Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.140113537_140114444delinsGAGGTGGGCA2739275106PURAc.-141-504_263delinsGAGGTGGG
ClinVar
5g.140114162_140114323delCA2825001390PURAc.-20_142del
ClinVar
5g.140114247dupCA915942631PURAc.66dup (p.His23AlafsTer?)
n.489dup
n.531dup
ClinVar dbSNP
5g.140114247delCA2499217689PURAc.66del (p.His23ThrfsTer?)
n.489del
n.531del
ClinVar dbSNP gnomAD v4
5g.140114245G>ACA361489150PURAc.64G>A (p.Gly22Arg)
n.487G>A
n.529G>A
dbSNP gnomAD v3 gnomAD v4
5g.140114245G>CCA361489152PURAc.64G>C (p.Gly22Arg)
n.487G>C
n.529G>C
5g.140114245G=CA1586593027PURAc.64G= (p.Gly22=)
n.487G=
n.529G=
5g.140114245G>TCA361489153PURAc.64G>T (p.Gly22Trp)
n.487G>T
n.529G>T
5g.140114246G>ACA361489156PURAc.65G>A (p.Gly22Glu)
n.488G>A
n.530G>A
ClinVar dbSNP gnomAD v4
5g.140114246G>CCA361489158PURAc.65G>C (p.Gly22Ala)
n.488G>C
n.530G>C
5g.140114246G>TCA361489159PURAc.65G>T (p.Gly22Val)
n.488G>T
n.530G>T
gnomAD v4
5g.140114247G>ACA446758360PURAc.66G>A (p.Gly22=)
n.489G>A
n.531G>A
gnomAD v4
5g.140114247G>CCA446758363PURAc.66G>C (p.Gly22=)
n.489G>C
n.531G>C
ClinVar
5g.140114247G>TCA446758365PURAc.66G>T (p.Gly22=)
n.489G>T
n.531G>T
5g.140114248C>ACA361489166PURAc.67C>A (p.His23Asn)
n.490C>A
n.532C>A
gnomAD v4
5g.140114248C=CA1586593035PURAc.67C= (p.His23=)
n.490C=
n.532C=
5g.140114248C>GCA361489168PURAc.67C>G (p.His23Asp)
n.490C>G
n.532C>G
5g.140114248C>TCA361489163PURAc.67C>T (p.His23Tyr)
n.490C>T
n.532C>T
dbSNP gnomAD v2 gnomAD v4
5g.140114249_140114250delCA2568062571PURAc.68_69del (p.His23ProfsTer?)
n.491_492del
n.533_534del
5g.140114249A=CA1586593036PURAc.68A= (p.His23=)
n.491A=
n.533A=
5g.140114249A>CCA361489172PURAc.68A>C (p.His23Pro)
n.491A>C
n.533A>C
5g.140114249A>GCA361489174PURAc.68A>G (p.His23Arg)
n.491A>G
n.533A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114249A>TCA361489176PURAc.68A>T (p.His23Leu)
n.491A>T
n.533A>T
gnomAD v4
5g.140114249_140114254delCA2675565397PURAc.68_73del (p.His23_Gly25delinsArg)
n.491_496del
n.533_538del
gnomAD v4
5g.140114249_140114266delCA2675565398PURAc.68_85del (p.His23_Gly29delinsArg)
n.533_550del
gnomAD v4
5g.140114250C>ACA361489179PURAc.69C>A (p.His23Gln)
n.492C>A
n.534C>A
5g.140114250C>GCA361489180PURAc.69C>G (p.His23Gln)
n.492C>G
n.534C>G
5g.140114250C>TCA446758378PURAc.69C>T (p.His23=)
n.492C>T
n.534C>T
gnomAD v4
5g.140114253delCA2578424814PURAc.72del (p.Gly25AlafsTer?)
n.495del
n.537del
5g.140114251C>ACA361489184PURAc.70C>A (p.Pro24Thr)
n.493C>A
n.535C>A
5g.140114251C=CA1586593042PURAc.70C= (p.Pro24=)
n.493C=
n.535C=
5g.140114251C>GCA16618120PURAc.70C>G (p.Pro24Ala)
n.493C>G
n.535C>G
ClinVar dbSNP
5g.140114251C>TCA361489186PURAc.70C>T (p.Pro24Ser)
n.493C>T
n.535C>T
ClinVar dbSNP gnomAD v4
5g.140114252C>ACA361489188PURAc.71C>A (p.Pro24His)
n.494C>A
n.536C>A
gnomAD v4
5g.140114252C>GCA361489190PURAc.71C>G (p.Pro24Arg)
n.494C>G
n.536C>G
5g.140114252C>TCA361489193PURAc.71C>T (p.Pro24Leu)
n.494C>T
n.536C>T
gnomAD v4
5g.140114253C>ACA446758394PURAc.72C>A (p.Pro24=)
n.495C>A
n.537C>A
gnomAD v4
5g.140114253C=CA1586593049PURAc.72C= (p.Pro24=)
n.495C=
n.537C=
5g.140114253C>GCA446758392PURAc.72C>G (p.Pro24=)
n.495C>G
n.537C>G
dbSNP gnomAD v4 COSMIC
5g.140114253C>TCA446758389PURAc.72C>T (p.Pro24=)
n.495C>T
n.537C>T
ClinVar dbSNP gnomAD v4
5g.140114254G>ACA361489200PURAc.73G>A (p.Gly25Ser)
n.496G>A
n.538G>A
ClinVar dbSNP gnomAD v4
5g.140114254G>CCA361489196PURAc.73G>C (p.Gly25Arg)
n.496G>C
n.538G>C
gnomAD v4
5g.140114254G=CA1586593064PURAc.73G= (p.Gly25=)
n.496G=
n.538G=
5g.140114254G>TCA361489198PURAc.73G>T (p.Gly25Cys)
n.496G>T
n.538G>T
gnomAD v4
5g.140114255delCA1139532824PURAc.74del (p.Gly25AlafsTer?)
n.497del
n.539del
ClinVar dbSNP
5g.140114259_140114264dupCA3437411PURAc.78_83dup (p.Ser28_Gly29insGlySer)
n.543_548dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140114255G>ACA361489203PURAc.74G>A (p.Gly25Asp)
n.497G>A
n.539G>A
5g.140114255G>CCA361489205PURAc.74G>C (p.Gly25Ala)
n.497G>C
n.539G>C
gnomAD v4
5g.140114255G=CA1586593068PURAc.74G= (p.Gly25=)
n.497G=
n.539G=
5g.140114255G>TCA361489208PURAc.74G>T (p.Gly25Val)
n.497G>T
n.539G>T
dbSNP gnomAD v3 gnomAD v4
5g.140114255_140114269delCA2563471851PURAc.74_88del (p.Gly25_Ser30delinsAla)
n.539_553del
5g.140114256C>ACA446758408PURAc.75C>A (p.Gly25=)
n.498C>A
n.540C>A
gnomAD v4
5g.140114256C>GCA446758410PURAc.75C>G (p.Gly25=)
n.498C>G
n.540C>G
5g.140114256C>TCA446758411PURAc.75C>T (p.Gly25=)
n.498C>T
n.540C>T
5g.140114257T>ACA361489211PURAc.76T>A (p.Ser26Thr)
n.499T>A
n.541T>A
5g.140114257T>CCA361489213PURAc.76T>C (p.Ser26Pro)
n.499T>C
n.541T>C
dbSNP gnomAD v3 gnomAD v4
5g.140114257T>GCA361489214PURAc.76T>G (p.Ser26Ala)
n.499T>G
n.541T>G
5g.140114257T=CA1586593073PURAc.76T= (p.Ser26=)
n.499T=
n.541T=
5g.140114258C>ACA361489218PURAc.77C>A (p.Ser26Ter)
n.500C>A
n.542C>A
ClinVar dbSNP gnomAD v4
5g.140114258C=CA1586593078PURAc.77C= (p.Ser26=)
n.500C=
n.542C=
5g.140114258C>GCA361489220PURAc.77C>G (p.Ser26Trp)
n.500C>G
n.542C>G
gnomAD v4
5g.140114258C>TCA361489222PURAc.77C>T (p.Ser26Leu)
n.500C>T
n.542C>T
ClinVar dbSNP gnomAD v4
5g.140114259G>ACA446758425PURAc.78G>A (p.Ser26=)
n.501G>A
n.543G>A
ClinVar dbSNP gnomAD v4
5g.140114259G>CCA446758427PURAc.78G>C (p.Ser26=)
n.501G>C
n.543G>C
dbSNP gnomAD v3 gnomAD v4
5g.140114259G=CA1586593082PURAc.78G= (p.Ser26=)
n.501G=
n.543G=
5g.140114259G>TCA446758429PURAc.78G>T (p.Ser26=)
n.501G>T
n.543G>T
5g.140114260G>ACA361489224PURAc.79G>A (p.Gly27Ser)
n.502G>A
n.544G>A
5g.140114260G>CCA361489225PURAc.79G>C (p.Gly27Arg)
n.502G>C
n.544G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114260G=CA1586593088PURAc.79G= (p.Gly27=)
n.502G=
n.544G=
5g.140114260G>TCA361489227PURAc.79G>T (p.Gly27Cys)
n.502G>T
n.544G>T
5g.140114265_140114270delCA2542583831PURAc.84_89del (p.Gly29_Ser30del)
n.549_554del
gnomAD v4
5g.140114261G>ACA361489232PURAc.80G>A (p.Gly27Asp)
n.545G>A
gnomAD v4
5g.140114261G>CCA361489234PURAc.80G>C (p.Gly27Ala)
n.545G>C
gnomAD v4
5g.140114261G>TCA361489230PURAc.80G>T (p.Gly27Val)
n.545G>T
5g.140114262C>ACA446758438PURAc.81C>A (p.Gly27=)
n.546C>A
gnomAD v4
5g.140114262C>GCA446758441PURAc.81C>G (p.Gly27=)
n.546C>G
gnomAD v4
5g.140114262C>TCA446758442PURAc.81C>T (p.Gly27=)
n.546C>T
5g.140114263T>ACA361489242PURAc.82T>A (p.Ser28Thr)
n.547T>A
5g.140114263T>CCA361489238PURAc.82T>C (p.Ser28Pro)
n.547T>C
ClinVar dbSNP gnomAD v4
5g.140114263T>GCA361489240PURAc.82T>G (p.Ser28Ala)
n.547T>G
5g.140114263T=CA1586593096PURAc.82T= (p.Ser28=)
n.547T=
5g.140114264C>ACA361489246PURAc.83C>A (p.Ser28Ter)
n.548C>A
gnomAD v4
5g.140114264C>GCA361489248PURAc.83C>G (p.Ser28Ter)
n.548C>G
ClinVar
5g.140114264C>TCA361489249PURAc.83C>T (p.Ser28Leu)
n.548C>T
gnomAD v4
5g.140114265A=CA1586593102PURAc.84A= (p.Ser28=)
n.549A=
5g.140114265A>CCA446758452PURAc.84A>C (p.Ser28=)
n.549A>C
5g.140114265A>GCA128789391PURAc.84A>G (p.Ser28=)
n.549A>G
dbSNP gnomAD v4
5g.140114265A>TCA446758454PURAc.84A>T (p.Ser28=)
n.549A>T
5g.140114265_140114271delinsAGGCTCCCA1586593107PURAc.84_90delinsAGGCTCC (p.Ser28=)
n.549_555delinsAGGCTCC
5g.140114266G>ACA361489250PURAc.85G>A (p.Gly29Ser)
n.550G>A
5g.140114266G>CCA361489251PURAc.85G>C (p.Gly29Arg)
n.550G>C
5g.140114266G>TCA361489252PURAc.85G>T (p.Gly29Cys)
n.550G>T
gnomAD v4
5g.140114269_140114274delCA1586593114PURAc.88_93del (p.Ser30_Gly31del)
n.553_558del
ClinVar dbSNP
5g.140114267G>ACA361489253PURAc.86G>A (p.Gly29Asp)
n.551G>A
gnomAD v4
5g.140114267G>CCA361489254PURAc.86G>C (p.Gly29Ala)
n.551G>C
5g.140114267G>TCA361489255PURAc.86G>T (p.Gly29Val)
n.551G>T
5g.140114268C>ACA446758465PURAc.87C>A (p.Gly29=)
n.552C>A
gnomAD v4
5g.140114268C>GCA446758467PURAc.87C>G (p.Gly29=)
n.552C>G
5g.140114268C>TCA446758469PURAc.87C>T (p.Gly29=)
n.552C>T
5g.140114269T>ACA361489258PURAc.88T>A (p.Ser30Thr)
n.553T>A
5g.140114269T>CCA361489257PURAc.88T>C (p.Ser30Pro)
n.553T>C
5g.140114269T>GCA361489256PURAc.88T>G (p.Ser30Ala)
n.553T>G
5g.140114270C>ACA361489259PURAc.89C>A (p.Ser30Tyr)
n.554C>A
gnomAD v4
5g.140114270C>GCA361489260PURAc.89C>G (p.Ser30Cys)
n.554C>G
5g.140114270C>TCA361489261PURAc.89C>T (p.Ser30Phe)
n.554C>T
5g.140114270_140114288delinsCCGGCGGGGGCGGTGGTGGCA1586593117PURAc.89_107delinsCCGGCGGGGGCGGTGGTGG (p.Ser30=)
n.554_572delinsCCGGCGGGGGCGGTGGTGG
5g.140114271C>ACA446758479PURAc.90C>A (p.Ser30=)
n.555C>A
5g.140114271C=CA1586593136PURAc.90C= (p.Ser30=)
n.555C=
5g.140114271C>GCA446758480PURAc.90C>G (p.Ser30=)
n.555C>G
5g.140114271C>TCA446758483PURAc.90C>T (p.Ser30=)
n.555C>T
dbSNP gnomAD v3 gnomAD v4
5g.140114274_140114282delCA2578424815PURAc.93_101del (p.Gly32_Gly34del)
n.558_566del
gnomAD v4
5g.140114283_140114300dupCA916082784PURAc.102_119dup (p.Gly40_Gly41insGlyGlyGlyGlyGlyGly)
n.567_584dup
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114283_140114300delCA563504658PURAc.102_119del (p.Gly35_Gly40del)
n.567_584del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114277_140114303dupCA2675565399PURAc.96_122dup (p.Gly41_Gly42insGlyGlyGlyGlyGlyGlyGlyGlyGly)
n.561_587dup
gnomAD v4
5g.140114277_140114303delCA2675565400PURAc.96_122del (p.Gly33_Gly41del)
n.561_587del
gnomAD v4
5g.140114275_140114307delCA2675565401PURAc.94_126del (p.Gly32_Gly42del)
n.559_591del
gnomAD v4
5g.140114272G>ACA361489262PURAc.91G>A (p.Gly31Ser)
n.556G>A
ClinVar
5g.140114272G>CCA361489263PURAc.91G>C (p.Gly31Arg)
n.556G>C
5g.140114272G>TCA361489264PURAc.91G>T (p.Gly31Cys)
n.556G>T
gnomAD v4
5g.140114277_140114300dupCA2675565402PURAc.96_119dup (p.Gly40_Gly41insGlyGlyGlyGlyGlyGlyGlyGly)
n.561_584dup
gnomAD v4
5g.140114273_140114346delCA2513137128PURAc.92_165del (p.Gly31AlafsTer?)
5g.140114273G>ACA361489265PURAc.92G>A (p.Gly31Asp)
n.557G>A
gnomAD v4
5g.140114273G>CCA361489266PURAc.92G>C (p.Gly31Ala)
n.557G>C
5g.140114273G>TCA361489267PURAc.92G>T (p.Gly31Val)
n.557G>T
5g.140114274delCA2499217690PURAc.93del (p.Gly33AlafsTer?)
n.558del
dbSNP
5g.140114274C>ACA446758496PURAc.93C>A (p.Gly31=)
n.558C>A
gnomAD v4
5g.140114274C>GCA446758500PURAc.93C>G (p.Gly31=)
n.558C>G
gnomAD v4
5g.140114274C>TCA446758498PURAc.93C>T (p.Gly31=)
n.558C>T
gnomAD v4
5g.140114275G>ACA361489268PURAc.94G>A (p.Gly32Arg)
n.559G>A
gnomAD v4
5g.140114275G>CCA361489269PURAc.94G>C (p.Gly32Arg)
n.559G>C
5g.140114275G=CA1586593141PURAc.94G= (p.Gly32=)
n.559G=
5g.140114275G>TCA361489270PURAc.94G>T (p.Gly32Trp)
n.559G>T
dbSNP gnomAD v4
5g.140114279dupCA2580072958PURAc.98dup (p.Gly34ArgfsTer?)
n.563dup
ClinVar
5g.140114279delCA915942632PURAc.98del (p.Gly33AlafsTer?)
n.563del
ClinVar gnomAD v4
5g.140114277_140114285dupCA2675565403PURAc.96_104dup (p.Gly35_Gly36insGlyGlyGly)
n.561_569dup
gnomAD v4
5g.140114277_140114285delCA2675565404PURAc.96_104del (p.Gly33_Gly35del)
n.561_569del
gnomAD v4
5g.140114276G>ACA361489273PURAc.95G>A (p.Gly32Glu)
n.560G>A
gnomAD v4
5g.140114276G>CCA361489272PURAc.95G>C (p.Gly32Ala)
n.560G>C
dbSNP
5g.140114276G=CA1586593151PURAc.95G= (p.Gly32=)
n.560G=
5g.140114276G>TCA361489271PURAc.95G>T (p.Gly32Val)
n.560G>T
5g.140114277G>ACA446758513PURAc.96G>A (p.Gly32=)
n.561G>A
5g.140114277G>CCA446758515PURAc.96G>C (p.Gly32=)
n.561G>C
gnomAD v4
5g.140114277G=CA1586593157PURAc.96G= (p.Gly32=)
n.561G=
5g.140114277G>TCA446758517PURAc.96G>T (p.Gly32=)
n.561G>T
gnomAD v4
5g.140114277_140114286delinsGGGCGGTGGTCA1586593159PURAc.96_105delinsGGGCGGTGGT (p.Gly32=)
n.561_570delinsGGGCGGTGGT
5g.140114277_140114289delinsGGGCGGTGGTGGCCA1586593155PURAc.96_108delinsGGGCGGTGGTGGC (p.Gly32=)
n.561_573delinsGGGCGGTGGTGGC
5g.140114278G>ACA361489274PURAc.97G>A (p.Gly33Ser)
n.562G>A
5g.140114278G>CCA361489275PURAc.97G>C (p.Gly33Arg)
n.562G>C
5g.140114278G>TCA361489276PURAc.97G>T (p.Gly33Cys)
n.562G>T
5g.140114280_140114282dupCA804698793PURAc.99_101dup (p.Gly34_Gly35insGly)
n.564_566dup
dbSNP gnomAD v4
5g.140114283_140114291delCA563504659PURAc.102_110del (p.Gly35_Gly37del)
n.567_575del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114283_140114294delCA128789392PURAc.102_113del (p.Gly35_Gly38del)
n.567_578del
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114283_140114306dupCA2675565406PURAc.102_125dup (p.Gly42_Ser43insGlyGlyGlyGlyGlyGlyGlyGly)
n.567_590dup
gnomAD v4
5g.140114283_140114306delCA2578424816PURAc.102_125del (p.Gly35_Gly42del)
n.567_590del
ClinVar gnomAD v4
5g.140114281_140114307delCA2578424817PURAc.100_126del (p.Gly34_Gly42del)
n.565_591del
5g.140114283_140114318dupCA1082183760PURAc.102_137dup (p.Gly46_Gly47insGlyGlyGlyGlyGlyGlyGlyGlySerGlyGlyGly)
ClinVar gnomAD v3 gnomAD v4
5g.140114283_140114324delCA2675565405PURAc.102_143del (p.Gly35_Gly48del)
gnomAD v4
5g.140114279G>ACA361489277PURAc.98G>A (p.Gly33Asp)
n.563G>A
5g.140114279G>CCA361489278PURAc.98G>C (p.Gly33Ala)
n.563G>C
5g.140114279G>TCA361489279PURAc.98G>T (p.Gly33Val)
n.563G>T
5g.140114280C>ACA446758529PURAc.99C>A (p.Gly33=)
n.564C>A
5g.140114280C>GCA446758531PURAc.99C>G (p.Gly33=)
n.564C>G
5g.140114280C>TCA446758533PURAc.99C>T (p.Gly33=)
n.564C>T
ClinVar dbSNP gnomAD v4
5g.140114280_140114281delinsCGCA1586593170PURAc.99_100delinsCG (p.Gly33=)
n.564_565delinsCG
5g.140114281G>ACA361489280PURAc.100G>A (p.Gly34Ser)
n.565G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114281G>CCA361489281PURAc.100G>C (p.Gly34Arg)
n.565G>C
5g.140114281G=CA1586593180PURAc.100G= (p.Gly34=)
n.565G=
5g.140114281G>TCA361489282PURAc.100G>T (p.Gly34Cys)
n.565G>T
5g.140114282delCA1139659094PURAc.101del (p.Gly34ValfsTer?)
n.566del
ClinVar dbSNP
5g.140114286_140114288dupCA2580613679PURAc.105_107dup (p.Gly36_Gly37insGly)
n.570_572dup
ClinVar gnomAD v4
5g.140114286_140114288delCA2578424818PURAc.105_107del (p.Gly36del)
n.570_572del
5g.140114281_140114308delinsGGTGGTGGCGGCGGGGGCGGCGGCGGCACA1586593183PURAc.100_127delinsGGTGGTGGCGGCGGGGGCGGCGGCGGCA (p.Gly34=)
n.565_592delinsGGTGGTGGCGGCGGGGGCGGCGGCGGCA
5g.140114282G>ACA361489283PURAc.101G>A (p.Gly34Asp)
n.566G>A
gnomAD v4
5g.140114282G>CCA361489284PURAc.101G>C (p.Gly34Ala)
n.566G>C
5g.140114282G>TCA361489285PURAc.101G>T (p.Gly34Val)
n.566G>T
gnomAD v4
5g.140114286_140114312delCA563504660PURAc.105_131del (p.Gly36_Gly44del)
n.570_596del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114283T>ACA446758545PURAc.102T>A (p.Gly34=)
n.567T>A
5g.140114283T>CCA446758547PURAc.102T>C (p.Gly34=)
n.567T>C
ClinVar dbSNP gnomAD v4
5g.140114283T>GCA446758549PURAc.102T>G (p.Gly34=)
n.567T>G
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114283T=CA1586593190PURAc.102T= (p.Gly34=)
n.567T=
5g.140114284G>ACA361489287PURAc.103G>A (p.Gly35Ser)
n.568G>A
gnomAD v4
5g.140114284G>CCA361489288PURAc.103G>C (p.Gly35Arg)
n.568G>C
5g.140114284G>TCA361489286PURAc.103G>T (p.Gly35Cys)
n.568G>T
5g.140114286_140114294dupCA2675565407PURAc.105_113dup (p.Gly38_Gly39insGlyGlyGly)
n.570_578dup
gnomAD v4
5g.140114286_140114303dupCA2675565408PURAc.105_122dup (p.Gly41_Gly42insGlyGlyGlyGlyGlyGly)
n.570_587dup
ClinVar gnomAD v4
5g.140114284_140114307dupCA2675565409PURAc.103_126dup (p.Gly42_Ser43insGlyGlyGlyGlyGlyGlyGlyGly)
n.568_591dup
gnomAD v4
5g.140114284_140114308delinsGGTGGCGGCGGGGGCGGCGGCGGCACA1586593193PURAc.103_127delinsGGTGGCGGCGGGGGCGGCGGCGGCA (p.Gly35=)
n.568_592delinsGGTGGCGGCGGGGGCGGCGGCGGCA
5g.140114285G>ACA361489290PURAc.104G>A (p.Gly35Asp)
n.569G>A
gnomAD v4
5g.140114285G>CCA361489292PURAc.104G>C (p.Gly35Ala)
n.569G>C
5g.140114285G>TCA361489294PURAc.104G>T (p.Gly35Val)
n.569G>T
5g.140114295_140114318dupCA2675565410PURAc.114_137dup (p.Gly46_Gly47insGlyGlyGlyGlySerGlyGlyGly)
gnomAD v4
5g.140114295_140114318delCA3437412PURAc.114_137del (p.Gly39_Gly46del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140114286T>ACA446758564PURAc.105T>A (p.Gly35=)
n.570T>A
5g.140114286T>CCA446758563PURAc.105T>C (p.Gly35=)
n.570T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114286T>GCA446758567PURAc.105T>G (p.Gly35=)
n.570T>G
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114286T=CA1586593199PURAc.105T= (p.Gly35=)
n.570T=
5g.140114286_140114295delinsTGGCGGCGGGCA1586593210PURAc.105_114delinsTGGCGGCGGG (p.Gly35=)
n.570_579delinsTGGCGGCGGG
5g.140114286_140114298delinsTGGCGGCGGGGGCCA1586593203PURAc.105_117delinsTGGCGGCGGGGGC (p.Gly35=)
n.570_582delinsTGGCGGCGGGGGC
5g.140114286_140114313delinsTGGCGGCGGGGGCGGCGGCGGCAGTGGCCA1586593208PURAc.105_132delinsTGGCGGCGGGGGCGGCGGCGGCAGTGGC (p.Gly35=)
n.570_597delinsTGGCGGCGGGGGCGGCGGCGGCAGTGGC
5g.140114286_140114319delinsTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCCA1586593201PURAc.105_138delinsTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGC (p.Gly35=)
5g.140114287G>ACA361489305PURAc.106G>A (p.Gly36Ser)
n.571G>A
gnomAD v4
5g.140114287G>CCA361489303PURAc.106G>C (p.Gly36Arg)
n.571G>C
gnomAD v4
5g.140114287G>TCA361489299PURAc.106G>T (p.Gly36Cys)
n.571G>T
gnomAD v4
5g.140114292_140114294dupCA804698825PURAc.111_113dup (p.Gly38_Gly39insGly)
n.576_578dup
dbSNP gnomAD v3 gnomAD v4
5g.140114289_140114294delCA2578424820PURAc.108_113del (p.Gly37_Gly38del)
n.573_578del
ClinVar gnomAD v4
5g.140114295_140114303dupCA1082183776PURAc.114_122dup (p.Gly41_Gly42insGlyGlyGly)
n.579_587dup
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114295_140114303delCA3437413PURAc.114_122del (p.Gly39_Gly41del)
n.579_587del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140114295_140114306dupCA917594027PURAc.114_125dup (p.Gly42_Ser43insGlyGlyGlyGly)
n.579_590dup
dbSNP gnomAD v4
5g.140114295_140114306delCA804698824PURAc.114_125del (p.Gly39_Gly42del)
n.579_590del
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114293_140114307dupCA563504661PURAc.112_126dup (p.Gly42_Ser43insGlyGlyGlyGlyGly)
n.577_591dup
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114290_140114307dupCA2675565412PURAc.109_126dup (p.Gly42_Ser43insGlyGlyGlyGlyGlyGly)
n.574_591dup
ClinVar gnomAD v4
5g.140114293_140114307delCA2578424819PURAc.112_126del (p.Gly38_Gly42del)
n.577_591del
gnomAD v4
5g.140114295_140114321dupCA2740094091PURAc.114_140dup (p.Gly47_Gly48insGlyGlyGlyGlySerGlyGlyGlyGly)
ClinVar
5g.140114295_140114321delCA804698823PURAc.114_140del (p.Gly39_Gly47del)
ClinVar dbSNP gnomAD v4
5g.140114295_140114324delCA2675565411PURAc.114_143del (p.Gly39_Gly48del)
gnomAD v4
5g.140114297_140114329delCA1082183772PURAc.116_148del (p.Gly39_Gly49del)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114288G>ACA361489307PURAc.107G>A (p.Gly36Asp)
n.572G>A
gnomAD v4
5g.140114288G>CCA361489309PURAc.107G>C (p.Gly36Ala)
n.572G>C
5g.140114288G>TCA361489312PURAc.107G>T (p.Gly36Val)
n.572G>T
5g.140114289C>ACA446758581PURAc.108C>A (p.Gly36=)
n.573C>A
gnomAD v4
5g.140114289C=CA1586593257PURAc.108C= (p.Gly36=)
n.573C=
5g.140114289C>GCA446758583PURAc.108C>G (p.Gly36=)
n.573C>G
ClinVar dbSNP
5g.140114289C>TCA446758586PURAc.108C>T (p.Gly36=)
n.573C>T
dbSNP gnomAD v3 gnomAD v4
5g.140114289_140114290insAGTCA2578424821PURAc.108_109insAGT (p.Gly36_Gly37insSer)
n.573_574insAGT
5g.140114290G>ACA361489314PURAc.109G>A (p.Gly37Ser)
n.574G>A
gnomAD v4
5g.140114290G>CCA361489317PURAc.109G>C (p.Gly37Arg)
n.574G>C
5g.140114290G=CA1586593259PURAc.109G= (p.Gly37=)
n.574G=
5g.140114290G>TCA361489320PURAc.109G>T (p.Gly37Cys)
n.574G>T
ClinVar dbSNP gnomAD v4
5g.140114295_140114300dupCA913108320PURAc.114_119dup (p.Gly40_Gly41insGlyGly)
n.579_584dup
gnomAD v4
5g.140114295_140114300delCA2573139224PURAc.114_119del (p.Gly39_Gly40del)
n.579_584del
ClinVar dbSNP
5g.140114295_140114315delCA2675565413PURAc.114_134del (p.Gly39_Gly45del)
ClinVar gnomAD v4
5g.140114291G>ACA361489324PURAc.110G>A (p.Gly37Asp)
n.575G>A
gnomAD v4
5g.140114291G>CCA361489327PURAc.110G>C (p.Gly37Ala)
n.575G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114291G=CA1586593272PURAc.110G= (p.Gly37=)
n.575G=
5g.140114291G>TCA361489323PURAc.110G>T (p.Gly37Val)
n.575G>T
5g.140114292C>ACA446758598PURAc.111C>A (p.Gly37=)
n.576C>A
gnomAD v4
5g.140114292C=CA1586593281PURAc.111C= (p.Gly37=)
n.576C=
5g.140114292C>GCA446758600PURAc.111C>G (p.Gly37=)
n.576C>G
ClinVar gnomAD v4
5g.140114292C>TCA446758602PURAc.111C>T (p.Gly37=)
n.576C>T
gnomAD v4
5g.140114293G>ACA361489333PURAc.112G>A (p.Gly38Arg)
n.577G>A
ClinVar gnomAD v4
5g.140114293G>CCA361489330PURAc.112G>C (p.Gly38Arg)
n.577G>C
gnomAD v4
5g.140114293G>TCA361489336PURAc.112G>T (p.Gly38Trp)
n.577G>T
gnomAD v4
5g.140114297dupCA10602967PURAc.116dup (p.Gly40ArgfsTer?)
n.581dup
ClinVar dbSNP
5g.140114295_140114297dupCA1586593296PURAc.114_116dup (p.Gly39_Gly40insGly)
n.579_581dup
dbSNP
5g.140114297delCA2675565414PURAc.116del (p.Gly39AlafsTer?)
n.581del
ClinVar gnomAD v4
5g.140114295_140114297delCA2578424822PURAc.114_116del (p.Gly39del)
n.579_581del
5g.140114294G>ACA361489340PURAc.113G>A (p.Gly38Glu)
n.578G>A
5g.140114294G>CCA361489344PURAc.113G>C (p.Gly38Ala)
n.578G>C
5g.140114294G>TCA361489342PURAc.113G>T (p.Gly38Val)
n.578G>T
gnomAD v4
5g.140114295G>ACA446758614PURAc.114G>A (p.Gly38=)
n.579G>A
dbSNP gnomAD v4
5g.140114295G>CCA446758616PURAc.114G>C (p.Gly38=)
n.579G>C
dbSNP gnomAD v4
5g.140114295G=CA1586593306PURAc.114G= (p.Gly38=)
n.579G=
5g.140114295G>TCA446758619PURAc.114G>T (p.Gly38=)
n.579G>T
gnomAD v4
5g.140114295_140114304delinsGGGCGGCGGCCA1586593307PURAc.114_123delinsGGGCGGCGGC (p.Gly38=)
n.579_588delinsGGGCGGCGGC
5g.140114295_140114310delinsGGGCGGCGGCGGCAGTCA1586593303PURAc.114_129delinsGGGCGGCGGCGGCAGT (p.Gly38=)
n.579_594delinsGGGCGGCGGCGGCAGT
5g.140114295_140114313delinsGGGCGGCGGCGGCAGTGGCCA1586593310PURAc.114_132delinsGGGCGGCGGCGGCAGTGGC (p.Gly38=)
n.579_597delinsGGGCGGCGGCGGCAGTGGC
5g.140114295_140114322delinsGGGCGGCGGCGGCAGTGGCGGCGGCGGCCA1586593308PURAc.114_141delinsGGGCGGCGGCGGCAGTGGCGGCGGCGGC (p.Gly38=)
5g.140114296G>ACA361489348PURAc.115G>A (p.Gly39Ser)
n.580G>A
gnomAD v4
5g.140114296G>CCA361489351PURAc.115G>C (p.Gly39Arg)
n.580G>C
5g.140114296G>TCA361489354PURAc.115G>T (p.Gly39Cys)
n.580G>T
5g.140114305_140114307dupCA804698876PURAc.124_126dup (p.Gly42_Ser43insGly)
n.589_591dup
ClinVar dbSNP gnomAD v4
5g.140114305_140114307delCA913108321PURAc.124_126del (p.Gly42del)
n.589_591del
gnomAD v3 gnomAD v4
5g.140114302_140114307delCA1586593339PURAc.121_126del (p.Gly41_Gly42del)
n.586_591del
dbSNP
5g.140114299_140114307delCA804698875PURAc.118_126del (p.Gly40_Gly42del)
n.583_591del
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114308_140114322dupCA563504662PURAc.127_141dup (p.Gly47_Gly48insSerGlyGlyGlyGly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114308_140114322delCA804698874PURAc.127_141del (p.Ser43_Gly47del)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114308_140114325dupCA2675565415PURAc.127_144dup (p.Gly48_Gly49insSerGlyGlyGlyGlyGly)
gnomAD v4
5g.140114308_140114325delCA128789393PURAc.127_144del (p.Ser43_Gly48del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114307_140114327dupCA913108322PURAc.126_146dup (p.Gly49_Ala50insSerGlyGlyGlyGlyGlyGly)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114307_140114327delCA3437414PURAc.126_146del (p.Ser43_Gly49del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140114304_140114327delCA128789394PURAc.123_146del (p.Gly42_Gly49del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114301_140114327delCA3437415PURAc.120_146del (p.Gly41_Gly49del)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.140114297G>ACA361489361PURAc.116G>A (p.Gly39Asp)
n.581G>A
gnomAD v4
5g.140114297G>CCA361489363PURAc.116G>C (p.Gly39Ala)
n.581G>C
5g.140114297G>TCA361489365PURAc.116G>T (p.Gly39Val)
n.581G>T
5g.140114298C>ACA446758637PURAc.117C>A (p.Gly39=)
n.582C>A
gnomAD v4
5g.140114298C=CA1586593373PURAc.117C= (p.Gly39=)
n.582C=
5g.140114298C>GCA128789395PURAc.117C>G (p.Gly39=)
n.582C>G
dbSNP
5g.140114298C>TCA446758640PURAc.117C>T (p.Gly39=)
n.582C>T
ClinVar dbSNP gnomAD v4
5g.140114298_140114299delinsCGCA1586593369PURAc.117_118delinsCG (p.Gly39=)
n.582_583delinsCG
5g.140114298_140114310delinsCGGCGGCGGCAGTCA1586593365PURAc.117_129delinsCGGCGGCGGCAGT (p.Gly39=)
n.582_594delinsCGGCGGCGGCAGT
5g.140114299G>ACA361489369PURAc.118G>A (p.Gly40Ser)
n.583G>A
gnomAD v4
5g.140114299G>CCA361489371PURAc.118G>C (p.Gly40Arg)
n.583G>C
5g.140114299G>TCA361489373PURAc.118G>T (p.Gly40Cys)
n.583G>T
gnomAD v4
5g.140114300delCA915942633PURAc.119del (p.Gly40AlafsTer?)
n.584del
ClinVar dbSNP
5g.140114308_140114319dupCA1082183802PURAc.127_138dup (p.Gly46_Gly47insSerGlyGlyGly)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114308_140114319delCA3437416PURAc.127_138del (p.Ser43_Gly46del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.140114300G>ACA361489382PURAc.119G>A (p.Gly40Asp)
n.584G>A
gnomAD v4
5g.140114300G>CCA361489377PURAc.119G>C (p.Gly40Ala)
n.584G>C
5g.140114300G>TCA361489380PURAc.119G>T (p.Gly40Val)
n.584G>T
gnomAD v4
5g.140114301C>ACA446758655PURAc.120C>A (p.Gly40=)
n.585C>A
gnomAD v4
5g.140114301C=CA1586593388PURAc.120C= (p.Gly40=)
n.585C=
5g.140114301C>GCA446758657PURAc.120C>G (p.Gly40=)
n.585C>G
5g.140114301C>TCA446758659PURAc.120C>T (p.Gly40=)
n.585C>T
dbSNP gnomAD v3 gnomAD v4
5g.140114301_140114310delinsCGGCGGCAGTCA1586593385PURAc.120_129delinsCGGCGGCAGT (p.Gly40=)
n.585_594delinsCGGCGGCAGT
5g.140114302G>ACA361489386PURAc.121G>A (p.Gly41Ser)
n.586G>A
gnomAD v4
5g.140114302G>CCA361489389PURAc.121G>C (p.Gly41Arg)
n.586G>C
5g.140114302G=CA1586593395PURAc.121G= (p.Gly41=)
n.586G=
5g.140114302G>TCA361489391PURAc.121G>T (p.Gly41Cys)
n.586G>T
5g.140114308_140114316delCA3437417PURAc.127_135del (p.Ser43_Gly45del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140114303G>ACA361489398PURAc.122G>A (p.Gly41Asp)
n.587G>A
gnomAD v4
5g.140114303G>CCA361489401PURAc.122G>C (p.Gly41Ala)
n.587G>C
5g.140114303G>TCA361489404PURAc.122G>T (p.Gly41Val)
n.587G>T
gnomAD v4
5g.140114304_140114309dupCA128789396PURAc.123_128dup (p.Ser43_Gly44insGlySer)
n.588_593dup
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114304C>ACA446758674PURAc.123C>A (p.Gly41=)
n.588C>A
gnomAD v4
5g.140114304C=CA1586593407PURAc.123C= (p.Gly41=)
n.588C=
5g.140114304C>GCA446758677PURAc.123C>G (p.Gly41=)
n.588C>G
dbSNP gnomAD v4
5g.140114304C>TCA446758672PURAc.123C>T (p.Gly41=)
n.588C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114307_140114308insGGTGGCGGCGGGGGCGGCGTCGGCCA2675565416PURAc.126_127insGGTGGCGGCGGGGGCGGCGTCGGC (p.Gly42_Ser43insGlyGlyGlyGlyGlyGlyValGly)
n.591_592insGGTGGCGGCGGGGGCGGCGTCGGC
gnomAD v4
5g.140114305G>ACA361489410PURAc.124G>A (p.Gly42Ser)
n.589G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114305G>CCA361489413PURAc.124G>C (p.Gly42Arg)
n.589G>C
5g.140114305G=CA1586593411PURAc.124G= (p.Gly42=)
n.589G=
5g.140114305G>TCA361489417PURAc.124G>T (p.Gly42Cys)
n.589G>T
5g.140114308_140114313dupCA2675565417PURAc.127_132dup (p.Gly44_Gly45insSerGly)
gnomAD v4
5g.140114308_140114313delCA2675565418PURAc.127_132del (p.Ser43_Gly44del)
n.592_597del
gnomAD v4
5g.140114306G>ACA361489424PURAc.125G>A (p.Gly42Asp)
n.590G>A
gnomAD v4
5g.140114306G>CCA361489422PURAc.125G>C (p.Gly42Ala)
n.590G>C
5g.140114306G>TCA361489419PURAc.125G>T (p.Gly42Val)
n.590G>T
gnomAD v4
5g.140114307_140114309delCA2578424823PURAc.126_128del (p.Ser43del)
n.591_593del
5g.140114307C>ACA446758695PURAc.126C>A (p.Gly42=)
n.591C>A
5g.140114307C>GCA446758693PURAc.126C>G (p.Gly42=)
n.591C>G
5g.140114307C>TCA446758690PURAc.126C>T (p.Gly42=)
n.591C>T
gnomAD v4
5g.140114307_140114311delinsCAGTGCA1586593415PURAc.126_130delinsCAGTG (p.Gly42=)
n.591_595delinsCAGTG
5g.140114308A=CA1586593419PURAc.127A= (p.Ser43=)
n.592A=
5g.140114308A>CCA361489429PURAc.127A>C (p.Ser43Arg)
n.592A>C
gnomAD v4
5g.140114308A>GCA361489432PURAc.127A>G (p.Ser43Gly)
n.592A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.140114308A>TCA361489435PURAc.127A>T (p.Ser43Cys)
n.592A>T
5g.140114308_140114311delCA1139659095PURAc.127_130del (p.Ser43AlafsTer?)
n.592_595del
ClinVar dbSNP
5g.140114309G>ACA361489439PURAc.128G>A (p.Ser43Asn)
n.593G>A
dbSNP gnomAD v4
5g.140114309G>CCA361489448PURAc.128G>C (p.Ser43Thr)
n.593G>C
5g.140114309G=CA1586593423PURAc.128G= (p.Ser43=)
n.593G=
5g.140114309G>TCA361489453PURAc.128G>T (p.Ser43Ile)
n.593G>T
gnomAD v4
5g.140114310_140114312dupCA1586593422PURAc.129_131dup (p.Gly44_Gly45insGly)
n.594_596dup
dbSNP
5g.140114310_140114315dupCA2675565419PURAc.129_134dup (p.Gly45_Gly46insGlyGly)
gnomAD v4
5g.140114310_140114324delCA2675565420PURAc.129_143del (p.Gly44_Gly48del)
gnomAD v4
5g.140114310T>ACA361489458PURAc.129T>A (p.Ser43Arg)
n.594T>A
5g.140114310T>CCA446758710PURAc.129T>C (p.Ser43=)
n.594T>C
ClinVar gnomAD v4
5g.140114310T>GCA361489461PURAc.129T>G (p.Ser43Arg)
n.594T>G
dbSNP gnomAD v4
5g.140114310T=CA1586593428PURAc.129T= (p.Ser43=)
n.594T=
5g.140114310_140114319delinsTGGCGGCGGCCA1586593427PURAc.129_138delinsTGGCGGCGGC (p.Ser43=)
5g.140114311G>ACA361489483PURAc.130G>A (p.Gly44Ser)
n.595G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114311G>CCA361489493PURAc.130G>C (p.Gly44Arg)
n.595G>C
5g.140114311G=CA1586593456PURAc.130G= (p.Gly44=)
n.595G=
5g.140114311G>TCA361489479PURAc.130G>T (p.Gly44Cys)
n.595G>T
gnomAD v4
5g.140114325_140114327dupCA3437420PURAc.144_146dup (p.Gly49_Ala50insGly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140114322_140114327dupCA3437418PURAc.141_146dup (p.Gly49_Ala50insGlyGly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140114319_140114327dupCA804698929PURAc.138_146dup (p.Gly49_Ala50insGlyGlyGly)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.140114325_140114327delCA3437419PURAc.144_146del (p.Gly49del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.140114322_140114327delCA128789397PURAc.141_146del (p.Gly48_Gly49del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114319_140114327delCA563504663PURAc.138_146del (p.Gly47_Gly49del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114312G>ACA361489498PURAc.131G>A (p.Gly44Asp)
n.596G>A
gnomAD v4
5g.140114312G>CCA361489501PURAc.131G>C (p.Gly44Ala)
n.596G>C
5g.140114312G>TCA361489504PURAc.131G>T (p.Gly44Val)
n.596G>T
5g.140114313C>ACA446758737PURAc.132C>A (p.Gly44=)
n.597C>A
gnomAD v4
5g.140114313C=CA1586593469PURAc.132C= (p.Gly44=)
n.597C=
5g.140114313C>GCA446758739PURAc.132C>G (p.Gly44=)
n.597C>G
5g.140114313C>TCA446758734PURAc.132C>T (p.Gly44=)
n.597C>T
dbSNP gnomAD v3 gnomAD v4
5g.140114313_140114314insAGTCA2675565421PURAc.132_133insAGT (p.Gly44_Gly45insSer)
gnomAD v4
5g.140114314G>ACA361489508PURAc.133G>A (p.Gly45Ser)
dbSNP gnomAD v4
5g.140114314G>CCA361489506PURAc.133G>C (p.Gly45Arg)
5g.140114314G=CA1586593475PURAc.133G= (p.Gly45=)
5g.140114314G>TCA361489507PURAc.133G>T (p.Gly45Cys)
dbSNP gnomAD v3 gnomAD v4
5g.140114322_140114323insAGTGGCGGCGGCCA2675565422PURAc.141_142insAGTGGCGGCGGC (p.Gly47_Gly48insSerGlyGlyGly)
gnomAD v4
5g.140114315G>ACA361489509PURAc.134G>A (p.Gly45Asp)
gnomAD v4
5g.140114315G>CCA361489510PURAc.134G>C (p.Gly45Ala)
dbSNP gnomAD v3 gnomAD v4
5g.140114315G=CA1586593480PURAc.134G= (p.Gly45=)
5g.140114315G>TCA361489511PURAc.134G>T (p.Gly45Val)
gnomAD v4
5g.140114316C>ACA446758750PURAc.135C>A (p.Gly45=)
gnomAD v4
5g.140114316C=CA1586593487PURAc.135C= (p.Gly45=)
5g.140114316C>GCA446758752PURAc.135C>G (p.Gly45=)
dbSNP gnomAD v4
5g.140114316C>TCA446758754PURAc.135C>T (p.Gly45=)
gnomAD v4
5g.140114316_140114317delinsCGCA1586593484PURAc.135_136delinsCG (p.Gly45=)
5g.140114316_140114319dupCA2695205319PURAc.135_138dup (p.Gly47ArgfsTer?)
5g.140114317G>ACA361489513PURAc.136G>A (p.Gly46Ser)
dbSNP gnomAD v3 gnomAD v4
5g.140114317G>CCA361489514PURAc.136G>C (p.Gly46Arg)
5g.140114317G=CA1586593498PURAc.136G= (p.Gly46=)
5g.140114317G>TCA361489516PURAc.136G>T (p.Gly46Cys)
5g.140114318_140114319insGGGCA2578424824PURAc.137_138insGGG (p.Gly46_Gly47insGly)
5g.140114318delCA658796650PURAc.137del (p.Gly46AlafsTer?)
ClinVar dbSNP
5g.140114318G>ACA361489522PURAc.137G>A (p.Gly46Asp)
gnomAD v4
5g.140114318G>CCA361489526PURAc.137G>C (p.Gly46Ala)
5g.140114318G>TCA361489521PURAc.137G>T (p.Gly46Val)
gnomAD v4
5g.140114319C>ACA446758766PURAc.138C>A (p.Gly46=)
gnomAD v4
5g.140114319C=CA1586593507PURAc.138C= (p.Gly46=)
5g.140114319C>GCA446758768PURAc.138C>G (p.Gly46=)
dbSNP gnomAD v4
5g.140114319C>TCA446758770PURAc.138C>T (p.Gly46=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114320G>ACA361489536PURAc.139G>A (p.Gly47Ser)
ClinVar dbSNP gnomAD v4
5g.140114320G>CCA361489530PURAc.139G>C (p.Gly47Arg)
5g.140114320G=CA1586593522PURAc.139G= (p.Gly47=)
5g.140114320G>TCA361489533PURAc.139G>T (p.Gly47Cys)
gnomAD v4
5g.140114321G>ACA361489537PURAc.140G>A (p.Gly47Asp)
gnomAD v4
5g.140114321G>CCA361489538PURAc.140G>C (p.Gly47Ala)
5g.140114321G>TCA361489540PURAc.140G>T (p.Gly47Val)
gnomAD v4
5g.140114322delCA2675565423PURAc.141del (p.Gly48AlafsTer?)
gnomAD v4
5g.140114322C>ACA446758781PURAc.141C>A (p.Gly47=)
gnomAD v4
5g.140114322C=CA1586593533PURAc.141C= (p.Gly47=)
5g.140114322C>GCA446758783PURAc.141C>G (p.Gly47=)
dbSNP gnomAD v4
5g.140114322C>TCA3437421PURAc.141C>T (p.Gly47=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140114323G>ACA361489548PURAc.142G>A (p.Gly48Ser)
gnomAD v4
5g.140114323G>CCA361489555PURAc.142G>C (p.Gly48Arg)
5g.140114323G>TCA361489553PURAc.142G>T (p.Gly48Cys)
gnomAD v4
5g.140114324dupCA361489560PURAc.143dup (p.Gly49ArgfsTer?)
dbSNP gnomAD v4
5g.140114323_140114325delinsGGCCA1586593539PURAc.142_144delinsGGC (p.Gly48=)
5g.140114324G>ACA361489565PURAc.143G>A (p.Gly48Asp)
gnomAD v4
5g.140114324G>CCA361489569PURAc.143G>C (p.Gly48Ala)
5g.140114324G>TCA361489572PURAc.143G>T (p.Gly48Val)
gnomAD v4
5g.140114324_140114325delinsGCCA1586593543PURAc.143_144delinsGC (p.Gly48=)
5g.140114325_140114326delCA361489576PURAc.144_145del (p.Ala50ProfsTer?)
dbSNP gnomAD v4
5g.140114325delCA1139659096PURAc.144del (p.Ala50ProfsTer28)
ClinVar dbSNP gnomAD v4
5g.140114325C>ACA446758800PURAc.144C>A (p.Gly48=)
gnomAD v4
5g.140114325C=CA1586593552PURAc.144C= (p.Gly48=)
5g.140114325C>GCA446758802PURAc.144C>G (p.Gly48=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.140114325C>TCA446758804PURAc.144C>T (p.Gly48=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114325_140114328delinsCGGGCA1586593555PURAc.144_147delinsCGGG (p.Gly48=)
5g.140114326G>ACA128789398PURAc.145G>A (p.Gly49Arg)
dbSNP gnomAD v4
5g.140114326G>CCA361489588PURAc.145G>C (p.Gly49Arg)
5g.140114326G=CA1586593568PURAc.145G= (p.Gly49=)
5g.140114326G>TCA361489584PURAc.145G>T (p.Gly49Trp)
gnomAD v4
5g.140114329dupCA361489581PURAc.148dup (p.Ala50GlyfsTer?)
dbSNP
5g.140114329delCA1139659097PURAc.148del (p.Ala50ProfsTer28)
ClinVar dbSNP gnomAD v4
5g.140114327_140114329delCA1586593561PURAc.146_148del (p.Gly49del)
dbSNP gnomAD v4
5g.140114327G>ACA361489594PURAc.146G>A (p.Gly49Glu)
gnomAD v4
5g.140114327G>CCA361489596PURAc.146G>C (p.Gly49Ala)
5g.140114327G=CA1586593578PURAc.146G= (p.Gly49=)
5g.140114327G>TCA3437422PURAc.146G>T (p.Gly49Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140114330_140114337dupCA915942634PURAc.149_156dup (p.Gly53ProfsTer28)
ClinVar dbSNP
5g.140114328G>ACA446758820PURAc.147G>A (p.Gly49=)
gnomAD v4
5g.140114328G>CCA446758822PURAc.147G>C (p.Gly49=)
ClinVar dbSNP gnomAD v4
5g.140114328G=CA1586593585PURAc.147G= (p.Gly49=)
5g.140114328G>TCA446758823PURAc.147G>T (p.Gly49=)
gnomAD v4
5g.140114329G>ACA361489600PURAc.148G>A (p.Ala50Thr)
gnomAD v4
5g.140114329G>CCA361489602PURAc.148G>C (p.Ala50Pro)
5g.140114329G=CA1586593589PURAc.148G= (p.Ala50=)
5g.140114329G>TCA361489605PURAc.148G>T (p.Ala50Ser)
dbSNP gnomAD v3 gnomAD v4
5g.140114330C>ACA361489607PURAc.149C>A (p.Ala50Asp)
gnomAD v4
5g.140114330C=CA1586593591PURAc.149C= (p.Ala50=)
5g.140114330C>GCA361489609PURAc.149C>G (p.Ala50Gly)
gnomAD v4
5g.140114330C>TCA3437423PURAc.149C>T (p.Ala50Val)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.140114333dupCA2675565424PURAc.152dup (p.Gly52ArgfsTer?)
gnomAD v4
5g.140114333delCA2675565425PURAc.152del (p.Pro51GlnfsTer27)
gnomAD v4
5g.140114331C>ACA446758836PURAc.150C>A (p.Ala50=)
gnomAD v4
5g.140114331C=CA1586593595PURAc.150C= (p.Ala50=)
5g.140114331C>GCA446758838PURAc.150C>G (p.Ala50=)
5g.140114331C>TCA3437424PURAc.150C>T (p.Ala50=)
dbSNP ExAC gnomAD v4
5g.140114332C>ACA361489621PURAc.151C>A (p.Pro51Thr)
gnomAD v4
5g.140114332C=CA1586593601PURAc.151C= (p.Pro51=)
5g.140114332C>GCA361489618PURAc.151C>G (p.Pro51Ala)
5g.140114332C>TCA361489615PURAc.151C>T (p.Pro51Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114332_140114342delCA2695205320PURAc.151_161del (p.Pro51AlafsTer?)
5g.140114333C>ACA361489624PURAc.152C>A (p.Pro51Gln)
5g.140114333C>GCA361489626PURAc.152C>G (p.Pro51Arg)
5g.140114333C>TCA361489628PURAc.152C>T (p.Pro51Leu)
gnomAD v4
5g.140114333_140114334delinsCACA1586593604PURAc.152_153delinsCA (p.Pro51=)
5g.140114334delCA658796651PURAc.153del (p.Leu54CysfsTer24)
ClinVar dbSNP
5g.140114334A=CA1586593612PURAc.153A= (p.Pro51=)
5g.140114334A>CCA3437425PURAc.153A>C (p.Pro51=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.140114334A>GCA446758856PURAc.153A>G (p.Pro51=)
gnomAD v4
5g.140114334A>TCA3437426PURAc.153A>T (p.Pro51=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140114335G>ACA361489634PURAc.154G>A (p.Gly52Arg)
5g.140114335G>CCA361489636PURAc.154G>C (p.Gly52Arg)
5g.140114335G>TCA361489638PURAc.154G>T (p.Gly52Trp)
gnomAD v4
5g.140114340dupCA645372805PURAc.159dup (p.Leu54AlafsTer?)
ClinVar dbSNP gnomAD v4
5g.140114340delCA645548774PURAc.159del (p.Leu54CysfsTer24)
ClinVar gnomAD v4 COSMIC
5g.140114339_140114340delCA658774046PURAc.158_159del (p.Gly53AlafsTer?)
5g.140114336G>ACA3437428PURAc.155G>A (p.Gly52Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.140114336G>CCA361489648PURAc.155G>C (p.Gly52Ala)
gnomAD v4
5g.140114336G=CA1586593634PURAc.155G= (p.Gly52=)
5g.140114336G>TCA3437427PURAc.155G>T (p.Gly52Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.140114337G>ACA3437429PURAc.156G>A (p.Gly52=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140114337G>CCA446758872PURAc.156G>C (p.Gly52=)
5g.140114337G=CA1586593641PURAc.156G= (p.Gly52=)
5g.140114337G>TCA446758874PURAc.156G>T (p.Gly52=)
gnomAD v4
5g.140114338G>ACA361489655PURAc.157G>A (p.Gly53Arg)
gnomAD v4
5g.140114338G>CCA361489658PURAc.157G>C (p.Gly53Arg)
5g.140114338G>TCA361489661PURAc.157G>T (p.Gly53Trp)
gnomAD v4
5g.140114339G>ACA361489667PURAc.158G>A (p.Gly53Glu)
gnomAD v4
5g.140114339G>CCA361489673PURAc.158G>C (p.Gly53Ala)
dbSNP gnomAD v4
5g.140114339G=CA1586593644PURAc.158G= (p.Gly53=)
5g.140114339G>TCA361489669PURAc.158G>T (p.Gly53Val)
dbSNP gnomAD v4
5g.140114340G>ACA446758887PURAc.159G>A (p.Gly53=)
dbSNP gnomAD v4
5g.140114340G>CCA446758890PURAc.159G>C (p.Gly53=)
gnomAD v4
5g.140114340G=CA1586593651PURAc.159G= (p.Gly53=)
5g.140114340G>TCA446758892PURAc.159G>T (p.Gly53=)
dbSNP gnomAD v4
5g.140114341C>ACA361489678PURAc.160C>A (p.Leu54Met)
gnomAD v4
5g.140114341C=CA1586593655PURAc.160C= (p.Leu54=)
5g.140114341C>GCA361489683PURAc.160C>G (p.Leu54Val)
gnomAD v4
5g.140114341C>TCA446758896PURAc.160C>T (p.Leu54=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114342T>ACA361489688PURAc.161T>A (p.Leu54Gln)
5g.140114342T>CCA361489691PURAc.161T>C (p.Leu54Pro)
gnomAD v4
5g.140114342T>GCA361489693PURAc.161T>G (p.Leu54Arg)
5g.140114343G>ACA446758910PURAc.162G>A (p.Leu54=)
dbSNP gnomAD v2 gnomAD v4
5g.140114343G>CCA446758907PURAc.162G>C (p.Leu54=)
5g.140114343G=CA1586593659PURAc.162G= (p.Leu54=)
5g.140114343G>TCA446758905PURAc.162G>T (p.Leu54=)
gnomAD v4
5g.140114344C>ACA361489699PURAc.163C>A (p.Gln55Lys)
gnomAD v4
5g.140114344C=CA1586593669PURAc.163C= (p.Gln55=)
5g.140114344C>GCA361489701PURAc.163C>G (p.Gln55Glu)
5g.140114344C>TCA361489711PURAc.163C>T (p.Gln55Ter)
ClinVar dbSNP gnomAD v4
5g.140114345A>CCA361489716PURAc.164A>C (p.Gln55Pro)
5g.140114345A>GCA361489719PURAc.164A>G (p.Gln55Arg)
gnomAD v4
5g.140114345A>TCA361489722PURAc.164A>T (p.Gln55Leu)

Number of alleles fetched