Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.46898621_46898640delCA2522098033PTH1Rc.639-41_639-22del (n.639-41_639-22del)
n.659-41_659-22del
c.546-41_546-22del (n.546-41_546-22del)
c.678-41_678-22del (n.678-41_678-22del)
c.660-41_660-22del (n.660-41_660-22del)
3g.46898623C>ACA543041975PTH1Rc.639-39C>A (n.639-39C>A)
n.659-39C>A
c.546-39C>A (n.546-39C>A)
c.678-39C>A (n.678-39C>A)
c.660-39C>A (n.660-39C>A)
 dbSNP gnomAD v2 gnomAD v4
3g.46898623C=CA1362310688PTH1Rc.639-39C= (n.639-39C=)
n.659-39C=
c.546-39C= (n.546-39C=)
c.678-39C= (n.678-39C=)
c.660-39C= (n.660-39C=)
3g.46898623C>TCA2665482376PTH1Rc.639-39C>T (n.639-39C>T)
n.659-39C>T
c.546-39C>T (n.546-39C>T)
c.678-39C>T (n.678-39C>T)
c.660-39C>T (n.660-39C>T)
 gnomAD v4
3g.46898624C>ACA2665482377PTH1Rc.639-38C>A (n.639-38C>A)
n.659-38C>A
c.546-38C>A (n.546-38C>A)
c.678-38C>A (n.678-38C>A)
c.660-38C>A (n.660-38C>A)
 gnomAD v4
3g.46898624C=CA1362310689PTH1Rc.639-38C= (n.639-38C=)
n.659-38C=
c.546-38C= (n.546-38C=)
c.678-38C= (n.678-38C=)
c.660-38C= (n.660-38C=)
3g.46898624C>GCA2665482378PTH1Rc.639-38C>G (n.639-38C>G)
n.659-38C>G
c.546-38C>G (n.546-38C>G)
c.678-38C>G (n.678-38C>G)
c.660-38C>G (n.660-38C>G)
 gnomAD v4
3g.46898624C>TCA543041976PTH1Rc.639-38C>T (n.639-38C>T)
n.659-38C>T
c.546-38C>T (n.546-38C>T)
c.678-38C>T (n.678-38C>T)
c.660-38C>T (n.660-38C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46898625C>ACA543041977PTH1Rc.639-37C>A (n.639-37C>A)
n.659-37C>A
c.546-37C>A (n.546-37C>A)
c.678-37C>A (n.678-37C>A)
c.660-37C>A (n.660-37C>A)
 dbSNP gnomAD v2 gnomAD v4
3g.46898625C=CA1362310691PTH1Rc.639-37C= (n.639-37C=)
n.659-37C=
c.546-37C= (n.546-37C=)
c.678-37C= (n.678-37C=)
c.660-37C= (n.660-37C=)
3g.46898625C>GCA907620257PTH1Rc.639-37C>G (n.639-37C>G)
n.659-37C>G
c.546-37C>G (n.546-37C>G)
c.678-37C>G (n.678-37C>G)
c.660-37C>G (n.660-37C>G)
 dbSNP
3g.46898625C>TCA2665482379PTH1Rc.639-37C>T (n.639-37C>T)
n.659-37C>T
c.546-37C>T (n.546-37C>T)
c.678-37C>T (n.678-37C>T)
c.660-37C>T (n.660-37C>T)
 gnomAD v4
3g.46898626_46898629dupCA2577579737PTH1Rc.639-36_639-33dup (n.639-36_639-33dup)
n.659-36_659-33dup
c.546-36_546-33dup (n.546-36_546-33dup)
c.678-36_678-33dup (n.678-36_678-33dup)
c.660-36_660-33dup (n.660-36_660-33dup)
3g.46898626G>ACA2665482381PTH1Rc.639-36G>A (n.639-36G>A)
n.659-36G>A
c.546-36G>A (n.546-36G>A)
c.678-36G>A (n.678-36G>A)
c.660-36G>A (n.660-36G>A)
 gnomAD v4
3g.46898626G>TCA2665482380PTH1Rc.639-36G>T (n.639-36G>T)
n.659-36G>T
c.546-36G>T (n.546-36G>T)
c.678-36G>T (n.678-36G>T)
c.660-36G>T (n.660-36G>T)
 gnomAD v4
3g.46898627T>ACA2739834349PTH1Rc.639-35T>A (n.639-35T>A)
n.659-35T>A
c.546-35T>A (n.546-35T>A)
c.678-35T>A (n.678-35T>A)
c.660-35T>A (n.660-35T>A)
3g.46898627T>CCA2739834348PTH1Rc.639-35T>C (n.639-35T>C)
n.659-35T>C
c.546-35T>C (n.546-35T>C)
c.678-35T>C (n.678-35T>C)
c.660-35T>C (n.660-35T>C)
3g.46898627T>GCA2739834347PTH1Rc.639-35T>G (n.639-35T>G)
n.659-35T>G
c.546-35T>G (n.546-35T>G)
c.678-35T>G (n.678-35T>G)
c.660-35T>G (n.660-35T>G)
3g.46898628G>ACA2359280PTH1Rc.639-34G>A (n.639-34G>A)
n.659-34G>A
c.546-34G>A (n.546-34G>A)
c.678-34G>A (n.678-34G>A)
c.660-34G>A (n.660-34G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46898628G>CCA2739834350PTH1Rc.639-34G>C (n.639-34G>C)
n.659-34G>C
c.546-34G>C (n.546-34G>C)
c.678-34G>C (n.678-34G>C)
c.660-34G>C (n.660-34G>C)
3g.46898628G=CA1362310693PTH1Rc.639-34G= (n.639-34G=)
n.659-34G=
c.546-34G= (n.546-34G=)
c.678-34G= (n.678-34G=)
c.660-34G= (n.660-34G=)
3g.46898628G>TCA2665482382PTH1Rc.639-34G>T (n.639-34G>T)
n.659-34G>T
c.546-34G>T (n.546-34G>T)
c.678-34G>T (n.678-34G>T)
c.660-34G>T (n.660-34G>T)
 gnomAD v4
3g.46898629C=CA1362310694PTH1Rc.639-33C= (n.639-33C=)
n.659-33C=
c.546-33C= (n.546-33C=)
c.678-33C= (n.678-33C=)
c.660-33C= (n.660-33C=)
3g.46898629C>GCA2739834351PTH1Rc.639-33C>G (n.639-33C>G)
n.659-33C>G
c.546-33C>G (n.546-33C>G)
c.678-33C>G (n.678-33C>G)
c.660-33C>G (n.660-33C>G)
3g.46898629C>TCA73769744PTH1Rc.639-33C>T (n.639-33C>T)
n.659-33C>T
c.546-33C>T (n.546-33C>T)
c.678-33C>T (n.678-33C>T)
c.660-33C>T (n.660-33C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.46898633delCA2665482383PTH1Rc.639-29del (n.639-29del)
n.659-29del
c.546-29del (n.546-29del)
c.678-29del (n.678-29del)
c.660-29del (n.660-29del)
 gnomAD v4
3g.46898630C>ACA2665482384PTH1Rc.639-32C>A (n.639-32C>A)
n.659-32C>A
c.546-32C>A (n.546-32C>A)
c.678-32C>A (n.678-32C>A)
c.660-32C>A (n.660-32C>A)
 gnomAD v4
3g.46898630C>GCA2577579739PTH1Rc.639-32C>G (n.639-32C>G)
n.659-32C>G
c.546-32C>G (n.546-32C>G)
c.678-32C>G (n.678-32C>G)
c.660-32C>G (n.660-32C>G)
3g.46898630C>TCA2702682493PTH1Rc.639-32C>T (n.639-32C>T)
n.659-32C>T
c.546-32C>T (n.546-32C>T)
c.678-32C>T (n.678-32C>T)
c.660-32C>T (n.660-32C>T)
 dbSNP
3g.46898631C>ACA2665482385PTH1Rc.639-31C>A (n.639-31C>A)
n.659-31C>A
c.546-31C>A (n.546-31C>A)
c.678-31C>A (n.678-31C>A)
c.660-31C>A (n.660-31C>A)
 gnomAD v4
3g.46898631C=CA1362310695PTH1Rc.639-31C= (n.639-31C=)
n.659-31C=
c.546-31C= (n.546-31C=)
c.678-31C= (n.678-31C=)
c.660-31C= (n.660-31C=)
3g.46898631C>GCA543041978PTH1Rc.639-31C>G (n.639-31C>G)
n.659-31C>G
c.546-31C>G (n.546-31C>G)
c.678-31C>G (n.678-31C>G)
c.660-31C>G (n.660-31C>G)
 dbSNP gnomAD v2 gnomAD v4
3g.46898631C>TCA2665482386PTH1Rc.639-31C>T (n.639-31C>T)
n.659-31C>T
c.546-31C>T (n.546-31C>T)
c.678-31C>T (n.678-31C>T)
c.660-31C>T (n.660-31C>T)
 gnomAD v4
3g.46898633C>ACA2739834352PTH1Rc.639-29C>A (n.639-29C>A)
n.659-29C>A
c.546-29C>A (n.546-29C>A)
c.678-29C>A (n.678-29C>A)
c.660-29C>A (n.660-29C>A)
3g.46898633C=CA1362310696PTH1Rc.639-29C= (n.639-29C=)
n.659-29C=
c.546-29C= (n.546-29C=)
c.678-29C= (n.678-29C=)
c.660-29C= (n.660-29C=)
3g.46898633C>GCA2359282PTH1Rc.639-29C>G (n.639-29C>G)
n.659-29C>G
c.546-29C>G (n.546-29C>G)
c.678-29C>G (n.678-29C>G)
c.660-29C>G (n.660-29C>G)
 dbSNP ExAC gnomAD v4
3g.46898633C>TCA2359281PTH1Rc.639-29C>T (n.639-29C>T)
n.659-29C>T
c.546-29C>T (n.546-29C>T)
c.678-29C>T (n.678-29C>T)
c.660-29C>T (n.660-29C>T)
 dbSNP ExAC gnomAD v2
3g.46898634A=CA1362310697PTH1Rc.639-28A= (n.639-28A=)
n.659-28A=
c.546-28A= (n.546-28A=)
c.678-28A= (n.678-28A=)
c.660-28A= (n.660-28A=)
3g.46898634A>CCA73769765PTH1Rc.639-28A>C (n.639-28A>C)
n.659-28A>C
c.546-28A>C (n.546-28A>C)
c.678-28A>C (n.678-28A>C)
c.660-28A>C (n.660-28A>C)
 dbSNP
3g.46898634A>GCA2739834353PTH1Rc.639-28A>G (n.639-28A>G)
n.659-28A>G
c.546-28A>G (n.546-28A>G)
c.678-28A>G (n.678-28A>G)
c.660-28A>G (n.660-28A>G)
3g.46898634A>TCA2739834354PTH1Rc.639-28A>T (n.639-28A>T)
n.659-28A>T
c.546-28A>T (n.546-28A>T)
c.678-28A>T (n.678-28A>T)
c.660-28A>T (n.660-28A>T)
3g.46898635C>ACA2577579740PTH1Rc.639-27C>A (n.639-27C>A)
n.659-27C>A
c.546-27C>A (n.546-27C>A)
c.678-27C>A (n.678-27C>A)
c.660-27C>A (n.660-27C>A)
 gnomAD v4
3g.46898635C=CA1362310698PTH1Rc.639-27C= (n.639-27C=)
n.659-27C=
c.546-27C= (n.546-27C=)
c.678-27C= (n.678-27C=)
c.660-27C= (n.660-27C=)
3g.46898635C>GCA2739834355PTH1Rc.639-27C>G (n.639-27C>G)
n.659-27C>G
c.546-27C>G (n.546-27C>G)
c.678-27C>G (n.678-27C>G)
c.660-27C>G (n.660-27C>G)
3g.46898635C>TCA907620263PTH1Rc.639-27C>T (n.639-27C>T)
n.659-27C>T
c.546-27C>T (n.546-27C>T)
c.678-27C>T (n.678-27C>T)
c.660-27C>T (n.660-27C>T)
 dbSNP gnomAD v3 gnomAD v4
3g.46898636C>ACA2665482387PTH1Rc.639-26C>A (n.639-26C>A)
n.659-26C>A
c.546-26C>A (n.546-26C>A)
c.678-26C>A (n.678-26C>A)
c.660-26C>A (n.660-26C>A)
 gnomAD v4
3g.46898636C=CA1362310703PTH1Rc.639-26C= (n.639-26C=)
n.659-26C=
c.546-26C= (n.546-26C=)
c.678-26C= (n.678-26C=)
c.660-26C= (n.660-26C=)
3g.46898636C>GCA2359283PTH1Rc.639-26C>G (n.639-26C>G)
n.659-26C>G
c.546-26C>G (n.546-26C>G)
c.678-26C>G (n.678-26C>G)
c.660-26C>G (n.660-26C>G)
 dbSNP ExAC
3g.46898636C>TCA543041979PTH1Rc.639-26C>T (n.639-26C>T)
n.659-26C>T
c.546-26C>T (n.546-26C>T)
c.678-26C>T (n.678-26C>T)
c.660-26C>T (n.660-26C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46898637C>ACA2665482388PTH1Rc.639-25C>A (n.639-25C>A)
n.659-25C>A
c.546-25C>A (n.546-25C>A)
c.678-25C>A (n.678-25C>A)
c.660-25C>A (n.660-25C>A)
 gnomAD v4
3g.46898637C>GCA2739834356PTH1Rc.639-25C>G (n.639-25C>G)
n.659-25C>G
c.546-25C>G (n.546-25C>G)
c.678-25C>G (n.678-25C>G)
c.660-25C>G (n.660-25C>G)
3g.46898637C>TCA2739834357PTH1Rc.639-25C>T (n.639-25C>T)
n.659-25C>T
c.546-25C>T (n.546-25C>T)
c.678-25C>T (n.678-25C>T)
c.660-25C>T (n.660-25C>T)
3g.46898639C>ACA2665482389PTH1Rc.639-23C>A (n.639-23C>A)
n.659-23C>A
c.546-23C>A (n.546-23C>A)
c.678-23C>A (n.678-23C>A)
c.660-23C>A (n.660-23C>A)
 gnomAD v4
3g.46898639C=CA1362310705PTH1Rc.639-23C= (n.639-23C=)
n.659-23C=
c.546-23C= (n.546-23C=)
c.678-23C= (n.678-23C=)
c.660-23C= (n.660-23C=)
3g.46898639C>GCA2739834358PTH1Rc.639-23C>G (n.639-23C>G)
n.659-23C>G
c.546-23C>G (n.546-23C>G)
c.678-23C>G (n.678-23C>G)
c.660-23C>G (n.660-23C>G)
3g.46898639C>TCA543041980PTH1Rc.639-23C>T (n.639-23C>T)
n.659-23C>T
c.546-23C>T (n.546-23C>T)
c.678-23C>T (n.678-23C>T)
c.660-23C>T (n.660-23C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46898640G>ACA2665482390PTH1Rc.639-22G>A (n.639-22G>A)
n.659-22G>A
c.546-22G>A (n.546-22G>A)
c.678-22G>A (n.678-22G>A)
c.660-22G>A (n.660-22G>A)
 gnomAD v4
3g.46898640G>CCA2359284PTH1Rc.639-22G>C (n.639-22G>C)
n.659-22G>C
c.546-22G>C (n.546-22G>C)
c.678-22G>C (n.678-22G>C)
c.660-22G>C (n.660-22G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46898640G=CA1362310708PTH1Rc.639-22G= (n.639-22G=)
n.659-22G=
c.546-22G= (n.546-22G=)
c.678-22G= (n.678-22G=)
c.660-22G= (n.660-22G=)
3g.46898640G>TCA2665482391PTH1Rc.639-22G>T (n.639-22G>T)
n.659-22G>T
c.546-22G>T (n.546-22G>T)
c.678-22G>T (n.678-22G>T)
c.660-22G>T (n.660-22G>T)
 gnomAD v4
3g.46898641G>TCA2665482392PTH1Rc.639-21G>T (n.639-21G>T)
n.659-21G>T
c.546-21G>T (n.546-21G>T)
c.678-21G>T (n.678-21G>T)
c.660-21G>T (n.660-21G>T)
 gnomAD v4
3g.46898642T>ACA2739834359PTH1Rc.639-20T>A (n.639-20T>A)
n.659-20T>A
c.546-20T>A (n.546-20T>A)
c.678-20T>A (n.678-20T>A)
c.660-20T>A (n.660-20T>A)
3g.46898642T>CCA2739834360PTH1Rc.639-20T>C (n.639-20T>C)
n.659-20T>C
c.546-20T>C (n.546-20T>C)
c.678-20T>C (n.678-20T>C)
c.660-20T>C (n.660-20T>C)
3g.46898642T>GCA2739834361PTH1Rc.639-20T>G (n.639-20T>G)
n.659-20T>G
c.546-20T>G (n.546-20T>G)
c.678-20T>G (n.678-20T>G)
c.660-20T>G (n.660-20T>G)
3g.46898643C>ACA2665482393PTH1Rc.639-19C>A (n.639-19C>A)
n.659-19C>A
c.546-19C>A (n.546-19C>A)
c.678-19C>A (n.678-19C>A)
c.660-19C>A (n.660-19C>A)
 gnomAD v4
3g.46898643C=CA1362310711PTH1Rc.639-19C= (n.639-19C=)
n.659-19C=
c.546-19C= (n.546-19C=)
c.678-19C= (n.678-19C=)
c.660-19C= (n.660-19C=)
3g.46898643C>TCA543041981PTH1Rc.639-19C>T (n.639-19C>T)
n.659-19C>T
c.546-19C>T (n.546-19C>T)
c.678-19C>T (n.678-19C>T)
c.660-19C>T (n.660-19C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46898644A=CA1362310713PTH1Rc.639-18A= (n.639-18A=)
n.659-18A=
c.546-18A= (n.546-18A=)
c.678-18A= (n.678-18A=)
c.660-18A= (n.660-18A=)
3g.46898644A>GCA1047537877PTH1Rc.639-18A>G (n.639-18A>G)
n.659-18A>G
c.546-18A>G (n.546-18A>G)
c.678-18A>G (n.678-18A>G)
c.660-18A>G (n.660-18A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.46898644A>TCA543041982PTH1Rc.639-18A>T (n.639-18A>T)
n.659-18A>T
c.546-18A>T (n.546-18A>T)
c.678-18A>T (n.678-18A>T)
c.660-18A>T (n.660-18A>T)
 dbSNP gnomAD v2 gnomAD v4
3g.46898645T>ACA2739834362PTH1Rc.639-17T>A (n.639-17T>A)
n.659-17T>A
c.546-17T>A (n.546-17T>A)
c.678-17T>A (n.678-17T>A)
c.660-17T>A (n.660-17T>A)
3g.46898645T>CCA2665482394PTH1Rc.639-17T>C (n.639-17T>C)
n.659-17T>C
c.546-17T>C (n.546-17T>C)
c.678-17T>C (n.678-17T>C)
c.660-17T>C (n.660-17T>C)
 gnomAD v4
3g.46898645T>GCA2739834363PTH1Rc.639-17T>G (n.639-17T>G)
n.659-17T>G
c.546-17T>G (n.546-17T>G)
c.678-17T>G (n.678-17T>G)
c.660-17T>G (n.660-17T>G)
3g.46898646G>ACA907620270PTH1Rc.639-16G>A (n.639-16G>A)
n.659-16G>A
c.546-16G>A (n.546-16G>A)
c.678-16G>A (n.678-16G>A)
c.660-16G>A (n.660-16G>A)
 dbSNP gnomAD v4
3g.46898646G>CCA2739834364PTH1Rc.639-16G>C (n.639-16G>C)
n.659-16G>C
c.546-16G>C (n.546-16G>C)
c.678-16G>C (n.678-16G>C)
c.660-16G>C (n.660-16G>C)
3g.46898646G=CA1362310715PTH1Rc.639-16G= (n.639-16G=)
n.659-16G=
c.546-16G= (n.546-16G=)
c.678-16G= (n.678-16G=)
c.660-16G= (n.660-16G=)
3g.46898646G>TCA2739834365PTH1Rc.639-16G>T (n.639-16G>T)
n.659-16G>T
c.546-16G>T (n.546-16G>T)
c.678-16G>T (n.678-16G>T)
c.660-16G>T (n.660-16G>T)
3g.46898647T>CCA2665482395PTH1Rc.639-15T>C (n.639-15T>C)
n.659-15T>C
c.546-15T>C (n.546-15T>C)
c.678-15T>C (n.678-15T>C)
c.660-15T>C (n.660-15T>C)
 gnomAD v4
3g.46898647T>GCA2739834366PTH1Rc.639-15T>G (n.639-15T>G)
n.659-15T>G
c.546-15T>G (n.546-15T>G)
c.678-15T>G (n.678-15T>G)
c.660-15T>G (n.660-15T>G)
3g.46898648C>ACA543041983PTH1Rc.639-14C>A (n.639-14C>A)
n.659-14C>A
c.546-14C>A (n.546-14C>A)
c.678-14C>A (n.678-14C>A)
c.660-14C>A (n.660-14C>A)
 dbSNP gnomAD v2 gnomAD v4
3g.46898648C=CA1362310718PTH1Rc.639-14C= (n.639-14C=)
n.659-14C=
c.546-14C= (n.546-14C=)
c.678-14C= (n.678-14C=)
c.660-14C= (n.660-14C=)
3g.46898648C>GCA2359285PTH1Rc.639-14C>G (n.639-14C>G)
n.659-14C>G
c.546-14C>G (n.546-14C>G)
c.678-14C>G (n.678-14C>G)
c.660-14C>G (n.660-14C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898648C>TCA2359286PTH1Rc.639-14C>T (n.639-14C>T)
n.659-14C>T
c.546-14C>T (n.546-14C>T)
c.678-14C>T (n.678-14C>T)
c.660-14C>T (n.660-14C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46898649G>ACA543041984PTH1Rc.639-13G>A (n.639-13G>A)
n.659-13G>A
c.546-13G>A (n.546-13G>A)
c.678-13G>A (n.678-13G>A)
c.660-13G>A (n.660-13G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.46898649G>CCA2739834367PTH1Rc.639-13G>C (n.639-13G>C)
n.659-13G>C
c.546-13G>C (n.546-13G>C)
c.678-13G>C (n.678-13G>C)
c.660-13G>C (n.660-13G>C)
3g.46898649G=CA1362310721PTH1Rc.639-13G= (n.639-13G=)
n.659-13G=
c.546-13G= (n.546-13G=)
c.678-13G= (n.678-13G=)
c.660-13G= (n.660-13G=)
3g.46898649G>TCA2739834368PTH1Rc.639-13G>T (n.639-13G>T)
n.659-13G>T
c.546-13G>T (n.546-13G>T)
c.678-13G>T (n.678-13G>T)
c.660-13G>T (n.660-13G>T)
3g.46898650C>TCA2665482396PTH1Rc.639-12C>T (n.639-12C>T)
n.659-12C>T
c.546-12C>T (n.546-12C>T)
c.678-12C>T (n.678-12C>T)
c.660-12C>T (n.660-12C>T)
 gnomAD v4
3g.46898651G>ACA2739834369PTH1Rc.639-11G>A (n.639-11G>A)
n.659-11G>A
c.546-11G>A (n.546-11G>A)
c.678-11G>A (n.678-11G>A)
c.660-11G>A (n.660-11G>A)
3g.46898651G>CCA2739834370PTH1Rc.639-11G>C (n.639-11G>C)
n.659-11G>C
c.546-11G>C (n.546-11G>C)
c.678-11G>C (n.678-11G>C)
c.660-11G>C (n.660-11G>C)
3g.46898651G=CA1362310723PTH1Rc.639-11G= (n.639-11G=)
n.659-11G=
c.546-11G= (n.546-11G=)
c.678-11G= (n.678-11G=)
c.660-11G= (n.660-11G=)
3g.46898651G>TCA543041985PTH1Rc.639-11G>T (n.639-11G>T)
n.659-11G>T
c.546-11G>T (n.546-11G>T)
c.678-11G>T (n.678-11G>T)
c.660-11G>T (n.660-11G>T)
 dbSNP gnomAD v2 gnomAD v4
3g.46898652C>ACA2739834371PTH1Rc.639-10C>A (n.639-10C>A)
n.659-10C>A
c.546-10C>A (n.546-10C>A)
c.678-10C>A (n.678-10C>A)
c.660-10C>A (n.660-10C>A)
3g.46898652C=CA1362310726PTH1Rc.639-10C= (n.639-10C=)
n.659-10C=
c.546-10C= (n.546-10C=)
c.678-10C= (n.678-10C=)
c.660-10C= (n.660-10C=)
3g.46898652C>GCA2359288PTH1Rc.639-10C>G (n.639-10C>G)
n.659-10C>G
c.546-10C>G (n.546-10C>G)
c.678-10C>G (n.678-10C>G)
c.660-10C>G (n.660-10C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898652C>TCA2359287PTH1Rc.639-10C>T (n.639-10C>T)
n.659-10C>T
c.546-10C>T (n.546-10C>T)
c.678-10C>T (n.678-10C>T)
c.660-10C>T (n.660-10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898653G>ACA2665482398PTH1Rc.639-9G>A (n.639-9G>A)
n.659-9G>A
c.546-9G>A (n.546-9G>A)
c.678-9G>A (n.678-9G>A)
c.660-9G>A (n.660-9G>A)
 gnomAD v4
3g.46898653G>TCA2665482397PTH1Rc.639-9G>T (n.639-9G>T)
n.659-9G>T
c.546-9G>T (n.546-9G>T)
c.678-9G>T (n.678-9G>T)
c.660-9G>T (n.660-9G>T)
 gnomAD v4
3g.46898654C>ACA2739834372PTH1Rc.639-8C>A (n.639-8C>A)
n.659-8C>A
c.546-8C>A (n.546-8C>A)
c.678-8C>A (n.678-8C>A)
c.660-8C>A (n.660-8C>A)
3g.46898654C=CA1362310731PTH1Rc.639-8C= (n.639-8C=)
n.659-8C=
c.546-8C= (n.546-8C=)
c.678-8C= (n.678-8C=)
c.660-8C= (n.660-8C=)
3g.46898654C>GCA2739834373PTH1Rc.639-8C>G (n.639-8C>G)
n.659-8C>G
c.546-8C>G (n.546-8C>G)
c.678-8C>G (n.678-8C>G)
c.660-8C>G (n.660-8C>G)
3g.46898654C>TCA543041986PTH1Rc.639-8C>T (n.639-8C>T)
n.659-8C>T
c.546-8C>T (n.546-8C>T)
c.678-8C>T (n.678-8C>T)
c.660-8C>T (n.660-8C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.46898657delCA2577579742PTH1Rc.639-5del (n.639-5del)
n.659-5del
c.546-5del (n.546-5del)
c.678-5del (n.678-5del)
c.660-5del (n.660-5del)
3g.46898655C>ACA1362310733PTH1Rc.639-7C>A (n.639-7C>A)
n.659-7C>A
c.546-7C>A (n.546-7C>A)
c.678-7C>A (n.678-7C>A)
c.660-7C>A (n.660-7C>A)
 dbSNP gnomAD v4
3g.46898655C=CA1362310735PTH1Rc.639-7C= (n.639-7C=)
n.659-7C=
c.546-7C= (n.546-7C=)
c.678-7C= (n.678-7C=)
c.660-7C= (n.660-7C=)
3g.46898655C>GCA2739834374PTH1Rc.639-7C>G (n.639-7C>G)
n.659-7C>G
c.546-7C>G (n.546-7C>G)
c.678-7C>G (n.678-7C>G)
c.660-7C>G (n.660-7C>G)
3g.46898655C>TCA73769812PTH1Rc.639-7C>T (n.639-7C>T)
n.659-7C>T
c.546-7C>T (n.546-7C>T)
c.678-7C>T (n.678-7C>T)
c.660-7C>T (n.660-7C>T)
 dbSNP gnomAD v4
3g.46898657C>ACA2665482399PTH1Rc.639-5C>A (n.639-5C>A)
n.659-5C>A
c.546-5C>A (n.546-5C>A)
c.678-5C>A (n.678-5C>A)
c.660-5C>A (n.660-5C>A)
 gnomAD v4
3g.46898657C>GCA2665482400PTH1Rc.639-5C>G (n.639-5C>G)
n.659-5C>G
c.546-5C>G (n.546-5C>G)
c.678-5C>G (n.678-5C>G)
c.660-5C>G (n.660-5C>G)
 gnomAD v4
3g.46898657C>TCA2665482401PTH1Rc.639-5C>T (n.639-5C>T)
n.659-5C>T
c.546-5C>T (n.546-5C>T)
c.678-5C>T (n.678-5C>T)
c.660-5C>T (n.660-5C>T)
 gnomAD v4
3g.46898658G>ACA433470768PTH1Rc.639-4G>A (n.639-4G>A)
n.659-4G>A
c.546-4G>A (n.546-4G>A)
c.678-4G>A (n.678-4G>A)
c.660-4G>A (n.660-4G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.46898658G>CCA2739834375PTH1Rc.639-4G>C (n.639-4G>C)
n.659-4G>C
c.546-4G>C (n.546-4G>C)
c.678-4G>C (n.678-4G>C)
c.660-4G>C (n.660-4G>C)
3g.46898658G=CA1362310736PTH1Rc.639-4G= (n.639-4G=)
n.659-4G=
c.546-4G= (n.546-4G=)
c.678-4G= (n.678-4G=)
c.660-4G= (n.660-4G=)
3g.46898658G>TCA2739834376PTH1Rc.639-4G>T (n.639-4G>T)
n.659-4G>T
c.546-4G>T (n.546-4G>T)
c.678-4G>T (n.678-4G>T)
c.660-4G>T (n.660-4G>T)
3g.46898659C>ACA2665482402PTH1Rc.639-3C>A (n.639-3C>A)
n.659-3C>A
c.546-3C>A (n.546-3C>A)
c.678-3C>A (n.678-3C>A)
c.660-3C>A (n.660-3C>A)
 gnomAD v4
3g.46898659C=CA1362310739PTH1Rc.639-3C= (n.639-3C=)
n.659-3C=
c.546-3C= (n.546-3C=)
c.678-3C= (n.678-3C=)
c.660-3C= (n.660-3C=)
3g.46898659C>TCA543041987PTH1Rc.639-3C>T (n.639-3C>T)
n.659-3C>T
c.546-3C>T (n.546-3C>T)
c.678-3C>T (n.678-3C>T)
c.660-3C>T (n.660-3C>T)
 dbSNP gnomAD v2
3g.46898660A>CCA352495913PTH1Rc.639-2A>C (n.639-2A>C)
n.659-2A>C
c.546-2A>C (n.546-2A>C)
c.678-2A>C (n.678-2A>C)
c.660-2A>C (n.660-2A>C)
3g.46898660A>GCA352495916PTH1Rc.639-2A>G (n.639-2A>G)
n.659-2A>G
c.546-2A>G (n.546-2A>G)
c.678-2A>G (n.678-2A>G)
c.660-2A>G (n.660-2A>G)
 ClinVar dbSNP gnomAD v4
3g.46898660A>TCA352495918PTH1Rc.639-2A>T (n.639-2A>T)
n.659-2A>T
c.546-2A>T (n.546-2A>T)
c.678-2A>T (n.678-2A>T)
c.660-2A>T (n.660-2A>T)
3g.46898661G>ACA352495920PTH1Rc.639-1G>A (n.639-1G>A)
n.659-1G>A
c.546-1G>A (n.546-1G>A)
c.678-1G>A (n.678-1G>A)
c.660-1G>A (n.660-1G>A)
3g.46898661G>CCA352495923PTH1Rc.639-1G>C (n.639-1G>C)
n.659-1G>C
c.546-1G>C (n.546-1G>C)
c.678-1G>C (n.678-1G>C)
c.660-1G>C (n.660-1G>C)
3g.46898661G>TCA352495925PTH1Rc.639-1G>T (n.639-1G>T)
n.659-1G>T
c.546-1G>T (n.546-1G>T)
c.678-1G>T (n.678-1G>T)
c.660-1G>T (n.660-1G>T)
3g.46898662G>ACA433470810PTH1Rc.639G>A (p.Arg213=)
n.659G>A
c.546G>A (p.Arg182=)
c.678G>A (p.Arg226=)
c.660G>A (p.Arg220=)
3g.46898662G>CCA352495927PTH1Rc.639G>C (p.Arg213Ser)
n.659G>C
c.546G>C (p.Arg182Ser)
c.678G>C (p.Arg226Ser)
c.660G>C (p.Arg220Ser)
3g.46898662G=CA1362310743PTH1Rc.639G= (p.Arg213=)
n.659G=
c.546G= (p.Arg182=)
c.678G= (p.Arg226=)
c.660G= (p.Arg220=)
3g.46898662G>TCA352495930PTH1Rc.639G>T (p.Arg213Ser)
n.659G>T
c.546G>T (p.Arg182Ser)
c.678G>T (p.Arg226Ser)
c.660G>T (p.Arg220Ser)
 dbSNP
3g.46898665_46898679dupCA2665482403PTH1Rc.642_656dup (p.Arg219_Asn220insLeuHisCysThrArg)
n.662_676dup
c.549_563dup (p.Arg188_Asn189insLeuHisCysThrArg)
c.681_695dup (p.Arg232_Asn233insLeuHisCysThrArg)
c.663_677dup (p.Arg226_Asn227insLeuHisCysThrArg)
 gnomAD v4
3g.46898663C>ACA433470820PTH1Rc.640C>A (p.Arg214=)
n.660C>A
c.547C>A (p.Arg183=)
c.679C>A (p.Arg227=)
c.661C>A (p.Arg221=)
 gnomAD v4
3g.46898663C=CA1362310746PTH1Rc.640C= (p.Arg214=)
n.660C=
c.547C= (p.Arg183=)
c.679C= (p.Arg227=)
c.661C= (p.Arg221=)
3g.46898663C>GCA352495934PTH1Rc.640C>G (p.Arg214Gly)
n.660C>G
c.547C>G (p.Arg183Gly)
c.679C>G (p.Arg227Gly)
c.661C>G (p.Arg221Gly)
3g.46898663C>TCA352495932PTH1Rc.640C>T (p.Arg214Trp)
n.660C>T
c.547C>T (p.Arg183Trp)
c.679C>T (p.Arg227Trp)
c.661C>T (p.Arg221Trp)
 dbSNP gnomAD v2 gnomAD v4
3g.46898664G>ACA352495935PTH1Rc.641G>A (p.Arg214Gln)
n.661G>A
c.548G>A (p.Arg183Gln)
c.680G>A (p.Arg227Gln)
c.662G>A (p.Arg221Gln)
 dbSNP
3g.46898664G>CCA352495938PTH1Rc.641G>C (p.Arg214Pro)
n.661G>C
c.548G>C (p.Arg183Pro)
c.680G>C (p.Arg227Pro)
c.662G>C (p.Arg221Pro)
3g.46898664G=CA1362310749PTH1Rc.641G= (p.Arg214=)
n.661G=
c.548G= (p.Arg183=)
c.680G= (p.Arg227=)
c.662G= (p.Arg221=)
3g.46898664G>TCA352495940PTH1Rc.641G>T (p.Arg214Leu)
n.661G>T
c.548G>T (p.Arg183Leu)
c.680G>T (p.Arg227Leu)
c.662G>T (p.Arg221Leu)
 gnomAD v4
3g.46898665G>ACA433470830PTH1Rc.642G>A (p.Arg214=)
n.662G>A
c.549G>A (p.Arg183=)
c.681G>A (p.Arg227=)
c.663G>A (p.Arg221=)
 gnomAD v4
3g.46898665G>CCA433470842PTH1Rc.642G>C (p.Arg214=)
n.662G>C
c.549G>C (p.Arg183=)
c.681G>C (p.Arg227=)
c.663G>C (p.Arg221=)
 dbSNP gnomAD v4
3g.46898665G=CA1362310750PTH1Rc.642G= (p.Arg214=)
n.662G=
c.549G= (p.Arg183=)
c.681G= (p.Arg227=)
c.663G= (p.Arg221=)
3g.46898665G>TCA433470845PTH1Rc.642G>T (p.Arg214=)
n.662G>T
c.549G>T (p.Arg183=)
c.681G>T (p.Arg227=)
c.663G>T (p.Arg221=)
3g.46898666C>ACA352495946PTH1Rc.643C>A (p.Leu215Met)
n.663C>A
c.550C>A (p.Leu184Met)
c.682C>A (p.Leu228Met)
c.664C>A (p.Leu222Met)
3g.46898666C=CA1362310756PTH1Rc.643C= (p.Leu215=)
n.663C=
c.550C= (p.Leu184=)
c.682C= (p.Leu228=)
c.664C= (p.Leu222=)
3g.46898666C>GCA352495951PTH1Rc.643C>G (p.Leu215Val)
n.663C>G
c.550C>G (p.Leu184Val)
c.682C>G (p.Leu228Val)
c.664C>G (p.Leu222Val)
3g.46898666C>TCA433470854PTH1Rc.643C>T (p.Leu215=)
n.663C>T
c.550C>T (p.Leu184=)
c.682C>T (p.Leu228=)
c.664C>T (p.Leu222=)
 dbSNP gnomAD v2 gnomAD v4
3g.46898666_46898680dupCA2359289PTH1Rc.643_657dup (p.Arg219_Asn220insLeuHisCysThrArg)
n.663_677dup
c.550_564dup (p.Arg188_Asn189insLeuHisCysThrArg)
c.682_696dup (p.Arg232_Asn233insLeuHisCysThrArg)
c.664_678dup (p.Arg226_Asn227insLeuHisCysThrArg)
 dbSNP ExAC gnomAD v2
3g.46898667T>ACA352495957PTH1Rc.644T>A (p.Leu215Gln)
n.664T>A
c.551T>A (p.Leu184Gln)
c.683T>A (p.Leu228Gln)
c.665T>A (p.Leu222Gln)
3g.46898667T>CCA352495961PTH1Rc.644T>C (p.Leu215Pro)
n.664T>C
c.551T>C (p.Leu184Pro)
c.683T>C (p.Leu228Pro)
c.665T>C (p.Leu222Pro)
3g.46898667T>GCA352495964PTH1Rc.644T>G (p.Leu215Arg)
n.664T>G
c.551T>G (p.Leu184Arg)
c.683T>G (p.Leu228Arg)
c.665T>G (p.Leu222Arg)
3g.46898668G>ACA433470876PTH1Rc.645G>A (p.Leu215=)
n.665G>A
c.552G>A (p.Leu184=)
c.684G>A (p.Leu228=)
c.666G>A (p.Leu222=)
 gnomAD v4
3g.46898668G>CCA433470881PTH1Rc.645G>C (p.Leu215=)
n.665G>C
c.552G>C (p.Leu184=)
c.684G>C (p.Leu228=)
c.666G>C (p.Leu222=)
3g.46898668G=CA1362310760PTH1Rc.645G= (p.Leu215=)
n.665G=
c.552G= (p.Leu184=)
c.684G= (p.Leu228=)
c.666G= (p.Leu222=)
3g.46898668G>TCA247963PTH1Rc.645G>T (p.Leu215=)
n.665G>T
c.552G>T (p.Leu184=)
c.684G>T (p.Leu228=)
c.666G>T (p.Leu222=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46898669C>ACA352495970PTH1Rc.646C>A (p.His216Asn)
n.666C>A
c.553C>A (p.His185Asn)
c.685C>A (p.His229Asn)
c.667C>A (p.His223Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46898669C=CA1362310766PTH1Rc.646C= (p.His216=)
n.666C=
c.553C= (p.His185=)
c.685C= (p.His229=)
c.667C= (p.His223=)
3g.46898669C>GCA352495972PTH1Rc.646C>G (p.His216Asp)
n.666C>G
c.553C>G (p.His185Asp)
c.685C>G (p.His229Asp)
c.667C>G (p.His223Asp)
3g.46898669C>TCA352495976PTH1Rc.646C>T (p.His216Tyr)
n.666C>T
c.553C>T (p.His185Tyr)
c.685C>T (p.His229Tyr)
c.667C>T (p.His223Tyr)
 dbSNP gnomAD v4
3g.46898670A=CA1362310769PTH1Rc.647A= (p.His216=)
n.667A=
c.554A= (p.His185=)
c.686A= (p.His229=)
c.668A= (p.His223=)
3g.46898670A>CCA352495983PTH1Rc.647A>C (p.His216Pro)
n.667A>C
c.554A>C (p.His185Pro)
c.686A>C (p.His229Pro)
c.668A>C (p.His223Pro)
 dbSNP gnomAD v3 gnomAD v4
3g.46898670A>GCA2359290PTH1Rc.647A>G (p.His216Arg)
n.667A>G
c.554A>G (p.His185Arg)
c.686A>G (p.His229Arg)
c.668A>G (p.His223Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898670A>TCA352495980PTH1Rc.647A>T (p.His216Leu)
n.667A>T
c.554A>T (p.His185Leu)
c.686A>T (p.His229Leu)
c.668A>T (p.His223Leu)
 gnomAD v4
3g.46898671C>ACA352495989PTH1Rc.648C>A (p.His216Gln)
n.668C>A
c.555C>A (p.His185Gln)
c.687C>A (p.His229Gln)
c.669C>A (p.His223Gln)
3g.46898671C>GCA352495991PTH1Rc.648C>G (p.His216Gln)
n.668C>G
c.555C>G (p.His185Gln)
c.687C>G (p.His229Gln)
c.669C>G (p.His223Gln)
3g.46898671C>TCA433470903PTH1Rc.648C>T (p.His216=)
n.668C>T
c.555C>T (p.His185=)
c.687C>T (p.His229=)
c.669C>T (p.His223=)
3g.46898672T>ACA352495996PTH1Rc.649T>A (p.Cys217Ser)
n.669T>A
c.556T>A (p.Cys186Ser)
c.688T>A (p.Cys230Ser)
c.670T>A (p.Cys224Ser)
3g.46898672T>CCA352495999PTH1Rc.649T>C (p.Cys217Arg)
n.669T>C
c.556T>C (p.Cys186Arg)
c.688T>C (p.Cys230Arg)
c.670T>C (p.Cys224Arg)
 ClinVar dbSNP
3g.46898672T>GCA352496005PTH1Rc.649T>G (p.Cys217Gly)
n.669T>G
c.556T>G (p.Cys186Gly)
c.688T>G (p.Cys230Gly)
c.670T>G (p.Cys224Gly)
3g.46898673G>ACA352496016PTH1Rc.650G>A (p.Cys217Tyr)
n.670G>A
c.557G>A (p.Cys186Tyr)
c.689G>A (p.Cys230Tyr)
c.671G>A (p.Cys224Tyr)
3g.46898673G>CCA352496010PTH1Rc.650G>C (p.Cys217Ser)
n.670G>C
c.557G>C (p.Cys186Ser)
c.689G>C (p.Cys230Ser)
c.671G>C (p.Cys224Ser)
 dbSNP gnomAD v2
3g.46898673G=CA1362310771PTH1Rc.650G= (p.Cys217=)
n.670G=
c.557G= (p.Cys186=)
c.689G= (p.Cys230=)
c.671G= (p.Cys224=)
3g.46898673G>TCA352496013PTH1Rc.650G>T (p.Cys217Phe)
n.670G>T
c.557G>T (p.Cys186Phe)
c.689G>T (p.Cys230Phe)
c.671G>T (p.Cys224Phe)
3g.46898674C>ACA352496020PTH1Rc.651C>A (p.Cys217Ter)
n.671C>A
c.558C>A (p.Cys186Ter)
c.690C>A (p.Cys230Ter)
c.672C>A (p.Cys224Ter)
3g.46898674C=CA1362310774PTH1Rc.651C= (p.Cys217=)
n.671C=
c.558C= (p.Cys186=)
c.690C= (p.Cys230=)
c.672C= (p.Cys224=)
3g.46898674C>GCA352496025PTH1Rc.651C>G (p.Cys217Trp)
n.671C>G
c.558C>G (p.Cys186Trp)
c.690C>G (p.Cys230Trp)
c.672C>G (p.Cys224Trp)
3g.46898674C>TCA433470934PTH1Rc.651C>T (p.Cys217=)
n.671C>T
c.558C>T (p.Cys186=)
c.690C>T (p.Cys230=)
c.672C>T (p.Cys224=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46898675A=CA1362310776PTH1Rc.652A= (p.Thr218=)
n.672A=
c.559A= (p.Thr187=)
c.691A= (p.Thr231=)
c.673A= (p.Thr225=)
3g.46898675A>CCA352496028PTH1Rc.652A>C (p.Thr218Pro)
n.672A>C
c.559A>C (p.Thr187Pro)
c.691A>C (p.Thr231Pro)
c.673A>C (p.Thr225Pro)
 dbSNP gnomAD v3 gnomAD v4
3g.46898675A>GCA352496031PTH1Rc.652A>G (p.Thr218Ala)
n.672A>G
c.559A>G (p.Thr187Ala)
c.691A>G (p.Thr231Ala)
c.673A>G (p.Thr225Ala)
 gnomAD v4
3g.46898675A>TCA352496033PTH1Rc.652A>T (p.Thr218Ser)
n.672A>T
c.559A>T (p.Thr187Ser)
c.691A>T (p.Thr231Ser)
c.673A>T (p.Thr225Ser)
3g.46898676C>ACA352496048PTH1Rc.653C>A (p.Thr218Lys)
n.673C>A
c.560C>A (p.Thr187Lys)
c.692C>A (p.Thr231Lys)
c.674C>A (p.Thr225Lys)
3g.46898676C>GCA352496045PTH1Rc.653C>G (p.Thr218Arg)
n.673C>G
c.560C>G (p.Thr187Arg)
c.692C>G (p.Thr231Arg)
c.674C>G (p.Thr225Arg)
 gnomAD v4
3g.46898676C>TCA352496040PTH1Rc.653C>T (p.Thr218Met)
n.673C>T
c.560C>T (p.Thr187Met)
c.692C>T (p.Thr231Met)
c.674C>T (p.Thr225Met)
 gnomAD v4
3g.46898677G>ACA433470962PTH1Rc.654G>A (p.Thr218=)
n.674G>A
c.561G>A (p.Thr187=)
c.693G>A (p.Thr231=)
c.675G>A (p.Thr225=)
 dbSNP gnomAD v2 gnomAD v4
3g.46898677G>CCA433470966PTH1Rc.654G>C (p.Thr218=)
n.674G>C
c.561G>C (p.Thr187=)
c.693G>C (p.Thr231=)
c.675G>C (p.Thr225=)
3g.46898677G=CA1362310780PTH1Rc.654G= (p.Thr218=)
n.674G=
c.561G= (p.Thr187=)
c.693G= (p.Thr231=)
c.675G= (p.Thr225=)
3g.46898677G>TCA433470968PTH1Rc.654G>T (p.Thr218=)
n.674G>T
c.561G>T (p.Thr187=)
c.693G>T (p.Thr231=)
c.675G>T (p.Thr225=)
 gnomAD v4
3g.46898678C>ACA352496051PTH1Rc.655C>A (p.Arg219Ser)
n.675C>A
c.562C>A (p.Arg188Ser)
c.694C>A (p.Arg232Ser)
c.676C>A (p.Arg226Ser)
 gnomAD v4
3g.46898678C=CA1362310783PTH1Rc.655C= (p.Arg219=)
n.675C=
c.562C= (p.Arg188=)
c.694C= (p.Arg232=)
c.676C= (p.Arg226=)
3g.46898678C>GCA352496058PTH1Rc.655C>G (p.Arg219Gly)
n.675C>G
c.562C>G (p.Arg188Gly)
c.694C>G (p.Arg232Gly)
c.676C>G (p.Arg226Gly)
3g.46898678C>TCA352496055PTH1Rc.655C>T (p.Arg219Cys)
n.675C>T
c.562C>T (p.Arg188Cys)
c.694C>T (p.Arg232Cys)
c.676C>T (p.Arg226Cys)
 dbSNP gnomAD v2 gnomAD v4
3g.46898679G>ACA352496063PTH1Rc.656G>A (p.Arg219His)
n.676G>A
c.563G>A (p.Arg188His)
c.695G>A (p.Arg232His)
c.677G>A (p.Arg226His)
3g.46898679G>CCA352496069PTH1Rc.656G>C (p.Arg219Pro)
n.676G>C
c.563G>C (p.Arg188Pro)
c.695G>C (p.Arg232Pro)
c.677G>C (p.Arg226Pro)
 gnomAD v4
3g.46898679G=CA1362310785PTH1Rc.656G= (p.Arg219=)
n.676G=
c.563G= (p.Arg188=)
c.695G= (p.Arg232=)
c.677G= (p.Arg226=)
3g.46898679G>TCA2359291PTH1Rc.656G>T (p.Arg219Leu)
n.676G>T
c.563G>T (p.Arg188Leu)
c.695G>T (p.Arg232Leu)
c.677G>T (p.Arg226Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898680C>ACA433470989PTH1Rc.657C>A (p.Arg219=)
n.677C>A
c.564C>A (p.Arg188=)
c.696C>A (p.Arg232=)
c.678C>A (p.Arg226=)
3g.46898680C>GCA433470990PTH1Rc.657C>G (p.Arg219=)
n.677C>G
c.564C>G (p.Arg188=)
c.696C>G (p.Arg232=)
c.678C>G (p.Arg226=)
3g.46898680C>TCA433470992PTH1Rc.657C>T (p.Arg219=)
n.677C>T
c.564C>T (p.Arg188=)
c.696C>T (p.Arg232=)
c.678C>T (p.Arg226=)
3g.46898681A=CA1362310788PTH1Rc.658A= (p.Asn220=)
n.678A=
c.565A= (p.Asn189=)
c.697A= (p.Asn233=)
c.679A= (p.Asn227=)
3g.46898681A>CCA352496074PTH1Rc.658A>C (p.Asn220His)
n.678A>C
c.565A>C (p.Asn189His)
c.697A>C (p.Asn233His)
c.679A>C (p.Asn227His)
 dbSNP
3g.46898681A>GCA352496078PTH1Rc.658A>G (p.Asn220Asp)
n.678A>G
c.565A>G (p.Asn189Asp)
c.697A>G (p.Asn233Asp)
c.679A>G (p.Asn227Asp)
3g.46898681A>TCA352496076PTH1Rc.658A>T (p.Asn220Tyr)
n.678A>T
c.565A>T (p.Asn189Tyr)
c.697A>T (p.Asn233Tyr)
c.679A>T (p.Asn227Tyr)
3g.46898682A=CA1362310790PTH1Rc.659A= (p.Asn220=)
n.679A=
c.566A= (p.Asn189=)
c.698A= (p.Asn233=)
c.680A= (p.Asn227=)
3g.46898682A>CCA352496083PTH1Rc.659A>C (p.Asn220Thr)
n.679A>C
c.566A>C (p.Asn189Thr)
c.698A>C (p.Asn233Thr)
c.680A>C (p.Asn227Thr)
3g.46898682A>GCA352496086PTH1Rc.659A>G (p.Asn220Ser)
n.679A>G
c.566A>G (p.Asn189Ser)
c.698A>G (p.Asn233Ser)
c.680A>G (p.Asn227Ser)
 dbSNP
3g.46898682A>TCA352496088PTH1Rc.659A>T (p.Asn220Ile)
n.679A>T
c.566A>T (p.Asn189Ile)
c.698A>T (p.Asn233Ile)
c.680A>T (p.Asn227Ile)
3g.46898683C>ACA352496095PTH1Rc.660C>A (p.Asn220Lys)
n.680C>A
c.567C>A (p.Asn189Lys)
c.699C>A (p.Asn233Lys)
c.681C>A (p.Asn227Lys)
3g.46898683C>GCA352496098PTH1Rc.660C>G (p.Asn220Lys)
n.680C>G
c.567C>G (p.Asn189Lys)
c.699C>G (p.Asn233Lys)
c.681C>G (p.Asn227Lys)
3g.46898683C>TCA433471016PTH1Rc.660C>T (p.Asn220=)
n.680C>T
c.567C>T (p.Asn189=)
c.699C>T (p.Asn233=)
c.681C>T (p.Asn227=)
3g.46898684T>ACA352496101PTH1Rc.661T>A (p.Tyr221Asn)
n.681T>A
c.568T>A (p.Tyr190Asn)
c.700T>A (p.Tyr234Asn)
c.682T>A (p.Tyr228Asn)
3g.46898684T>CCA352496104PTH1Rc.661T>C (p.Tyr221His)
n.681T>C
c.568T>C (p.Tyr190His)
c.700T>C (p.Tyr234His)
c.682T>C (p.Tyr228His)
3g.46898684T>GCA352496109PTH1Rc.661T>G (p.Tyr221Asp)
n.681T>G
c.568T>G (p.Tyr190Asp)
c.700T>G (p.Tyr234Asp)
c.682T>G (p.Tyr228Asp)
3g.46898685A=CA1362310795PTH1Rc.662A= (p.Tyr221=)
n.682A=
c.569A= (p.Tyr190=)
c.701A= (p.Tyr234=)
c.683A= (p.Tyr228=)
3g.46898685A>CCA352496114PTH1Rc.662A>C (p.Tyr221Ser)
n.682A>C
c.569A>C (p.Tyr190Ser)
c.701A>C (p.Tyr234Ser)
c.683A>C (p.Tyr228Ser)
3g.46898685A>GCA2359292PTH1Rc.662A>G (p.Tyr221Cys)
n.682A>G
c.569A>G (p.Tyr190Cys)
c.701A>G (p.Tyr234Cys)
c.683A>G (p.Tyr228Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46898685A>TCA352496123PTH1Rc.662A>T (p.Tyr221Phe)
n.682A>T
c.569A>T (p.Tyr190Phe)
c.701A>T (p.Tyr234Phe)
c.683A>T (p.Tyr228Phe)
3g.46898686C>ACA352496136PTH1Rc.663C>A (p.Tyr221Ter)
n.683C>A
c.570C>A (p.Tyr190Ter)
c.702C>A (p.Tyr234Ter)
c.684C>A (p.Tyr228Ter)
3g.46898686C>GCA352496126PTH1Rc.663C>G (p.Tyr221Ter)
n.683C>G
c.570C>G (p.Tyr190Ter)
c.702C>G (p.Tyr234Ter)
c.684C>G (p.Tyr228Ter)
3g.46898686C>TCA433471051PTH1Rc.663C>T (p.Tyr221=)
n.683C>T
c.570C>T (p.Tyr190=)
c.702C>T (p.Tyr234=)
c.684C>T (p.Tyr228=)
3g.46898687A>CCA352496140PTH1Rc.664A>C (p.Ile222Leu)
n.684A>C
c.571A>C (p.Ile191Leu)
c.703A>C (p.Ile235Leu)
c.685A>C (p.Ile229Leu)
3g.46898687A>GCA352496144PTH1Rc.664A>G (p.Ile222Val)
n.684A>G
c.571A>G (p.Ile191Val)
c.703A>G (p.Ile235Val)
c.685A>G (p.Ile229Val)
3g.46898687A>TCA352496147PTH1Rc.664A>T (p.Ile222Phe)
n.684A>T
c.571A>T (p.Ile191Phe)
c.703A>T (p.Ile235Phe)
c.685A>T (p.Ile229Phe)
3g.46898688T>ACA352496157PTH1Rc.665T>A (p.Ile222Asn)
n.685T>A
c.572T>A (p.Ile191Asn)
c.704T>A (p.Ile235Asn)
c.686T>A (p.Ile229Asn)
 gnomAD v4
3g.46898688T>CCA352496159PTH1Rc.665T>C (p.Ile222Thr)
n.685T>C
c.572T>C (p.Ile191Thr)
c.704T>C (p.Ile235Thr)
c.686T>C (p.Ile229Thr)
3g.46898688T>GCA352496161PTH1Rc.665T>G (p.Ile222Ser)
n.685T>G
c.572T>G (p.Ile191Ser)
c.704T>G (p.Ile235Ser)
c.686T>G (p.Ile229Ser)
3g.46898689C>ACA433471079PTH1Rc.666C>A (p.Ile222=)
n.686C>A
c.573C>A (p.Ile191=)
c.705C>A (p.Ile235=)
c.687C>A (p.Ile229=)
3g.46898689C=CA1362310800PTH1Rc.666C= (p.Ile222=)
n.686C=
c.573C= (p.Ile191=)
c.705C= (p.Ile235=)
c.687C= (p.Ile229=)
3g.46898689C>GCA352496165PTH1Rc.666C>G (p.Ile222Met)
n.686C>G
c.573C>G (p.Ile191Met)
c.705C>G (p.Ile235Met)
c.687C>G (p.Ile229Met)
3g.46898689C>TCA433471082PTH1Rc.666C>T (p.Ile222=)
n.686C>T
c.573C>T (p.Ile191=)
c.705C>T (p.Ile235=)
c.687C>T (p.Ile229=)
 dbSNP gnomAD v2 gnomAD v4
3g.46898690C>ACA352496169PTH1Rc.667C>A (p.His223Asn)
n.687C>A
c.574C>A (p.His192Asn)
c.706C>A (p.His236Asn)
c.688C>A (p.His230Asn)
3g.46898690C=CA1362310804PTH1Rc.667C= (p.His223=)
n.687C=
c.574C= (p.His192=)
c.706C= (p.His236=)
c.688C= (p.His230=)
3g.46898690C>GCA352496172PTH1Rc.667C>G (p.His223Asp)
n.687C>G
c.574C>G (p.His192Asp)
c.706C>G (p.His236Asp)
c.688C>G (p.His230Asp)
3g.46898690C>TCA73769848PTH1Rc.667C>T (p.His223Tyr)
n.687C>T
c.574C>T (p.His192Tyr)
c.706C>T (p.His236Tyr)
c.688C>T (p.His230Tyr)
 dbSNP
3g.46898691A=CA1362310810PTH1Rc.668A= (p.His223=)
n.688A=
c.575A= (p.His192=)
c.707A= (p.His236=)
c.689A= (p.His230=)
3g.46898691A>CCA352496179PTH1Rc.668A>C (p.His223Pro)
n.688A>C
c.575A>C (p.His192Pro)
c.707A>C (p.His236Pro)
c.689A>C (p.His230Pro)
3g.46898691A>GCA123421PTH1Rc.668A>G (p.His223Arg)
n.688A>G
c.575A>G (p.His192Arg)
c.707A>G (p.His236Arg)
c.689A>G (p.His230Arg)
 ClinVar dbSNP
3g.46898691A>TCA352496176PTH1Rc.668A>T (p.His223Leu)
n.688A>T
c.575A>T (p.His192Leu)
c.707A>T (p.His236Leu)
c.689A>T (p.His230Leu)
3g.46898692C>ACA352496188PTH1Rc.669C>A (p.His223Gln)
n.689C>A
c.576C>A (p.His192Gln)
c.708C>A (p.His236Gln)
c.690C>A (p.His230Gln)
3g.46898692C=CA1362310812PTH1Rc.669C= (p.His223=)
n.689C=
c.576C= (p.His192=)
c.708C= (p.His236=)
c.690C= (p.His230=)
3g.46898692C>GCA352496191PTH1Rc.669C>G (p.His223Gln)
n.689C>G
c.576C>G (p.His192Gln)
c.708C>G (p.His236Gln)
c.690C>G (p.His230Gln)
3g.46898692C>TCA433471111PTH1Rc.669C>T (p.His223=)
n.689C>T
c.576C>T (p.His192=)
c.708C>T (p.His236=)
c.690C>T (p.His230=)
 dbSNP gnomAD v4
3g.46898693A=CA1362310816PTH1Rc.670A= (p.Met224=)
n.690A=
c.577A= (p.Met193=)
c.709A= (p.Met237=)
c.691A= (p.Met231=)
3g.46898693A>CCA352496192PTH1Rc.670A>C (p.Met224Leu)
n.690A>C
c.577A>C (p.Met193Leu)
c.709A>C (p.Met237Leu)
c.691A>C (p.Met231Leu)
3g.46898693A>GCA2359293PTH1Rc.670A>G (p.Met224Val)
n.690A>G
c.577A>G (p.Met193Val)
c.709A>G (p.Met237Val)
c.691A>G (p.Met231Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898693A>TCA2359294PTH1Rc.670A>T (p.Met224Leu)
n.690A>T
c.577A>T (p.Met193Leu)
c.709A>T (p.Met237Leu)
c.691A>T (p.Met231Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898694T>ACA352496220PTH1Rc.671T>A (p.Met224Lys)
n.691T>A
c.578T>A (p.Met193Lys)
c.710T>A (p.Met237Lys)
c.692T>A (p.Met231Lys)
3g.46898694T>CCA73769860PTH1Rc.671T>C (p.Met224Thr)
n.691T>C
c.578T>C (p.Met193Thr)
c.710T>C (p.Met237Thr)
c.692T>C (p.Met231Thr)
 dbSNP gnomAD v4
3g.46898694T>GCA352496228PTH1Rc.671T>G (p.Met224Arg)
n.691T>G
c.578T>G (p.Met193Arg)
c.710T>G (p.Met237Arg)
c.692T>G (p.Met231Arg)
3g.46898694T=CA1362310820PTH1Rc.671T= (p.Met224=)
n.691T=
c.578T= (p.Met193=)
c.710T= (p.Met237=)
c.692T= (p.Met231=)
3g.46898695G>ACA352496235PTH1Rc.672G>A (p.Met224Ile)
n.692G>A
c.579G>A (p.Met193Ile)
c.711G>A (p.Met237Ile)
c.693G>A (p.Met231Ile)
3g.46898695G>CCA352496239PTH1Rc.672G>C (p.Met224Ile)
n.692G>C
c.579G>C (p.Met193Ile)
c.711G>C (p.Met237Ile)
c.693G>C (p.Met231Ile)
3g.46898695G>TCA352496245PTH1Rc.672G>T (p.Met224Ile)
n.692G>T
c.579G>T (p.Met193Ile)
c.711G>T (p.Met237Ile)
c.693G>T (p.Met231Ile)
3g.46898697_46898722dupCA2665482404PTH1Rc.674_699dup (p.Ala234ThrfsTer11)
n.694_719dup
c.581_606dup (p.Ala203ThrfsTer11)
c.713_738dup (p.Ala247ThrfsTer11)
c.695_720dup (p.Ala241ThrfsTer11)
 gnomAD v4
3g.46898696C>ACA352496254PTH1Rc.673C>A (p.His225Asn)
n.693C>A
c.580C>A (p.His194Asn)
c.712C>A (p.His238Asn)
c.694C>A (p.His232Asn)
 gnomAD v4
3g.46898696C=CA1362310824PTH1Rc.673C= (p.His225=)
n.693C=
c.580C= (p.His194=)
c.712C= (p.His238=)
c.694C= (p.His232=)
3g.46898696C>GCA352496252PTH1Rc.673C>G (p.His225Asp)
n.693C>G
c.580C>G (p.His194Asp)
c.712C>G (p.His238Asp)
c.694C>G (p.His232Asp)
3g.46898696C>TCA2359295PTH1Rc.673C>T (p.His225Tyr)
n.693C>T
c.580C>T (p.His194Tyr)
c.712C>T (p.His238Tyr)
c.694C>T (p.His232Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898697A=CA1362310828PTH1Rc.674A= (p.His225=)
n.694A=
c.581A= (p.His194=)
c.713A= (p.His238=)
c.695A= (p.His232=)
3g.46898697A>CCA352496266PTH1Rc.674A>C (p.His225Pro)
n.694A>C
c.581A>C (p.His194Pro)
c.713A>C (p.His238Pro)
c.695A>C (p.His232Pro)
3g.46898697A>GCA352496291PTH1Rc.674A>G (p.His225Arg)
n.694A>G
c.581A>G (p.His194Arg)
c.713A>G (p.His238Arg)
c.695A>G (p.His232Arg)
 dbSNP gnomAD v3 gnomAD v4
3g.46898697A>TCA352496296PTH1Rc.674A>T (p.His225Leu)
n.694A>T
c.581A>T (p.His194Leu)
c.713A>T (p.His238Leu)
c.695A>T (p.His232Leu)
3g.46898698C>ACA352496297PTH1Rc.675C>A (p.His225Gln)
n.695C>A
c.582C>A (p.His194Gln)
c.714C>A (p.His238Gln)
c.696C>A (p.His232Gln)
 gnomAD v4
3g.46898698C=CA1362310832PTH1Rc.675C= (p.His225=)
n.695C=
c.582C= (p.His194=)
c.714C= (p.His238=)
c.696C= (p.His232=)
3g.46898698C>GCA352496298PTH1Rc.675C>G (p.His225Gln)
n.695C>G
c.582C>G (p.His194Gln)
c.714C>G (p.His238Gln)
c.696C>G (p.His232Gln)
3g.46898698C>TCA2359296PTH1Rc.675C>T (p.His225=)
n.695C>T
c.582C>T (p.His194=)
c.714C>T (p.His238=)
c.696C>T (p.His232=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46898699C>ACA352496307PTH1Rc.676C>A (p.Leu226Met)
n.696C>A
c.583C>A (p.Leu195Met)
c.715C>A (p.Leu239Met)
c.697C>A (p.Leu233Met)
3g.46898699C=CA1362310834PTH1Rc.676C= (p.Leu226=)
n.696C=
c.583C= (p.Leu195=)
c.715C= (p.Leu239=)
c.697C= (p.Leu233=)
3g.46898699C>GCA352496308PTH1Rc.676C>G (p.Leu226Val)
n.696C>G
c.583C>G (p.Leu195Val)
c.715C>G (p.Leu239Val)
c.697C>G (p.Leu233Val)
3g.46898699C>TCA433471176PTH1Rc.676C>T (p.Leu226=)
n.696C>T
c.583C>T (p.Leu195=)
c.715C>T (p.Leu239=)
c.697C>T (p.Leu233=)
 dbSNP gnomAD v2
3g.46898700T>ACA352496312PTH1Rc.677T>A (p.Leu226Gln)
n.697T>A
c.584T>A (p.Leu195Gln)
c.716T>A (p.Leu239Gln)
c.698T>A (p.Leu233Gln)
3g.46898700T>CCA352496316PTH1Rc.677T>C (p.Leu226Pro)
n.697T>C
c.584T>C (p.Leu195Pro)
c.716T>C (p.Leu239Pro)
c.698T>C (p.Leu233Pro)
3g.46898700T>GCA352496321PTH1Rc.677T>G (p.Leu226Arg)
n.697T>G
c.584T>G (p.Leu195Arg)
c.716T>G (p.Leu239Arg)
c.698T>G (p.Leu233Arg)
 dbSNP gnomAD v2
3g.46898700T=CA1362310837PTH1Rc.677T= (p.Leu226=)
n.697T=
c.584T= (p.Leu195=)
c.716T= (p.Leu239=)
c.698T= (p.Leu233=)
3g.46898701G>ACA433471192PTH1Rc.678G>A (p.Leu226=)
n.698G>A
c.585G>A (p.Leu195=)
c.717G>A (p.Leu239=)
c.699G>A (p.Leu233=)
3g.46898701G>CCA433471197PTH1Rc.678G>C (p.Leu226=)
n.698G>C
c.585G>C (p.Leu195=)
c.717G>C (p.Leu239=)
c.699G>C (p.Leu233=)
3g.46898701G=CA1362310841PTH1Rc.678G= (p.Leu226=)
n.698G=
c.585G= (p.Leu195=)
c.717G= (p.Leu239=)
c.699G= (p.Leu233=)
3g.46898701G>TCA216064PTH1Rc.678G>T (p.Leu226=)
n.698G>T
c.585G>T (p.Leu195=)
c.717G>T (p.Leu239=)
c.699G>T (p.Leu233=)
 ClinVar dbSNP
3g.46898702T>ACA352496339PTH1Rc.679T>A (p.Phe227Ile)
n.699T>A
c.586T>A (p.Phe196Ile)
c.718T>A (p.Phe240Ile)
c.700T>A (p.Phe234Ile)
3g.46898702T>CCA352496343PTH1Rc.679T>C (p.Phe227Leu)
n.699T>C
c.586T>C (p.Phe196Leu)
c.718T>C (p.Phe240Leu)
c.700T>C (p.Phe234Leu)
3g.46898702T>GCA352496333PTH1Rc.679T>G (p.Phe227Val)
n.699T>G
c.586T>G (p.Phe196Val)
c.718T>G (p.Phe240Val)
c.700T>G (p.Phe234Val)
3g.46898703T>ACA352496355PTH1Rc.680T>A (p.Phe227Tyr)
n.700T>A
c.587T>A (p.Phe196Tyr)
c.719T>A (p.Phe240Tyr)
c.701T>A (p.Phe234Tyr)
3g.46898703T>CCA352496348PTH1Rc.680T>C (p.Phe227Ser)
n.700T>C
c.587T>C (p.Phe196Ser)
c.719T>C (p.Phe240Ser)
c.701T>C (p.Phe234Ser)
3g.46898703T>GCA352496352PTH1Rc.680T>G (p.Phe227Cys)
n.700T>G
c.587T>G (p.Phe196Cys)
c.719T>G (p.Phe240Cys)
c.701T>G (p.Phe234Cys)
3g.46898703_46898704delinsTCCA1362310845PTH1Rc.680_681delinsTC (p.Phe227=)
n.700_701delinsTC
c.587_588delinsTC (p.Phe196=)
c.719_720delinsTC (p.Phe240=)
c.701_702delinsTC (p.Phe234=)
3g.46898704C>ACA352496356PTH1Rc.681C>A (p.Phe227Leu)
n.701C>A
c.588C>A (p.Phe196Leu)
c.720C>A (p.Phe240Leu)
c.702C>A (p.Phe234Leu)
3g.46898704C=CA1362310847PTH1Rc.681C= (p.Phe227=)
n.701C=
c.588C= (p.Phe196=)
c.720C= (p.Phe240=)
c.702C= (p.Phe234=)
3g.46898704C>GCA352496359PTH1Rc.681C>G (p.Phe227Leu)
n.701C>G
c.588C>G (p.Phe196Leu)
c.720C>G (p.Phe240Leu)
c.702C>G (p.Phe234Leu)
3g.46898704C>TCA433471211PTH1Rc.681C>T (p.Phe227=)
n.701C>T
c.588C>T (p.Phe196=)
c.720C>T (p.Phe240=)
c.702C>T (p.Phe234=)
 dbSNP gnomAD v2 gnomAD v4
3g.46898705delCA2359297PTH1Rc.682del (p.Leu228CysfsTer8)
n.702del
c.589del (p.Leu197CysfsTer8)
c.721del (p.Leu241CysfsTer8)
c.703del (p.Leu235CysfsTer8)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46898705C>ACA352496365PTH1Rc.682C>A (p.Leu228Met)
n.702C>A
c.589C>A (p.Leu197Met)
c.721C>A (p.Leu241Met)
c.703C>A (p.Leu235Met)
 gnomAD v4
3g.46898705C=CA1362310854PTH1Rc.682C= (p.Leu228=)
n.702C=
c.589C= (p.Leu197=)
c.721C= (p.Leu241=)
c.703C= (p.Leu235=)
3g.46898705C>GCA352496366PTH1Rc.682C>G (p.Leu228Val)
n.702C>G
c.589C>G (p.Leu197Val)
c.721C>G (p.Leu241Val)
c.703C>G (p.Leu235Val)
 gnomAD v4
3g.46898705C>TCA433471226PTH1Rc.682C>T (p.Leu228=)
n.702C>T
c.589C>T (p.Leu197=)
c.721C>T (p.Leu241=)
c.703C>T (p.Leu235=)
 dbSNP gnomAD v2 gnomAD v4
3g.46898706T>ACA352496367PTH1Rc.683T>A (p.Leu228Gln)
n.703T>A
c.590T>A (p.Leu197Gln)
c.722T>A (p.Leu241Gln)
c.704T>A (p.Leu235Gln)
3g.46898706T>CCA352496370PTH1Rc.683T>C (p.Leu228Pro)
n.703T>C
c.590T>C (p.Leu197Pro)
c.722T>C (p.Leu241Pro)
c.704T>C (p.Leu235Pro)
3g.46898706T>GCA352496373PTH1Rc.683T>G (p.Leu228Arg)
n.703T>G
c.590T>G (p.Leu197Arg)
c.722T>G (p.Leu241Arg)
c.704T>G (p.Leu235Arg)
3g.46898707G>ACA433471239PTH1Rc.684G>A (p.Leu228=)
n.704G>A
c.591G>A (p.Leu197=)
c.723G>A (p.Leu241=)
c.705G>A (p.Leu235=)
3g.46898707G>CCA433471243PTH1Rc.684G>C (p.Leu228=)
n.704G>C
c.591G>C (p.Leu197=)
c.723G>C (p.Leu241=)
c.705G>C (p.Leu235=)
3g.46898707G>TCA433471247PTH1Rc.684G>T (p.Leu228=)
n.704G>T
c.591G>T (p.Leu197=)
c.723G>T (p.Leu241=)
c.705G>T (p.Leu235=)
 gnomAD v4
3g.46898708T>ACA352496380PTH1Rc.685T>A (p.Ser229Thr)
n.705T>A
c.592T>A (p.Ser198Thr)
c.724T>A (p.Ser242Thr)
c.706T>A (p.Ser236Thr)
3g.46898708T>CCA352496398PTH1Rc.685T>C (p.Ser229Pro)
n.705T>C
c.592T>C (p.Ser198Pro)
c.724T>C (p.Ser242Pro)
c.706T>C (p.Ser236Pro)
3g.46898708T>GCA352496402PTH1Rc.685T>G (p.Ser229Ala)
n.705T>G
c.592T>G (p.Ser198Ala)
c.724T>G (p.Ser242Ala)
c.706T>G (p.Ser236Ala)
3g.46898709C>ACA352496417PTH1Rc.686C>A (p.Ser229Tyr)
n.706C>A
c.593C>A (p.Ser198Tyr)
c.725C>A (p.Ser242Tyr)
c.707C>A (p.Ser236Tyr)
 COSMIC
3g.46898709C>GCA352496409PTH1Rc.686C>G (p.Ser229Cys)
n.706C>G
c.593C>G (p.Ser198Cys)
c.725C>G (p.Ser242Cys)
c.707C>G (p.Ser236Cys)
3g.46898709C>TCA352496413PTH1Rc.686C>T (p.Ser229Phe)
n.706C>T
c.593C>T (p.Ser198Phe)
c.725C>T (p.Ser242Phe)
c.707C>T (p.Ser236Phe)
 gnomAD v4
3g.46898709_46898712delinsCCTTCA1362310856PTH1Rc.686_689delinsCCTT (p.Ser229=)
n.706_709delinsCCTT
c.593_596delinsCCTT (p.Ser198=)
c.725_728delinsCCTT (p.Ser242=)
c.707_710delinsCCTT (p.Ser236=)
3g.46898710C>ACA433471273PTH1Rc.687C>A (p.Ser229=)
n.707C>A
c.594C>A (p.Ser198=)
c.726C>A (p.Ser242=)
c.708C>A (p.Ser236=)
3g.46898710C=CA1362310858PTH1Rc.687C= (p.Ser229=)
n.707C=
c.594C= (p.Ser198=)
c.726C= (p.Ser242=)
c.708C= (p.Ser236=)
3g.46898710C>GCA433471276PTH1Rc.687C>G (p.Ser229=)
n.707C>G
c.594C>G (p.Ser198=)
c.726C>G (p.Ser242=)
c.708C>G (p.Ser236=)
3g.46898710C>TCA433471279PTH1Rc.687C>T (p.Ser229=)
n.707C>T
c.594C>T (p.Ser198=)
c.726C>T (p.Ser242=)
c.708C>T (p.Ser236=)
 dbSNP gnomAD v2
3g.46898711_46898713delCA543041988PTH1Rc.688_690del (p.Phe230del)
n.708_710del
c.595_597del (p.Phe199del)
c.727_729del (p.Phe243del)
c.709_711del (p.Phe237del)
 dbSNP gnomAD v2 gnomAD v4
3g.46898711T>ACA352496425PTH1Rc.688T>A (p.Phe230Ile)
n.708T>A
c.595T>A (p.Phe199Ile)
c.727T>A (p.Phe243Ile)
c.709T>A (p.Phe237Ile)
3g.46898711T>CCA352496430PTH1Rc.688T>C (p.Phe230Leu)
n.708T>C
c.595T>C (p.Phe199Leu)
c.727T>C (p.Phe243Leu)
c.709T>C (p.Phe237Leu)
3g.46898711T>GCA352496436PTH1Rc.688T>G (p.Phe230Val)
n.708T>G
c.595T>G (p.Phe199Val)
c.727T>G (p.Phe243Val)
c.709T>G (p.Phe237Val)
3g.46898712T>ACA352496441PTH1Rc.689T>A (p.Phe230Tyr)
n.709T>A
c.596T>A (p.Phe199Tyr)
c.728T>A (p.Phe243Tyr)
c.710T>A (p.Phe237Tyr)
3g.46898712T>CCA352496444PTH1Rc.689T>C (p.Phe230Ser)
n.709T>C
c.596T>C (p.Phe199Ser)
c.728T>C (p.Phe243Ser)
c.710T>C (p.Phe237Ser)
 gnomAD v4
3g.46898712T>GCA352496446PTH1Rc.689T>G (p.Phe230Cys)
n.709T>G
c.596T>G (p.Phe199Cys)
c.728T>G (p.Phe243Cys)
c.710T>G (p.Phe237Cys)
 gnomAD v4
3g.46898713C>ACA352496449PTH1Rc.690C>A (p.Phe230Leu)
n.710C>A
c.597C>A (p.Phe199Leu)
c.729C>A (p.Phe243Leu)
c.711C>A (p.Phe237Leu)
 gnomAD v4
3g.46898713C=CA1362310861PTH1Rc.690C= (p.Phe230=)
n.710C=
c.597C= (p.Phe199=)
c.729C= (p.Phe243=)
c.711C= (p.Phe237=)
3g.46898713C>GCA352496452PTH1Rc.690C>G (p.Phe230Leu)
n.710C>G
c.597C>G (p.Phe199Leu)
c.729C>G (p.Phe243Leu)
c.711C>G (p.Phe237Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.46898713C>TCA433471295PTH1Rc.690C>T (p.Phe230=)
n.710C>T
c.597C>T (p.Phe199=)
c.729C>T (p.Phe243=)
c.711C>T (p.Phe237=)
3g.46898714A=CA1362310864PTH1Rc.691A= (p.Met231=)
n.711A=
c.598A= (p.Met200=)
c.730A= (p.Met244=)
c.712A= (p.Met238=)
3g.46898714A>CCA352496457PTH1Rc.691A>C (p.Met231Leu)
n.711A>C
c.598A>C (p.Met200Leu)
c.730A>C (p.Met244Leu)
c.712A>C (p.Met238Leu)
3g.46898714A>GCA352496460PTH1Rc.691A>G (p.Met231Val)
n.711A>G
c.598A>G (p.Met200Val)
c.730A>G (p.Met244Val)
c.712A>G (p.Met238Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.46898714A>TCA352496463PTH1Rc.691A>T (p.Met231Leu)
n.711A>T
c.598A>T (p.Met200Leu)
c.730A>T (p.Met244Leu)
c.712A>T (p.Met238Leu)
3g.46898715T>ACA352496481PTH1Rc.692T>A (p.Met231Lys)
n.712T>A
c.599T>A (p.Met200Lys)
c.731T>A (p.Met244Lys)
c.713T>A (p.Met238Lys)
3g.46898715T>CCA352496477PTH1Rc.692T>C (p.Met231Thr)
n.712T>C
c.599T>C (p.Met200Thr)
c.731T>C (p.Met244Thr)
c.713T>C (p.Met238Thr)
3g.46898715T>GCA352496469PTH1Rc.692T>G (p.Met231Arg)
n.712T>G
c.599T>G (p.Met200Arg)
c.731T>G (p.Met244Arg)
c.713T>G (p.Met238Arg)
 gnomAD v4
3g.46898716G>ACA352496492PTH1Rc.693G>A (p.Met231Ile)
n.713G>A
c.600G>A (p.Met200Ile)
c.732G>A (p.Met244Ile)
c.714G>A (p.Met238Ile)
 ClinVar
3g.46898716G>CCA352496495PTH1Rc.693G>C (p.Met231Ile)
n.713G>C
c.600G>C (p.Met200Ile)
c.732G>C (p.Met244Ile)
c.714G>C (p.Met238Ile)
 dbSNP gnomAD v3 gnomAD v4
3g.46898716G=CA1362310868PTH1Rc.693G= (p.Met231=)
n.713G=
c.600G= (p.Met200=)
c.732G= (p.Met244=)
c.714G= (p.Met238=)
3g.46898716G>TCA352496504PTH1Rc.693G>T (p.Met231Ile)
n.713G>T
c.600G>T (p.Met200Ile)
c.732G>T (p.Met244Ile)
c.714G>T (p.Met238Ile)
3g.46898717C>ACA352496508PTH1Rc.694C>A (p.Leu232Met)
n.714C>A
c.601C>A (p.Leu201Met)
c.733C>A (p.Leu245Met)
c.715C>A (p.Leu239Met)
 gnomAD v4
3g.46898717C>GCA352496515PTH1Rc.694C>G (p.Leu232Val)
n.714C>G
c.601C>G (p.Leu201Val)
c.733C>G (p.Leu245Val)
c.715C>G (p.Leu239Val)
3g.46898717C>TCA433471316PTH1Rc.694C>T (p.Leu232=)
n.714C>T
c.601C>T (p.Leu201=)
c.733C>T (p.Leu245=)
c.715C>T (p.Leu239=)
3g.46898718T>ACA352496535PTH1Rc.695T>A (p.Leu232Gln)
n.715T>A
c.602T>A (p.Leu201Gln)
c.734T>A (p.Leu245Gln)
c.716T>A (p.Leu239Gln)
3g.46898718T>CCA352496530PTH1Rc.695T>C (p.Leu232Pro)
n.715T>C
c.602T>C (p.Leu201Pro)
c.734T>C (p.Leu245Pro)
c.716T>C (p.Leu239Pro)
3g.46898718T>GCA352496521PTH1Rc.695T>G (p.Leu232Arg)
n.715T>G
c.602T>G (p.Leu201Arg)
c.734T>G (p.Leu245Arg)
c.716T>G (p.Leu239Arg)
3g.46898719G>ACA433471323PTH1Rc.696G>A (p.Leu232=)
n.716G>A
c.603G>A (p.Leu201=)
c.735G>A (p.Leu245=)
c.717G>A (p.Leu239=)
 gnomAD v4
3g.46898719G>CCA433471325PTH1Rc.696G>C (p.Leu232=)
n.716G>C
c.603G>C (p.Leu201=)
c.735G>C (p.Leu245=)
c.717G>C (p.Leu239=)
3g.46898719G>TCA433471326PTH1Rc.696G>T (p.Leu232=)
n.716G>T
c.603G>T (p.Leu201=)
c.735G>T (p.Leu245=)
c.717G>T (p.Leu239=)
 gnomAD v4
3g.46898720C>ACA352496539PTH1Rc.697C>A (p.Arg233Ser)
n.717C>A
c.604C>A (p.Arg202Ser)
c.736C>A (p.Arg246Ser)
c.718C>A (p.Arg240Ser)
 gnomAD v4
3g.46898720C>GCA352496542PTH1Rc.697C>G (p.Arg233Gly)
n.717C>G
c.604C>G (p.Arg202Gly)
c.736C>G (p.Arg246Gly)
c.718C>G (p.Arg240Gly)
3g.46898720C>TCA352496546PTH1Rc.697C>T (p.Arg233Cys)
n.717C>T
c.604C>T (p.Arg202Cys)
c.736C>T (p.Arg246Cys)
c.718C>T (p.Arg240Cys)
 gnomAD v4
3g.46898721G>ACA352496550PTH1Rc.698G>A (p.Arg233His)
n.718G>A
c.605G>A (p.Arg202His)
c.737G>A (p.Arg246His)
c.719G>A (p.Arg240His)
3g.46898721G>CCA352496555PTH1Rc.698G>C (p.Arg233Pro)
n.718G>C
c.605G>C (p.Arg202Pro)
c.737G>C (p.Arg246Pro)
c.719G>C (p.Arg240Pro)
3g.46898721G>TCA352496559PTH1Rc.698G>T (p.Arg233Leu)
n.718G>T
c.605G>T (p.Arg202Leu)
c.737G>T (p.Arg246Leu)
c.719G>T (p.Arg240Leu)
3g.46898722C>ACA433471333PTH1Rc.699C>A (p.Arg233=)
n.719C>A
c.606C>A (p.Arg202=)
c.738C>A (p.Arg246=)
c.720C>A (p.Arg240=)
3g.46898722C>GCA433471335PTH1Rc.699C>G (p.Arg233=)
n.719C>G
c.606C>G (p.Arg202=)
c.738C>G (p.Arg246=)
c.720C>G (p.Arg240=)
3g.46898722C>TCA433471338PTH1Rc.699C>T (p.Arg233=)
n.719C>T
c.606C>T (p.Arg202=)
c.738C>T (p.Arg246=)
c.720C>T (p.Arg240=)
 gnomAD v4
3g.46898723G>ACA352496564PTH1Rc.700G>A (p.Ala234Thr)
n.720G>A
c.607G>A (p.Ala203Thr)
c.739G>A (p.Ala247Thr)
c.721G>A (p.Ala241Thr)
 gnomAD v4
3g.46898723G>CCA352496576PTH1Rc.700G>C (p.Ala234Pro)
n.720G>C
c.607G>C (p.Ala203Pro)
c.739G>C (p.Ala247Pro)
c.721G>C (p.Ala241Pro)
3g.46898723G>TCA352496569PTH1Rc.700G>T (p.Ala234Ser)
n.720G>T
c.607G>T (p.Ala203Ser)
c.739G>T (p.Ala247Ser)
c.721G>T (p.Ala241Ser)

Number of alleles fetched