Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.115753194T>ACA348323410DPP10c.971T>A (p.Val324Asp)
c.950T>A (p.Val317Asp)
c.983T>A (p.Val328Asp)
c.821T>A (p.Val274Asp)
c.959T>A (p.Val320Asp)
c.719T>A (p.Val240Asp)
n.67+1541A>T
c.1022T>A (p.Val341Asp)
c.881T>A (p.Val294Asp)
c.854T>A (p.Val285Asp)
c.209T>A (p.Val70Asp)
c.848T>A (p.Val283Asp)
2g.115753194T>CCA348323411DPP10c.971T>C (p.Val324Ala)
c.950T>C (p.Val317Ala)
c.983T>C (p.Val328Ala)
c.821T>C (p.Val274Ala)
c.959T>C (p.Val320Ala)
c.719T>C (p.Val240Ala)
n.67+1541A>G
c.1022T>C (p.Val341Ala)
c.881T>C (p.Val294Ala)
c.854T>C (p.Val285Ala)
c.209T>C (p.Val70Ala)
c.848T>C (p.Val283Ala)
2g.115753194T>GCA348323412DPP10c.971T>G (p.Val324Gly)
c.950T>G (p.Val317Gly)
c.983T>G (p.Val328Gly)
c.821T>G (p.Val274Gly)
c.959T>G (p.Val320Gly)
c.719T>G (p.Val240Gly)
n.67+1541A>C
c.1022T>G (p.Val341Gly)
c.881T>G (p.Val294Gly)
c.854T>G (p.Val285Gly)
c.209T>G (p.Val70Gly)
c.848T>G (p.Val283Gly)
2g.115753195T>ACA428354371DPP10c.972T>A (p.Val324=)
c.951T>A (p.Val317=)
c.984T>A (p.Val328=)
c.822T>A (p.Val274=)
c.960T>A (p.Val320=)
c.720T>A (p.Val240=)
n.67+1540A>T
c.1023T>A (p.Val341=)
c.882T>A (p.Val294=)
c.855T>A (p.Val285=)
c.210T>A (p.Val70=)
c.849T>A (p.Val283=)
2g.115753195T>CCA428354375DPP10c.972T>C (p.Val324=)
c.951T>C (p.Val317=)
c.984T>C (p.Val328=)
c.822T>C (p.Val274=)
c.960T>C (p.Val320=)
c.720T>C (p.Val240=)
n.67+1540A>G
c.1023T>C (p.Val341=)
c.882T>C (p.Val294=)
c.855T>C (p.Val285=)
c.210T>C (p.Val70=)
c.849T>C (p.Val283=)
2g.115753195T>GCA428354378DPP10c.972T>G (p.Val324=)
c.951T>G (p.Val317=)
c.984T>G (p.Val328=)
c.822T>G (p.Val274=)
c.960T>G (p.Val320=)
c.720T>G (p.Val240=)
n.67+1540A>C
c.1023T>G (p.Val341=)
c.882T>G (p.Val294=)
c.855T>G (p.Val285=)
c.210T>G (p.Val70=)
c.849T>G (p.Val283=)
2g.115753196A>CCA348323413DPP10c.973A>C (p.Lys325Gln)
c.952A>C (p.Lys318Gln)
c.985A>C (p.Lys329Gln)
c.823A>C (p.Lys275Gln)
c.961A>C (p.Lys321Gln)
c.721A>C (p.Lys241Gln)
n.67+1539T>G
c.1024A>C (p.Lys342Gln)
c.883A>C (p.Lys295Gln)
c.856A>C (p.Lys286Gln)
c.211A>C (p.Lys71Gln)
c.850A>C (p.Lys284Gln)
2g.115753196A>GCA348323414DPP10c.973A>G (p.Lys325Glu)
c.952A>G (p.Lys318Glu)
c.985A>G (p.Lys329Glu)
c.823A>G (p.Lys275Glu)
c.961A>G (p.Lys321Glu)
c.721A>G (p.Lys241Glu)
n.67+1539T>C
c.1024A>G (p.Lys342Glu)
c.883A>G (p.Lys295Glu)
c.856A>G (p.Lys286Glu)
c.211A>G (p.Lys71Glu)
c.850A>G (p.Lys284Glu)
2g.115753196A>TCA348323415DPP10c.973A>T (p.Lys325Ter)
c.952A>T (p.Lys318Ter)
c.985A>T (p.Lys329Ter)
c.823A>T (p.Lys275Ter)
c.961A>T (p.Lys321Ter)
c.721A>T (p.Lys241Ter)
n.67+1539T>A
c.1024A>T (p.Lys342Ter)
c.883A>T (p.Lys295Ter)
c.856A>T (p.Lys286Ter)
c.211A>T (p.Lys71Ter)
c.850A>T (p.Lys284Ter)
2g.115753197A=CA1281312524DPP10c.974A= (p.Lys325=)
c.953A= (p.Lys318=)
c.986A= (p.Lys329=)
c.824A= (p.Lys275=)
c.962A= (p.Lys321=)
c.722A= (p.Lys241=)
n.67+1538T=
c.1025A= (p.Lys342=)
c.884A= (p.Lys295=)
c.857A= (p.Lys286=)
c.212A= (p.Lys71=)
c.851A= (p.Lys284=)
2g.115753197A>CCA348323416DPP10c.974A>C (p.Lys325Thr)
c.953A>C (p.Lys318Thr)
c.986A>C (p.Lys329Thr)
c.824A>C (p.Lys275Thr)
c.962A>C (p.Lys321Thr)
c.722A>C (p.Lys241Thr)
n.67+1538T>G
c.1025A>C (p.Lys342Thr)
c.884A>C (p.Lys295Thr)
c.857A>C (p.Lys286Thr)
c.212A>C (p.Lys71Thr)
c.851A>C (p.Lys284Thr)
2g.115753197A>GCA1843058DPP10c.974A>G (p.Lys325Arg)
c.953A>G (p.Lys318Arg)
c.986A>G (p.Lys329Arg)
c.824A>G (p.Lys275Arg)
c.962A>G (p.Lys321Arg)
c.722A>G (p.Lys241Arg)
n.67+1538T>C
c.1025A>G (p.Lys342Arg)
c.884A>G (p.Lys295Arg)
c.857A>G (p.Lys286Arg)
c.212A>G (p.Lys71Arg)
c.851A>G (p.Lys284Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.115753197A>TCA348323417DPP10c.974A>T (p.Lys325Ile)
c.953A>T (p.Lys318Ile)
c.986A>T (p.Lys329Ile)
c.824A>T (p.Lys275Ile)
c.962A>T (p.Lys321Ile)
c.722A>T (p.Lys241Ile)
n.67+1538T>A
c.1025A>T (p.Lys342Ile)
c.884A>T (p.Lys295Ile)
c.857A>T (p.Lys286Ile)
c.212A>T (p.Lys71Ile)
c.851A>T (p.Lys284Ile)
2g.115753198A=CA1281312525DPP10c.975A= (p.Lys325=)
c.954A= (p.Lys318=)
c.987A= (p.Lys329=)
c.825A= (p.Lys275=)
c.963A= (p.Lys321=)
c.723A= (p.Lys241=)
n.67+1537T=
c.1026A= (p.Lys342=)
c.885A= (p.Lys295=)
c.858A= (p.Lys286=)
c.213A= (p.Lys71=)
c.852A= (p.Lys284=)
2g.115753198A>CCA348323419DPP10c.975A>C (p.Lys325Asn)
c.954A>C (p.Lys318Asn)
c.987A>C (p.Lys329Asn)
c.825A>C (p.Lys275Asn)
c.963A>C (p.Lys321Asn)
c.723A>C (p.Lys241Asn)
n.67+1537T>G
c.1026A>C (p.Lys342Asn)
c.885A>C (p.Lys295Asn)
c.858A>C (p.Lys286Asn)
c.213A>C (p.Lys71Asn)
c.852A>C (p.Lys284Asn)
2g.115753198A>GCA1843059DPP10c.975A>G (p.Lys325=)
c.954A>G (p.Lys318=)
c.987A>G (p.Lys329=)
c.825A>G (p.Lys275=)
c.963A>G (p.Lys321=)
c.723A>G (p.Lys241=)
n.67+1537T>C
c.1026A>G (p.Lys342=)
c.885A>G (p.Lys295=)
c.858A>G (p.Lys286=)
c.213A>G (p.Lys71=)
c.852A>G (p.Lys284=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.115753198A>TCA348323418DPP10c.975A>T (p.Lys325Asn)
c.954A>T (p.Lys318Asn)
c.987A>T (p.Lys329Asn)
c.825A>T (p.Lys275Asn)
c.963A>T (p.Lys321Asn)
c.723A>T (p.Lys241Asn)
n.67+1537T>A
c.1026A>T (p.Lys342Asn)
c.885A>T (p.Lys295Asn)
c.858A>T (p.Lys286Asn)
c.213A>T (p.Lys71Asn)
c.852A>T (p.Lys284Asn)
2g.115753199T>ACA348323422DPP10c.976T>A (p.Trp326Arg)
c.955T>A (p.Trp319Arg)
c.988T>A (p.Trp330Arg)
c.826T>A (p.Trp276Arg)
c.964T>A (p.Trp322Arg)
c.724T>A (p.Trp242Arg)
n.67+1536A>T
c.1027T>A (p.Trp343Arg)
c.886T>A (p.Trp296Arg)
c.859T>A (p.Trp287Arg)
c.214T>A (p.Trp72Arg)
c.853T>A (p.Trp285Arg)
2g.115753199T>CCA348323420DPP10c.976T>C (p.Trp326Arg)
c.955T>C (p.Trp319Arg)
c.988T>C (p.Trp330Arg)
c.826T>C (p.Trp276Arg)
c.964T>C (p.Trp322Arg)
c.724T>C (p.Trp242Arg)
n.67+1536A>G
c.1027T>C (p.Trp343Arg)
c.886T>C (p.Trp296Arg)
c.859T>C (p.Trp287Arg)
c.214T>C (p.Trp72Arg)
c.853T>C (p.Trp285Arg)
2g.115753199T>GCA348323421DPP10c.976T>G (p.Trp326Gly)
c.955T>G (p.Trp319Gly)
c.988T>G (p.Trp330Gly)
c.826T>G (p.Trp276Gly)
c.964T>G (p.Trp322Gly)
c.724T>G (p.Trp242Gly)
n.67+1536A>C
c.1027T>G (p.Trp343Gly)
c.886T>G (p.Trp296Gly)
c.859T>G (p.Trp287Gly)
c.214T>G (p.Trp72Gly)
c.853T>G (p.Trp285Gly)
2g.115753200G>ACA348323423DPP10c.977G>A (p.Trp326Ter)
c.956G>A (p.Trp319Ter)
c.989G>A (p.Trp330Ter)
c.827G>A (p.Trp276Ter)
c.965G>A (p.Trp322Ter)
c.725G>A (p.Trp242Ter)
n.67+1535C>T
c.1028G>A (p.Trp343Ter)
c.887G>A (p.Trp296Ter)
c.860G>A (p.Trp287Ter)
c.215G>A (p.Trp72Ter)
c.854G>A (p.Trp285Ter)
2g.115753200G>CCA348323424DPP10c.977G>C (p.Trp326Ser)
c.956G>C (p.Trp319Ser)
c.989G>C (p.Trp330Ser)
c.827G>C (p.Trp276Ser)
c.965G>C (p.Trp322Ser)
c.725G>C (p.Trp242Ser)
n.67+1535C>G
c.1028G>C (p.Trp343Ser)
c.887G>C (p.Trp296Ser)
c.860G>C (p.Trp287Ser)
c.215G>C (p.Trp72Ser)
c.854G>C (p.Trp285Ser)
2g.115753200G>TCA348323425DPP10c.977G>T (p.Trp326Leu)
c.956G>T (p.Trp319Leu)
c.989G>T (p.Trp330Leu)
c.827G>T (p.Trp276Leu)
c.965G>T (p.Trp322Leu)
c.725G>T (p.Trp242Leu)
n.67+1535C>A
c.1028G>T (p.Trp343Leu)
c.887G>T (p.Trp296Leu)
c.860G>T (p.Trp287Leu)
c.215G>T (p.Trp72Leu)
c.854G>T (p.Trp285Leu)
COSMIC COSMIC
2g.115753201G>ACA348323428DPP10c.978G>A (p.Trp326Ter)
c.957G>A (p.Trp319Ter)
c.990G>A (p.Trp330Ter)
c.828G>A (p.Trp276Ter)
c.966G>A (p.Trp322Ter)
c.726G>A (p.Trp242Ter)
n.67+1534C>T
c.1029G>A (p.Trp343Ter)
c.888G>A (p.Trp296Ter)
c.861G>A (p.Trp287Ter)
c.216G>A (p.Trp72Ter)
c.855G>A (p.Trp285Ter)
2g.115753201G>CCA348323427DPP10c.978G>C (p.Trp326Cys)
c.957G>C (p.Trp319Cys)
c.990G>C (p.Trp330Cys)
c.828G>C (p.Trp276Cys)
c.966G>C (p.Trp322Cys)
c.726G>C (p.Trp242Cys)
n.67+1534C>G
c.1029G>C (p.Trp343Cys)
c.888G>C (p.Trp296Cys)
c.861G>C (p.Trp287Cys)
c.216G>C (p.Trp72Cys)
c.855G>C (p.Trp285Cys)
2g.115753201G>TCA348323426DPP10c.978G>T (p.Trp326Cys)
c.957G>T (p.Trp319Cys)
c.990G>T (p.Trp330Cys)
c.828G>T (p.Trp276Cys)
c.966G>T (p.Trp322Cys)
c.726G>T (p.Trp242Cys)
n.67+1534C>A
c.1029G>T (p.Trp343Cys)
c.888G>T (p.Trp296Cys)
c.861G>T (p.Trp287Cys)
c.216G>T (p.Trp72Cys)
c.855G>T (p.Trp285Cys)
2g.115753202G>ACA348323429DPP10c.979G>A (p.Val327Ile)
c.958G>A (p.Val320Ile)
c.991G>A (p.Val331Ile)
c.829G>A (p.Val277Ile)
c.967G>A (p.Val323Ile)
c.727G>A (p.Val243Ile)
n.67+1533C>T
c.1030G>A (p.Val344Ile)
c.889G>A (p.Val297Ile)
c.862G>A (p.Val288Ile)
c.217G>A (p.Val73Ile)
c.856G>A (p.Val286Ile)
2g.115753202G>CCA348323430DPP10c.979G>C (p.Val327Leu)
c.958G>C (p.Val320Leu)
c.991G>C (p.Val331Leu)
c.829G>C (p.Val277Leu)
c.967G>C (p.Val323Leu)
c.727G>C (p.Val243Leu)
n.67+1533C>G
c.1030G>C (p.Val344Leu)
c.889G>C (p.Val297Leu)
c.862G>C (p.Val288Leu)
c.217G>C (p.Val73Leu)
c.856G>C (p.Val286Leu)
2g.115753202G>TCA348323431DPP10c.979G>T (p.Val327Leu)
c.958G>T (p.Val320Leu)
c.991G>T (p.Val331Leu)
c.829G>T (p.Val277Leu)
c.967G>T (p.Val323Leu)
c.727G>T (p.Val243Leu)
n.67+1533C>A
c.1030G>T (p.Val344Leu)
c.889G>T (p.Val297Leu)
c.862G>T (p.Val288Leu)
c.217G>T (p.Val73Leu)
c.856G>T (p.Val286Leu)
2g.115753203T>ACA348323432DPP10c.980T>A (p.Val327Glu)
c.959T>A (p.Val320Glu)
c.992T>A (p.Val331Glu)
c.830T>A (p.Val277Glu)
c.968T>A (p.Val323Glu)
c.728T>A (p.Val243Glu)
n.67+1532A>T
c.1031T>A (p.Val344Glu)
c.890T>A (p.Val297Glu)
c.863T>A (p.Val288Glu)
c.218T>A (p.Val73Glu)
c.857T>A (p.Val286Glu)
2g.115753203T>CCA348323433DPP10c.980T>C (p.Val327Ala)
c.959T>C (p.Val320Ala)
c.992T>C (p.Val331Ala)
c.830T>C (p.Val277Ala)
c.968T>C (p.Val323Ala)
c.728T>C (p.Val243Ala)
n.67+1532A>G
c.1031T>C (p.Val344Ala)
c.890T>C (p.Val297Ala)
c.863T>C (p.Val288Ala)
c.218T>C (p.Val73Ala)
c.857T>C (p.Val286Ala)
2g.115753203T>GCA348323434DPP10c.980T>G (p.Val327Gly)
c.959T>G (p.Val320Gly)
c.992T>G (p.Val331Gly)
c.830T>G (p.Val277Gly)
c.968T>G (p.Val323Gly)
c.728T>G (p.Val243Gly)
n.67+1532A>C
c.1031T>G (p.Val344Gly)
c.890T>G (p.Val297Gly)
c.863T>G (p.Val288Gly)
c.218T>G (p.Val73Gly)
c.857T>G (p.Val286Gly)
COSMIC COSMIC
2g.115753204A>CCA428354506DPP10c.981A>C (p.Val327=)
c.960A>C (p.Val320=)
c.993A>C (p.Val331=)
c.831A>C (p.Val277=)
c.969A>C (p.Val323=)
c.729A>C (p.Val243=)
n.67+1531T>G
c.1032A>C (p.Val344=)
c.891A>C (p.Val297=)
c.864A>C (p.Val288=)
c.219A>C (p.Val73=)
c.858A>C (p.Val286=)
2g.115753204A>GCA428354510DPP10c.981A>G (p.Val327=)
c.960A>G (p.Val320=)
c.993A>G (p.Val331=)
c.831A>G (p.Val277=)
c.969A>G (p.Val323=)
c.729A>G (p.Val243=)
n.67+1531T>C
c.1032A>G (p.Val344=)
c.891A>G (p.Val297=)
c.864A>G (p.Val288=)
c.219A>G (p.Val73=)
c.858A>G (p.Val286=)
2g.115753204A>TCA428354515DPP10c.981A>T (p.Val327=)
c.960A>T (p.Val320=)
c.993A>T (p.Val331=)
c.831A>T (p.Val277=)
c.969A>T (p.Val323=)
c.729A>T (p.Val243=)
n.67+1531T>A
c.1032A>T (p.Val344=)
c.891A>T (p.Val297=)
c.864A>T (p.Val288=)
c.219A>T (p.Val73=)
c.858A>T (p.Val286=)
2g.115753205A>CCA348323435DPP10c.982A>C (p.Ser328Arg)
c.961A>C (p.Ser321Arg)
c.994A>C (p.Ser332Arg)
c.832A>C (p.Ser278Arg)
c.970A>C (p.Ser324Arg)
c.730A>C (p.Ser244Arg)
n.67+1530T>G
c.1033A>C (p.Ser345Arg)
c.892A>C (p.Ser298Arg)
c.865A>C (p.Ser289Arg)
c.220A>C (p.Ser74Arg)
c.859A>C (p.Ser287Arg)
2g.115753205A>GCA348323437DPP10c.982A>G (p.Ser328Gly)
c.961A>G (p.Ser321Gly)
c.994A>G (p.Ser332Gly)
c.832A>G (p.Ser278Gly)
c.970A>G (p.Ser324Gly)
c.730A>G (p.Ser244Gly)
n.67+1530T>C
c.1033A>G (p.Ser345Gly)
c.892A>G (p.Ser298Gly)
c.865A>G (p.Ser289Gly)
c.220A>G (p.Ser74Gly)
c.859A>G (p.Ser287Gly)
2g.115753205A>TCA348323436DPP10c.982A>T (p.Ser328Cys)
c.961A>T (p.Ser321Cys)
c.994A>T (p.Ser332Cys)
c.832A>T (p.Ser278Cys)
c.970A>T (p.Ser324Cys)
c.730A>T (p.Ser244Cys)
n.67+1530T>A
c.1033A>T (p.Ser345Cys)
c.892A>T (p.Ser298Cys)
c.865A>T (p.Ser289Cys)
c.220A>T (p.Ser74Cys)
c.859A>T (p.Ser287Cys)
2g.115753206G>ACA348323438DPP10c.983G>A (p.Ser328Asn)
c.962G>A (p.Ser321Asn)
c.995G>A (p.Ser332Asn)
c.833G>A (p.Ser278Asn)
c.971G>A (p.Ser324Asn)
c.731G>A (p.Ser244Asn)
n.67+1529C>T
c.1034G>A (p.Ser345Asn)
c.893G>A (p.Ser298Asn)
c.866G>A (p.Ser289Asn)
c.221G>A (p.Ser74Asn)
c.860G>A (p.Ser287Asn)
2g.115753206G>CCA54497560DPP10c.983G>C (p.Ser328Thr)
c.962G>C (p.Ser321Thr)
c.995G>C (p.Ser332Thr)
c.833G>C (p.Ser278Thr)
c.971G>C (p.Ser324Thr)
c.731G>C (p.Ser244Thr)
n.67+1529C>G
c.1034G>C (p.Ser345Thr)
c.893G>C (p.Ser298Thr)
c.866G>C (p.Ser289Thr)
c.221G>C (p.Ser74Thr)
c.860G>C (p.Ser287Thr)
dbSNP
2g.115753206G=CA1281312526DPP10c.983G= (p.Ser328=)
c.962G= (p.Ser321=)
c.995G= (p.Ser332=)
c.833G= (p.Ser278=)
c.971G= (p.Ser324=)
c.731G= (p.Ser244=)
n.67+1529C=
c.1034G= (p.Ser345=)
c.893G= (p.Ser298=)
c.866G= (p.Ser289=)
c.221G= (p.Ser74=)
c.860G= (p.Ser287=)
2g.115753206G>TCA348323439DPP10c.983G>T (p.Ser328Ile)
c.962G>T (p.Ser321Ile)
c.995G>T (p.Ser332Ile)
c.833G>T (p.Ser278Ile)
c.971G>T (p.Ser324Ile)
c.731G>T (p.Ser244Ile)
n.67+1529C>A
c.1034G>T (p.Ser345Ile)
c.893G>T (p.Ser298Ile)
c.866G>T (p.Ser289Ile)
c.221G>T (p.Ser74Ile)
c.860G>T (p.Ser287Ile)
2g.115753207C>ACA348323440DPP10c.984C>A (p.Ser328Arg)
c.963C>A (p.Ser321Arg)
c.996C>A (p.Ser332Arg)
c.834C>A (p.Ser278Arg)
c.972C>A (p.Ser324Arg)
c.732C>A (p.Ser244Arg)
n.67+1528G>T
c.1035C>A (p.Ser345Arg)
c.894C>A (p.Ser298Arg)
c.867C>A (p.Ser289Arg)
c.222C>A (p.Ser74Arg)
c.861C>A (p.Ser287Arg)
2g.115753207C>GCA348323441DPP10c.984C>G (p.Ser328Arg)
c.963C>G (p.Ser321Arg)
c.996C>G (p.Ser332Arg)
c.834C>G (p.Ser278Arg)
c.972C>G (p.Ser324Arg)
c.732C>G (p.Ser244Arg)
n.67+1528G>C
c.1035C>G (p.Ser345Arg)
c.894C>G (p.Ser298Arg)
c.867C>G (p.Ser289Arg)
c.222C>G (p.Ser74Arg)
c.861C>G (p.Ser287Arg)
2g.115753207C>TCA428354572DPP10c.984C>T (p.Ser328=)
c.963C>T (p.Ser321=)
c.996C>T (p.Ser332=)
c.834C>T (p.Ser278=)
c.972C>T (p.Ser324=)
c.732C>T (p.Ser244=)
n.67+1528G>A
c.1035C>T (p.Ser345=)
c.894C>T (p.Ser298=)
c.867C>T (p.Ser289=)
c.222C>T (p.Ser74=)
c.861C>T (p.Ser287=)
2g.115753208A>CCA348323442DPP10c.985A>C (p.Asn329His)
c.964A>C (p.Asn322His)
c.997A>C (p.Asn333His)
c.835A>C (p.Asn279His)
c.973A>C (p.Asn325His)
c.733A>C (p.Asn245His)
n.67+1527T>G
c.1036A>C (p.Asn346His)
c.895A>C (p.Asn299His)
c.868A>C (p.Asn290His)
c.223A>C (p.Asn75His)
c.862A>C (p.Asn288His)
gnomAD v4
2g.115753208A>GCA348323443DPP10c.985A>G (p.Asn329Asp)
c.964A>G (p.Asn322Asp)
c.997A>G (p.Asn333Asp)
c.835A>G (p.Asn279Asp)
c.973A>G (p.Asn325Asp)
c.733A>G (p.Asn245Asp)
n.67+1527T>C
c.1036A>G (p.Asn346Asp)
c.895A>G (p.Asn299Asp)
c.868A>G (p.Asn290Asp)
c.223A>G (p.Asn75Asp)
c.862A>G (p.Asn288Asp)
2g.115753208A>TCA348323444DPP10c.985A>T (p.Asn329Tyr)
c.964A>T (p.Asn322Tyr)
c.997A>T (p.Asn333Tyr)
c.835A>T (p.Asn279Tyr)
c.973A>T (p.Asn325Tyr)
c.733A>T (p.Asn245Tyr)
n.67+1527T>A
c.1036A>T (p.Asn346Tyr)
c.895A>T (p.Asn299Tyr)
c.868A>T (p.Asn290Tyr)
c.223A>T (p.Asn75Tyr)
c.862A>T (p.Asn288Tyr)
2g.115753209A>CCA348323445DPP10c.986A>C (p.Asn329Thr)
c.965A>C (p.Asn322Thr)
c.998A>C (p.Asn333Thr)
c.836A>C (p.Asn279Thr)
c.974A>C (p.Asn325Thr)
c.734A>C (p.Asn245Thr)
n.67+1526T>G
c.1037A>C (p.Asn346Thr)
c.896A>C (p.Asn299Thr)
c.869A>C (p.Asn290Thr)
c.224A>C (p.Asn75Thr)
c.863A>C (p.Asn288Thr)
gnomAD v4
2g.115753209A>GCA348323446DPP10c.986A>G (p.Asn329Ser)
c.965A>G (p.Asn322Ser)
c.998A>G (p.Asn333Ser)
c.836A>G (p.Asn279Ser)
c.974A>G (p.Asn325Ser)
c.734A>G (p.Asn245Ser)
n.67+1526T>C
c.1037A>G (p.Asn346Ser)
c.896A>G (p.Asn299Ser)
c.869A>G (p.Asn290Ser)
c.224A>G (p.Asn75Ser)
c.863A>G (p.Asn288Ser)

Number of alleles fetched