>C (p.Lys986Gln)
c.1570A>C (p.Lys524Gln)
c.1513A>C (p.Lys505Gln)
c.-33A>C (n.-33A>C)
c.4144A>C (p.Lys1382Gln)
11g.78708502G>ACA476007536TENM4c.4068C>T (p.Asp1356=)
c.4116C>T (p.Asp1372=)
c.4095C>T (p.Asp1365=)
c.4041C>T (p.Asp1347=)
c.4017C>T (p.Asp1339=)
c.3912C>T (p.Asp1304=)
c.2955C>T (p.Asp985=)
c.1569C>T (p.Asp523=)
c.1512C>T (p.Asp504=)
c.-34C>T (n.-34C>T)
c.4143C>T (p.Asp1381=)
11g.78708502G>CCA382149578TENM4c.4068C>G (p.Asp1356Glu)
c.4116C>G (p.Asp1372Glu)
c.4095C>G (p.Asp1365Glu)
c.4041C>G (p.Asp1347Glu)
c.4017C>G (p.Asp1339Glu)
c.3912C>G (p.Asp1304Glu)
c.2955C>G (p.Asp985Glu)
c.1569C>G (p.Asp523Glu)
c.1512C>G (p.Asp504Glu)
c.-34C>G (n.-34C>G)
c.4143C>G (p.Asp1381Glu)
11g.78708502G>TCA382149580TENM4c.4068C>A (p.Asp1356Glu)
c.4116C>A (p.Asp1372Glu)
c.4095C>A (p.Asp1365Glu)
c.4041C>A (p.Asp1347Glu)
c.4017C>A (p.Asp1339Glu)
c.3912C>A (p.Asp1304Glu)
c.2955C>A (p.Asp985Glu)
c.1569C>A (p.Asp523Glu)
c.1512C>A (p.Asp504Glu)
c.-34C>A (n.-34C>A)
c.4143C>A (p.Asp1381Glu)
11g.78708503T>ACA382149584TENM4c.4067A>T (p.Asp1356Val)
c.4115A>T (p.Asp1372Val)
c.4094A>T (p.Asp1365Val)
c.4040A>T (p.Asp1347Val)
c.4016A>T (p.Asp1339Val)
c.3911A>T (p.Asp1304Val)
c.2954A>T (p.Asp985Val)
c.1568A>T (p.Asp523Val)
c.1511A>T (p.Asp504Val)
c.-35A>T (n.-35A>T)
c.4142A>T (p.Asp1381Val)
11g.78708503T>CCA382149588TENM4c.4067A>G (p.Asp1356Gly)
c.4115A>G (p.Asp1372Gly)
c.4094A>G (p.Asp1365Gly)
c.4040A>G (p.Asp1347Gly)
c.4016A>G (p.Asp1339Gly)
c.3911A>G (p.Asp1304Gly)
c.2954A>G (p.Asp985Gly)
c.1568A>G (p.Asp523Gly)
c.1511A>G (p.Asp504Gly)
c.-35A>G (n.-35A>G)
c.4142A>G (p.Asp1381Gly)
11g.78708503T>GCA382149586TENM4c.4067A>C (p.Asp1356Ala)
c.4115A>C (p.Asp1372Ala)
c.4094A>C (p.Asp1365Ala)
c.4040A>C (p.Asp1347Ala)
c.4016A>C (p.Asp1339Ala)
c.3911A>C (p.Asp1304Ala)
c.2954A>C (p.Asp985Ala)
c.1568A>C (p.Asp523Ala)
c.1511A>C (p.Asp504Ala)
c.-35A>C (n.-35A>C)
c.4142A>C (p.Asp1381Ala)
11g.78708504C>ACA382149591TENM4c.4066G>T (p.Asp1356Tyr)
c.4114G>T (p.Asp1372Tyr)
c.4093G>T (p.Asp1365Tyr)
c.4039G>T (p.Asp1347Tyr)
c.4015G>T (p.Asp1339Tyr)
c.3910G>T (p.Asp1304Tyr)
c.2953G>T (p.Asp985Tyr)
c.1567G>T (p.Asp523Tyr)
c.1510G>T (p.Asp504Tyr)
c.-36G>T (n.-36G>T)
c.4141G>T (p.Asp1381Tyr)
11g.78708504C>GCA382149594TENM4c.4066G>C (p.Asp1356His)
c.4114G>C (p.Asp1372His)
c.4093G>C (p.Asp1365His)
c.4039G>C (p.Asp1347His)
c.4015G>C (p.Asp1339His)
c.3910G>C (p.Asp1304His)
c.2953G>C (p.Asp985His)
c.1567G>C (p.Asp523His)
c.1510G>C (p.Asp504His)
c.-36G>C (n.-36G>C)
c.4141G>C (p.Asp1381His)
11g.78708504C>TCA382149596TENM4c.4066G>A (p.Asp1356Asn)
c.4114G>A (p.Asp1372Asn)
c.4093G>A (p.Asp1365Asn)
c.4039G>A (p.Asp1347Asn)
c.4015G>A (p.Asp1339Asn)
c.3910G>A (p.Asp1304Asn)
c.2953G>A (p.Asp985Asn)
c.1567G>A (p.Asp523Asn)
c.1510G>A (p.Asp504Asn)
c.-36G>A (n.-36G>A)
c.4141G>A (p.Asp1381Asn)
11g.78708505C>ACA476007537TENM4c.4065G>T (p.Val1355=)
c.4113G>T (p.Val1371=)
c.4092G>T (p.Val1364=)
c.4038G>T (p.Val1346=)
c.4014G>T (p.Val1338=)
c.3909G>T (p.Val1303=)
c.2952G>T (p.Val984=)
c.1566G>T (p.Val522=)
c.1509G>T (p.Val503=)
c.-37G>T (n.-37G>T)
c.4140G>T (p.Val1380=)
11g.78708505C=CA1984826710TENM4c.4065G= (p.Val1355=)
c.4113G= (p.Val1371=)
c.4092G= (p.Val1364=)
c.4038G= (p.Val1346=)
c.4014G= (p.Val1338=)
c.3909G= (p.Val1303=)
c.2952G= (p.Val984=)
c.1566G= (p.Val522=)
c.1509G= (p.Val503=)
c.-37G= (n.-37G=)
c.4140G= (p.Val1380=)
11g.78708505C>GCA476007538TENM4c.4065G>C (p.Val1355=)
c.4113G>C (p.Val1371=)
c.4092G>C (p.Val1364=)
c.4038G>C (p.Val1346=)
c.4014G>C (p.Val1338=)
c.3909G>C (p.Val1303=)
c.2952G>C (p.Val984=)
c.1566G>C (p.Val522=)
c.1509G>C (p.Val503=)
c.-37G>C (n.-37G>C)
c.4140G>C (p.Val1380=)
11g.78708505C>TCA6206881TENM4c.4065G>A (p.Val1355=)
c.4113G>A (p.Val1371=)
c.4092G>A (p.Val1364=)
c.4038G>A (p.Val1346=)
c.4014G>A (p.Val1338=)
c.3909G>A (p.Val1303=)
c.2952G>A (p.Val984=)
c.1566G>A (p.Val522=)
c.1509G>A (p.Val503=)
c.-37G>A (n.-37G>A)
c.4140G>A (p.Val1380=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.78708506A>CCA382149602TENM4c.4064T>G (p.Val1355Gly)
c.4112T>G (p.Val1371Gly)
c.4091T>G (p.Val1364Gly)
c.4037T>G (p.Val1346Gly)
c.4013T>G (p.Val1338Gly)
c.3908T>G (p.Val1303Gly)
c.2951T>G (p.Val984Gly)
c.1565T>G (p.Val522Gly)
c.1508T>G (p.Val503Gly)
c.-38T>G (n.-38T>G)
c.4139T>G (p.Val1380Gly)
11g.78708506A>GCA382149606TENM4c.4064T>C (p.Val1355Ala)
c.4112T>C (p.Val1371Ala)
c.4091T>C (p.Val1364Ala)
c.4037T>C (p.Val1346Ala)
c.4013T>C (p.Val1338Ala)
c.3908T>C (p.Val1303Ala)
c.2951T>C (p.Val984Ala)
c.1565T>C (p.Val522Ala)
c.1508T>C (p.Val503Ala)
c.-38T>C (n.-38T>C)
c.4139T>C (p.Val1380Ala)
11g.78708506A>TCA382149604TENM4c.4064T>A (p.Val1355Glu)
c.4112T>A (p.Val1371Glu)
c.4091T>A (p.Val1364Glu)
c.4037T>A (p.Val1346Glu)
c.4013T>A (p.Val1338Glu)
c.3908T>A (p.Val1303Glu)
c.2951T>A (p.Val984Glu)
c.1565T>A (p.Val522Glu)
c.1508T>A (p.Val503Glu)
c.-38T>A (n.-38T>A)
c.4139T>A (p.Val1380Glu)
11g.78708507C>ACA382149610TENM4c.4063G>T (p.Val1355Leu)
c.4111G>T (p.Val1371Leu)
c.4090G>T (p.Val1364Leu)
c.4036G>T (p.Val1346Leu)
c.4012G>T (p.Val1338Leu)
c.3907G>T (p.Val1303Leu)
c.2950G>T (p.Val984Leu)
c.1564G>T (p.Val522Leu)
c.1507G>T (p.Val503Leu)
c.-39G>T (n.-39G>T)
c.4138G>T (p.Val1380Leu)
11g.78708507C=CA1984826714TENM4c.4063G= (p.Val1355=)
c.4111G= (p.Val1371=)
c.4090G= (p.Val1364=)
c.4036G= (p.Val1346=)
c.4012G= (p.Val1338=)
c.3907G= (p.Val1303=)
c.2950G= (p.Val984=)
c.1564G= (p.Val522=)
c.1507G= (p.Val503=)
c.-39G= (n.-39G=)
c.4138G= (p.Val1380=)
11g.78708507C>GCA382149613TENM4c.4063G>C (p.Val1355Leu)
c.4111G>C (p.Val1371Leu)
c.4090G>C (p.Val1364Leu)
c.4036G>C (p.Val1346Leu)
c.4012G>C (p.Val1338Leu)
c.3907G>C (p.Val1303Leu)
c.2950G>C (p.Val984Leu)
c.1564G>C (p.Val522Leu)
c.1507G>C (p.Val503Leu)
c.-39G>C (n.-39G>C)
c.4138G>C (p.Val1380Leu)
11g.78708507C>TCA382149615TENM4c.4063G>A (p.Val1355Met)
c.4111G>A (p.Val1371Met)
c.4090G>A (p.Val1364Met)
c.4036G>A (p.Val1346Met)
c.4012G>A (p.Val1338Met)
c.3907G>A (p.Val1303Met)
c.2950G>A (p.Val984Met)
c.1564G>A (p.Val522Met)
c.1507G>A (p.Val503Met)
c.-39G>A (n.-39G>A)
c.4138G>A (p.Val1380Met)
 dbSNP gnomAD v3 gnomAD v4
11g.78708508T>ACA476007539TENM4c.4062A>T (p.Thr1354=)
c.4110A>T (p.Thr1370=)
c.4089A>T (p.Thr1363=)
c.4035A>T (p.Thr1345=)
c.4011A>T (p.Thr1337=)
c.3906A>T (p.Thr1302=)
c.2949A>T (p.Thr983=)
c.1563A>T (p.Thr521=)
c.1506A>T (p.Thr502=)
c.-40A>T (n.-40A>T)
c.4137A>T (p.Thr1379=)
11g.78708508T>CCA476007540TENM4c.4062A>G (p.Thr1354=)
c.4110A>G (p.Thr1370=)
c.4089A>G (p.Thr1363=)
c.4035A>G (p.Thr1345=)
c.4011A>G (p.Thr1337=)
c.3906A>G (p.Thr1302=)
c.2949A>G (p.Thr983=)
c.1563A>G (p.Thr521=)
c.1506A>G (p.Thr502=)
c.-40A>G (n.-40A>G)
c.4137A>G (p.Thr1379=)
 dbSNP gnomAD v2 gnomAD v4
11g.78708508T>GCA6206882TENM4c.4062A>C (p.Thr1354=)
c.4110A>C (p.Thr1370=)
c.4089A>C (p.Thr1363=)
c.4035A>C (p.Thr1345=)
c.4011A>C (p.Thr1337=)
c.3906A>C (p.Thr1302=)
c.2949A>C (p.Thr983=)
c.1563A>C (p.Thr521=)
c.1506A>C (p.Thr502=)
c.-40A>C (n.-40A>C)
c.4137A>C (p.Thr1379=)
 dbSNP ExAC gnomAD v2
11g.78708508T=CA1984826717TENM4c.4062A= (p.Thr1354=)
c.4110A= (p.Thr1370=)
c.4089A= (p.Thr1363=)
c.4035A= (p.Thr1345=)
c.4011A= (p.Thr1337=)
c.3906A= (p.Thr1302=)
c.2949A= (p.Thr983=)
c.1563A= (p.Thr521=)
c.1506A= (p.Thr502=)
c.-40A= (n.-40A=)
c.4137A= (p.Thr1379=)
11g.78708509G>ACA6206883TENM4c.4061C>T (p.Thr1354Ile)
c.4109C>T (p.Thr1370Ile)
c.4088C>T (p.Thr1363Ile)
c.4034C>T (p.Thr1345Ile)
c.4010C>T (p.Thr1337Ile)
c.3905C>T (p.Thr1302Ile)
c.2948C>T (p.Thr983Ile)
c.1562C>T (p.Thr521Ile)
c.1505C>T (p.Thr502Ile)
c.-41C>T (n.-41C>T)
c.4136C>T (p.Thr1379Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.78708509G>CCA6206884TENM4c.4061C>G (p.Thr1354Arg)
c.4109C>G (p.Thr1370Arg)
c.4088C>G (p.Thr1363Arg)
c.4034C>G (p.Thr1345Arg)
c.4010C>G (p.Thr1337Arg)
c.3905C>G (p.Thr1302Arg)
c.2948C>G (p.Thr983Arg)
c.1562C>G (p.Thr521Arg)
c.1505C>G (p.Thr502Arg)
c.-41C>G (n.-41C>G)
c.4136C>G (p.Thr1379Arg)
 dbSNP ExAC gnomAD v2
11g.78708509G=CA1984826722TENM4c.4061C= (p.Thr1354=)
c.4109C= (p.Thr1370=)
c.4088C= (p.Thr1363=)
c.4034C= (p.Thr1345=)
c.4010C= (p.Thr1337=)
c.3905C= (p.Thr1302=)
c.2948C= (p.Thr983=)
c.1562C= (p.Thr521=)
c.1505C= (p.Thr502=)
c.-41C= (n.-41C=)
c.4136C= (p.Thr1379=)
11g.78708509G>TCA382149622TENM4c.4061C>A (p.Thr1354Lys)
c.4109C>A (p.Thr1370Lys)
c.4088C>A (p.Thr1363Lys)
c.4034C>A (p.Thr1345Lys)
c.4010C>A (p.Thr1337Lys)
c.3905C>A (p.Thr1302Lys)
c.2948C>A (p.Thr983Lys)
c.1562C>A (p.Thr521Lys)
c.1505C>A (p.Thr502Lys)
c.-41C>A (n.-41C>A)
c.4136C>A (p.Thr1379Lys)
11g.78708510T>ACA382149624TENM4c.4060A>T (p.Thr1354Ser)
c.4108A>T (p.Thr1370Ser)
c.4087A>T (p.Thr1363Ser)
c.4033A>T (p.Thr1345Ser)
c.4009A>T (p.Thr1337Ser)
c.3904A>T (p.Thr1302Ser)
c.2947A>T (p.Thr983Ser)
c.1561A>T (p.Thr521Ser)
c.1504A>T (p.Thr502Ser)
c.-42A>T (n.-42A>T)
c.4135A>T (p.Thr1379Ser)
11g.78708510T>CCA382149626TENM4c.4060A>G (p.Thr1354Ala)
c.4108A>G (p.Thr1370Ala)
c.4087A>G (p.Thr1363Ala)
c.4033A>G (p.Thr1345Ala)
c.4009A>G (p.Thr1337Ala)
c.3904A>G (p.Thr1302Ala)
c.2947A>G (p.Thr983Ala)
c.1561A>G (p.Thr521Ala)
c.1504A>G (p.Thr502Ala)
c.-42A>G (n.-42A>G)
c.4135A>G (p.Thr1379Ala)
11g.78708510T>GCA382149628TENM4c.4060A>C (p.Thr1354Pro)
c.4108A>C (p.Thr1370Pro)
c.4087A>C (p.Thr1363Pro)
c.4033A>C (p.Thr1345Pro)
c.4009A>C (p.Thr1337Pro)
c.3904A>C (p.Thr1302Pro)
c.2947A>C (p.Thr983Pro)
c.1561A>C (p.Thr521Pro)
c.1504A>C (p.Thr502Pro)
c.-42A>C (n.-42A>C)
c.4135A>C (p.Thr1379Pro)
11g.78708511A=CA1984826725TENM4c.4059T= (p.Ile1353=)
c.4107T= (p.Ile1369=)
c.4086T= (p.Ile1362=)
c.4032T= (p.Ile1344=)
c.4008T= (p.Ile1336=)
c.3903T= (p.Ile1301=)
c.2946T= (p.Ile982=)
c.1560T= (p.Ile520=)
c.1503T= (p.Ile501=)
c.-43T= (n.-43T=)
c.4134T= (p.Ile1378=)
11g.78708511A>CCA382149630TENM4c.4059T>G (p.Ile1353Met)
c.4107T>G (p.Ile1369Met)
c.4086T>G (p.Ile1362Met)
c.4032T>G (p.Ile1344Met)
c.4008T>G (p.Ile1336Met)
c.3903T>G (p.Ile1301Met)
c.2946T>G (p.Ile982Met)
c.1560T>G (p.Ile520Met)
c.1503T>G (p.Ile501Met)
c.-43T>G (n.-43T>G)
c.4134T>G (p.Ile1378Met)
11g.78708511A>GCA476007541TENM4c.4059T>C (p.Ile1353=)
c.4107T>C (p.Ile1369=)
c.4086T>C (p.Ile1362=)
c.4032T>C (p.Ile1344=)
c.4008T>C (p.Ile1336=)
c.3903T>C (p.Ile1301=)
c.2946T>C (p.Ile982=)
c.1560T>C (p.Ile520=)
c.1503T>C (p.Ile501=)
c.-43T>C (n.-43T>C)
c.4134T>C (p.Ile1378=)
11g.78708511A>TCA6206885TENM4c.4059T>A (p.Ile1353=)
c.4107T>A (p.Ile1369=)
c.4086T>A (p.Ile1362=)
c.4032T>A (p.Ile1344=)
c.4008T>A (p.Ile1336=)
c.3903T>A (p.Ile1301=)
c.2946T>A (p.Ile982=)
c.1560T>A (p.Ile520=)
c.1503T>A (p.Ile501=)
c.-43T>A (n.-43T>A)
c.4134T>A (p.Ile1378=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.78708512A>CCA382149635TENM4c.4058T>G (p.Ile1353Ser)
c.4106T>G (p.Ile1369Ser)
c.4085T>G (p.Ile1362Ser)
c.4031T>G (p.Ile1344Ser)
c.4007T>G (p.Ile1336Ser)
c.3902T>G (p.Ile1301Ser)
c.2945T>G (p.Ile982Ser)
c.1559T>G (p.Ile520Ser)
c.1502T>G (p.Ile501Ser)
c.-44T>G (n.-44T>G)
c.4133T>G (p.Ile1378Ser)
11g.78708512A>GCA382149640TENM4c.4058T>C (p.Ile1353Thr)
c.4106T>C (p.Ile1369Thr)
c.4085T>C (p.Ile1362Thr)
c.4031T>C (p.Ile1344Thr)
c.4007T>C (p.Ile1336Thr)
c.3902T>C (p.Ile1301Thr)
c.2945T>C (p.Ile982Thr)
c.1559T>C (p.Ile520Thr)
c.1502T>C (p.Ile501Thr)
c.-44T>C (n.-44T>C)
c.4133T>C (p.Ile1378Thr)
11g.78708512A>TCA382149637TENM4c.4058T>A (p.Ile1353Asn)
c.4106T>A (p.Ile1369Asn)
c.4085T>A (p.Ile1362Asn)
c.4031T>A (p.Ile1344Asn)
c.4007T>A (p.Ile1336Asn)
c.3902T>A (p.Ile1301Asn)
c.2945T>A (p.Ile982Asn)
c.1559T>A (p.Ile520Asn)
c.1502T>A (p.Ile501Asn)
c.-44T>A (n.-44T>A)
c.4133T>A (p.Ile1378Asn)
11g.78708513T>ACA382149643TENM4c.4057A>T (p.Ile1353Phe)
c.4105A>T (p.Ile1369Phe)
c.4084A>T (p.Ile1362Phe)
c.4030A>T (p.Ile1344Phe)
c.4006A>T (p.Ile1336Phe)
c.3901A>T (p.Ile1301Phe)
c.2944A>T (p.Ile982Phe)
c.1558A>T (p.Ile520Phe)
c.1501A>T (p.Ile501Phe)
c.-45A>T (n.-45A>T)
c.4132A>T (p.Ile1378Phe)
11g.78708513T>CCA382149645TENM4c.4057A>G (p.Ile1353Val)
c.4105A>G (p.Ile1369Val)
c.4084A>G (p.Ile1362Val)
c.4030A>G (p.Ile1344Val)
c.4006A>G (p.Ile1336Val)
c.3901A>G (p.Ile1301Val)
c.2944A>G (p.Ile982Val)
c.1558A>G (p.Ile520Val)
c.1501A>G (p.Ile501Val)
c.-45A>G (n.-45A>G)
c.4132A>G (p.Ile1378Val)
11g.78708513T>GCA382149647TENM4c.4057A>C (p.Ile1353Leu)
c.4105A>C (p.Ile1369Leu)
c.4084A>C (p.Ile1362Leu)
c.4030A>C (p.Ile1344Leu)
c.4006A>C (p.Ile1336Leu)
c.3901A>C (p.Ile1301Leu)
c.2944A>C (p.Ile982Leu)
c.1558A>C (p.Ile520Leu)
c.1501A>C (p.Ile501Leu)
c.-45A>C (n.-45A>C)
c.4132A>C (p.Ile1378Leu)
11g.78708514G>ACA476007542TENM4c.4056C>T (p.Gly1352=)
c.4104C>T (p.Gly1368=)
c.4083C>T (p.Gly1361=)
c.4029C>T (p.Gly1343=)
c.4005C>T (p.Gly1335=)
c.3900C>T (p.Gly1300=)
c.2943C>T (p.Gly981=)
c.1557C>T (p.Gly519=)
c.1500C>T (p.Gly500=)
c.-46C>T (n.-46C>T)
c.4131C>T (p.Gly1377=)
11g.78708514G>CCA476007543TENM4c.4056C>G (p.Gly1352=)
c.4104C>G (p.Gly1368=)
c.4083C>G (p.Gly1361=)
c.4029C>G (p.Gly1343=)
c.4005C>G (p.Gly1335=)
c.3900C>G (p.Gly1300=)
c.2943C>G (p.Gly981=)
c.1557C>G (p.Gly519=)
c.1500C>G (p.Gly500=)
c.-46C>G (n.-46C>G)
c.4131C>G (p.Gly1377=)
11g.78708514G>TCA476007544TENM4c.4056C>A (p.Gly1352=)
c.4104C>A (p.Gly1368=)
c.4083C>A (p.Gly1361=)
c.4029C>A (p.Gly1343=)
c.4005C>A (p.Gly1335=)
c.3900C>A (p.Gly1300=)
c.2943C>A (p.Gly981=)
c.1557C>A (p.Gly519=)
c.1500C>A (p.Gly500=)
c.-46C>A (n.-46C>A)
c.4131C>A (p.Gly1377=)
 COSMIC COSMIC
11g.78708515C>ACA382149649TENM4c.4055G>T (p.Gly1352Val)
c.4103G>T (p.Gly1368Val)
c.4082G>T (p.Gly1361Val)
c.4028G>T (p.Gly1343Val)
c.4004G>T (p.Gly1335Val)
c.3899G>T (p.Gly1300Val)
c.2942G>T (p.Gly981Val)
c.1556G>T (p.Gly519Val)
c.1499G>T (p.Gly500Val)
c.-47G>T (n.-47G>T)
c.4130G>T (p.Gly1377Val)
11g.78708515C=CA1984826729TENM4c.4055G= (p.Gly1352=)
c.4103G= (p.Gly1368=)
c.4082G= (p.Gly1361=)
c.4028G= (p.Gly1343=)
c.4004G= (p.Gly1335=)
c.3899G= (p.Gly1300=)
c.2942G= (p.Gly981=)
c.1556G= (p.Gly519=)
c.1499G= (p.Gly500=)
c.-47G= (n.-47G=)
c.4130G= (p.Gly1377=)
11g.78708515C>GCA382149651TENM4c.4055G>C (p.Gly1352Ala)
c.4103G>C (p.Gly1368Ala)
c.4082G>C (p.Gly1361Ala)
c.4028G>C (p.Gly1343Ala)
c.4004G>C (p.Gly1335Ala)
c.3899G>C (p.Gly1300Ala)
c.2942G>C (p.Gly981Ala)
c.1556G>C (p.Gly519Ala)
c.1499G>C (p.Gly500Ala)
c.-47G>C (n.-47G>C)
c.4130G>C (p.Gly1377Ala)
11g.78708515C>TCA6206886TENM4c.4055G>A (p.Gly1352Asp)
c.4103G>A (p.Gly1368Asp)
c.4082G>A (p.Gly1361Asp)
c.4028G>A (p.Gly1343Asp)
c.4004G>A (p.Gly1335Asp)
c.3899G>A (p.Gly1300Asp)
c.2942G>A (p.Gly981Asp)
c.1556G>A (p.Gly519Asp)
c.1499G>A (p.Gly500Asp)
c.-47G>A (n.-47G>A)
c.4130G>A (p.Gly1377Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.78708516C>ACA382149656TENM4c.4055-1G>T (n.4055-1G>T)
c.4103-1G>T (n.4103-1G>T)
c.4082-1G>T (n.4082-1G>T)
c.4028-1G>T (n.4028-1G>T)
c.4004-1G>T (n.4004-1G>T)
c.3899-1G>T (n.3899-1G>T)
c.2942-1G>T (n.2942-1G>T)
c.1556-1G>T (n.1556-1G>T)
c.1499-1G>T (n.1499-1G>T)
c.-47-1G>T (n.-47-1G>T)
c.4130-1G>T (n.4130-1G>T)
11g.78708516C>GCA382149657TENM4c.4055-1G>C (n.4055-1G>C)
c.4103-1G>C (n.4103-1G>C)
c.4082-1G>C (n.4082-1G>C)
c.4028-1G>C (n.4028-1G>C)
c.4004-1G>C (n.4004-1G>C)
c.3899-1G>C (n.3899-1G>C)
c.2942-1G>C (n.2942-1G>C)
c.1556-1G>C (n.1556-1G>C)
c.1499-1G>C (n.1499-1G>C)
c.-47-1G>C (n.-47-1G>C)
c.4130-1G>C (n.4130-1G>C)
11g.78708516C>TCA382149659TENM4c.4055-1G>A (n.4055-1G>A)
c.4103-1G>A (n.4103-1G>A)
c.4082-1G>A (n.4082-1G>A)
c.4028-1G>A (n.4028-1G>A)
c.4004-1G>A (n.4004-1G>A)
c.3899-1G>A (n.3899-1G>A)
c.2942-1G>A (n.2942-1G>A)
c.1556-1G>A (n.1556-1G>A)
c.1499-1G>A (n.1499-1G>A)
c.-47-1G>A (n.-47-1G>A)
c.4130-1G>A (n.4130-1G>A)
11g.78708517T>ACA382149663TENM4c.4055-2A>T (n.4055-2A>T)
c.4103-2A>T (n.4103-2A>T)
c.4082-2A>T (n.4082-2A>T)
c.4028-2A>T (n.4028-2A>T)
c.4004-2A>T (n.4004-2A>T)
c.3899-2A>T (n.3899-2A>T)
c.2942-2A>T (n.2942-2A>T)
c.1556-2A>T (n.1556-2A>T)
c.1499-2A>T (n.1499-2A>T)
c.-47-2A>T (n.-47-2A>T)
c.4130-2A>T (n.4130-2A>T)
11g.78708517T>CCA382149665TENM4c.4055-2A>G (n.4055-2A>G)
c.4103-2A>G (n.4103-2A>G)
c.4082-2A>G (n.4082-2A>G)
c.4028-2A>G (n.4028-2A>G)
c.4004-2A>G (n.4004-2A>G)
c.3899-2A>G (n.3899-2A>G)
c.2942-2A>G (n.2942-2A>G)
c.1556-2A>G (n.1556-2A>G)
c.1499-2A>G (n.1499-2A>G)
c.-47-2A>G (n.-47-2A>G)
c.4130-2A>G (n.4130-2A>G)
11g.78708517T>GCA382149667TENM4c.4055-2A>C (n.4055-2A>C)
c.4103-2A>C (n.4103-2A>C)
c.4082-2A>C (n.4082-2A>C)
c.4028-2A>C (n.4028-2A>C)
c.4004-2A>C (n.4004-2A>C)
c.3899-2A>C (n.3899-2A>C)
c.2942-2A>C (n.2942-2A>C)
c.1556-2A>C (n.1556-2A>C)
c.1499-2A>C (n.1499-2A>C)
c.-47-2A>C (n.-47-2A>C)
c.4130-2A>C (n.4130-2A>C)
11g.78708517dupCA2615334408TENM4c.4055-2dup (n.4055-2dup)
c.4103-2dup (n.4103-2dup)
c.4082-2dup (n.4082-2dup)
c.4028-2dup (n.4028-2dup)
c.4004-2dup (n.4004-2dup)
c.3899-2dup (n.3899-2dup)
c.2942-2dup (n.2942-2dup)
c.1556-2dup (n.1556-2dup)
c.1499-2dup (n.1499-2dup)
c.-47-2dup (n.-47-2dup)
c.4130-2dup (n.4130-2dup)
 gnomAD v4
11g.78708517_78708518delinsTGCA1984826734TENM4c.4055-3_4055-2delinsCA (n.4055-3_4055-2delinsCA)
c.4103-3_4103-2delinsCA (n.4103-3_4103-2delinsCA)
c.4082-3_4082-2delinsCA (n.4082-3_4082-2delinsCA)
c.4028-3_4028-2delinsCA (n.4028-3_4028-2delinsCA)
c.4004-3_4004-2delinsCA (n.4004-3_4004-2delinsCA)
c.3899-3_3899-2delinsCA (n.3899-3_3899-2delinsCA)
c.2942-3_2942-2delinsCA (n.2942-3_2942-2delinsCA)
c.1556-3_1556-2delinsCA (n.1556-3_1556-2delinsCA)
c.1499-3_1499-2delinsCA (n.1499-3_1499-2delinsCA)
c.-47-3_-47-2delinsCA (n.-47-3_-47-2delinsCA)
c.4130-3_4130-2delinsCA (n.4130-3_4130-2delinsCA)
11g.78708518G>ACA1984826738TENM4c.4055-3C>T (n.4055-3C>T)
c.4103-3C>T (n.4103-3C>T)
c.4082-3C>T (n.4082-3C>T)
c.4028-3C>T (n.4028-3C>T)
c.4004-3C>T (n.4004-3C>T)
c.3899-3C>T (n.3899-3C>T)
c.2942-3C>T (n.2942-3C>T)
c.1556-3C>T (n.1556-3C>T)
c.1499-3C>T (n.1499-3C>T)
c.-47-3C>T (n.-47-3C>T)
c.4130-3C>T (n.4130-3C>T)
 dbSNP gnomAD v4
11g.78708518G=CA1984826735TENM4c.4055-3C= (n.4055-3C=)
c.4103-3C= (n.4103-3C=)
c.4082-3C= (n.4082-3C=)
c.4028-3C= (n.4028-3C=)
c.4004-3C= (n.4004-3C=)
c.3899-3C= (n.3899-3C=)
c.2942-3C= (n.2942-3C=)
c.1556-3C= (n.1556-3C=)
c.1499-3C= (n.1499-3C=)
c.-47-3C= (n.-47-3C=)
c.4130-3C= (n.4130-3C=)
11g.78708522delCA1984826736TENM4c.4055-3del (n.4055-3del)
c.4103-3del (n.4103-3del)
c.4082-3del (n.4082-3del)
c.4028-3del (n.4028-3del)
c.4004-3del (n.4004-3del)
c.3899-3del (n.3899-3del)
c.2942-3del (n.2942-3del)
c.1556-3del (n.1556-3del)
c.1499-3del (n.1499-3del)
c.-47-3del (n.-47-3del)
c.4130-3del (n.4130-3del)
 dbSNP
11g.78708519G>ACA2615334409TENM4c.4055-4C>T (n.4055-4C>T)
c.4103-4C>T (n.4103-4C>T)
c.4082-4C>T (n.4082-4C>T)
c.4028-4C>T (n.4028-4C>T)
c.4004-4C>T (n.4004-4C>T)
c.3899-4C>T (n.3899-4C>T)
c.2942-4C>T (n.2942-4C>T)
c.1556-4C>T (n.1556-4C>T)
c.1499-4C>T (n.1499-4C>T)
c.-47-4C>T (n.-47-4C>T)
c.4130-4C>T (n.4130-4C>T)
 gnomAD v4
11g.78708520G>ACA1984826740TENM4c.4055-5C>T (n.4055-5C>T)
c.4103-5C>T (n.4103-5C>T)
c.4082-5C>T (n.4082-5C>T)
c.4028-5C>T (n.4028-5C>T)
c.4004-5C>T (n.4004-5C>T)
c.3899-5C>T (n.3899-5C>T)
c.2942-5C>T (n.2942-5C>T)
c.1556-5C>T (n.1556-5C>T)
c.1499-5C>T (n.1499-5C>T)
c.-47-5C>T (n.-47-5C>T)
c.4130-5C>T (n.4130-5C>T)
 dbSNP
11g.78708520G=CA1984826739TENM4c.4055-5C= (n.4055-5C=)
c.4103-5C= (n.4103-5C=)
c.4082-5C= (n.4082-5C=)
c.4028-5C= (n.4028-5C=)
c.4004-5C= (n.4004-5C=)
c.3899-5C= (n.3899-5C=)
c.2942-5C= (n.2942-5C=)
c.1556-5C= (n.1556-5C=)
c.1499-5C= (n.1499-5C=)
c.-47-5C= (n.-47-5C=)
c.4130-5C= (n.4130-5C=)
11g.78708522G>ACA6206887TENM4c.4055-7C>T (n.4055-7C>T)
c.4103-7C>T (n.4103-7C>T)
c.4082-7C>T (n.4082-7C>T)
c.4028-7C>T (n.4028-7C>T)
c.4004-7C>T (n.4004-7C>T)
c.3899-7C>T (n.3899-7C>T)
c.2942-7C>T (n.2942-7C>T)
c.1556-7C>T (n.1556-7C>T)
c.1499-7C>T (n.1499-7C>T)
c.-47-7C>T (n.-47-7C>T)
c.4130-7C>T (n.4130-7C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.78708522G=CA1984826742TENM4c.4055-7C= (n.4055-7C=)
c.4103-7C= (n.4103-7C=)
c.4082-7C= (n.4082-7C=)
c.4028-7C= (n.4028-7C=)
c.4004-7C= (n.4004-7C=)
c.3899-7C= (n.3899-7C=)
c.2942-7C= (n.2942-7C=)
c.1556-7C= (n.1556-7C=)
c.1499-7C= (n.1499-7C=)
c.-47-7C= (n.-47-7C=)
c.4130-7C= (n.4130-7C=)
11g.78708522G>TCA6206888TENM4c.4055-7C>A (n.4055-7C>A)
c.4103-7C>A (n.4103-7C>A)
c.4082-7C>A (n.4082-7C>A)
c.4028-7C>A (n.4028-7C>A)
c.4004-7C>A (n.4004-7C>A)
c.3899-7C>A (n.3899-7C>A)
c.2942-7C>A (n.2942-7C>A)
c.1556-7C>A (n.1556-7C>A)
c.1499-7C>A (n.1499-7C>A)
c.-47-7C>A (n.-47-7C>A)
c.4130-7C>A (n.4130-7C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.78708523C=CA1984826744TENM4c.4055-8G= (n.4055-8G=)
c.4103-8G= (n.4103-8G=)
c.4082-8G= (n.4082-8G=)
c.4028-8G= (n.4028-8G=)
c.4004-8G= (n.4004-8G=)
c.3899-8G= (n.3899-8G=)
c.2942-8G= (n.2942-8G=)
c.1556-8G= (n.1556-8G=)
c.1499-8G= (n.1499-8G=)
c.-47-8G= (n.-47-8G=)
c.4130-8G= (n.4130-8G=)
11g.78708523C>GCA1984826745TENM4c.4055-8G>C (n.4055-8G>C)
c.4103-8G>C (n.4103-8G>C)
c.4082-8G>C (n.4082-8G>C)
c.4028-8G>C (n.4028-8G>C)
c.4004-8G>C (n.4004-8G>C)
c.3899-8G>C (n.3899-8G>C)
c.2942-8G>C (n.2942-8G>C)
c.1556-8G>C (n.1556-8G>C)
c.1499-8G>C (n.1499-8G>C)
c.-47-8G>C (n.-47-8G>C)
c.4130-8G>C (n.4130-8G>C)
 dbSNP
11g.78708524A=CA1984826746TENM4c.4055-9T= (n.4055-9T=)
c.4103-9T= (n.4103-9T=)
c.4082-9T= (n.4082-9T=)
c.4028-9T= (n.4028-9T=)
c.4004-9T= (n.4004-9T=)
c.3899-9T= (n.3899-9T=)
c.2942-9T= (n.2942-9T=)
c.1556-9T= (n.1556-9T=)
c.1499-9T= (n.1499-9T=)
c.-47-9T= (n.-47-9T=)
c.4130-9T= (n.4130-9T=)
11g.78708524A>GCA1984826747TENM4c.4055-9T>C (n.4055-9T>C)
c.4103-9T>C (n.4103-9T>C)
c.4082-9T>C (n.4082-9T>C)
c.4028-9T>C (n.4028-9T>C)
c.4004-9T>C (n.4004-9T>C)
c.3899-9T>C (n.3899-9T>C)
c.2942-9T>C (n.2942-9T>C)
c.1556-9T>C (n.1556-9T>C)
c.1499-9T>C (n.1499-9T>C)
c.-47-9T>C (n.-47-9T>C)
c.4130-9T>C (n.4130-9T>C)
 dbSNP
11g.78708525G>ACA1984826750TENM4c.4055-10C>T (n.4055-10C>T)
c.4103-10C>T (n.4103-10C>T)
c.4082-10C>T (n.4082-10C>T)
c.4028-10C>T (n.4028-10C>T)
c.4004-10C>T (n.4004-10C>T)
c.3899-10C>T (n.3899-10C>T)
c.2942-10C>T (n.2942-10C>T)
c.1556-10C>T (n.1556-10C>T)
c.1499-10C>T (n.1499-10C>T)
c.-47-10C>T (n.-47-10C>T)
c.4130-10C>T (n.4130-10C>T)
 dbSNP gnomAD v4
11g.78708525G=CA1984826749TENM4c.4055-10C= (n.4055-10C=)
c.4103-10C= (n.4103-10C=)
c.4082-10C= (n.4082-10C=)
c.4028-10C= (n.4028-10C=)
c.4004-10C= (n.4004-10C=)
c.3899-10C= (n.3899-10C=)
c.2942-10C= (n.2942-10C=)
c.1556-10C= (n.1556-10C=)
c.1499-10C= (n.1499-10C=)
c.-47-10C= (n.-47-10C=)
c.4130-10C= (n.4130-10C=)
11g.78708527G>ACA2615334410TENM4c.4055-12C>T (n.4055-12C>T)
c.4103-12C>T (n.4103-12C>T)
c.4082-12C>T (n.4082-12C>T)
c.4028-12C>T (n.4028-12C>T)
c.4004-12C>T (n.4004-12C>T)
c.3899-12C>T (n.3899-12C>T)
c.2942-12C>T (n.2942-12C>T)
c.1556-12C>T (n.1556-12C>T)
c.1499-12C>T (n.1499-12C>T)
c.-47-12C>T (n.-47-12C>T)
c.4130-12C>T (n.4130-12C>T)
 gnomAD v4
11g.78708527G>CCA1984826752TENM4c.4055-12C>G (n.4055-12C>G)
c.4103-12C>G (n.4103-12C>G)
c.4082-12C>G (n.4082-12C>G)
c.4028-12C>G (n.4028-12C>G)
c.4004-12C>G (n.4004-12C>G)
c.3899-12C>G (n.3899-12C>G)
c.2942-12C>G (n.2942-12C>G)
c.1556-12C>G (n.1556-12C>G)
c.1499-12C>G (n.1499-12C>G)
c.-47-12C>G (n.-47-12C>G)
c.4130-12C>G (n.4130-12C>G)
 dbSNP
11g.78708527G=CA1984826751TENM4c.4055-12C= (n.4055-12C=)
c.4103-12C= (n.4103-12C=)
c.4082-12C= (n.4082-12C=)
c.4028-12C= (n.4028-12C=)
c.4004-12C= (n.4004-12C=)
c.3899-12C= (n.3899-12C=)
c.2942-12C= (n.2942-12C=)
c.1556-12C= (n.1556-12C=)
c.1499-12C= (n.1499-12C=)
c.-47-12C= (n.-47-12C=)
c.4130-12C= (n.4130-12C=)
11g.78708527G>TCA654280207TENM4c.4055-12C>A (n.4055-12C>A)
c.4103-12C>A (n.4103-12C>A)
c.4082-12C>A (n.4082-12C>A)
c.4028-12C>A (n.4028-12C>A)
c.4004-12C>A (n.4004-12C>A)
c.3899-12C>A (n.3899-12C>A)
c.2942-12C>A (n.2942-12C>A)
c.1556-12C>A (n.1556-12C>A)
c.1499-12C>A (n.1499-12C>A)
c.-47-12C>A (n.-47-12C>A)
c.4130-12C>A (n.4130-12C>A)
 gnomAD v4 COSMIC
11g.78708528A>TCA2615334411TENM4c.4055-13T>A (n.4055-13T>A)
c.4103-13T>A (n.4103-13T>A)
c.4082-13T>A (n.4082-13T>A)
c.4028-13T>A (n.4028-13T>A)
c.4004-13T>A (n.4004-13T>A)
c.3899-13T>A (n.3899-13T>A)
c.2942-13T>A (n.2942-13T>A)
c.1556-13T>A (n.1556-13T>A)
c.1499-13T>A (n.1499-13T>A)
c.-47-13T>A (n.-47-13T>A)
c.4130-13T>A (n.4130-13T>A)
 gnomAD v4
11g.78708529A=CA1984826754TENM4c.4055-14T= (n.4055-14T=)
c.4103-14T= (n.4103-14T=)
c.4082-14T= (n.4082-14T=)
c.4028-14T= (n.4028-14T=)
c.4004-14T= (n.4004-14T=)
c.3899-14T= (n.3899-14T=)
c.2942-14T= (n.2942-14T=)
c.1556-14T= (n.1556-14T=)
c.1499-14T= (n.1499-14T=)
c.-47-14T= (n.-47-14T=)
c.4130-14T= (n.4130-14T=)
11g.78708529A>GCA6206889TENM4c.4055-14T>C (n.4055-14T>C)
c.4103-14T>C (n.4103-14T>C)
c.4082-14T>C (n.4082-14T>C)
c.4028-14T>C (n.4028-14T>C)
c.4004-14T>C (n.4004-14T>C)
c.3899-14T>C (n.3899-14T>C)
c.2942-14T>C (n.2942-14T>C)
c.1556-14T>C (n.1556-14T>C)
c.1499-14T>C (n.1499-14T>C)
c.-47-14T>C (n.-47-14T>C)
c.4130-14T>C (n.4130-14T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.78708530G>ACA2792830781TENM4c.4055-15C>T (n.4055-15C>T)
c.4103-15C>T (n.4103-15C>T)
c.4082-15C>T (n.4082-15C>T)
c.4028-15C>T (n.4028-15C>T)
c.4004-15C>T (n.4004-15C>T)
c.3899-15C>T (n.3899-15C>T)
c.2942-15C>T (n.2942-15C>T)
c.1556-15C>T (n.1556-15C>T)
c.1499-15C>T (n.1499-15C>T)
c.-47-15C>T (n.-47-15C>T)
c.4130-15C>T (n.4130-15C>T)
11g.78708530G>CCA6206890TENM4c.4055-15C>G (n.4055-15C>G)
c.4103-15C>G (n.4103-15C>G)
c.4082-15C>G (n.4082-15C>G)
c.4028-15C>G (n.4028-15C>G)
c.4004-15C>G (n.4004-15C>G)
c.3899-15C>G (n.3899-15C>G)
c.2942-15C>G (n.2942-15C>G)
c.1556-15C>G (n.1556-15C>G)
c.1499-15C>G (n.1499-15C>G)
c.-47-15C>G (n.-47-15C>G)
c.4130-15C>G (n.4130-15C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.78708530G=CA1984826756TENM4c.4055-15C= (n.4055-15C=)
c.4103-15C= (n.4103-15C=)
c.4082-15C= (n.4082-15C=)
c.4028-15C= (n.4028-15C=)
c.4004-15C= (n.4004-15C=)
c.3899-15C= (n.3899-15C=)
c.2942-15C= (n.2942-15C=)
c.1556-15C= (n.1556-15C=)
c.1499-15C= (n.1499-15C=)
c.-47-15C= (n.-47-15C=)
c.4130-15C= (n.4130-15C=)
11g.78708531C>ACA2615334412TENM4c.4055-16G>T (n.4055-16G>T)
c.4103-16G>T (n.4103-16G>T)
c.4082-16G>T (n.4082-16G>T)
c.4028-16G>T (n.4028-16G>T)
c.4004-16G>T (n.4004-16G>T)
c.3899-16G>T (n.3899-16G>T)
c.2942-16G>T (n.2942-16G>T)
c.1556-16G>T (n.1556-16G>T)
c.1499-16G>T (n.1499-16G>T)
c.-47-16G>T (n.-47-16G>T)
c.4130-16G>T (n.4130-16G>T)
 gnomAD v4
11g.78708532C>ACA6206891TENM4c.4055-17G>T (n.4055-17G>T)
c.4103-17G>T (n.4103-17G>T)
c.4082-17G>T (n.4082-17G>T)
c.4028-17G>T (n.4028-17G>T)
c.4004-17G>T (n.4004-17G>T)
c.3899-17G>T (n.3899-17G>T)
c.2942-17G>T (n.2942-17G>T)
c.1556-17G>T (n.1556-17G>T)
c.1499-17G>T (n.1499-17G>T)
c.-47-17G>T (n.-47-17G>T)
c.4130-17G>T (n.4130-17G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.78708532C=CA1984826758TENM4c.4055-17G= (n.4055-17G=)
c.4103-17G= (n.4103-17G=)
c.4082-17G= (n.4082-17G=)
c.4028-17G= (n.4028-17G=)
c.4004-17G= (n.4004-17G=)
c.3899-17G= (n.3899-17G=)
c.2942-17G= (n.2942-17G=)
c.1556-17G= (n.1556-17G=)
c.1499-17G= (n.1499-17G=)
c.-47-17G= (n.-47-17G=)
c.4130-17G= (n.4130-17G=)
11g.78708532C>TCA680514967TENM4c.4055-17G>A (n.4055-17G>A)
c.4103-17G>A (n.4103-17G>A)
c.4082-17G>A (n.4082-17G>A)
c.4028-17G>A (n.4028-17G>A)
c.4004-17G>A (n.4004-17G>A)
c.3899-17G>A (n.3899-17G>A)
c.2942-17G>A (n.2942-17G>A)
c.1556-17G>A (n.1556-17G>A)
c.1499-17G>A (n.1499-17G>A)
c.-47-17G>A (n.-47-17G>A)
c.4130-17G>A (n.4130-17G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.78708533A=CA1984826760TENM4c.4055-18T= (n.4055-18T=)
c.4103-18T= (n.4103-18T=)
c.4082-18T= (n.4082-18T=)
c.4028-18T= (n.4028-18T=)
c.4004-18T= (n.4004-18T=)
c.3899-18T= (n.3899-18T=)
c.2942-18T= (n.2942-18T=)
c.1556-18T= (n.1556-18T=)
c.1499-18T= (n.1499-18T=)
c.-47-18T= (n.-47-18T=)
c.4130-18T= (n.4130-18T=)
11g.78708533A>GCA680514974TENM4c.4055-18T>C (n.4055-18T>C)
c.4103-18T>C (n.4103-18T>C)
c.4082-18T>C (n.4082-18T>C)
c.4028-18T>C (n.4028-18T>C)
c.4004-18T>C (n.4004-18T>C)
c.3899-18T>C (n.3899-18T>C)
c.2942-18T>C (n.2942-18T>C)
c.1556-18T>C (n.1556-18T>C)
c.1499-18T>C (n.1499-18T>C)
c.-47-18T>C (n.-47-18T>C)
c.4130-18T>C (n.4130-18T>C)
 dbSNP
11g.78708535A>CCA2792830782TENM4c.4055-20T>G (n.4055-20T>G)
c.4103-20T>G (n.4103-20T>G)
c.4082-20T>G (n.4082-20T>G)
c.4028-20T>G (n.4028-20T>G)
c.4004-20T>G (n.4004-20T>G)
c.3899-20T>G (n.3899-20T>G)
c.2942-20T>G (n.2942-20T>G)
c.1556-20T>G (n.1556-20T>G)
c.1499-20T>G (n.1499-20T>G)
c.-47-20T>G (n.-47-20T>G)
c.4130-20T>G (n.4130-20T>G)
11g.78708536A=CA1984826762TENM4c.4055-21T= (n.4055-21T=)
c.4103-21T= (n.4103-21T=)
c.4082-21T= (n.4082-21T=)
c.4028-21T= (n.4028-21T=)
c.4004-21T= (n.4004-21T=)
c.3899-21T= (n.3899-21T=)
c.2942-21T= (n.2942-21T=)
c.1556-21T= (n.1556-21T=)
c.1499-21T= (n.1499-21T=)
c.-47-21T= (n.-47-21T=)
c.4130-21T= (n.4130-21T=)
11g.78708536A>GCA1984826763TENM4c.4055-21T>C (n.4055-21T>C)
c.4103-21T>C (n.4103-21T>C)
c.4082-21T>C (n.4082-21T>C)
c.4028-21T>C (n.4028-21T>C)
c.4004-21T>C (n.4004-21T>C)
c.3899-21T>C (n.3899-21T>C)
c.2942-21T>C (n.2942-21T>C)
c.1556-21T>C (n.1556-21T>C)
c.1499-21T>C (n.1499-21T>C)
c.-47-21T>C (n.-47-21T>C)
c.4130-21T>C (n.4130-21T>C)
 dbSNP gnomAD v4
11g.78708537_78708538insCCAAACACACCCAACACCA2792830783TENM4c.4055-21_4055-20insGTTGGGTGTGTTTGGGT (n.4055-21_4055-20insGTTGGGTGTGTTTGGGT)
c.4103-21_4103-20insGTTGGGTGTGTTTGGGT (n.4103-21_4103-20insGTTGGGTGTGTTTGGGT)
c.4082-21_4082-20insGTTGGGTGTGTTTGGGT (n.4082-21_4082-20insGTTGGGTGTGTTTGGGT)
c.4028-21_4028-20insGTTGGGTGTGTTTGGGT (n.4028-21_4028-20insGTTGGGTGTGTTTGGGT)
c.4004-21_4004-20insGTTGGGTGTGTTTGGGT (n.4004-21_4004-20insGTTGGGTGTGTTTGGGT)
c.3899-21_3899-20insGTTGGGTGTGTTTGGGT (n.3899-21_3899-20insGTTGGGTGTGTTTGGGT)
c.2942-21_2942-20insGTTGGGTGTGTTTGGGT (n.2942-21_2942-20insGTTGGGTGTGTTTGGGT)
c.1556-21_1556-20insGTTGGGTGTGTTTGGGT (n.1556-21_1556-20insGTTGGGTGTGTTTGGGT)
c.1499-21_1499-20insGTTGGGTGTGTTTGGGT (n.1499-21_1499-20insGTTGGGTGTGTTTGGGT)
c.-47-21_-47-20insGTTGGGTGTGTTTGGGT (n.-47-21_-47-20insGTTGGGTGTGTTTGGGT)
c.4130-21_4130-20insGTTGGGTGTGTTTGGGT (n.4130-21_4130-20insGTTGGGTGTGTTTGGGT)
11g.78708537C>TCA2615334413TENM4c.4055-22G>A (n.4055-22G>A)
c.4103-22G>A (n.4103-22G>A)
c.4082-22G>A (n.4082-22G>A)
c.4028-22G>A (n.4028-22G>A)
c.4004-22G>A (n.4004-22G>A)
c.3899-22G>A (n.3899-22G>A)
c.2942-22G>A (n.2942-22G>A)
c.1556-22G>A (n.1556-22G>A)
c.1499-22G>A (n.1499-22G>A)
c.-47-22G>A (n.-47-22G>A)
c.4130-22G>A (n.4130-22G>A)
 gnomAD v4
11g.78708538A=CA1984826765TENM4c.4055-23T= (n.4055-23T=)
c.4103-23T= (n.4103-23T=)
c.4082-23T= (n.4082-23T=)
c.4028-23T= (n.4028-23T=)
c.4004-23T= (n.4004-23T=)
c.3899-23T= (n.3899-23T=)
c.2942-23T= (n.2942-23T=)
c.1556-23T= (n.1556-23T=)
c.1499-23T= (n.1499-23T=)
c.-47-23T= (n.-47-23T=)
c.4130-23T= (n.4130-23T=)
11g.78708538A>GCA939896649TENM4c.4055-23T>C (n.4055-23T>C)
c.4103-23T>C (n.4103-23T>C)
c.4082-23T>C (n.4082-23T>C)
c.4028-23T>C (n.4028-23T>C)
c.4004-23T>C (n.4004-23T>C)
c.3899-23T>C (n.3899-23T>C)
c.2942-23T>C (n.2942-23T>C)
c.1556-23T>C (n.1556-23T>C)
c.1499-23T>C (n.1499-23T>C)
c.-47-23T>C (n.-47-23T>C)
c.4130-23T>C (n.4130-23T>C)
 dbSNP gnomAD v3 gnomAD v4
11g.78708539G>ACA2615334414TENM4c.4055-24C>T (n.4055-24C>T)
c.4103-24C>T (n.4103-24C>T)
c.4082-24C>T (n.4082-24C>T)
c.4028-24C>T (n.4028-24C>T)
c.4004-24C>T (n.4004-24C>T)
c.3899-24C>T (n.3899-24C>T)
c.2942-24C>T (n.2942-24C>T)
c.1556-24C>T (n.1556-24C>T)
c.1499-24C>T (n.1499-24C>T)
c.-47-24C>T (n.-47-24C>T)
c.4130-24C>T (n.4130-24C>T)
 gnomAD v4
11g.78708540G>ACA600385702TENM4c.4055-25C>T (n.4055-25C>T)
c.4103-25C>T (n.4103-25C>T)
c.4082-25C>T (n.4082-25C>T)
c.4028-25C>T (n.4028-25C>T)
c.4004-25C>T (n.4004-25C>T)
c.3899-25C>T (n.3899-25C>T)
c.2942-25C>T (n.2942-25C>T)
c.1556-25C>T (n.1556-25C>T)
c.1499-25C>T (n.1499-25C>T)
c.-47-25C>T (n.-47-25C>T)
c.4130-25C>T (n.4130-25C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.78708540G=CA1984826768TENM4c.4055-25C= (n.4055-25C=)
c.4103-25C= (n.4103-25C=)
c.4082-25C= (n.4082-25C=)
c.4028-25C= (n.4028-25C=)
c.4004-25C= (n.4004-25C=)
c.3899-25C= (n.3899-25C=)
c.2942-25C= (n.2942-25C=)
c.1556-25C= (n.1556-25C=)
c.1499-25C= (n.1499-25C=)
c.-47-25C= (n.-47-25C=)
c.4130-25C= (n.4130-25C=)
11g.78708543C>TCA2523807175TENM4c.4055-28G>A (n.4055-28G>A)
c.4103-28G>A (n.4103-28G>A)
c.4082-28G>A (n.4082-28G>A)
c.4028-28G>A (n.4028-28G>A)
c.4004-28G>A (n.4004-28G>A)
c.3899-28G>A (n.3899-28G>A)
c.2942-28G>A (n.2942-28G>A)
c.1556-28G>A (n.1556-28G>A)
c.1499-28G>A (n.1499-28G>A)
c.-47-28G>A (n.-47-28G>A)
c.4130-28G>A (n.4130-28G>A)
11g.78708544T>ACA224954060TENM4c.4055-29A>T (n.4055-29A>T)
c.4103-29A>T (n.4103-29A>T)
c.4082-29A>T (n.4082-29A>T)
c.4028-29A>T (n.4028-29A>T)
c.4004-29A>T (n.4004-29A>T)
c.3899-29A>T (n.3899-29A>T)
c.2942-29A>T (n.2942-29A>T)
c.1556-29A>T (n.1556-29A>T)
c.1499-29A>T (n.1499-29A>T)
c.-47-29A>T (n.-47-29A>T)
c.4130-29A>T (n.4130-29A>T)
 dbSNP gnomAD v4
11g.78708544T>CCA1984826772TENM4c.4055-29A>G (n.4055-29A>G)
c.4103-29A>G (n.4103-29A>G)
c.4082-29A>G (n.4082-29A>G)
c.4028-29A>G (n.4028-29A>G)
c.4004-29A>G (n.4004-29A>G)
c.3899-29A>G (n.3899-29A>G)
c.2942-29A>G (n.2942-29A>G)
c.1556-29A>G (n.1556-29A>G)
c.1499-29A>G (n.1499-29A>G)
c.-47-29A>G (n.-47-29A>G)
c.4130-29A>G (n.4130-29A>G)
 dbSNP
11g.78708544T=CA1984826770TENM4c.4055-29A= (n.4055-29A=)
c.4103-29A= (n.4103-29A=)
c.4082-29A= (n.4082-29A=)
c.4028-29A= (n.4028-29A=)
c.4004-29A= (n.4004-29A=)
c.3899-29A= (n.3899-29A=)
c.2942-29A= (n.2942-29A=)
c.1556-29A= (n.1556-29A=)
c.1499-29A= (n.1499-29A=)
c.-47-29A= (n.-47-29A=)
c.4130-29A= (n.4130-29A=)
11g.78708547G>TCA2615334415TENM4c.4055-32C>A (n.4055-32C>A)
c.4103-32C>A (n.4103-32C>A)
c.4082-32C>A (n.4082-32C>A)
c.4028-32C>A (n.4028-32C>A)
c.4004-32C>A (n.4004-32C>A)
c.3899-32C>A (n.3899-32C>A)
c.2942-32C>A (n.2942-32C>A)
c.1556-32C>A (n.1556-32C>A)
c.1499-32C>A (n.1499-32C>A)
c.-47-32C>A (n.-47-32C>A)
c.4130-32C>A (n.4130-32C>A)
 gnomAD v4
11g.78708549A=CA1984826774TENM4c.4055-34T= (n.4055-34T=)
c.4103-34T= (n.4103-34T=)
c.4082-34T= (n.4082-34T=)
c.4028-34T= (n.4028-34T=)
c.4004-34T= (n.4004-34T=)
c.3899-34T= (n.3899-34T=)
c.2942-34T= (n.2942-34T=)
c.1556-34T= (n.1556-34T=)
c.1499-34T= (n.1499-34T=)
c.-47-34T= (n.-47-34T=)
c.4130-34T= (n.4130-34T=)
11g.78708549A>GCA680514979TENM4c.4055-34T>C (n.4055-34T>C)
c.4103-34T>C (n.4103-34T>C)
c.4082-34T>C (n.4082-34T>C)
c.4028-34T>C (n.4028-34T>C)
c.4004-34T>C (n.4004-34T>C)
c.3899-34T>C (n.3899-34T>C)
c.2942-34T>C (n.2942-34T>C)
c.1556-34T>C (n.1556-34T>C)
c.1499-34T>C (n.1499-34T>C)
c.-47-34T>C (n.-47-34T>C)
c.4130-34T>C (n.4130-34T>C)
 dbSNP gnomAD v3 gnomAD v4
11g.78708549A>TCA6206892TENM4c.4055-34T>A (n.4055-34T>A)
c.4103-34T>A (n.4103-34T>A)
c.4082-34T>A (n.4082-34T>A)
c.4028-34T>A (n.4028-34T>A)
c.4004-34T>A (n.4004-34T>A)
c.3899-34T>A (n.3899-34T>A)
c.2942-34T>A (n.2942-34T>A)
c.1556-34T>A (n.1556-34T>A)
c.1499-34T>A (n.1499-34T>A)
c.-47-34T>A (n.-47-34T>A)
c.4130-34T>A (n.4130-34T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.78708552A>GCA2615334416TENM4c.4055-37T>C (n.4055-37T>C)
c.4103-37T>C (n.4103-37T>C)
c.4082-37T>C (n.4082-37T>C)
c.4028-37T>C (n.4028-37T>C)
c.4004-37T>C (n.4004-37T>C)
c.3899-37T>C (n.3899-37T>C)
c.2942-37T>C (n.2942-37T>C)
c.1556-37T>C (n.1556-37T>C)
c.1499-37T>C (n.1499-37T>C)
c.-47-37T>C (n.-47-37T>C)
c.4130-37T>C (n.4130-37T>C)
 gnomAD v4
11g.78708555G>ACA600385703TENM4c.4055-40C>T (n.4055-40C>T)
c.4103-40C>T (n.4103-40C>T)
c.4082-40C>T (n.4082-40C>T)
c.4028-40C>T (n.4028-40C>T)
c.4004-40C>T (n.4004-40C>T)
c.3899-40C>T (n.3899-40C>T)
c.2942-40C>T (n.2942-40C>T)
c.1556-40C>T (n.1556-40C>T)
c.1499-40C>T (n.1499-40C>T)
c.-47-40C>T (n.-47-40C>T)
c.4130-40C>T (n.4130-40C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.78708555G=CA1984826776TENM4c.4055-40C= (n.4055-40C=)
c.4103-40C= (n.4103-40C=)
c.4082-40C= (n.4082-40C=)
c.4028-40C= (n.4028-40C=)
c.4004-40C= (n.4004-40C=)
c.3899-40C= (n.3899-40C=)
c.2942-40C= (n.2942-40C=)
c.1556-40C= (n.1556-40C=)
c.1499-40C= (n.1499-40C=)
c.-47-40C= (n.-47-40C=)
c.4130-40C= (n.4130-40C=)
11g.78708558G>ACA2574936926TENM4c.4055-43C>T (n.4055-43C>T)
c.4103-43C>T (n.4103-43C>T)
c.4082-43C>T (n.4082-43C>T)
c.4028-43C>T (n.4028-43C>T)
c.4004-43C>T (n.4004-43C>T)
c.3899-43C>T (n.3899-43C>T)
c.2942-43C>T (n.2942-43C>T)
c.1556-43C>T (n.1556-43C>T)
c.1499-43C>T (n.1499-43C>T)
c.-47-43C>T (n.-47-43C>T)
c.4130-43C>T (n.4130-43C>T)
 gnomAD v4
11g.78708558G>TCA2615334417TENM4c.4055-43C>A (n.4055-43C>A)
c.4103-43C>A (n.4103-43C>A)
c.4082-43C>A (n.4082-43C>A)
c.4028-43C>A (n.4028-43C>A)
c.4004-43C>A (n.4004-43C>A)
c.3899-43C>A (n.3899-43C>A)
c.2942-43C>A (n.2942-43C>A)
c.1556-43C>A (n.1556-43C>A)
c.1499-43C>A (n.1499-43C>A)
c.-47-43C>A (n.-47-43C>A)
c.4130-43C>A (n.4130-43C>A)
 gnomAD v4
11g.78708559A>GCA2615334418TENM4c.4055-44T>C (n.4055-44T>C)
c.4103-44T>C (n.4103-44T>C)
c.4082-44T>C (n.4082-44T>C)
c.4028-44T>C (n.4028-44T>C)
c.4004-44T>C (n.4004-44T>C)
c.3899-44T>C (n.3899-44T>C)
c.2942-44T>C (n.2942-44T>C)
c.1556-44T>C (n.1556-44T>C)
c.1499-44T>C (n.1499-44T>C)
c.-47-44T>C (n.-47-44T>C)
c.4130-44T>C (n.4130-44T>C)
 gnomAD v4
11g.78708559A>TCA2615334419TENM4c.4055-44T>A (n.4055-44T>A)
c.4103-44T>A (n.4103-44T>A)
c.4082-44T>A (n.4082-44T>A)
c.4028-44T>A (n.4028-44T>A)
c.4004-44T>A (n.4004-44T>A)
c.3899-44T>A (n.3899-44T>A)
c.2942-44T>A (n.2942-44T>A)
c.1556-44T>A (n.1556-44T>A)
c.1499-44T>A (n.1499-44T>A)
c.-47-44T>A (n.-47-44T>A)
c.4130-44T>A (n.4130-44T>A)
 gnomAD v4
11g.78708561_78708563delCA2615334420TENM4c.4055-48_4055-46del (n.4055-48_4055-46del)
c.4103-48_4103-46del (n.4103-48_4103-46del)
c.4082-48_4082-46del (n.4082-48_4082-46del)
c.4028-48_4028-46del (n.4028-48_4028-46del)
c.4004-48_4004-46del (n.4004-48_4004-46del)
c.3899-48_3899-46del (n.3899-48_3899-46del)
c.2942-48_2942-46del (n.2942-48_2942-46del)
c.1556-48_1556-46del (n.1556-48_1556-46del)
c.1499-48_1499-46del (n.1499-48_1499-46del)
c.-47-48_-47-46del (n.-47-48_-47-46del)
c.4130-48_4130-46del (n.4130-48_4130-46del)
 gnomAD v4
11g.78708562A>GCA2724546870TENM4c.4055-47T>C (n.4055-47T>C)
c.4103-47T>C (n.4103-47T>C)
c.4082-47T>C (n.4082-47T>C)
c.4028-47T>C (n.4028-47T>C)
c.4004-47T>C (n.4004-47T>C)
c.3899-47T>C (n.3899-47T>C)
c.2942-47T>C (n.2942-47T>C)
c.1556-47T>C (n.1556-47T>C)
c.1499-47T>C (n.1499-47T>C)
c.-47-47T>C (n.-47-47T>C)
c.4130-47T>C (n.4130-47T>C)
 dbSNP
11g.78708562A>TCA2615334421TENM4c.4055-47T>A (n.4055-47T>A)
c.4103-47T>A (n.4103-47T>A)
c.4082-47T>A (n.4082-47T>A)
c.4028-47T>A (n.4028-47T>A)
c.4004-47T>A (n.4004-47T>A)
c.3899-47T>A (n.3899-47T>A)
c.2942-47T>A (n.2942-47T>A)
c.1556-47T>A (n.1556-47T>A)
c.1499-47T>A (n.1499-47T>A)
c.-47-47T>A (n.-47-47T>A)
c.4130-47T>A (n.4130-47T>A)
 gnomAD v4
11g.78708563T>CCA2574936927TENM4c.4055-48A>G (n.4055-48A>G)
c.4103-48A>G (n.4103-48A>G)
c.4082-48A>G (n.4082-48A>G)
c.4028-48A>G (n.4028-48A>G)
c.4004-48A>G (n.4004-48A>G)
c.3899-48A>G (n.3899-48A>G)
c.2942-48A>G (n.2942-48A>G)
c.1556-48A>G (n.1556-48A>G)
c.1499-48A>G (n.1499-48A>G)
c.-47-48A>G (n.-47-48A>G)
c.4130-48A>G (n.4130-48A>G)
 gnomAD v4
11g.78708563T>GCA600385704TENM4c.4055-48A>C (n.4055-48A>C)
c.4103-48A>C (n.4103-48A>C)
c.4082-48A>C (n.4082-48A>C)
c.4028-48A>C (n.4028-48A>C)
c.4004-48A>C (n.4004-48A>C)
c.3899-48A>C (n.3899-48A>C)
c.2942-48A>C (n.2942-48A>C)
c.1556-48A>C (n.1556-48A>C)
c.1499-48A>C (n.1499-48A>C)
c.-47-48A>C (n.-47-48A>C)
c.4130-48A>C (n.4130-48A>C)
 dbSNP gnomAD v2 gnomAD v4
11g.78708563T=CA1984826778TENM4c.4055-48A= (n.4055-48A=)
c.4103-48A= (n.4103-48A=)
c.4082-48A= (n.4082-48A=)
c.4028-48A= (n.4028-48A=)
c.4004-48A= (n.4004-48A=)
c.3899-48A= (n.3899-48A=)
c.2942-48A= (n.2942-48A=)
c.1556-48A= (n.1556-48A=)
c.1499-48A= (n.1499-48A=)
c.-47-48A= (n.-47-48A=)
c.4130-48A= (n.4130-48A=)
11g.78708564G>ACA600385705TENM4c.4055-49C>T (n.4055-49C>T)
c.4103-49C>T (n.4103-49C>T)
c.4082-49C>T (n.4082-49C>T)
c.4028-49C>T (n.4028-49C>T)
c.4004-49C>T (n.4004-49C>T)
c.3899-49C>T (n.3899-49C>T)
c.2942-49C>T (n.2942-49C>T)
c.1556-49C>T (n.1556-49C>T)
c.1499-49C>T (n.1499-49C>T)
c.-47-49C>T (n.-47-49C>T)
c.4130-49C>T (n.4130-49C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.78708564G=CA1984826781TENM4c.4055-49C= (n.4055-49C=)
c.4103-49C= (n.4103-49C=)
c.4082-49C= (n.4082-49C=)
c.4028-49C= (n.4028-49C=)
c.4004-49C= (n.4004-49C=)
c.3899-49C= (n.3899-49C=)
c.2942-49C= (n.2942-49C=)
c.1556-49C= (n.1556-49C=)
c.1499-49C= (n.1499-49C=)
c.-47-49C= (n.-47-49C=)
c.4130-49C= (n.4130-49C=)
11g.78708564G>TCA2615334422TENM4c.4055-49C>A (n.4055-49C>A)
c.4103-49C>A (n.4103-49C>A)
c.4082-49C>A (n.4082-49C>A)
c.4028-49C>A (n.4028-49C>A)
c.4004-49C>A (n.4004-49C>A)
c.3899-49C>A (n.3899-49C>A)
c.2942-49C>A (n.2942-49C>A)
c.1556-49C>A (n.1556-49C>A)
c.1499-49C>A (n.1499-49C>A)
c.-47-49C>A (n.-47-49C>A)
c.4130-49C>A (n.4130-49C>A)
 gnomAD v4
11g.78708566C>ACA2615334424TENM4c.4055-51G>T (n.4055-51G>T)
c.4103-51G>T (n.4103-51G>T)
c.4082-51G>T (n.4082-51G>T)
c.4028-51G>T (n.4028-51G>T)
c.4004-51G>T (n.4004-51G>T)
c.3899-51G>T (n.3899-51G>T)
c.2942-51G>T (n.2942-51G>T)
c.1556-51G>T (n.1556-51G>T)
c.1499-51G>T (n.1499-51G>T)
c.-47-51G>T (n.-47-51G>T)
c.4130-51G>T (n.4130-51G>T)
 gnomAD v4
11g.78708566C=CA1984826784TENM4c.4055-51G= (n.4055-51G=)
c.4103-51G= (n.4103-51G=)
c.4082-51G= (n.4082-51G=)
c.4028-51G= (n.4028-51G=)
c.4004-51G= (n.4004-51G=)
c.3899-51G= (n.3899-51G=)
c.2942-51G= (n.2942-51G=)
c.1556-51G= (n.1556-51G=)
c.1499-51G= (n.1499-51G=)
c.-47-51G= (n.-47-51G=)
c.4130-51G= (n.4130-51G=)
11g.78708566C>TCA1984826782TENM4c.4055-51G>A (n.4055-51G>A)
c.4103-51G>A (n.4103-51G>A)
c.4082-51G>A (n.4082-51G>A)
c.4028-51G>A (n.4028-51G>A)
c.4004-51G>A (n.4004-51G>A)
c.3899-51G>A (n.3899-51G>A)
c.2942-51G>A (n.2942-51G>A)
c.1556-51G>A (n.1556-51G>A)
c.1499-51G>A (n.1499-51G>A)
c.-47-51G>A (n.-47-51G>A)
c.4130-51G>A (n.4130-51G>A)
 dbSNP gnomAD v4
11g.78708568delCA2615334423TENM4c.4055-51del (n.4055-51del)
c.4103-51del (n.4103-51del)
c.4082-51del (n.4082-51del)
c.4028-51del (n.4028-51del)
c.4004-51del (n.4004-51del)
c.3899-51del (n.3899-51del)
c.2942-51del (n.2942-51del)
c.1556-51del (n.1556-51del)
c.1499-51del (n.1499-51del)
c.-47-51del (n.-47-51del)
c.4130-51del (n.4130-51del)
 gnomAD v4
11g.78708568C>ACA2615334425TENM4c.4055-53G>T (n.4055-53G>T)
c.4103-53G>T (n.4103-53G>T)
c.4082-53G>T (n.4082-53G>T)
c.4028-53G>T (n.4028-53G>T)
c.4004-53G>T (n.4004-53G>T)
c.3899-53G>T (n.3899-53G>T)
c.2942-53G>T (n.2942-53G>T)
c.1556-53G>T (n.1556-53G>T)
c.1499-53G>T (n.1499-53G>T)
c.-47-53G>T (n.-47-53G>T)
c.4130-53G>T (n.4130-53G>T)
 gnomAD v4
11g.78708568C=CA1984826785TENM4c.4055-53G= (n.4055-53G=)
c.4103-53G= (n.4103-53G=)
c.4082-53G= (n.4082-53G=)
c.4028-53G= (n.4028-53G=)
c.4004-53G= (n.4004-53G=)
c.3899-53G= (n.3899-53G=)
c.2942-53G= (n.2942-53G=)
c.1556-53G= (n.1556-53G=)
c.1499-53G= (n.1499-53G=)
c.-47-53G= (n.-47-53G=)
c.4130-53G= (n.4130-53G=)
11g.78708568C>TCA680514995TENM4c.4055-53G>A (n.4055-53G>A)
c.4103-53G>A (n.4103-53G>A)
c.4082-53G>A (n.4082-53G>A)
c.4028-53G>A (n.4028-53G>A)
c.4004-53G>A (n.4004-53G>A)
c.3899-53G>A (n.3899-53G>A)
c.2942-53G>A (n.2942-53G>A)
c.1556-53G>A (n.1556-53G>A)
c.1499-53G>A (n.1499-53G>A)
c.-47-53G>A (n.-47-53G>A)
c.4130-53G>A (n.4130-53G>A)
 dbSNP gnomAD v4
11g.78708569G>ACA224954071TENM4c.4055-54C>T (n.4055-54C>T)
c.4103-54C>T (n.4103-54C>T)
c.4082-54C>T (n.4082-54C>T)
c.4028-54C>T (n.4028-54C>T)
c.4004-54C>T (n.4004-54C>T)
c.3899-54C>T (n.3899-54C>T)
c.2942-54C>T (n.2942-54C>T)
c.1556-54C>T (n.1556-54C>T)
c.1499-54C>T (n.1499-54C>T)
c.-47-54C>T (n.-47-54C>T)
c.4130-54C>T (n.4130-54C>T)
 dbSNP gnomAD v4
11g.78708569G=CA1984826787TENM4c.4055-54C= (n.4055-54C=)
c.4103-54C= (n.4103-54C=)
c.4082-54C= (n.4082-54C=)
c.4028-54C= (n.4028-54C=)
c.4004-54C= (n.4004-54C=)
c.3899-54C= (n.3899-54C=)
c.2942-54C= (n.2942-54C=)
c.1556-54C= (n.1556-54C=)
c.1499-54C= (n.1499-54C=)
c.-47-54C= (n.-47-54C=)
c.4130-54C= (n.4130-54C=)
11g.78708569G>TCA2615334426TENM4c.4055-54C>A (n.4055-54C>A)
c.4103-54C>A (n.4103-54C>A)
c.4082-54C>A (n.4082-54C>A)
c.4028-54C>A (n.4028-54C>A)
c.4004-54C>A (n.4004-54C>A)
c.3899-54C>A (n.3899-54C>A)
c.2942-54C>A (n.2942-54C>A)
c.1556-54C>A (n.1556-54C>A)
c.1499-54C>A (n.1499-54C>A)
c.-47-54C>A (n.-47-54C>A)
c.4130-54C>A (n.4130-54C>A)
 gnomAD v4
11g.78708570C=CA1984826789TENM4c.4055-55G= (n.4055-55G=)
c.4103-55G= (n.4103-55G=)
c.4082-55G= (n.4082-55G=)
c.4028-55G= (n.4028-55G=)
c.4004-55G= (n.4004-55G=)
c.3899-55G= (n.3899-55G=)
c.2942-55G= (n.2942-55G=)
c.1556-55G= (n.1556-55G=)
c.1499-55G= (n.1499-55G=)
c.-47-55G= (n.-47-55G=)
c.4130-55G= (n.4130-55G=)
11g.78708570C>TCA1984826790TENM4c.4055-55G>A (n.4055-55G>A)
c.4103-55G>A (n.4103-55G>A)
c.4082-55G>A (n.4082-55G>A)
c.4028-55G>A (n.4028-55G>A)
c.4004-55G>A (n.4004-55G>A)
c.3899-55G>A (n.3899-55G>A)
c.2942-55G>A (n.2942-55G>A)
c.1556-55G>A (n.1556-55G>A)
c.1499-55G>A (n.1499-55G>A)
c.-47-55G>A (n.-47-55G>A)
c.4130-55G>A (n.4130-55G>A)
 dbSNP gnomAD v4

Number of alleles fetched