Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.25161501G>ACA425353443POMCc.384C>T (p.Ala128=)
gnomAD v4
2g.25161501G>CCA425353444POMCc.384C>G (p.Ala128=)
2g.25161501G>TCA425353446POMCc.384C>A (p.Ala128=)
2g.25161502G>ACA43684721POMCc.383C>T (p.Ala128Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161502G>CCA346067181POMCc.383C>G (p.Ala128Gly)
dbSNP gnomAD v3 gnomAD v4
2g.25161502G=CA1239227623POMCc.383C= (p.Ala128=)
2g.25161502G>TCA346067180POMCc.383C>A (p.Ala128Asp)
2g.25161503C>ACA346067182POMCc.382G>T (p.Ala128Ser)
2g.25161503C=CA1239227629POMCc.382G= (p.Ala128=)
2g.25161503C>GCA346067184POMCc.382G>C (p.Ala128Pro)
2g.25161503C>TCA346067183POMCc.382G>A (p.Ala128Thr)
dbSNP gnomAD v4
2g.25161504A>CCA425353456POMCc.381T>G (p.Gly127=)
2g.25161504A>GCA425353458POMCc.381T>C (p.Gly127=)
2g.25161504A>TCA425353461POMCc.381T>A (p.Gly127=)
2g.25161505C>ACA1555307POMCc.380G>T (p.Gly127Val)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161505C=CA1239227634POMCc.380G= (p.Gly127=)
2g.25161505C>GCA346067185POMCc.380G>C (p.Gly127Ala)
2g.25161505C>TCA346067186POMCc.380G>A (p.Gly127Asp)
dbSNP gnomAD v2 gnomAD v4
2g.25161506C>ACA1555308POMCc.379G>T (p.Gly127Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161506C=CA1239227642POMCc.379G= (p.Gly127=)
2g.25161506C>GCA346067187POMCc.379G>C (p.Gly127Arg)
2g.25161506C>TCA346067188POMCc.379G>A (p.Gly127Ser)
dbSNP gnomAD v4
2g.25161507A>CCA346067189POMCc.378T>G (p.Asp126Glu)
2g.25161507A>GCA425353465POMCc.378T>C (p.Asp126=)
2g.25161507A>TCA346067190POMCc.378T>A (p.Asp126Glu)
2g.25161508T>ACA346067191POMCc.377A>T (p.Asp126Val)
2g.25161508T>CCA346067192POMCc.377A>G (p.Asp126Gly)
gnomAD v4
2g.25161508T>GCA346067193POMCc.377A>C (p.Asp126Ala)
2g.25161509C>ACA346067196POMCc.376G>T (p.Asp126Tyr)
2g.25161509C=CA1239227647POMCc.376G= (p.Asp126=)
2g.25161509C>GCA346067194POMCc.376G>C (p.Asp126His)
2g.25161509C>TCA346067195POMCc.376G>A (p.Asp126Asn)
dbSNP gnomAD v4
2g.25161510G>ACA425353467POMCc.375C>T (p.Ser125=)
gnomAD v4
2g.25161510G>CCA1555309POMCc.375C>G (p.Ser125Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161510G=CA1239227649POMCc.375C= (p.Ser125=)
2g.25161510G>TCA346067197POMCc.375C>A (p.Ser125Arg)
2g.25161511C>ACA346067198POMCc.374G>T (p.Ser125Ile)
2g.25161511C>GCA346067199POMCc.374G>C (p.Ser125Thr)
2g.25161511C>TCA346067200POMCc.374G>A (p.Ser125Asn)
gnomAD v4
2g.25161512T>ACA346067201POMCc.373A>T (p.Ser125Cys)
2g.25161512T>CCA346067202POMCc.373A>G (p.Ser125Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161512T>GCA346067203POMCc.373A>C (p.Ser125Arg)
2g.25161512T=CA1239227652POMCc.373A= (p.Ser125=)
2g.25161513G>ACA425353483POMCc.372C>T (p.Arg124=)
gnomAD v4
2g.25161513G>CCA425353481POMCc.372C>G (p.Arg124=)
2g.25161513G>TCA425353477POMCc.372C>A (p.Arg124=)
gnomAD v4
2g.25161514C>ACA346067204POMCc.371G>T (p.Arg124Leu)
gnomAD v4
2g.25161514C>GCA346067205POMCc.371G>C (p.Arg124Pro)
2g.25161514C>TCA346067206POMCc.371G>A (p.Arg124His)
gnomAD v4
2g.25161515G>ACA346067208POMCc.370C>T (p.Arg124Cys)
dbSNP gnomAD v2 gnomAD v4
2g.25161515G>CCA346067209POMCc.370C>G (p.Arg124Gly)
2g.25161515G=CA1239227658POMCc.370C= (p.Arg124=)
2g.25161515G>TCA346067207POMCc.370C>A (p.Arg124Ser)
gnomAD v4
2g.25161516G>ACA425353486POMCc.369C>T (p.Pro123=)
2g.25161516G>CCA425353487POMCc.369C>G (p.Pro123=)
2g.25161516G=CA1239227662POMCc.369C= (p.Pro123=)
2g.25161516G>TCA425353488POMCc.369C>A (p.Pro123=)
dbSNP gnomAD v2 gnomAD v4
2g.25161517G>ACA346067210POMCc.368C>T (p.Pro123Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161517G>CCA346067211POMCc.368C>G (p.Pro123Arg)
2g.25161517G=CA1239227668POMCc.368C= (p.Pro123=)
2g.25161517G>TCA346067212POMCc.368C>A (p.Pro123His)
2g.25161518G>ACA346067213POMCc.367C>T (p.Pro123Ser)
dbSNP gnomAD v2 gnomAD v4
2g.25161518G>CCA346067214POMCc.367C>G (p.Pro123Ala)
2g.25161518G=CA1239227673POMCc.367C= (p.Pro123=)
2g.25161518G>TCA346067215POMCc.367C>A (p.Pro123Thr)
gnomAD v4
2g.25161519C>ACA346067217POMCc.366G>T (p.Glu122Asp)
gnomAD v4
2g.25161519C>GCA346067216POMCc.366G>C (p.Glu122Asp)
gnomAD v4
2g.25161519C>TCA425353489POMCc.366G>A (p.Glu122=)
2g.25161520T>ACA346067218POMCc.365A>T (p.Glu122Val)
gnomAD v4
2g.25161520T>CCA346067219POMCc.365A>G (p.Glu122Gly)
2g.25161520T>GCA346067220POMCc.365A>C (p.Glu122Ala)
2g.25161521C>ACA346067221POMCc.364G>T (p.Glu122Ter)
gnomAD v4
2g.25161521C>GCA346067222POMCc.364G>C (p.Glu122Gln)
gnomAD v4
2g.25161521C>TCA346067223POMCc.364G>A (p.Glu122Lys)
gnomAD v4
2g.25161522G>ACA425353493POMCc.363C>T (p.Pro121=)
dbSNP gnomAD v3 gnomAD v4
2g.25161522G>CCA425353495POMCc.363C>G (p.Pro121=)
gnomAD v4
2g.25161522G=CA1239227677POMCc.363C= (p.Pro121=)
2g.25161522G>TCA425353496POMCc.363C>A (p.Pro121=)
gnomAD v4
2g.25161525delCA2658163199POMCc.363del (p.Glu122SerfsTer?)
gnomAD v4
2g.25161523G>ACA346067224POMCc.362C>T (p.Pro121Leu)
gnomAD v4
2g.25161523G>CCA346067226POMCc.362C>G (p.Pro121Arg)
2g.25161523G>TCA346067225POMCc.362C>A (p.Pro121His)
gnomAD v4
2g.25161524G>ACA1555310POMCc.361C>T (p.Pro121Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161524G>CCA346067227POMCc.361C>G (p.Pro121Ala)
2g.25161524G=CA1239227683POMCc.361C= (p.Pro121=)
2g.25161524G>TCA346067228POMCc.361C>A (p.Pro121Thr)
dbSNP gnomAD v3 gnomAD v4
2g.25161525G>ACA1555311POMCc.360C>T (p.Gly120=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161525G>CCA425353500POMCc.360C>G (p.Gly120=)
2g.25161525G=CA1239227688POMCc.360C= (p.Gly120=)
2g.25161525G>TCA425353501POMCc.360C>A (p.Gly120=)
2g.25161526C>ACA1555312POMCc.359G>T (p.Gly120Val)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161526C=CA1239227694POMCc.359G= (p.Gly120=)
2g.25161526C>GCA346067229POMCc.359G>C (p.Gly120Ala)
2g.25161526C>TCA43684744POMCc.359G>A (p.Gly120Asp)
dbSNP gnomAD v4
2g.25161527C>ACA346067230POMCc.358G>T (p.Gly120Cys)
2g.25161527C>GCA346067231POMCc.358G>C (p.Gly120Arg)
gnomAD v4
2g.25161527C>TCA346067232POMCc.358G>A (p.Gly120Ser)
2g.25161528G>ACA1555313POMCc.357C>T (p.Gly119=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161528G>CCA425353506POMCc.357C>G (p.Gly119=)
gnomAD v4
2g.25161528G=CA1239227702POMCc.357C= (p.Gly119=)
2g.25161528G>TCA1555314POMCc.357C>A (p.Gly119=)
dbSNP ExAC gnomAD v4
2g.25161529C>ACA346067235POMCc.356G>T (p.Gly119Val)
2g.25161529C=CA1239227708POMCc.356G= (p.Gly119=)
2g.25161529C>GCA346067234POMCc.356G>C (p.Gly119Ala)
2g.25161529C>TCA346067233POMCc.356G>A (p.Gly119Asp)
dbSNP gnomAD v2 gnomAD v4
2g.25161530C>ACA346067236POMCc.355G>T (p.Gly119Cys)
2g.25161530C=CA1239227711POMCc.355G= (p.Gly119=)
2g.25161530C>GCA346067238POMCc.355G>C (p.Gly119Arg)
2g.25161530C>TCA346067237POMCc.355G>A (p.Gly119Ser)
dbSNP
2g.25161531C>ACA346067239POMCc.354G>T (p.Glu118Asp)
2g.25161531C>GCA346067240POMCc.354G>C (p.Glu118Asp)
2g.25161531C>TCA425353509POMCc.354G>A (p.Glu118=)
2g.25161532T>ACA346067241POMCc.353A>T (p.Glu118Val)
2g.25161532T>CCA346067242POMCc.353A>G (p.Glu118Gly)
gnomAD v4
2g.25161532T>GCA346067243POMCc.353A>C (p.Glu118Ala)
2g.25161533C>ACA346067244POMCc.352G>T (p.Glu118Ter)
2g.25161533C>GCA346067245POMCc.352G>C (p.Glu118Gln)
2g.25161533C>TCA346067246POMCc.352G>A (p.Glu118Lys)
gnomAD v4
2g.25161534A=CA1239227716POMCc.351T= (p.Pro117=)
2g.25161534A>CCA425353510POMCc.351T>G (p.Pro117=)
2g.25161534A>GCA425353511POMCc.351T>C (p.Pro117=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161534A>TCA425353512POMCc.351T>A (p.Pro117=)
2g.25161535G>ACA346067247POMCc.350C>T (p.Pro117Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161535G>CCA346067248POMCc.350C>G (p.Pro117Arg)
gnomAD v4
2g.25161535G=CA1239227718POMCc.350C= (p.Pro117=)
2g.25161535G>TCA346067249POMCc.350C>A (p.Pro117His)
dbSNP gnomAD v2 gnomAD v4
2g.25161536G>ACA346067250POMCc.349C>T (p.Pro117Ser)
gnomAD v4
2g.25161536G>CCA346067251POMCc.349C>G (p.Pro117Ala)
2g.25161536G>TCA346067252POMCc.349C>A (p.Pro117Thr)
gnomAD v4
2g.25161537C>ACA425353514POMCc.348G>T (p.Leu116=)
dbSNP gnomAD v3 gnomAD v4
2g.25161537C=CA1239227725POMCc.348G= (p.Leu116=)
2g.25161537C>GCA425353515POMCc.348G>C (p.Leu116=)
2g.25161537C>TCA425353516POMCc.348G>A (p.Leu116=)
COSMIC
2g.25161538A>CCA346067253POMCc.347T>G (p.Leu116Arg)
2g.25161538A>GCA346067255POMCc.347T>C (p.Leu116Pro)
2g.25161538A>TCA346067254POMCc.347T>A (p.Leu116Gln)
2g.25161539G>ACA1555315POMCc.346C>T (p.Leu116=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161539G>CCA346067256POMCc.346C>G (p.Leu116Val)
2g.25161539G=CA1239227732POMCc.346C= (p.Leu116=)
2g.25161539G>TCA346067257POMCc.346C>A (p.Leu116Met)
2g.25161540C>ACA1555316POMCc.345G>T (p.Pro115=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161540C=CA1239227737POMCc.345G= (p.Pro115=)
2g.25161540C>GCA425353518POMCc.345G>C (p.Pro115=)
2g.25161540C>TCA425353519POMCc.345G>A (p.Pro115=)
dbSNP gnomAD v2 gnomAD v4
2g.25161541G>ACA346067258POMCc.344C>T (p.Pro115Leu)
dbSNP gnomAD v2 gnomAD v4
2g.25161541G>CCA43684769POMCc.344C>G (p.Pro115Arg)
dbSNP
2g.25161541G=CA1239227740POMCc.344C= (p.Pro115=)
2g.25161541G>TCA346067259POMCc.344C>A (p.Pro115Gln)
gnomAD v4
2g.25161542G>ACA346067260POMCc.343C>T (p.Pro115Ser)
dbSNP
2g.25161542G>CCA346067261POMCc.343C>G (p.Pro115Ala)
dbSNP
2g.25161542G=CA1239227743POMCc.343C= (p.Pro115=)
2g.25161542G>TCA346067262POMCc.343C>A (p.Pro115Thr)
gnomAD v4
2g.25161543G>ACA425353521POMCc.342C>T (p.Gly114=)
dbSNP gnomAD v4
2g.25161543G>CCA425353522POMCc.342C>G (p.Gly114=)
2g.25161543G=CA1239227747POMCc.342C= (p.Gly114=)
2g.25161543G>TCA425353523POMCc.342C>A (p.Gly114=)
2g.25161544C>ACA346067264POMCc.341G>T (p.Gly114Val)
2g.25161544C>GCA346067265POMCc.341G>C (p.Gly114Ala)
2g.25161544C>TCA346067263POMCc.341G>A (p.Gly114Asp)
gnomAD v4
2g.25161545C>ACA346067266POMCc.340G>T (p.Gly114Cys)
2g.25161545C=CA1239227751POMCc.340G= (p.Gly114=)
2g.25161545C>GCA346067267POMCc.340G>C (p.Gly114Arg)
2g.25161545C>TCA346067268POMCc.340G>A (p.Gly114Ser)
dbSNP gnomAD v3 gnomAD v4
2g.25161546G>ACA425353527POMCc.339C>T (p.Cys113=)
dbSNP gnomAD v4 COSMIC
2g.25161546G>CCA346067269POMCc.339C>G (p.Cys113Trp)
2g.25161546G=CA1239227755POMCc.339C= (p.Cys113=)
2g.25161546G>TCA346067270POMCc.339C>A (p.Cys113Ter)
gnomAD v4
2g.25161547C>ACA346067271POMCc.338G>T (p.Cys113Phe)
2g.25161547C>GCA346067272POMCc.338G>C (p.Cys113Ser)
2g.25161547C>TCA346067273POMCc.338G>A (p.Cys113Tyr)
gnomAD v4
2g.25161548A=CA1239227762POMCc.337T= (p.Cys113=)
2g.25161548A>CCA346067274POMCc.337T>G (p.Cys113Gly)
2g.25161548A>GCA346067275POMCc.337T>C (p.Cys113Arg)
dbSNP gnomAD v4
2g.25161548A>TCA346067276POMCc.337T>A (p.Cys113Ser)
dbSNP gnomAD v2 gnomAD v4
2g.25161549G>ACA425353531POMCc.336C>T (p.Asp112=)
gnomAD v4
2g.25161549G>CCA346067277POMCc.336C>G (p.Asp112Glu)
2g.25161549G>TCA346067278POMCc.336C>A (p.Asp112Glu)
2g.25161550T>ACA346067281POMCc.335A>T (p.Asp112Val)
2g.25161550T>CCA346067280POMCc.335A>G (p.Asp112Gly)
gnomAD v4
2g.25161550T>GCA346067279POMCc.335A>C (p.Asp112Ala)
2g.25161551C>ACA1555317POMCc.334G>T (p.Asp112Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161551C=CA1239227764POMCc.334G= (p.Asp112=)
2g.25161551C>GCA346067282POMCc.334G>C (p.Asp112His)
gnomAD v4
2g.25161551C>TCA346067283POMCc.334G>A (p.Asp112Asn)
dbSNP gnomAD v2
2g.25161552T>ACA346067284POMCc.333A>T (p.Glu111Asp)
2g.25161552T>CCA1555318POMCc.333A>G (p.Glu111=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161552T>GCA346067285POMCc.333A>C (p.Glu111Asp)
2g.25161552T=CA1239227771POMCc.333A= (p.Glu111=)
2g.25161553T>ACA346067286POMCc.332A>T (p.Glu111Val)
2g.25161553T>CCA346067287POMCc.332A>G (p.Glu111Gly)
gnomAD v4
2g.25161553T>GCA346067288POMCc.332A>C (p.Glu111Ala)
2g.25161554C>ACA346067289POMCc.331G>T (p.Glu111Ter)
gnomAD v4
2g.25161554C>GCA346067290POMCc.331G>C (p.Glu111Gln)
2g.25161554C>TCA346067291POMCc.331G>A (p.Glu111Lys)
gnomAD v4
2g.25161555G>ACA425353534POMCc.330C>T (p.Gly110=)
dbSNP gnomAD v4
2g.25161555G>CCA425353535POMCc.330C>G (p.Gly110=)
2g.25161555G=CA1239227776POMCc.330C= (p.Gly110=)
2g.25161555G>TCA425353537POMCc.330C>A (p.Gly110=)
gnomAD v4
2g.25161556C>ACA346067294POMCc.329G>T (p.Gly110Val)
2g.25161556C>GCA346067293POMCc.329G>C (p.Gly110Ala)
2g.25161556C>TCA346067292POMCc.329G>A (p.Gly110Asp)
gnomAD v4
2g.25161557C>ACA346067295POMCc.328G>T (p.Gly110Cys)
gnomAD v4
2g.25161557C=CA1239227778POMCc.328G= (p.Gly110=)
2g.25161557C>GCA346067297POMCc.328G>C (p.Gly110Arg)
2g.25161557C>TCA346067296POMCc.328G>A (p.Gly110Ser)
dbSNP gnomAD v4
2g.25161558C>ACA425353539POMCc.327G>T (p.Ala109=)
dbSNP
2g.25161558C=CA1239227782POMCc.327G= (p.Ala109=)
2g.25161558C>GCA1555319POMCc.327G>C (p.Ala109=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161558C>TCA425353540POMCc.327G>A (p.Ala109=)
gnomAD v4
2g.25161559G>ACA346067298POMCc.326C>T (p.Ala109Val)
gnomAD v4 COSMIC
2g.25161559G>CCA346067299POMCc.326C>G (p.Ala109Gly)
dbSNP gnomAD v2 gnomAD v4
2g.25161559G=CA1239227784POMCc.326C= (p.Ala109=)
2g.25161559G>TCA346067300POMCc.326C>A (p.Ala109Glu)
gnomAD v4
2g.25161560C>ACA346067301POMCc.325G>T (p.Ala109Ser)
gnomAD v4
2g.25161560C=CA1239227790POMCc.325G= (p.Ala109=)
2g.25161560C>GCA346067302POMCc.325G>C (p.Ala109Pro)
dbSNP gnomAD v2 gnomAD v4
2g.25161560C>TCA43684782POMCc.325G>A (p.Ala109Thr)
dbSNP gnomAD v4
2g.25161561T>ACA425353550POMCc.324A>T (p.Ser108=)
2g.25161561T>CCA425353549POMCc.324A>G (p.Ser108=)
dbSNP gnomAD v3 gnomAD v4
2g.25161561T>GCA425353548POMCc.324A>C (p.Ser108=)
2g.25161561T=CA1239227792POMCc.324A= (p.Ser108=)
2g.25161562G>ACA43684786POMCc.323C>T (p.Ser108Leu)
dbSNP gnomAD v2 gnomAD v4
2g.25161562G>CCA346067303POMCc.323C>G (p.Ser108Ter)
gnomAD v4
2g.25161562G=CA1239227796POMCc.323C= (p.Ser108=)
2g.25161562G>TCA346067304POMCc.323C>A (p.Ser108Ter)
dbSNP gnomAD v4
2g.25161563A>CCA346067307POMCc.322T>G (p.Ser108Ala)
2g.25161563A>GCA346067306POMCc.322T>C (p.Ser108Pro)
2g.25161563A>TCA346067305POMCc.322T>A (p.Ser108Thr)
2g.25161564G>ACA425353555POMCc.321C>T (p.Val107=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161564G>CCA425353557POMCc.321C>G (p.Val107=)
dbSNP gnomAD v2 gnomAD v4
2g.25161564G=CA1239227800POMCc.321C= (p.Val107=)
2g.25161564G>TCA425353560POMCc.321C>A (p.Val107=)
2g.25161565A>CCA346067308POMCc.320T>G (p.Val107Gly)
2g.25161565A>GCA346067309POMCc.320T>C (p.Val107Ala)
gnomAD v4
2g.25161565A>TCA346067310POMCc.320T>A (p.Val107Asp)
2g.25161566C>ACA346067311POMCc.319G>T (p.Val107Phe)
gnomAD v4
2g.25161566C>GCA346067312POMCc.319G>C (p.Val107Leu)
2g.25161566C>TCA346067313POMCc.319G>A (p.Val107Ile)
gnomAD v4
2g.25161567G>ACA43684789POMCc.318C>T (p.Asp106=)
dbSNP gnomAD v3 gnomAD v4
2g.25161567G>CCA346067314POMCc.318C>G (p.Asp106Glu)
dbSNP gnomAD v4
2g.25161567G=CA1239227804POMCc.318C= (p.Asp106=)
2g.25161567G>TCA346067315POMCc.318C>A (p.Asp106Glu)
gnomAD v4
2g.25161568T>ACA346067316POMCc.317A>T (p.Asp106Val)
2g.25161568T>CCA346067317POMCc.317A>G (p.Asp106Gly)
2g.25161568T>GCA346067318POMCc.317A>C (p.Asp106Ala)
2g.25161568_25161572delCA2658163200POMCc.313_317del (p.Glu105ArgfsTer12)
gnomAD v4
2g.25161569C>ACA346067319POMCc.316G>T (p.Asp106Tyr)
2g.25161569C=CA1239227809POMCc.316G= (p.Asp106=)
2g.25161569C>GCA346067320POMCc.316G>C (p.Asp106His)
2g.25161569C>TCA1555320POMCc.316G>A (p.Asp106Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.25161570C>ACA346067321POMCc.315G>T (p.Glu105Asp)
gnomAD v4
2g.25161570C=CA1239227811POMCc.315G= (p.Glu105=)
2g.25161570C>GCA346067322POMCc.315G>C (p.Glu105Asp)
2g.25161570C>TCA425353571POMCc.315G>A (p.Glu105=)
dbSNP gnomAD v2 gnomAD v4
2g.25161571T>ACA346067323POMCc.314A>T (p.Glu105Val)
2g.25161571T>CCA1555321POMCc.314A>G (p.Glu105Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161571T>GCA346067324POMCc.314A>C (p.Glu105Ala)
2g.25161571T=CA1239227815POMCc.314A= (p.Glu105=)
2g.25161572C>ACA256767POMCc.313G>T (p.Glu105Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.25161572C=CA1239227835POMCc.313G= (p.Glu105=)
2g.25161572C>GCA346067325POMCc.313G>C (p.Glu105Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.25161572C>TCA43684814POMCc.313G>A (p.Glu105Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161573G>ACA43684818POMCc.312C>T (p.Arg104=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161573G>CCA425353578POMCc.312C>G (p.Arg104=)
gnomAD v4
2g.25161573G=CA1239227844POMCc.312C= (p.Arg104=)
2g.25161573G>TCA425353579POMCc.312C>A (p.Arg104=)
dbSNP gnomAD v2 gnomAD v4
2g.25161573_25161589delinsGCGCTTCTGCCCTGCGCCA1239227846POMCc.296_312delinsGCGCAGGGCAGAAGCGC (p.Gly99=)
2g.25161574C>ACA346067326POMCc.311G>T (p.Arg104Leu)
gnomAD v4
2g.25161574C=CA1239227851POMCc.311G= (p.Arg104=)
2g.25161574C>GCA346067327POMCc.311G>C (p.Arg104Pro)
2g.25161574C>TCA43684823POMCc.311G>A (p.Arg104His)
dbSNP gnomAD v2 gnomAD v4
2g.25161578_25161593delCA1239227850POMCc.296_311del (p.Gly99AlafsTer?)
dbSNP gnomAD v4
2g.25161574_25161635delCA2658163201POMCc.250_311del (p.Trp84ArgfsTer14)
gnomAD v4
2g.25161575G>ACA1555323POMCc.310C>T (p.Arg104Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161575G>CCA1555322POMCc.310C>G (p.Arg104Gly)
dbSNP ExAC gnomAD v4
2g.25161575G=CA1239227858POMCc.310C= (p.Arg104=)
2g.25161575G>TCA346067328POMCc.310C>A (p.Arg104Ser)
ClinVar gnomAD v4
2g.25161576C>ACA346067329POMCc.309G>T (p.Lys103Asn)
gnomAD v4
2g.25161576C>GCA346067330POMCc.309G>C (p.Lys103Asn)
2g.25161576C>TCA425353585POMCc.309G>A (p.Lys103=)
2g.25161577T>ACA346067331POMCc.308A>T (p.Lys103Met)
2g.25161577T>CCA346067332POMCc.308A>G (p.Lys103Arg)
2g.25161577T>GCA346067333POMCc.308A>C (p.Lys103Thr)
2g.25161578T>ACA346067334POMCc.307A>T (p.Lys103Ter)
2g.25161578T>CCA346067335POMCc.307A>G (p.Lys103Glu)
2g.25161578T>GCA346067336POMCc.307A>C (p.Lys103Gln)
dbSNP
2g.25161578T=CA1239227864POMCc.307A= (p.Lys103=)
2g.25161579C>ACA346067337POMCc.306G>T (p.Gln102His)
gnomAD v4
2g.25161579C=CA1239227870POMCc.306G= (p.Gln102=)
2g.25161579C>GCA346067338POMCc.306G>C (p.Gln102His)
2g.25161579C>TCA425353591POMCc.306G>A (p.Gln102=)
dbSNP gnomAD v3 gnomAD v4
2g.25161584_25161599dupCA767173506POMCc.291_306dup (p.Lys103GlnfsTer21)
dbSNP gnomAD v3 gnomAD v4
2g.25161580T>ACA346067339POMCc.305A>T (p.Gln102Leu)
gnomAD v4
2g.25161580T>CCA346067340POMCc.305A>G (p.Gln102Arg)
gnomAD v4
2g.25161580T>GCA346067341POMCc.305A>C (p.Gln102Pro)
dbSNP
2g.25161580T=CA1239227876POMCc.305A= (p.Gln102=)
2g.25161581G>ACA346067342POMCc.304C>T (p.Gln102Ter)
gnomAD v4
2g.25161581G>CCA346067343POMCc.304C>G (p.Gln102Glu)
dbSNP gnomAD v2 gnomAD v4
2g.25161581G=CA1239227883POMCc.304C= (p.Gln102=)
2g.25161581G>TCA346067344POMCc.304C>A (p.Gln102Lys)
gnomAD v4
2g.25161581_25161582delinsGCCA1239227881POMCc.303_304delinsGC (p.Gly101=)
2g.25161582C>ACA425353596POMCc.303G>T (p.Gly101=)
2g.25161582C=CA1239227887POMCc.303G= (p.Gly101=)
2g.25161582C>GCA425353595POMCc.303G>C (p.Gly101=)
2g.25161582C>TCA425353594POMCc.303G>A (p.Gly101=)
dbSNP gnomAD v4
2g.25161584delCA531760852POMCc.303del (p.Gln102ArgfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161583C>ACA346067346POMCc.302G>T (p.Gly101Val)
gnomAD v4
2g.25161583C>GCA346067347POMCc.302G>C (p.Gly101Ala)
2g.25161583C>TCA346067345POMCc.302G>A (p.Gly101Glu)
gnomAD v4
2g.25161583_25161584insGTGCGCCGCA2749203940POMCc.301_302insCGGCGCAC (p.Gly101AlafsTer?)
2g.25161584C>ACA346067349POMCc.301G>T (p.Gly101Trp)
gnomAD v4
2g.25161584C>GCA346067348POMCc.301G>C (p.Gly101Arg)
gnomAD v4
2g.25161584C>TCA346067350POMCc.301G>A (p.Gly101Arg)
gnomAD v4
2g.25161585T>ACA425353602POMCc.300A>T (p.Ala100=)
2g.25161585T>CCA425353603POMCc.300A>G (p.Ala100=)
gnomAD v4
2g.25161585T>GCA425353604POMCc.300A>C (p.Ala100=)
2g.25161585T=CA1239227891POMCc.300A= (p.Ala100=)
2g.25161585_25161586insTCCA531760853POMCc.299_300insGA (p.Gly101LysfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161586G>ACA346067351POMCc.299C>T (p.Ala100Val)
2g.25161586G>CCA1555324POMCc.299C>G (p.Ala100Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161586G=CA1239227897POMCc.299C= (p.Ala100=)
2g.25161586G>TCA43684842POMCc.299C>A (p.Ala100Glu)
dbSNP gnomAD v4
2g.25161586_25161587insGCCGCTGCTCA645515100POMCc.298_299insAGCAGCGGC (p.Ala100delinsGluGlnArgPro)
COSMIC
2g.25161587C>ACA346067352POMCc.298G>T (p.Ala100Ser)
dbSNP gnomAD v4
2g.25161587C=CA1239227908POMCc.298G= (p.Ala100=)
2g.25161587C>GCA346067353POMCc.298G>C (p.Ala100Pro)
2g.25161587C>TCA1555328POMCc.298G>A (p.Ala100Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161587_25161596delinsCGCCGCTGCTCA1239227917POMCc.289_298delinsAGCAGCGGCG (p.Ser97=)
2g.25161587_25161588insTCA43684874POMCc.297_298insA (p.Ala100SerfsTer19)
ClinVar dbSNP
2g.25161587_25161588insCGCTGCTCA1028505401POMCc.297_298insAGCAGCG (p.Ala100SerfsTer21)
dbSNP gnomAD v3 gnomAD v4
2g.25161587_25161588insACCGCTGCTCA2576693514POMCc.297_298insAGCAGCGGT (p.Gly99_Ala100insSerSerGly)
2g.25161588G>ACA425353615POMCc.297C>T (p.Gly99=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161588G>CCA425353614POMCc.297C>G (p.Gly99=)
dbSNP
2g.25161588G=CA1239227957POMCc.297C= (p.Gly99=)
2g.25161588G>TCA1555329POMCc.297C>A (p.Gly99=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161588_25161589delinsGCCA1239227965POMCc.296_297delinsGC (p.Gly99=)
2g.25161590_25161591insACTGCTGCCCA1239227959POMCc.297_298insAGCAGTGGC (p.Gly99_Ala100insSerSerGly)
dbSNP
2g.25161596_25161597insTCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTCA2658163202POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGAAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGly)
gnomAD v4
2g.25161598_25161599insTGCCGCTGCTGCCA2594344357POMCc.297_298insAGCAGCAGCGGC (p.Gly99_Ala100insSerSerSerGly)
gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCA531760854POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCA1555327POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCA1028505387POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
dbSNP gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCA1028505394POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
dbSNP gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCA531760857POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCA531760856POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGATGCCGCTGCTGCCGCTGCTGCCA2749203941POMCc.297_298insATCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insIleSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCA531760855POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCA1028505393POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCA1028505392POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
dbSNP gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCA1028505391POMCc.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)
dbSNP gnomAD v3 gnomAD v4
2g.25161599_25161607dupCA208377POMCc.289_297dup (p.Gly99_Ala100insSerSerGly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.25161590_25161607dupCA1555326POMCc.280_297dup (p.Gly99_Ala100insSerSerGlySerSerGly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161599_25161607delCA1555325POMCc.289_297del (p.Ser97_Gly99del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161588_25161589insGCCGCTGCTCA645515101POMCc.296_297insAGCAGCGGC (p.Gly99_Ala100insAlaAlaAla)
COSMIC
2g.25161589C>ACA346067355POMCc.296G>T (p.Gly99Val)
dbSNP gnomAD v2 gnomAD v4
2g.25161589C=CA1239228003POMCc.296G= (p.Gly99=)
2g.25161589C>GCA346067354POMCc.296G>C (p.Gly99Ala)
2g.25161589C>TCA346067356POMCc.296G>A (p.Gly99Asp)
dbSNP
2g.25161590delCA531760858POMCc.296del (p.Gly99AlafsTer?)
dbSNP gnomAD v2 gnomAD v4
2g.25161596_25161597insACCGCTGCTCA1239228001POMCc.296_297insTAGCAGCGG (p.Gly99_Ala100insSerSerGly)
dbSNP gnomAD v4
2g.25161590C>ACA346067357POMCc.295G>T (p.Gly99Cys)
2g.25161590C=CA1239228005POMCc.295G= (p.Gly99=)
2g.25161590C>GCA346067359POMCc.295G>C (p.Gly99Arg)
2g.25161590C>TCA346067358POMCc.295G>A (p.Gly99Ser)
gnomAD v4
2g.25161597_25161598insTCGCTGCTGCA2699004435POMCc.295_296insACAGCAGCG (p.Ser98_Gly99insAspSerSer)
dbSNP
2g.25161591G>ACA43684888POMCc.294C>T (p.Ser98=)
dbSNP gnomAD v4
2g.25161591G>CCA346067360POMCc.294C>G (p.Ser98Arg)
2g.25161591G=CA1239228011POMCc.294C= (p.Ser98=)
2g.25161591G>TCA346067361POMCc.294C>A (p.Ser98Arg)
gnomAD v4
2g.25161598_25161599insAGCTGCTGCCA1239228010POMCc.294_295insTGCAGCAGC (p.Ser98_Gly99insCysSerSer)
dbSNP
2g.25161598_25161599insTGCTGCTGCCA2698825094POMCc.294_295insAGCAGCAGC (p.Ser98_Gly99insSerSerSer)
dbSNP
2g.25161593_25161598dupCA2576693515POMCc.289_294dup (p.Ser98_Gly99insSerSer)
2g.25161596_25161598delCA2576693516POMCc.292_294del (p.Ser98del)
gnomAD v4
2g.25161599_25161610dupCA2658163203POMCc.283_294dup (p.Ser98_Gly99insSerGlySerSer)
gnomAD v4
2g.25161599_25161610delCA2576693517POMCc.283_294del (p.Ser95_Ser98del)
2g.25161592C>ACA346067362POMCc.293G>T (p.Ser98Ile)
2g.25161592C>GCA346067364POMCc.293G>C (p.Ser98Thr)
gnomAD v4
2g.25161592C>TCA346067363POMCc.293G>A (p.Ser98Asn)
gnomAD v4
2g.25161592_25161593insCGCTGCCTCCA891862731POMCc.293_294insAGGCAGCGG (p.Ser98delinsArgGlySerGly)
ClinVar dbSNP
2g.25161593T>ACA346067365POMCc.292A>T (p.Ser98Cys)
2g.25161593T>CCA346067366POMCc.292A>G (p.Ser98Gly)
dbSNP
2g.25161593T>GCA346067367POMCc.292A>C (p.Ser98Arg)
dbSNP gnomAD v2 gnomAD v4
2g.25161593T=CA1239228024POMCc.292A= (p.Ser98=)
2g.25161593_25161599delinsTGCTGCCCA1239228026POMCc.286_292delinsGGCAGCA (p.Gly96=)
2g.25161594G>ACA1555330POMCc.291C>T (p.Ser97=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161594G>CCA346067368POMCc.291C>G (p.Ser97Arg)
2g.25161594G=CA1239228037POMCc.291C= (p.Ser97=)
2g.25161594G>TCA346067369POMCc.291C>A (p.Ser97Arg)
gnomAD v4
2g.25161599_25161604dupCA1239228035POMCc.286_291dup (p.Ser97_Ser98insGlySer)
dbSNP gnomAD v4
2g.25161599_25161604delCA1239228034POMCc.286_291del (p.Gly96_Ser97del)
dbSNP
2g.25161607_25161608insCGCTGCCGCTGCTGCCA1239228036POMCc.291_292insGGCAGCAGCGGCAGC (p.Ser97_Ser98insGlySerSerGlySer)
dbSNP
2g.25161595C>ACA346067370POMCc.290G>T (p.Ser97Ile)
gnomAD v4
2g.25161595C=CA1239228042POMCc.290G= (p.Ser97=)
2g.25161595C>GCA346067371POMCc.290G>C (p.Ser97Thr)
gnomAD v4
2g.25161595C>TCA1555331POMCc.290G>A (p.Ser97Asn)
dbSNP ExAC gnomAD v4
2g.25161596T>ACA346067372POMCc.289A>T (p.Ser97Cys)
2g.25161596T>CCA346067373POMCc.289A>G (p.Ser97Gly)
dbSNP
2g.25161596T>GCA1555332POMCc.289A>C (p.Ser97Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.25161596T=CA1239228048POMCc.289A= (p.Ser97=)
2g.25161603_25161604insTTGCCGCTGCA2699004454POMCc.289_290insACAGCGGCA (p.Gly96_Ser97insAsnSerGly)
dbSNP
2g.25161607_25161608insCGCTGCTGCTGCTGTTGCCGCTGCTGCCA2658163204POMCc.289_290insACAGCAGCAGCAGCGGCAGCAGCGGCA (p.Gly96_Ser97insAsnSerSerSerSerGlySerSerGly)
gnomAD v4
2g.25161599_25161616dupCA1239228046POMCc.272_289dup (p.Gly96_Ser97insAsnSerSerSerSerGly)
dbSNP
2g.25161597G>ACA425353625POMCc.288C>T (p.Gly96=)
gnomAD v4
2g.25161597G>CCA425353623POMCc.288C>G (p.Gly96=)
2g.25161597G>TCA425353624POMCc.288C>A (p.Gly96=)
2g.25161598C>ACA346067376POMCc.287G>T (p.Gly96Val)
2g.25161598C=CA1239228056POMCc.287G= (p.Gly96=)
2g.25161598C>GCA346067374POMCc.287G>C (p.Gly96Ala)
2g.25161598C>TCA346067375POMCc.287G>A (p.Gly96Asp)
gnomAD v4
2g.25161599C>ACA1555334POMCc.286G>T (p.Gly96Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161599C=CA1239228063POMCc.286G= (p.Gly96=)
2g.25161599C>GCA346067377POMCc.286G>C (p.Gly96Arg)
gnomAD v4
2g.25161599C>TCA1555335POMCc.286G>A (p.Gly96Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161599_25161602delinsCGCTCA1239228067POMCc.283_286delinsAGCG (p.Ser95=)
2g.25161599_25161613dupCA531760864POMCc.272_286dup (p.Ser95_Gly96insAspSerSerSerSer)
dbSNP gnomAD v2 gnomAD v4
2g.25161600G>ACA43684909POMCc.285C>T (p.Ser95=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161600G>CCA346067378POMCc.285C>G (p.Ser95Arg)
gnomAD v4
2g.25161600G=CA1239228086POMCc.285C= (p.Ser95=)
2g.25161600G>TCA346067379POMCc.285C>A (p.Ser95Arg)
gnomAD v4
2g.25161607_25161608insCGCTGCTGCTGCTGCCA2658163206POMCc.285_286insAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerSerGlySerSer)
gnomAD v4
2g.25161607_25161608insCGCTGCTGCTGCTGCTGCCA531760866POMCc.285_286insAGCAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerSerSerGlySerSer)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCTGCCA1239228087POMCc.285_286insAGCGGCAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerGlySerSerGlySerSer)
dbSNP
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCTGCTGCTGCCA916493926POMCc.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer)
dbSNP gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCTGCTGCTGCCA531760867POMCc.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerSerSerGlySerSerGlySerSerGlySerSer)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25161607_25161608insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCTGCTGCTGCCA1028505423POMCc.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSer)
gnomAD v3 gnomAD v4
2g.25161610_25161612dupCA767173635POMCc.283_285dup (p.Ser95_Gly96insSer)
dbSNP gnomAD v3 gnomAD v4
2g.25161607_25161612dupCA2658163207POMCc.280_285dup (p.Ser95_Gly96insSerSer)
gnomAD v4
2g.25161604_25161612dupCA1555333POMCc.277_285dup (p.Ser95_Gly96insSerSerSer)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161610_25161612delCA346067380POMCc.283_285del (p.Ser95del)
dbSNP gnomAD v2 gnomAD v4
2g.25161604_25161612delCA2658163205POMCc.277_285del (p.Ser93_Ser95del)
gnomAD v4
2g.25161602_25161619dupCA531760865POMCc.268_285dup (p.Ser95_Gly96insArgAsnSerSerSerSer)
dbSNP gnomAD v2 gnomAD v4
2g.25161601C>ACA346067381POMCc.284G>T (p.Ser95Ile)
gnomAD v4
2g.25161601C=CA1239228099POMCc.284G= (p.Ser95=)
2g.25161601C>GCA346067382POMCc.284G>C (p.Ser95Thr)
2g.25161601C>TCA1555336POMCc.284G>A (p.Ser95Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25161601_25161602delinsGGCA2580066133POMCc.283_284delinsCC (p.Ser95Pro)
ClinVar
2g.25161602_25161603insACTCA2658163208POMCc.284_285insTAG (p.Ser95_Gly96insSer)
gnomAD v4

Number of alleles fetched