Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.31933878T>ACA363497038C2c.442T>A (p.Tyr148Asn)
c.259T>A (p.Tyr87Asn)
c.628T>A (p.Tyr210Asn)
c.123T>A (p.Leu41=)
c.223T>A (p.Tyr75Asn)
n.431T>A
n.566T>A
c.232T>A (p.Tyr78Asn)
c.222T>A
c.111+95T>A (n.111+95T>A)
c.443-3441T>A (n.443-3441T>A)
c.*341T>A (n.*341T>A)
c.205T>A (p.Tyr69Asn)
c.541T>A (p.Tyr181Asn)
6g.31933878T>CCA363497039C2c.442T>C (p.Tyr148His)
c.259T>C (p.Tyr87His)
c.628T>C (p.Tyr210His)
c.123T>C (p.Leu41=)
c.223T>C (p.Tyr75His)
n.431T>C
n.566T>C
c.232T>C (p.Tyr78His)
c.222T>C
c.111+95T>C (n.111+95T>C)
c.443-3441T>C (n.443-3441T>C)
c.*341T>C (n.*341T>C)
c.205T>C (p.Tyr69His)
c.541T>C (p.Tyr181His)
6g.31933878T>GCA363497041C2c.442T>G (p.Tyr148Asp)
c.259T>G (p.Tyr87Asp)
c.628T>G (p.Tyr210Asp)
c.123T>G (p.Leu41=)
c.223T>G (p.Tyr75Asp)
n.431T>G
n.566T>G
c.232T>G (p.Tyr78Asp)
c.222T>G
c.111+95T>G (n.111+95T>G)
c.443-3441T>G (n.443-3441T>G)
c.*341T>G (n.*341T>G)
c.205T>G (p.Tyr69Asp)
c.541T>G (p.Tyr181Asp)
6g.31933879A>CCA363497045C2c.443A>C (p.Tyr148Ser)
c.260A>C (p.Tyr87Ser)
c.629A>C (p.Tyr210Ser)
c.124A>C (p.Met42Leu)
c.224A>C (p.Tyr75Ser)
n.432A>C
n.567A>C
c.233A>C (p.Tyr78Ser)
c.223A>C
c.111+96A>C (n.111+96A>C)
c.443-3440A>C (n.443-3440A>C)
c.*342A>C (n.*342A>C)
c.206A>C (p.Tyr69Ser)
c.542A>C (p.Tyr181Ser)
 COSMIC
6g.31933879A>GCA363497048C2c.443A>G (p.Tyr148Cys)
c.260A>G (p.Tyr87Cys)
c.629A>G (p.Tyr210Cys)
c.124A>G (p.Met42Val)
c.224A>G (p.Tyr75Cys)
n.432A>G
n.567A>G
c.233A>G (p.Tyr78Cys)
c.223A>G
c.111+96A>G (n.111+96A>G)
c.443-3440A>G (n.443-3440A>G)
c.*342A>G (n.*342A>G)
c.206A>G (p.Tyr69Cys)
c.542A>G (p.Tyr181Cys)
 gnomAD v4
6g.31933879A>TCA363497049C2c.443A>T (p.Tyr148Phe)
c.260A>T (p.Tyr87Phe)
c.629A>T (p.Tyr210Phe)
c.124A>T (p.Met42Leu)
c.224A>T (p.Tyr75Phe)
n.432A>T
n.567A>T
c.233A>T (p.Tyr78Phe)
c.223A>T
c.111+96A>T (n.111+96A>T)
c.443-3440A>T (n.443-3440A>T)
c.*342A>T (n.*342A>T)
c.206A>T (p.Tyr69Phe)
c.542A>T (p.Tyr181Phe)
6g.31933880T>ACA363497056C2c.444T>A (p.Tyr148Ter)
c.261T>A (p.Tyr87Ter)
c.630T>A (p.Tyr210Ter)
c.125T>A (p.Met42Lys)
c.225T>A (p.Tyr75Ter)
n.433T>A
n.568T>A
c.234T>A (p.Tyr78Ter)
c.224T>A
c.111+97T>A (n.111+97T>A)
c.443-3439T>A (n.443-3439T>A)
c.*343T>A (n.*343T>A)
c.207T>A (p.Tyr69Ter)
c.543T>A (p.Tyr181Ter)
 ClinVar
6g.31933880T>CCA3727458C2c.444T>C (p.Tyr148=)
c.261T>C (p.Tyr87=)
c.630T>C (p.Tyr210=)
c.125T>C (p.Met42Thr)
c.225T>C (p.Tyr75=)
n.433T>C
n.568T>C
c.234T>C (p.Tyr78=)
c.224T>C
c.111+97T>C (n.111+97T>C)
c.443-3439T>C (n.443-3439T>C)
c.*343T>C (n.*343T>C)
c.207T>C (p.Tyr69=)
c.543T>C (p.Tyr181=)
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.31933880T>GCA363497052C2c.444T>G (p.Tyr148Ter)
c.261T>G (p.Tyr87Ter)
c.630T>G (p.Tyr210Ter)
c.125T>G (p.Met42Arg)
c.225T>G (p.Tyr75Ter)
n.433T>G
n.568T>G
c.234T>G (p.Tyr78Ter)
c.224T>G
c.111+97T>G (n.111+97T>G)
c.443-3439T>G (n.443-3439T>G)
c.*343T>G (n.*343T>G)
c.207T>G (p.Tyr69Ter)
c.543T>G (p.Tyr181Ter)
6g.31933880T=CA1619369903C2c.444T= (p.Tyr148=)
c.261T= (p.Tyr87=)
c.630T= (p.Tyr210=)
c.125T= (p.Met42=)
c.225T= (p.Tyr75=)
n.433T=
n.568T=
c.234T= (p.Tyr78=)
c.224T=
c.111+97T= (n.111+97T=)
c.443-3439T= (n.443-3439T=)
c.*343T= (n.*343T=)
c.207T= (p.Tyr69=)
c.543T= (p.Tyr181=)
6g.31933881G>ACA363497069C2c.445G>A (p.Asp149Asn)
c.262G>A (p.Asp88Asn)
c.631G>A (p.Asp211Asn)
c.126G>A (p.Met42Ile)
c.226G>A (p.Asp76Asn)
n.434G>A
n.569G>A
c.235G>A (p.Asp79Asn)
c.225G>A
c.111+98G>A (n.111+98G>A)
c.443-3438G>A (n.443-3438G>A)
c.*344G>A (n.*344G>A)
c.208G>A (p.Asp70Asn)
c.544G>A (p.Asp182Asn)
6g.31933881G>CCA363497060C2c.445G>C (p.Asp149His)
c.262G>C (p.Asp88His)
c.631G>C (p.Asp211His)
c.126G>C (p.Met42Ile)
c.226G>C (p.Asp76His)
n.434G>C
n.569G>C
c.235G>C (p.Asp79His)
c.225G>C
c.111+98G>C (n.111+98G>C)
c.443-3438G>C (n.443-3438G>C)
c.*344G>C (n.*344G>C)
c.208G>C (p.Asp70His)
c.544G>C (p.Asp182His)
6g.31933881G>TCA363497067C2c.445G>T (p.Asp149Tyr)
c.262G>T (p.Asp88Tyr)
c.631G>T (p.Asp211Tyr)
c.126G>T (p.Met42Ile)
c.226G>T (p.Asp76Tyr)
n.434G>T
n.569G>T
c.235G>T (p.Asp79Tyr)
c.225G>T
c.111+98G>T (n.111+98G>T)
c.443-3438G>T (n.443-3438G>T)
c.*344G>T (n.*344G>T)
c.208G>T (p.Asp70Tyr)
c.544G>T (p.Asp182Tyr)
6g.31933882A>CCA363497072C2c.446A>C (p.Asp149Ala)
c.263A>C (p.Asp88Ala)
c.632A>C (p.Asp211Ala)
c.127A>C (p.Thr43Pro)
c.227A>C (p.Asp76Ala)
n.435A>C
n.570A>C
c.236A>C (p.Asp79Ala)
c.226A>C
c.111+99A>C (n.111+99A>C)
c.443-3437A>C (n.443-3437A>C)
c.*345A>C (n.*345A>C)
c.209A>C (p.Asp70Ala)
c.545A>C (p.Asp182Ala)
6g.31933882A>GCA363497074C2c.446A>G (p.Asp149Gly)
c.263A>G (p.Asp88Gly)
c.632A>G (p.Asp211Gly)
c.127A>G (p.Thr43Ala)
c.227A>G (p.Asp76Gly)
n.435A>G
n.570A>G
c.236A>G (p.Asp79Gly)
c.226A>G
c.111+99A>G (n.111+99A>G)
c.443-3437A>G (n.443-3437A>G)
c.*345A>G (n.*345A>G)
c.209A>G (p.Asp70Gly)
c.545A>G (p.Asp182Gly)
6g.31933882A>TCA363497077C2c.446A>T (p.Asp149Val)
c.263A>T (p.Asp88Val)
c.632A>T (p.Asp211Val)
c.127A>T (p.Thr43Ser)
c.227A>T (p.Asp76Val)
n.435A>T
n.570A>T
c.236A>T (p.Asp79Val)
c.226A>T
c.111+99A>T (n.111+99A>T)
c.443-3437A>T (n.443-3437A>T)
c.*345A>T (n.*345A>T)
c.209A>T (p.Asp70Val)
c.545A>T (p.Asp182Val)
6g.31933883C>ACA363497085C2c.447C>A (p.Asp149Glu)
c.264C>A (p.Asp88Glu)
c.633C>A (p.Asp211Glu)
c.128C>A (p.Thr43Asn)
c.228C>A (p.Asp76Glu)
n.436C>A
n.571C>A
c.237C>A (p.Asp79Glu)
c.227C>A
c.111+100C>A (n.111+100C>A)
c.443-3436C>A (n.443-3436C>A)
c.*346C>A (n.*346C>A)
c.210C>A (p.Asp70Glu)
c.546C>A (p.Asp182Glu)
6g.31933883C>GCA363497082C2c.447C>G (p.Asp149Glu)
c.264C>G (p.Asp88Glu)
c.633C>G (p.Asp211Glu)
c.128C>G (p.Thr43Ser)
c.228C>G (p.Asp76Glu)
n.436C>G
n.571C>G
c.237C>G (p.Asp79Glu)
c.227C>G
c.111+100C>G (n.111+100C>G)
c.443-3436C>G (n.443-3436C>G)
c.*346C>G (n.*346C>G)
c.210C>G (p.Asp70Glu)
c.546C>G (p.Asp182Glu)
6g.31933883C>TCA363497079C2c.447C>T (p.Asp149=)
c.264C>T (p.Asp88=)
c.633C>T (p.Asp211=)
c.128C>T (p.Thr43Ile)
c.228C>T (p.Asp76=)
n.436C>T
n.571C>T
c.237C>T (p.Asp79=)
c.227C>T
c.111+100C>T (n.111+100C>T)
c.443-3436C>T (n.443-3436C>T)
c.*346C>T (n.*346C>T)
c.210C>T (p.Asp70=)
c.546C>T (p.Asp182=)
6g.31933884T>ACA363497088C2c.448T>A (p.Phe150Ile)
c.265T>A (p.Phe89Ile)
c.634T>A (p.Phe212Ile)
c.129T>A (p.Thr43=)
c.229T>A (p.Phe77Ile)
n.437T>A
n.572T>A
c.238T>A (p.Phe80Ile)
c.228T>A
c.111+101T>A (n.111+101T>A)
c.443-3435T>A (n.443-3435T>A)
c.*347T>A (n.*347T>A)
c.211T>A (p.Phe71Ile)
c.547T>A (p.Phe183Ile)
6g.31933884T>CCA363497091C2c.448T>C (p.Phe150Leu)
c.265T>C (p.Phe89Leu)
c.634T>C (p.Phe212Leu)
c.129T>C (p.Thr43=)
c.229T>C (p.Phe77Leu)
n.437T>C
n.572T>C
c.238T>C (p.Phe80Leu)
c.228T>C
c.111+101T>C (n.111+101T>C)
c.443-3435T>C (n.443-3435T>C)
c.*347T>C (n.*347T>C)
c.211T>C (p.Phe71Leu)
c.547T>C (p.Phe183Leu)
6g.31933884T>GCA363497093C2c.448T>G (p.Phe150Val)
c.265T>G (p.Phe89Val)
c.634T>G (p.Phe212Val)
c.129T>G (p.Thr43=)
c.229T>G (p.Phe77Val)
n.437T>G
n.572T>G
c.238T>G (p.Phe80Val)
c.228T>G
c.111+101T>G (n.111+101T>G)
c.443-3435T>G (n.443-3435T>G)
c.*347T>G (n.*347T>G)
c.211T>G (p.Phe71Val)
c.547T>G (p.Phe183Val)
6g.31933885T>ACA363497097C2c.449T>A (p.Phe150Tyr)
c.266T>A (p.Phe89Tyr)
c.635T>A (p.Phe212Tyr)
c.130T>A (p.Ser44Thr)
c.230T>A (p.Phe77Tyr)
n.438T>A
n.573T>A
c.239T>A (p.Phe80Tyr)
c.229T>A
c.111+102T>A (n.111+102T>A)
c.443-3434T>A (n.443-3434T>A)
c.*348T>A (n.*348T>A)
c.212T>A (p.Phe71Tyr)
c.548T>A (p.Phe183Tyr)
6g.31933885T>CCA363497100C2c.449T>C (p.Phe150Ser)
c.266T>C (p.Phe89Ser)
c.635T>C (p.Phe212Ser)
c.130T>C (p.Ser44Pro)
c.230T>C (p.Phe77Ser)
n.438T>C
n.573T>C
c.239T>C (p.Phe80Ser)
c.229T>C
c.111+102T>C (n.111+102T>C)
c.443-3434T>C (n.443-3434T>C)
c.*348T>C (n.*348T>C)
c.212T>C (p.Phe71Ser)
c.548T>C (p.Phe183Ser)
6g.31933885T>GCA363497102C2c.449T>G (p.Phe150Cys)
c.266T>G (p.Phe89Cys)
c.635T>G (p.Phe212Cys)
c.130T>G (p.Ser44Ala)
c.230T>G (p.Phe77Cys)
n.438T>G
n.573T>G
c.239T>G (p.Phe80Cys)
c.229T>G
c.111+102T>G (n.111+102T>G)
c.443-3434T>G (n.443-3434T>G)
c.*348T>G (n.*348T>G)
c.212T>G (p.Phe71Cys)
c.548T>G (p.Phe183Cys)
6g.31933886C>ACA363497107C2c.450C>A (p.Phe150Leu)
c.267C>A (p.Phe89Leu)
c.636C>A (p.Phe212Leu)
c.131C>A (p.Ser44Tyr)
c.231C>A (p.Phe77Leu)
n.439C>A
n.574C>A
c.240C>A (p.Phe80Leu)
c.230C>A
c.111+103C>A (n.111+103C>A)
c.443-3433C>A (n.443-3433C>A)
c.*349C>A (n.*349C>A)
c.213C>A (p.Phe71Leu)
c.549C>A (p.Phe183Leu)
6g.31933886C>GCA363497111C2c.450C>G (p.Phe150Leu)
c.267C>G (p.Phe89Leu)
c.636C>G (p.Phe212Leu)
c.131C>G (p.Ser44Cys)
c.231C>G (p.Phe77Leu)
n.439C>G
n.574C>G
c.240C>G (p.Phe80Leu)
c.230C>G
c.111+103C>G (n.111+103C>G)
c.443-3433C>G (n.443-3433C>G)
c.*349C>G (n.*349C>G)
c.213C>G (p.Phe71Leu)
c.549C>G (p.Phe183Leu)
6g.31933886C>TCA363497108C2c.450C>T (p.Phe150=)
c.267C>T (p.Phe89=)
c.636C>T (p.Phe212=)
c.131C>T (p.Ser44Phe)
c.231C>T (p.Phe77=)
n.439C>T
n.574C>T
c.240C>T (p.Phe80=)
c.230C>T
c.111+103C>T (n.111+103C>T)
c.443-3433C>T (n.443-3433C>T)
c.*349C>T (n.*349C>T)
c.213C>T (p.Phe71=)
c.549C>T (p.Phe183=)
6g.31933887C>ACA3727459C2c.451C>A (p.Pro151Thr)
c.268C>A (p.Pro90Thr)
c.637C>A (p.Pro213Thr)
c.132C>A (p.Ser44=)
c.232C>A (p.Pro78Thr)
n.440C>A
n.575C>A
c.241C>A (p.Pro81Thr)
c.231C>A
c.111+104C>A (n.111+104C>A)
c.443-3432C>A (n.443-3432C>A)
c.*350C>A (n.*350C>A)
c.214C>A (p.Pro72Thr)
c.550C>A (p.Pro184Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31933887C=CA1619369904C2c.451C= (p.Pro151=)
c.268C= (p.Pro90=)
c.637C= (p.Pro213=)
c.132C= (p.Ser44=)
c.232C= (p.Pro78=)
n.440C=
n.575C=
c.241C= (p.Pro81=)
c.231C=
c.111+104C= (n.111+104C=)
c.443-3432C= (n.443-3432C=)
c.*350C= (n.*350C=)
c.214C= (p.Pro72=)
c.550C= (p.Pro184=)
6g.31933887C>GCA363497115C2c.451C>G (p.Pro151Ala)
c.268C>G (p.Pro90Ala)
c.637C>G (p.Pro213Ala)
c.132C>G (p.Ser44=)
c.232C>G (p.Pro78Ala)
n.440C>G
n.575C>G
c.241C>G (p.Pro81Ala)
c.231C>G
c.111+104C>G (n.111+104C>G)
c.443-3432C>G (n.443-3432C>G)
c.*350C>G (n.*350C>G)
c.214C>G (p.Pro72Ala)
c.550C>G (p.Pro184Ala)
6g.31933887C>TCA363497118C2c.451C>T (p.Pro151Ser)
c.268C>T (p.Pro90Ser)
c.637C>T (p.Pro213Ser)
c.132C>T (p.Ser44=)
c.232C>T (p.Pro78Ser)
n.440C>T
n.575C>T
c.241C>T (p.Pro81Ser)
c.231C>T
c.111+104C>T (n.111+104C>T)
c.443-3432C>T (n.443-3432C>T)
c.*350C>T (n.*350C>T)
c.214C>T (p.Pro72Ser)
c.550C>T (p.Pro184Ser)
 gnomAD v4
6g.31933888C>ACA363497121C2c.452C>A (p.Pro151His)
c.269C>A (p.Pro90His)
c.638C>A (p.Pro213His)
c.133C>A (p.Leu45Met)
c.233C>A (p.Pro78His)
n.441C>A
n.576C>A
c.242C>A (p.Pro81His)
c.232C>A
c.111+105C>A (n.111+105C>A)
c.443-3431C>A (n.443-3431C>A)
c.*351C>A (n.*351C>A)
c.215C>A (p.Pro72His)
c.551C>A (p.Pro184His)
6g.31933888C>GCA363497124C2c.452C>G (p.Pro151Arg)
c.269C>G (p.Pro90Arg)
c.638C>G (p.Pro213Arg)
c.133C>G (p.Leu45Val)
c.233C>G (p.Pro78Arg)
n.441C>G
n.576C>G
c.242C>G (p.Pro81Arg)
c.232C>G
c.111+105C>G (n.111+105C>G)
c.443-3431C>G (n.443-3431C>G)
c.*351C>G (n.*351C>G)
c.215C>G (p.Pro72Arg)
c.551C>G (p.Pro184Arg)
6g.31933888C>TCA363497125C2c.452C>T (p.Pro151Leu)
c.269C>T (p.Pro90Leu)
c.638C>T (p.Pro213Leu)
c.133C>T (p.Leu45=)
c.233C>T (p.Pro78Leu)
n.441C>T
n.576C>T
c.242C>T (p.Pro81Leu)
c.232C>T
c.111+105C>T (n.111+105C>T)
c.443-3431C>T (n.443-3431C>T)
c.*351C>T (n.*351C>T)
c.215C>T (p.Pro72Leu)
c.551C>T (p.Pro184Leu)
6g.31933889T>ACA363497129C2c.453T>A (p.Pro151=)
c.270T>A (p.Pro90=)
c.639T>A (p.Pro213=)
c.134T>A (p.Leu45Gln)
c.234T>A (p.Pro78=)
n.442T>A
n.577T>A
c.243T>A (p.Pro81=)
c.233T>A
c.111+106T>A (n.111+106T>A)
c.443-3430T>A (n.443-3430T>A)
c.*352T>A (n.*352T>A)
c.216T>A (p.Pro72=)
c.552T>A (p.Pro184=)
6g.31933889T>CCA363497131C2c.453T>C (p.Pro151=)
c.270T>C (p.Pro90=)
c.639T>C (p.Pro213=)
c.134T>C (p.Leu45Pro)
c.234T>C (p.Pro78=)
n.442T>C
n.577T>C
c.243T>C (p.Pro81=)
c.233T>C
c.111+106T>C (n.111+106T>C)
c.443-3430T>C (n.443-3430T>C)
c.*352T>C (n.*352T>C)
c.216T>C (p.Pro72=)
c.552T>C (p.Pro184=)
 dbSNP gnomAD v2 gnomAD v4
6g.31933889T>GCA363497133C2c.453T>G (p.Pro151=)
c.270T>G (p.Pro90=)
c.639T>G (p.Pro213=)
c.134T>G (p.Leu45Arg)
c.234T>G (p.Pro78=)
n.442T>G
n.577T>G
c.243T>G (p.Pro81=)
c.233T>G
c.111+106T>G (n.111+106T>G)
c.443-3430T>G (n.443-3430T>G)
c.*352T>G (n.*352T>G)
c.216T>G (p.Pro72=)
c.552T>G (p.Pro184=)
6g.31933889T=CA1619369905C2c.453T= (p.Pro151=)
c.270T= (p.Pro90=)
c.639T= (p.Pro213=)
c.134T= (p.Leu45=)
c.234T= (p.Pro78=)
n.442T=
n.577T=
c.243T= (p.Pro81=)
c.233T=
c.111+106T= (n.111+106T=)
c.443-3430T= (n.443-3430T=)
c.*352T= (n.*352T=)
c.216T= (p.Pro72=)
c.552T= (p.Pro184=)
6g.31933890G>ACA136929247C2c.454G>A (p.Glu152Lys)
c.271G>A (p.Glu91Lys)
c.640G>A (p.Glu214Lys)
c.135G>A (p.Leu45=)
c.235G>A (p.Glu79Lys)
n.443G>A
n.578G>A
c.244G>A (p.Glu82Lys)
c.234G>A
c.111+107G>A (n.111+107G>A)
c.443-3429G>A (n.443-3429G>A)
c.*353G>A (n.*353G>A)
c.217G>A (p.Glu73Lys)
c.553G>A (p.Glu185Lys)
 dbSNP gnomAD v2 gnomAD v4
6g.31933890G>CCA363497140C2c.454G>C (p.Glu152Gln)
c.271G>C (p.Glu91Gln)
c.640G>C (p.Glu214Gln)
c.135G>C (p.Leu45=)
c.235G>C (p.Glu79Gln)
n.443G>C
n.578G>C
c.244G>C (p.Glu82Gln)
c.234G>C
c.111+107G>C (n.111+107G>C)
c.443-3429G>C (n.443-3429G>C)
c.*353G>C (n.*353G>C)
c.217G>C (p.Glu73Gln)
c.553G>C (p.Glu185Gln)
 dbSNP gnomAD v2
6g.31933890G=CA1619369906C2c.454G= (p.Glu152=)
c.271G= (p.Glu91=)
c.640G= (p.Glu214=)
c.135G= (p.Leu45=)
c.235G= (p.Glu79=)
n.443G=
n.578G=
c.244G= (p.Glu82=)
c.234G=
c.111+107G= (n.111+107G=)
c.443-3429G= (n.443-3429G=)
c.*353G= (n.*353G=)
c.217G= (p.Glu73=)
c.553G= (p.Glu185=)
6g.31933890G>TCA363497142C2c.454G>T (p.Glu152Ter)
c.271G>T (p.Glu91Ter)
c.640G>T (p.Glu214Ter)
c.135G>T (p.Leu45=)
c.235G>T (p.Glu79Ter)
n.443G>T
n.578G>T
c.244G>T (p.Glu82Ter)
c.234G>T
c.111+107G>T (n.111+107G>T)
c.443-3429G>T (n.443-3429G>T)
c.*353G>T (n.*353G>T)
c.217G>T (p.Glu73Ter)
c.553G>T (p.Glu185Ter)
6g.31933891A>CCA363497149C2c.455A>C (p.Glu152Ala)
c.272A>C (p.Glu91Ala)
c.641A>C (p.Glu214Ala)
c.136A>C (p.Arg46=)
c.236A>C (p.Glu79Ala)
n.444A>C
n.579A>C
c.245A>C (p.Glu82Ala)
c.235A>C
c.111+108A>C (n.111+108A>C)
c.443-3428A>C (n.443-3428A>C)
c.*354A>C (n.*354A>C)
c.218A>C (p.Glu73Ala)
c.554A>C (p.Glu185Ala)
6g.31933891A>GCA363497147C2c.455A>G (p.Glu152Gly)
c.272A>G (p.Glu91Gly)
c.641A>G (p.Glu214Gly)
c.136A>G (p.Arg46Gly)
c.236A>G (p.Glu79Gly)
n.444A>G
n.579A>G
c.245A>G (p.Glu82Gly)
c.235A>G
c.111+108A>G (n.111+108A>G)
c.443-3428A>G (n.443-3428A>G)
c.*354A>G (n.*354A>G)
c.218A>G (p.Glu73Gly)
c.554A>G (p.Glu185Gly)
6g.31933891A>TCA363497146C2c.455A>T (p.Glu152Val)
c.272A>T (p.Glu91Val)
c.641A>T (p.Glu214Val)
c.136A>T (p.Arg46Trp)
c.236A>T (p.Glu79Val)
n.444A>T
n.579A>T
c.245A>T (p.Glu82Val)
c.235A>T
c.111+108A>T (n.111+108A>T)
c.443-3428A>T (n.443-3428A>T)
c.*354A>T (n.*354A>T)
c.218A>T (p.Glu73Val)
c.554A>T (p.Glu185Val)
6g.31933892G>ACA363497153C2c.456G>A (p.Glu152=)
c.273G>A (p.Glu91=)
c.642G>A (p.Glu214=)
c.137G>A (p.Arg46Lys)
c.237G>A (p.Glu79=)
n.445G>A
n.580G>A
c.246G>A (p.Glu82=)
c.236G>A
c.111+109G>A (n.111+109G>A)
c.443-3427G>A (n.443-3427G>A)
c.*355G>A (n.*355G>A)
c.219G>A (p.Glu73=)
c.555G>A (p.Glu185=)
6g.31933892G>CCA363497155C2c.456G>C (p.Glu152Asp)
c.273G>C (p.Glu91Asp)
c.642G>C (p.Glu214Asp)
c.137G>C (p.Arg46Thr)
c.237G>C (p.Glu79Asp)
n.445G>C
n.580G>C
c.246G>C (p.Glu82Asp)
c.236G>C
c.111+109G>C (n.111+109G>C)
c.443-3427G>C (n.443-3427G>C)
c.*355G>C (n.*355G>C)
c.219G>C (p.Glu73Asp)
c.555G>C (p.Glu185Asp)
6g.31933892G>TCA363497158C2c.456G>T (p.Glu152Asp)
c.273G>T (p.Glu91Asp)
c.642G>T (p.Glu214Asp)
c.137G>T (p.Arg46Met)
c.237G>T (p.Glu79Asp)
n.445G>T
n.580G>T
c.246G>T (p.Glu82Asp)
c.236G>T
c.111+109G>T (n.111+109G>T)
c.443-3427G>T (n.443-3427G>T)
c.*355G>T (n.*355G>T)
c.219G>T (p.Glu73Asp)
c.555G>T (p.Glu185Asp)
6g.31933893G>ACA363497163C2c.457G>A (p.Asp153Asn)
c.274G>A (p.Asp92Asn)
c.643G>A (p.Asp215Asn)
c.138G>A (p.Arg46=)
c.238G>A (p.Asp80Asn)
n.446G>A
n.581G>A
c.247G>A (p.Asp83Asn)
c.237G>A
c.111+110G>A (n.111+110G>A)
c.443-3426G>A (n.443-3426G>A)
c.*356G>A (n.*356G>A)
c.220G>A (p.Asp74Asn)
c.556G>A (p.Asp186Asn)
6g.31933893G>CCA363497165C2c.457G>C (p.Asp153His)
c.274G>C (p.Asp92His)
c.643G>C (p.Asp215His)
c.138G>C (p.Arg46Ser)
c.238G>C (p.Asp80His)
n.446G>C
n.581G>C
c.247G>C (p.Asp83His)
c.237G>C
c.111+110G>C (n.111+110G>C)
c.443-3426G>C (n.443-3426G>C)
c.*356G>C (n.*356G>C)
c.220G>C (p.Asp74His)
c.556G>C (p.Asp186His)
 gnomAD v4
6g.31933893G>TCA363497167C2c.457G>T (p.Asp153Tyr)
c.274G>T (p.Asp92Tyr)
c.643G>T (p.Asp215Tyr)
c.138G>T (p.Arg46Ser)
c.238G>T (p.Asp80Tyr)
n.446G>T
n.581G>T
c.247G>T (p.Asp83Tyr)
c.237G>T
c.111+110G>T (n.111+110G>T)
c.443-3426G>T (n.443-3426G>T)
c.*356G>T (n.*356G>T)
c.220G>T (p.Asp74Tyr)
c.556G>T (p.Asp186Tyr)
6g.31933894A>CCA363497176C2c.458A>C (p.Asp153Ala)
c.275A>C (p.Asp92Ala)
c.644A>C (p.Asp215Ala)
c.139A>C (p.Thr47Pro)
c.239A>C (p.Asp80Ala)
n.447A>C
n.582A>C
c.248A>C (p.Asp83Ala)
c.238A>C
c.111+111A>C (n.111+111A>C)
c.443-3425A>C (n.443-3425A>C)
c.*357A>C (n.*357A>C)
c.221A>C (p.Asp74Ala)
c.557A>C (p.Asp186Ala)
6g.31933894A>GCA363497174C2c.458A>G (p.Asp153Gly)
c.275A>G (p.Asp92Gly)
c.644A>G (p.Asp215Gly)
c.139A>G (p.Thr47Ala)
c.239A>G (p.Asp80Gly)
n.447A>G
n.582A>G
c.248A>G (p.Asp83Gly)
c.238A>G
c.111+111A>G (n.111+111A>G)
c.443-3425A>G (n.443-3425A>G)
c.*357A>G (n.*357A>G)
c.221A>G (p.Asp74Gly)
c.557A>G (p.Asp186Gly)
6g.31933894A>TCA363497171C2c.458A>T (p.Asp153Val)
c.275A>T (p.Asp92Val)
c.644A>T (p.Asp215Val)
c.139A>T (p.Thr47Ser)
c.239A>T (p.Asp80Val)
n.447A>T
n.582A>T
c.248A>T (p.Asp83Val)
c.238A>T
c.111+111A>T (n.111+111A>T)
c.443-3425A>T (n.443-3425A>T)
c.*357A>T (n.*357A>T)
c.221A>T (p.Asp74Val)
c.557A>T (p.Asp186Val)
6g.31933895C>ACA363497180C2c.459C>A (p.Asp153Glu)
c.276C>A (p.Asp92Glu)
c.645C>A (p.Asp215Glu)
c.140C>A (p.Thr47Lys)
c.240C>A (p.Asp80Glu)
n.448C>A
n.583C>A
c.249C>A (p.Asp83Glu)
c.239C>A
c.111+112C>A (n.111+112C>A)
c.443-3424C>A (n.443-3424C>A)
c.*358C>A (n.*358C>A)
c.222C>A (p.Asp74Glu)
c.558C>A (p.Asp186Glu)
 gnomAD v4
6g.31933895C=CA1619369907C2c.459C= (p.Asp153=)
c.276C= (p.Asp92=)
c.645C= (p.Asp215=)
c.140C= (p.Thr47=)
c.240C= (p.Asp80=)
n.448C=
n.583C=
c.249C= (p.Asp83=)
c.239C=
c.111+112C= (n.111+112C=)
c.443-3424C= (n.443-3424C=)
c.*358C= (n.*358C=)
c.222C= (p.Asp74=)
c.558C= (p.Asp186=)
6g.31933895C>GCA363497182C2c.459C>G (p.Asp153Glu)
c.276C>G (p.Asp92Glu)
c.645C>G (p.Asp215Glu)
c.140C>G (p.Thr47Arg)
c.240C>G (p.Asp80Glu)
n.448C>G
n.583C>G
c.249C>G (p.Asp83Glu)
c.239C>G
c.111+112C>G (n.111+112C>G)
c.443-3424C>G (n.443-3424C>G)
c.*358C>G (n.*358C>G)
c.222C>G (p.Asp74Glu)
c.558C>G (p.Asp186Glu)
6g.31933895C>TCA363497184C2c.459C>T (p.Asp153=)
c.276C>T (p.Asp92=)
c.645C>T (p.Asp215=)
c.140C>T (p.Thr47Met)
c.240C>T (p.Asp80=)
n.448C>T
n.583C>T
c.249C>T (p.Asp83=)
c.239C>T
c.111+112C>T (n.111+112C>T)
c.443-3424C>T (n.443-3424C>T)
c.*358C>T (n.*358C>T)
c.222C>T (p.Asp74=)
c.558C>T (p.Asp186=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.31933896G>ACA363497186C2c.460G>A (p.Val154Met)
c.277G>A (p.Val93Met)
c.646G>A (p.Val216Met)
c.141G>A (p.Thr47=)
c.241G>A (p.Val81Met)
n.449G>A
n.584G>A
c.250G>A (p.Val84Met)
c.240G>A
c.111+113G>A (n.111+113G>A)
c.443-3423G>A (n.443-3423G>A)
c.*359G>A (n.*359G>A)
c.223G>A (p.Val75Met)
c.559G>A (p.Val187Met)
 dbSNP gnomAD v2 gnomAD v4
6g.31933896G>CCA363497187C2c.460G>C (p.Val154Leu)
c.277G>C (p.Val93Leu)
c.646G>C (p.Val216Leu)
c.141G>C (p.Thr47=)
c.241G>C (p.Val81Leu)
n.449G>C
n.584G>C
c.250G>C (p.Val84Leu)
c.240G>C
c.111+113G>C (n.111+113G>C)
c.443-3423G>C (n.443-3423G>C)
c.*359G>C (n.*359G>C)
c.223G>C (p.Val75Leu)
c.559G>C (p.Val187Leu)
6g.31933896G=CA1619369908C2c.460G= (p.Val154=)
c.277G= (p.Val93=)
c.646G= (p.Val216=)
c.141G= (p.Thr47=)
c.241G= (p.Val81=)
n.449G=
n.584G=
c.250G= (p.Val84=)
c.240G=
c.111+113G= (n.111+113G=)
c.443-3423G= (n.443-3423G=)
c.*359G= (n.*359G=)
c.223G= (p.Val75=)
c.559G= (p.Val187=)
6g.31933896G>TCA363497190C2c.460G>T (p.Val154Leu)
c.277G>T (p.Val93Leu)
c.646G>T (p.Val216Leu)
c.141G>T (p.Thr47=)
c.241G>T (p.Val81Leu)
n.449G>T
n.584G>T
c.250G>T (p.Val84Leu)
c.240G>T
c.111+113G>T (n.111+113G>T)
c.443-3423G>T (n.443-3423G>T)
c.*359G>T (n.*359G>T)
c.223G>T (p.Val75Leu)
c.559G>T (p.Val187Leu)
6g.31933897T>ACA363497193C2c.461T>A (p.Val154Glu)
c.278T>A (p.Val93Glu)
c.647T>A (p.Val216Glu)
c.142T>A (p.Trp48Arg)
c.242T>A (p.Val81Glu)
n.450T>A
n.585T>A
c.251T>A (p.Val84Glu)
c.241T>A
c.111+114T>A (n.111+114T>A)
c.443-3422T>A (n.443-3422T>A)
c.*360T>A (n.*360T>A)
c.224T>A (p.Val75Glu)
c.560T>A (p.Val187Glu)
6g.31933897T>CCA363497197C2c.461T>C (p.Val154Ala)
c.278T>C (p.Val93Ala)
c.647T>C (p.Val216Ala)
c.142T>C (p.Trp48Arg)
c.242T>C (p.Val81Ala)
n.450T>C
n.585T>C
c.251T>C (p.Val84Ala)
c.241T>C
c.111+114T>C (n.111+114T>C)
c.443-3422T>C (n.443-3422T>C)
c.*360T>C (n.*360T>C)
c.224T>C (p.Val75Ala)
c.560T>C (p.Val187Ala)
6g.31933897T>GCA363497195C2c.461T>G (p.Val154Gly)
c.278T>G (p.Val93Gly)
c.647T>G (p.Val216Gly)
c.142T>G (p.Trp48Gly)
c.242T>G (p.Val81Gly)
n.450T>G
n.585T>G
c.251T>G (p.Val84Gly)
c.241T>G
c.111+114T>G (n.111+114T>G)
c.443-3422T>G (n.443-3422T>G)
c.*360T>G (n.*360T>G)
c.224T>G (p.Val75Gly)
c.560T>G (p.Val187Gly)
6g.31933898G>ACA363497201C2c.462G>A (p.Val154=)
c.279G>A (p.Val93=)
c.648G>A (p.Val216=)
c.143G>A (p.Trp48Ter)
c.243G>A (p.Val81=)
n.451G>A
n.586G>A
c.252G>A (p.Val84=)
c.242G>A
c.111+115G>A (n.111+115G>A)
c.443-3421G>A (n.443-3421G>A)
c.*361G>A (n.*361G>A)
c.225G>A (p.Val75=)
c.561G>A (p.Val187=)
6g.31933898G>CCA363497203C2c.462G>C (p.Val154=)
c.279G>C (p.Val93=)
c.648G>C (p.Val216=)
c.143G>C (p.Trp48Ser)
c.243G>C (p.Val81=)
n.451G>C
n.586G>C
c.252G>C (p.Val84=)
c.242G>C
c.111+115G>C (n.111+115G>C)
c.443-3421G>C (n.443-3421G>C)
c.*361G>C (n.*361G>C)
c.225G>C (p.Val75=)
c.561G>C (p.Val187=)
6g.31933898G>TCA363497206C2c.462G>T (p.Val154=)
c.279G>T (p.Val93=)
c.648G>T (p.Val216=)
c.143G>T (p.Trp48Leu)
c.243G>T (p.Val81=)
n.451G>T
n.586G>T
c.252G>T (p.Val84=)
c.242G>T
c.111+115G>T (n.111+115G>T)
c.443-3421G>T (n.443-3421G>T)
c.*361G>T (n.*361G>T)
c.225G>T (p.Val75=)
c.561G>T (p.Val187=)
6g.31933899G>ACA363497209C2c.463G>A (p.Ala155Thr)
c.280G>A (p.Ala94Thr)
c.649G>A (p.Ala217Thr)
c.144G>A (p.Trp48Ter)
c.244G>A (p.Ala82Thr)
n.452G>A
n.587G>A
c.253G>A (p.Ala85Thr)
c.243G>A
c.111+116G>A (n.111+116G>A)
c.443-3420G>A (n.443-3420G>A)
c.*362G>A (n.*362G>A)
c.226G>A (p.Ala76Thr)
c.562G>A (p.Ala188Thr)
6g.31933899G>CCA363497210C2c.463G>C (p.Ala155Pro)
c.280G>C (p.Ala94Pro)
c.649G>C (p.Ala217Pro)
c.144G>C (p.Trp48Cys)
c.244G>C (p.Ala82Pro)
n.452G>C
n.587G>C
c.253G>C (p.Ala85Pro)
c.243G>C
c.111+116G>C (n.111+116G>C)
c.443-3420G>C (n.443-3420G>C)
c.*362G>C (n.*362G>C)
c.226G>C (p.Ala76Pro)
c.562G>C (p.Ala188Pro)
6g.31933899G>TCA363497212C2c.463G>T (p.Ala155Ser)
c.280G>T (p.Ala94Ser)
c.649G>T (p.Ala217Ser)
c.144G>T (p.Trp48Cys)
c.244G>T (p.Ala82Ser)
n.452G>T
n.587G>T
c.253G>T (p.Ala85Ser)
c.243G>T
c.111+116G>T (n.111+116G>T)
c.443-3420G>T (n.443-3420G>T)
c.*362G>T (n.*362G>T)
c.226G>T (p.Ala76Ser)
c.562G>T (p.Ala188Ser)
6g.31933900C>ACA363366145C2c.464C>A (p.Ala155Asp)
c.281C>A (p.Ala94Asp)
c.650C>A (p.Ala217Asp)
c.145C>A (p.Pro49Thr)
c.245C>A (p.Ala82Asp)
n.453C>A
n.588C>A
c.254C>A (p.Ala85Asp)
c.244C>A
c.111+117C>A (n.111+117C>A)
c.443-3419C>A (n.443-3419C>A)
c.*363C>A (n.*363C>A)
c.227C>A (p.Ala76Asp)
c.563C>A (p.Ala188Asp)
6g.31933900C>GCA363366156C2c.464C>G (p.Ala155Gly)
c.281C>G (p.Ala94Gly)
c.650C>G (p.Ala217Gly)
c.145C>G (p.Pro49Ala)
c.245C>G (p.Ala82Gly)
n.453C>G
n.588C>G
c.254C>G (p.Ala85Gly)
c.244C>G
c.111+117C>G (n.111+117C>G)
c.443-3419C>G (n.443-3419C>G)
c.*363C>G (n.*363C>G)
c.227C>G (p.Ala76Gly)
c.563C>G (p.Ala188Gly)
6g.31933900C>TCA363366163C2c.464C>T (p.Ala155Val)
c.281C>T (p.Ala94Val)
c.650C>T (p.Ala217Val)
c.145C>T (p.Pro49Ser)
c.245C>T (p.Ala82Val)
n.453C>T
n.588C>T
c.254C>T (p.Ala85Val)
c.244C>T
c.111+117C>T (n.111+117C>T)
c.443-3419C>T (n.443-3419C>T)
c.*363C>T (n.*363C>T)
c.227C>T (p.Ala76Val)
c.563C>T (p.Ala188Val)
 gnomAD v4
6g.31933901C>ACA363366188C2c.465C>A (p.Ala155=)
c.282C>A (p.Ala94=)
c.651C>A (p.Ala217=)
c.146C>A (p.Pro49His)
c.246C>A (p.Ala82=)
n.454C>A
n.589C>A
c.255C>A (p.Ala85=)
c.245C>A
c.111+118C>A (n.111+118C>A)
c.443-3418C>A (n.443-3418C>A)
c.*364C>A (n.*364C>A)
c.228C>A (p.Ala76=)
c.564C>A (p.Ala188=)
6g.31933901C=CA1619369909C2c.465C= (p.Ala155=)
c.282C= (p.Ala94=)
c.651C= (p.Ala217=)
c.146C= (p.Pro49=)
c.246C= (p.Ala82=)
n.454C=
n.589C=
c.255C= (p.Ala85=)
c.245C=
c.111+118C= (n.111+118C=)
c.443-3418C= (n.443-3418C=)
c.*364C= (n.*364C=)
c.228C= (p.Ala76=)
c.564C= (p.Ala188=)
6g.31933901C>GCA363366189C2c.465C>G (p.Ala155=)
c.282C>G (p.Ala94=)
c.651C>G (p.Ala217=)
c.146C>G (p.Pro49Arg)
c.246C>G (p.Ala82=)
n.454C>G
n.589C>G
c.255C>G (p.Ala85=)
c.245C>G
c.111+118C>G (n.111+118C>G)
c.443-3418C>G (n.443-3418C>G)
c.*364C>G (n.*364C>G)
c.228C>G (p.Ala76=)
c.564C>G (p.Ala188=)
6g.31933901C>TCA363366190C2c.465C>T (p.Ala155=)
c.282C>T (p.Ala94=)
c.651C>T (p.Ala217=)
c.146C>T (p.Pro49Leu)
c.246C>T (p.Ala82=)
n.454C>T
n.589C>T
c.255C>T (p.Ala85=)
c.245C>T
c.111+118C>T (n.111+118C>T)
c.443-3418C>T (n.443-3418C>T)
c.*364C>T (n.*364C>T)
c.228C>T (p.Ala76=)
c.564C>T (p.Ala188=)
 dbSNP gnomAD v3 gnomAD v4
6g.31933902C>ACA363366201C2c.466C>A (p.Pro156Thr)
c.283C>A (p.Pro95Thr)
c.652C>A (p.Pro218Thr)
c.147C>A (p.Pro49=)
c.247C>A (p.Pro83Thr)
n.455C>A
n.590C>A
c.256C>A (p.Pro86Thr)
c.246C>A
c.111+119C>A (n.111+119C>A)
c.443-3417C>A (n.443-3417C>A)
c.*365C>A (n.*365C>A)
c.229C>A (p.Pro77Thr)
c.565C>A (p.Pro189Thr)
 gnomAD v4
6g.31933902C>GCA363366191C2c.466C>G (p.Pro156Ala)
c.283C>G (p.Pro95Ala)
c.652C>G (p.Pro218Ala)
c.147C>G (p.Pro49=)
c.247C>G (p.Pro83Ala)
n.455C>G
n.590C>G
c.256C>G (p.Pro86Ala)
c.246C>G
c.111+119C>G (n.111+119C>G)
c.443-3417C>G (n.443-3417C>G)
c.*365C>G (n.*365C>G)
c.229C>G (p.Pro77Ala)
c.565C>G (p.Pro189Ala)
6g.31933902C>TCA363366195C2c.466C>T (p.Pro156Ser)
c.283C>T (p.Pro95Ser)
c.652C>T (p.Pro218Ser)
c.147C>T (p.Pro49=)
c.247C>T (p.Pro83Ser)
n.455C>T
n.590C>T
c.256C>T (p.Pro86Ser)
c.246C>T
c.111+119C>T (n.111+119C>T)
c.443-3417C>T (n.443-3417C>T)
c.*365C>T (n.*365C>T)
c.229C>T (p.Pro77Ser)
c.565C>T (p.Pro189Ser)
6g.31933903C>ACA363366204C2c.467C>A (p.Pro156His)
c.284C>A (p.Pro95His)
c.653C>A (p.Pro218His)
c.148C>A (p.Leu50Met)
c.248C>A (p.Pro83His)
n.456C>A
n.591C>A
c.257C>A (p.Pro86His)
c.247C>A
c.111+120C>A (n.111+120C>A)
c.443-3416C>A (n.443-3416C>A)
c.*366C>A (n.*366C>A)
c.230C>A (p.Pro77His)
c.566C>A (p.Pro189His)
 gnomAD v4
6g.31933903C=CA1619369910C2c.467C= (p.Pro156=)
c.284C= (p.Pro95=)
c.653C= (p.Pro218=)
c.148C= (p.Leu50=)
c.248C= (p.Pro83=)
n.456C=
n.591C=
c.257C= (p.Pro86=)
c.247C=
c.111+120C= (n.111+120C=)
c.443-3416C= (n.443-3416C=)
c.*366C= (n.*366C=)
c.230C= (p.Pro77=)
c.566C= (p.Pro189=)
6g.31933903C>GCA363366206C2c.467C>G (p.Pro156Arg)
c.284C>G (p.Pro95Arg)
c.653C>G (p.Pro218Arg)
c.148C>G (p.Leu50Val)
c.248C>G (p.Pro83Arg)
n.456C>G
n.591C>G
c.257C>G (p.Pro86Arg)
c.247C>G
c.111+120C>G (n.111+120C>G)
c.443-3416C>G (n.443-3416C>G)
c.*366C>G (n.*366C>G)
c.230C>G (p.Pro77Arg)
c.566C>G (p.Pro189Arg)
 dbSNP
6g.31933903C>TCA363366205C2c.467C>T (p.Pro156Leu)
c.284C>T (p.Pro95Leu)
c.653C>T (p.Pro218Leu)
c.148C>T (p.Leu50=)
c.248C>T (p.Pro83Leu)
n.456C>T
n.591C>T
c.257C>T (p.Pro86Leu)
c.247C>T
c.111+120C>T (n.111+120C>T)
c.443-3416C>T (n.443-3416C>T)
c.*366C>T (n.*366C>T)
c.230C>T (p.Pro77Leu)
c.566C>T (p.Pro189Leu)
6g.31933904T>ACA363366210C2c.468T>A (p.Pro156=)
c.285T>A (p.Pro95=)
c.654T>A (p.Pro218=)
c.149T>A (p.Leu50Gln)
c.249T>A (p.Pro83=)
n.457T>A
n.592T>A
c.258T>A (p.Pro86=)
c.248T>A
c.111+121T>A (n.111+121T>A)
c.443-3415T>A (n.443-3415T>A)
c.*367T>A (n.*367T>A)
c.231T>A (p.Pro77=)
c.567T>A (p.Pro189=)
6g.31933904T>CCA363366216C2c.468T>C (p.Pro156=)
c.285T>C (p.Pro95=)
c.654T>C (p.Pro218=)
c.149T>C (p.Leu50Pro)
c.249T>C (p.Pro83=)
n.457T>C
n.592T>C
c.258T>C (p.Pro86=)
c.248T>C
c.111+121T>C (n.111+121T>C)
c.443-3415T>C (n.443-3415T>C)
c.*367T>C (n.*367T>C)
c.231T>C (p.Pro77=)
c.567T>C (p.Pro189=)
6g.31933904T>GCA363366218C2c.468T>G (p.Pro156=)
c.285T>G (p.Pro95=)
c.654T>G (p.Pro218=)
c.149T>G (p.Leu50Arg)
c.249T>G (p.Pro83=)
n.457T>G
n.592T>G
c.258T>G (p.Pro86=)
c.248T>G
c.111+121T>G (n.111+121T>G)
c.443-3415T>G (n.443-3415T>G)
c.*367T>G (n.*367T>G)
c.231T>G (p.Pro77=)
c.567T>G (p.Pro189=)
 COSMIC
6g.31933905G>ACA363366223C2c.469G>A (p.Ala157Thr)
c.286G>A (p.Ala96Thr)
c.655G>A (p.Ala219Thr)
c.150G>A (p.Leu50=)
c.250G>A (p.Ala84Thr)
n.458G>A
n.593G>A
c.259G>A (p.Ala87Thr)
c.249G>A
c.111+122G>A (n.111+122G>A)
c.443-3414G>A (n.443-3414G>A)
c.*368G>A (n.*368G>A)
c.232G>A (p.Ala78Thr)
c.568G>A (p.Ala190Thr)
 gnomAD v4
6g.31933905G>CCA363366232C2c.469G>C (p.Ala157Pro)
c.286G>C (p.Ala96Pro)
c.655G>C (p.Ala219Pro)
c.150G>C (p.Leu50=)
c.250G>C (p.Ala84Pro)
n.458G>C
n.593G>C
c.259G>C (p.Ala87Pro)
c.249G>C
c.111+122G>C (n.111+122G>C)
c.443-3414G>C (n.443-3414G>C)
c.*368G>C (n.*368G>C)
c.232G>C (p.Ala78Pro)
c.568G>C (p.Ala190Pro)
6g.31933905G>TCA363366235C2c.469G>T (p.Ala157Ser)
c.286G>T (p.Ala96Ser)
c.655G>T (p.Ala219Ser)
c.150G>T (p.Leu50=)
c.250G>T (p.Ala84Ser)
n.458G>T
n.593G>T
c.259G>T (p.Ala87Ser)
c.249G>T
c.111+122G>T (n.111+122G>T)
c.443-3414G>T (n.443-3414G>T)
c.*368G>T (n.*368G>T)
c.232G>T (p.Ala78Ser)
c.568G>T (p.Ala190Ser)
6g.31933906C>ACA3727460C2c.470C>A (p.Ala157Asp)
c.287C>A (p.Ala96Asp)
c.656C>A (p.Ala219Asp)
c.151C>A (p.Pro51Thr)
c.251C>A (p.Ala84Asp)
n.459C>A
n.594C>A
c.260C>A (p.Ala87Asp)
c.250C>A
c.111+123C>A (n.111+123C>A)
c.443-3413C>A (n.443-3413C>A)
c.*369C>A (n.*369C>A)
c.233C>A (p.Ala78Asp)
c.569C>A (p.Ala190Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31933906C=CA1619369911C2c.470C= (p.Ala157=)
c.287C= (p.Ala96=)
c.656C= (p.Ala219=)
c.151C= (p.Pro51=)
c.251C= (p.Ala84=)
n.459C=
n.594C=
c.260C= (p.Ala87=)
c.250C=
c.111+123C= (n.111+123C=)
c.443-3413C= (n.443-3413C=)
c.*369C= (n.*369C=)
c.233C= (p.Ala78=)
c.569C= (p.Ala190=)
6g.31933906C>GCA363366236C2c.470C>G (p.Ala157Gly)
c.287C>G (p.Ala96Gly)
c.656C>G (p.Ala219Gly)
c.151C>G (p.Pro51Ala)
c.251C>G (p.Ala84Gly)
n.459C>G
n.594C>G
c.260C>G (p.Ala87Gly)
c.250C>G
c.111+123C>G (n.111+123C>G)
c.443-3413C>G (n.443-3413C>G)
c.*369C>G (n.*369C>G)
c.233C>G (p.Ala78Gly)
c.569C>G (p.Ala190Gly)
6g.31933906C>TCA363366237C2c.470C>T (p.Ala157Val)
c.287C>T (p.Ala96Val)
c.656C>T (p.Ala219Val)
c.151C>T (p.Pro51Ser)
c.251C>T (p.Ala84Val)
n.459C>T
n.594C>T
c.260C>T (p.Ala87Val)
c.250C>T
c.111+123C>T (n.111+123C>T)
c.443-3413C>T (n.443-3413C>T)
c.*369C>T (n.*369C>T)
c.233C>T (p.Ala78Val)
c.569C>T (p.Ala190Val)
 gnomAD v4
6g.31933907C>ACA363366239C2c.471C>A (p.Ala157=)
c.288C>A (p.Ala96=)
c.657C>A (p.Ala219=)
c.152C>A (p.Pro51His)
c.252C>A (p.Ala84=)
n.460C>A
n.595C>A
c.261C>A (p.Ala87=)
c.251C>A
c.111+124C>A (n.111+124C>A)
c.443-3412C>A (n.443-3412C>A)
c.*370C>A (n.*370C>A)
c.234C>A (p.Ala78=)
c.570C>A (p.Ala190=)
6g.31933907C>GCA363366241C2c.471C>G (p.Ala157=)
c.288C>G (p.Ala96=)
c.657C>G (p.Ala219=)
c.152C>G (p.Pro51Arg)
c.252C>G (p.Ala84=)
n.460C>G
n.595C>G
c.261C>G (p.Ala87=)
c.251C>G
c.111+124C>G (n.111+124C>G)
c.443-3412C>G (n.443-3412C>G)
c.*370C>G (n.*370C>G)
c.234C>G (p.Ala78=)
c.570C>G (p.Ala190=)
6g.31933907C>TCA363366244C2c.471C>T (p.Ala157=)
c.288C>T (p.Ala96=)
c.657C>T (p.Ala219=)
c.152C>T (p.Pro51Leu)
c.252C>T (p.Ala84=)
n.460C>T
n.595C>T
c.261C>T (p.Ala87=)
c.251C>T
c.111+124C>T (n.111+124C>T)
c.443-3412C>T (n.443-3412C>T)
c.*370C>T (n.*370C>T)
c.234C>T (p.Ala78=)
c.570C>T (p.Ala190=)
 gnomAD v4
6g.31933908C>ACA363366246C2c.472C>A (p.Leu158Met)
c.289C>A (p.Leu97Met)
c.658C>A (p.Leu220Met)
c.153C>A (p.Pro51=)
c.253C>A (p.Leu85Met)
n.461C>A
n.596C>A
c.262C>A (p.Leu88Met)
c.252C>A
c.111+125C>A (n.111+125C>A)
c.443-3411C>A (n.443-3411C>A)
c.*371C>A (n.*371C>A)
c.235C>A (p.Leu79Met)
c.571C>A (p.Leu191Met)
 gnomAD v4
6g.31933908C>GCA363366247C2c.472C>G (p.Leu158Val)
c.289C>G (p.Leu97Val)
c.658C>G (p.Leu220Val)
c.153C>G (p.Pro51=)
c.253C>G (p.Leu85Val)
n.461C>G
n.596C>G
c.262C>G (p.Leu88Val)
c.252C>G
c.111+125C>G (n.111+125C>G)
c.443-3411C>G (n.443-3411C>G)
c.*371C>G (n.*371C>G)
c.235C>G (p.Leu79Val)
c.571C>G (p.Leu191Val)
6g.31933908C>TCA449811373C2c.472C>T (p.Leu158=)
c.289C>T (p.Leu97=)
c.658C>T (p.Leu220=)
c.153C>T (p.Pro51=)
c.253C>T (p.Leu85=)
n.461C>T
n.596C>T
c.262C>T (p.Leu88=)
c.252C>T
c.111+125C>T (n.111+125C>T)
c.443-3411C>T (n.443-3411C>T)
c.*371C>T (n.*371C>T)
c.235C>T (p.Leu79=)
c.571C>T (p.Leu191=)
6g.31933909T>ACA363366248C2c.473T>A (p.Leu158Gln)
c.290T>A (p.Leu97Gln)
c.659T>A (p.Leu220Gln)
c.154T>A (p.Trp52Arg)
c.254T>A (p.Leu85Gln)
n.462T>A
n.597T>A
c.263T>A (p.Leu88Gln)
c.253T>A
c.111+126T>A (n.111+126T>A)
c.443-3410T>A (n.443-3410T>A)
c.*372T>A (n.*372T>A)
c.236T>A (p.Leu79Gln)
c.572T>A (p.Leu191Gln)
6g.31933909T>CCA363366249C2c.473T>C (p.Leu158Pro)
c.290T>C (p.Leu97Pro)
c.659T>C (p.Leu220Pro)
c.154T>C (p.Trp52Arg)
c.254T>C (p.Leu85Pro)
n.462T>C
n.597T>C
c.263T>C (p.Leu88Pro)
c.253T>C
c.111+126T>C (n.111+126T>C)
c.443-3410T>C (n.443-3410T>C)
c.*372T>C (n.*372T>C)
c.236T>C (p.Leu79Pro)
c.572T>C (p.Leu191Pro)
6g.31933909T>GCA363366253C2c.473T>G (p.Leu158Arg)
c.290T>G (p.Leu97Arg)
c.659T>G (p.Leu220Arg)
c.154T>G (p.Trp52Gly)
c.254T>G (p.Leu85Arg)
n.462T>G
n.597T>G
c.263T>G (p.Leu88Arg)
c.253T>G
c.111+126T>G (n.111+126T>G)
c.443-3410T>G (n.443-3410T>G)
c.*372T>G (n.*372T>G)
c.236T>G (p.Leu79Arg)
c.572T>G (p.Leu191Arg)
6g.31933910G>ACA363366259C2c.474G>A (p.Leu158=)
c.291G>A (p.Leu97=)
c.660G>A (p.Leu220=)
c.155G>A (p.Trp52Ter)
c.255G>A (p.Leu85=)
n.463G>A
n.598G>A
c.264G>A (p.Leu88=)
c.254G>A
c.111+127G>A (n.111+127G>A)
c.443-3409G>A (n.443-3409G>A)
c.*373G>A (n.*373G>A)
c.237G>A (p.Leu79=)
c.573G>A (p.Leu191=)
6g.31933910G>CCA363366261C2c.474G>C (p.Leu158=)
c.291G>C (p.Leu97=)
c.660G>C (p.Leu220=)
c.155G>C (p.Trp52Ser)
c.255G>C (p.Leu85=)
n.463G>C
n.598G>C
c.264G>C (p.Leu88=)
c.254G>C
c.111+127G>C (n.111+127G>C)
c.443-3409G>C (n.443-3409G>C)
c.*373G>C (n.*373G>C)
c.237G>C (p.Leu79=)
c.573G>C (p.Leu191=)
 dbSNP gnomAD v2 gnomAD v4
6g.31933910G=CA1619369912C2c.474G= (p.Leu158=)
c.291G= (p.Leu97=)
c.660G= (p.Leu220=)
c.155G= (p.Trp52=)
c.255G= (p.Leu85=)
n.463G=
n.598G=
c.264G= (p.Leu88=)
c.254G=
c.111+127G= (n.111+127G=)
c.443-3409G= (n.443-3409G=)
c.*373G= (n.*373G=)
c.237G= (p.Leu79=)
c.573G= (p.Leu191=)
6g.31933910G>TCA363366291C2c.474G>T (p.Leu158=)
c.291G>T (p.Leu97=)
c.660G>T (p.Leu220=)
c.155G>T (p.Trp52Leu)
c.255G>T (p.Leu85=)
n.463G>T
n.598G>T
c.264G>T (p.Leu88=)
c.254G>T
c.111+127G>T (n.111+127G>T)
c.443-3409G>T (n.443-3409G>T)
c.*373G>T (n.*373G>T)
c.237G>T (p.Leu79=)
c.573G>T (p.Leu191=)
6g.31933911G>ACA3727461C2c.475G>A (p.Gly159Ser)
c.292G>A (p.Gly98Ser)
c.661G>A (p.Gly221Ser)
c.156G>A (p.Trp52Ter)
c.256G>A (p.Gly86Ser)
n.464G>A
n.599G>A
c.265G>A (p.Gly89Ser)
c.255G>A
c.111+128G>A (n.111+128G>A)
c.443-3408G>A (n.443-3408G>A)
c.*374G>A (n.*374G>A)
c.238G>A (p.Gly80Ser)
c.574G>A (p.Gly192Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31933911G>CCA363366297C2c.475G>C (p.Gly159Arg)
c.292G>C (p.Gly98Arg)
c.661G>C (p.Gly221Arg)
c.156G>C (p.Trp52Cys)
c.256G>C (p.Gly86Arg)
n.464G>C
n.599G>C
c.265G>C (p.Gly89Arg)
c.255G>C
c.111+128G>C (n.111+128G>C)
c.443-3408G>C (n.443-3408G>C)
c.*374G>C (n.*374G>C)
c.238G>C (p.Gly80Arg)
c.574G>C (p.Gly192Arg)
6g.31933911G=CA1619369913C2c.475G= (p.Gly159=)
c.292G= (p.Gly98=)
c.661G= (p.Gly221=)
c.156G= (p.Trp52=)
c.256G= (p.Gly86=)
n.464G=
n.599G=
c.265G= (p.Gly89=)
c.255G=
c.111+128G= (n.111+128G=)
c.443-3408G= (n.443-3408G=)
c.*374G= (n.*374G=)
c.238G= (p.Gly80=)
c.574G= (p.Gly192=)
6g.31933911G>TCA363366298C2c.475G>T (p.Gly159Cys)
c.292G>T (p.Gly98Cys)
c.661G>T (p.Gly221Cys)
c.156G>T (p.Trp52Cys)
c.256G>T (p.Gly86Cys)
n.464G>T
n.599G>T
c.265G>T (p.Gly89Cys)
c.255G>T
c.111+128G>T (n.111+128G>T)
c.443-3408G>T (n.443-3408G>T)
c.*374G>T (n.*374G>T)
c.238G>T (p.Gly80Cys)
c.574G>T (p.Gly192Cys)
6g.31933912G>ACA363366300C2c.476G>A (p.Gly159Asp)
c.293G>A (p.Gly98Asp)
c.662G>A (p.Gly221Asp)
c.157G>A (p.Ala53Thr)
c.257G>A (p.Gly86Asp)
n.465G>A
n.600G>A
c.266G>A (p.Gly89Asp)
c.256G>A
c.111+129G>A (n.111+129G>A)
c.443-3407G>A (n.443-3407G>A)
c.*375G>A (n.*375G>A)
c.239G>A (p.Gly80Asp)
c.575G>A (p.Gly192Asp)
6g.31933912G>CCA363366302C2c.476G>C (p.Gly159Ala)
c.293G>C (p.Gly98Ala)
c.662G>C (p.Gly221Ala)
c.157G>C (p.Ala53Pro)
c.257G>C (p.Gly86Ala)
n.465G>C
n.600G>C
c.266G>C (p.Gly89Ala)
c.256G>C
c.111+129G>C (n.111+129G>C)
c.443-3407G>C (n.443-3407G>C)
c.*375G>C (n.*375G>C)
c.239G>C (p.Gly80Ala)
c.575G>C (p.Gly192Ala)
6g.31933912G>TCA363366306C2c.476G>T (p.Gly159Val)
c.293G>T (p.Gly98Val)
c.662G>T (p.Gly221Val)
c.157G>T (p.Ala53Ser)
c.257G>T (p.Gly86Val)
n.465G>T
n.600G>T
c.266G>T (p.Gly89Val)
c.256G>T
c.111+129G>T (n.111+129G>T)
c.443-3407G>T (n.443-3407G>T)
c.*375G>T (n.*375G>T)
c.239G>T (p.Gly80Val)
c.575G>T (p.Gly192Val)
6g.31933913C>ACA363366315C2c.477C>A (p.Gly159=)
c.294C>A (p.Gly98=)
c.663C>A (p.Gly221=)
c.158C>A (p.Ala53Glu)
c.258C>A (p.Gly86=)
n.466C>A
n.601C>A
c.267C>A (p.Gly89=)
c.257C>A
c.111+130C>A (n.111+130C>A)
c.443-3406C>A (n.443-3406C>A)
c.*376C>A (n.*376C>A)
c.240C>A (p.Gly80=)
c.576C>A (p.Gly192=)
6g.31933913C>GCA363366317C2c.477C>G (p.Gly159=)
c.294C>G (p.Gly98=)
c.663C>G (p.Gly221=)
c.158C>G (p.Ala53Gly)
c.258C>G (p.Gly86=)
n.466C>G
n.601C>G
c.267C>G (p.Gly89=)
c.257C>G
c.111+130C>G (n.111+130C>G)
c.443-3406C>G (n.443-3406C>G)
c.*376C>G (n.*376C>G)
c.240C>G (p.Gly80=)
c.576C>G (p.Gly192=)
6g.31933913C>TCA363366316C2c.477C>T (p.Gly159=)
c.294C>T (p.Gly98=)
c.663C>T (p.Gly221=)
c.158C>T (p.Ala53Val)
c.258C>T (p.Gly86=)
n.466C>T
n.601C>T
c.267C>T (p.Gly89=)
c.257C>T
c.111+130C>T (n.111+130C>T)
c.443-3406C>T (n.443-3406C>T)
c.*376C>T (n.*376C>T)
c.240C>T (p.Gly80=)
c.576C>T (p.Gly192=)
6g.31933914A=CA1619369914C2c.478A= (p.Thr160=)
c.295A= (p.Thr99=)
c.664A= (p.Thr222=)
c.159A= (p.Ala53=)
c.259A= (p.Thr87=)
n.467A=
n.602A=
c.268A= (p.Thr90=)
c.258A=
c.111+131A= (n.111+131A=)
c.443-3405A= (n.443-3405A=)
c.*377A= (n.*377A=)
c.241A= (p.Thr81=)
c.577A= (p.Thr193=)
6g.31933914A>CCA363366318C2c.478A>C (p.Thr160Pro)
c.295A>C (p.Thr99Pro)
c.664A>C (p.Thr222Pro)
c.159A>C (p.Ala53=)
c.259A>C (p.Thr87Pro)
n.467A>C
n.602A>C
c.268A>C (p.Thr90Pro)
c.258A>C
c.111+131A>C (n.111+131A>C)
c.443-3405A>C (n.443-3405A>C)
c.*377A>C (n.*377A>C)
c.241A>C (p.Thr81Pro)
c.577A>C (p.Thr193Pro)
 gnomAD v4
6g.31933914A>GCA3727462C2c.478A>G (p.Thr160Ala)
c.295A>G (p.Thr99Ala)
c.664A>G (p.Thr222Ala)
c.159A>G (p.Ala53=)
c.259A>G (p.Thr87Ala)
n.467A>G
n.602A>G
c.268A>G (p.Thr90Ala)
c.258A>G
c.111+131A>G (n.111+131A>G)
c.443-3405A>G (n.443-3405A>G)
c.*377A>G (n.*377A>G)
c.241A>G (p.Thr81Ala)
c.577A>G (p.Thr193Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31933914A>TCA363366322C2c.478A>T (p.Thr160Ser)
c.295A>T (p.Thr99Ser)
c.664A>T (p.Thr222Ser)
c.159A>T (p.Ala53=)
c.259A>T (p.Thr87Ser)
n.467A>T
n.602A>T
c.268A>T (p.Thr90Ser)
c.258A>T
c.111+131A>T (n.111+131A>T)
c.443-3405A>T (n.443-3405A>T)
c.*377A>T (n.*377A>T)
c.241A>T (p.Thr81Ser)
c.577A>T (p.Thr193Ser)
6g.31933915C>ACA363366323C2c.479C>A (p.Thr160Asn)
c.296C>A (p.Thr99Asn)
c.665C>A (p.Thr222Asn)
c.160C>A (p.Leu54Ile)
c.260C>A (p.Thr87Asn)
n.468C>A
n.603C>A
c.269C>A (p.Thr90Asn)
c.259C>A
c.111+132C>A (n.111+132C>A)
c.443-3404C>A (n.443-3404C>A)
c.*378C>A (n.*378C>A)
c.242C>A (p.Thr81Asn)
c.578C>A (p.Thr193Asn)
6g.31933915C=CA1619369915C2c.479C= (p.Thr160=)
c.296C= (p.Thr99=)
c.665C= (p.Thr222=)
c.160C= (p.Leu54=)
c.260C= (p.Thr87=)
n.468C=
n.603C=
c.269C= (p.Thr90=)
c.259C=
c.111+132C= (n.111+132C=)
c.443-3404C= (n.443-3404C=)
c.*378C= (n.*378C=)
c.242C= (p.Thr81=)
c.578C= (p.Thr193=)
6g.31933915C>GCA363366324C2c.479C>G (p.Thr160Ser)
c.296C>G (p.Thr99Ser)
c.665C>G (p.Thr222Ser)
c.160C>G (p.Leu54Val)
c.260C>G (p.Thr87Ser)
n.468C>G
n.603C>G
c.269C>G (p.Thr90Ser)
c.259C>G
c.111+132C>G (n.111+132C>G)
c.443-3404C>G (n.443-3404C>G)
c.*378C>G (n.*378C>G)
c.242C>G (p.Thr81Ser)
c.578C>G (p.Thr193Ser)
6g.31933915C>TCA3727463C2c.479C>T (p.Thr160Ile)
c.296C>T (p.Thr99Ile)
c.665C>T (p.Thr222Ile)
c.160C>T (p.Leu54Phe)
c.260C>T (p.Thr87Ile)
n.468C>T
n.603C>T
c.269C>T (p.Thr90Ile)
c.259C>T
c.111+132C>T (n.111+132C>T)
c.443-3404C>T (n.443-3404C>T)
c.*378C>T (n.*378C>T)
c.242C>T (p.Thr81Ile)
c.578C>T (p.Thr193Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31933916T>ACA363366329C2c.480T>A (p.Thr160=)
c.297T>A (p.Thr99=)
c.666T>A (p.Thr222=)
c.161T>A (p.Leu54His)
c.261T>A (p.Thr87=)
n.469T>A
n.604T>A
c.270T>A (p.Thr90=)
c.260T>A
c.111+133T>A (n.111+133T>A)
c.443-3403T>A (n.443-3403T>A)
c.*379T>A (n.*379T>A)
c.243T>A (p.Thr81=)
c.579T>A (p.Thr193=)
6g.31933916T>CCA363366331C2c.480T>C (p.Thr160=)
c.297T>C (p.Thr99=)
c.666T>C (p.Thr222=)
c.161T>C (p.Leu54Pro)
c.261T>C (p.Thr87=)
n.469T>C
n.604T>C
c.270T>C (p.Thr90=)
c.260T>C
c.111+133T>C (n.111+133T>C)
c.443-3403T>C (n.443-3403T>C)
c.*379T>C (n.*379T>C)
c.243T>C (p.Thr81=)
c.579T>C (p.Thr193=)
 dbSNP gnomAD v2 gnomAD v4
6g.31933916T>GCA363366332C2c.480T>G (p.Thr160=)
c.297T>G (p.Thr99=)
c.666T>G (p.Thr222=)
c.161T>G (p.Leu54Arg)
c.261T>G (p.Thr87=)
n.469T>G
n.604T>G
c.270T>G (p.Thr90=)
c.260T>G
c.111+133T>G (n.111+133T>G)
c.443-3403T>G (n.443-3403T>G)
c.*379T>G (n.*379T>G)
c.243T>G (p.Thr81=)
c.579T>G (p.Thr193=)
6g.31933916T=CA1619369916C2c.480T= (p.Thr160=)
c.297T= (p.Thr99=)
c.666T= (p.Thr222=)
c.161T= (p.Leu54=)
c.261T= (p.Thr87=)
n.469T=
n.604T=
c.270T= (p.Thr90=)
c.260T=
c.111+133T= (n.111+133T=)
c.443-3403T= (n.443-3403T=)
c.*379T= (n.*379T=)
c.243T= (p.Thr81=)
c.579T= (p.Thr193=)
6g.31933917T>ACA363366338C2c.481T>A (p.Ser161Thr)
c.298T>A (p.Ser100Thr)
c.667T>A (p.Ser223Thr)
c.162T>A (p.Leu54=)
c.262T>A (p.Ser88Thr)
n.470T>A
n.605T>A
c.271T>A (p.Ser91Thr)
c.261T>A
c.111+134T>A (n.111+134T>A)
c.443-3402T>A (n.443-3402T>A)
c.*380T>A (n.*380T>A)
c.244T>A (p.Ser82Thr)
c.580T>A (p.Ser194Thr)
6g.31933917T>CCA363366341C2c.481T>C (p.Ser161Pro)
c.298T>C (p.Ser100Pro)
c.667T>C (p.Ser223Pro)
c.162T>C (p.Leu54=)
c.262T>C (p.Ser88Pro)
n.470T>C
n.605T>C
c.271T>C (p.Ser91Pro)
c.261T>C
c.111+134T>C (n.111+134T>C)
c.443-3402T>C (n.443-3402T>C)
c.*380T>C (n.*380T>C)
c.244T>C (p.Ser82Pro)
c.580T>C (p.Ser194Pro)
6g.31933917T>GCA363366345C2c.481T>G (p.Ser161Ala)
c.298T>G (p.Ser100Ala)
c.667T>G (p.Ser223Ala)
c.162T>G (p.Leu54=)
c.262T>G (p.Ser88Ala)
n.470T>G
n.605T>G
c.271T>G (p.Ser91Ala)
c.261T>G
c.111+134T>G (n.111+134T>G)
c.443-3402T>G (n.443-3402T>G)
c.*380T>G (n.*380T>G)
c.244T>G (p.Ser82Ala)
c.580T>G (p.Ser194Ala)
6g.31933918C>ACA363366351C2c.482C>A (p.Ser161Tyr)
c.299C>A (p.Ser100Tyr)
c.668C>A (p.Ser223Tyr)
c.163C>A (p.Pro55Thr)
c.263C>A (p.Ser88Tyr)
n.471C>A
n.606C>A
c.272C>A (p.Ser91Tyr)
c.262C>A
c.111+135C>A (n.111+135C>A)
c.443-3401C>A (n.443-3401C>A)
c.*381C>A (n.*381C>A)
c.245C>A (p.Ser82Tyr)
c.581C>A (p.Ser194Tyr)
6g.31933918C>GCA363366353C2c.482C>G (p.Ser161Cys)
c.299C>G (p.Ser100Cys)
c.668C>G (p.Ser223Cys)
c.163C>G (p.Pro55Ala)
c.263C>G (p.Ser88Cys)
n.471C>G
n.606C>G
c.272C>G (p.Ser91Cys)
c.262C>G
c.111+135C>G (n.111+135C>G)
c.443-3401C>G (n.443-3401C>G)
c.*381C>G (n.*381C>G)
c.245C>G (p.Ser82Cys)
c.581C>G (p.Ser194Cys)
6g.31933918C>TCA363366358C2c.482C>T (p.Ser161Phe)
c.299C>T (p.Ser100Phe)
c.668C>T (p.Ser223Phe)
c.163C>T (p.Pro55Ser)
c.263C>T (p.Ser88Phe)
n.471C>T
n.606C>T
c.272C>T (p.Ser91Phe)
c.262C>T
c.111+135C>T (n.111+135C>T)
c.443-3401C>T (n.443-3401C>T)
c.*381C>T (n.*381C>T)
c.245C>T (p.Ser82Phe)
c.581C>T (p.Ser194Phe)
 COSMIC
6g.31933919C>ACA363366359C2c.483C>A (p.Ser161=)
c.300C>A (p.Ser100=)
c.669C>A (p.Ser223=)
c.164C>A (p.Pro55His)
c.264C>A (p.Ser88=)
n.472C>A
n.607C>A
c.273C>A (p.Ser91=)
c.263C>A
c.111+136C>A (n.111+136C>A)
c.443-3400C>A (n.443-3400C>A)
c.*382C>A (n.*382C>A)
c.246C>A (p.Ser82=)
c.582C>A (p.Ser194=)
6g.31933919C>GCA363366360C2c.483C>G (p.Ser161=)
c.300C>G (p.Ser100=)
c.669C>G (p.Ser223=)
c.164C>G (p.Pro55Arg)
c.264C>G (p.Ser88=)
n.472C>G
n.607C>G
c.273C>G (p.Ser91=)
c.263C>G
c.111+136C>G (n.111+136C>G)
c.443-3400C>G (n.443-3400C>G)
c.*382C>G (n.*382C>G)
c.246C>G (p.Ser82=)
c.582C>G (p.Ser194=)
6g.31933919C>TCA363366361C2c.483C>T (p.Ser161=)
c.300C>T (p.Ser100=)
c.669C>T (p.Ser223=)
c.164C>T (p.Pro55Leu)
c.264C>T (p.Ser88=)
n.472C>T
n.607C>T
c.273C>T (p.Ser91=)
c.263C>T
c.111+136C>T (n.111+136C>T)
c.443-3400C>T (n.443-3400C>T)
c.*382C>T (n.*382C>T)
c.246C>T (p.Ser82=)
c.582C>T (p.Ser194=)
 gnomAD v4
6g.31933920T>ACA363366362C2c.484T>A (p.Phe162Ile)
c.301T>A (p.Phe101Ile)
c.670T>A (p.Phe224Ile)
c.165T>A (p.Pro55=)
c.265T>A (p.Phe89Ile)
n.473T>A
n.608T>A
c.274T>A (p.Phe92Ile)
c.264T>A
c.111+137T>A (n.111+137T>A)
c.443-3399T>A (n.443-3399T>A)
c.*383T>A (n.*383T>A)
c.247T>A (p.Phe83Ile)
c.583T>A (p.Phe195Ile)
6g.31933920T>CCA363366366C2c.484T>C (p.Phe162Leu)
c.301T>C (p.Phe101Leu)
c.670T>C (p.Phe224Leu)
c.165T>C (p.Pro55=)
c.265T>C (p.Phe89Leu)
n.473T>C
n.608T>C
c.274T>C (p.Phe92Leu)
c.264T>C
c.111+137T>C (n.111+137T>C)
c.443-3399T>C (n.443-3399T>C)
c.*383T>C (n.*383T>C)
c.247T>C (p.Phe83Leu)
c.583T>C (p.Phe195Leu)
6g.31933920T>GCA363366363C2c.484T>G (p.Phe162Val)
c.301T>G (p.Phe101Val)
c.670T>G (p.Phe224Val)
c.165T>G (p.Pro55=)
c.265T>G (p.Phe89Val)
n.473T>G
n.608T>G
c.274T>G (p.Phe92Val)
c.264T>G
c.111+137T>G (n.111+137T>G)
c.443-3399T>G (n.443-3399T>G)
c.*383T>G (n.*383T>G)
c.247T>G (p.Phe83Val)
c.583T>G (p.Phe195Val)
6g.31933921T>ACA363366368C2c.485T>A (p.Phe162Tyr)
c.302T>A (p.Phe101Tyr)
c.671T>A (p.Phe224Tyr)
c.166T>A (p.Ser56Thr)
c.266T>A (p.Phe89Tyr)
n.474T>A
n.609T>A
c.275T>A (p.Phe92Tyr)
c.265T>A
c.111+138T>A (n.111+138T>A)
c.443-3398T>A (n.443-3398T>A)
c.*384T>A (n.*384T>A)
c.248T>A (p.Phe83Tyr)
c.584T>A (p.Phe195Tyr)
6g.31933921T>CCA363366370C2c.485T>C (p.Phe162Ser)
c.302T>C (p.Phe101Ser)
c.671T>C (p.Phe224Ser)
c.166T>C (p.Ser56Pro)
c.266T>C (p.Phe89Ser)
n.474T>C
n.609T>C
c.275T>C (p.Phe92Ser)
c.265T>C
c.111+138T>C (n.111+138T>C)
c.443-3398T>C (n.443-3398T>C)
c.*384T>C (n.*384T>C)
c.248T>C (p.Phe83Ser)
c.584T>C (p.Phe195Ser)
6g.31933921T>GCA363366372C2c.485T>G (p.Phe162Cys)
c.302T>G (p.Phe101Cys)
c.671T>G (p.Phe224Cys)
c.166T>G (p.Ser56Ala)
c.266T>G (p.Phe89Cys)
n.474T>G
n.609T>G
c.275T>G (p.Phe92Cys)
c.265T>G
c.111+138T>G (n.111+138T>G)
c.443-3398T>G (n.443-3398T>G)
c.*384T>G (n.*384T>G)
c.248T>G (p.Phe83Cys)
c.584T>G (p.Phe195Cys)
6g.31933922C>ACA363366374C2c.486C>A (p.Phe162Leu)
c.303C>A (p.Phe101Leu)
c.672C>A (p.Phe224Leu)
c.167C>A (p.Ser56Tyr)
c.267C>A (p.Phe89Leu)
n.475C>A
n.610C>A
c.276C>A (p.Phe92Leu)
c.266C>A
c.111+139C>A (n.111+139C>A)
c.443-3397C>A (n.443-3397C>A)
c.*385C>A (n.*385C>A)
c.249C>A (p.Phe83Leu)
c.585C>A (p.Phe195Leu)
6g.31933922C=CA1619369917C2c.486C= (p.Phe162=)
c.303C= (p.Phe101=)
c.672C= (p.Phe224=)
c.167C= (p.Ser56=)
c.267C= (p.Phe89=)
n.475C=
n.610C=
c.276C= (p.Phe92=)
c.266C=
c.111+139C= (n.111+139C=)
c.443-3397C= (n.443-3397C=)
c.*385C= (n.*385C=)
c.249C= (p.Phe83=)
c.585C= (p.Phe195=)
6g.31933922C>GCA363366377C2c.486C>G (p.Phe162Leu)
c.303C>G (p.Phe101Leu)
c.672C>G (p.Phe224Leu)
c.167C>G (p.Ser56Cys)
c.267C>G (p.Phe89Leu)
n.475C>G
n.610C>G
c.276C>G (p.Phe92Leu)
c.266C>G
c.111+139C>G (n.111+139C>G)
c.443-3397C>G (n.443-3397C>G)
c.*385C>G (n.*385C>G)
c.249C>G (p.Phe83Leu)
c.585C>G (p.Phe195Leu)
6g.31933922C>TCA3727464C2c.486C>T (p.Phe162=)
c.303C>T (p.Phe101=)
c.672C>T (p.Phe224=)
c.167C>T (p.Ser56Phe)
c.267C>T (p.Phe89=)
n.475C>T
n.610C>T
c.276C>T (p.Phe92=)
c.266C>T
c.111+139C>T (n.111+139C>T)
c.443-3397C>T (n.443-3397C>T)
c.*385C>T (n.*385C>T)
c.249C>T (p.Phe83=)
c.585C>T (p.Phe195=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31933923T>ACA363366381C2c.487T>A (p.Ser163Thr)
c.304T>A (p.Ser102Thr)
c.673T>A (p.Ser225Thr)
c.168T>A (p.Ser56=)
c.268T>A (p.Ser90Thr)
n.476T>A
n.611T>A
c.277T>A (p.Ser93Thr)
c.267T>A
c.111+140T>A (n.111+140T>A)
c.443-3396T>A (n.443-3396T>A)
c.*386T>A (n.*386T>A)
c.250T>A (p.Ser84Thr)
c.586T>A (p.Ser196Thr)
6g.31933923T>CCA363366384C2c.487T>C (p.Ser163Pro)
c.304T>C (p.Ser102Pro)
c.673T>C (p.Ser225Pro)
c.168T>C (p.Ser56=)
c.268T>C (p.Ser90Pro)
n.476T>C
n.611T>C
c.277T>C (p.Ser93Pro)
c.267T>C
c.111+140T>C (n.111+140T>C)
c.443-3396T>C (n.443-3396T>C)
c.*386T>C (n.*386T>C)
c.250T>C (p.Ser84Pro)
c.586T>C (p.Ser196Pro)
6g.31933923T>GCA3727466C2c.487T>G (p.Ser163Ala)
c.304T>G (p.Ser102Ala)
c.673T>G (p.Ser225Ala)
c.168T>G (p.Ser56=)
c.268T>G (p.Ser90Ala)
n.476T>G
n.611T>G
c.277T>G (p.Ser93Ala)
c.267T>G
c.111+140T>G (n.111+140T>G)
c.443-3396T>G (n.443-3396T>G)
c.*386T>G (n.*386T>G)
c.250T>G (p.Ser84Ala)
c.586T>G (p.Ser196Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31933923T=CA1619369918C2c.487T= (p.Ser163=)
c.304T= (p.Ser102=)
c.673T= (p.Ser225=)
c.168T= (p.Ser56=)
c.268T= (p.Ser90=)
n.476T=
n.611T=
c.277T= (p.Ser93=)
c.267T=
c.111+140T= (n.111+140T=)
c.443-3396T= (n.443-3396T=)
c.*386T= (n.*386T=)
c.250T= (p.Ser84=)
c.586T= (p.Ser196=)
6g.31933924C>ACA363366395C2c.488C>A (p.Ser163Tyr)
c.305C>A (p.Ser102Tyr)
c.674C>A (p.Ser225Tyr)
c.169C>A (p.Pro57Thr)
c.269C>A (p.Ser90Tyr)
n.477C>A
n.612C>A
c.278C>A (p.Ser93Tyr)
c.268C>A
c.111+141C>A (n.111+141C>A)
c.443-3395C>A (n.443-3395C>A)
c.*387C>A (n.*387C>A)
c.251C>A (p.Ser84Tyr)
c.587C>A (p.Ser196Tyr)
6g.31933924C>GCA363366391C2c.488C>G (p.Ser163Cys)
c.305C>G (p.Ser102Cys)
c.674C>G (p.Ser225Cys)
c.169C>G (p.Pro57Ala)
c.269C>G (p.Ser90Cys)
n.477C>G
n.612C>G
c.278C>G (p.Ser93Cys)
c.268C>G
c.111+141C>G (n.111+141C>G)
c.443-3395C>G (n.443-3395C>G)
c.*387C>G (n.*387C>G)
c.251C>G (p.Ser84Cys)
c.587C>G (p.Ser196Cys)
 gnomAD v3 gnomAD v4
6g.31933924C>TCA363366390C2c.488C>T (p.Ser163Phe)
c.305C>T (p.Ser102Phe)
c.674C>T (p.Ser225Phe)
c.169C>T (p.Pro57Ser)
c.269C>T (p.Ser90Phe)
n.477C>T
n.612C>T
c.278C>T (p.Ser93Phe)
c.268C>T
c.111+141C>T (n.111+141C>T)
c.443-3395C>T (n.443-3395C>T)
c.*387C>T (n.*387C>T)
c.251C>T (p.Ser84Phe)
c.587C>T (p.Ser196Phe)
6g.31933925_31933926dupCA3727465C2c.489_490dup (p.His164ProfsTer29)
c.306_307dup (p.His103ProfsTer28)
c.675_676dup (p.His226ProfsTer29)
c.170_171dup (p.Thr58ProfsTer22)
c.270_271dup (p.His91ProfsTer29)
n.478_479dup
n.613_614dup
c.279_280dup (p.His94ProfsTer29)
c.269_270dup
c.170_171dup (p.Thr58ProfsTer19)
c.306_307dup (p.His103ProfsTer29)
c.489_490dup (p.His164ProfsTer28)
c.111+142_111+143dup (n.111+142_111+143dup)
c.443-3394_443-3393dup (n.443-3394_443-3393dup)
c.*388_*389dup (n.*388_*389dup)
c.252_253dup (p.His85ProfsTer29)
c.588_589dup (p.His197ProfsTer29)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31933926delCA2578572155C2c.490del (p.His164ThrfsTer28)
c.307del (p.His103ThrfsTer27)
c.676del (p.His226ThrfsTer28)
c.171del (p.Thr58HisfsTer21)
c.271del (p.His91ThrfsTer28)
n.479del
n.614del
c.280del (p.His94ThrfsTer28)
c.270del
c.171del (p.Thr58HisfsTer18)
c.307del (p.His103ThrfsTer28)
c.490del (p.His164ThrfsTer27)
c.111+143del (n.111+143del)
c.443-3393del (n.443-3393del)
c.*389del (n.*389del)
c.253del (p.His85ThrfsTer28)
c.589del (p.His197ThrfsTer28)
6g.31933925C>ACA363366399C2c.489C>A (p.Ser163=)
c.306C>A (p.Ser102=)
c.675C>A (p.Ser225=)
c.170C>A (p.Pro57His)
c.270C>A (p.Ser90=)
n.478C>A
n.613C>A
c.279C>A (p.Ser93=)
c.269C>A
c.111+142C>A (n.111+142C>A)
c.443-3394C>A (n.443-3394C>A)
c.*388C>A (n.*388C>A)
c.252C>A (p.Ser84=)
c.588C>A (p.Ser196=)
6g.31933925C>GCA363366412C2c.489C>G (p.Ser163=)
c.306C>G (p.Ser102=)
c.675C>G (p.Ser225=)
c.170C>G (p.Pro57Arg)
c.270C>G (p.Ser90=)
n.478C>G
n.613C>G
c.279C>G (p.Ser93=)
c.269C>G
c.111+142C>G (n.111+142C>G)
c.443-3394C>G (n.443-3394C>G)
c.*388C>G (n.*388C>G)
c.252C>G (p.Ser84=)
c.588C>G (p.Ser196=)
6g.31933925C>TCA363366417C2c.489C>T (p.Ser163=)
c.306C>T (p.Ser102=)
c.675C>T (p.Ser225=)
c.170C>T (p.Pro57Leu)
c.270C>T (p.Ser90=)
n.478C>T
n.613C>T
c.279C>T (p.Ser93=)
c.269C>T
c.111+142C>T (n.111+142C>T)
c.443-3394C>T (n.443-3394C>T)
c.*388C>T (n.*388C>T)
c.252C>T (p.Ser84=)
c.588C>T (p.Ser196=)
 COSMIC
6g.31933926C>ACA363366422C2c.490C>A (p.His164Asn)
c.307C>A (p.His103Asn)
c.676C>A (p.His226Asn)
c.171C>A (p.Pro57=)
c.271C>A (p.His91Asn)
n.479C>A
n.614C>A
c.280C>A (p.His94Asn)
c.270C>A
c.111+143C>A (n.111+143C>A)
c.443-3393C>A (n.443-3393C>A)
c.*389C>A (n.*389C>A)
c.253C>A (p.His85Asn)
c.589C>A (p.His197Asn)
6g.31933926C=CA1619369919C2c.490C= (p.His164=)
c.307C= (p.His103=)
c.676C= (p.His226=)
c.171C= (p.Pro57=)
c.271C= (p.His91=)
n.479C=
n.614C=
c.280C= (p.His94=)
c.270C=
c.111+143C= (n.111+143C=)
c.443-3393C= (n.443-3393C=)
c.*389C= (n.*389C=)
c.253C= (p.His85=)
c.589C= (p.His197=)
6g.31933926C>GCA3727467C2c.490C>G (p.His164Asp)
c.307C>G (p.His103Asp)
c.676C>G (p.His226Asp)
c.171C>G (p.Pro57=)
c.271C>G (p.His91Asp)
n.479C>G
n.614C>G
c.280C>G (p.His94Asp)
c.270C>G
c.111+143C>G (n.111+143C>G)
c.443-3393C>G (n.443-3393C>G)
c.*389C>G (n.*389C>G)
c.253C>G (p.His85Asp)
c.589C>G (p.His197Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31933926C>TCA363366434C2c.490C>T (p.His164Tyr)
c.307C>T (p.His103Tyr)
c.676C>T (p.His226Tyr)
c.171C>T (p.Pro57=)
c.271C>T (p.His91Tyr)
n.479C>T
n.614C>T
c.280C>T (p.His94Tyr)
c.270C>T
c.111+143C>T (n.111+143C>T)
c.443-3393C>T (n.443-3393C>T)
c.*389C>T (n.*389C>T)
c.253C>T (p.His85Tyr)
c.589C>T (p.His197Tyr)
 gnomAD v4
6g.31933927A>CCA363366437C2c.491A>C (p.His164Pro)
c.308A>C (p.His103Pro)
c.677A>C (p.His226Pro)
c.172A>C (p.Thr58Pro)
c.272A>C (p.His91Pro)
n.480A>C
n.615A>C
c.281A>C (p.His94Pro)
c.271A>C
c.111+144A>C (n.111+144A>C)
c.443-3392A>C (n.443-3392A>C)
c.*390A>C (n.*390A>C)
c.254A>C (p.His85Pro)
c.590A>C (p.His197Pro)
6g.31933927A>GCA363366446C2c.491A>G (p.His164Arg)
c.308A>G (p.His103Arg)
c.677A>G (p.His226Arg)
c.172A>G (p.Thr58Ala)
c.272A>G (p.His91Arg)
n.480A>G
n.615A>G
c.281A>G (p.His94Arg)
c.271A>G
c.111+144A>G (n.111+144A>G)
c.443-3392A>G (n.443-3392A>G)
c.*390A>G (n.*390A>G)
c.254A>G (p.His85Arg)
c.590A>G (p.His197Arg)
6g.31933927A>TCA363366449C2c.491A>T (p.His164Leu)
c.308A>T (p.His103Leu)
c.677A>T (p.His226Leu)
c.172A>T (p.Thr58Ser)
c.272A>T (p.His91Leu)
n.480A>T
n.615A>T
c.281A>T (p.His94Leu)
c.271A>T
c.111+144A>T (n.111+144A>T)
c.443-3392A>T (n.443-3392A>T)
c.*390A>T (n.*390A>T)
c.254A>T (p.His85Leu)
c.590A>T (p.His197Leu)
6g.31933928C>ACA363366450C2c.492C>A (p.His164Gln)
c.309C>A (p.His103Gln)
c.678C>A (p.His226Gln)
c.173C>A (p.Thr58Lys)
c.273C>A (p.His91Gln)
n.481C>A
n.616C>A
c.282C>A (p.His94Gln)
c.272C>A
c.111+145C>A (n.111+145C>A)
c.443-3391C>A (n.443-3391C>A)
c.*391C>A (n.*391C>A)
c.255C>A (p.His85Gln)
c.591C>A (p.His197Gln)
6g.31933928C>GCA363366451C2c.492C>G (p.His164Gln)
c.309C>G (p.His103Gln)
c.678C>G (p.His226Gln)
c.173C>G (p.Thr58Arg)
c.273C>G (p.His91Gln)
n.481C>G
n.616C>G
c.282C>G (p.His94Gln)
c.272C>G
c.111+145C>G (n.111+145C>G)
c.443-3391C>G (n.443-3391C>G)
c.*391C>G (n.*391C>G)
c.255C>G (p.His85Gln)
c.591C>G (p.His197Gln)
6g.31933928C>TCA363366452C2c.492C>T (p.His164=)
c.309C>T (p.His103=)
c.678C>T (p.His226=)
c.173C>T (p.Thr58Ile)
c.273C>T (p.His91=)
n.481C>T
n.616C>T
c.282C>T (p.His94=)
c.272C>T
c.111+145C>T (n.111+145C>T)
c.443-3391C>T (n.443-3391C>T)
c.*391C>T (n.*391C>T)
c.255C>T (p.His85=)
c.591C>T (p.His197=)
6g.31933929A=CA1619369920C2c.493A= (p.Met165=)
c.310A= (p.Met104=)
c.679A= (p.Met227=)
c.174A= (p.Thr58=)
c.274A= (p.Met92=)
n.482A=
n.617A=
c.283A= (p.Met95=)
c.273A=
c.111+146A= (n.111+146A=)
c.443-3390A= (n.443-3390A=)
c.*392A= (n.*392A=)
c.256A= (p.Met86=)
c.592A= (p.Met198=)
6g.31933929A>CCA363366458C2c.493A>C (p.Met165Leu)
c.310A>C (p.Met104Leu)
c.679A>C (p.Met227Leu)
c.174A>C (p.Thr58=)
c.274A>C (p.Met92Leu)
n.482A>C
n.617A>C
c.283A>C (p.Met95Leu)
c.273A>C
c.111+146A>C (n.111+146A>C)
c.443-3390A>C (n.443-3390A>C)
c.*392A>C (n.*392A>C)
c.256A>C (p.Met86Leu)
c.592A>C (p.Met198Leu)
6g.31933929A>GCA363366453C2c.493A>G (p.Met165Val)
c.310A>G (p.Met104Val)
c.679A>G (p.Met227Val)
c.174A>G (p.Thr58=)
c.274A>G (p.Met92Val)
n.482A>G
n.617A>G
c.283A>G (p.Met95Val)
c.273A>G
c.111+146A>G (n.111+146A>G)
c.443-3390A>G (n.443-3390A>G)
c.*392A>G (n.*392A>G)
c.256A>G (p.Met86Val)
c.592A>G (p.Met198Val)
 dbSNP
6g.31933929A>TCA363366456C2c.493A>T (p.Met165Leu)
c.310A>T (p.Met104Leu)
c.679A>T (p.Met227Leu)
c.174A>T (p.Thr58=)
c.274A>T (p.Met92Leu)
n.482A>T
n.617A>T
c.283A>T (p.Met95Leu)
c.273A>T
c.111+146A>T (n.111+146A>T)
c.443-3390A>T (n.443-3390A>T)
c.*392A>T (n.*392A>T)
c.256A>T (p.Met86Leu)
c.592A>T (p.Met198Leu)
6g.31933930T>ACA363366461C2c.494T>A (p.Met165Lys)
c.311T>A (p.Met104Lys)
c.680T>A (p.Met227Lys)
c.175T>A (p.Cys59Ser)
c.275T>A (p.Met92Lys)
n.483T>A
n.618T>A
c.284T>A (p.Met95Lys)
c.274T>A
c.111+147T>A (n.111+147T>A)
c.443-3389T>A (n.443-3389T>A)
c.*393T>A (n.*393T>A)
c.257T>A (p.Met86Lys)
c.593T>A (p.Met198Lys)
6g.31933930T>CCA363366465C2c.494T>C (p.Met165Thr)
c.311T>C (p.Met104Thr)
c.680T>C (p.Met227Thr)
c.175T>C (p.Cys59Arg)
c.275T>C (p.Met92Thr)
n.483T>C
n.618T>C
c.284T>C (p.Met95Thr)
c.274T>C
c.111+147T>C (n.111+147T>C)
c.443-3389T>C (n.443-3389T>C)
c.*393T>C (n.*393T>C)
c.257T>C (p.Met86Thr)
c.593T>C (p.Met198Thr)
6g.31933930T>GCA363366468C2c.494T>G (p.Met165Arg)
c.311T>G (p.Met104Arg)
c.680T>G (p.Met227Arg)
c.175T>G (p.Cys59Gly)
c.275T>G (p.Met92Arg)
n.483T>G
n.618T>G
c.284T>G (p.Met95Arg)
c.274T>G
c.111+147T>G (n.111+147T>G)
c.443-3389T>G (n.443-3389T>G)
c.*393T>G (n.*393T>G)
c.257T>G (p.Met86Arg)
c.593T>G (p.Met198Arg)
6g.31933931G>ACA3727468C2c.495G>A (p.Met165Ile)
c.312G>A (p.Met104Ile)
c.681G>A (p.Met227Ile)
c.176G>A (p.Cys59Tyr)
c.276G>A (p.Met92Ile)
n.484G>A
n.619G>A
c.285G>A (p.Met95Ile)
c.275G>A
c.111+148G>A (n.111+148G>A)
c.443-3388G>A (n.443-3388G>A)
c.*394G>A (n.*394G>A)
c.258G>A (p.Met86Ile)
c.594G>A (p.Met198Ile)
 dbSNP ExAC gnomAD v2
6g.31933931G>CCA363366474C2c.495G>C (p.Met165Ile)
c.312G>C (p.Met104Ile)
c.681G>C (p.Met227Ile)
c.176G>C (p.Cys59Ser)
c.276G>C (p.Met92Ile)
n.484G>C
n.619G>C
c.285G>C (p.Met95Ile)
c.275G>C
c.111+148G>C (n.111+148G>C)
c.443-3388G>C (n.443-3388G>C)
c.*394G>C (n.*394G>C)
c.258G>C (p.Met86Ile)
c.594G>C (p.Met198Ile)
6g.31933931G=CA1619369921C2c.495G= (p.Met165=)
c.312G= (p.Met104=)
c.681G= (p.Met227=)
c.176G= (p.Cys59=)
c.276G= (p.Met92=)
n.484G=
n.619G=
c.285G= (p.Met95=)
c.275G=
c.111+148G= (n.111+148G=)
c.443-3388G= (n.443-3388G=)
c.*394G= (n.*394G=)
c.258G= (p.Met86=)
c.594G= (p.Met198=)
6g.31933931G>TCA363366475C2c.495G>T (p.Met165Ile)
c.312G>T (p.Met104Ile)
c.681G>T (p.Met227Ile)
c.176G>T (p.Cys59Phe)
c.276G>T (p.Met92Ile)
n.484G>T
n.619G>T
c.285G>T (p.Met95Ile)
c.275G>T
c.111+148G>T (n.111+148G>T)
c.443-3388G>T (n.443-3388G>T)
c.*394G>T (n.*394G>T)
c.258G>T (p.Met86Ile)
c.594G>T (p.Met198Ile)
6g.31933932C>ACA363366479C2c.496C>A (p.Leu166Ile)
c.313C>A (p.Leu105Ile)
c.682C>A (p.Leu228Ile)
c.177C>A (p.Cys59Ter)
c.277C>A (p.Leu93Ile)
n.485C>A
n.620C>A
c.286C>A (p.Leu96Ile)
c.276C>A
c.111+149C>A (n.111+149C>A)
c.443-3387C>A (n.443-3387C>A)
c.*395C>A (n.*395C>A)
c.259C>A (p.Leu87Ile)
c.595C>A (p.Leu199Ile)
6g.31933932C>GCA363366481C2c.496C>G (p.Leu166Val)
c.313C>G (p.Leu105Val)
c.682C>G (p.Leu228Val)
c.177C>G (p.Cys59Trp)
c.277C>G (p.Leu93Val)
n.485C>G
n.620C>G
c.286C>G (p.Leu96Val)
c.276C>G
c.111+149C>G (n.111+149C>G)
c.443-3387C>G (n.443-3387C>G)
c.*395C>G (n.*395C>G)
c.259C>G (p.Leu87Val)
c.595C>G (p.Leu199Val)
6g.31933932C>TCA363366487C2c.496C>T (p.Leu166Phe)
c.313C>T (p.Leu105Phe)
c.682C>T (p.Leu228Phe)
c.177C>T (p.Cys59=)
c.277C>T (p.Leu93Phe)
n.485C>T
n.620C>T
c.286C>T (p.Leu96Phe)
c.276C>T
c.111+149C>T (n.111+149C>T)
c.443-3387C>T (n.443-3387C>T)
c.*395C>T (n.*395C>T)
c.259C>T (p.Leu87Phe)
c.595C>T (p.Leu199Phe)
6g.31933933T>ACA363366490C2c.497T>A (p.Leu166His)
c.314T>A (p.Leu105His)
c.683T>A (p.Leu228His)
c.178T>A (p.Leu60Met)
c.278T>A (p.Leu93His)
n.486T>A
n.621T>A
c.287T>A (p.Leu96His)
c.277T>A
c.111+150T>A (n.111+150T>A)
c.443-3386T>A (n.443-3386T>A)
c.*396T>A (n.*396T>A)
c.260T>A (p.Leu87His)
c.596T>A (p.Leu199His)
6g.31933933T>CCA363366492C2c.497T>C (p.Leu166Pro)
c.314T>C (p.Leu105Pro)
c.683T>C (p.Leu228Pro)
c.178T>C (p.Leu60=)
c.278T>C (p.Leu93Pro)
n.486T>C
n.621T>C
c.287T>C (p.Leu96Pro)
c.277T>C
c.111+150T>C (n.111+150T>C)
c.443-3386T>C (n.443-3386T>C)
c.*396T>C (n.*396T>C)
c.260T>C (p.Leu87Pro)
c.596T>C (p.Leu199Pro)
 dbSNP
6g.31933933T>GCA363366494C2c.497T>G (p.Leu166Arg)
c.314T>G (p.Leu105Arg)
c.683T>G (p.Leu228Arg)
c.178T>G (p.Leu60Val)
c.278T>G (p.Leu93Arg)
n.486T>G
n.621T>G
c.287T>G (p.Leu96Arg)
c.277T>G
c.111+150T>G (n.111+150T>G)
c.443-3386T>G (n.443-3386T>G)
c.*396T>G (n.*396T>G)
c.260T>G (p.Leu87Arg)
c.596T>G (p.Leu199Arg)
6g.31933933T=CA1619369922C2c.497T= (p.Leu166=)
c.314T= (p.Leu105=)
c.683T= (p.Leu228=)
c.178T= (p.Leu60=)
c.278T= (p.Leu93=)
n.486T=
n.621T=
c.287T= (p.Leu96=)
c.277T=
c.111+150T= (n.111+150T=)
c.443-3386T= (n.443-3386T=)
c.*396T= (n.*396T=)
c.260T= (p.Leu87=)
c.596T= (p.Leu199=)
6g.31933934T>ACA363366499C2c.498T>A (p.Leu166=)
c.315T>A (p.Leu105=)
c.684T>A (p.Leu228=)
c.179T>A (p.Leu60Ter)
c.279T>A (p.Leu93=)
n.487T>A
n.622T>A
c.288T>A (p.Leu96=)
c.278T>A
c.111+151T>A (n.111+151T>A)
c.443-3385T>A (n.443-3385T>A)
c.*397T>A (n.*397T>A)
c.261T>A (p.Leu87=)
c.597T>A (p.Leu199=)
6g.31933934T>CCA363366497C2c.498T>C (p.Leu166=)
c.315T>C (p.Leu105=)
c.684T>C (p.Leu228=)
c.179T>C (p.Leu60Ser)
c.279T>C (p.Leu93=)
n.487T>C
n.622T>C
c.288T>C (p.Leu96=)
c.278T>C
c.111+151T>C (n.111+151T>C)
c.443-3385T>C (n.443-3385T>C)
c.*397T>C (n.*397T>C)
c.261T>C (p.Leu87=)
c.597T>C (p.Leu199=)
6g.31933934T>GCA363366495C2c.498T>G (p.Leu166=)
c.315T>G (p.Leu105=)
c.684T>G (p.Leu228=)
c.179T>G (p.Leu60Trp)
c.279T>G (p.Leu93=)
n.487T>G
n.622T>G
c.288T>G (p.Leu96=)
c.278T>G
c.111+151T>G (n.111+151T>G)
c.443-3385T>G (n.443-3385T>G)
c.*397T>G (n.*397T>G)
c.261T>G (p.Leu87=)
c.597T>G (p.Leu199=)
6g.31933935G>ACA363366502C2c.499G>A (p.Gly167Arg)
c.316G>A (p.Gly106Arg)
c.685G>A (p.Gly229Arg)
c.180G>A (p.Leu60=)
c.280G>A (p.Gly94Arg)
n.488G>A
n.623G>A
c.289G>A (p.Gly97Arg)
c.279G>A
c.111+152G>A (n.111+152G>A)
c.443-3384G>A (n.443-3384G>A)
c.*398G>A (n.*398G>A)
c.262G>A (p.Gly88Arg)
c.598G>A (p.Gly200Arg)
 ClinVar dbSNP gnomAD v4
6g.31933935G>CCA363366504C2c.499G>C (p.Gly167Arg)
c.316G>C (p.Gly106Arg)
c.685G>C (p.Gly229Arg)
c.180G>C (p.Leu60Phe)
c.280G>C (p.Gly94Arg)
n.488G>C
n.623G>C
c.289G>C (p.Gly97Arg)
c.279G>C
c.111+152G>C (n.111+152G>C)
c.443-3384G>C (n.443-3384G>C)
c.*398G>C (n.*398G>C)
c.262G>C (p.Gly88Arg)
c.598G>C (p.Gly200Arg)
6g.31933935G>TCA363366507C2c.499G>T (p.Gly167Trp)
c.316G>T (p.Gly106Trp)
c.685G>T (p.Gly229Trp)
c.180G>T (p.Leu60Phe)
c.280G>T (p.Gly94Trp)
n.488G>T
n.623G>T
c.289G>T (p.Gly97Trp)
c.279G>T
c.111+152G>T (n.111+152G>T)
c.443-3384G>T (n.443-3384G>T)
c.*398G>T (n.*398G>T)
c.262G>T (p.Gly88Trp)
c.598G>T (p.Gly200Trp)
6g.31933936G>ACA3727469C2c.500G>A (p.Gly167Glu)
c.317G>A (p.Gly106Glu)
c.686G>A (p.Gly229Glu)
c.181G>A (p.Gly61Arg)
c.281G>A (p.Gly94Glu)
n.489G>A
n.624G>A
c.290G>A (p.Gly97Glu)
c.280G>A
c.111+153G>A (n.111+153G>A)
c.443-3383G>A (n.443-3383G>A)
c.*399G>A (n.*399G>A)
c.263G>A (p.Gly88Glu)
c.599G>A (p.Gly200Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.31933936G>CCA363366510C2c.500G>C (p.Gly167Ala)
c.317G>C (p.Gly106Ala)
c.686G>C (p.Gly229Ala)
c.181G>C (p.Gly61Arg)
c.281G>C (p.Gly94Ala)
n.489G>C
n.624G>C
c.290G>C (p.Gly97Ala)
c.280G>C
c.111+153G>C (n.111+153G>C)
c.443-3383G>C (n.443-3383G>C)
c.*399G>C (n.*399G>C)
c.263G>C (p.Gly88Ala)
c.599G>C (p.Gly200Ala)
6g.31933936G=CA1619369923C2c.500G= (p.Gly167=)
c.317G= (p.Gly106=)
c.686G= (p.Gly229=)
c.181G= (p.Gly61=)
c.281G= (p.Gly94=)
n.489G=
n.624G=
c.290G= (p.Gly97=)
c.280G=
c.111+153G= (n.111+153G=)
c.443-3383G= (n.443-3383G=)
c.*399G= (n.*399G=)
c.263G= (p.Gly88=)
c.599G= (p.Gly200=)
6g.31933936G>TCA363366513C2c.500G>T (p.Gly167Val)
c.317G>T (p.Gly106Val)
c.686G>T (p.Gly229Val)
c.181G>T (p.Gly61Trp)
c.281G>T (p.Gly94Val)
n.489G>T
n.624G>T
c.290G>T (p.Gly97Val)
c.280G>T
c.111+153G>T (n.111+153G>T)
c.443-3383G>T (n.443-3383G>T)
c.*399G>T (n.*399G>T)
c.263G>T (p.Gly88Val)
c.599G>T (p.Gly200Val)
 COSMIC
6g.31933937G>ACA363366532C2c.501G>A (p.Gly167=)
c.318G>A (p.Gly106=)
c.687G>A (p.Gly229=)
c.182G>A (p.Gly61Glu)
c.282G>A (p.Gly94=)
n.490G>A
n.625G>A
c.291G>A (p.Gly97=)
c.281G>A
c.111+154G>A (n.111+154G>A)
c.443-3382G>A (n.443-3382G>A)
c.*400G>A (n.*400G>A)
c.264G>A (p.Gly88=)
c.600G>A (p.Gly200=)
6g.31933937G>CCA363366528C2c.501G>C (p.Gly167=)
c.318G>C (p.Gly106=)
c.687G>C (p.Gly229=)
c.182G>C (p.Gly61Ala)
c.282G>C (p.Gly94=)
n.490G>C
n.625G>C
c.291G>C (p.Gly97=)
c.281G>C
c.111+154G>C (n.111+154G>C)
c.443-3382G>C (n.443-3382G>C)
c.*400G>C (n.*400G>C)
c.264G>C (p.Gly88=)
c.600G>C (p.Gly200=)
6g.31933937G=CA1619369924C2c.501G= (p.Gly167=)
c.318G= (p.Gly106=)
c.687G= (p.Gly229=)
c.182G= (p.Gly61=)
c.282G= (p.Gly94=)
n.490G=
n.625G=
c.291G= (p.Gly97=)
c.281G=
c.111+154G= (n.111+154G=)
c.443-3382G= (n.443-3382G=)
c.*400G= (n.*400G=)
c.264G= (p.Gly88=)
c.600G= (p.Gly200=)
6g.31933937G>TCA3727470C2c.501G>T (p.Gly167=)
c.318G>T (p.Gly106=)
c.687G>T (p.Gly229=)
c.182G>T (p.Gly61Val)
c.282G>T (p.Gly94=)
n.490G>T
n.625G>T
c.291G>T (p.Gly97=)
c.281G>T
c.111+154G>T (n.111+154G>T)
c.443-3382G>T (n.443-3382G>T)
c.*400G>T (n.*400G>T)
c.264G>T (p.Gly88=)
c.600G>T (p.Gly200=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31933938G>ACA363366535C2c.502G>A (p.Ala168Thr)
c.319G>A (p.Ala107Thr)
c.688G>A (p.Ala230Thr)
c.183G>A (p.Gly61=)
c.283G>A (p.Ala95Thr)
n.491G>A
n.626G>A
c.292G>A (p.Ala98Thr)
c.282G>A
c.111+155G>A (n.111+155G>A)
c.443-3381G>A (n.443-3381G>A)
c.*401G>A (n.*401G>A)
c.265G>A (p.Ala89Thr)
c.601G>A (p.Ala201Thr)
6g.31933938G>CCA3727471C2c.502G>C (p.Ala168Pro)
c.319G>C (p.Ala107Pro)
c.688G>C (p.Ala230Pro)
c.183G>C (p.Gly61=)
c.283G>C (p.Ala95Pro)
n.491G>C
n.626G>C
c.292G>C (p.Ala98Pro)
c.282G>C
c.111+155G>C (n.111+155G>C)
c.443-3381G>C (n.443-3381G>C)
c.*401G>C (n.*401G>C)
c.265G>C (p.Ala89Pro)
c.601G>C (p.Ala201Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31933938G=CA1619369925C2c.502G= (p.Ala168=)
c.319G= (p.Ala107=)
c.688G= (p.Ala230=)
c.183G= (p.Gly61=)
c.283G= (p.Ala95=)
n.491G=
n.626G=
c.292G= (p.Ala98=)
c.282G=
c.111+155G= (n.111+155G=)
c.443-3381G= (n.443-3381G=)
c.*401G= (n.*401G=)
c.265G= (p.Ala89=)
c.601G= (p.Ala201=)
6g.31933938G>TCA363366539C2c.502G>T (p.Ala168Ser)
c.319G>T (p.Ala107Ser)
c.688G>T (p.Ala230Ser)
c.183G>T (p.Gly61=)
c.283G>T (p.Ala95Ser)
n.491G>T
n.626G>T
c.292G>T (p.Ala98Ser)
c.282G>T
c.111+155G>T (n.111+155G>T)
c.443-3381G>T (n.443-3381G>T)
c.*401G>T (n.*401G>T)
c.265G>T (p.Ala89Ser)
c.601G>T (p.Ala201Ser)
6g.31933939C>ACA363366540C2c.503C>A (p.Ala168Asp)
c.320C>A (p.Ala107Asp)
c.689C>A (p.Ala230Asp)
c.184C>A (p.Pro62Thr)
c.284C>A (p.Ala95Asp)
n.492C>A
n.627C>A
c.293C>A (p.Ala98Asp)
c.283C>A
c.111+156C>A (n.111+156C>A)
c.443-3380C>A (n.443-3380C>A)
c.*402C>A (n.*402C>A)
c.266C>A (p.Ala89Asp)
c.602C>A (p.Ala201Asp)
6g.31933939C>GCA363366541C2c.503C>G (p.Ala168Gly)
c.320C>G (p.Ala107Gly)
c.689C>G (p.Ala230Gly)
c.184C>G (p.Pro62Ala)
c.284C>G (p.Ala95Gly)
n.492C>G
n.627C>G
c.293C>G (p.Ala98Gly)
c.283C>G
c.111+156C>G (n.111+156C>G)
c.443-3380C>G (n.443-3380C>G)
c.*402C>G (n.*402C>G)
c.266C>G (p.Ala89Gly)
c.602C>G (p.Ala201Gly)
6g.31933939C>TCA363366542C2c.503C>T (p.Ala168Val)
c.320C>T (p.Ala107Val)
c.689C>T (p.Ala230Val)
c.184C>T (p.Pro62Ser)
c.284C>T (p.Ala95Val)
n.492C>T
n.627C>T
c.293C>T (p.Ala98Val)
c.283C>T
c.111+156C>T (n.111+156C>T)
c.443-3380C>T (n.443-3380C>T)
c.*402C>T (n.*402C>T)
c.266C>T (p.Ala89Val)
c.602C>T (p.Ala201Val)
6g.31933940C>ACA363366544C2c.504C>A (p.Ala168=)
c.321C>A (p.Ala107=)
c.690C>A (p.Ala230=)
c.185C>A (p.Pro62Gln)
c.285C>A (p.Ala95=)
n.493C>A
n.628C>A
c.294C>A (p.Ala98=)
c.284C>A
c.111+157C>A (n.111+157C>A)
c.443-3379C>A (n.443-3379C>A)
c.*403C>A (n.*403C>A)
c.267C>A (p.Ala89=)
c.603C>A (p.Ala201=)
6g.31933940C>GCA363366551C2c.504C>G (p.Ala168=)
c.321C>G (p.Ala107=)
c.690C>G (p.Ala230=)
c.185C>G (p.Pro62Arg)
c.285C>G (p.Ala95=)
n.493C>G
n.628C>G
c.294C>G (p.Ala98=)
c.284C>G
c.111+157C>G (n.111+157C>G)
c.443-3379C>G (n.443-3379C>G)
c.*403C>G (n.*403C>G)
c.267C>G (p.Ala89=)
c.603C>G (p.Ala201=)
6g.31933940C>TCA363366548C2c.504C>T (p.Ala168=)
c.321C>T (p.Ala107=)
c.690C>T (p.Ala230=)
c.185C>T (p.Pro62Leu)
c.285C>T (p.Ala95=)
n.493C>T
n.628C>T
c.294C>T (p.Ala98=)
c.284C>T
c.111+157C>T (n.111+157C>T)
c.443-3379C>T (n.443-3379C>T)
c.*403C>T (n.*403C>T)
c.267C>T (p.Ala89=)
c.603C>T (p.Ala201=)
6g.31933941A>CCA363366554C2c.505A>C (p.Thr169Pro)
c.322A>C (p.Thr108Pro)
c.691A>C (p.Thr231Pro)
c.186A>C (p.Pro62=)
c.286A>C (p.Thr96Pro)
n.494A>C
n.629A>C
c.295A>C (p.Thr99Pro)
c.285A>C
c.111+158A>C (n.111+158A>C)
c.443-3378A>C (n.443-3378A>C)
c.*404A>C (n.*404A>C)
c.268A>C (p.Thr90Pro)
c.604A>C (p.Thr202Pro)
6g.31933941A>GCA363366568C2c.505A>G (p.Thr169Ala)
c.322A>G (p.Thr108Ala)
c.691A>G (p.Thr231Ala)
c.186A>G (p.Pro62=)
c.286A>G (p.Thr96Ala)
n.494A>G
n.629A>G
c.295A>G (p.Thr99Ala)
c.285A>G
c.111+158A>G (n.111+158A>G)
c.443-3378A>G (n.443-3378A>G)
c.*404A>G (n.*404A>G)
c.268A>G (p.Thr90Ala)
c.604A>G (p.Thr202Ala)
6g.31933941A>TCA363366572C2c.505A>T (p.Thr169Ser)
c.322A>T (p.Thr108Ser)
c.691A>T (p.Thr231Ser)
c.186A>T (p.Pro62=)
c.286A>T (p.Thr96Ser)
n.494A>T
n.629A>T
c.295A>T (p.Thr99Ser)
c.285A>T
c.111+158A>T (n.111+158A>T)
c.443-3378A>T (n.443-3378A>T)
c.*404A>T (n.*404A>T)
c.268A>T (p.Thr90Ser)
c.604A>T (p.Thr202Ser)
6g.31933942C>ACA363366578C2c.506C>A (p.Thr169Asn)
c.323C>A (p.Thr108Asn)
c.692C>A (p.Thr231Asn)
c.187C>A (p.Pro63Thr)
c.287C>A (p.Thr96Asn)
n.495C>A
n.630C>A
c.296C>A (p.Thr99Asn)
c.286C>A
c.111+159C>A (n.111+159C>A)
c.443-3377C>A (n.443-3377C>A)
c.*405C>A (n.*405C>A)
c.269C>A (p.Thr90Asn)
c.605C>A (p.Thr202Asn)
6g.31933942C>GCA363366579C2c.506C>G (p.Thr169Ser)
c.323C>G (p.Thr108Ser)
c.692C>G (p.Thr231Ser)
c.187C>G (p.Pro63Ala)
c.287C>G (p.Thr96Ser)
n.495C>G
n.630C>G
c.296C>G (p.Thr99Ser)
c.286C>G
c.111+159C>G (n.111+159C>G)
c.443-3377C>G (n.443-3377C>G)
c.*405C>G (n.*405C>G)
c.269C>G (p.Thr90Ser)
c.605C>G (p.Thr202Ser)
6g.31933942C>TCA363366582C2c.506C>T (p.Thr169Ile)
c.323C>T (p.Thr108Ile)
c.692C>T (p.Thr231Ile)
c.187C>T (p.Pro63Ser)
c.287C>T (p.Thr96Ile)
n.495C>T
n.630C>T
c.296C>T (p.Thr99Ile)
c.286C>T
c.111+159C>T (n.111+159C>T)
c.443-3377C>T (n.443-3377C>T)
c.*405C>T (n.*405C>T)
c.269C>T (p.Thr90Ile)
c.605C>T (p.Thr202Ile)
 gnomAD v4
6g.31933943C>ACA363366585C2c.507C>A (p.Thr169=)
c.324C>A (p.Thr108=)
c.693C>A (p.Thr231=)
c.188C>A (p.Pro63Gln)
c.288C>A (p.Thr96=)
n.496C>A
n.631C>A
c.297C>A (p.Thr99=)
c.287C>A
c.111+160C>A (n.111+160C>A)
c.443-3376C>A (n.443-3376C>A)
c.*406C>A (n.*406C>A)
c.270C>A (p.Thr90=)
c.606C>A (p.Thr202=)
6g.31933943C>GCA363366588C2c.507C>G (p.Thr169=)
c.324C>G (p.Thr108=)
c.693C>G (p.Thr231=)
c.188C>G (p.Pro63Arg)
c.288C>G (p.Thr96=)
n.496C>G
n.631C>G
c.297C>G (p.Thr99=)
c.287C>G
c.111+160C>G (n.111+160C>G)
c.443-3376C>G (n.443-3376C>G)
c.*406C>G (n.*406C>G)
c.270C>G (p.Thr90=)
c.606C>G (p.Thr202=)
6g.31933943C>TCA363366590C2c.507C>T (p.Thr169=)
c.324C>T (p.Thr108=)
c.693C>T (p.Thr231=)
c.188C>T (p.Pro63Leu)
c.288C>T (p.Thr96=)
n.496C>T
n.631C>T
c.297C>T (p.Thr99=)
c.287C>T
c.111+160C>T (n.111+160C>T)
c.443-3376C>T (n.443-3376C>T)
c.*406C>T (n.*406C>T)
c.270C>T (p.Thr90=)
c.606C>T (p.Thr202=)
6g.31933944A>CCA363366602C2c.508A>C (p.Asn170His)
c.325A>C (p.Asn109His)
c.694A>C (p.Asn232His)
c.189A>C (p.Pro63=)
c.289A>C (p.Asn97His)
n.497A>C
n.632A>C
c.298A>C (p.Asn100His)
c.288A>C
c.111+161A>C (n.111+161A>C)
c.443-3375A>C (n.443-3375A>C)
c.*407A>C (n.*407A>C)
c.271A>C (p.Asn91His)
c.607A>C (p.Asn203His)
6g.31933944A>GCA363366607C2c.508A>G (p.Asn170Asp)
c.325A>G (p.Asn109Asp)
c.694A>G (p.Asn232Asp)
c.189A>G (p.Pro63=)
c.289A>G (p.Asn97Asp)
n.497A>G
n.632A>G
c.298A>G (p.Asn100Asp)
c.288A>G
c.111+161A>G (n.111+161A>G)
c.443-3375A>G (n.443-3375A>G)
c.*407A>G (n.*407A>G)
c.271A>G (p.Asn91Asp)
c.607A>G (p.Asn203Asp)
6g.31933944A>TCA363366610C2c.508A>T (p.Asn170Tyr)
c.325A>T (p.Asn109Tyr)
c.694A>T (p.Asn232Tyr)
c.189A>T (p.Pro63=)
c.289A>T (p.Asn97Tyr)
n.497A>T
n.632A>T
c.298A>T (p.Asn100Tyr)
c.288A>T
c.111+161A>T (n.111+161A>T)
c.443-3375A>T (n.443-3375A>T)
c.*407A>T (n.*407A>T)
c.271A>T (p.Asn91Tyr)
c.607A>T (p.Asn203Tyr)
6g.31933945A>CCA363366613C2c.509A>C (p.Asn170Thr)
c.326A>C (p.Asn109Thr)
c.695A>C (p.Asn232Thr)
c.190A>C (p.Ile64Leu)
c.290A>C (p.Asn97Thr)
n.498A>C
n.633A>C
c.299A>C (p.Asn100Thr)
c.289A>C
c.111+162A>C (n.111+162A>C)
c.443-3374A>C (n.443-3374A>C)
c.*408A>C (n.*408A>C)
c.272A>C (p.Asn91Thr)
c.608A>C (p.Asn203Thr)
6g.31933945A>GCA363366620C2c.509A>G (p.Asn170Ser)
c.326A>G (p.Asn109Ser)
c.695A>G (p.Asn232Ser)
c.190A>G (p.Ile64Val)
c.290A>G (p.Asn97Ser)
n.498A>G
n.633A>G
c.299A>G (p.Asn100Ser)
c.289A>G
c.111+162A>G (n.111+162A>G)
c.443-3374A>G (n.443-3374A>G)
c.*408A>G (n.*408A>G)
c.272A>G (p.Asn91Ser)
c.608A>G (p.Asn203Ser)
6g.31933945A>TCA363366615C2c.509A>T (p.Asn170Ile)
c.326A>T (p.Asn109Ile)
c.695A>T (p.Asn232Ile)
c.190A>T (p.Ile64Phe)
c.290A>T (p.Asn97Ile)
n.498A>T
n.633A>T
c.299A>T (p.Asn100Ile)
c.289A>T
c.111+162A>T (n.111+162A>T)
c.443-3374A>T (n.443-3374A>T)
c.*408A>T (n.*408A>T)
c.272A>T (p.Asn91Ile)
c.608A>T (p.Asn203Ile)
6g.31933946T>ACA363366622C2c.510T>A (p.Asn170Lys)
c.327T>A (p.Asn109Lys)
c.696T>A (p.Asn232Lys)
c.191T>A (p.Ile64Asn)
c.291T>A (p.Asn97Lys)
n.499T>A
n.634T>A
c.300T>A (p.Asn100Lys)
c.290T>A
c.111+163T>A (n.111+163T>A)
c.443-3373T>A (n.443-3373T>A)
c.*409T>A (n.*409T>A)
c.273T>A (p.Asn91Lys)
c.609T>A (p.Asn203Lys)
6g.31933946T>CCA363366625C2c.510T>C (p.Asn170=)
c.327T>C (p.Asn109=)
c.696T>C (p.Asn232=)
c.191T>C (p.Ile64Thr)
c.291T>C (p.Asn97=)
n.499T>C
n.634T>C
c.300T>C (p.Asn100=)
c.290T>C
c.111+163T>C (n.111+163T>C)
c.443-3373T>C (n.443-3373T>C)
c.*409T>C (n.*409T>C)
c.273T>C (p.Asn91=)
c.609T>C (p.Asn203=)
 dbSNP
6g.31933946T>GCA363366638C2c.510T>G (p.Asn170Lys)
c.327T>G (p.Asn109Lys)
c.696T>G (p.Asn232Lys)
c.191T>G (p.Ile64Ser)
c.291T>G (p.Asn97Lys)
n.499T>G
n.634T>G
c.300T>G (p.Asn100Lys)
c.290T>G
c.111+163T>G (n.111+163T>G)
c.443-3373T>G (n.443-3373T>G)
c.*409T>G (n.*409T>G)
c.273T>G (p.Asn91Lys)
c.609T>G (p.Asn203Lys)
6g.31933946T=CA1619369926C2c.510T= (p.Asn170=)
c.327T= (p.Asn109=)
c.696T= (p.Asn232=)
c.191T= (p.Ile64=)
c.291T= (p.Asn97=)
n.499T=
n.634T=
c.300T= (p.Asn100=)
c.290T=
c.111+163T= (n.111+163T=)
c.443-3373T= (n.443-3373T=)
c.*409T= (n.*409T=)
c.273T= (p.Asn91=)
c.609T= (p.Asn203=)
6g.31933947C>ACA363366642C2c.511C>A (p.Pro171Thr)
c.328C>A (p.Pro110Thr)
c.697C>A (p.Pro233Thr)
c.192C>A (p.Ile64=)
c.292C>A (p.Pro98Thr)
n.500C>A
n.635C>A
c.301C>A (p.Pro101Thr)
c.291C>A
c.111+164C>A (n.111+164C>A)
c.443-3372C>A (n.443-3372C>A)
c.*410C>A (n.*410C>A)
c.274C>A (p.Pro92Thr)
c.610C>A (p.Pro204Thr)
6g.31933947C=CA1619369927C2c.511C= (p.Pro171=)
c.328C= (p.Pro110=)
c.697C= (p.Pro233=)
c.192C= (p.Ile64=)
c.292C= (p.Pro98=)
n.500C=
n.635C=
c.301C= (p.Pro101=)
c.291C=
c.111+164C= (n.111+164C=)
c.443-3372C= (n.443-3372C=)
c.*410C= (n.*410C=)
c.274C= (p.Pro92=)
c.610C= (p.Pro204=)
6g.31933947C>GCA363366643C2c.511C>G (p.Pro171Ala)
c.328C>G (p.Pro110Ala)
c.697C>G (p.Pro233Ala)
c.192C>G (p.Ile64Met)
c.292C>G (p.Pro98Ala)
n.500C>G
n.635C>G
c.301C>G (p.Pro101Ala)
c.291C>G
c.111+164C>G (n.111+164C>G)
c.443-3372C>G (n.443-3372C>G)
c.*410C>G (n.*410C>G)
c.274C>G (p.Pro92Ala)
c.610C>G (p.Pro204Ala)
6g.31933947C>TCA363366648C2c.511C>T (p.Pro171Ser)
c.328C>T (p.Pro110Ser)
c.697C>T (p.Pro233Ser)
c.192C>T (p.Ile64=)
c.292C>T (p.Pro98Ser)
n.500C>T
n.635C>T
c.301C>T (p.Pro101Ser)
c.291C>T
c.111+164C>T (n.111+164C>T)
c.443-3372C>T (n.443-3372C>T)
c.*410C>T (n.*410C>T)
c.274C>T (p.Pro92Ser)
c.610C>T (p.Pro204Ser)
 dbSNP gnomAD v2 COSMIC
6g.31933948C>ACA363366650C2c.512C>A (p.Pro171His)
c.329C>A (p.Pro110His)
c.698C>A (p.Pro233His)
c.193C>A (p.Pro65Thr)
c.293C>A (p.Pro98His)
n.501C>A
n.636C>A
c.302C>A (p.Pro101His)
c.292C>A
c.111+165C>A (n.111+165C>A)
c.443-3371C>A (n.443-3371C>A)
c.*411C>A (n.*411C>A)
c.275C>A (p.Pro92His)
c.611C>A (p.Pro204His)
6g.31933948C>GCA363366653C2c.512C>G (p.Pro171Arg)
c.329C>G (p.Pro110Arg)
c.698C>G (p.Pro233Arg)
c.193C>G (p.Pro65Ala)
c.293C>G (p.Pro98Arg)
n.501C>G
n.636C>G
c.302C>G (p.Pro101Arg)
c.292C>G
c.111+165C>G (n.111+165C>G)
c.443-3371C>G (n.443-3371C>G)
c.*411C>G (n.*411C>G)
c.275C>G (p.Pro92Arg)
c.611C>G (p.Pro204Arg)
6g.31933948C>TCA363366655C2c.512C>T (p.Pro171Leu)
c.329C>T (p.Pro110Leu)
c.698C>T (p.Pro233Leu)
c.193C>T (p.Pro65Ser)
c.293C>T (p.Pro98Leu)
n.501C>T
n.636C>T
c.302C>T (p.Pro101Leu)
c.292C>T
c.111+165C>T (n.111+165C>T)
c.443-3371C>T (n.443-3371C>T)
c.*411C>T (n.*411C>T)
c.275C>T (p.Pro92Leu)
c.611C>T (p.Pro204Leu)
 gnomAD v4 COSMIC
6g.31933949C>ACA363366659C2c.513C>A (p.Pro171=)
c.330C>A (p.Pro110=)
c.699C>A (p.Pro233=)
c.194C>A (p.Pro65Gln)
c.294C>A (p.Pro98=)
n.502C>A
n.637C>A
c.303C>A (p.Pro101=)
c.293C>A
c.111+166C>A (n.111+166C>A)
c.443-3370C>A (n.443-3370C>A)
c.*412C>A (n.*412C>A)
c.276C>A (p.Pro92=)
c.612C>A (p.Pro204=)
6g.31933949C=CA1619369928C2c.513C= (p.Pro171=)
c.330C= (p.Pro110=)
c.699C= (p.Pro233=)
c.194C= (p.Pro65=)
c.294C= (p.Pro98=)
n.502C=
n.637C=
c.303C= (p.Pro101=)
c.293C=
c.111+166C= (n.111+166C=)
c.443-3370C= (n.443-3370C=)
c.*412C= (n.*412C=)
c.276C= (p.Pro92=)
c.612C= (p.Pro204=)
6g.31933949C>GCA363366662C2c.513C>G (p.Pro171=)
c.330C>G (p.Pro110=)
c.699C>G (p.Pro233=)
c.194C>G (p.Pro65Arg)
c.294C>G (p.Pro98=)
n.502C>G
n.637C>G
c.303C>G (p.Pro101=)
c.293C>G
c.111+166C>G (n.111+166C>G)
c.443-3370C>G (n.443-3370C>G)
c.*412C>G (n.*412C>G)
c.276C>G (p.Pro92=)
c.612C>G (p.Pro204=)
6g.31933949C>TCA3727472C2c.513C>T (p.Pro171=)
c.330C>T (p.Pro110=)
c.699C>T (p.Pro233=)
c.194C>T (p.Pro65Leu)
c.294C>T (p.Pro98=)
n.502C>T
n.637C>T
c.303C>T (p.Pro101=)
c.293C>T
c.111+166C>T (n.111+166C>T)
c.443-3370C>T (n.443-3370C>T)
c.*412C>T (n.*412C>T)
c.276C>T (p.Pro92=)
c.612C>T (p.Pro204=)
 dbSNP ExAC gnomAD v2
6g.31933950A>CCA363366676C2c.514A>C (p.Thr172Pro)
c.331A>C (p.Thr111Pro)
c.700A>C (p.Thr234Pro)
c.195A>C (p.Pro65=)
c.295A>C (p.Thr99Pro)
n.503A>C
n.638A>C
c.304A>C (p.Thr102Pro)
c.294A>C
c.111+167A>C (n.111+167A>C)
c.443-3369A>C (n.443-3369A>C)
c.*413A>C (n.*413A>C)
c.277A>C (p.Thr93Pro)
c.613A>C (p.Thr205Pro)
6g.31933950A>GCA363366673C2c.514A>G (p.Thr172Ala)
c.331A>G (p.Thr111Ala)
c.700A>G (p.Thr234Ala)
c.195A>G (p.Pro65=)
c.295A>G (p.Thr99Ala)
n.503A>G
n.638A>G
c.304A>G (p.Thr102Ala)
c.294A>G
c.111+167A>G (n.111+167A>G)
c.443-3369A>G (n.443-3369A>G)
c.*413A>G (n.*413A>G)
c.277A>G (p.Thr93Ala)
c.613A>G (p.Thr205Ala)
6g.31933950A>TCA363366671C2c.514A>T (p.Thr172Ser)
c.331A>T (p.Thr111Ser)
c.700A>T (p.Thr234Ser)
c.195A>T (p.Pro65=)
c.295A>T (p.Thr99Ser)
n.503A>T
n.638A>T
c.304A>T (p.Thr102Ser)
c.294A>T
c.111+167A>T (n.111+167A>T)
c.443-3369A>T (n.443-3369A>T)
c.*413A>T (n.*413A>T)
c.277A>T (p.Thr93Ser)
c.613A>T (p.Thr205Ser)
6g.31933951C>ACA363366695C2c.515C>A (p.Thr172Asn)
c.332C>A (p.Thr111Asn)
c.701C>A (p.Thr234Asn)
c.196C>A (p.Pro66Thr)
c.296C>A (p.Thr99Asn)
n.504C>A
n.639C>A
c.305C>A (p.Thr102Asn)
c.295C>A
c.111+168C>A (n.111+168C>A)
c.443-3368C>A (n.443-3368C>A)
c.*414C>A (n.*414C>A)
c.278C>A (p.Thr93Asn)
c.614C>A (p.Thr205Asn)
6g.31933951C>GCA363366698C2c.515C>G (p.Thr172Ser)
c.332C>G (p.Thr111Ser)
c.701C>G (p.Thr234Ser)
c.196C>G (p.Pro66Ala)
c.296C>G (p.Thr99Ser)
n.504C>G
n.639C>G
c.305C>G (p.Thr102Ser)
c.295C>G
c.111+168C>G (n.111+168C>G)
c.443-3368C>G (n.443-3368C>G)
c.*414C>G (n.*414C>G)
c.278C>G (p.Thr93Ser)
c.614C>G (p.Thr205Ser)
6g.31933951C>TCA363366701C2c.515C>T (p.Thr172Ile)
c.332C>T (p.Thr111Ile)
c.701C>T (p.Thr234Ile)
c.196C>T (p.Pro66Ser)
c.296C>T (p.Thr99Ile)
n.504C>T
n.639C>T
c.305C>T (p.Thr102Ile)
c.295C>T
c.111+168C>T (n.111+168C>T)
c.443-3368C>T (n.443-3368C>T)
c.*414C>T (n.*414C>T)
c.278C>T (p.Thr93Ile)
c.614C>T (p.Thr205Ile)
6g.31933952C>ACA363366709C2c.516C>A (p.Thr172=)
c.333C>A (p.Thr111=)
c.702C>A (p.Thr234=)
c.197C>A (p.Pro66His)
c.297C>A (p.Thr99=)
n.505C>A
n.640C>A
c.306C>A (p.Thr102=)
c.296C>A
c.111+169C>A (n.111+169C>A)
c.443-3367C>A (n.443-3367C>A)
c.*415C>A (n.*415C>A)
c.279C>A (p.Thr93=)
c.615C>A (p.Thr205=)
6g.31933952C=CA1619369929C2c.516C= (p.Thr172=)
c.333C= (p.Thr111=)
c.702C= (p.Thr234=)
c.197C= (p.Pro66=)
c.297C= (p.Thr99=)
n.505C=
n.640C=
c.306C= (p.Thr102=)
c.296C=
c.111+169C= (n.111+169C=)
c.443-3367C= (n.443-3367C=)
c.*415C= (n.*415C=)
c.279C= (p.Thr93=)
c.615C= (p.Thr205=)
6g.31933952C>GCA363366710C2c.516C>G (p.Thr172=)
c.333C>G (p.Thr111=)
c.702C>G (p.Thr234=)
c.197C>G (p.Pro66Arg)
c.297C>G (p.Thr99=)
n.505C>G
n.640C>G
c.306C>G (p.Thr102=)
c.296C>G
c.111+169C>G (n.111+169C>G)
c.443-3367C>G (n.443-3367C>G)
c.*415C>G (n.*415C>G)
c.279C>G (p.Thr93=)
c.615C>G (p.Thr205=)
 gnomAD v4
6g.31933952C>TCA363366712C2c.516C>T (p.Thr172=)
c.333C>T (p.Thr111=)
c.702C>T (p.Thr234=)
c.197C>T (p.Pro66Leu)
c.297C>T (p.Thr99=)
n.505C>T
n.640C>T
c.306C>T (p.Thr102=)
c.296C>T
c.111+169C>T (n.111+169C>T)
c.443-3367C>T (n.443-3367C>T)
c.*415C>T (n.*415C>T)
c.279C>T (p.Thr93=)
c.615C>T (p.Thr205=)
 dbSNP gnomAD v3 gnomAD v4
6g.31933953C>ACA363366716C2c.517C>A (p.Gln173Lys)
c.334C>A (p.Gln112Lys)
c.703C>A (p.Gln235Lys)
c.198C>A (p.Pro66=)
c.298C>A (p.Gln100Lys)
n.506C>A
n.641C>A
c.307C>A (p.Gln103Lys)
c.297C>A
c.111+170C>A (n.111+170C>A)
c.443-3366C>A (n.443-3366C>A)
c.*416C>A (n.*416C>A)
c.280C>A (p.Gln94Lys)
c.616C>A (p.Gln206Lys)
 dbSNP gnomAD v2 gnomAD v4
6g.31933953C=CA1619369930C2c.517C= (p.Gln173=)
c.334C= (p.Gln112=)
c.703C= (p.Gln235=)
c.198C= (p.Pro66=)
c.298C= (p.Gln100=)
n.506C=
n.641C=
c.307C= (p.Gln103=)
c.297C=
c.111+170C= (n.111+170C=)
c.443-3366C= (n.443-3366C=)
c.*416C= (n.*416C=)
c.280C= (p.Gln94=)
c.616C= (p.Gln206=)
6g.31933953C>GCA363366717C2c.517C>G (p.Gln173Glu)
c.334C>G (p.Gln112Glu)
c.703C>G (p.Gln235Glu)
c.198C>G (p.Pro66=)
c.298C>G (p.Gln100Glu)
n.506C>G
n.641C>G
c.307C>G (p.Gln103Glu)
c.297C>G
c.111+170C>G (n.111+170C>G)
c.443-3366C>G (n.443-3366C>G)
c.*416C>G (n.*416C>G)
c.280C>G (p.Gln94Glu)
c.616C>G (p.Gln206Glu)
6g.31933953C>TCA363366721C2c.517C>T (p.Gln173Ter)
c.334C>T (p.Gln112Ter)
c.703C>T (p.Gln235Ter)
c.198C>T (p.Pro66=)
c.298C>T (p.Gln100Ter)
n.506C>T
n.641C>T
c.307C>T (p.Gln103Ter)
c.297C>T
c.111+170C>T (n.111+170C>T)
c.443-3366C>T (n.443-3366C>T)
c.*416C>T (n.*416C>T)
c.280C>T (p.Gln94Ter)
c.616C>T (p.Gln206Ter)
6g.31933954A=CA1619369931C2c.518A= (p.Gln173=)
c.335A= (p.Gln112=)
c.704A= (p.Gln235=)
c.199A= (p.Arg67=)
c.299A= (p.Gln100=)
n.507A=
n.642A=
c.308A= (p.Gln103=)
c.298A=
c.111+171A= (n.111+171A=)
c.443-3365A= (n.443-3365A=)
c.*417A= (n.*417A=)
c.281A= (p.Gln94=)
c.617A= (p.Gln206=)
6g.31933954A>CCA363366724C2c.518A>C (p.Gln173Pro)
c.335A>C (p.Gln112Pro)
c.704A>C (p.Gln235Pro)
c.199A>C (p.Arg67=)
c.299A>C (p.Gln100Pro)
n.507A>C
n.642A>C
c.308A>C (p.Gln103Pro)
c.298A>C
c.111+171A>C (n.111+171A>C)
c.443-3365A>C (n.443-3365A>C)
c.*417A>C (n.*417A>C)
c.281A>C (p.Gln94Pro)
c.617A>C (p.Gln206Pro)
6g.31933954A>GCA3727473C2c.518A>G (p.Gln173Arg)
c.335A>G (p.Gln112Arg)
c.704A>G (p.Gln235Arg)
c.199A>G (p.Arg67Gly)
c.299A>G (p.Gln100Arg)
n.507A>G
n.642A>G
c.308A>G (p.Gln103Arg)
c.298A>G
c.111+171A>G (n.111+171A>G)
c.443-3365A>G (n.443-3365A>G)
c.*417A>G (n.*417A>G)
c.281A>G (p.Gln94Arg)
c.617A>G (p.Gln206Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.31933954A>TCA363366727C2c.518A>T (p.Gln173Leu)
c.335A>T (p.Gln112Leu)
c.704A>T (p.Gln235Leu)
c.199A>T (p.Arg67Ter)
c.299A>T (p.Gln100Leu)
n.507A>T
n.642A>T
c.308A>T (p.Gln103Leu)
c.298A>T
c.111+171A>T (n.111+171A>T)
c.443-3365A>T (n.443-3365A>T)
c.*417A>T (n.*417A>T)
c.281A>T (p.Gln94Leu)
c.617A>T (p.Gln206Leu)
6g.31933955G>ACA363366730C2c.519G>A (p.Gln173=)
c.336G>A (p.Gln112=)
c.705G>A (p.Gln235=)
c.200G>A (p.Arg67Lys)
c.300G>A (p.Gln100=)
n.508G>A
n.643G>A
c.309G>A (p.Gln103=)
c.299G>A
c.111+172G>A (n.111+172G>A)
c.443-3364G>A (n.443-3364G>A)
c.*418G>A (n.*418G>A)
c.282G>A (p.Gln94=)
c.618G>A (p.Gln206=)
6g.31933955G>CCA363366735C2c.519G>C (p.Gln173His)
c.336G>C (p.Gln112His)
c.705G>C (p.Gln235His)
c.200G>C (p.Arg67Thr)
c.300G>C (p.Gln100His)
n.508G>C
n.643G>C
c.309G>C (p.Gln103His)
c.299G>C
c.111+172G>C (n.111+172G>C)
c.443-3364G>C (n.443-3364G>C)
c.*418G>C (n.*418G>C)
c.282G>C (p.Gln94His)
c.618G>C (p.Gln206His)
6g.31933955G>TCA363366732C2c.519G>T (p.Gln173His)
c.336G>T (p.Gln112His)
c.705G>T (p.Gln235His)
c.200G>T (p.Arg67Ile)
c.300G>T (p.Gln100His)
n.508G>T
n.643G>T
c.309G>T (p.Gln103His)
c.299G>T
c.111+172G>T (n.111+172G>T)
c.443-3364G>T (n.443-3364G>T)
c.*418G>T (n.*418G>T)
c.282G>T (p.Gln94His)
c.618G>T (p.Gln206His)
6g.31933956A>CCA363366739C2c.520A>C (p.Lys174Gln)
c.337A>C (p.Lys113Gln)
c.706A>C (p.Lys236Gln)
c.201A>C (p.Arg67Ser)
c.301A>C (p.Lys101Gln)
n.509A>C
n.644A>C
c.310A>C (p.Lys104Gln)
c.300A>C
c.111+173A>C (n.111+173A>C)
c.443-3363A>C (n.443-3363A>C)
c.*419A>C (n.*419A>C)
c.283A>C (p.Lys95Gln)
c.619A>C (p.Lys207Gln)
6g.31933956A>GCA363366743C2c.520A>G (p.Lys174Glu)
c.337A>G (p.Lys113Glu)
c.706A>G (p.Lys236Glu)
c.201A>G (p.Arg67=)
c.301A>G (p.Lys101Glu)
n.509A>G
n.644A>G
c.310A>G (p.Lys104Glu)
c.300A>G
c.111+173A>G (n.111+173A>G)
c.443-3363A>G (n.443-3363A>G)
c.*419A>G (n.*419A>G)
c.283A>G (p.Lys95Glu)
c.619A>G (p.Lys207Glu)
6g.31933956A>TCA363366741C2c.520A>T (p.Lys174Ter)
c.337A>T (p.Lys113Ter)
c.706A>T (p.Lys236Ter)
c.201A>T (p.Arg67Ser)
c.301A>T (p.Lys101Ter)
n.509A>T
n.644A>T
c.310A>T (p.Lys104Ter)
c.300A>T
c.111+173A>T (n.111+173A>T)
c.443-3363A>T (n.443-3363A>T)
c.*419A>T (n.*419A>T)
c.283A>T (p.Lys95Ter)
c.619A>T (p.Lys207Ter)
6g.31933957A>CCA363366747C2c.521A>C (p.Lys174Thr)
c.338A>C (p.Lys113Thr)
c.707A>C (p.Lys236Thr)
c.202A>C (p.Arg68=)
c.302A>C (p.Lys101Thr)
n.510A>C
n.645A>C
c.311A>C (p.Lys104Thr)
c.301A>C
c.111+174A>C (n.111+174A>C)
c.443-3362A>C (n.443-3362A>C)
c.*420A>C (n.*420A>C)
c.284A>C (p.Lys95Thr)
c.620A>C (p.Lys207Thr)
6g.31933957A>GCA363366751C2c.521A>G (p.Lys174Arg)
c.338A>G (p.Lys113Arg)
c.707A>G (p.Lys236Arg)
c.202A>G (p.Arg68Gly)
c.302A>G (p.Lys101Arg)
n.510A>G
n.645A>G
c.311A>G (p.Lys104Arg)
c.301A>G
c.111+174A>G (n.111+174A>G)
c.443-3362A>G (n.443-3362A>G)
c.*420A>G (n.*420A>G)
c.284A>G (p.Lys95Arg)
c.620A>G (p.Lys207Arg)
 gnomAD v4
6g.31933957A>TCA363366749C2c.521A>T (p.Lys174Met)
c.338A>T (p.Lys113Met)
c.707A>T (p.Lys236Met)
c.202A>T (p.Arg68Ter)
c.302A>T (p.Lys101Met)
n.510A>T
n.645A>T
c.311A>T (p.Lys104Met)
c.301A>T
c.111+174A>T (n.111+174A>T)
c.443-3362A>T (n.443-3362A>T)
c.*420A>T (n.*420A>T)
c.284A>T (p.Lys95Met)
c.620A>T (p.Lys207Met)
6g.31933958G>ACA363366756C2c.522G>A (p.Lys174=)
c.339G>A (p.Lys113=)
c.708G>A (p.Lys236=)
c.203G>A (p.Arg68Lys)
c.303G>A (p.Lys101=)
n.511G>A
n.646G>A
c.312G>A (p.Lys104=)
c.302G>A
c.111+175G>A (n.111+175G>A)
c.443-3361G>A (n.443-3361G>A)
c.*421G>A (n.*421G>A)
c.285G>A (p.Lys95=)
c.621G>A (p.Lys207=)
6g.31933958G>CCA363366761C2c.522G>C (p.Lys174Asn)
c.339G>C (p.Lys113Asn)
c.708G>C (p.Lys236Asn)
c.203G>C (p.Arg68Thr)
c.303G>C (p.Lys101Asn)
n.511G>C
n.646G>C
c.312G>C (p.Lys104Asn)
c.302G>C
c.111+175G>C (n.111+175G>C)
c.443-3361G>C (n.443-3361G>C)
c.*421G>C (n.*421G>C)
c.285G>C (p.Lys95Asn)
c.621G>C (p.Lys207Asn)
6g.31933958G>TCA363366759C2c.522G>T (p.Lys174Asn)
c.339G>T (p.Lys113Asn)
c.708G>T (p.Lys236Asn)
c.203G>T (p.Arg68Ile)
c.303G>T (p.Lys101Asn)
n.511G>T
n.646G>T
c.312G>T (p.Lys104Asn)
c.302G>T
c.111+175G>T (n.111+175G>T)
c.443-3361G>T (n.443-3361G>T)
c.*421G>T (n.*421G>T)
c.285G>T (p.Lys95Asn)
c.621G>T (p.Lys207Asn)
 gnomAD v4
6g.31933959A>CCA363366767C2c.523A>C (p.Thr175Pro)
c.340A>C (p.Thr114Pro)
c.709A>C (p.Thr237Pro)
c.204A>C (p.Arg68Ser)
c.304A>C (p.Thr102Pro)
n.512A>C
n.647A>C
c.313A>C (p.Thr105Pro)
c.303A>C
c.111+176A>C (n.111+176A>C)
c.443-3360A>C (n.443-3360A>C)
c.*422A>C (n.*422A>C)
c.286A>C (p.Thr96Pro)
c.622A>C (p.Thr208Pro)
6g.31933959A>GCA363366770C2c.523A>G (p.Thr175Ala)
c.340A>G (p.Thr114Ala)
c.709A>G (p.Thr237Ala)
c.204A>G (p.Arg68=)
c.304A>G (p.Thr102Ala)
n.512A>G
n.647A>G
c.313A>G (p.Thr105Ala)
c.303A>G
c.111+176A>G (n.111+176A>G)
c.443-3360A>G (n.443-3360A>G)
c.*422A>G (n.*422A>G)
c.286A>G (p.Thr96Ala)
c.622A>G (p.Thr208Ala)
6g.31933959A>TCA363366773C2c.523A>T (p.Thr175Ser)
c.340A>T (p.Thr114Ser)
c.709A>T (p.Thr237Ser)
c.204A>T (p.Arg68Ser)
c.304A>T (p.Thr102Ser)
n.512A>T
n.647A>T
c.313A>T (p.Thr105Ser)
c.303A>T
c.111+176A>T (n.111+176A>T)
c.443-3360A>T (n.443-3360A>T)
c.*422A>T (n.*422A>T)
c.286A>T (p.Thr96Ser)
c.622A>T (p.Thr208Ser)
6g.31933960C>ACA363366780C2c.524C>A (p.Thr175Lys)
c.341C>A (p.Thr114Lys)
c.710C>A (p.Thr237Lys)
c.205C>A (p.Gln69Lys)
c.305C>A (p.Thr102Lys)
n.513C>A
n.648C>A
c.314C>A (p.Thr105Lys)
c.304C>A
c.111+177C>A (n.111+177C>A)
c.443-3359C>A (n.443-3359C>A)
c.*423C>A (n.*423C>A)
c.287C>A (p.Thr96Lys)
c.623C>A (p.Thr208Lys)
6g.31933960C>GCA363366785C2c.524C>G (p.Thr175Arg)
c.341C>G (p.Thr114Arg)
c.710C>G (p.Thr237Arg)
c.205C>G (p.Gln69Glu)
c.305C>G (p.Thr102Arg)
n.513C>G
n.648C>G
c.314C>G (p.Thr105Arg)
c.304C>G
c.111+177C>G (n.111+177C>G)
c.443-3359C>G (n.443-3359C>G)
c.*423C>G (n.*423C>G)
c.287C>G (p.Thr96Arg)
c.623C>G (p.Thr208Arg)
6g.31933960C>TCA363366786C2c.524C>T (p.Thr175Ile)
c.341C>T (p.Thr114Ile)
c.710C>T (p.Thr237Ile)
c.205C>T (p.Gln69Ter)
c.305C>T (p.Thr102Ile)
n.513C>T
n.648C>T
c.314C>T (p.Thr105Ile)
c.304C>T
c.111+177C>T (n.111+177C>T)
c.443-3359C>T (n.443-3359C>T)
c.*423C>T (n.*423C>T)
c.287C>T (p.Thr96Ile)
c.623C>T (p.Thr208Ile)
6g.31933961A=CA1619369932C2c.525A= (p.Thr175=)
c.342A= (p.Thr114=)
c.711A= (p.Thr237=)
c.206A= (p.Gln69=)
c.306A= (p.Thr102=)
n.514A=
n.649A=
c.315A= (p.Thr105=)
c.305A=
c.111+178A= (n.111+178A=)
c.443-3358A= (n.443-3358A=)
c.*424A= (n.*424A=)
c.288A= (p.Thr96=)
c.624A= (p.Thr208=)
6g.31933961A>CCA363366790C2c.525A>C (p.Thr175=)
c.342A>C (p.Thr114=)
c.711A>C (p.Thr237=)
c.206A>C (p.Gln69Pro)
c.306A>C (p.Thr102=)
n.514A>C
n.649A>C
c.315A>C (p.Thr105=)
c.305A>C
c.111+178A>C (n.111+178A>C)
c.443-3358A>C (n.443-3358A>C)
c.*424A>C (n.*424A>C)
c.288A>C (p.Thr96=)
c.624A>C (p.Thr208=)
 gnomAD v4
6g.31933961A>GCA363366792C2c.525A>G (p.Thr175=)
c.342A>G (p.Thr114=)
c.711A>G (p.Thr237=)
c.206A>G (p.Gln69Arg)
c.306A>G (p.Thr102=)
n.514A>G
n.649A>G
c.315A>G (p.Thr105=)
c.305A>G
c.111+178A>G (n.111+178A>G)
c.443-3358A>G (n.443-3358A>G)
c.*424A>G (n.*424A>G)
c.288A>G (p.Thr96=)
c.624A>G (p.Thr208=)
 dbSNP gnomAD v2 gnomAD v4
6g.31933961A>TCA363366802C2c.525A>T (p.Thr175=)
c.342A>T (p.Thr114=)
c.711A>T (p.Thr237=)
c.206A>T (p.Gln69Leu)
c.306A>T (p.Thr102=)
n.514A>T
n.649A>T
c.315A>T (p.Thr105=)
c.305A>T
c.111+178A>T (n.111+178A>T)
c.443-3358A>T (n.443-3358A>T)
c.*424A>T (n.*424A>T)
c.288A>T (p.Thr96=)
c.624A>T (p.Thr208=)
6g.31933962A>CCA363366807C2c.526A>C (p.Lys176Gln)
c.343A>C (p.Lys115Gln)
c.712A>C (p.Lys238Gln)
c.207A>C (p.Gln69His)
c.307A>C (p.Lys103Gln)
n.515A>C
n.650A>C
c.316A>C (p.Lys106Gln)
c.306A>C
c.111+179A>C (n.111+179A>C)
c.443-3357A>C (n.443-3357A>C)
c.*425A>C (n.*425A>C)
c.289A>C (p.Lys97Gln)
c.625A>C (p.Lys209Gln)
6g.31933962A>GCA363366809C2c.526A>G (p.Lys176Glu)
c.343A>G (p.Lys115Glu)
c.712A>G (p.Lys238Glu)
c.207A>G (p.Gln69=)
c.307A>G (p.Lys103Glu)
n.515A>G
n.650A>G
c.316A>G (p.Lys106Glu)
c.306A>G
c.111+179A>G (n.111+179A>G)
c.443-3357A>G (n.443-3357A>G)
c.*425A>G (n.*425A>G)
c.289A>G (p.Lys97Glu)
c.625A>G (p.Lys209Glu)
6g.31933962A>TCA363366812C2c.526A>T (p.Lys176Ter)
c.343A>T (p.Lys115Ter)
c.712A>T (p.Lys238Ter)
c.207A>T (p.Gln69His)
c.307A>T (p.Lys103Ter)
n.515A>T
n.650A>T
c.316A>T (p.Lys106Ter)
c.306A>T
c.111+179A>T (n.111+179A>T)
c.443-3357A>T (n.443-3357A>T)
c.*425A>T (n.*425A>T)
c.289A>T (p.Lys97Ter)
c.625A>T (p.Lys209Ter)
6g.31933963A>CCA363366814C2c.527A>C (p.Lys176Thr)
c.344A>C (p.Lys115Thr)
c.713A>C (p.Lys238Thr)
c.208A>C (p.Arg70=)
c.308A>C (p.Lys103Thr)
n.516A>C
n.651A>C
c.317A>C (p.Lys106Thr)
c.307A>C
c.111+180A>C (n.111+180A>C)
c.443-3356A>C (n.443-3356A>C)
c.*426A>C (n.*426A>C)
c.290A>C (p.Lys97Thr)
c.626A>C (p.Lys209Thr)
6g.31933963A>GCA363366817C2c.527A>G (p.Lys176Arg)
c.344A>G (p.Lys115Arg)
c.713A>G (p.Lys238Arg)
c.208A>G (p.Arg70Gly)
c.308A>G (p.Lys103Arg)
n.516A>G
n.651A>G
c.317A>G (p.Lys106Arg)
c.307A>G
c.111+180A>G (n.111+180A>G)
c.443-3356A>G (n.443-3356A>G)
c.*426A>G (n.*426A>G)
c.290A>G (p.Lys97Arg)
c.626A>G (p.Lys209Arg)
6g.31933963A>TCA363366815C2c.527A>T (p.Lys176Met)
c.344A>T (p.Lys115Met)
c.713A>T (p.Lys238Met)
c.208A>T (p.Arg70Trp)
c.308A>T (p.Lys103Met)
n.516A>T
n.651A>T
c.317A>T (p.Lys106Met)
c.307A>T
c.111+180A>T (n.111+180A>T)
c.443-3356A>T (n.443-3356A>T)
c.*426A>T (n.*426A>T)
c.290A>T (p.Lys97Met)
c.626A>T (p.Lys209Met)
6g.31933964G>ACA363366819C2c.528G>A (p.Lys176=)
c.345G>A (p.Lys115=)
c.714G>A (p.Lys238=)
c.209G>A (p.Arg70Lys)
c.309G>A (p.Lys103=)
n.517G>A
n.652G>A
c.318G>A (p.Lys106=)
c.308G>A
c.111+181G>A (n.111+181G>A)
c.443-3355G>A (n.443-3355G>A)
c.*427G>A (n.*427G>A)
c.291G>A (p.Lys97=)
c.627G>A (p.Lys209=)
6g.31933964G>CCA363366823C2c.528G>C (p.Lys176Asn)
c.345G>C (p.Lys115Asn)
c.714G>C (p.Lys238Asn)
c.209G>C (p.Arg70Thr)
c.309G>C (p.Lys103Asn)
n.517G>C
n.652G>C
c.318G>C (p.Lys106Asn)
c.308G>C
c.111+181G>C (n.111+181G>C)
c.443-3355G>C (n.443-3355G>C)
c.*427G>C (n.*427G>C)
c.291G>C (p.Lys97Asn)
c.627G>C (p.Lys209Asn)
6g.31933964G>TCA363366826C2c.528G>T (p.Lys176Asn)
c.345G>T (p.Lys115Asn)
c.714G>T (p.Lys238Asn)
c.209G>T (p.Arg70Met)
c.309G>T (p.Lys103Asn)
n.517G>T
n.652G>T
c.318G>T (p.Lys106Asn)
c.308G>T
c.111+181G>T (n.111+181G>T)
c.443-3355G>T (n.443-3355G>T)
c.*427G>T (n.*427G>T)
c.291G>T (p.Lys97Asn)
c.627G>T (p.Lys209Asn)
6g.31933965G>ACA363366835C2c.529G>A (p.Glu177Lys)
c.346G>A (p.Asp116Asn)
c.715G>A (p.Glu239Lys)
c.210G>A (p.Arg70=)
c.310G>A (p.Glu104Lys)
n.518G>A
n.653G>A
c.319G>A (p.Glu107Lys)
c.309G>A
c.346G>A (p.Glu116Lys)
c.529G>A (p.Asp177Asn)
c.111+182G>A (n.111+182G>A)
c.443-3354G>A (n.443-3354G>A)
c.*428G>A (n.*428G>A)
c.292G>A (p.Glu98Lys)
c.628G>A (p.Glu210Lys)
 COSMIC
6g.31933965G>CCA363366836C2c.529G>C (p.Glu177Gln)
c.346G>C (p.Asp116His)
c.715G>C (p.Glu239Gln)
c.210G>C (p.Arg70Ser)
c.310G>C (p.Glu104Gln)
n.518G>C
n.653G>C
c.319G>C (p.Glu107Gln)
c.309G>C
c.346G>C (p.Glu116Gln)
c.529G>C (p.Asp177His)
c.111+182G>C (n.111+182G>C)
c.443-3354G>C (n.443-3354G>C)
c.*428G>C (n.*428G>C)
c.292G>C (p.Glu98Gln)
c.628G>C (p.Glu210Gln)
6g.31933965G>TCA363366839C2c.529G>T (p.Glu177Ter)
c.346G>T (p.Asp116Tyr)
c.715G>T (p.Glu239Ter)
c.210G>T (p.Arg70Ser)
c.310G>T (p.Glu104Ter)
n.518G>T
n.653G>T
c.319G>T (p.Glu107Ter)
c.309G>T
c.346G>T (p.Glu116Ter)
c.529G>T (p.Asp177Tyr)
c.111+182G>T (n.111+182G>T)
c.443-3354G>T (n.443-3354G>T)
c.*428G>T (n.*428G>T)
c.292G>T (p.Glu98Ter)
c.628G>T (p.Glu210Ter)
6g.31933965_31933966insAAAGCCTGGGCCGTAAAATCCAAATCCAGCCA2711461123C2c.529_529+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.529_529+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC)
c.346_346+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.346_346+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC)
c.715_715+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.715_715+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC)
c.210_210+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.210_210+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC)
c.310_310+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.310_310+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC)
n.518_519insAAAGCCTGGGCCGTAAAATCCAAATCCAGC
n.653_654insAAAGCCTGGGCCGTAAAATCCAAATCCAGC
c.319_319+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.319_319+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC)
c.309_309+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC
c.111+182_111+183insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.111+182_111+183insAAAGCCTGGGCCGTAAAATCCAAATCCAGC)
c.443-3354_443-3353insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.443-3354_443-3353insAAAGCCTGGGCCGTAAAATCCAAATCCAGC)
c.*428_*428+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.*428_*428+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC)
c.292_292+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.292_292+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC)
c.628_628+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.628_628+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC)
 dbSNP
6g.31933966G>ACA363366841C2c.529+1G>A (n.529+1G>A)
c.346+1G>A (n.346+1G>A)
c.715+1G>A (n.715+1G>A)
c.210+1G>A (n.210+1G>A)
c.310+1G>A (n.310+1G>A)
n.519G>A
n.654G>A
c.319+1G>A (n.319+1G>A)
c.309+1G>A
c.111+183G>A (n.111+183G>A)
c.443-3353G>A (n.443-3353G>A)
c.*428+1G>A (n.*428+1G>A)
c.292+1G>A (n.292+1G>A)
c.628+1G>A (n.628+1G>A)
 dbSNP
6g.31933966G>CCA363366846C2c.529+1G>C (n.529+1G>C)
c.346+1G>C (n.346+1G>C)
c.715+1G>C (n.715+1G>C)
c.210+1G>C (n.210+1G>C)
c.310+1G>C (n.310+1G>C)
n.519G>C
n.654G>C
c.319+1G>C (n.319+1G>C)
c.309+1G>C
c.111+183G>C (n.111+183G>C)
c.443-3353G>C (n.443-3353G>C)
c.*428+1G>C (n.*428+1G>C)
c.292+1G>C (n.292+1G>C)
c.628+1G>C (n.628+1G>C)
6g.31933966G=CA1619369933C2c.529+1G= (n.529+1G=)
c.346+1G= (n.346+1G=)
c.715+1G= (n.715+1G=)
c.210+1G= (n.210+1G=)
c.310+1G= (n.310+1G=)
n.519G=
n.654G=
c.319+1G= (n.319+1G=)
c.309+1G=
c.111+183G= (n.111+183G=)
c.443-3353G= (n.443-3353G=)
c.*428+1G= (n.*428+1G=)
c.292+1G= (n.292+1G=)
c.628+1G= (n.628+1G=)
6g.31933966G>TCA363366849C2c.529+1G>T (n.529+1G>T)
c.346+1G>T (n.346+1G>T)
c.715+1G>T (n.715+1G>T)
c.210+1G>T (n.210+1G>T)
c.310+1G>T (n.310+1G>T)
n.519G>T
n.654G>T
c.319+1G>T (n.319+1G>T)
c.309+1G>T
c.111+183G>T (n.111+183G>T)
c.443-3353G>T (n.443-3353G>T)
c.*428+1G>T (n.*428+1G>T)
c.292+1G>T (n.292+1G>T)
c.628+1G>T (n.628+1G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.31933967T>ACA363366856C2c.529+2T>A (n.529+2T>A)
c.346+2T>A (n.346+2T>A)
c.715+2T>A (n.715+2T>A)
c.210+2T>A (n.210+2T>A)
c.310+2T>A (n.310+2T>A)
n.520T>A
n.655T>A
c.319+2T>A (n.319+2T>A)
c.309+2T>A
c.111+184T>A (n.111+184T>A)
c.443-3352T>A (n.443-3352T>A)
c.*428+2T>A (n.*428+2T>A)
c.292+2T>A (n.292+2T>A)
c.628+2T>A (n.628+2T>A)
6g.31933967T>CCA363366854C2c.529+2T>C (n.529+2T>C)
c.346+2T>C (n.346+2T>C)
c.715+2T>C (n.715+2T>C)
c.210+2T>C (n.210+2T>C)
c.310+2T>C (n.310+2T>C)
n.520T>C
n.655T>C
c.319+2T>C (n.319+2T>C)
c.309+2T>C
c.111+184T>C (n.111+184T>C)
c.443-3352T>C (n.443-3352T>C)
c.*428+2T>C (n.*428+2T>C)
c.292+2T>C (n.292+2T>C)
c.628+2T>C (n.628+2T>C)
6g.31933967T>GCA363366852C2c.529+2T>G (n.529+2T>G)
c.346+2T>G (n.346+2T>G)
c.715+2T>G (n.715+2T>G)
c.210+2T>G (n.210+2T>G)
c.310+2T>G (n.310+2T>G)
n.520T>G
n.655T>G
c.319+2T>G (n.319+2T>G)
c.309+2T>G
c.111+184T>G (n.111+184T>G)
c.443-3352T>G (n.443-3352T>G)
c.*428+2T>G (n.*428+2T>G)
c.292+2T>G (n.292+2T>G)
c.628+2T>G (n.628+2T>G)
6g.31933970G>CCA2545344405C2c.529+5G>C (n.529+5G>C)
c.346+5G>C (n.346+5G>C)
c.715+5G>C (n.715+5G>C)
c.210+5G>C (n.210+5G>C)
c.310+5G>C (n.310+5G>C)
n.523G>C
n.658G>C
c.319+5G>C (n.319+5G>C)
c.309+5G>C
c.111+187G>C (n.111+187G>C)
c.443-3349G>C (n.443-3349G>C)
c.*428+5G>C (n.*428+5G>C)
c.292+5G>C (n.292+5G>C)
c.628+5G>C (n.628+5G>C)
6g.31933970_31933974delinsGTGTTCA1619369934C2c.529+5_529+9delinsGTGTT (n.529+5_529+9delinsGTGTT)
c.346+5_346+9delinsGTGTT (n.346+5_346+9delinsGTGTT)
c.715+5_715+9delinsGTGTT (n.715+5_715+9delinsGTGTT)
c.210+5_210+9delinsGTGTT (n.210+5_210+9delinsGTGTT)
c.310+5_310+9delinsGTGTT (n.310+5_310+9delinsGTGTT)
n.523_527delinsGTGTT
c.319+5_319+9delinsGTGTT (n.319+5_319+9delinsGTGTT)
c.309+5_309+9delinsGTGTT
c.111+187_111+191delinsGTGTT (n.111+187_111+191delinsGTGTT)
c.443-3349_443-3345delinsGTGTT (n.443-3349_443-3345delinsGTGTT)
c.*428+5_*428+9delinsGTGTT (n.*428+5_*428+9delinsGTGTT)
c.292+5_292+9delinsGTGTT (n.292+5_292+9delinsGTGTT)
c.628+5_628+9delinsGTGTT (n.628+5_628+9delinsGTGTT)
6g.31933973_31933976delCA1619369935C2c.529+8_529+11del (n.529+8_529+11del)
c.346+8_346+11del (n.346+8_346+11del)
c.715+8_715+11del (n.715+8_715+11del)
c.210+8_210+11del (n.210+8_210+11del)
c.310+8_310+11del (n.310+8_310+11del)
c.319+8_319+11del (n.319+8_319+11del)
c.309+8_309+11del
c.111+190_111+193del (n.111+190_111+193del)
c.443-3346_443-3343del (n.443-3346_443-3343del)
c.*428+8_*428+11del (n.*428+8_*428+11del)
c.292+8_292+11del (n.292+8_292+11del)
c.628+8_628+11del (n.628+8_628+11del)
 dbSNP
6g.31933974T>CCA2578572156C2c.529+9T>C (n.529+9T>C)
c.346+9T>C (n.346+9T>C)
c.715+9T>C (n.715+9T>C)
c.210+9T>C (n.210+9T>C)
c.310+9T>C (n.310+9T>C)
n.527T>C
c.319+9T>C (n.319+9T>C)
c.309+9T>C
c.111+191T>C (n.111+191T>C)
c.443-3345T>C (n.443-3345T>C)
c.*428+9T>C (n.*428+9T>C)
c.292+9T>C (n.292+9T>C)
c.628+9T>C (n.628+9T>C)
6g.31933977A>GCA2711461151C2c.529+12A>G (n.529+12A>G)
c.346+12A>G (n.346+12A>G)
c.715+12A>G (n.715+12A>G)
c.210+12A>G (n.210+12A>G)
c.310+12A>G (n.310+12A>G)
c.319+12A>G (n.319+12A>G)
c.309+12A>G
c.111+194A>G (n.111+194A>G)
c.443-3342A>G (n.443-3342A>G)
c.*428+12A>G (n.*428+12A>G)
c.292+12A>G (n.292+12A>G)
c.628+12A>G (n.628+12A>G)
 dbSNP
6g.31933978G>ACA136884165C2c.529+13G>A (n.529+13G>A)
c.346+13G>A (n.346+13G>A)
c.715+13G>A (n.715+13G>A)
c.210+13G>A (n.210+13G>A)
c.310+13G>A (n.310+13G>A)
c.319+13G>A (n.319+13G>A)
c.309+13G>A
c.111+195G>A (n.111+195G>A)
c.443-3341G>A (n.443-3341G>A)
c.*428+13G>A (n.*428+13G>A)
c.292+13G>A (n.292+13G>A)
c.628+13G>A (n.628+13G>A)
 dbSNP
6g.31933978G>CCA823928318C2c.529+13G>C (n.529+13G>C)
c.346+13G>C (n.346+13G>C)
c.715+13G>C (n.715+13G>C)
c.210+13G>C (n.210+13G>C)
c.310+13G>C (n.310+13G>C)
c.319+13G>C (n.319+13G>C)
c.309+13G>C
c.111+195G>C (n.111+195G>C)
c.443-3341G>C (n.443-3341G>C)
c.*428+13G>C (n.*428+13G>C)
c.292+13G>C (n.292+13G>C)
c.628+13G>C (n.628+13G>C)
 dbSNP
6g.31933978G=CA1619369937C2c.529+13G= (n.529+13G=)
c.346+13G= (n.346+13G=)
c.715+13G= (n.715+13G=)
c.210+13G= (n.210+13G=)
c.310+13G= (n.310+13G=)
c.319+13G= (n.319+13G=)
c.309+13G=
c.111+195G= (n.111+195G=)
c.443-3341G= (n.443-3341G=)
c.*428+13G= (n.*428+13G=)
c.292+13G= (n.292+13G=)
c.628+13G= (n.628+13G=)
6g.31933978G>TCA1619369936C2c.529+13G>T (n.529+13G>T)
c.346+13G>T (n.346+13G>T)
c.715+13G>T (n.715+13G>T)
c.210+13G>T (n.210+13G>T)
c.310+13G>T (n.310+13G>T)
c.319+13G>T (n.319+13G>T)
c.309+13G>T
c.111+195G>T (n.111+195G>T)
c.443-3341G>T (n.443-3341G>T)
c.*428+13G>T (n.*428+13G>T)
c.292+13G>T (n.292+13G>T)
c.628+13G>T (n.628+13G>T)
 dbSNP

Number of alleles fetched