Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.3590157C>A | CA504968054 | GIPC3 | c.906C>A (p.Ala302=) c.919C>A (p.Arg307Ser) | gnomAD v4 |
19 | g.3590157C= | CA2318943037 | GIPC3 | c.906C= (p.Ala302=) c.919C= (p.Arg307=) | |
19 | g.3590157C>G | CA504968055 | GIPC3 | c.906C>G (p.Ala302=) c.919C>G (p.Arg307Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590157C>T | CA9080628 | GIPC3 | c.906C>T (p.Ala302=) c.919C>T (p.Arg307Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590158G>A | CA9080629 | GIPC3 | c.907G>A (p.Ala303Thr) c.920G>A (p.Arg307His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.3590158G>C | CA403365601 | GIPC3 | c.907G>C (p.Ala303Pro) c.920G>C (p.Arg307Pro) | |
19 | g.3590158G= | CA2318943038 | GIPC3 | c.907G= (p.Ala303=) c.920G= (p.Arg307=) | |
19 | g.3590158G>T | CA403365603 | GIPC3 | c.907G>T (p.Ala303Ser) c.920G>T (p.Arg307Leu) | |
19 | g.3590159C>A | CA403365607 | GIPC3 | c.908C>A (p.Ala303Asp) c.921C>A (p.Arg307=) | |
19 | g.3590159C= | CA2318943039 | GIPC3 | c.908C= (p.Ala303=) c.921C= (p.Arg307=) | |
19 | g.3590159C>G | CA403365624 | GIPC3 | c.908C>G (p.Ala303Gly) c.921C>G (p.Arg307=) | |
19 | g.3590159C>T | CA9080630 | GIPC3 | c.908C>T (p.Ala303Val) c.921C>T (p.Arg307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590160C>A | CA504968056 | GIPC3 | c.909C>A (p.Ala303=) c.922C>A (p.His308Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590160C= | CA2318943040 | GIPC3 | c.909C= (p.Ala303=) c.922C= (p.His308=) | |
19 | g.3590160C>G | CA504968057 | GIPC3 | c.909C>G (p.Ala303=) c.922C>G (p.His308Asp) | |
19 | g.3590160C>T | CA504968058 | GIPC3 | c.909C>T (p.Ala303=) c.922C>T (p.His308Tyr) | |
19 | g.3590161A>C | CA403365628 | GIPC3 | c.910A>C (p.Ile304Leu) c.923A>C (p.His308Pro) | |
19 | g.3590161A>G | CA403365629 | GIPC3 | c.910A>G (p.Ile304Val) c.923A>G (p.His308Arg) | gnomAD v4 |
19 | g.3590161A>T | CA403365630 | GIPC3 | c.910A>T (p.Ile304Phe) c.923A>T (p.His308Leu) | |
19 | g.3590162T>A | CA403365631 | GIPC3 | c.911T>A (p.Ile304Asn) c.924T>A (p.His308Gln) | gnomAD v4 |
19 | g.3590162T>C | CA403365632 | GIPC3 | c.911T>C (p.Ile304Thr) c.924T>C (p.His308=) | |
19 | g.3590162T>G | CA403365633 | GIPC3 | c.911T>G (p.Ile304Ser) c.924T>G (p.His308Gln) | |
19 | g.3590163C>A | CA504968059 | GIPC3 | c.912C>A (p.Ile304=) c.925C>A (p.Arg309=) | gnomAD v4 COSMIC |
19 | g.3590163C= | CA2318943041 | GIPC3 | c.912C= (p.Ile304=) c.925C= (p.Arg309=) | |
19 | g.3590163C>G | CA9080632 | GIPC3 | c.912C>G (p.Ile304Met) c.925C>G (p.Arg309Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3590163C>T | CA9080631 | GIPC3 | c.912C>T (p.Ile304=) c.925C>T (p.Arg309Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590164G>A | CA9080633 | GIPC3 | c.913G>A (p.Gly305Ser) c.926G>A (p.Arg309Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590164G>C | CA403365647 | GIPC3 | c.913G>C (p.Gly305Arg) c.926G>C (p.Arg309Pro) | dbSNP |
19 | g.3590164G= | CA2318943042 | GIPC3 | c.913G= (p.Gly305=) c.926G= (p.Arg309=) | |
19 | g.3590164G>T | CA403365649 | GIPC3 | c.913G>T (p.Gly305Cys) c.926G>T (p.Arg309Leu) | gnomAD v4 |
19 | g.3590165G>A | CA403365654 | GIPC3 | c.914G>A (p.Gly305Asp) c.927G>A (p.Arg309=) | ClinVar gnomAD v4 |
19 | g.3590165G>C | CA403365663 | GIPC3 | c.914G>C (p.Gly305Ala) c.927G>C (p.Arg309=) | |
19 | g.3590165G>T | CA403365672 | GIPC3 | c.914G>T (p.Gly305Val) c.927G>T (p.Arg309=) | gnomAD v4 |
19 | g.3590166C>A | CA504968060 | GIPC3 | c.915C>A (p.Gly305=) c.928C>A (p.Arg310=) | gnomAD v4 |
19 | g.3590166C= | CA2318943043 | GIPC3 | c.915C= (p.Gly305=) c.928C= (p.Arg310=) | |
19 | g.3590166C>G | CA504968061 | GIPC3 | c.915C>G (p.Gly305=) c.928C>G (p.Arg310Gly) | gnomAD v4 |
19 | g.3590166C>T | CA9080634 | GIPC3 | c.915C>T (p.Gly305=) c.928C>T (p.Arg310Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590167G>A | CA9080635 | GIPC3 | c.916G>A (p.Glu306Lys) c.929G>A (p.Arg310Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590167G>C | CA9080636 | GIPC3 | c.916G>C (p.Glu306Gln) c.929G>C (p.Arg310Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3590167G= | CA2318943044 | GIPC3 | c.916G= (p.Glu306=) c.929G= (p.Arg310=) | |
19 | g.3590167G>T | CA403365674 | GIPC3 | c.916G>T (p.Glu306Ter) c.929G>T (p.Arg310Leu) | |
19 | g.3590167_3590170del | CA2584490025 | GIPC3 | c.916_919del (p.Glu306ProfsTer?) c.929_932del (p.Arg310ProfsTer7) | gnomAD v4 |
19 | g.3590168A>C | CA403365678 | GIPC3 | c.917A>C (p.Glu306Ala) c.930A>C (p.Arg310=) | |
19 | g.3590168A>G | CA403365680 | GIPC3 | c.917A>G (p.Glu306Gly) c.930A>G (p.Arg310=) | |
19 | g.3590168A>T | CA403365682 | GIPC3 | c.917A>T (p.Glu306Val) c.930A>T (p.Arg310=) | |
19 | g.3590169G>A | CA504968062 | GIPC3 | c.918G>A (p.Glu306=) c.931G>A (p.Gly311Ser) | |
19 | g.3590169G>C | CA403365685 | GIPC3 | c.918G>C (p.Glu306Asp) c.931G>C (p.Gly311Arg) | |
19 | g.3590169G>T | CA403365684 | GIPC3 | c.918G>T (p.Glu306Asp) c.931G>T (p.Gly311Cys) | gnomAD v4 |
19 | g.3590170G>A | CA403365687 | GIPC3 | c.919G>A (p.Ala307Thr) c.932G>A (p.Gly311Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590170G>C | CA403365690 | GIPC3 | c.919G>C (p.Ala307Pro) c.932G>C (p.Gly311Ala) | |
19 | g.3590170G= | CA2318943045 | GIPC3 | c.919G= (p.Ala307=) c.932G= (p.Gly311=) | |
19 | g.3590170G>T | CA403365691 | GIPC3 | c.919G>T (p.Ala307Ser) c.932G>T (p.Gly311Val) | gnomAD v4 COSMIC |
19 | g.3590171C>A | CA403365693 | GIPC3 | c.920C>A (p.Ala307Asp) c.933C>A (p.Gly311=) | dbSNP |
19 | g.3590171C= | CA2318943046 | GIPC3 | c.920C= (p.Ala307=) c.933C= (p.Gly311=) | |
19 | g.3590171C>G | CA403365696 | GIPC3 | c.920C>G (p.Ala307Gly) c.933C>G (p.Gly311=) | |
19 | g.3590171C>T | CA403365698 | GIPC3 | c.920C>T (p.Ala307Val) c.933C>T (p.Gly311=) | ClinVar dbSNP gnomAD v4 |
19 | g.3590172C>A | CA504968063 | GIPC3 | c.921C>A (p.Ala307=) c.934C>A (p.Gln312Lys) | |
19 | g.3590172C>G | CA504968064 | GIPC3 | c.921C>G (p.Ala307=) c.934C>G (p.Gln312Glu) | |
19 | g.3590172C>T | CA504968065 | GIPC3 | c.921C>T (p.Ala307=) c.934C>T (p.Gln312Ter) | gnomAD v4 |
19 | g.3590173A>C | CA504968066 | GIPC3 | c.922A>C (p.Arg308=) c.935A>C (p.Gln312Pro) | |
19 | g.3590173A>G | CA403365700 | GIPC3 | c.922A>G (p.Arg308Gly) c.935A>G (p.Gln312Arg) | |
19 | g.3590173A>T | CA403365701 | GIPC3 | c.922A>T (p.Arg308Ter) c.935A>T (p.Gln312Leu) | gnomAD v4 |
19 | g.3590174G>A | CA403365704 | GIPC3 | c.923G>A (p.Arg308Lys) c.936G>A (p.Gln312=) | gnomAD v4 |
19 | g.3590174G>C | CA403365707 | GIPC3 | c.923G>C (p.Arg308Thr) c.936G>C (p.Gln312His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.3590174G= | CA2318943047 | GIPC3 | c.923G= (p.Arg308=) c.936G= (p.Gln312=) | |
19 | g.3590174G>T | CA403365709 | GIPC3 | c.923G>T (p.Arg308Ile) c.936G>T (p.Gln312His) | |
19 | g.3590175_3590183del | CA2584490026 | GIPC3 | c.924_932del (p.Arg308_Cys311delinsSer) c.937_945del (p.Arg313_Leu315del) | gnomAD v4 |
19 | g.3590175A>C | CA403365712 | GIPC3 | c.924A>C (p.Arg308Ser) c.937A>C (p.Arg313=) | |
19 | g.3590175A>G | CA504968067 | GIPC3 | c.924A>G (p.Arg308=) c.937A>G (p.Arg313Gly) | gnomAD v4 |
19 | g.3590175A>T | CA403365719 | GIPC3 | c.924A>T (p.Arg308Ser) c.937A>T (p.Arg313Ter) | |
19 | g.3590176G>A | CA403365724 | GIPC3 | c.925G>A (p.Glu309Lys) c.938G>A (p.Arg313Lys) | |
19 | g.3590176G>C | CA403365726 | GIPC3 | c.925G>C (p.Glu309Gln) c.938G>C (p.Arg313Thr) | |
19 | g.3590176G= | CA2318943048 | GIPC3 | c.925G= (p.Glu309=) c.938G= (p.Arg313=) | |
19 | g.3590176G>T | CA403365721 | GIPC3 | c.925G>T (p.Glu309Ter) c.938G>T (p.Arg313Ile) | gnomAD v4 |
19 | g.3590177A= | CA2318943049 | GIPC3 | c.926A= (p.Glu309=) c.939A= (p.Arg313=) | |
19 | g.3590177A>C | CA403365728 | GIPC3 | c.926A>C (p.Glu309Ala) c.939A>C (p.Arg313Ser) | |
19 | g.3590177A>G | CA403365727 | GIPC3 | c.926A>G (p.Glu309Gly) c.939A>G (p.Arg313=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590177A>T | CA403365729 | GIPC3 | c.926A>T (p.Glu309Val) c.939A>T (p.Arg313Ser) | |
19 | g.3590177dup | CA631712344 | GIPC3 | c.926dup (p.Ala310GlyfsTer?) c.939dup (p.Gly314ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590178G>A | CA504968068 | GIPC3 | c.927G>A (p.Glu309=) c.940G>A (p.Gly314Ser) | gnomAD v4 |
19 | g.3590178G>C | CA403365731 | GIPC3 | c.927G>C (p.Glu309Asp) c.940G>C (p.Gly314Arg) | |
19 | g.3590178G>T | CA403365740 | GIPC3 | c.927G>T (p.Glu309Asp) c.940G>T (p.Gly314Cys) | gnomAD v4 |
19 | g.3590179G>A | CA9080637 | GIPC3 | c.928G>A (p.Ala310Thr) c.941G>A (p.Gly314Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590179G>C | CA403365744 | GIPC3 | c.928G>C (p.Ala310Pro) c.941G>C (p.Gly314Ala) | |
19 | g.3590179G= | CA2318943050 | GIPC3 | c.928G= (p.Ala310=) c.941G= (p.Gly314=) | |
19 | g.3590179G>T | CA403365745 | GIPC3 | c.928G>T (p.Ala310Ser) c.941G>T (p.Gly314Val) | gnomAD v4 |
19 | g.3590180C>A | CA9080638 | GIPC3 | c.929C>A (p.Ala310Asp) c.942C>A (p.Gly314=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3590180C= | CA2318943052 | GIPC3 | c.929C= (p.Ala310=) c.942C= (p.Gly314=) | |
19 | g.3590180C>G | CA403365746 | GIPC3 | c.929C>G (p.Ala310Gly) c.942C>G (p.Gly314=) | |
19 | g.3590180C>T | CA403365747 | GIPC3 | c.929C>T (p.Ala310Val) c.942C>T (p.Gly314=) | |
19 | g.3590184_3590199dup | CA2318943051 | GIPC3 | c.933_*9dup (n.933_*9dup) c.946_961dup (p.Gly321ValfsTer?) | dbSNP gnomAD v4 |
19 | g.3590181C>A | CA504968069 | GIPC3 | c.930C>A (p.Ala310=) c.943C>A (p.Leu315Met) | |
19 | g.3590181C>G | CA504968071 | GIPC3 | c.930C>G (p.Ala310=) c.943C>G (p.Leu315Val) | gnomAD v4 |
19 | g.3590181C>T | CA504968070 | GIPC3 | c.930C>T (p.Ala310=) c.943C>T (p.Leu315=) | gnomAD v4 |
19 | g.3590182T>A | CA403365750 | GIPC3 | c.931T>A (p.Cys311Ser) c.944T>A (p.Leu315Gln) | dbSNP |
19 | g.3590182T>C | CA403365751 | GIPC3 | c.931T>C (p.Cys311Arg) c.944T>C (p.Leu315Pro) | gnomAD v4 |
19 | g.3590182T>G | CA403365753 | GIPC3 | c.931T>G (p.Cys311Gly) c.944T>G (p.Leu315Arg) | |
19 | g.3590183G>A | CA403365759 | GIPC3 | c.932G>A (p.Cys311Tyr) c.945G>A (p.Leu315=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590183G>C | CA403365764 | GIPC3 | c.932G>C (p.Cys311Ser) c.945G>C (p.Leu315=) | |
19 | g.3590183G= | CA2318943053 | GIPC3 | c.932G= (p.Cys311=) c.945G= (p.Leu315=) | |
19 | g.3590183G>T | CA403365767 | GIPC3 | c.932G>T (p.Cys311Phe) c.945G>T (p.Leu315=) | |
19 | g.3590184T>A | CA403365770 | GIPC3 | c.933T>A (p.Cys311Ter) c.946T>A (p.Trp316Arg) | |
19 | g.3590184T>C | CA504968072 | GIPC3 | c.933T>C (p.Cys311=) c.946T>C (p.Trp316Arg) | gnomAD v4 |
19 | g.3590184T>G | CA403365771 | GIPC3 | c.933T>G (p.Cys311Trp) c.946T>G (p.Trp316Gly) | |
19 | g.3590185G>A | CA9080639 | GIPC3 | c.934G>A (p.Gly312Ser) c.947G>A (p.Trp316Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590185G>C | CA403365779 | GIPC3 | c.934G>C (p.Gly312Arg) c.947G>C (p.Trp316Ser) | gnomAD v4 |
19 | g.3590185G= | CA2318943054 | GIPC3 | c.934G= (p.Gly312=) c.947G= (p.Trp316=) | |
19 | g.3590185G>T | CA403365781 | GIPC3 | c.934G>T (p.Gly312Cys) c.947G>T (p.Trp316Leu) | gnomAD v4 |
19 | g.3590186G>A | CA403365784 | GIPC3 | c.935G>A (p.Gly312Asp) c.948G>A (p.Trp316Ter) | |
19 | g.3590186G>C | CA403365787 | GIPC3 | c.935G>C (p.Gly312Ala) c.948G>C (p.Trp316Cys) | |
19 | g.3590186G= | CA2318943055 | GIPC3 | c.935G= (p.Gly312=) c.948G= (p.Trp316=) | |
19 | g.3590186G>T | CA403365811 | GIPC3 | c.935G>T (p.Gly312Val) c.948G>T (p.Trp316Cys) | dbSNP gnomAD v2 |
19 | g.3590187C>A | CA504968073 | GIPC3 | c.936C>A (p.Gly312=) c.949C>A (p.Leu317Ile) | |
19 | g.3590187C>G | CA504968074 | GIPC3 | c.936C>G (p.Gly312=) c.949C>G (p.Leu317Val) | |
19 | g.3590187C>T | CA504968075 | GIPC3 | c.936C>T (p.Gly312=) c.949C>T (p.Leu317=) | gnomAD v4 |
19 | g.3590188T>A | CA403365816 | GIPC3 | c.937T>A (p.Ter313Lys) c.950T>A (p.Leu317Gln) | |
19 | g.3590188T>C | CA403365819 | GIPC3 | c.937T>C (p.Ter313Gln) c.950T>C (p.Leu317Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590188T>G | CA403365820 | GIPC3 | c.937T>G (p.Ter313Glu) c.950T>G (p.Leu317Arg) | |
19 | g.3590188T= | CA2318943056 | GIPC3 | c.937T= (p.Ter313=) c.950T= (p.Leu317=) | |
19 | g.3590189A= | CA2318943057 | GIPC3 | c.938A= (p.Ter313=) c.951A= (p.Leu317=) | |
19 | g.3590189A>C | CA403365821 | GIPC3 | c.938A>C (p.Ter313Ser) c.951A>C (p.Leu317=) | |
19 | g.3590189A>G | CA403365822 | GIPC3 | c.938A>G (p.Ter313Trp) c.951A>G (p.Leu317=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3590189A>T | CA403365823 | GIPC3 | c.938A>T (p.Ter313Leu) c.951A>T (p.Leu317=) | |
19 | g.3590189dup | CA504968076 | GIPC3 | c.938dup (p.Ter313=) c.951dup (p.Val318SerfsTer?) | |
19 | g.3590190G>A | CA504968077 | GIPC3 | c.939G>A (p.Ter313=) c.952G>A (p.Val318Ile) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590190G>C | CA403365824 | GIPC3 | c.939G>C (p.Ter313Tyr) c.952G>C (p.Val318Leu) | ClinVar dbSNP |
19 | g.3590190G= | CA2318943059 | GIPC3 | c.939G= (p.Ter313=) c.952G= (p.Val318=) | |
19 | g.3590190G>T | CA403365826 | GIPC3 | c.939G>T (p.Ter313Tyr) c.952G>T (p.Val318Phe) | |
19 | g.3590190_3590191delinsGT | CA2318943058 | GIPC3 | c.939_*1delinsGT (n.[c.939_*1delinsGT;Ter313=]) c.952_953delinsGT (p.Val318=) | |
19 | g.3590191T>C | CA2584490027 | GIPC3 | c.*1T>C (n.*1T>C) c.953T>C (p.Val318Ala) | gnomAD v4 |
19 | g.3590193dup | CA2318943060 | GIPC3 | c.*3dup (n.*3dup) c.955dup (p.Cys319LeufsTer?) | dbSNP |
19 | g.3590193del | CA304417852 | GIPC3 | c.*3del (n.*3del) c.955del (p.Cys319AlafsTer?) | dbSNP |
19 | g.3590192T>C | CA2584490028 | GIPC3 | c.*2T>C (n.*2T>C) c.954T>C (p.Val318=) | gnomAD v4 |
19 | g.3590193T= | CA2318943061 | GIPC3 | c.*3T= (n.*3T=) c.955T= (p.Cys319=) | |
19 | g.3590196_3590252del | CA2813336907 | GIPC3 | c.*6_*62del (n.*6_*62del) c.958_1014del (p.Pro320_Cys338del) | |
19 | g.3590194G>C | CA2318943062 | GIPC3 | c.*4G>C (n.*4G>C) c.956G>C (p.Cys319Ser) | dbSNP |
19 | g.3590194G= | CA2318943063 | GIPC3 | c.*4G= (n.*4G=) c.956G= (p.Cys319=) | |
19 | g.3590194G>T | CA2576567611 | GIPC3 | c.*4G>T (n.*4G>T) c.956G>T (p.Cys319Phe) | |
19 | g.3590194dup | CA992741074 | GIPC3 | c.*4dup (n.*4dup) c.956dup (p.Cys319TrpfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3590195C>T | CA2584490029 | GIPC3 | c.*5C>T (n.*5C>T) c.957C>T (p.Cys319=) | gnomAD v4 |
19 | g.3590196C= | CA2318943064 | GIPC3 | c.*6C= (n.*6C=) c.958C= (p.Pro320=) | |
19 | g.3590196C>G | CA2318943065 | GIPC3 | c.*6C>G (n.*6C>G) c.958C>G (p.Pro320Ala) | dbSNP gnomAD v4 |
19 | g.3590196C>T | CA2584490030 | GIPC3 | c.*6C>T (n.*6C>T) c.958C>T (p.Pro320Ser) | gnomAD v4 |
19 | g.3590197C>A | CA2584490031 | GIPC3 | c.*7C>A (n.*7C>A) c.959C>A (p.Pro320His) | gnomAD v4 |
19 | g.3590197C>T | CA2584490032 | GIPC3 | c.*7C>T (n.*7C>T) c.959C>T (p.Pro320Leu) | gnomAD v4 |
19 | g.3590198T>C | CA631712308 | GIPC3 | c.*8T>C (n.*8T>C) c.960T>C (p.Pro320=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.3590198T= | CA2318943067 | GIPC3 | c.*8T= (n.*8T=) c.960T= (p.Pro320=) | |
19 | g.3590198_3590199delinsTG | CA2318943066 | GIPC3 | c.*8_*9delinsTG (n.*8_*9delinsTG) c.960_961delinsTG (p.Pro320=) | |
19 | g.3590199G>C | CA2584490033 | GIPC3 | c.*9G>C (n.*9G>C) c.961G>C (p.Gly321Arg) | gnomAD v4 |
19 | g.3590199G>T | CA2584490034 | GIPC3 | c.*9G>T (n.*9G>T) c.961G>T (p.Gly321Trp) | gnomAD v4 |
19 | g.3590205dup | CA9080641 | GIPC3 | c.*15dup (n.*15dup) c.967dup (p.Ala323GlyfsTer30) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590204_3590205dup | CA2813336909 | GIPC3 | c.*14_*15dup (n.*14_*15dup) c.966_967dup (p.Ala323GlyfsTer?) | |
19 | g.3590205del | CA9080640 | GIPC3 | c.*15del (n.*15del) c.967del (p.Ala323ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590200G>A | CA2584490035 | GIPC3 | c.*10G>A (n.*10G>A) c.962G>A (p.Gly321Glu) | gnomAD v4 |
19 | g.3590200G>C | CA631712309 | GIPC3 | c.*10G>C (n.*10G>C) c.962G>C (p.Gly321Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590200G= | CA2318943068 | GIPC3 | c.*10G= (n.*10G=) c.962G= (p.Gly321=) | |
19 | g.3590201G= | CA2318943069 | GIPC3 | c.*11G= (n.*11G=) c.963G= (p.Gly321=) | |
19 | g.3590201G>T | CA9080642 | GIPC3 | c.*11G>T (n.*11G>T) c.963G>T (p.Gly321=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590202G>A | CA304417863 | GIPC3 | c.*12G>A (n.*12G>A) c.964G>A (p.Gly322Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590202G>C | CA881800797 | GIPC3 | c.*12G>C (n.*12G>C) c.964G>C (p.Gly322Arg) | dbSNP |
19 | g.3590202G= | CA2318943070 | GIPC3 | c.*12G= (n.*12G=) c.964G= (p.Gly322=) | |
19 | g.3590203G>A | CA304417870 | GIPC3 | c.*13G>A (n.*13G>A) c.965G>A (p.Gly322Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590203G>C | CA2584490036 | GIPC3 | c.*13G>C (n.*13G>C) c.965G>C (p.Gly322Ala) | gnomAD v4 |
19 | g.3590203G= | CA2318943071 | GIPC3 | c.*13G= (n.*13G=) c.965G= (p.Gly322=) | |
19 | g.3590203G>T | CA631712310 | GIPC3 | c.*13G>T (n.*13G>T) c.965G>T (p.Gly322Val) | dbSNP gnomAD v2 |
19 | g.3590204G>A | CA631712311 | GIPC3 | c.*14G>A (n.*14G>A) c.966G>A (p.Gly322=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590204G>C | CA9080643 | GIPC3 | c.*14G>C (n.*14G>C) c.966G>C (p.Gly322=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590204G= | CA2318943072 | GIPC3 | c.*14G= (n.*14G=) c.966G= (p.Gly322=) | |
19 | g.3590204G>T | CA9080644 | GIPC3 | c.*14G>T (n.*14G>T) c.966G>T (p.Gly322=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3590204_3590227delinsGGCCCAGCACAGCCCCAGCCCGGA | CA2318943073 | GIPC3 | c.*14_*37delinsGGCCCAGCACAGCCCCAGCCCGGA (n.*14_*37delinsGGCCCAGCACAGCCCCAGCCCGGA) c.966_989delinsGGCCCAGCACAGCCCCAGCCCGGA (p.Gly322=) | |
19 | g.3590205G>A | CA9080645 | GIPC3 | c.*15G>A (n.*15G>A) c.967G>A (p.Ala323Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590205G>C | CA631712314 | GIPC3 | c.*15G>C (n.*15G>C) c.967G>C (p.Ala323Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590205G= | CA2318943074 | GIPC3 | c.*15G= (n.*15G=) c.967G= (p.Ala323=) | |
19 | g.3590205G>T | CA631712313 | GIPC3 | c.*15G>T (n.*15G>T) c.967G>T (p.Ala323Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590212_3590234del | CA631712312 | GIPC3 | c.*22_*44del (n.*22_*44del) c.974_996del (p.His325ProfsTer20) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590205_3590206insA | CA9080646 | GIPC3 | c.*15_*16insA (n.*15_*16insA) c.967_968insA (p.Ala323AspfsTer30) | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.3590206C>A | CA992741093 | GIPC3 | c.*16C>A (n.*16C>A) c.968C>A (p.Ala323Asp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3590206C= | CA2318943075 | GIPC3 | c.*16C= (n.*16C=) c.968C= (p.Ala323=) | |
19 | g.3590206C>G | CA9080647 | GIPC3 | c.*16C>G (n.*16C>G) c.968C>G (p.Ala323Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3590206C>T | CA2576567612 | GIPC3 | c.*16C>T (n.*16C>T) c.968C>T (p.Ala323Val) | |
19 | g.3590207C>A | CA2584490037 | GIPC3 | c.*17C>A (n.*17C>A) c.969C>A (p.Ala323=) | gnomAD v4 |
19 | g.3590208C>A | CA2584490038 | GIPC3 | c.*18C>A (n.*18C>A) c.970C>A (p.Gln324Lys) | gnomAD v4 |
19 | g.3590210G>A | CA2584490039 | GIPC3 | c.*20G>A (n.*20G>A) c.972G>A (p.Gln324=) | gnomAD v4 |
19 | g.3590210G>C | CA304417884 | GIPC3 | c.*20G>C (n.*20G>C) c.972G>C (p.Gln324His) | dbSNP gnomAD v4 |
19 | g.3590210G= | CA2318943076 | GIPC3 | c.*20G= (n.*20G=) c.972G= (p.Gln324=) | |
19 | g.3590210G>T | CA2584490040 | GIPC3 | c.*20G>T (n.*20G>T) c.972G>T (p.Gln324His) | gnomAD v4 |
19 | g.3590213_3590220del | CA2584490041 | GIPC3 | c.*23_*30del (n.*23_*30del) c.975_982del (p.His325GlnfsTer25) | gnomAD v4 |
19 | g.3590212del | CA2584490042 | GIPC3 | c.*22del (n.*22del) c.974del (p.His325ProfsTer?) | gnomAD v4 |
19 | g.3590212A>C | CA2584490043 | GIPC3 | c.*22A>C (n.*22A>C) c.974A>C (p.His325Pro) | gnomAD v4 |
19 | g.3590212A>T | CA2584490044 | GIPC3 | c.*22A>T (n.*22A>T) c.974A>T (p.His325Leu) | gnomAD v4 |
19 | g.3590212_3590218delinsACAGCCC | CA2318943077 | GIPC3 | c.*22_*28delinsACAGCCC (n.*22_*28delinsACAGCCC) c.974_980delinsACAGCCC (p.His325=) | |
19 | g.3590213C= | CA2318943079 | GIPC3 | c.*23C= (n.*23C=) c.975C= (p.His325=) | |
19 | g.3590213C>G | CA2735366344 | GIPC3 | c.*23C>G (n.*23C>G) c.975C>G (p.His325Gln) | dbSNP |
19 | g.3590213C>T | CA631712315 | GIPC3 | c.*23C>T (n.*23C>T) c.975C>T (p.His325=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590219_3590224del | CA2318943078 | GIPC3 | c.*29_*34del (n.*29_*34del) c.981_986del (p.Ser328_Pro329del) | dbSNP gnomAD v4 |
19 | g.3590220_3590237dup | CA2584490045 | GIPC3 | c.*30_*47dup (n.*30_*47dup) c.982_999dup (p.Pro333_Leu334insSerProGluProSerPro) | gnomAD v4 |
19 | g.3590213_3590214insGG | CA2584490046 | GIPC3 | c.*23_*24insGG (n.*23_*24insGG) c.975_976insGG (p.Ser326GlyfsTer?) | gnomAD v4 |
19 | g.3590214A= | CA2318943080 | GIPC3 | c.*24A= (n.*24A=) c.976A= (p.Ser326=) | |
19 | g.3590214A>G | CA9080648 | GIPC3 | c.*24A>G (n.*24A>G) c.976A>G (p.Ser326Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3590225_3590321del | CA2584490047 | GIPC3 | c.*35_*131del (n.*35_*131del) c.987_1083del (p.Glu330ThrfsTer?) | gnomAD v4 |
19 | g.3590215G>C | CA2584490048 | GIPC3 | c.*25G>C (n.*25G>C) c.977G>C (p.Ser326Thr) | gnomAD v4 |
19 | g.3590216C>T | CA2576567613 | GIPC3 | c.*26C>T (n.*26C>T) c.978C>T (p.Ser326=) | |
19 | g.3590218_3590219dup | CA2584490049 | GIPC3 | c.*28_*29dup (n.*28_*29dup) c.980_981dup (p.Ser328ProfsTer?) | gnomAD v4 |
19 | g.3590219del | CA2584490050 | GIPC3 | c.*29del (n.*29del) c.981del (p.Ser328AlafsTer?) | gnomAD v4 |
19 | g.3590217C= | CA2318943081 | GIPC3 | c.*27C= (n.*27C=) c.979C= (p.Pro327=) | |
19 | g.3590217C>T | CA631712316 | GIPC3 | c.*27C>T (n.*27C>T) c.979C>T (p.Pro327Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590218C>A | CA631712317 | GIPC3 | c.*28C>A (n.*28C>A) c.980C>A (p.Pro327His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590218C= | CA2318943082 | GIPC3 | c.*28C= (n.*28C=) c.980C= (p.Pro327=) | |
19 | g.3590218C>T | CA631712318 | GIPC3 | c.*28C>T (n.*28C>T) c.980C>T (p.Pro327Leu) | dbSNP gnomAD v2 |
19 | g.3590219C>T | CA2584490051 | GIPC3 | c.*29C>T (n.*29C>T) c.981C>T (p.Pro327=) | gnomAD v4 |
19 | g.3590220A>G | CA2584490052 | GIPC3 | c.*30A>G (n.*30A>G) c.982A>G (p.Ser328Gly) | gnomAD v4 |
19 | g.3590221G>T | CA2584490053 | GIPC3 | c.*31G>T (n.*31G>T) c.983G>T (p.Ser328Ile) | gnomAD v4 |
19 | g.3590222C>T | CA2584490054 | GIPC3 | c.*32C>T (n.*32C>T) c.984C>T (p.Ser328=) | gnomAD v4 |
19 | g.3590223C>A | CA2318943083 | GIPC3 | c.*33C>A (n.*33C>A) c.985C>A (p.Pro329Thr) | dbSNP |
19 | g.3590223C= | CA2318943084 | GIPC3 | c.*33C= (n.*33C=) c.985C= (p.Pro329=) | |
19 | g.3590225_3590255dup | CA2584490055 | GIPC3 | c.*35_*65dup (n.*35_*65dup) c.987_1017dup (p.Arg340GlyfsTer23) | gnomAD v4 |
19 | g.3590224C= | CA2318943085 | GIPC3 | c.*34C= (n.*34C=) c.986C= (p.Pro329=) | |
19 | g.3590224C>T | CA304417903 | GIPC3 | c.*34C>T (n.*34C>T) c.986C>T (p.Pro329Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590225G>A | CA9080649 | GIPC3 | c.*35G>A (n.*35G>A) c.987G>A (p.Pro329=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590225G= | CA2318943086 | GIPC3 | c.*35G= (n.*35G=) c.987G= (p.Pro329=) | |
19 | g.3590226G>A | CA304417915 | GIPC3 | c.*36G>A (n.*36G>A) c.988G>A (p.Glu330Lys) | dbSNP gnomAD v4 |
19 | g.3590226G= | CA2318943087 | GIPC3 | c.*36G= (n.*36G=) c.988G= (p.Glu330=) | |
19 | g.3590227A>C | CA2584490056 | GIPC3 | c.*37A>C (n.*37A>C) c.989A>C (p.Glu330Ala) | gnomAD v4 |
19 | g.3590227A>G | CA2584490057 | GIPC3 | c.*37A>G (n.*37A>G) c.989A>G (p.Glu330Gly) | gnomAD v4 |
19 | g.3590228del | CA2584490058 | GIPC3 | c.*38del (n.*38del) c.990del (p.Glu330AspfsTer?) | gnomAD v4 |
19 | g.3590228G>C | CA2584490059 | GIPC3 | c.*38G>C (n.*38G>C) c.990G>C (p.Glu330Asp) | gnomAD v4 |
19 | g.3590228G= | CA2318943088 | GIPC3 | c.*38G= (n.*38G=) c.990G= (p.Glu330=) | |
19 | g.3590228G>T | CA631712319 | GIPC3 | c.*38G>T (n.*38G>T) c.990G>T (p.Glu330Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590230C= | CA2318943089 | GIPC3 | c.*40C= (n.*40C=) c.992C= (p.Pro331=) | |
19 | g.3590230C>T | CA2318943090 | GIPC3 | c.*40C>T (n.*40C>T) c.992C>T (p.Pro331Leu) | dbSNP |
19 | g.3590231C>A | CA2584490060 | GIPC3 | c.*41C>A (n.*41C>A) c.993C>A (p.Pro331=) | gnomAD v4 |
19 | g.3590231C>T | CA2584490061 | GIPC3 | c.*41C>T (n.*41C>T) c.993C>T (p.Pro331=) | gnomAD v4 |
19 | g.3590232A>G | CA2584490062 | GIPC3 | c.*42A>G (n.*42A>G) c.994A>G (p.Ser332Gly) | gnomAD v4 |
19 | g.3590233G>A | CA2576567614 | GIPC3 | c.*43G>A (n.*43G>A) c.995G>A (p.Ser332Asn) | |
19 | g.3590233G>T | CA2584490063 | GIPC3 | c.*43G>T (n.*43G>T) c.995G>T (p.Ser332Ile) | gnomAD v4 |
19 | g.3590234C>A | CA631712320 | GIPC3 | c.*44C>A (n.*44C>A) c.996C>A (p.Ser332Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590234C= | CA2318943091 | GIPC3 | c.*44C= (n.*44C=) c.996C= (p.Ser332=) | |
19 | g.3590234C>T | CA2584490065 | GIPC3 | c.*44C>T (n.*44C>T) c.996C>T (p.Ser332=) | gnomAD v4 |
19 | g.3590238dup | CA2813336916 | GIPC3 | c.*48dup (n.*48dup) c.1000dup (p.Leu334ProfsTer19) | |
19 | g.3590238del | CA2584490064 | GIPC3 | c.*48del (n.*48del) c.1000del (p.Leu334CysfsTer?) | gnomAD v4 |
19 | g.3590235C>T | CA2813336917 | GIPC3 | c.*45C>T (n.*45C>T) c.997C>T (p.Pro333Ser) | |
19 | g.3590235_3590246delinsCCCCTGCCCCGG | CA2318943092 | GIPC3 | c.*45_*56delinsCCCCTGCCCCGG (n.*45_*56delinsCCCCTGCCCCGG) c.997_1008delinsCCCCTGCCCCGG (p.Pro333=) | |
19 | g.3590236C>A | CA631712321 | GIPC3 | c.*46C>A (n.*46C>A) c.998C>A (p.Pro333His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590236C= | CA2318943093 | GIPC3 | c.*46C= (n.*46C=) c.998C= (p.Pro333=) | |
19 | g.3590236C>T | CA881800836 | GIPC3 | c.*46C>T (n.*46C>T) c.998C>T (p.Pro333Leu) | dbSNP gnomAD v4 |
19 | g.3590242_3590252del | CA9080650 | GIPC3 | c.*52_*62del (n.*52_*62del) c.1004_1014del (p.Pro335LeufsTer14) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3590237C>A | CA2576567615 | GIPC3 | c.*47C>A (n.*47C>A) c.999C>A (p.Pro333=) | |
19 | g.3590237C= | CA2318943094 | GIPC3 | c.*47C= (n.*47C=) c.999C= (p.Pro333=) | |
19 | g.3590237C>G | CA631712322 | GIPC3 | c.*47C>G (n.*47C>G) c.999C>G (p.Pro333=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590237C>T | CA2584490066 | GIPC3 | c.*47C>T (n.*47C>T) c.999C>T (p.Pro333=) | gnomAD v4 |
19 | g.3590238C= | CA2318943096 | GIPC3 | c.*48C= (n.*48C=) c.1000C= (p.Leu334=) | |
19 | g.3590238C>T | CA2318943097 | GIPC3 | c.*48C>T (n.*48C>T) c.1000C>T (p.Leu334=) | dbSNP gnomAD v4 |
19 | g.3590238_3590239delinsCT | CA2318943095 | GIPC3 | c.*48_*49delinsCT (n.*48_*49delinsCT) c.1000_1001delinsCT (p.Leu334=) | |
19 | g.3590239del | CA631712323 | GIPC3 | c.*49del (n.*49del) c.1001del (p.Leu334ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590239T>C | CA2584490067 | GIPC3 | c.*49T>C (n.*49T>C) c.1001T>C (p.Leu334Pro) | gnomAD v4 |
19 | g.3590240G>A | CA631712324 | GIPC3 | c.*50G>A (n.*50G>A) c.1002G>A (p.Leu334=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590240G>C | CA631712325 | GIPC3 | c.*50G>C (n.*50G>C) c.1002G>C (p.Leu334=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590240G= | CA2318943098 | GIPC3 | c.*50G= (n.*50G=) c.1002G= (p.Leu334=) | |
19 | g.3590240G>T | CA2576567616 | GIPC3 | c.*50G>T (n.*50G>T) c.1002G>T (p.Leu334=) | gnomAD v4 |
19 | g.3590241C>A | CA2584490069 | GIPC3 | c.*51C>A (n.*51C>A) c.1003C>A (p.Pro335Thr) | gnomAD v4 |
19 | g.3590241C= | CA2318943099 | GIPC3 | c.*51C= (n.*51C=) c.1003C= (p.Pro335=) | |
19 | g.3590241C>G | CA631712326 | GIPC3 | c.*51C>G (n.*51C>G) c.1003C>G (p.Pro335Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590241C>T | CA2515545883 | GIPC3 | c.*51C>T (n.*51C>T) c.1003C>T (p.Pro335Ser) | gnomAD v4 |
19 | g.3590244del | CA2584490068 | GIPC3 | c.*54del (n.*54del) c.1006del (p.Arg336GlyfsTer?) | gnomAD v4 |
19 | g.3590242C>A | CA881800847 | GIPC3 | c.*52C>A (n.*52C>A) c.1004C>A (p.Pro335His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3590242C= | CA2318943100 | GIPC3 | c.*52C= (n.*52C=) c.1004C= (p.Pro335=) | |
19 | g.3590242C>G | CA2584490070 | GIPC3 | c.*52C>G (n.*52C>G) c.1004C>G (p.Pro335Arg) | gnomAD v4 |
19 | g.3590242C>T | CA631712327 | GIPC3 | c.*52C>T (n.*52C>T) c.1004C>T (p.Pro335Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3590243C>A | CA992741105 | GIPC3 | c.*53C>A (n.*53C>A) c.1005C>A (p.Pro335=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3590243C= | CA2318943101 | GIPC3 | c.*53C= (n.*53C=) c.1005C= (p.Pro335=) | |
19 | g.3590244C= | CA2318943102 | GIPC3 | c.*54C= (n.*54C=) c.1006C= (p.Arg336=) | |
19 | g.3590244C>T | CA304417921 | GIPC3 | c.*54C>T (n.*54C>T) c.1006C>T (p.Arg336Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3590245G>A | CA304417925 | GIPC3 | c.*55G>A (n.*55G>A) c.1007G>A (p.Arg336Gln) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3590245G= | CA2318943103 | GIPC3 | c.*55G= (n.*55G=) c.1007G= (p.Arg336=) | |
19 | g.3590245G>T | CA2584490072 | GIPC3 | c.*55G>T (n.*55G>T) c.1007G>T (p.Arg336Leu) | gnomAD v4 |
19 | g.3590246del | CA2584490071 | GIPC3 | c.*56del (n.*56del) c.1008del (p.Cys338AlafsTer?) | gnomAD v4 |
19 | g.3590246G>T | CA2584490073 | GIPC3 | c.*56G>T (n.*56G>T) c.1008G>T (p.Arg336=) | gnomAD v4 |
19 | g.3590248C>A | CA2584490074 | GIPC3 | c.*58C>A (n.*58C>A) c.1010C>A (p.Pro337His) | gnomAD v4 |
19 | g.3590248C= | CA2318943104 | GIPC3 | c.*58C= (n.*58C=) c.1010C= (p.Pro337=) | |
19 | g.3590248C>G | CA2318943105 | GIPC3 | c.*58C>G (n.*58C>G) c.1010C>G (p.Pro337Arg) | dbSNP |
19 | g.3590249C>A | CA2584490075 | GIPC3 | c.*59C>A (n.*59C>A) c.1011C>A (p.Pro337=) | gnomAD v4 |
19 | g.3590249C>G | CA2584490076 | GIPC3 | c.*59C>G (n.*59C>G) c.1011C>G (p.Pro337=) | gnomAD v4 |
19 | g.3590249C>T | CA2584490077 | GIPC3 | c.*59C>T (n.*59C>T) c.1011C>T (p.Pro337=) | gnomAD v4 |
19 | g.3590250T>C | CA2584490078 | GIPC3 | c.*60T>C (n.*60T>C) c.1012T>C (p.Cys338Arg) | gnomAD v4 |
19 | g.3590250T>G | CA2576567617 | GIPC3 | c.*60T>G (n.*60T>G) c.1012T>G (p.Cys338Gly) | gnomAD v4 |
19 | g.3590251G>A | CA2584490079 | GIPC3 | c.*61G>A (n.*61G>A) c.1013G>A (p.Cys338Tyr) | gnomAD v4 |
19 | g.3590252C>A | CA2584490080 | GIPC3 | c.*62C>A (n.*62C>A) c.1014C>A (p.Cys338Ter) | gnomAD v4 |
19 | g.3590252C>T | CA2576567618 | GIPC3 | c.*62C>T (n.*62C>T) c.1014C>T (p.Cys338=) | gnomAD v4 |
19 | g.3590253T>C | CA2584490081 | GIPC3 | c.*63T>C (n.*63T>C) c.1015T>C (p.Ser339Pro) | gnomAD v4 |
19 | g.3590254C>G | CA2584490082 | GIPC3 | c.*64C>G (n.*64C>G) c.1016C>G (p.Ser339Cys) | gnomAD v4 |
19 | g.3590255C>A | CA2584490083 | GIPC3 | c.*65C>A (n.*65C>A) c.1017C>A (p.Ser339=) | gnomAD v4 |
19 | g.3590255C>T | CA2576567619 | GIPC3 | c.*65C>T (n.*65C>T) c.1017C>T (p.Ser339=) | gnomAD v4 |
19 | g.3590256A= | CA2318943106 | GIPC3 | c.*66A= (n.*66A=) c.1018A= (p.Arg340=) | |
19 | g.3590256A>G | CA304417931 | GIPC3 | c.*66A>G (n.*66A>G) c.1018A>G (p.Arg340Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3590257G>A | CA304417945 | GIPC3 | c.*67G>A (n.*67G>A) c.1019G>A (p.Arg340Lys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3590257G= | CA2318943107 | GIPC3 | c.*67G= (n.*67G=) c.1019G= (p.Arg340=) |