Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.113932286T>CCA6284036HTR3Bc.369-3T>C (n.369-3T>C)
c.336-3T>C (n.336-3T>C)
c.155-3T>C
c.168-3T>C (n.168-3T>C)
c.162-3T>C (n.162-3T>C)
c.75-3T>C (n.75-3T>C)
n.620-3T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113932286T>GCA2616054430HTR3Bc.369-3T>G (n.369-3T>G)
c.336-3T>G (n.336-3T>G)
c.155-3T>G
c.168-3T>G (n.168-3T>G)
c.162-3T>G (n.162-3T>G)
c.75-3T>G (n.75-3T>G)
n.620-3T>G
gnomAD v4
11g.113932286T=CA2001397909HTR3Bc.369-3T= (n.369-3T=)
c.336-3T= (n.336-3T=)
c.155-3T=
c.168-3T= (n.168-3T=)
c.162-3T= (n.162-3T=)
c.75-3T= (n.75-3T=)
n.620-3T=
11g.113932287A>CCA382668555HTR3Bc.369-2A>C (n.369-2A>C)
c.336-2A>C (n.336-2A>C)
c.155-2A>C
c.168-2A>C (n.168-2A>C)
c.162-2A>C (n.162-2A>C)
c.75-2A>C (n.75-2A>C)
n.620-2A>C
11g.113932287A>GCA382668558HTR3Bc.369-2A>G (n.369-2A>G)
c.336-2A>G (n.336-2A>G)
c.155-2A>G
c.168-2A>G (n.168-2A>G)
c.162-2A>G (n.162-2A>G)
c.75-2A>G (n.75-2A>G)
n.620-2A>G
gnomAD v4
11g.113932287A>TCA382668559HTR3Bc.369-2A>T (n.369-2A>T)
c.336-2A>T (n.336-2A>T)
c.155-2A>T
c.168-2A>T (n.168-2A>T)
c.162-2A>T (n.162-2A>T)
c.75-2A>T (n.75-2A>T)
n.620-2A>T
11g.113932288G>ACA382668562HTR3Bc.369-1G>A (n.369-1G>A)
c.336-1G>A (n.336-1G>A)
c.155-1G>A
c.168-1G>A (n.168-1G>A)
c.162-1G>A (n.162-1G>A)
c.75-1G>A (n.75-1G>A)
n.620-1G>A
11g.113932288G>CCA382668563HTR3Bc.369-1G>C (n.369-1G>C)
c.336-1G>C (n.336-1G>C)
c.155-1G>C
c.168-1G>C (n.168-1G>C)
c.162-1G>C (n.162-1G>C)
c.75-1G>C (n.75-1G>C)
n.620-1G>C
11g.113932288G>TCA382668565HTR3Bc.369-1G>T (n.369-1G>T)
c.336-1G>T (n.336-1G>T)
c.155-1G>T
c.168-1G>T (n.168-1G>T)
c.162-1G>T (n.162-1G>T)
c.75-1G>T (n.75-1G>T)
n.620-1G>T
11g.113932289T>ACA382668568HTR3Bc.369T>A (p.Phe123Leu)
c.336T>A (p.Phe112Leu)
c.155T>A
c.168T>A (p.Phe56Leu)
c.162T>A (p.Phe54Leu)
c.75T>A (p.Phe25Leu)
n.620T>A
11g.113932289T>CCA476831013HTR3Bc.369T>C (p.Phe123=)
c.336T>C (p.Phe112=)
c.155T>C
c.168T>C (p.Phe56=)
c.162T>C (p.Phe54=)
c.75T>C (p.Phe25=)
n.620T>C
11g.113932289T>GCA382668570HTR3Bc.369T>G (p.Phe123Leu)
c.336T>G (p.Phe112Leu)
c.155T>G
c.168T>G (p.Phe56Leu)
c.162T>G (p.Phe54Leu)
c.75T>G (p.Phe25Leu)
n.620T>G
11g.113932290G>ACA382668573HTR3Bc.370G>A (p.Val124Met)
c.337G>A (p.Val113Met)
c.156G>A
c.169G>A (p.Val57Met)
c.163G>A (p.Val55Met)
c.76G>A (p.Val26Met)
n.621G>A
dbSNP gnomAD v4
11g.113932290G>CCA382668579HTR3Bc.370G>C (p.Val124Leu)
c.337G>C (p.Val113Leu)
c.156G>C
c.169G>C (p.Val57Leu)
c.163G>C (p.Val55Leu)
c.76G>C (p.Val26Leu)
n.621G>C
11g.113932290G=CA2001397910HTR3Bc.370G= (p.Val124=)
c.337G= (p.Val113=)
c.156G=
c.169G= (p.Val57=)
c.163G= (p.Val55=)
c.76G= (p.Val26=)
n.621G=
11g.113932290G>TCA382668575HTR3Bc.370G>T (p.Val124Leu)
c.337G>T (p.Val113Leu)
c.156G>T
c.169G>T (p.Val57Leu)
c.163G>T (p.Val55Leu)
c.76G>T (p.Val26Leu)
n.621G>T
11g.113932291T>ACA382668581HTR3Bc.371T>A (p.Val124Glu)
c.338T>A (p.Val113Glu)
c.157T>A
c.170T>A (p.Val57Glu)
c.164T>A (p.Val55Glu)
c.77T>A (p.Val26Glu)
n.622T>A
11g.113932291T>CCA382668583HTR3Bc.371T>C (p.Val124Ala)
c.338T>C (p.Val113Ala)
c.157T>C
c.170T>C (p.Val57Ala)
c.164T>C (p.Val55Ala)
c.77T>C (p.Val26Ala)
n.622T>C
11g.113932291T>GCA382668587HTR3Bc.371T>G (p.Val124Gly)
c.338T>G (p.Val113Gly)
c.157T>G
c.170T>G (p.Val57Gly)
c.164T>G (p.Val55Gly)
c.77T>G (p.Val26Gly)
n.622T>G
11g.113932292G>ACA476831025HTR3Bc.372G>A (p.Val124=)
c.339G>A (p.Val113=)
c.158G>A
c.171G>A (p.Val57=)
c.165G>A (p.Val55=)
c.78G>A (p.Val26=)
n.623G>A
11g.113932292G>CCA476831027HTR3Bc.372G>C (p.Val124=)
c.339G>C (p.Val113=)
c.158G>C
c.171G>C (p.Val57=)
c.165G>C (p.Val55=)
c.78G>C (p.Val26=)
n.623G>C
11g.113932292G>TCA476831032HTR3Bc.372G>T (p.Val124=)
c.339G>T (p.Val113=)
c.158G>T
c.171G>T (p.Val57=)
c.165G>T (p.Val55=)
c.78G>T (p.Val26=)
n.623G>T
11g.113932293G>ACA6284037HTR3Bc.373G>A (p.Asp125Asn)
c.340G>A (p.Asp114Asn)
c.159G>A
c.172G>A (p.Asp58Asn)
c.166G>A (p.Asp56Asn)
c.79G>A (p.Asp27Asn)
n.624G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113932293G>CCA382668590HTR3Bc.373G>C (p.Asp125His)
c.340G>C (p.Asp114His)
c.159G>C
c.172G>C (p.Asp58His)
c.166G>C (p.Asp56His)
c.79G>C (p.Asp27His)
n.624G>C
11g.113932293G=CA2001397911HTR3Bc.373G= (p.Asp125=)
c.340G= (p.Asp114=)
c.159G=
c.172G= (p.Asp58=)
c.166G= (p.Asp56=)
c.79G= (p.Asp27=)
n.624G=
11g.113932293G>TCA382668592HTR3Bc.373G>T (p.Asp125Tyr)
c.340G>T (p.Asp114Tyr)
c.159G>T
c.172G>T (p.Asp58Tyr)
c.166G>T (p.Asp56Tyr)
c.79G>T (p.Asp27Tyr)
n.624G>T
11g.113932294A=CA2001397912HTR3Bc.374A= (p.Asp125=)
c.341A= (p.Asp114=)
c.160A=
c.173A= (p.Asp58=)
c.167A= (p.Asp56=)
c.80A= (p.Asp27=)
n.625A=
11g.113932294A>CCA382668594HTR3Bc.374A>C (p.Asp125Ala)
c.341A>C (p.Asp114Ala)
c.160A>C
c.173A>C (p.Asp58Ala)
c.167A>C (p.Asp56Ala)
c.80A>C (p.Asp27Ala)
n.625A>C
11g.113932294A>GCA382668597HTR3Bc.374A>G (p.Asp125Gly)
c.341A>G (p.Asp114Gly)
c.160A>G
c.173A>G (p.Asp58Gly)
c.167A>G (p.Asp56Gly)
c.80A>G (p.Asp27Gly)
n.625A>G
dbSNP gnomAD v4
11g.113932294A>TCA382668601HTR3Bc.374A>T (p.Asp125Val)
c.341A>T (p.Asp114Val)
c.160A>T
c.173A>T (p.Asp58Val)
c.167A>T (p.Asp56Val)
c.80A>T (p.Asp27Val)
n.625A>T
11g.113932295C>ACA382668603HTR3Bc.375C>A (p.Asp125Glu)
c.342C>A (p.Asp114Glu)
c.161C>A
c.174C>A (p.Asp58Glu)
c.168C>A (p.Asp56Glu)
c.81C>A (p.Asp27Glu)
n.626C>A
dbSNP
11g.113932295C>GCA382668605HTR3Bc.375C>G (p.Asp125Glu)
c.342C>G (p.Asp114Glu)
c.161C>G
c.174C>G (p.Asp58Glu)
c.168C>G (p.Asp56Glu)
c.81C>G (p.Asp27Glu)
n.626C>G
11g.113932295C>TCA476831043HTR3Bc.375C>T (p.Asp125=)
c.342C>T (p.Asp114=)
c.161C>T
c.174C>T (p.Asp58=)
c.168C>T (p.Asp56=)
c.81C>T (p.Asp27=)
n.626C>T
gnomAD v4
11g.113932296A>CCA382668611HTR3Bc.376A>C (p.Ile126Leu)
c.343A>C (p.Ile115Leu)
c.162A>C
c.175A>C (p.Ile59Leu)
c.169A>C (p.Ile57Leu)
c.82A>C (p.Ile28Leu)
n.627A>C
11g.113932296A>GCA382668610HTR3Bc.376A>G (p.Ile126Val)
c.343A>G (p.Ile115Val)
c.162A>G
c.175A>G (p.Ile59Val)
c.169A>G (p.Ile57Val)
c.82A>G (p.Ile28Val)
n.627A>G
COSMIC COSMIC
11g.113932296A>TCA382668609HTR3Bc.376A>T (p.Ile126Phe)
c.343A>T (p.Ile115Phe)
c.162A>T
c.175A>T (p.Ile59Phe)
c.169A>T (p.Ile57Phe)
c.82A>T (p.Ile28Phe)
n.627A>T
11g.113932297T>ACA382668615HTR3Bc.377T>A (p.Ile126Asn)
c.344T>A (p.Ile115Asn)
c.163T>A
c.176T>A (p.Ile59Asn)
c.170T>A (p.Ile57Asn)
c.83T>A (p.Ile28Asn)
n.628T>A
11g.113932297T>CCA382668612HTR3Bc.377T>C (p.Ile126Thr)
c.344T>C (p.Ile115Thr)
c.163T>C
c.176T>C (p.Ile59Thr)
c.170T>C (p.Ile57Thr)
c.83T>C (p.Ile28Thr)
n.628T>C
dbSNP gnomAD v3 gnomAD v4
11g.113932297T>GCA382668613HTR3Bc.377T>G (p.Ile126Ser)
c.344T>G (p.Ile115Ser)
c.163T>G
c.176T>G (p.Ile59Ser)
c.170T>G (p.Ile57Ser)
c.83T>G (p.Ile28Ser)
n.628T>G
11g.113932297T=CA2001397913HTR3Bc.377T= (p.Ile126=)
c.344T= (p.Ile115=)
c.163T=
c.176T= (p.Ile59=)
c.170T= (p.Ile57=)
c.83T= (p.Ile28=)
n.628T=
11g.113932298T>ACA476831051HTR3Bc.378T>A (p.Ile126=)
c.345T>A (p.Ile115=)
c.164T>A
c.177T>A (p.Ile59=)
c.171T>A (p.Ile57=)
c.84T>A (p.Ile28=)
n.629T>A
11g.113932298T>CCA476831052HTR3Bc.378T>C (p.Ile126=)
c.345T>C (p.Ile115=)
c.164T>C
c.177T>C (p.Ile59=)
c.171T>C (p.Ile57=)
c.84T>C (p.Ile28=)
n.629T>C
gnomAD v4
11g.113932298T>GCA382668617HTR3Bc.378T>G (p.Ile126Met)
c.345T>G (p.Ile115Met)
c.164T>G
c.177T>G (p.Ile59Met)
c.171T>G (p.Ile57Met)
c.84T>G (p.Ile28Met)
n.629T>G
11g.113932299G>ACA382668618HTR3Bc.379G>A (p.Glu127Lys)
c.346G>A (p.Glu116Lys)
c.165G>A
c.178G>A (p.Glu60Lys)
c.172G>A (p.Glu58Lys)
c.85G>A (p.Glu29Lys)
n.630G>A
gnomAD v4
11g.113932299G>CCA382668619HTR3Bc.379G>C (p.Glu127Gln)
c.346G>C (p.Glu116Gln)
c.165G>C
c.178G>C (p.Glu60Gln)
c.172G>C (p.Glu58Gln)
c.85G>C (p.Glu29Gln)
n.630G>C
11g.113932299G>TCA382668620HTR3Bc.379G>T (p.Glu127Ter)
c.346G>T (p.Glu116Ter)
c.165G>T
c.178G>T (p.Glu60Ter)
c.172G>T (p.Glu58Ter)
c.85G>T (p.Glu29Ter)
n.630G>T
11g.113932300A>CCA382668622HTR3Bc.380A>C (p.Glu127Ala)
c.347A>C (p.Glu116Ala)
c.166A>C
c.179A>C (p.Glu60Ala)
c.173A>C (p.Glu58Ala)
c.86A>C (p.Glu29Ala)
n.631A>C
11g.113932300A>GCA382668624HTR3Bc.380A>G (p.Glu127Gly)
c.347A>G (p.Glu116Gly)
c.166A>G
c.179A>G (p.Glu60Gly)
c.173A>G (p.Glu58Gly)
c.86A>G (p.Glu29Gly)
n.631A>G
11g.113932300A>TCA382668625HTR3Bc.380A>T (p.Glu127Val)
c.347A>T (p.Glu116Val)
c.166A>T
c.179A>T (p.Glu60Val)
c.173A>T (p.Glu58Val)
c.86A>T (p.Glu29Val)
n.631A>T
11g.113932301A>CCA382668627HTR3Bc.381A>C (p.Glu127Asp)
c.348A>C (p.Glu116Asp)
c.167A>C
c.180A>C (p.Glu60Asp)
c.174A>C (p.Glu58Asp)
c.87A>C (p.Glu29Asp)
n.632A>C
11g.113932301A>GCA476831061HTR3Bc.381A>G (p.Glu127=)
c.348A>G (p.Glu116=)
c.167A>G
c.180A>G (p.Glu60=)
c.174A>G (p.Glu58=)
c.87A>G (p.Glu29=)
n.632A>G
11g.113932301A>TCA382668630HTR3Bc.381A>T (p.Glu127Asp)
c.348A>T (p.Glu116Asp)
c.167A>T
c.180A>T (p.Glu60Asp)
c.174A>T (p.Glu58Asp)
c.87A>T (p.Glu29Asp)
n.632A>T
11g.113932302A>CCA476831064HTR3Bc.382A>C (p.Arg128=)
c.349A>C (p.Arg117=)
c.168A>C
c.181A>C (p.Arg61=)
c.175A>C (p.Arg59=)
c.88A>C (p.Arg30=)
n.633A>C
11g.113932302A>GCA382668632HTR3Bc.382A>G (p.Arg128Gly)
c.349A>G (p.Arg117Gly)
c.168A>G
c.181A>G (p.Arg61Gly)
c.175A>G (p.Arg59Gly)
c.88A>G (p.Arg30Gly)
n.633A>G
11g.113932302A>TCA382668635HTR3Bc.382A>T (p.Arg128Ter)
c.349A>T (p.Arg117Ter)
c.168A>T
c.181A>T (p.Arg61Ter)
c.175A>T (p.Arg59Ter)
c.88A>T (p.Arg30Ter)
n.633A>T
11g.113932303G>ACA382668646HTR3Bc.383G>A (p.Arg128Lys)
c.350G>A (p.Arg117Lys)
c.169G>A
c.182G>A (p.Arg61Lys)
c.176G>A (p.Arg59Lys)
c.89G>A (p.Arg30Lys)
n.634G>A
11g.113932303G>CCA6284038HTR3Bc.383G>C (p.Arg128Thr)
c.350G>C (p.Arg117Thr)
c.169G>C
c.182G>C (p.Arg61Thr)
c.176G>C (p.Arg59Thr)
c.89G>C (p.Arg30Thr)
n.634G>C
dbSNP ExAC gnomAD v2 gnomAD v4
11g.113932303G=CA2001397914HTR3Bc.383G= (p.Arg128=)
c.350G= (p.Arg117=)
c.169G=
c.182G= (p.Arg61=)
c.176G= (p.Arg59=)
c.89G= (p.Arg30=)
n.634G=
11g.113932303G>TCA382668644HTR3Bc.383G>T (p.Arg128Ile)
c.350G>T (p.Arg117Ile)
c.169G>T
c.182G>T (p.Arg61Ile)
c.176G>T (p.Arg59Ile)
c.89G>T (p.Arg30Ile)
n.634G>T
11g.113932304A=CA2001397915HTR3Bc.384A= (p.Arg128=)
c.351A= (p.Arg117=)
c.170A=
c.183A= (p.Arg61=)
c.177A= (p.Arg59=)
c.90A= (p.Arg30=)
n.635A=
11g.113932304A>CCA382668649HTR3Bc.384A>C (p.Arg128Ser)
c.351A>C (p.Arg117Ser)
c.170A>C
c.183A>C (p.Arg61Ser)
c.177A>C (p.Arg59Ser)
c.90A>C (p.Arg30Ser)
n.635A>C
11g.113932304A>GCA476831071HTR3Bc.384A>G (p.Arg128=)
c.351A>G (p.Arg117=)
c.170A>G
c.183A>G (p.Arg61=)
c.177A>G (p.Arg59=)
c.90A>G (p.Arg30=)
n.635A>G
dbSNP gnomAD v4
11g.113932304A>TCA382668652HTR3Bc.384A>T (p.Arg128Ser)
c.351A>T (p.Arg117Ser)
c.170A>T
c.183A>T (p.Arg61Ser)
c.177A>T (p.Arg59Ser)
c.90A>T (p.Arg30Ser)
n.635A>T
11g.113932305T>ACA382668664HTR3Bc.385T>A (p.Tyr129Asn)
c.352T>A (p.Tyr118Asn)
c.171T>A
c.184T>A (p.Tyr62Asn)
c.178T>A (p.Tyr60Asn)
c.91T>A (p.Tyr31Asn)
n.636T>A
11g.113932305T>CCA382668669HTR3Bc.385T>C (p.Tyr129His)
c.352T>C (p.Tyr118His)
c.171T>C
c.184T>C (p.Tyr62His)
c.178T>C (p.Tyr60His)
c.91T>C (p.Tyr31His)
n.636T>C
dbSNP gnomAD v4
11g.113932305T>GCA382668671HTR3Bc.385T>G (p.Tyr129Asp)
c.352T>G (p.Tyr118Asp)
c.171T>G
c.184T>G (p.Tyr62Asp)
c.178T>G (p.Tyr60Asp)
c.91T>G (p.Tyr31Asp)
n.636T>G
11g.113932305T=CA2001397916HTR3Bc.385T= (p.Tyr129=)
c.352T= (p.Tyr118=)
c.171T=
c.184T= (p.Tyr62=)
c.178T= (p.Tyr60=)
c.91T= (p.Tyr31=)
n.636T=
11g.113932305dupCA2616054431HTR3Bc.385dup (p.Tyr129LeufsTer3)
c.352dup (p.Tyr118LeufsTer3)
c.171dup
c.184dup (p.Tyr62LeufsTer3)
c.178dup (p.Tyr60LeufsTer3)
c.91dup (p.Tyr31LeufsTer3)
n.636dup
gnomAD v4
11g.113932306delCA2616054432HTR3Bc.386del (p.Tyr129SerfsTer9)
c.353del (p.Tyr118SerfsTer9)
c.172del
c.185del (p.Tyr62SerfsTer9)
c.179del (p.Tyr60SerfsTer9)
c.92del (p.Tyr31SerfsTer9)
n.637del
gnomAD v4
11g.113932306A=CA2001397917HTR3Bc.386A= (p.Tyr129=)
c.353A= (p.Tyr118=)
c.172A=
c.185A= (p.Tyr62=)
c.179A= (p.Tyr60=)
c.92A= (p.Tyr31=)
n.637A=
11g.113932306A>CCA6284039HTR3Bc.386A>C (p.Tyr129Ser)
c.353A>C (p.Tyr118Ser)
c.172A>C
c.185A>C (p.Tyr62Ser)
c.179A>C (p.Tyr60Ser)
c.92A>C (p.Tyr31Ser)
n.637A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113932306A>GCA382668675HTR3Bc.386A>G (p.Tyr129Cys)
c.353A>G (p.Tyr118Cys)
c.172A>G
c.185A>G (p.Tyr62Cys)
c.179A>G (p.Tyr60Cys)
c.92A>G (p.Tyr31Cys)
n.637A>G
11g.113932306A>TCA382668678HTR3Bc.386A>T (p.Tyr129Phe)
c.353A>T (p.Tyr118Phe)
c.172A>T
c.185A>T (p.Tyr62Phe)
c.179A>T (p.Tyr60Phe)
c.92A>T (p.Tyr31Phe)
n.637A>T
gnomAD v4
11g.113932307C>ACA382668680HTR3Bc.387C>A (p.Tyr129Ter)
c.354C>A (p.Tyr118Ter)
c.173C>A
c.186C>A (p.Tyr62Ter)
c.180C>A (p.Tyr60Ter)
c.93C>A (p.Tyr31Ter)
n.638C>A
11g.113932307C>GCA382668682HTR3Bc.387C>G (p.Tyr129Ter)
c.354C>G (p.Tyr118Ter)
c.173C>G
c.186C>G (p.Tyr62Ter)
c.180C>G (p.Tyr60Ter)
c.93C>G (p.Tyr31Ter)
n.638C>G
11g.113932307C>TCA476831088HTR3Bc.387C>T (p.Tyr129=)
c.354C>T (p.Tyr118=)
c.173C>T
c.186C>T (p.Tyr62=)
c.180C>T (p.Tyr60=)
c.93C>T (p.Tyr31=)
n.638C>T
11g.113932308C>ACA382668684HTR3Bc.388C>A (p.Pro130Thr)
c.355C>A (p.Pro119Thr)
c.174C>A
c.187C>A (p.Pro63Thr)
c.181C>A (p.Pro61Thr)
c.94C>A (p.Pro32Thr)
n.639C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.113932308C=CA2001397918HTR3Bc.388C= (p.Pro130=)
c.355C= (p.Pro119=)
c.174C=
c.187C= (p.Pro63=)
c.181C= (p.Pro61=)
c.94C= (p.Pro32=)
n.639C=
11g.113932308C>GCA382668686HTR3Bc.388C>G (p.Pro130Ala)
c.355C>G (p.Pro119Ala)
c.174C>G
c.187C>G (p.Pro63Ala)
c.181C>G (p.Pro61Ala)
c.94C>G (p.Pro32Ala)
n.639C>G
dbSNP
11g.113932308C>TCA382668689HTR3Bc.388C>T (p.Pro130Ser)
c.355C>T (p.Pro119Ser)
c.174C>T
c.187C>T (p.Pro63Ser)
c.181C>T (p.Pro61Ser)
c.94C>T (p.Pro32Ser)
n.639C>T
COSMIC
11g.113932309C>ACA382668694HTR3Bc.389C>A (p.Pro130His)
c.356C>A (p.Pro119His)
c.175C>A
c.188C>A (p.Pro63His)
c.182C>A (p.Pro61His)
c.95C>A (p.Pro32His)
n.640C>A
11g.113932309C=CA2001397919HTR3Bc.389C= (p.Pro130=)
c.356C= (p.Pro119=)
c.175C=
c.188C= (p.Pro63=)
c.182C= (p.Pro61=)
c.95C= (p.Pro32=)
n.640C=
11g.113932309C>GCA382668697HTR3Bc.389C>G (p.Pro130Arg)
c.356C>G (p.Pro119Arg)
c.175C>G
c.188C>G (p.Pro63Arg)
c.182C>G (p.Pro61Arg)
c.95C>G (p.Pro32Arg)
n.640C>G
dbSNP gnomAD v2 gnomAD v4
11g.113932309C>TCA382668691HTR3Bc.389C>T (p.Pro130Leu)
c.356C>T (p.Pro119Leu)
c.175C>T
c.188C>T (p.Pro63Leu)
c.182C>T (p.Pro61Leu)
c.95C>T (p.Pro32Leu)
n.640C>T
11g.113932310T>ACA476831099HTR3Bc.390T>A (p.Pro130=)
c.357T>A (p.Pro119=)
c.176T>A
c.189T>A (p.Pro63=)
c.183T>A (p.Pro61=)
c.96T>A (p.Pro32=)
n.641T>A
11g.113932310T>CCA476831101HTR3Bc.390T>C (p.Pro130=)
c.357T>C (p.Pro119=)
c.176T>C
c.189T>C (p.Pro63=)
c.183T>C (p.Pro61=)
c.96T>C (p.Pro32=)
n.641T>C
COSMIC
11g.113932310T>GCA476831103HTR3Bc.390T>G (p.Pro130=)
c.357T>G (p.Pro119=)
c.176T>G
c.189T>G (p.Pro63=)
c.183T>G (p.Pro61=)
c.96T>G (p.Pro32=)
n.641T>G
11g.113932311G>ACA382668701HTR3Bc.391G>A (p.Asp131Asn)
c.358G>A (p.Asp120Asn)
c.177G>A
c.190G>A (p.Asp64Asn)
c.184G>A (p.Asp62Asn)
c.97G>A (p.Asp33Asn)
n.642G>A
11g.113932311G>CCA382668710HTR3Bc.391G>C (p.Asp131His)
c.358G>C (p.Asp120His)
c.177G>C
c.190G>C (p.Asp64His)
c.184G>C (p.Asp62His)
c.97G>C (p.Asp33His)
n.642G>C
11g.113932311G>TCA382668707HTR3Bc.391G>T (p.Asp131Tyr)
c.358G>T (p.Asp120Tyr)
c.177G>T
c.190G>T (p.Asp64Tyr)
c.184G>T (p.Asp62Tyr)
c.97G>T (p.Asp33Tyr)
n.642G>T
11g.113932312A=CA2001397920HTR3Bc.392A= (p.Asp131=)
c.359A= (p.Asp120=)
c.178A=
c.191A= (p.Asp64=)
c.185A= (p.Asp62=)
c.98A= (p.Asp33=)
n.643A=
11g.113932312A>CCA382668712HTR3Bc.392A>C (p.Asp131Ala)
c.359A>C (p.Asp120Ala)
c.178A>C
c.191A>C (p.Asp64Ala)
c.185A>C (p.Asp62Ala)
c.98A>C (p.Asp33Ala)
n.643A>C
11g.113932312A>GCA6284040HTR3Bc.392A>G (p.Asp131Gly)
c.359A>G (p.Asp120Gly)
c.178A>G
c.191A>G (p.Asp64Gly)
c.185A>G (p.Asp62Gly)
c.98A>G (p.Asp33Gly)
n.643A>G
dbSNP ExAC gnomAD v2 gnomAD v4
11g.113932312A>TCA382668718HTR3Bc.392A>T (p.Asp131Val)
c.359A>T (p.Asp120Val)
c.178A>T
c.191A>T (p.Asp64Val)
c.185A>T (p.Asp62Val)
c.98A>T (p.Asp33Val)
n.643A>T
11g.113932313C>ACA382668720HTR3Bc.393C>A (p.Asp131Glu)
c.360C>A (p.Asp120Glu)
c.179C>A
c.192C>A (p.Asp64Glu)
c.186C>A (p.Asp62Glu)
c.99C>A (p.Asp33Glu)
n.644C>A
dbSNP gnomAD v2 gnomAD v4
11g.113932313C=CA2001397921HTR3Bc.393C= (p.Asp131=)
c.360C= (p.Asp120=)
c.179C=
c.192C= (p.Asp64=)
c.186C= (p.Asp62=)
c.99C= (p.Asp33=)
n.644C=
11g.113932313C>GCA382668722HTR3Bc.393C>G (p.Asp131Glu)
c.360C>G (p.Asp120Glu)
c.179C>G
c.192C>G (p.Asp64Glu)
c.186C>G (p.Asp62Glu)
c.99C>G (p.Asp33Glu)
n.644C>G
11g.113932313C>TCA476831115HTR3Bc.393C>T (p.Asp131=)
c.360C>T (p.Asp120=)
c.179C>T
c.192C>T (p.Asp64=)
c.186C>T (p.Asp62=)
c.99C>T (p.Asp33=)
n.644C>T
11g.113932314C>ACA382668723HTR3Bc.394C>A (p.Leu132Ile)
c.361C>A (p.Leu121Ile)
c.180C>A
c.193C>A (p.Leu65Ile)
c.187C>A (p.Leu63Ile)
c.100C>A (p.Leu34Ile)
n.645C>A
dbSNP
11g.113932314C=CA2001397922HTR3Bc.394C= (p.Leu132=)
c.361C= (p.Leu121=)
c.180C=
c.193C= (p.Leu65=)
c.187C= (p.Leu63=)
c.100C= (p.Leu34=)
n.645C=
11g.113932314C>GCA382668725HTR3Bc.394C>G (p.Leu132Val)
c.361C>G (p.Leu121Val)
c.180C>G
c.193C>G (p.Leu65Val)
c.187C>G (p.Leu63Val)
c.100C>G (p.Leu34Val)
n.645C>G
11g.113932314C>TCA382668727HTR3Bc.394C>T (p.Leu132Phe)
c.361C>T (p.Leu121Phe)
c.180C>T
c.193C>T (p.Leu65Phe)
c.187C>T (p.Leu63Phe)
c.100C>T (p.Leu34Phe)
n.645C>T
11g.113932315T>ACA382668729HTR3Bc.395T>A (p.Leu132His)
c.362T>A (p.Leu121His)
c.181T>A
c.194T>A (p.Leu65His)
c.188T>A (p.Leu63His)
c.101T>A (p.Leu34His)
n.646T>A
11g.113932315T>CCA382668731HTR3Bc.395T>C (p.Leu132Pro)
c.362T>C (p.Leu121Pro)
c.181T>C
c.194T>C (p.Leu65Pro)
c.188T>C (p.Leu63Pro)
c.101T>C (p.Leu34Pro)
n.646T>C
11g.113932315T>GCA382668732HTR3Bc.395T>G (p.Leu132Arg)
c.362T>G (p.Leu121Arg)
c.181T>G
c.194T>G (p.Leu65Arg)
c.188T>G (p.Leu63Arg)
c.101T>G (p.Leu34Arg)
n.646T>G
11g.113932316T>ACA476831126HTR3Bc.396T>A (p.Leu132=)
c.363T>A (p.Leu121=)
c.182T>A
c.195T>A (p.Leu65=)
c.189T>A (p.Leu63=)
c.102T>A (p.Leu34=)
n.647T>A
11g.113932316T>CCA476831128HTR3Bc.396T>C (p.Leu132=)
c.363T>C (p.Leu121=)
c.182T>C
c.195T>C (p.Leu65=)
c.189T>C (p.Leu63=)
c.102T>C (p.Leu34=)
n.647T>C
11g.113932316T>GCA476831129HTR3Bc.396T>G (p.Leu132=)
c.363T>G (p.Leu121=)
c.182T>G
c.195T>G (p.Leu65=)
c.189T>G (p.Leu63=)
c.102T>G (p.Leu34=)
n.647T>G
11g.113932317C>ACA382668742HTR3Bc.397C>A (p.Pro133Thr)
c.364C>A (p.Pro122Thr)
c.183C>A
c.196C>A (p.Pro66Thr)
c.190C>A (p.Pro64Thr)
c.103C>A (p.Pro35Thr)
n.648C>A
gnomAD v4
11g.113932317C=CA2001397923HTR3Bc.397C= (p.Pro133=)
c.364C= (p.Pro122=)
c.183C=
c.196C= (p.Pro66=)
c.190C= (p.Pro64=)
c.103C= (p.Pro35=)
n.648C=
11g.113932317C>GCA382668740HTR3Bc.397C>G (p.Pro133Ala)
c.364C>G (p.Pro122Ala)
c.183C>G
c.196C>G (p.Pro66Ala)
c.190C>G (p.Pro64Ala)
c.103C>G (p.Pro35Ala)
n.648C>G
11g.113932317C>TCA382668735HTR3Bc.397C>T (p.Pro133Ser)
c.364C>T (p.Pro122Ser)
c.183C>T
c.196C>T (p.Pro66Ser)
c.190C>T (p.Pro64Ser)
c.103C>T (p.Pro35Ser)
n.648C>T
dbSNP gnomAD v2 gnomAD v4
11g.113932318C>ACA382668745HTR3Bc.398C>A (p.Pro133His)
c.365C>A (p.Pro122His)
c.184C>A
c.197C>A (p.Pro66His)
c.191C>A (p.Pro64His)
c.104C>A (p.Pro35His)
n.649C>A
11g.113932318C=CA2001397924HTR3Bc.398C= (p.Pro133=)
c.365C= (p.Pro122=)
c.184C=
c.197C= (p.Pro66=)
c.191C= (p.Pro64=)
c.104C= (p.Pro35=)
n.649C=
11g.113932318C>GCA382668746HTR3Bc.398C>G (p.Pro133Arg)
c.365C>G (p.Pro122Arg)
c.184C>G
c.197C>G (p.Pro66Arg)
c.191C>G (p.Pro64Arg)
c.104C>G (p.Pro35Arg)
n.649C>G
11g.113932318C>TCA382668748HTR3Bc.398C>T (p.Pro133Leu)
c.365C>T (p.Pro122Leu)
c.184C>T
c.197C>T (p.Pro66Leu)
c.191C>T (p.Pro64Leu)
c.104C>T (p.Pro35Leu)
n.649C>T
dbSNP gnomAD v3 gnomAD v4
11g.113932319C>ACA476831138HTR3Bc.399C>A (p.Pro133=)
c.366C>A (p.Pro122=)
c.185C>A
c.198C>A (p.Pro66=)
c.192C>A (p.Pro64=)
c.105C>A (p.Pro35=)
n.650C>A
11g.113932319C=CA2001397925HTR3Bc.399C= (p.Pro133=)
c.366C= (p.Pro122=)
c.185C=
c.198C= (p.Pro66=)
c.192C= (p.Pro64=)
c.105C= (p.Pro35=)
n.650C=
11g.113932319C>GCA228667872HTR3Bc.399C>G (p.Pro133=)
c.366C>G (p.Pro122=)
c.185C>G
c.198C>G (p.Pro66=)
c.192C>G (p.Pro64=)
c.105C>G (p.Pro35=)
n.650C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.113932319C>TCA476831140HTR3Bc.399C>T (p.Pro133=)
c.366C>T (p.Pro122=)
c.185C>T
c.198C>T (p.Pro66=)
c.192C>T (p.Pro64=)
c.105C>T (p.Pro35=)
n.650C>T
11g.113932320T>ACA382668749HTR3Bc.400T>A (p.Tyr134Asn)
c.367T>A (p.Tyr123Asn)
c.186T>A
c.199T>A (p.Tyr67Asn)
c.193T>A (p.Tyr65Asn)
c.106T>A (p.Tyr36Asn)
n.651T>A
11g.113932320T>CCA6284041HTR3Bc.400T>C (p.Tyr134His)
c.367T>C (p.Tyr123His)
c.186T>C
c.199T>C (p.Tyr67His)
c.193T>C (p.Tyr65His)
c.106T>C (p.Tyr36His)
n.651T>C
dbSNP ExAC gnomAD v2 gnomAD v4
11g.113932320T>GCA382668755HTR3Bc.400T>G (p.Tyr134Asp)
c.367T>G (p.Tyr123Asp)
c.186T>G
c.199T>G (p.Tyr67Asp)
c.193T>G (p.Tyr65Asp)
c.106T>G (p.Tyr36Asp)
n.651T>G
11g.113932320T=CA2001397926HTR3Bc.400T= (p.Tyr134=)
c.367T= (p.Tyr123=)
c.186T=
c.199T= (p.Tyr67=)
c.193T= (p.Tyr65=)
c.106T= (p.Tyr36=)
n.651T=
11g.113932321A=CA2001397927HTR3Bc.401A= (p.Tyr134=)
c.368A= (p.Tyr123=)
c.187A=
c.200A= (p.Tyr67=)
c.194A= (p.Tyr65=)
c.107A= (p.Tyr36=)
n.652A=
11g.113932321A>CCA382668757HTR3Bc.401A>C (p.Tyr134Ser)
c.368A>C (p.Tyr123Ser)
c.187A>C
c.200A>C (p.Tyr67Ser)
c.194A>C (p.Tyr65Ser)
c.107A>C (p.Tyr36Ser)
n.652A>C
11g.113932321A>GCA228667892HTR3Bc.401A>G (p.Tyr134Cys)
c.368A>G (p.Tyr123Cys)
c.187A>G
c.200A>G (p.Tyr67Cys)
c.194A>G (p.Tyr65Cys)
c.107A>G (p.Tyr36Cys)
n.652A>G
dbSNP gnomAD v4
11g.113932321A>TCA382668760HTR3Bc.401A>T (p.Tyr134Phe)
c.368A>T (p.Tyr123Phe)
c.187A>T
c.200A>T (p.Tyr67Phe)
c.194A>T (p.Tyr65Phe)
c.107A>T (p.Tyr36Phe)
n.652A>T
11g.113932322T>ACA228667904HTR3Bc.402T>A (p.Tyr134Ter)
c.369T>A (p.Tyr123Ter)
c.188T>A
c.201T>A (p.Tyr67Ter)
c.195T>A (p.Tyr65Ter)
c.108T>A (p.Tyr36Ter)
n.653T>A
dbSNP
11g.113932322T>CCA476831155HTR3Bc.402T>C (p.Tyr134=)
c.369T>C (p.Tyr123=)
c.188T>C
c.201T>C (p.Tyr67=)
c.195T>C (p.Tyr65=)
c.108T>C (p.Tyr36=)
n.653T>C
11g.113932322T>GCA382668761HTR3Bc.402T>G (p.Tyr134Ter)
c.369T>G (p.Tyr123Ter)
c.188T>G
c.201T>G (p.Tyr67Ter)
c.195T>G (p.Tyr65Ter)
c.108T>G (p.Tyr36Ter)
n.653T>G
11g.113932322T=CA2001397928HTR3Bc.402T= (p.Tyr134=)
c.369T= (p.Tyr123=)
c.188T=
c.201T= (p.Tyr67=)
c.195T= (p.Tyr65=)
c.108T= (p.Tyr36=)
n.653T=
11g.113932323G>ACA382668766HTR3Bc.403G>A (p.Val135Ile)
c.370G>A (p.Val124Ile)
c.189G>A
c.202G>A (p.Val68Ile)
c.196G>A (p.Val66Ile)
c.109G>A (p.Val37Ile)
n.654G>A
dbSNP gnomAD v3 gnomAD v4
11g.113932323G>CCA382668765HTR3Bc.403G>C (p.Val135Leu)
c.370G>C (p.Val124Leu)
c.189G>C
c.202G>C (p.Val68Leu)
c.196G>C (p.Val66Leu)
c.109G>C (p.Val37Leu)
n.654G>C
11g.113932323G=CA2001397929HTR3Bc.403G= (p.Val135=)
c.370G= (p.Val124=)
c.189G=
c.202G= (p.Val68=)
c.196G= (p.Val66=)
c.109G= (p.Val37=)
n.654G=
11g.113932323G>TCA382668764HTR3Bc.403G>T (p.Val135Phe)
c.370G>T (p.Val124Phe)
c.189G>T
c.202G>T (p.Val68Phe)
c.196G>T (p.Val66Phe)
c.109G>T (p.Val37Phe)
n.654G>T
11g.113932324T>ACA382668767HTR3Bc.404T>A (p.Val135Asp)
c.371T>A (p.Val124Asp)
c.190T>A
c.203T>A (p.Val68Asp)
c.197T>A (p.Val66Asp)
c.110T>A (p.Val37Asp)
n.655T>A
11g.113932324T>CCA382668769HTR3Bc.404T>C (p.Val135Ala)
c.371T>C (p.Val124Ala)
c.190T>C
c.203T>C (p.Val68Ala)
c.197T>C (p.Val66Ala)
c.110T>C (p.Val37Ala)
n.655T>C
11g.113932324T>GCA382668770HTR3Bc.404T>G (p.Val135Gly)
c.371T>G (p.Val124Gly)
c.190T>G
c.203T>G (p.Val68Gly)
c.197T>G (p.Val66Gly)
c.110T>G (p.Val37Gly)
n.655T>G
11g.113932325T>ACA476831163HTR3Bc.405T>A (p.Val135=)
c.372T>A (p.Val124=)
c.191T>A
c.204T>A (p.Val68=)
c.198T>A (p.Val66=)
c.111T>A (p.Val37=)
n.656T>A
11g.113932325T>CCA476831165HTR3Bc.405T>C (p.Val135=)
c.372T>C (p.Val124=)
c.191T>C
c.204T>C (p.Val68=)
c.198T>C (p.Val66=)
c.111T>C (p.Val37=)
n.656T>C
11g.113932325T>GCA476831166HTR3Bc.405T>G (p.Val135=)
c.372T>G (p.Val124=)
c.191T>G
c.204T>G (p.Val68=)
c.198T>G (p.Val66=)
c.111T>G (p.Val37=)
n.656T>G
11g.113932326T>ACA382668771HTR3Bc.406T>A (p.Tyr136Asn)
c.373T>A (p.Tyr125Asn)
c.192T>A
c.205T>A (p.Tyr69Asn)
c.199T>A (p.Tyr67Asn)
c.112T>A (p.Tyr38Asn)
n.657T>A
11g.113932326T>CCA382668773HTR3Bc.406T>C (p.Tyr136His)
c.373T>C (p.Tyr125His)
c.192T>C
c.205T>C (p.Tyr69His)
c.199T>C (p.Tyr67His)
c.112T>C (p.Tyr38His)
n.657T>C
11g.113932326T>GCA382668775HTR3Bc.406T>G (p.Tyr136Asp)
c.373T>G (p.Tyr125Asp)
c.192T>G
c.205T>G (p.Tyr69Asp)
c.199T>G (p.Tyr67Asp)
c.112T>G (p.Tyr38Asp)
n.657T>G
11g.113932327A=CA2001397930HTR3Bc.407A= (p.Tyr136=)
c.374A= (p.Tyr125=)
c.193A=
c.206A= (p.Tyr69=)
c.200A= (p.Tyr67=)
c.113A= (p.Tyr38=)
n.658A=
11g.113932327A>CCA382668778HTR3Bc.407A>C (p.Tyr136Ser)
c.374A>C (p.Tyr125Ser)
c.193A>C
c.206A>C (p.Tyr69Ser)
c.200A>C (p.Tyr67Ser)
c.113A>C (p.Tyr38Ser)
n.658A>C
gnomAD v4
11g.113932327A>GCA382668776HTR3Bc.407A>G (p.Tyr136Cys)
c.374A>G (p.Tyr125Cys)
c.193A>G
c.206A>G (p.Tyr69Cys)
c.200A>G (p.Tyr67Cys)
c.113A>G (p.Tyr38Cys)
n.658A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.113932327A>TCA382668777HTR3Bc.407A>T (p.Tyr136Phe)
c.374A>T (p.Tyr125Phe)
c.193A>T
c.206A>T (p.Tyr69Phe)
c.200A>T (p.Tyr67Phe)
c.113A>T (p.Tyr38Phe)
n.658A>T
gnomAD v4
11g.113932328T>ACA382668779HTR3Bc.408T>A (p.Tyr136Ter)
c.375T>A (p.Tyr125Ter)
c.194T>A
c.207T>A (p.Tyr69Ter)
c.201T>A (p.Tyr67Ter)
c.114T>A (p.Tyr38Ter)
n.659T>A
11g.113932328T>CCA476831175HTR3Bc.408T>C (p.Tyr136=)
c.375T>C (p.Tyr125=)
c.194T>C
c.207T>C (p.Tyr69=)
c.201T>C (p.Tyr67=)
c.114T>C (p.Tyr38=)
n.659T>C
11g.113932328T>GCA382668780HTR3Bc.408T>G (p.Tyr136Ter)
c.375T>G (p.Tyr125Ter)
c.194T>G
c.207T>G (p.Tyr69Ter)
c.201T>G (p.Tyr67Ter)
c.114T>G (p.Tyr38Ter)
n.659T>G
11g.113932329G>ACA382668781HTR3Bc.409G>A (p.Val137Met)
c.376G>A (p.Val126Met)
c.195G>A
c.208G>A (p.Val70Met)
c.202G>A (p.Val68Met)
c.115G>A (p.Val39Met)
n.660G>A
dbSNP
11g.113932329G>CCA382668782HTR3Bc.409G>C (p.Val137Leu)
c.376G>C (p.Val126Leu)
c.195G>C
c.208G>C (p.Val70Leu)
c.202G>C (p.Val68Leu)
c.115G>C (p.Val39Leu)
n.660G>C
11g.113932329G=CA2001397931HTR3Bc.409G= (p.Val137=)
c.376G= (p.Val126=)
c.195G=
c.208G= (p.Val70=)
c.202G= (p.Val68=)
c.115G= (p.Val39=)
n.660G=
11g.113932329G>TCA382668783HTR3Bc.409G>T (p.Val137Leu)
c.376G>T (p.Val126Leu)
c.195G>T
c.208G>T (p.Val70Leu)
c.202G>T (p.Val68Leu)
c.115G>T (p.Val39Leu)
n.660G>T
11g.113932330T>ACA382668784HTR3Bc.410T>A (p.Val137Glu)
c.377T>A (p.Val126Glu)
c.196T>A
c.209T>A (p.Val70Glu)
c.203T>A (p.Val68Glu)
c.116T>A (p.Val39Glu)
n.661T>A
11g.113932330T>CCA382668786HTR3Bc.410T>C (p.Val137Ala)
c.377T>C (p.Val126Ala)
c.196T>C
c.209T>C (p.Val70Ala)
c.203T>C (p.Val68Ala)
c.116T>C (p.Val39Ala)
n.661T>C
11g.113932330T>GCA382668785HTR3Bc.410T>G (p.Val137Gly)
c.377T>G (p.Val126Gly)
c.196T>G
c.209T>G (p.Val70Gly)
c.203T>G (p.Val68Gly)
c.116T>G (p.Val39Gly)
n.661T>G
11g.113932331G>ACA476831184HTR3Bc.411G>A (p.Val137=)
c.378G>A (p.Val126=)
c.197G>A
c.210G>A (p.Val70=)
c.204G>A (p.Val68=)
c.117G>A (p.Val39=)
n.662G>A
dbSNP
11g.113932331G>CCA476831185HTR3Bc.411G>C (p.Val137=)
c.378G>C (p.Val126=)
c.197G>C
c.210G>C (p.Val70=)
c.204G>C (p.Val68=)
c.117G>C (p.Val39=)
n.662G>C
11g.113932331G=CA2001397932HTR3Bc.411G= (p.Val137=)
c.378G= (p.Val126=)
c.197G=
c.210G= (p.Val70=)
c.204G= (p.Val68=)
c.117G= (p.Val39=)
n.662G=
11g.113932331G>TCA476831187HTR3Bc.411G>T (p.Val137=)
c.378G>T (p.Val126=)
c.197G>T
c.210G>T (p.Val70=)
c.204G>T (p.Val68=)
c.117G>T (p.Val39=)
n.662G>T
11g.113932332A>CCA382668787HTR3Bc.412A>C (p.Asn138His)
c.379A>C (p.Asn127His)
c.198A>C
c.211A>C (p.Asn71His)
c.205A>C (p.Asn69His)
c.118A>C (p.Asn40His)
n.663A>C
11g.113932332A>GCA382668788HTR3Bc.412A>G (p.Asn138Asp)
c.379A>G (p.Asn127Asp)
c.198A>G
c.211A>G (p.Asn71Asp)
c.205A>G (p.Asn69Asp)
c.118A>G (p.Asn40Asp)
n.663A>G
11g.113932332A>TCA382668789HTR3Bc.412A>T (p.Asn138Tyr)
c.379A>T (p.Asn127Tyr)
c.198A>T
c.211A>T (p.Asn71Tyr)
c.205A>T (p.Asn69Tyr)
c.118A>T (p.Asn40Tyr)
n.663A>T
11g.113932333A>CCA382668790HTR3Bc.413A>C (p.Asn138Thr)
c.380A>C (p.Asn127Thr)
c.199A>C
c.212A>C (p.Asn71Thr)
c.206A>C (p.Asn69Thr)
c.119A>C (p.Asn40Thr)
n.664A>C
11g.113932333A>GCA382668791HTR3Bc.413A>G (p.Asn138Ser)
c.380A>G (p.Asn127Ser)
c.199A>G
c.212A>G (p.Asn71Ser)
c.206A>G (p.Asn69Ser)
c.119A>G (p.Asn40Ser)
n.664A>G
11g.113932333A>TCA382668792HTR3Bc.413A>T (p.Asn138Ile)
c.380A>T (p.Asn127Ile)
c.199A>T
c.212A>T (p.Asn71Ile)
c.206A>T (p.Asn69Ile)
c.119A>T (p.Asn40Ile)
n.664A>T
11g.113932334C>ACA382668793HTR3Bc.414C>A (p.Asn138Lys)
c.381C>A (p.Asn127Lys)
c.200C>A
c.213C>A (p.Asn71Lys)
c.207C>A (p.Asn69Lys)
c.120C>A (p.Asn40Lys)
n.665C>A
11g.113932334C>GCA382668794HTR3Bc.414C>G (p.Asn138Lys)
c.381C>G (p.Asn127Lys)
c.200C>G
c.213C>G (p.Asn71Lys)
c.207C>G (p.Asn69Lys)
c.120C>G (p.Asn40Lys)
n.665C>G
gnomAD v4
11g.113932334C>TCA476831197HTR3Bc.414C>T (p.Asn138=)
c.381C>T (p.Asn127=)
c.200C>T
c.213C>T (p.Asn71=)
c.207C>T (p.Asn69=)
c.120C>T (p.Asn40=)
n.665C>T
11g.113932335T>ACA382668795HTR3Bc.415T>A (p.Ser139Thr)
c.382T>A (p.Ser128Thr)
c.201T>A
c.214T>A (p.Ser72Thr)
c.208T>A (p.Ser70Thr)
c.121T>A (p.Ser41Thr)
n.666T>A
11g.113932335T>CCA382668796HTR3Bc.415T>C (p.Ser139Pro)
c.382T>C (p.Ser128Pro)
c.201T>C
c.214T>C (p.Ser72Pro)
c.208T>C (p.Ser70Pro)
c.121T>C (p.Ser41Pro)
n.666T>C
11g.113932335T>GCA382668797HTR3Bc.415T>G (p.Ser139Ala)
c.382T>G (p.Ser128Ala)
c.201T>G
c.214T>G (p.Ser72Ala)
c.208T>G (p.Ser70Ala)
c.121T>G (p.Ser41Ala)
n.666T>G
11g.113932336C>ACA382668799HTR3Bc.416C>A (p.Ser139Ter)
c.383C>A (p.Ser128Ter)
c.202C>A
c.215C>A (p.Ser72Ter)
c.209C>A (p.Ser70Ter)
c.122C>A (p.Ser41Ter)
n.667C>A
11g.113932336C=CA2001397933HTR3Bc.416C= (p.Ser139=)
c.383C= (p.Ser128=)
c.202C=
c.215C= (p.Ser72=)
c.209C= (p.Ser70=)
c.122C= (p.Ser41=)
n.667C=
11g.113932336C>GCA382668800HTR3Bc.416C>G (p.Ser139Ter)
c.383C>G (p.Ser128Ter)
c.202C>G
c.215C>G (p.Ser72Ter)
c.209C>G (p.Ser70Ter)
c.122C>G (p.Ser41Ter)
n.667C>G
11g.113932336C>TCA382668798HTR3Bc.416C>T (p.Ser139Leu)
c.383C>T (p.Ser128Leu)
c.202C>T
c.215C>T (p.Ser72Leu)
c.209C>T (p.Ser70Leu)
c.122C>T (p.Ser41Leu)
n.667C>T
dbSNP gnomAD v4
11g.113932337A>CCA476831203HTR3Bc.417A>C (p.Ser139=)
c.384A>C (p.Ser128=)
c.203A>C
c.216A>C (p.Ser72=)
c.210A>C (p.Ser70=)
c.123A>C (p.Ser41=)
n.668A>C
11g.113932337A>GCA476831205HTR3Bc.417A>G (p.Ser139=)
c.384A>G (p.Ser128=)
c.203A>G
c.216A>G (p.Ser72=)
c.210A>G (p.Ser70=)
c.123A>G (p.Ser41=)
n.668A>G
11g.113932337A>TCA476831207HTR3Bc.417A>T (p.Ser139=)
c.384A>T (p.Ser128=)
c.203A>T
c.216A>T (p.Ser72=)
c.210A>T (p.Ser70=)
c.123A>T (p.Ser41=)
n.668A>T
11g.113932338T>ACA382668801HTR3Bc.418T>A (p.Ser140Thr)
c.385T>A (p.Ser129Thr)
c.204T>A
c.217T>A (p.Ser73Thr)
c.211T>A (p.Ser71Thr)
c.124T>A (p.Ser42Thr)
n.669T>A
11g.113932338T>CCA382668802HTR3Bc.418T>C (p.Ser140Pro)
c.385T>C (p.Ser129Pro)
c.204T>C
c.217T>C (p.Ser73Pro)
c.211T>C (p.Ser71Pro)
c.124T>C (p.Ser42Pro)
n.669T>C
dbSNP gnomAD v3 gnomAD v4
11g.113932338T>GCA382668803HTR3Bc.418T>G (p.Ser140Ala)
c.385T>G (p.Ser129Ala)
c.204T>G
c.217T>G (p.Ser73Ala)
c.211T>G (p.Ser71Ala)
c.124T>G (p.Ser42Ala)
n.669T>G
gnomAD v4
11g.113932338T=CA2001397934HTR3Bc.418T= (p.Ser140=)
c.385T= (p.Ser129=)
c.204T=
c.217T= (p.Ser73=)
c.211T= (p.Ser71=)
c.124T= (p.Ser42=)
n.669T=
11g.113932339C>ACA382668804HTR3Bc.419C>A (p.Ser140Tyr)
c.386C>A (p.Ser129Tyr)
c.205C>A
c.218C>A (p.Ser73Tyr)
c.212C>A (p.Ser71Tyr)
c.125C>A (p.Ser42Tyr)
n.670C>A
11g.113932339C=CA2001397935HTR3Bc.419C= (p.Ser140=)
c.386C= (p.Ser129=)
c.205C=
c.218C= (p.Ser73=)
c.212C= (p.Ser71=)
c.125C= (p.Ser42=)
n.670C=
11g.113932339C>GCA382668805HTR3Bc.419C>G (p.Ser140Cys)
c.386C>G (p.Ser129Cys)
c.205C>G
c.218C>G (p.Ser73Cys)
c.212C>G (p.Ser71Cys)
c.125C>G (p.Ser42Cys)
n.670C>G
11g.113932339C>TCA382668806HTR3Bc.419C>T (p.Ser140Phe)
c.386C>T (p.Ser129Phe)
c.205C>T
c.218C>T (p.Ser73Phe)
c.212C>T (p.Ser71Phe)
c.125C>T (p.Ser42Phe)
n.670C>T
dbSNP
11g.113932340T>ACA476831214HTR3Bc.420T>A (p.Ser140=)
c.387T>A (p.Ser129=)
c.206T>A
c.219T>A (p.Ser73=)
c.213T>A (p.Ser71=)
c.126T>A (p.Ser42=)
n.671T>A
11g.113932340T>CCA476831215HTR3Bc.420T>C (p.Ser140=)
c.387T>C (p.Ser129=)
c.206T>C
c.219T>C (p.Ser73=)
c.213T>C (p.Ser71=)
c.126T>C (p.Ser42=)
n.671T>C
11g.113932340T>GCA476831217HTR3Bc.420T>G (p.Ser140=)
c.387T>G (p.Ser129=)
c.206T>G
c.219T>G (p.Ser73=)
c.213T>G (p.Ser71=)
c.126T>G (p.Ser42=)
n.671T>G
11g.113932341G>ACA382668807HTR3Bc.421G>A (p.Gly141Arg)
c.388G>A (p.Gly130Arg)
c.207G>A
c.220G>A (p.Gly74Arg)
c.214G>A (p.Gly72Arg)
c.127G>A (p.Gly43Arg)
n.672G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.113932341G>CCA382668808HTR3Bc.421G>C (p.Gly141Arg)
c.388G>C (p.Gly130Arg)
c.207G>C
c.220G>C (p.Gly74Arg)
c.214G>C (p.Gly72Arg)
c.127G>C (p.Gly43Arg)
n.672G>C
11g.113932341G=CA2001397936HTR3Bc.421G= (p.Gly141=)
c.388G= (p.Gly130=)
c.207G=
c.220G= (p.Gly74=)
c.214G= (p.Gly72=)
c.127G= (p.Gly43=)
n.672G=
11g.113932341G>TCA382668809HTR3Bc.421G>T (p.Gly141Trp)
c.388G>T (p.Gly130Trp)
c.207G>T
c.220G>T (p.Gly74Trp)
c.214G>T (p.Gly72Trp)
c.127G>T (p.Gly43Trp)
n.672G>T
11g.113932342G>ACA382668810HTR3Bc.422G>A (p.Gly141Glu)
c.389G>A (p.Gly130Glu)
c.208G>A
c.221G>A (p.Gly74Glu)
c.215G>A (p.Gly72Glu)
c.128G>A (p.Gly43Glu)
n.673G>A
dbSNP gnomAD v4
11g.113932342G>CCA382668811HTR3Bc.422G>C (p.Gly141Ala)
c.389G>C (p.Gly130Ala)
c.208G>C
c.221G>C (p.Gly74Ala)
c.215G>C (p.Gly72Ala)
c.128G>C (p.Gly43Ala)
n.673G>C
11g.113932342G=CA2001397937HTR3Bc.422G= (p.Gly141=)
c.389G= (p.Gly130=)
c.208G=
c.221G= (p.Gly74=)
c.215G= (p.Gly72=)
c.128G= (p.Gly43=)
n.673G=
11g.113932342G>TCA382668812HTR3Bc.422G>T (p.Gly141Val)
c.389G>T (p.Gly130Val)
c.208G>T
c.221G>T (p.Gly74Val)
c.215G>T (p.Gly72Val)
c.128G>T (p.Gly43Val)
n.673G>T
11g.113932343G>ACA6284042HTR3Bc.423G>A (p.Gly141=)
c.390G>A (p.Gly130=)
c.209G>A
c.222G>A (p.Gly74=)
c.216G>A (p.Gly72=)
c.129G>A (p.Gly43=)
n.674G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113932343G>CCA476831230HTR3Bc.423G>C (p.Gly141=)
c.390G>C (p.Gly130=)
c.209G>C
c.222G>C (p.Gly74=)
c.216G>C (p.Gly72=)
c.129G>C (p.Gly43=)
n.674G>C
11g.113932343G=CA2001397938HTR3Bc.423G= (p.Gly141=)
c.390G= (p.Gly130=)
c.209G=
c.222G= (p.Gly74=)
c.216G= (p.Gly72=)
c.129G= (p.Gly43=)
n.674G=
11g.113932343G>TCA476831228HTR3Bc.423G>T (p.Gly141=)
c.390G>T (p.Gly130=)
c.209G>T
c.222G>T (p.Gly74=)
c.216G>T (p.Gly72=)
c.129G>T (p.Gly43=)
n.674G>T
11g.113932344A>CCA382668815HTR3Bc.424A>C (p.Thr142Pro)
c.391A>C (p.Thr131Pro)
c.210A>C
c.223A>C (p.Thr75Pro)
c.217A>C (p.Thr73Pro)
c.130A>C (p.Thr44Pro)
n.675A>C
11g.113932344A>GCA382668814HTR3Bc.424A>G (p.Thr142Ala)
c.391A>G (p.Thr131Ala)
c.210A>G
c.223A>G (p.Thr75Ala)
c.217A>G (p.Thr73Ala)
c.130A>G (p.Thr44Ala)
n.675A>G
11g.113932344A>TCA382668813HTR3Bc.424A>T (p.Thr142Ser)
c.391A>T (p.Thr131Ser)
c.210A>T
c.223A>T (p.Thr75Ser)
c.217A>T (p.Thr73Ser)
c.130A>T (p.Thr44Ser)
n.675A>T
11g.113932345C>ACA382668816HTR3Bc.425C>A (p.Thr142Asn)
c.392C>A (p.Thr131Asn)
c.211C>A
c.224C>A (p.Thr75Asn)
c.218C>A (p.Thr73Asn)
c.131C>A (p.Thr44Asn)
n.676C>A
gnomAD v4
11g.113932345C=CA2001397939HTR3Bc.425C= (p.Thr142=)
c.392C= (p.Thr131=)
c.211C=
c.224C= (p.Thr75=)
c.218C= (p.Thr73=)
c.131C= (p.Thr44=)
n.676C=
11g.113932345C>GCA382668817HTR3Bc.425C>G (p.Thr142Ser)
c.392C>G (p.Thr131Ser)
c.211C>G
c.224C>G (p.Thr75Ser)
c.218C>G (p.Thr73Ser)
c.131C>G (p.Thr44Ser)
n.676C>G
dbSNP gnomAD v4
11g.113932345C>TCA382668818HTR3Bc.425C>T (p.Thr142Ile)
c.392C>T (p.Thr131Ile)
c.211C>T
c.224C>T (p.Thr75Ile)
c.218C>T (p.Thr73Ile)
c.131C>T (p.Thr44Ile)
n.676C>T
11g.113932346C>ACA476831240HTR3Bc.426C>A (p.Thr142=)
c.393C>A (p.Thr131=)
c.212C>A
c.225C>A (p.Thr75=)
c.219C>A (p.Thr73=)
c.132C>A (p.Thr44=)
n.677C>A
COSMIC
11g.113932346C=CA2001397940HTR3Bc.426C= (p.Thr142=)
c.393C= (p.Thr131=)
c.212C=
c.225C= (p.Thr75=)
c.219C= (p.Thr73=)
c.132C= (p.Thr44=)
n.677C=
11g.113932346C>GCA476831242HTR3Bc.426C>G (p.Thr142=)
c.393C>G (p.Thr131=)
c.212C>G
c.225C>G (p.Thr75=)
c.219C>G (p.Thr73=)
c.132C>G (p.Thr44=)
n.677C>G
11g.113932346C>TCA6284043HTR3Bc.426C>T (p.Thr142=)
c.393C>T (p.Thr131=)
c.212C>T
c.225C>T (p.Thr75=)
c.219C>T (p.Thr73=)
c.132C>T (p.Thr44=)
n.677C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113932347A>CCA382668819HTR3Bc.427A>C (p.Ile143Leu)
c.394A>C (p.Ile132Leu)
c.213A>C
c.226A>C (p.Ile76Leu)
c.220A>C (p.Ile74Leu)
c.133A>C (p.Ile45Leu)
n.678A>C
11g.113932347A>GCA382668820HTR3Bc.427A>G (p.Ile143Val)
c.394A>G (p.Ile132Val)
c.213A>G
c.226A>G (p.Ile76Val)
c.220A>G (p.Ile74Val)
c.133A>G (p.Ile45Val)
n.678A>G
gnomAD v4
11g.113932347A>TCA382668821HTR3Bc.427A>T (p.Ile143Phe)
c.394A>T (p.Ile132Phe)
c.213A>T
c.226A>T (p.Ile76Phe)
c.220A>T (p.Ile74Phe)
c.133A>T (p.Ile45Phe)
n.678A>T
11g.113932348T>ACA382668822HTR3Bc.428T>A (p.Ile143Asn)
c.395T>A (p.Ile132Asn)
c.214T>A
c.227T>A (p.Ile76Asn)
c.221T>A (p.Ile74Asn)
c.134T>A (p.Ile45Asn)
n.679T>A
11g.113932348T>CCA6284044HTR3Bc.428T>C (p.Ile143Thr)
c.395T>C (p.Ile132Thr)
c.214T>C
c.227T>C (p.Ile76Thr)
c.221T>C (p.Ile74Thr)
c.134T>C (p.Ile45Thr)
n.679T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113932348T>GCA382668823HTR3Bc.428T>G (p.Ile143Ser)
c.395T>G (p.Ile132Ser)
c.214T>G
c.227T>G (p.Ile76Ser)
c.221T>G (p.Ile74Ser)
c.134T>G (p.Ile45Ser)
n.679T>G
11g.113932348T=CA2001397941HTR3Bc.428T= (p.Ile143=)
c.395T= (p.Ile132=)
c.214T=
c.227T= (p.Ile76=)
c.221T= (p.Ile74=)
c.134T= (p.Ile45=)
n.679T=
11g.113932349T>ACA476831251HTR3Bc.429T>A (p.Ile143=)
c.396T>A (p.Ile132=)
c.215T>A
c.228T>A (p.Ile76=)
c.222T>A (p.Ile74=)
c.135T>A (p.Ile45=)
n.680T>A
11g.113932349T>CCA476831254HTR3Bc.429T>C (p.Ile143=)
c.396T>C (p.Ile132=)
c.215T>C
c.228T>C (p.Ile76=)
c.222T>C (p.Ile74=)
c.135T>C (p.Ile45=)
n.680T>C
gnomAD v4
11g.113932349T>GCA382668824HTR3Bc.429T>G (p.Ile143Met)
c.396T>G (p.Ile132Met)
c.215T>G
c.228T>G (p.Ile76Met)
c.222T>G (p.Ile74Met)
c.135T>G (p.Ile45Met)
n.680T>G
gnomAD v4
11g.113932350G>ACA382668825HTR3Bc.430G>A (p.Glu144Lys)
c.397G>A (p.Glu133Lys)
c.216G>A
c.229G>A (p.Glu77Lys)
c.223G>A (p.Glu75Lys)
c.136G>A (p.Glu46Lys)
n.681G>A
11g.113932350G>CCA382668826HTR3Bc.430G>C (p.Glu144Gln)
c.397G>C (p.Glu133Gln)
c.216G>C
c.229G>C (p.Glu77Gln)
c.223G>C (p.Glu75Gln)
c.136G>C (p.Glu46Gln)
n.681G>C
11g.113932350G>TCA382668827HTR3Bc.430G>T (p.Glu144Ter)
c.397G>T (p.Glu133Ter)
c.216G>T
c.229G>T (p.Glu77Ter)
c.223G>T (p.Glu75Ter)
c.136G>T (p.Glu46Ter)
n.681G>T
11g.113932351A>CCA382668830HTR3Bc.431A>C (p.Glu144Ala)
c.398A>C (p.Glu133Ala)
c.217A>C
c.230A>C (p.Glu77Ala)
c.224A>C (p.Glu75Ala)
c.137A>C (p.Glu46Ala)
n.682A>C
11g.113932351A>GCA382668829HTR3Bc.431A>G (p.Glu144Gly)
c.398A>G (p.Glu133Gly)
c.217A>G
c.230A>G (p.Glu77Gly)
c.224A>G (p.Glu75Gly)
c.137A>G (p.Glu46Gly)
n.682A>G
11g.113932351A>TCA382668828HTR3Bc.431A>T (p.Glu144Val)
c.398A>T (p.Glu133Val)
c.217A>T
c.230A>T (p.Glu77Val)
c.224A>T (p.Glu75Val)
c.137A>T (p.Glu46Val)
n.682A>T
11g.113932352G>ACA476831265HTR3Bc.432G>A (p.Glu144=)
c.399G>A (p.Glu133=)
c.218G>A
c.231G>A (p.Glu77=)
c.225G>A (p.Glu75=)
c.138G>A (p.Glu46=)
n.683G>A
11g.113932352G>CCA382668831HTR3Bc.432G>C (p.Glu144Asp)
c.399G>C (p.Glu133Asp)
c.218G>C
c.231G>C (p.Glu77Asp)
c.225G>C (p.Glu75Asp)
c.138G>C (p.Glu46Asp)
n.683G>C
11g.113932352G>TCA382668832HTR3Bc.432G>T (p.Glu144Asp)
c.399G>T (p.Glu133Asp)
c.218G>T
c.231G>T (p.Glu77Asp)
c.225G>T (p.Glu75Asp)
c.138G>T (p.Glu46Asp)
n.683G>T
11g.113932353A>CCA382668833HTR3Bc.433A>C (p.Asn145His)
c.400A>C (p.Asn134His)
c.219A>C
c.232A>C (p.Asn78His)
c.226A>C (p.Asn76His)
c.139A>C (p.Asn47His)
n.684A>C
11g.113932353A>GCA382668834HTR3Bc.433A>G (p.Asn145Asp)
c.400A>G (p.Asn134Asp)
c.219A>G
c.232A>G (p.Asn78Asp)
c.226A>G (p.Asn76Asp)
c.139A>G (p.Asn47Asp)
n.684A>G
11g.113932353A>TCA382668836HTR3Bc.433A>T (p.Asn145Tyr)
c.400A>T (p.Asn134Tyr)
c.219A>T
c.232A>T (p.Asn78Tyr)
c.226A>T (p.Asn76Tyr)
c.139A>T (p.Asn47Tyr)
n.684A>T
11g.113932354A>CCA382668840HTR3Bc.434A>C (p.Asn145Thr)
c.401A>C (p.Asn134Thr)
c.220A>C
c.233A>C (p.Asn78Thr)
c.227A>C (p.Asn76Thr)
c.140A>C (p.Asn47Thr)
n.685A>C
11g.113932354A>GCA382668839HTR3Bc.434A>G (p.Asn145Ser)
c.401A>G (p.Asn134Ser)
c.220A>G
c.233A>G (p.Asn78Ser)
c.227A>G (p.Asn76Ser)
c.140A>G (p.Asn47Ser)
n.685A>G
gnomAD v4
11g.113932354A>TCA382668838HTR3Bc.434A>T (p.Asn145Ile)
c.401A>T (p.Asn134Ile)
c.220A>T
c.233A>T (p.Asn78Ile)
c.227A>T (p.Asn76Ile)
c.140A>T (p.Asn47Ile)
n.685A>T
11g.113932355C>ACA382668841HTR3Bc.435C>A (p.Asn145Lys)
c.402C>A (p.Asn134Lys)
c.221C>A
c.234C>A (p.Asn78Lys)
c.228C>A (p.Asn76Lys)
c.141C>A (p.Asn47Lys)
n.686C>A
11g.113932355C=CA2001397942HTR3Bc.435C= (p.Asn145=)
c.402C= (p.Asn134=)
c.221C=
c.234C= (p.Asn78=)
c.228C= (p.Asn76=)
c.141C= (p.Asn47=)
n.686C=
11g.113932355C>GCA382668842HTR3Bc.435C>G (p.Asn145Lys)
c.402C>G (p.Asn134Lys)
c.221C>G
c.234C>G (p.Asn78Lys)
c.228C>G (p.Asn76Lys)
c.141C>G (p.Asn47Lys)
n.686C>G
11g.113932355C>TCA6284045HTR3Bc.435C>T (p.Asn145=)
c.402C>T (p.Asn134=)
c.221C>T
c.234C>T (p.Asn78=)
c.228C>T (p.Asn76=)
c.141C>T (p.Asn47=)
n.686C>T
dbSNP ExAC gnomAD v2 gnomAD v4
11g.113932356T>ACA382668844HTR3Bc.436T>A (p.Tyr146Asn)
c.403T>A (p.Tyr135Asn)
c.222T>A
c.235T>A (p.Tyr79Asn)
c.229T>A (p.Tyr77Asn)
c.142T>A (p.Tyr48Asn)
n.687T>A
11g.113932356T>CCA382668845HTR3Bc.436T>C (p.Tyr146His)
c.403T>C (p.Tyr135His)
c.222T>C
c.235T>C (p.Tyr79His)
c.229T>C (p.Tyr77His)
c.142T>C (p.Tyr48His)
n.687T>C
11g.113932356T>GCA382668847HTR3Bc.436T>G (p.Tyr146Asp)
c.403T>G (p.Tyr135Asp)
c.222T>G
c.235T>G (p.Tyr79Asp)
c.229T>G (p.Tyr77Asp)
c.142T>G (p.Tyr48Asp)
n.687T>G
11g.113932356_113932360delCA2616054433HTR3Bc.436_440del (p.Tyr146AlafsTer18)
c.403_407del (p.Tyr135AlafsTer18)
c.222_226del
c.235_239del (p.Tyr79AlafsTer18)
c.229_233del (p.Tyr77AlafsTer18)
c.142_146del (p.Tyr48AlafsTer18)
n.687_691del
gnomAD v4
11g.113932357A=CA2001397943HTR3Bc.437A= (p.Tyr146=)
c.404A= (p.Tyr135=)
c.223A=
c.236A= (p.Tyr79=)
c.230A= (p.Tyr77=)
c.143A= (p.Tyr48=)
n.688A=
11g.113932357A>CCA382668850HTR3Bc.437A>C (p.Tyr146Ser)
c.404A>C (p.Tyr135Ser)
c.223A>C
c.236A>C (p.Tyr79Ser)
c.230A>C (p.Tyr77Ser)
c.143A>C (p.Tyr48Ser)
n.688A>C
11g.113932357A>GCA382668848HTR3Bc.437A>G (p.Tyr146Cys)
c.404A>G (p.Tyr135Cys)
c.223A>G
c.236A>G (p.Tyr79Cys)
c.230A>G (p.Tyr77Cys)
c.143A>G (p.Tyr48Cys)
n.688A>G
dbSNP gnomAD v4
11g.113932357A>TCA382668849HTR3Bc.437A>T (p.Tyr146Phe)
c.404A>T (p.Tyr135Phe)
c.223A>T
c.236A>T (p.Tyr79Phe)
c.230A>T (p.Tyr77Phe)
c.143A>T (p.Tyr48Phe)
n.688A>T
11g.113932358T>ACA382668852HTR3Bc.438T>A (p.Tyr146Ter)
c.405T>A (p.Tyr135Ter)
c.224T>A
c.237T>A (p.Tyr79Ter)
c.231T>A (p.Tyr77Ter)
c.144T>A (p.Tyr48Ter)
n.689T>A
11g.113932358T>CCA476831282HTR3Bc.438T>C (p.Tyr146=)
c.405T>C (p.Tyr135=)
c.224T>C
c.237T>C (p.Tyr79=)
c.231T>C (p.Tyr77=)
c.144T>C (p.Tyr48=)
n.689T>C
dbSNP gnomAD v3 gnomAD v4
11g.113932358T>GCA382668853HTR3Bc.438T>G (p.Tyr146Ter)
c.405T>G (p.Tyr135Ter)
c.224T>G
c.237T>G (p.Tyr79Ter)
c.231T>G (p.Tyr77Ter)
c.144T>G (p.Tyr48Ter)
n.689T>G
11g.113932358T=CA2001397944HTR3Bc.438T= (p.Tyr146=)
c.405T= (p.Tyr135=)
c.224T=
c.237T= (p.Tyr79=)
c.231T= (p.Tyr77=)
c.144T= (p.Tyr48=)
n.689T=
11g.113932359A>CCA382668855HTR3Bc.439A>C (p.Lys147Gln)
c.406A>C (p.Lys136Gln)
c.225A>C
c.238A>C (p.Lys80Gln)
c.232A>C (p.Lys78Gln)
c.145A>C (p.Lys49Gln)
n.690A>C
11g.113932359A>GCA382668856HTR3Bc.439A>G (p.Lys147Glu)
c.406A>G (p.Lys136Glu)
c.225A>G
c.238A>G (p.Lys80Glu)
c.232A>G (p.Lys78Glu)
c.145A>G (p.Lys49Glu)
n.690A>G
11g.113932359A>TCA382668858HTR3Bc.439A>T (p.Lys147Ter)
c.406A>T (p.Lys136Ter)
c.225A>T
c.238A>T (p.Lys80Ter)
c.232A>T (p.Lys78Ter)
c.145A>T (p.Lys49Ter)
n.690A>T
11g.113932360A=CA2001397945HTR3Bc.440A= (p.Lys147=)
c.407A= (p.Lys136=)
c.226A=
c.239A= (p.Lys80=)
c.233A= (p.Lys78=)
c.146A= (p.Lys49=)
n.691A=
11g.113932360A>CCA382668860HTR3Bc.440A>C (p.Lys147Thr)
c.407A>C (p.Lys136Thr)
c.226A>C
c.239A>C (p.Lys80Thr)
c.233A>C (p.Lys78Thr)
c.146A>C (p.Lys49Thr)
n.691A>C
11g.113932360A>GCA6284046HTR3Bc.440A>G (p.Lys147Arg)
c.407A>G (p.Lys136Arg)
c.226A>G
c.239A>G (p.Lys80Arg)
c.233A>G (p.Lys78Arg)
c.146A>G (p.Lys49Arg)
n.691A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113932360A>TCA382668861HTR3Bc.440A>T (p.Lys147Met)
c.407A>T (p.Lys136Met)
c.226A>T
c.239A>T (p.Lys80Met)
c.233A>T (p.Lys78Met)
c.146A>T (p.Lys49Met)
n.691A>T
11g.113932361G>ACA476831292HTR3Bc.441G>A (p.Lys147=)
c.408G>A (p.Lys136=)
c.227G>A
c.240G>A (p.Lys80=)
c.234G>A (p.Lys78=)
c.147G>A (p.Lys49=)
n.692G>A
11g.113932361G>CCA382668863HTR3Bc.441G>C (p.Lys147Asn)
c.408G>C (p.Lys136Asn)
c.227G>C
c.240G>C (p.Lys80Asn)
c.234G>C (p.Lys78Asn)
c.147G>C (p.Lys49Asn)
n.692G>C
11g.113932361G>TCA382668864HTR3Bc.441G>T (p.Lys147Asn)
c.408G>T (p.Lys136Asn)
c.227G>T
c.240G>T (p.Lys80Asn)
c.234G>T (p.Lys78Asn)
c.147G>T (p.Lys49Asn)
n.692G>T
11g.113932362C>ACA382668865HTR3Bc.442C>A (p.Pro148Thr)
c.409C>A (p.Pro137Thr)
c.228C>A
c.241C>A (p.Pro81Thr)
c.235C>A (p.Pro79Thr)
c.148C>A (p.Pro50Thr)
n.693C>A
11g.113932362C>GCA382668866HTR3Bc.442C>G (p.Pro148Ala)
c.409C>G (p.Pro137Ala)
c.228C>G
c.241C>G (p.Pro81Ala)
c.235C>G (p.Pro79Ala)
c.148C>G (p.Pro50Ala)
n.693C>G
11g.113932362C>TCA382668867HTR3Bc.442C>T (p.Pro148Ser)
c.409C>T (p.Pro137Ser)
c.228C>T
c.241C>T (p.Pro81Ser)
c.235C>T (p.Pro79Ser)
c.148C>T (p.Pro50Ser)
n.693C>T
11g.113932363C>ACA382668869HTR3Bc.443C>A (p.Pro148His)
c.410C>A (p.Pro137His)
c.229C>A
c.242C>A (p.Pro81His)
c.236C>A (p.Pro79His)
c.149C>A (p.Pro50His)
n.694C>A
11g.113932363C>GCA382668873HTR3Bc.443C>G (p.Pro148Arg)
c.410C>G (p.Pro137Arg)
c.229C>G
c.242C>G (p.Pro81Arg)
c.236C>G (p.Pro79Arg)
c.149C>G (p.Pro50Arg)
n.694C>G
11g.113932363C>TCA382668871HTR3Bc.443C>T (p.Pro148Leu)
c.410C>T (p.Pro137Leu)
c.229C>T
c.242C>T (p.Pro81Leu)
c.236C>T (p.Pro79Leu)
c.149C>T (p.Pro50Leu)
n.694C>T
11g.113932364C>ACA476831298HTR3Bc.444C>A (p.Pro148=)
c.411C>A (p.Pro137=)
c.230C>A
c.243C>A (p.Pro81=)
c.237C>A (p.Pro79=)
c.150C>A (p.Pro50=)
n.695C>A
11g.113932364C=CA2001397946HTR3Bc.444C= (p.Pro148=)
c.411C= (p.Pro137=)
c.230C=
c.243C= (p.Pro81=)
c.237C= (p.Pro79=)
c.150C= (p.Pro50=)
n.695C=
11g.113932364C>GCA476831301HTR3Bc.444C>G (p.Pro148=)
c.411C>G (p.Pro137=)
c.230C>G
c.243C>G (p.Pro81=)
c.237C>G (p.Pro79=)
c.150C>G (p.Pro50=)
n.695C>G
11g.113932364C>TCA228667949HTR3Bc.444C>T (p.Pro148=)
c.411C>T (p.Pro137=)
c.230C>T
c.243C>T (p.Pro81=)
c.237C>T (p.Pro79=)
c.150C>T (p.Pro50=)
n.695C>T
dbSNP gnomAD v3 gnomAD v4
11g.113932365A=CA2001397947HTR3Bc.445A= (p.Ile149=)
c.412A= (p.Ile138=)
c.231A=
c.244A= (p.Ile82=)
c.238A= (p.Ile80=)
c.151A= (p.Ile51=)
n.696A=
11g.113932365A>CCA382668878HTR3Bc.445A>C (p.Ile149Leu)
c.412A>C (p.Ile138Leu)
c.231A>C
c.244A>C (p.Ile82Leu)
c.238A>C (p.Ile80Leu)
c.151A>C (p.Ile51Leu)
n.696A>C
11g.113932365A>GCA6284047HTR3Bc.445A>G (p.Ile149Val)
c.412A>G (p.Ile138Val)
c.231A>G
c.244A>G (p.Ile82Val)
c.238A>G (p.Ile80Val)
c.151A>G (p.Ile51Val)
n.696A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113932365A>TCA382668877HTR3Bc.445A>T (p.Ile149Phe)
c.412A>T (p.Ile138Phe)
c.231A>T
c.244A>T (p.Ile82Phe)
c.238A>T (p.Ile80Phe)
c.151A>T (p.Ile51Phe)
n.696A>T
11g.113932366T>ACA382668880HTR3Bc.446T>A (p.Ile149Asn)
c.413T>A (p.Ile138Asn)
c.232T>A
c.245T>A (p.Ile82Asn)
c.239T>A (p.Ile80Asn)
c.152T>A (p.Ile51Asn)
n.697T>A
dbSNP gnomAD v3 gnomAD v4
11g.113932366T>CCA382668881HTR3Bc.446T>C (p.Ile149Thr)
c.413T>C (p.Ile138Thr)
c.232T>C
c.245T>C (p.Ile82Thr)
c.239T>C (p.Ile80Thr)
c.152T>C (p.Ile51Thr)
n.697T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.113932366T>GCA382668883HTR3Bc.446T>G (p.Ile149Ser)
c.413T>G (p.Ile138Ser)
c.232T>G
c.245T>G (p.Ile82Ser)
c.239T>G (p.Ile80Ser)
c.152T>G (p.Ile51Ser)
n.697T>G
gnomAD v4
11g.113932366T=CA2001397948HTR3Bc.446T= (p.Ile149=)
c.413T= (p.Ile138=)
c.232T=
c.245T= (p.Ile82=)
c.239T= (p.Ile80=)
c.152T= (p.Ile51=)
n.697T=
11g.113932367C>ACA476831308HTR3Bc.447C>A (p.Ile149=)
c.414C>A (p.Ile138=)
c.233C>A
c.246C>A (p.Ile82=)
c.240C>A (p.Ile80=)
c.153C>A (p.Ile51=)
n.698C>A
11g.113932367C=CA2001397949HTR3Bc.447C= (p.Ile149=)
c.414C= (p.Ile138=)
c.233C=
c.246C= (p.Ile82=)
c.240C= (p.Ile80=)
c.153C= (p.Ile51=)
n.698C=
11g.113932367C>GCA382668885HTR3Bc.447C>G (p.Ile149Met)
c.414C>G (p.Ile138Met)
c.233C>G
c.246C>G (p.Ile82Met)
c.240C>G (p.Ile80Met)
c.153C>G (p.Ile51Met)
n.698C>G
11g.113932367C>TCA476831311HTR3Bc.447C>T (p.Ile149=)
c.414C>T (p.Ile138=)
c.233C>T
c.246C>T (p.Ile82=)
c.240C>T (p.Ile80=)
c.153C>T (p.Ile51=)
n.698C>T
dbSNP
11g.113932368C>ACA382668890HTR3Bc.448C>A (p.Gln150Lys)
c.415C>A (p.Gln139Lys)
c.234C>A
c.247C>A (p.Gln83Lys)
c.241C>A (p.Gln81Lys)
c.154C>A (p.Gln52Lys)
n.699C>A
COSMIC
11g.113932368C=CA2001397950HTR3Bc.448C= (p.Gln150=)
c.415C= (p.Gln139=)
c.234C=
c.247C= (p.Gln83=)
c.241C= (p.Gln81=)
c.154C= (p.Gln52=)
n.699C=
11g.113932368C>GCA382668886HTR3Bc.448C>G (p.Gln150Glu)
c.415C>G (p.Gln139Glu)
c.234C>G
c.247C>G (p.Gln83Glu)
c.241C>G (p.Gln81Glu)
c.154C>G (p.Gln52Glu)
n.699C>G
11g.113932368C>TCA382668888HTR3Bc.448C>T (p.Gln150Ter)
c.415C>T (p.Gln139Ter)
c.234C>T
c.247C>T (p.Gln83Ter)
c.241C>T (p.Gln81Ter)
c.154C>T (p.Gln52Ter)
n.699C>T
dbSNP
11g.113932369A=CA2001397951HTR3Bc.449A= (p.Gln150=)
c.416A= (p.Gln139=)
c.235A=
c.248A= (p.Gln83=)
c.242A= (p.Gln81=)
c.155A= (p.Gln52=)
n.700A=
11g.113932369A>CCA382668892HTR3Bc.449A>C (p.Gln150Pro)
c.416A>C (p.Gln139Pro)
c.235A>C
c.248A>C (p.Gln83Pro)
c.242A>C (p.Gln81Pro)
c.155A>C (p.Gln52Pro)
n.700A>C
11g.113932369A>GCA382668893HTR3Bc.449A>G (p.Gln150Arg)
c.416A>G (p.Gln139Arg)
c.235A>G
c.248A>G (p.Gln83Arg)
c.242A>G (p.Gln81Arg)
c.155A>G (p.Gln52Arg)
n.700A>G
11g.113932369A>TCA6284048HTR3Bc.449A>T (p.Gln150Leu)
c.416A>T (p.Gln139Leu)
c.235A>T
c.248A>T (p.Gln83Leu)
c.242A>T (p.Gln81Leu)
c.155A>T (p.Gln52Leu)
n.700A>T
dbSNP ExAC gnomAD v2 gnomAD v4
11g.113932370G>ACA476831322HTR3Bc.450G>A (p.Gln150=)
c.417G>A (p.Gln139=)
c.236G>A
c.249G>A (p.Gln83=)
c.243G>A (p.Gln81=)
c.156G>A (p.Gln52=)
n.701G>A
gnomAD v4
11g.113932370G>CCA382668896HTR3Bc.450G>C (p.Gln150His)
c.417G>C (p.Gln139His)
c.236G>C
c.249G>C (p.Gln83His)
c.243G>C (p.Gln81His)
c.156G>C (p.Gln52His)
n.701G>C
11g.113932370G>TCA382668898HTR3Bc.450G>T (p.Gln150His)
c.417G>T (p.Gln139His)
c.236G>T
c.249G>T (p.Gln83His)
c.243G>T (p.Gln81His)
c.156G>T (p.Gln52His)
n.701G>T
11g.113932371G>ACA382668899HTR3Bc.451G>A (p.Val151Met)
c.418G>A (p.Val140Met)
c.237G>A
c.250G>A (p.Val84Met)
c.244G>A (p.Val82Met)
c.157G>A (p.Val53Met)
n.702G>A
11g.113932371G>CCA382668903HTR3Bc.451G>C (p.Val151Leu)
c.418G>C (p.Val140Leu)
c.237G>C
c.250G>C (p.Val84Leu)
c.244G>C (p.Val82Leu)
c.157G>C (p.Val53Leu)
n.702G>C
11g.113932371G>TCA382668901HTR3Bc.451G>T (p.Val151Leu)
c.418G>T (p.Val140Leu)
c.237G>T
c.250G>T (p.Val84Leu)
c.244G>T (p.Val82Leu)
c.157G>T (p.Val53Leu)
n.702G>T
gnomAD v4
11g.113932372delCA645595681HTR3Bc.452del (p.Val151GlyfsTer7)
c.419del (p.Val140GlyfsTer7)
c.238del
c.251del (p.Val84GlyfsTer7)
c.245del (p.Val82GlyfsTer7)
c.158del (p.Val53GlyfsTer7)
n.703del
COSMIC COSMIC
11g.113932372T>ACA382668905HTR3Bc.452T>A (p.Val151Glu)
c.419T>A (p.Val140Glu)
c.238T>A
c.251T>A (p.Val84Glu)
c.245T>A (p.Val82Glu)
c.158T>A (p.Val53Glu)
n.703T>A
11g.113932372T>CCA382668907HTR3Bc.452T>C (p.Val151Ala)
c.419T>C (p.Val140Ala)
c.238T>C
c.251T>C (p.Val84Ala)
c.245T>C (p.Val82Ala)
c.158T>C (p.Val53Ala)
n.703T>C
11g.113932372T>GCA382668908HTR3Bc.452T>G (p.Val151Gly)
c.419T>G (p.Val140Gly)
c.238T>G
c.251T>G (p.Val84Gly)
c.245T>G (p.Val82Gly)
c.158T>G (p.Val53Gly)
n.703T>G
11g.113932373G>ACA6284049HTR3Bc.453G>A (p.Val151=)
c.420G>A (p.Val140=)
c.239G>A
c.252G>A (p.Val84=)
c.246G>A (p.Val82=)
c.159G>A (p.Val53=)
n.704G>A
dbSNP ExAC gnomAD v2 gnomAD v4
11g.113932373G>CCA476831334HTR3Bc.453G>C (p.Val151=)
c.420G>C (p.Val140=)
c.239G>C
c.252G>C (p.Val84=)
c.246G>C (p.Val82=)
c.159G>C (p.Val53=)
n.704G>C
11g.113932373G=CA2001397952HTR3Bc.453G= (p.Val151=)
c.420G= (p.Val140=)
c.239G=
c.252G= (p.Val84=)
c.246G= (p.Val82=)
c.159G= (p.Val53=)
n.704G=
11g.113932373G>TCA476831336HTR3Bc.453G>T (p.Val151=)
c.420G>T (p.Val140=)
c.239G>T
c.252G>T (p.Val84=)
c.246G>T (p.Val82=)
c.159G>T (p.Val53=)
n.704G>T
11g.113932374G>ACA382668913HTR3Bc.454G>A (p.Val152Ile)
c.421G>A (p.Val141Ile)
c.240G>A
c.253G>A (p.Val85Ile)
c.247G>A (p.Val83Ile)
c.160G>A (p.Val54Ile)
n.705G>A
11g.113932374G>CCA382668915HTR3Bc.454G>C (p.Val152Leu)
c.421G>C (p.Val141Leu)
c.240G>C
c.253G>C (p.Val85Leu)
c.247G>C (p.Val83Leu)
c.160G>C (p.Val54Leu)
n.705G>C
11g.113932374G=CA2001397953HTR3Bc.454G= (p.Val152=)
c.421G= (p.Val141=)
c.240G=
c.253G= (p.Val85=)
c.247G= (p.Val83=)
c.160G= (p.Val54=)
n.705G=
11g.113932374G>TCA382668916HTR3Bc.454G>T (p.Val152Phe)
c.421G>T (p.Val141Phe)
c.240G>T
c.253G>T (p.Val85Phe)
c.247G>T (p.Val83Phe)
c.160G>T (p.Val54Phe)
n.705G>T
dbSNP
11g.113932375T>ACA382668918HTR3Bc.455T>A (p.Val152Asp)
c.422T>A (p.Val141Asp)
c.241T>A
c.254T>A (p.Val85Asp)
c.248T>A (p.Val83Asp)
c.161T>A (p.Val54Asp)
n.706T>A
11g.113932375T>CCA6284050HTR3Bc.455T>C (p.Val152Ala)
c.422T>C (p.Val141Ala)
c.241T>C
c.254T>C (p.Val85Ala)
c.248T>C (p.Val83Ala)
c.161T>C (p.Val54Ala)
n.706T>C
dbSNP ExAC gnomAD v2 gnomAD v4
11g.113932375T>GCA382668922HTR3Bc.455T>G (p.Val152Gly)
c.422T>G (p.Val141Gly)
c.241T>G
c.254T>G (p.Val85Gly)
c.248T>G (p.Val83Gly)
c.161T>G (p.Val54Gly)
n.706T>G
11g.113932375T=CA2001397954HTR3Bc.455T= (p.Val152=)
c.422T= (p.Val141=)
c.241T=
c.254T= (p.Val85=)
c.248T= (p.Val83=)
c.161T= (p.Val54=)
n.706T=
11g.113932378_113932379delCA2616054434HTR3Bc.458_459del (p.Ser153CysfsTer12)
c.425_426del (p.Ser142CysfsTer12)
c.244_245del
c.257_258del (p.Ser86CysfsTer12)
c.251_252del (p.Ser84CysfsTer12)
c.164_165del (p.Ser55CysfsTer12)
n.709_710del
gnomAD v4
11g.113932376C>ACA476831343HTR3Bc.456C>A (p.Val152=)
c.423C>A (p.Val141=)
c.242C>A
c.255C>A (p.Val85=)
c.249C>A (p.Val83=)
c.162C>A (p.Val54=)
n.707C>A
11g.113932376C>GCA476831346HTR3Bc.456C>G (p.Val152=)
c.423C>G (p.Val141=)
c.242C>G
c.255C>G (p.Val85=)
c.249C>G (p.Val83=)
c.162C>G (p.Val54=)
n.707C>G
gnomAD v4
11g.113932376C>TCA476831347HTR3Bc.456C>T (p.Val152=)
c.423C>T (p.Val141=)
c.242C>T
c.255C>T (p.Val85=)
c.249C>T (p.Val83=)
c.162C>T (p.Val54=)
n.707C>T
11g.113932377T>ACA382668925HTR3Bc.457T>A (p.Ser153Thr)
c.424T>A (p.Ser142Thr)
c.243T>A
c.256T>A (p.Ser86Thr)
c.250T>A (p.Ser84Thr)
c.163T>A (p.Ser55Thr)
n.708T>A
11g.113932377T>CCA382668924HTR3Bc.457T>C (p.Ser153Pro)
c.424T>C (p.Ser142Pro)
c.243T>C
c.256T>C (p.Ser86Pro)
c.250T>C (p.Ser84Pro)
c.163T>C (p.Ser55Pro)
n.708T>C
11g.113932377T>GCA382668923HTR3Bc.457T>G (p.Ser153Ala)
c.424T>G (p.Ser142Ala)
c.243T>G
c.256T>G (p.Ser86Ala)
c.250T>G (p.Ser84Ala)
c.163T>G (p.Ser55Ala)
n.708T>G
11g.113932378C>ACA382668927HTR3Bc.458C>A (p.Ser153Tyr)
c.425C>A (p.Ser142Tyr)
c.244C>A
c.257C>A (p.Ser86Tyr)
c.251C>A (p.Ser84Tyr)
c.164C>A (p.Ser55Tyr)
n.709C>A
11g.113932378C>GCA382668929HTR3Bc.458C>G (p.Ser153Cys)
c.425C>G (p.Ser142Cys)
c.244C>G
c.257C>G (p.Ser86Cys)
c.251C>G (p.Ser84Cys)
c.164C>G (p.Ser55Cys)
n.709C>G
11g.113932378C>TCA382668930HTR3Bc.458C>T (p.Ser153Phe)
c.425C>T (p.Ser142Phe)
c.244C>T
c.257C>T (p.Ser86Phe)
c.251C>T (p.Ser84Phe)
c.164C>T (p.Ser55Phe)
n.709C>T
gnomAD v4
11g.113932379T>ACA476831358HTR3Bc.459T>A (p.Ser153=)
c.426T>A (p.Ser142=)
c.245T>A
c.258T>A (p.Ser86=)
c.252T>A (p.Ser84=)
c.165T>A (p.Ser55=)
n.710T>A
11g.113932379T>CCA476831360HTR3Bc.459T>C (p.Ser153=)
c.426T>C (p.Ser142=)
c.245T>C
c.258T>C (p.Ser86=)
c.252T>C (p.Ser84=)
c.165T>C (p.Ser55=)
n.710T>C
11g.113932379T>GCA476831361HTR3Bc.459T>G (p.Ser153=)
c.426T>G (p.Ser142=)
c.245T>G
c.258T>G (p.Ser86=)
c.252T>G (p.Ser84=)
c.165T>G (p.Ser55=)
n.710T>G
11g.113932380G>ACA382668931HTR3Bc.460G>A (p.Ala154Thr)
c.427G>A (p.Ala143Thr)
c.246G>A
c.259G>A (p.Ala87Thr)
c.253G>A (p.Ala85Thr)
c.166G>A (p.Ala56Thr)
n.711G>A
dbSNP gnomAD v3 gnomAD v4
11g.113932380G>CCA382668932HTR3Bc.460G>C (p.Ala154Pro)
c.427G>C (p.Ala143Pro)
c.246G>C
c.259G>C (p.Ala87Pro)
c.253G>C (p.Ala85Pro)
c.166G>C (p.Ala56Pro)
n.711G>C
11g.113932380G=CA2001397955HTR3Bc.460G= (p.Ala154=)
c.427G= (p.Ala143=)
c.246G=
c.259G= (p.Ala87=)
c.253G= (p.Ala85=)
c.166G= (p.Ala56=)
n.711G=
11g.113932380G>TCA382668934HTR3Bc.460G>T (p.Ala154Ser)
c.427G>T (p.Ala143Ser)
c.246G>T
c.259G>T (p.Ala87Ser)
c.253G>T (p.Ala85Ser)
c.166G>T (p.Ala56Ser)
n.711G>T
11g.113932381C>ACA6284052HTR3Bc.461C>A (p.Ala154Glu)
c.428C>A (p.Ala143Glu)
c.247C>A
c.260C>A (p.Ala87Glu)
c.254C>A (p.Ala85Glu)
c.167C>A (p.Ala56Glu)
n.712C>A
dbSNP ExAC gnomAD v2 gnomAD v4
11g.113932381C=CA2001397956HTR3Bc.461C= (p.Ala154=)
c.428C= (p.Ala143=)
c.247C=
c.260C= (p.Ala87=)
c.254C= (p.Ala85=)
c.167C= (p.Ala56=)
n.712C=
11g.113932381C>GCA382668936HTR3Bc.461C>G (p.Ala154Gly)
c.428C>G (p.Ala143Gly)
c.247C>G
c.260C>G (p.Ala87Gly)
c.254C>G (p.Ala85Gly)
c.167C>G (p.Ala56Gly)
n.712C>G
11g.113932381C>TCA6284051HTR3Bc.461C>T (p.Ala154Val)
c.428C>T (p.Ala143Val)
c.247C>T
c.260C>T (p.Ala87Val)
c.254C>T (p.Ala85Val)
c.167C>T (p.Ala56Val)
n.712C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113932382G>ACA6284053HTR3Bc.462G>A (p.Ala154=)
c.429G>A (p.Ala143=)
c.248G>A
c.261G>A (p.Ala87=)
c.255G>A (p.Ala85=)
c.168G>A (p.Ala56=)
n.713G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113932382G>CCA6284054HTR3Bc.462G>C (p.Ala154=)
c.429G>C (p.Ala143=)
c.248G>C
c.261G>C (p.Ala87=)
c.255G>C (p.Ala85=)
c.168G>C (p.Ala56=)
n.713G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113932382G=CA2001397957HTR3Bc.462G= (p.Ala154=)
c.429G= (p.Ala143=)
c.248G=
c.261G= (p.Ala87=)
c.255G= (p.Ala85=)
c.168G= (p.Ala56=)
n.713G=
11g.113932382G>TCA6284055HTR3Bc.462G>T (p.Ala154=)
c.429G>T (p.Ala143=)
c.248G>T
c.261G>T (p.Ala87=)
c.255G>T (p.Ala85=)
c.168G>T (p.Ala56=)
n.713G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113932383T>ACA382668943HTR3Bc.463T>A (p.Cys155Ser)
c.430T>A (p.Cys144Ser)
c.249T>A
c.262T>A (p.Cys88Ser)
c.256T>A (p.Cys86Ser)
c.169T>A (p.Cys57Ser)
n.714T>A
11g.113932383T>CCA382668946HTR3Bc.463T>C (p.Cys155Arg)
c.430T>C (p.Cys144Arg)
c.249T>C
c.262T>C (p.Cys88Arg)
c.256T>C (p.Cys86Arg)
c.169T>C (p.Cys57Arg)
n.714T>C
11g.113932383T>GCA6284056HTR3Bc.463T>G (p.Cys155Gly)
c.430T>G (p.Cys144Gly)
c.249T>G
c.262T>G (p.Cys88Gly)
c.256T>G (p.Cys86Gly)
c.169T>G (p.Cys57Gly)
n.714T>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113932383T=CA2001397958HTR3Bc.463T= (p.Cys155=)
c.430T= (p.Cys144=)
c.249T=
c.262T= (p.Cys88=)
c.256T= (p.Cys86=)
c.169T= (p.Cys57=)
n.714T=
11g.113932384G>ACA382668954HTR3Bc.464G>A (p.Cys155Tyr)
c.431G>A (p.Cys144Tyr)
c.250G>A
c.263G>A (p.Cys88Tyr)
c.257G>A (p.Cys86Tyr)
c.170G>A (p.Cys57Tyr)
n.715G>A
11g.113932384G>CCA228668011HTR3Bc.464G>C (p.Cys155Ser)
c.431G>C (p.Cys144Ser)
c.250G>C
c.263G>C (p.Cys88Ser)
c.257G>C (p.Cys86Ser)
c.170G>C (p.Cys57Ser)
n.715G>C
dbSNP
11g.113932384G=CA2001397959HTR3Bc.464G= (p.Cys155=)
c.431G= (p.Cys144=)
c.250G=
c.263G= (p.Cys88=)
c.257G= (p.Cys86=)
c.170G= (p.Cys57=)
n.715G=
11g.113932384G>TCA382668952HTR3Bc.464G>T (p.Cys155Phe)
c.431G>T (p.Cys144Phe)
c.250G>T
c.263G>T (p.Cys88Phe)
c.257G>T (p.Cys86Phe)
c.170G>T (p.Cys57Phe)
n.715G>T
11g.113932385C>ACA382668957HTR3Bc.465C>A (p.Cys155Ter)
c.432C>A (p.Cys144Ter)
c.251C>A
c.264C>A (p.Cys88Ter)
c.258C>A (p.Cys86Ter)
c.171C>A (p.Cys57Ter)
n.716C>A
11g.113932385C>GCA382668959HTR3Bc.465C>G (p.Cys155Trp)
c.432C>G (p.Cys144Trp)
c.251C>G
c.264C>G (p.Cys88Trp)
c.258C>G (p.Cys86Trp)
c.171C>G (p.Cys57Trp)
n.716C>G
11g.113932385C>TCA476831380HTR3Bc.465C>T (p.Cys155=)
c.432C>T (p.Cys144=)
c.251C>T
c.264C>T (p.Cys88=)
c.258C>T (p.Cys86=)
c.171C>T (p.Cys57=)
n.716C>T
dbSNP
11g.113932386A=CA2001397960HTR3Bc.466A= (p.Ser156=)
c.433A= (p.Ser145=)
c.252A=
c.265A= (p.Ser89=)
c.259A= (p.Ser87=)
c.172A= (p.Ser58=)
n.717A=
11g.113932386A>CCA6284057HTR3Bc.466A>C (p.Ser156Arg)
c.433A>C (p.Ser145Arg)
c.252A>C
c.265A>C (p.Ser89Arg)
c.259A>C (p.Ser87Arg)
c.172A>C (p.Ser58Arg)
n.717A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113932386A>GCA382668962HTR3Bc.466A>G (p.Ser156Gly)
c.433A>G (p.Ser145Gly)
c.252A>G
c.265A>G (p.Ser89Gly)
c.259A>G (p.Ser87Gly)
c.172A>G (p.Ser58Gly)
n.717A>G
11g.113932386A>TCA382668965HTR3Bc.466A>T (p.Ser156Cys)
c.433A>T (p.Ser145Cys)
c.252A>T
c.265A>T (p.Ser89Cys)
c.259A>T (p.Ser87Cys)
c.172A>T (p.Ser58Cys)
n.717A>T

Number of alleles fetched