| X | g.100407664A>C | CA414004978 | PCDH19 | c.934T>G (p.Tyr312Asp)
| |
| X | g.100407664A>G | CA414004979 | PCDH19 | c.934T>C (p.Tyr312His)
| |
| X | g.100407664A>T | CA414004977 | PCDH19 | c.934T>A (p.Tyr312Asn)
| |
| X | g.100407665C>A | CA517748524 | PCDH19 | c.933G>T (p.Val311=)
| |
| X | g.100407665C>G | CA517748522 | PCDH19 | c.933G>C (p.Val311=)
| |
| X | g.100407665C>T | CA517748519 | PCDH19 | c.933G>A (p.Val311=)
| |
| X | g.100407666A= | CA2447976808 | PCDH19 | c.932T= (p.Val311=)
| |
| X | g.100407666A>C | CA414004980 | PCDH19 | c.932T>G (p.Val311Gly)
| dbSNP |
| X | g.100407666A>G | CA414004981 | PCDH19 | c.932T>C (p.Val311Ala)
| |
| X | g.100407666A>T | CA414004982 | PCDH19 | c.932T>A (p.Val311Glu)
| |
| X | g.100407667C>A | CA414004984 | PCDH19 | c.931G>T (p.Val311Leu)
| |
| X | g.100407667C= | CA2447976809 | PCDH19 | c.931G= (p.Val311=)
| |
| X | g.100407667C>G | CA414004985 | PCDH19 | c.931G>C (p.Val311Leu)
| dbSNP gnomAD v2 |
| X | g.100407667C>T | CA414004986 | PCDH19 | c.931G>A (p.Val311Met)
| gnomAD v4 |
| X | g.100407668G>A | CA10468935 | PCDH19 | c.930C>T (p.His310=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407668G>C | CA414004987 | PCDH19 | c.930C>G (p.His310Gln)
| |
| X | g.100407668G= | CA2447976810 | PCDH19 | c.930C= (p.His310=)
| |
| X | g.100407668G>T | CA414004988 | PCDH19 | c.930C>A (p.His310Gln)
| gnomAD v4 |
| X | g.100407669T>A | CA414004989 | PCDH19 | c.929A>T (p.His310Leu)
| |
| X | g.100407669T>C | CA414004990 | PCDH19 | c.929A>G (p.His310Arg)
| |
| X | g.100407669T>G | CA414004991 | PCDH19 | c.929A>C (p.His310Pro)
| |
| X | g.100407670G>A | CA10468936 | PCDH19 | c.928C>T (p.His310Tyr)
| dbSNP ExAC gnomAD v4 |
| X | g.100407670G>C | CA414004993 | PCDH19 | c.928C>G (p.His310Asp)
| |
| X | g.100407670G= | CA2447976811 | PCDH19 | c.928C= (p.His310=)
| |
| X | g.100407670G>T | CA414004992 | PCDH19 | c.928C>A (p.His310Asn)
| |
| X | g.100407670_100407671delinsGC | CA2447976812 | PCDH19 | c.927_928delinsGC (p.Gly309=)
| |
| X | g.100407671C>A | CA517748545 | PCDH19 | c.927G>T (p.Gly309=)
| |
| X | g.100407671C>G | CA517748549 | PCDH19 | c.927G>C (p.Gly309=)
| |
| X | g.100407671C>T | CA517748547 | PCDH19 | c.927G>A (p.Gly309=)
| |
| X | g.100407674del | CA658653876 | PCDH19 | c.927del (p.His310ThrfsTer?)
| ClinVar dbSNP |
| X | g.100407672C>A | CA414004994 | PCDH19 | c.926G>T (p.Gly309Val)
| |
| X | g.100407672C>G | CA414004995 | PCDH19 | c.926G>C (p.Gly309Ala)
| |
| X | g.100407672C>T | CA414004996 | PCDH19 | c.926G>A (p.Gly309Glu)
| |
| X | g.100407673C>A | CA414004997 | PCDH19 | c.925G>T (p.Gly309Trp)
| |
| X | g.100407673C>G | CA414004998 | PCDH19 | c.925G>C (p.Gly309Arg)
| |
| X | g.100407673C>T | CA414004999 | PCDH19 | c.925G>A (p.Gly309Arg)
| |
| X | g.100407674C>A | CA414005000 | PCDH19 | c.924G>T (p.Glu308Asp)
| |
| X | g.100407674C>G | CA414005001 | PCDH19 | c.924G>C (p.Glu308Asp)
| |
| X | g.100407674C>T | CA517748557 | PCDH19 | c.924G>A (p.Glu308=)
| |
| X | g.100407675T>A | CA414005002 | PCDH19 | c.923A>T (p.Glu308Val)
| |
| X | g.100407675T>C | CA414005003 | PCDH19 | c.923A>G (p.Glu308Gly)
| |
| X | g.100407675T>G | CA414005004 | PCDH19 | c.923A>C (p.Glu308Ala)
| |
| X | g.100407676C>A | CA414005005 | PCDH19 | c.922G>T (p.Glu308Ter)
| ClinVar |
| X | g.100407676C= | CA2447976813 | PCDH19 | c.922G= (p.Glu308=)
| |
| X | g.100407676C>G | CA414005006 | PCDH19 | c.922G>C (p.Glu308Gln)
| |
| X | g.100407676C>T | CA10468937 | PCDH19 | c.922G>A (p.Glu308Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407677T>A | CA414005008 | PCDH19 | c.921A>T (p.Glu307Asp)
| |
| X | g.100407677T>C | CA517748569 | PCDH19 | c.921A>G (p.Glu307=)
| |
| X | g.100407677T>G | CA414005007 | PCDH19 | c.921A>C (p.Glu307Asp)
| |
| X | g.100407678T>A | CA414005009 | PCDH19 | c.920A>T (p.Glu307Val)
| |
| X | g.100407678T>C | CA414005011 | PCDH19 | c.920A>G (p.Glu307Gly)
| |
| X | g.100407678T>G | CA414005010 | PCDH19 | c.920A>C (p.Glu307Ala)
| |
| X | g.100407679C>A | CA414005012 | PCDH19 | c.919G>T (p.Glu307Ter)
| |
| X | g.100407679C= | CA2447976814 | PCDH19 | c.919G= (p.Glu307=)
| |
| X | g.100407679C>G | CA414005013 | PCDH19 | c.919G>C (p.Glu307Gln)
| gnomAD v4 |
| X | g.100407679C>T | CA414005014 | PCDH19 | c.919G>A (p.Glu307Lys)
| ClinVar dbSNP COSMIC |
| X | g.100407680G>A | CA517748582 | PCDH19 | c.918C>T (p.Tyr306=)
| gnomAD v4 |
| X | g.100407680G>C | CA414005015 | PCDH19 | c.918C>G (p.Tyr306Ter)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407680G= | CA2447976815 | PCDH19 | c.918C= (p.Tyr306=)
| |
| X | g.100407680G>T | CA414005016 | PCDH19 | c.918C>A (p.Tyr306Ter)
| gnomAD v4 COSMIC |
| X | g.100407681T>A | CA414005017 | PCDH19 | c.917A>T (p.Tyr306Phe)
| |
| X | g.100407681T>C | CA414005018 | PCDH19 | c.917A>G (p.Tyr306Cys)
| COSMIC |
| X | g.100407681T>G | CA414005019 | PCDH19 | c.917A>C (p.Tyr306Ser)
| |
| X | g.100407682A>C | CA414005020 | PCDH19 | c.916T>G (p.Tyr306Asp)
| |
| X | g.100407682A>G | CA414005021 | PCDH19 | c.916T>C (p.Tyr306His)
| |
| X | g.100407682A>T | CA414005022 | PCDH19 | c.916T>A (p.Tyr306Asn)
| |
| X | g.100407683G>A | CA517748595 | PCDH19 | c.915C>T (p.Asp305=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407683G>C | CA414005023 | PCDH19 | c.915C>G (p.Asp305Glu)
| |
| X | g.100407683G= | CA2447976816 | PCDH19 | c.915C= (p.Asp305=)
| |
| X | g.100407683G>T | CA414005024 | PCDH19 | c.915C>A (p.Asp305Glu)
| |
| X | g.100407684T>A | CA414005025 | PCDH19 | c.914A>T (p.Asp305Val)
| |
| X | g.100407684T>C | CA414005027 | PCDH19 | c.914A>G (p.Asp305Gly)
| ClinVar dbSNP |
| X | g.100407684T>G | CA414005026 | PCDH19 | c.914A>C (p.Asp305Ala)
| |
| X | g.100407684T= | CA2447976817 | PCDH19 | c.914A= (p.Asp305=)
| |
| X | g.100407685C>A | CA414005028 | PCDH19 | c.913G>T (p.Asp305Tyr)
| |
| X | g.100407685C>G | CA414005029 | PCDH19 | c.913G>C (p.Asp305His)
| |
| X | g.100407685C>T | CA414005030 | PCDH19 | c.913G>A (p.Asp305Asn)
| |
| X | g.100407686T>A | CA414005031 | PCDH19 | c.912A>T (p.Leu304Phe)
| |
| X | g.100407686T>C | CA517748602 | PCDH19 | c.912A>G (p.Leu304=)
| |
| X | g.100407686T>G | CA414005032 | PCDH19 | c.912A>C (p.Leu304Phe)
| |
| X | g.100407687A>C | CA414005033 | PCDH19 | c.911T>G (p.Leu304Ter)
| |
| X | g.100407687A>G | CA414005034 | PCDH19 | c.911T>C (p.Leu304Ser)
| |
| X | g.100407687A>T | CA414005035 | PCDH19 | c.911T>A (p.Leu304Ter)
| |
| X | g.100407688A>C | CA414005036 | PCDH19 | c.910T>G (p.Leu304Val)
| |
| X | g.100407688A>G | CA517748605 | PCDH19 | c.910T>C (p.Leu304=)
| |
| X | g.100407688A>T | CA414005037 | PCDH19 | c.910T>A (p.Leu304Ile)
| |
| X | g.100407689A>C | CA517748607 | PCDH19 | c.909T>G (p.Ala303=)
| |
| X | g.100407689A>G | CA517748609 | PCDH19 | c.909T>C (p.Ala303=)
| |
| X | g.100407689A>T | CA517748612 | PCDH19 | c.909T>A (p.Ala303=)
| |
| X | g.100407690G>A | CA414005040 | PCDH19 | c.908C>T (p.Ala303Val)
| |
| X | g.100407690G>C | CA414005039 | PCDH19 | c.908C>G (p.Ala303Gly)
| |
| X | g.100407690G>T | CA414005038 | PCDH19 | c.908C>A (p.Ala303Asp)
| |
| X | g.100407691C>A | CA414005043 | PCDH19 | c.907G>T (p.Ala303Ser)
| |
| X | g.100407691C>G | CA414005041 | PCDH19 | c.907G>C (p.Ala303Pro)
| |
| X | g.100407691C>T | CA414005042 | PCDH19 | c.907G>A (p.Ala303Thr)
| COSMIC |
| X | g.100407692G>A | CA517748619 | PCDH19 | c.906C>T (p.Gly302=)
| |
| X | g.100407692G>C | CA517748617 | PCDH19 | c.906C>G (p.Gly302=)
| |
| X | g.100407692G>T | CA517748616 | PCDH19 | c.906C>A (p.Gly302=)
| gnomAD v4 |
| X | g.100407692_100407697delinsACTGTCACTGGC | CA2831039550 | PCDH19 | c.901_906delinsGCCAGTGACAGT (p.Thr301_Gly302delinsAlaSerAspSer)
| |
| X | g.100407693C>A | CA414005044 | PCDH19 | c.905G>T (p.Gly302Val)
| |
| X | g.100407693C>G | CA414005045 | PCDH19 | c.905G>C (p.Gly302Ala)
| |
| X | g.100407693C>T | CA414005046 | PCDH19 | c.905G>A (p.Gly302Asp)
| |
| X | g.100407694C>A | CA414005049 | PCDH19 | c.904G>T (p.Gly302Cys)
| |
| X | g.100407694C>G | CA414005048 | PCDH19 | c.904G>C (p.Gly302Arg)
| |
| X | g.100407694C>T | CA414005047 | PCDH19 | c.904G>A (p.Gly302Ser)
| |
| X | g.100407695A>C | CA517748631 | PCDH19 | c.903T>G (p.Thr301=)
| |
| X | g.100407695A>G | CA517748636 | PCDH19 | c.903T>C (p.Thr301=)
| |
| X | g.100407695A>T | CA517748638 | PCDH19 | c.903T>A (p.Thr301=)
| |
| X | g.100407696G>A | CA414005050 | PCDH19 | c.902C>T (p.Thr301Ile)
| ClinVar dbSNP |
| X | g.100407696G>C | CA414005051 | PCDH19 | c.902C>G (p.Thr301Ser)
| |
| X | g.100407696G= | CA2447976818 | PCDH19 | c.902C= (p.Thr301=)
| |
| X | g.100407696G>T | CA414005052 | PCDH19 | c.902C>A (p.Thr301Asn)
| |
| X | g.100407697T>A | CA414005053 | PCDH19 | c.901A>T (p.Thr301Ser)
| |
| X | g.100407697T>C | CA414005054 | PCDH19 | c.901A>G (p.Thr301Ala)
| |
| X | g.100407697T>G | CA414005055 | PCDH19 | c.901A>C (p.Thr301Pro)
| |
| X | g.100407698del | CA2822656800 | PCDH19 | c.900del (p.Thr301LeufsTer4)
| |
| X | g.100407698G>A | CA517748647 | PCDH19 | c.900C>T (p.Val300=)
| |
| X | g.100407698G>C | CA517748651 | PCDH19 | c.900C>G (p.Val300=)
| |
| X | g.100407698G>T | CA517748650 | PCDH19 | c.900C>A (p.Val300=)
| |
| X | g.100407699A= | CA2447976819 | PCDH19 | c.899T= (p.Val300=)
| |
| X | g.100407699A>C | CA414005056 | PCDH19 | c.899T>G (p.Val300Gly)
| |
| X | g.100407699A>G | CA414005058 | PCDH19 | c.899T>C (p.Val300Ala)
| ClinVar dbSNP |
| X | g.100407699A>T | CA414005057 | PCDH19 | c.899T>A (p.Val300Asp)
| |
| X | g.100407700_100407701del | CA2695234724 | PCDH19 | c.898_899del (p.Val300HisfsTer19)
| |
| X | g.100407700del | CA2825002905 | PCDH19 | c.898del (p.Val300SerfsTer5)
| ClinVar |
| X | g.100407700C>A | CA414005059 | PCDH19 | c.898G>T (p.Val300Phe)
| |
| X | g.100407700C= | CA2447976820 | PCDH19 | c.898G= (p.Val300=)
| |
| X | g.100407700C>G | CA414005060 | PCDH19 | c.898G>C (p.Val300Leu)
| |
| X | g.100407700C>T | CA10468938 | PCDH19 | c.898G>A (p.Val300Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407701A>C | CA517748661 | PCDH19 | c.897T>G (p.Thr299=)
| |
| X | g.100407701A>G | CA517748662 | PCDH19 | c.897T>C (p.Thr299=)
| |
| X | g.100407701A>T | CA517748664 | PCDH19 | c.897T>A (p.Thr299=)
| |
| X | g.100407702G>A | CA333826080 | PCDH19 | c.896C>T (p.Thr299Ile)
| ClinVar dbSNP gnomAD v2 |
| X | g.100407702G>C | CA414005061 | PCDH19 | c.896C>G (p.Thr299Ser)
| |
| X | g.100407702G= | CA2447976821 | PCDH19 | c.896C= (p.Thr299=)
| |
| X | g.100407702G>T | CA414005062 | PCDH19 | c.896C>A (p.Thr299Asn)
| |
| X | g.100407703T>A | CA414005063 | PCDH19 | c.895A>T (p.Thr299Ser)
| |
| X | g.100407703T>C | CA414005064 | PCDH19 | c.895A>G (p.Thr299Ala)
| dbSNP |
| X | g.100407703T>G | CA414005065 | PCDH19 | c.895A>C (p.Thr299Pro)
| |
| X | g.100407703T= | CA2447976822 | PCDH19 | c.895A= (p.Thr299=)
| |
| X | g.100407704G>A | CA517748673 | PCDH19 | c.894C>T (p.Val298=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407704G>C | CA517748675 | PCDH19 | c.894C>G (p.Val298=)
| |
| X | g.100407704G= | CA2447976823 | PCDH19 | c.894C= (p.Val298=)
| |
| X | g.100407704G>T | CA517748674 | PCDH19 | c.894C>A (p.Val298=)
| |
| X | g.100407705A>C | CA414005066 | PCDH19 | c.893T>G (p.Val298Gly)
| COSMIC |
| X | g.100407705A>G | CA414005067 | PCDH19 | c.893T>C (p.Val298Ala)
| |
| X | g.100407705A>T | CA414005068 | PCDH19 | c.893T>A (p.Val298Asp)
| |
| X | g.100407706C>A | CA414005070 | PCDH19 | c.892G>T (p.Val298Phe)
| |
| X | g.100407706C>G | CA414005071 | PCDH19 | c.892G>C (p.Val298Leu)
| gnomAD v4 |
| X | g.100407706C>T | CA414005069 | PCDH19 | c.892G>A (p.Val298Ile)
| gnomAD v4 |
| X | g.100407707C>A | CA517748678 | PCDH19 | c.891G>T (p.Leu297=)
| |
| X | g.100407707C>G | CA517748680 | PCDH19 | c.891G>C (p.Leu297=)
| |
| X | g.100407707C>T | CA517748683 | PCDH19 | c.891G>A (p.Leu297=)
| ClinVar |
| X | g.100407708A>C | CA414005072 | PCDH19 | c.890T>G (p.Leu297Arg)
| |
| X | g.100407708A>G | CA414005073 | PCDH19 | c.890T>C (p.Leu297Pro)
| |
| X | g.100407708A>T | CA414005074 | PCDH19 | c.890T>A (p.Leu297Gln)
| |
| X | g.100407709G>A | CA517748685 | PCDH19 | c.889C>T (p.Leu297=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407709G>C | CA414005075 | PCDH19 | c.889C>G (p.Leu297Val)
| |
| X | g.100407709G= | CA2447976824 | PCDH19 | c.889C= (p.Leu297=)
| |
| X | g.100407709G>T | CA414005076 | PCDH19 | c.889C>A (p.Leu297Met)
| |
| X | g.100407710G>A | CA292698 | PCDH19 | c.888C>T (p.Gly296=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407710G>C | CA517748690 | PCDH19 | c.888C>G (p.Gly296=)
| |
| X | g.100407710G= | CA2447976825 | PCDH19 | c.888C= (p.Gly296=)
| |
| X | g.100407710G>T | CA517748692 | PCDH19 | c.888C>A (p.Gly296=)
| |
| X | g.100407711C>A | CA414005077 | PCDH19 | c.887G>T (p.Gly296Val)
| ClinVar dbSNP |
| X | g.100407711C= | CA2447976826 | PCDH19 | c.887G= (p.Gly296=)
| |
| X | g.100407711C>G | CA414005078 | PCDH19 | c.887G>C (p.Gly296Ala)
| dbSNP |
| X | g.100407711C>T | CA414005079 | PCDH19 | c.887G>A (p.Gly296Asp)
| |
| X | g.100407712C>A | CA414005080 | PCDH19 | c.886G>T (p.Gly296Cys)
| |
| X | g.100407712C= | CA2447976827 | PCDH19 | c.886G= (p.Gly296=)
| |
| X | g.100407712C>G | CA414005081 | PCDH19 | c.886G>C (p.Gly296Arg)
| |
| X | g.100407712C>T | CA10468939 | PCDH19 | c.886G>A (p.Gly296Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407712_100407715dup | CA2573159044 | PCDH19 | c.883_886dup (p.Gly296GlufsTer25)
| ClinVar dbSNP |
| X | g.100407713A>C | CA414005082 | PCDH19 | c.885T>G (p.Ser295Arg)
| |
| X | g.100407713A>G | CA517748696 | PCDH19 | c.885T>C (p.Ser295=)
| |
| X | g.100407713A>T | CA414005083 | PCDH19 | c.885T>A (p.Ser295Arg)
| |
| X | g.100407714C>A | CA414005086 | PCDH19 | c.884G>T (p.Ser295Ile)
| |
| X | g.100407714C>G | CA414005085 | PCDH19 | c.884G>C (p.Ser295Thr)
| |
| X | g.100407714C>T | CA414005084 | PCDH19 | c.884G>A (p.Ser295Asn)
| |
| X | g.100407715del | CA2573159045 | PCDH19 | c.883del (p.Ser295ValfsTer10)
| ClinVar dbSNP |
| X | g.100407715T>A | CA414005087 | PCDH19 | c.883A>T (p.Ser295Cys)
| |
| X | g.100407715T>C | CA10468940 | PCDH19 | c.883A>G (p.Ser295Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407715T>G | CA414005088 | PCDH19 | c.883A>C (p.Ser295Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407715T= | CA2447976828 | PCDH19 | c.883A= (p.Ser295=)
| |
| X | g.100407716G>A | CA517748707 | PCDH19 | c.882C>T (p.His294=)
| ClinVar dbSNP |
| X | g.100407716G>C | CA414005089 | PCDH19 | c.882C>G (p.His294Gln)
| |
| X | g.100407716G>T | CA414005090 | PCDH19 | c.882C>A (p.His294Gln)
| |
| X | g.100407717T>A | CA414005091 | PCDH19 | c.881A>T (p.His294Leu)
| |
| X | g.100407717T>C | CA414005092 | PCDH19 | c.881A>G (p.His294Arg)
| |
| X | g.100407717T>G | CA333826081 | PCDH19 | c.881A>C (p.His294Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407717T= | CA2447976829 | PCDH19 | c.881A= (p.His294=)
| |
| X | g.100407718G>A | CA414005093 | PCDH19 | c.880C>T (p.His294Tyr)
| |
| X | g.100407718G>C | CA414005094 | PCDH19 | c.880C>G (p.His294Asp)
| |
| X | g.100407718G= | CA2447976830 | PCDH19 | c.880C= (p.His294=)
| |
| X | g.100407718G>T | CA414005095 | PCDH19 | c.880C>A (p.His294Asn)
| |
| X | g.100407719C>A | CA333826082 | PCDH19 | c.879G>T (p.Pro293=)
| dbSNP |
| X | g.100407719C= | CA2447976831 | PCDH19 | c.879G= (p.Pro293=)
| |
| X | g.100407719C>G | CA517748715 | PCDH19 | c.879G>C (p.Pro293=)
| ClinVar |
| X | g.100407719C>T | CA517748718 | PCDH19 | c.879G>A (p.Pro293=)
| gnomAD v4 |
| X | g.100407721_100407725dup | CA658799826 | PCDH19 | c.875_879dup (p.His294ThrfsTer13)
| ClinVar dbSNP |
| X | g.100407720G>A | CA414005096 | PCDH19 | c.878C>T (p.Pro293Leu)
| |
| X | g.100407720G>C | CA414005097 | PCDH19 | c.878C>G (p.Pro293Arg)
| |
| X | g.100407720G>T | CA414005098 | PCDH19 | c.878C>A (p.Pro293Gln)
| |
| X | g.100407722dup | CA645369813 | PCDH19 | c.878dup (p.His294AlafsTer26)
| ClinVar dbSNP |
| X | g.100407721G>A | CA414005100 | PCDH19 | c.877C>T (p.Pro293Ser)
| |
| X | g.100407721G>C | CA414005101 | PCDH19 | c.877C>G (p.Pro293Ala)
| |
| X | g.100407721G= | CA2447976832 | PCDH19 | c.877C= (p.Pro293=)
| |
| X | g.100407721G>T | CA414005099 | PCDH19 | c.877C>A (p.Pro293Thr)
| dbSNP |
| X | g.100407722G>A | CA517748723 | PCDH19 | c.876C>T (p.Asp292=)
| dbSNP gnomAD v4 |
| X | g.100407722G>C | CA414005102 | PCDH19 | c.876C>G (p.Asp292Glu)
| |
| X | g.100407722G= | CA2447976833 | PCDH19 | c.876C= (p.Asp292=)
| |
| X | g.100407722G>T | CA414005103 | PCDH19 | c.876C>A (p.Asp292Glu)
| |
| X | g.100407723T>A | CA414005104 | PCDH19 | c.875A>T (p.Asp292Val)
| |
| X | g.100407723T>C | CA414005105 | PCDH19 | c.875A>G (p.Asp292Gly)
| |
| X | g.100407723T>G | CA414005106 | PCDH19 | c.875A>C (p.Asp292Ala)
| |
| X | g.100407724C>A | CA414005107 | PCDH19 | c.874G>T (p.Asp292Tyr)
| |
| X | g.100407724C>G | CA414005108 | PCDH19 | c.874G>C (p.Asp292His)
| |
| X | g.100407724C>T | CA414005109 | PCDH19 | c.874G>A (p.Asp292Asn)
| gnomAD v4 |
| X | g.100407725G>A | CA517748727 | PCDH19 | c.873C>T (p.Ile291=)
| dbSNP gnomAD v4 COSMIC |
| X | g.100407725G>C | CA414005110 | PCDH19 | c.873C>G (p.Ile291Met)
| |
| X | g.100407725G= | CA2447976834 | PCDH19 | c.873C= (p.Ile291=)
| |
| X | g.100407725G>T | CA517748734 | PCDH19 | c.873C>A (p.Ile291=)
| ClinVar dbSNP |
| X | g.100407726A>C | CA414005111 | PCDH19 | c.872T>G (p.Ile291Ser)
| |
| X | g.100407726A>G | CA414005112 | PCDH19 | c.872T>C (p.Ile291Thr)
| |
| X | g.100407726A>T | CA414005113 | PCDH19 | c.872T>A (p.Ile291Asn)
| |
| X | g.100407727T>A | CA414005115 | PCDH19 | c.871A>T (p.Ile291Phe)
| |
| X | g.100407727T>C | CA414005116 | PCDH19 | c.871A>G (p.Ile291Val)
| |
| X | g.100407727T>G | CA414005114 | PCDH19 | c.871A>C (p.Ile291Leu)
| |
| X | g.100407728C>A | CA10468941 | PCDH19 | c.870G>T (p.Gln290His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407728C= | CA2447976835 | PCDH19 | c.870G= (p.Gln290=)
| |
| X | g.100407728C>G | CA414005117 | PCDH19 | c.870G>C (p.Gln290His)
| |
| X | g.100407728C>T | CA517748749 | PCDH19 | c.870G>A (p.Gln290=)
| |
| X | g.100407729T>A | CA414005118 | PCDH19 | c.869A>T (p.Gln290Leu)
| |
| X | g.100407729T>C | CA414005119 | PCDH19 | c.869A>G (p.Gln290Arg)
| |
| X | g.100407729T>G | CA414005120 | PCDH19 | c.869A>C (p.Gln290Pro)
| |
| X | g.100407729_100407733delinsTGAAA | CA2447976836 | PCDH19 | c.865_869delinsTTTCA (p.Phe289=)
| |
| X | g.100407730G>A | CA414005123 | PCDH19 | c.868C>T (p.Gln290Ter)
| COSMIC |
| X | g.100407730G>C | CA414005121 | PCDH19 | c.868C>G (p.Gln290Glu)
| gnomAD v4 |
| X | g.100407730G>T | CA414005122 | PCDH19 | c.868C>A (p.Gln290Lys)
| |
| X | g.100407732_100407735del | CA16621902 | PCDH19 | c.865_868del (p.Phe289ArgfsTer15)
| ClinVar dbSNP |
| X | g.100407731A>C | CA414005124 | PCDH19 | c.867T>G (p.Phe289Leu)
| |
| X | g.100407731A>G | CA517748755 | PCDH19 | c.867T>C (p.Phe289=)
| |
| X | g.100407731A>T | CA414005127 | PCDH19 | c.867T>A (p.Phe289Leu)
| |
| X | g.100407733del | CA2509709052 | PCDH19 | c.867del (p.Gln290ArgfsTer15)
| |
| X | g.100407731_100407735dup | CA2695197169 | PCDH19 | c.863_867dup (p.Gln290SerfsTer17)
| ClinVar |
| X | g.100407732A>C | CA414005128 | PCDH19 | c.866T>G (p.Phe289Cys)
| |
| X | g.100407732A>G | CA414005129 | PCDH19 | c.866T>C (p.Phe289Ser)
| |
| X | g.100407732A>T | CA414005130 | PCDH19 | c.866T>A (p.Phe289Tyr)
| |
| X | g.100407733A>C | CA414005131 | PCDH19 | c.865T>G (p.Phe289Val)
| |
| X | g.100407733A>G | CA414005133 | PCDH19 | c.865T>C (p.Phe289Leu)
| |
| X | g.100407733A>T | CA414005132 | PCDH19 | c.865T>A (p.Phe289Ile)
| |
| X | g.100407734G>A | CA10468942 | PCDH19 | c.864C>T (p.Leu288=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407734G>C | CA517748766 | PCDH19 | c.864C>G (p.Leu288=)
| ClinVar dbSNP COSMIC |
| X | g.100407734G= | CA2447976837 | PCDH19 | c.864C= (p.Leu288=)
| |
| X | g.100407734G>T | CA517748764 | PCDH19 | c.864C>A (p.Leu288=)
| |
| X | g.100407735A>C | CA414005142 | PCDH19 | c.863T>G (p.Leu288Arg)
| |
| X | g.100407735A>G | CA414005135 | PCDH19 | c.863T>C (p.Leu288Pro)
| |
| X | g.100407735A>T | CA414005137 | PCDH19 | c.863T>A (p.Leu288His)
| |
| X | g.100407736G>A | CA10468943 | PCDH19 | c.862C>T (p.Leu288Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407736G>C | CA414005145 | PCDH19 | c.862C>G (p.Leu288Val)
| |
| X | g.100407736G= | CA2447976838 | PCDH19 | c.862C= (p.Leu288=)
| |
| X | g.100407736G>T | CA414005146 | PCDH19 | c.862C>A (p.Leu288Ile)
| |
| X | g.100407737C>A | CA414005148 | PCDH19 | c.861G>T (p.Glu287Asp)
| |
| X | g.100407737C>G | CA414005150 | PCDH19 | c.861G>C (p.Glu287Asp)
| |
| X | g.100407737C>T | CA517748770 | PCDH19 | c.861G>A (p.Glu287=)
| |
| X | g.100407738T>A | CA414005153 | PCDH19 | c.860A>T (p.Glu287Val)
| |
| X | g.100407738T>C | CA414005155 | PCDH19 | c.860A>G (p.Glu287Gly)
| |
| X | g.100407738T>G | CA414005159 | PCDH19 | c.860A>C (p.Glu287Ala)
| |
| X | g.100407739C>A | CA414005164 | PCDH19 | c.859G>T (p.Glu287Ter)
| ClinVar dbSNP |
| X | g.100407739C= | CA2447976839 | PCDH19 | c.859G= (p.Glu287=)
| |
| X | g.100407739C>G | CA414005165 | PCDH19 | c.859G>C (p.Glu287Gln)
| |
| X | g.100407739C>T | CA414005173 | PCDH19 | c.859G>A (p.Glu287Lys)
| COSMIC |
| X | g.100407740G>A | CA10468944 | PCDH19 | c.858C>T (p.Arg286=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407740G>C | CA517748780 | PCDH19 | c.858C>G (p.Arg286=)
| |
| X | g.100407740G= | CA2447976840 | PCDH19 | c.858C= (p.Arg286=)
| |
| X | g.100407740G>T | CA517748778 | PCDH19 | c.858C>A (p.Arg286=)
| |
| X | g.100407741C>A | CA333826083 | PCDH19 | c.857G>T (p.Arg286Leu)
| dbSNP |
| X | g.100407741C= | CA2447976841 | PCDH19 | c.857G= (p.Arg286=)
| |
| X | g.100407741C>G | CA414005182 | PCDH19 | c.857G>C (p.Arg286Pro)
| |
| X | g.100407741C>T | CA414005185 | PCDH19 | c.857G>A (p.Arg286His)
| COSMIC |
| X | g.100407742G>A | CA414005190 | PCDH19 | c.856C>T (p.Arg286Cys)
| COSMIC |
| X | g.100407742G>C | CA414005193 | PCDH19 | c.856C>G (p.Arg286Gly)
| |
| X | g.100407742G>T | CA414005196 | PCDH19 | c.856C>A (p.Arg286Ser)
| |
| X | g.100407743C>A | CA517748787 | PCDH19 | c.855G>T (p.Thr285=)
| |
| X | g.100407743C= | CA2447976842 | PCDH19 | c.855G= (p.Thr285=)
| |
| X | g.100407743C>G | CA517748789 | PCDH19 | c.855G>C (p.Thr285=)
| gnomAD v4 |
| X | g.100407743C>T | CA517748790 | PCDH19 | c.855G>A (p.Thr285=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.100407744G>A | CA414005199 | PCDH19 | c.854C>T (p.Thr285Met)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407744G>C | CA414005200 | PCDH19 | c.854C>G (p.Thr285Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407744G= | CA2447976843 | PCDH19 | c.854C= (p.Thr285=)
| |
| X | g.100407744G>T | CA414005201 | PCDH19 | c.854C>A (p.Thr285Lys)
| ClinVar gnomAD v4 |
| X | g.100407745_100407746dup | CA1139667044 | PCDH19 | c.853_854dup (p.Glu287AlafsTer19)
| ClinVar dbSNP |
| X | g.100407745T>A | CA414005204 | PCDH19 | c.853A>T (p.Thr285Ser)
| |
| X | g.100407745T>C | CA414005205 | PCDH19 | c.853A>G (p.Thr285Ala)
| COSMIC |
| X | g.100407745T>G | CA414005209 | PCDH19 | c.853A>C (p.Thr285Pro)
| |
| X | g.100407746G>A | CA517748798 | PCDH19 | c.852C>T (p.Arg284=)
| |
| X | g.100407746G>C | CA517748799 | PCDH19 | c.852C>G (p.Arg284=)
| |
| X | g.100407746G>T | CA517748800 | PCDH19 | c.852C>A (p.Arg284=)
| |
| X | g.100407747C>A | CA10468945 | PCDH19 | c.851G>T (p.Arg284Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407747C= | CA2447976844 | PCDH19 | c.851G= (p.Arg284=)
| |
| X | g.100407747C>G | CA414005219 | PCDH19 | c.851G>C (p.Arg284Pro)
| |
| X | g.100407747C>T | CA333826084 | PCDH19 | c.851G>A (p.Arg284His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407748G>A | CA414005228 | PCDH19 | c.850C>T (p.Arg284Cys)
| gnomAD v4 COSMIC |
| X | g.100407748G>C | CA414005231 | PCDH19 | c.850C>G (p.Arg284Gly)
| |
| X | g.100407748G>T | CA414005233 | PCDH19 | c.850C>A (p.Arg284Ser)
| |
| X | g.100407749G>A | CA517748808 | PCDH19 | c.849C>T (p.Asp283=)
| |
| X | g.100407749G>C | CA414005238 | PCDH19 | c.849C>G (p.Asp283Glu)
| |
| X | g.100407749G>T | CA414005241 | PCDH19 | c.849C>A (p.Asp283Glu)
| |
| X | g.100407750T>A | CA414005253 | PCDH19 | c.848A>T (p.Asp283Val)
| |
| X | g.100407750T>C | CA414005252 | PCDH19 | c.848A>G (p.Asp283Gly)
| |
| X | g.100407750T>G | CA414005248 | PCDH19 | c.848A>C (p.Asp283Ala)
| |
| X | g.100407750_100407778delinsTCGTTGACGTAGCCATAGAAGGAGTAGAC | CA2447976845 | PCDH19 | c.820_848delinsGTCTACTCCTTCTATGGCTACGTCAACGA (p.Val274=)
| |
| X | g.100407751C>A | CA414005262 | PCDH19 | c.847G>T (p.Asp283Tyr)
| |
| X | g.100407751C>G | CA414005265 | PCDH19 | c.847G>C (p.Asp283His)
| |
| X | g.100407751C>T | CA414005269 | PCDH19 | c.847G>A (p.Asp283Asn)
| gnomAD v4 COSMIC |
| X | g.100407752_100407779del | CA916083980 | PCDH19 | c.820_847del (p.Val274ThrfsTer22)
| ClinVar dbSNP |
| X | g.100407752G>A | CA10468946 | PCDH19 | c.846C>T (p.Asn282=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.100407752G>C | CA414005277 | PCDH19 | c.846C>G (p.Asn282Lys)
| |
| X | g.100407752G= | CA2447976846 | PCDH19 | c.846C= (p.Asn282=)
| |
| X | g.100407752G>T | CA414005281 | PCDH19 | c.846C>A (p.Asn282Lys)
| gnomAD v4 |
| X | g.100407753T>A | CA414005287 | PCDH19 | c.845A>T (p.Asn282Ile)
| |
| X | g.100407753T>C | CA414005294 | PCDH19 | c.845A>G (p.Asn282Ser)
| gnomAD v4 |
| X | g.100407753T>G | CA414005292 | PCDH19 | c.845A>C (p.Asn282Thr)
| |
| X | g.100407754T>A | CA414005301 | PCDH19 | c.844A>T (p.Asn282Tyr)
| |
| X | g.100407754T>C | CA333826085 | PCDH19 | c.844A>G (p.Asn282Asp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407754T>G | CA414005307 | PCDH19 | c.844A>C (p.Asn282His)
| |
| X | g.100407754T= | CA2447976847 | PCDH19 | c.844A= (p.Asn282=)
| |
| X | g.100407755G>A | CA517748831 | PCDH19 | c.843C>T (p.Val281=)
| |
| X | g.100407755G>C | CA517748833 | PCDH19 | c.843C>G (p.Val281=)
| |
| X | g.100407755G>T | CA517748834 | PCDH19 | c.843C>A (p.Val281=)
| gnomAD v4 |
| X | g.100407756A>C | CA414005312 | PCDH19 | c.842T>G (p.Val281Gly)
| |
| X | g.100407756A>G | CA414005316 | PCDH19 | c.842T>C (p.Val281Ala)
| |
| X | g.100407756A>T | CA414005326 | PCDH19 | c.842T>A (p.Val281Asp)
| |
| X | g.100407756_100407757delinsAC | CA2447976848 | PCDH19 | c.841_842delinsGT (p.Val281=)
| |
| X | g.100407757del | CA913191148 | PCDH19 | c.841del (p.Val281SerfsTer24)
| ClinVar dbSNP |
| X | g.100407757C>A | CA414005333 | PCDH19 | c.841G>T (p.Val281Phe)
| |
| X | g.100407757C= | CA2447976849 | PCDH19 | c.841G= (p.Val281=)
| |
| X | g.100407757C>G | CA414005335 | PCDH19 | c.841G>C (p.Val281Leu)
| |
| X | g.100407757C>T | CA333826086 | PCDH19 | c.841G>A (p.Val281Ile)
| dbSNP COSMIC |
| X | g.100407758G>A | CA517748842 | PCDH19 | c.840C>T (p.Tyr280=)
| |
| X | g.100407758G>C | CA414005344 | PCDH19 | c.840C>G (p.Tyr280Ter)
| |
| X | g.100407758G>T | CA414005348 | PCDH19 | c.840C>A (p.Tyr280Ter)
| ClinVar |
| X | g.100407759T>A | CA414007839 | PCDH19 | c.839A>T (p.Tyr280Phe)
| |
| X | g.100407759T>C | CA414007840 | PCDH19 | c.839A>G (p.Tyr280Cys)
| gnomAD v4 |
| X | g.100407759T>G | CA414007838 | PCDH19 | c.839A>C (p.Tyr280Ser)
| |
| X | g.100407760A>C | CA414007841 | PCDH19 | c.838T>G (p.Tyr280Asp)
| |
| X | g.100407760A>G | CA414007843 | PCDH19 | c.838T>C (p.Tyr280His)
| |
| X | g.100407760A>T | CA414007842 | PCDH19 | c.838T>A (p.Tyr280Asn)
| |
| X | g.100407761G>A | CA517748003 | PCDH19 | c.837C>T (p.Gly279=)
| |
| X | g.100407761G>C | CA517748007 | PCDH19 | c.837C>G (p.Gly279=)
| dbSNP gnomAD v2 |
| X | g.100407761G= | CA2447976850 | PCDH19 | c.837C= (p.Gly279=)
| |
| X | g.100407761G>T | CA517747998 | PCDH19 | c.837C>A (p.Gly279=)
| |
| X | g.100407762C>A | CA414007844 | PCDH19 | c.836G>T (p.Gly279Val)
| |
| X | g.100407762C>G | CA414007846 | PCDH19 | c.836G>C (p.Gly279Ala)
| |
| X | g.100407762C>T | CA414007849 | PCDH19 | c.836G>A (p.Gly279Asp)
| |
| X | g.100407763C>A | CA414007851 | PCDH19 | c.835G>T (p.Gly279Cys)
| |
| X | g.100407763C= | CA2447976851 | PCDH19 | c.835G= (p.Gly279=)
| |
| X | g.100407763C>G | CA414007853 | PCDH19 | c.835G>C (p.Gly279Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407763C>T | CA414007856 | PCDH19 | c.835G>A (p.Gly279Ser)
| |
| X | g.100407764A>C | CA414007860 | PCDH19 | c.834T>G (p.Tyr278Ter)
| |
| X | g.100407764A>G | CA517748012 | PCDH19 | c.834T>C (p.Tyr278=)
| |
| X | g.100407764A>T | CA414007859 | PCDH19 | c.834T>A (p.Tyr278Ter)
| |
