| X | g.100407981_100407990delinsCAGCTGTAGG | CA2695234729 | PCDH19 | c.608_617delinsCCTACAGCTG (p.His203_Phe206delinsProTyrSerCys)
| |
| X | g.100407985T>A | CA414009026 | PCDH19 | c.613A>T (p.Ser205Cys)
| |
| X | g.100407985T>C | CA414009028 | PCDH19 | c.613A>G (p.Ser205Gly)
| |
| X | g.100407985T>G | CA414009031 | PCDH19 | c.613A>C (p.Ser205Arg)
| dbSNP gnomAD v4 |
| X | g.100407985T= | CA2447976962 | PCDH19 | c.613A= (p.Ser205=)
| |
| X | g.100407986G>A | CA517748783 | PCDH19 | c.612C>T (p.Tyr204=)
| dbSNP |
| X | g.100407986G>C | CA414009034 | PCDH19 | c.612C>G (p.Tyr204Ter)
| |
| X | g.100407986G= | CA2447976963 | PCDH19 | c.612C= (p.Tyr204=)
| |
| X | g.100407986G>T | CA414009036 | PCDH19 | c.612C>A (p.Tyr204Ter)
| ClinVar dbSNP |
| X | g.100407987T>A | CA414009039 | PCDH19 | c.611A>T (p.Tyr204Phe)
| |
| X | g.100407987T>C | CA10468969 | PCDH19 | c.611A>G (p.Tyr204Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407987T>G | CA414009040 | PCDH19 | c.611A>C (p.Tyr204Ser)
| |
| X | g.100407987T= | CA2447976964 | PCDH19 | c.611A= (p.Tyr204=)
| |
| X | g.100407988A>C | CA414009044 | PCDH19 | c.610T>G (p.Tyr204Asp)
| |
| X | g.100407988A>G | CA414009046 | PCDH19 | c.610T>C (p.Tyr204His)
| |
| X | g.100407988A>T | CA414009048 | PCDH19 | c.610T>A (p.Tyr204Asn)
| |
| X | g.100407989G>A | CA517748794 | PCDH19 | c.609C>T (p.His203=)
| dbSNP |
| X | g.100407989G>C | CA414009050 | PCDH19 | c.609C>G (p.His203Gln)
| ClinVar gnomAD v4 |
| X | g.100407989G>T | CA414009052 | PCDH19 | c.609C>A (p.His203Gln)
| |
| X | g.100407990T>A | CA414009061 | PCDH19 | c.608A>T (p.His203Leu)
| gnomAD v4 |
| X | g.100407990T>C | CA414009056 | PCDH19 | c.608A>G (p.His203Arg)
| |
| X | g.100407990T>G | CA414009058 | PCDH19 | c.608A>C (p.His203Pro)
| |
| X | g.100407991G>A | CA10468970 | PCDH19 | c.607C>T (p.His203Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407991G>C | CA414009065 | PCDH19 | c.607C>G (p.His203Asp)
| |
| X | g.100407991G= | CA2447976965 | PCDH19 | c.607C= (p.His203=)
| |
| X | g.100407991G>T | CA414009067 | PCDH19 | c.607C>A (p.His203Asn)
| gnomAD v4 |
| X | g.100407992C>A | CA517748805 | PCDH19 | c.606G>T (p.Ser202=)
| |
| X | g.100407992C= | CA2447976966 | PCDH19 | c.606G= (p.Ser202=)
| |
| X | g.100407992C>G | CA517748806 | PCDH19 | c.606G>C (p.Ser202=)
| |
| X | g.100407992C>T | CA10468971 | PCDH19 | c.606G>A (p.Ser202=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.100407993G>A | CA414009072 | PCDH19 | c.605C>T (p.Ser202Leu)
| |
| X | g.100407993G>C | CA414009074 | PCDH19 | c.605C>G (p.Ser202Trp)
| |
| X | g.100407993G>T | CA414009076 | PCDH19 | c.605C>A (p.Ser202Ter)
| gnomAD v4 |
| X | g.100407994A>C | CA414009084 | PCDH19 | c.604T>G (p.Ser202Ala)
| |
| X | g.100407994A>G | CA414009080 | PCDH19 | c.604T>C (p.Ser202Pro)
| |
| X | g.100407994A>T | CA414009082 | PCDH19 | c.604T>A (p.Ser202Thr)
| |
| X | g.100407995C>A | CA414009086 | PCDH19 | c.603G>T (p.Gln201His)
| |
| X | g.100407995C>G | CA414009088 | PCDH19 | c.603G>C (p.Gln201His)
| |
| X | g.100407995C>T | CA517748814 | PCDH19 | c.603G>A (p.Gln201=)
| |
| X | g.100407995_100407998dup | CA2499226259 | PCDH19 | c.600_603dup (p.Ser202AlafsTer25)
| ClinVar dbSNP |
| X | g.100407996T>A | CA414009091 | PCDH19 | c.602A>T (p.Gln201Leu)
| |
| X | g.100407996T>C | CA414009093 | PCDH19 | c.602A>G (p.Gln201Arg)
| dbSNP |
| X | g.100407996T>G | CA414009096 | PCDH19 | c.602A>C (p.Gln201Pro)
| ClinVar dbSNP |
| X | g.100407996T= | CA2447976967 | PCDH19 | c.602A= (p.Gln201=)
| |
| X | g.100407997G>A | CA414009099 | PCDH19 | c.601C>T (p.Gln201Ter)
| |
| X | g.100407997G>C | CA414009103 | PCDH19 | c.601C>G (p.Gln201Glu)
| |
| X | g.100407997G>T | CA414009101 | PCDH19 | c.601C>A (p.Gln201Lys)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407998C>A | CA517748820 | PCDH19 | c.600G>T (p.Thr200=)
| |
| X | g.100407998C>G | CA517748821 | PCDH19 | c.600G>C (p.Thr200=)
| gnomAD v4 |
| X | g.100407998C>T | CA517748822 | PCDH19 | c.600G>A (p.Thr200=)
| gnomAD v4 |
| X | g.100407999G>A | CA414009106 | PCDH19 | c.599C>T (p.Thr200Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407999G>C | CA414009108 | PCDH19 | c.599C>G (p.Thr200Arg)
| |
| X | g.100407999G= | CA2447976968 | PCDH19 | c.599C= (p.Thr200=)
| |
| X | g.100407999G>T | CA414009110 | PCDH19 | c.599C>A (p.Thr200Lys)
| gnomAD v4 |
| X | g.100408002_100408009del | CA2695234731 | PCDH19 | c.592_599del (p.Arg198AlafsTer25)
| |
| X | g.100408000T>A | CA414009112 | PCDH19 | c.598A>T (p.Thr200Ser)
| |
| X | g.100408000T>C | CA414009114 | PCDH19 | c.598A>G (p.Thr200Ala)
| |
| X | g.100408000T>G | CA414009116 | PCDH19 | c.598A>C (p.Thr200Pro)
| |
| X | g.100408001C>A | CA414009118 | PCDH19 | c.597G>T (p.Glu199Asp)
| |
| X | g.100408001C= | CA2447976969 | PCDH19 | c.597G= (p.Glu199=)
| |
| X | g.100408001C>G | CA414009120 | PCDH19 | c.597G>C (p.Glu199Asp)
| |
| X | g.100408001C>T | CA517748836 | PCDH19 | c.597G>A (p.Glu199=)
| dbSNP |
| X | g.100408002T>A | CA414009123 | PCDH19 | c.596A>T (p.Glu199Val)
| |
| X | g.100408002T>C | CA414009125 | PCDH19 | c.596A>G (p.Glu199Gly)
| ClinVar |
| X | g.100408002T>G | CA414009127 | PCDH19 | c.596A>C (p.Glu199Ala)
| |
| X | g.100408003C>A | CA414009134 | PCDH19 | c.595G>T (p.Glu199Ter)
| ClinVar dbSNP |
| X | g.100408003C= | CA2447976970 | PCDH19 | c.595G= (p.Glu199=)
| |
| X | g.100408003C>G | CA414009130 | PCDH19 | c.595G>C (p.Glu199Gln)
| ClinVar |
| X | g.100408003C>T | CA414009132 | PCDH19 | c.595G>A (p.Glu199Lys)
| |
| X | g.100408004G>A | CA517748843 | PCDH19 | c.594C>T (p.Arg198=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.100408004G>C | CA10468972 | PCDH19 | c.594C>G (p.Arg198=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408004G= | CA2447976971 | PCDH19 | c.594C= (p.Arg198=)
| |
| X | g.100408004G>T | CA517748847 | PCDH19 | c.594C>A (p.Arg198=)
| ClinVar dbSNP gnomAD v4 |
| X | g.100408005C>A | CA414009138 | PCDH19 | c.593G>T (p.Arg198Leu)
| ClinVar dbSNP |
| X | g.100408005C= | CA2447976972 | PCDH19 | c.593G= (p.Arg198=)
| |
| X | g.100408005C>G | CA414009140 | PCDH19 | c.593G>C (p.Arg198Pro)
| ClinVar dbSNP |
| X | g.100408005C>T | CA10468973 | PCDH19 | c.593G>A (p.Arg198His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408006G>A | CA414009145 | PCDH19 | c.592C>T (p.Arg198Cys)
| gnomAD v4 |
| X | g.100408006G>C | CA414009147 | PCDH19 | c.592C>G (p.Arg198Gly)
| ClinVar dbSNP |
| X | g.100408006G>T | CA414009148 | PCDH19 | c.592C>A (p.Arg198Ser)
| gnomAD v4 |
| X | g.100408007G>A | CA10468974 | PCDH19 | c.591C>T (p.Asp197=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408007G>C | CA414009150 | PCDH19 | c.591C>G (p.Asp197Glu)
| ClinVar dbSNP |
| X | g.100408007G= | CA2447976973 | PCDH19 | c.591C= (p.Asp197=)
| |
| X | g.100408007G>T | CA414009152 | PCDH19 | c.591C>A (p.Asp197Glu)
| |
| X | g.100408008T>A | CA414009156 | PCDH19 | c.590A>T (p.Asp197Val)
| |
| X | g.100408008T>C | CA414009158 | PCDH19 | c.590A>G (p.Asp197Gly)
| ClinVar dbSNP |
| X | g.100408008T>G | CA414009161 | PCDH19 | c.590A>C (p.Asp197Ala)
| |
| X | g.100408009C>A | CA414009164 | PCDH19 | c.589G>T (p.Asp197Tyr)
| |
| X | g.100408009C>G | CA414009166 | PCDH19 | c.589G>C (p.Asp197His)
| |
| X | g.100408009C>T | CA414009168 | PCDH19 | c.589G>A (p.Asp197Asn)
| gnomAD v4 |
| X | g.100408010C>A | CA517748865 | PCDH19 | c.588G>T (p.Leu196=)
| |
| X | g.100408010C>G | CA517748863 | PCDH19 | c.588G>C (p.Leu196=)
| |
| X | g.100408010C>T | CA517748864 | PCDH19 | c.588G>A (p.Leu196=)
| gnomAD v4 |
| X | g.100408011A>C | CA414009171 | PCDH19 | c.587T>G (p.Leu196Arg)
| |
| X | g.100408011A>G | CA414009174 | PCDH19 | c.587T>C (p.Leu196Pro)
| |
| X | g.100408011A>T | CA414009173 | PCDH19 | c.587T>A (p.Leu196Gln)
| |
| X | g.100408012G>A | CA517748870 | PCDH19 | c.586C>T (p.Leu196=)
| |
| X | g.100408012G>C | CA414009177 | PCDH19 | c.586C>G (p.Leu196Val)
| |
| X | g.100408012G>T | CA414009178 | PCDH19 | c.586C>A (p.Leu196Met)
| |
| X | g.100408013G>A | CA517748872 | PCDH19 | c.585C>T (p.Ser195=)
| gnomAD v4 |
| X | g.100408013G>C | CA414009182 | PCDH19 | c.585C>G (p.Ser195Arg)
| |
| X | g.100408013G>T | CA414009183 | PCDH19 | c.585C>A (p.Ser195Arg)
| gnomAD v4 |
| X | g.100408014C>A | CA414009186 | PCDH19 | c.584G>T (p.Ser195Ile)
| gnomAD v4 |
| X | g.100408014C= | CA2447976974 | PCDH19 | c.584G= (p.Ser195=)
| |
| X | g.100408014C>G | CA414009188 | PCDH19 | c.584G>C (p.Ser195Thr)
| |
| X | g.100408014C>T | CA414009190 | PCDH19 | c.584G>A (p.Ser195Asn)
| dbSNP |
| X | g.100408015T>A | CA414009193 | PCDH19 | c.583A>T (p.Ser195Cys)
| |
| X | g.100408015T>C | CA414009194 | PCDH19 | c.583A>G (p.Ser195Gly)
| |
| X | g.100408015T>G | CA414009196 | PCDH19 | c.583A>C (p.Ser195Arg)
| |
| X | g.100408016del | CA2580100072 | PCDH19 | c.582del (p.Ser195AlafsTer17)
| ClinVar |
| X | g.100408016C>A | CA414009199 | PCDH19 | c.582G>T (p.Lys194Asn)
| |
| X | g.100408016C= | CA2447976975 | PCDH19 | c.582G= (p.Lys194=)
| |
| X | g.100408016C>G | CA414009202 | PCDH19 | c.582G>C (p.Lys194Asn)
| |
| X | g.100408016C>T | CA517748223 | PCDH19 | c.582G>A (p.Lys194=)
| dbSNP gnomAD v4 |
| X | g.100408016_100408017delinsCT | CA2447976976 | PCDH19 | c.581_582delinsAG (p.Lys194=)
| |
| X | g.100408017T>A | CA414009205 | PCDH19 | c.581A>T (p.Lys194Met)
| |
| X | g.100408017T>C | CA414009209 | PCDH19 | c.581A>G (p.Lys194Arg)
| gnomAD v4 |
| X | g.100408017T>G | CA414009207 | PCDH19 | c.581A>C (p.Lys194Thr)
| |
| X | g.100408020del | CA1139667693 | PCDH19 | c.581del (p.Lys194ArgfsTer18)
| ClinVar dbSNP |
| X | g.100408018T>A | CA414009211 | PCDH19 | c.580A>T (p.Lys194Ter)
| |
| X | g.100408018T>C | CA414009214 | PCDH19 | c.580A>G (p.Lys194Glu)
| |
| X | g.100408018T>G | CA414009216 | PCDH19 | c.580A>C (p.Lys194Gln)
| |
| X | g.100408019T>A | CA414009219 | PCDH19 | c.579A>T (p.Glu193Asp)
| |
| X | g.100408019T>C | CA517748227 | PCDH19 | c.579A>G (p.Glu193=)
| dbSNP gnomAD v4 |
| X | g.100408019T>G | CA414009221 | PCDH19 | c.579A>C (p.Glu193Asp)
| |
| X | g.100408019T= | CA2447976977 | PCDH19 | c.579A= (p.Glu193=)
| |
| X | g.100408020T>A | CA414009227 | PCDH19 | c.578A>T (p.Glu193Val)
| |
| X | g.100408020T>C | CA414009225 | PCDH19 | c.578A>G (p.Glu193Gly)
| |
| X | g.100408020T>G | CA414009223 | PCDH19 | c.578A>C (p.Glu193Ala)
| |
| X | g.100408020_100408021del | CA2695234732 | PCDH19 | c.577_578del (p.Glu193LysfsTer?)
| |
| X | g.100408021C>A | CA414009230 | PCDH19 | c.577G>T (p.Glu193Ter)
| ClinVar dbSNP gnomAD v4 |
| X | g.100408021C>G | CA414009231 | PCDH19 | c.577G>C (p.Glu193Gln)
| |
| X | g.100408021C>T | CA414009233 | PCDH19 | c.577G>A (p.Glu193Lys)
| |
| X | g.100408022del | CA2695234733 | PCDH19 | c.577del (p.Glu193LysfsTer19)
| |
| X | g.100408022C>A | CA517748232 | PCDH19 | c.576G>T (p.Val192=)
| |
| X | g.100408022C>G | CA517748234 | PCDH19 | c.576G>C (p.Val192=)
| |
| X | g.100408022C>T | CA517748236 | PCDH19 | c.576G>A (p.Val192=)
| |
| X | g.100408023A>C | CA414009235 | PCDH19 | c.575T>G (p.Val192Gly)
| |
| X | g.100408023A>G | CA414009237 | PCDH19 | c.575T>C (p.Val192Ala)
| |
| X | g.100408023A>T | CA414009240 | PCDH19 | c.575T>A (p.Val192Glu)
| |
| X | g.100408024C>A | CA414009242 | PCDH19 | c.574G>T (p.Val192Leu)
| |
| X | g.100408024C= | CA2447976978 | PCDH19 | c.574G= (p.Val192=)
| |
| X | g.100408024C>G | CA414009247 | PCDH19 | c.574G>C (p.Val192Leu)
| |
| X | g.100408024C>T | CA414009244 | PCDH19 | c.574G>A (p.Val192Met)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408025C>A | CA517748242 | PCDH19 | c.573G>T (p.Val191=)
| |
| X | g.100408025C= | CA2447976979 | PCDH19 | c.573G= (p.Val191=)
| |
| X | g.100408025C>G | CA10468975 | PCDH19 | c.573G>C (p.Val191=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408025C>T | CA517748247 | PCDH19 | c.573G>A (p.Val191=)
| ClinVar gnomAD v4 |
| X | g.100408026A>C | CA414009251 | PCDH19 | c.572T>G (p.Val191Gly)
| |
| X | g.100408026A>G | CA414009254 | PCDH19 | c.572T>C (p.Val191Ala)
| |
| X | g.100408026A>T | CA414009255 | PCDH19 | c.572T>A (p.Val191Glu)
| |
| X | g.100408027_100408029dup | CA16621149 | PCDH19 | c.570_572dup (p.Val191_Val192insVal)
| ClinVar dbSNP |
| X | g.100408027C>A | CA414009257 | PCDH19 | c.571G>T (p.Val191Leu)
| |
| X | g.100408027C= | CA2447976980 | PCDH19 | c.571G= (p.Val191=)
| |
| X | g.100408027C>G | CA10468976 | PCDH19 | c.571G>C (p.Val191Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408027C>T | CA414009261 | PCDH19 | c.571G>A (p.Val191Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408028G>A | CA517748253 | PCDH19 | c.570C>T (p.Leu190=)
| dbSNP |
| X | g.100408028G>C | CA517748254 | PCDH19 | c.570C>G (p.Leu190=)
| ClinVar dbSNP gnomAD v4 |
| X | g.100408028G= | CA2447976981 | PCDH19 | c.570C= (p.Leu190=)
| |
| X | g.100408028G>T | CA517748257 | PCDH19 | c.570C>A (p.Leu190=)
| gnomAD v4 |
| X | g.100408029A>C | CA414009263 | PCDH19 | c.569T>G (p.Leu190Arg)
| |
| X | g.100408029A>G | CA414009266 | PCDH19 | c.569T>C (p.Leu190Pro)
| ClinVar dbSNP |
| X | g.100408029A>T | CA414009268 | PCDH19 | c.569T>A (p.Leu190His)
| |
| X | g.100408030G>A | CA414009274 | PCDH19 | c.568C>T (p.Leu190Phe)
| |
| X | g.100408030G>C | CA414009271 | PCDH19 | c.568C>G (p.Leu190Val)
| |
| X | g.100408030G>T | CA414009272 | PCDH19 | c.568C>A (p.Leu190Ile)
| |
| X | g.100408031T>A | CA414009277 | PCDH19 | c.567A>T (p.Glu189Asp)
| |
| X | g.100408031T>C | CA517748262 | PCDH19 | c.567A>G (p.Glu189=)
| ClinVar |
| X | g.100408031T>G | CA414009280 | PCDH19 | c.567A>C (p.Glu189Asp)
| |
| X | g.100408032T>A | CA414009283 | PCDH19 | c.566A>T (p.Glu189Val)
| |
| X | g.100408032T>C | CA414009285 | PCDH19 | c.566A>G (p.Glu189Gly)
| |
| X | g.100408032T>G | CA414009287 | PCDH19 | c.566A>C (p.Glu189Ala)
| |
| X | g.100408033C>A | CA414009290 | PCDH19 | c.565G>T (p.Glu189Ter)
| ClinVar dbSNP |
| X | g.100408033C= | CA2447976982 | PCDH19 | c.565G= (p.Glu189=)
| |
| X | g.100408033C>G | CA414009292 | PCDH19 | c.565G>C (p.Glu189Gln)
| |
| X | g.100408033C>T | CA414009295 | PCDH19 | c.565G>A (p.Glu189Lys)
| COSMIC |
| X | g.100408033_100408034delinsCG | CA2447976983 | PCDH19 | c.564_565delinsCG (p.Ala188=)
| |
| X | g.100408034G>A | CA517748271 | PCDH19 | c.564C>T (p.Ala188=)
| ClinVar dbSNP gnomAD v4 |
| X | g.100408034G>C | CA517748272 | PCDH19 | c.564C>G (p.Ala188=)
| gnomAD v4 |
| X | g.100408034G= | CA2447976984 | PCDH19 | c.564C= (p.Ala188=)
| |
| X | g.100408034G>T | CA517748273 | PCDH19 | c.564C>A (p.Ala188=)
| ClinVar dbSNP |
| X | g.100408035del | CA1139667694 | PCDH19 | c.564del (p.Glu189AsnfsTer23)
| ClinVar dbSNP |
| X | g.100408035G>A | CA414009297 | PCDH19 | c.563C>T (p.Ala188Val)
| gnomAD v4 |
| X | g.100408035G>C | CA414009301 | PCDH19 | c.563C>G (p.Ala188Gly)
| |
| X | g.100408035G>T | CA414009299 | PCDH19 | c.563C>A (p.Ala188Asp)
| gnomAD v4 |
| X | g.100408036C>A | CA414009303 | PCDH19 | c.562G>T (p.Ala188Ser)
| |
| X | g.100408036C= | CA2447976985 | PCDH19 | c.562G= (p.Ala188=)
| |
| X | g.100408036C>G | CA414009305 | PCDH19 | c.562G>C (p.Ala188Pro)
| |
| X | g.100408036C>T | CA10468977 | PCDH19 | c.562G>A (p.Ala188Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408037A= | CA2447976986 | PCDH19 | c.561T= (p.Phe187=)
| |
| X | g.100408037A>C | CA414009308 | PCDH19 | c.561T>G (p.Phe187Leu)
| |
| X | g.100408037A>G | CA517748280 | PCDH19 | c.561T>C (p.Phe187=)
| dbSNP |
| X | g.100408037A>T | CA414009310 | PCDH19 | c.561T>A (p.Phe187Leu)
| |
| X | g.100408038A>C | CA414009313 | PCDH19 | c.560T>G (p.Phe187Cys)
| |
| X | g.100408038A>G | CA414009316 | PCDH19 | c.560T>C (p.Phe187Ser)
| |
| X | g.100408038A>T | CA414009314 | PCDH19 | c.560T>A (p.Phe187Tyr)
| |
| X | g.100408039A= | CA2447976987 | PCDH19 | c.559T= (p.Phe187=)
| |
| X | g.100408039A>C | CA238713 | PCDH19 | c.559T>G (p.Phe187Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408039A>G | CA414009320 | PCDH19 | c.559T>C (p.Phe187Leu)
| |
| X | g.100408039A>T | CA414009323 | PCDH19 | c.559T>A (p.Phe187Ile)
| |
| X | g.100408040del | CA2579659333 | PCDH19 | c.558del (p.Phe187LeufsTer25)
| |
| X | g.100408040G>A | CA517748285 | PCDH19 | c.558C>T (p.Arg186=)
| |
| X | g.100408040G>C | CA517748288 | PCDH19 | c.558C>G (p.Arg186=)
| |
| X | g.100408040G>T | CA517748290 | PCDH19 | c.558C>A (p.Arg186=)
| gnomAD v4 |
| X | g.100408041C>A | CA414009326 | PCDH19 | c.557G>T (p.Arg186Leu)
| |
| X | g.100408041C>G | CA414009327 | PCDH19 | c.557G>C (p.Arg186Pro)
| |
| X | g.100408041C>T | CA414009329 | PCDH19 | c.557G>A (p.Arg186His)
| |
| X | g.100408042G>A | CA414009331 | PCDH19 | c.556C>T (p.Arg186Cys)
| gnomAD v4 |
| X | g.100408042G>C | CA414009333 | PCDH19 | c.556C>G (p.Arg186Gly)
| gnomAD v4 |
| X | g.100408042G>T | CA414009336 | PCDH19 | c.556C>A (p.Arg186Ser)
| gnomAD v4 |
| X | g.100408043G>A | CA517748295 | PCDH19 | c.555C>T (p.Ser185=)
| dbSNP gnomAD v4 |
| X | g.100408043G>C | CA517748299 | PCDH19 | c.555C>G (p.Ser185=)
| |
| X | g.100408043G>T | CA517748297 | PCDH19 | c.555C>A (p.Ser185=)
| |
| X | g.100408044G>A | CA333826093 | PCDH19 | c.554C>T (p.Ser185Phe)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.100408044G>C | CA414009340 | PCDH19 | c.554C>G (p.Ser185Cys)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408044G= | CA2447976988 | PCDH19 | c.554C= (p.Ser185=)
| |
| X | g.100408044G>T | CA414009342 | PCDH19 | c.554C>A (p.Ser185Tyr)
| gnomAD v3 gnomAD v4 |
| X | g.100408045A= | CA2447976989 | PCDH19 | c.553T= (p.Ser185=)
| |
| X | g.100408045A>C | CA414009348 | PCDH19 | c.553T>G (p.Ser185Ala)
| |
| X | g.100408045A>G | CA333826094 | PCDH19 | c.553T>C (p.Ser185Pro)
| dbSNP |
| X | g.100408045A>T | CA414009346 | PCDH19 | c.553T>A (p.Ser185Thr)
| |
| X | g.100408045dup | CA2695234734 | PCDH19 | c.553dup (p.Ser185PhefsTer?)
| |
| X | g.100408046G>A | CA517748310 | PCDH19 | c.552C>T (p.Gly184=)
| |
| X | g.100408046G>C | CA517748312 | PCDH19 | c.552C>G (p.Gly184=)
| |
| X | g.100408046G= | CA2447976990 | PCDH19 | c.552C= (p.Gly184=)
| |
| X | g.100408046G>T | CA10468978 | PCDH19 | c.552C>A (p.Gly184=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408047C>A | CA414009353 | PCDH19 | c.551G>T (p.Gly184Val)
| gnomAD v4 |
| X | g.100408047C>G | CA414009355 | PCDH19 | c.551G>C (p.Gly184Ala)
| |
| X | g.100408047C>T | CA414009357 | PCDH19 | c.551G>A (p.Gly184Asp)
| gnomAD v4 |
| X | g.100408048C>A | CA414009360 | PCDH19 | c.550G>T (p.Gly184Cys)
| |
| X | g.100408048C= | CA2447976991 | PCDH19 | c.550G= (p.Gly184=)
| |
| X | g.100408048C>G | CA414009361 | PCDH19 | c.550G>C (p.Gly184Arg)
| |
| X | g.100408048C>T | CA10468979 | PCDH19 | c.550G>A (p.Gly184Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408049G>A | CA517748330 | PCDH19 | c.549C>T (p.Asp183=)
| gnomAD v4 |
| X | g.100408049G>C | CA414009363 | PCDH19 | c.549C>G (p.Asp183Glu)
| |
| X | g.100408049G>T | CA414009362 | PCDH19 | c.549C>A (p.Asp183Glu)
| gnomAD v4 |
| X | g.100408050T>A | CA414009364 | PCDH19 | c.548A>T (p.Asp183Val)
| |
| X | g.100408050T>C | CA414009365 | PCDH19 | c.548A>G (p.Asp183Gly)
| gnomAD v4 |
| X | g.100408050T>G | CA414009366 | PCDH19 | c.548A>C (p.Asp183Ala)
| |
| X | g.100408051C>A | CA414009367 | PCDH19 | c.547G>T (p.Asp183Tyr)
| gnomAD v4 |
| X | g.100408051C>G | CA414009368 | PCDH19 | c.547G>C (p.Asp183His)
| |
| X | g.100408051C>T | CA414009369 | PCDH19 | c.547G>A (p.Asp183Asn)
| gnomAD v4 |
| X | g.100408052G>A | CA333826095 | PCDH19 | c.546C>T (p.Gly182=)
| dbSNP gnomAD v4 |
| X | g.100408052G>C | CA517748341 | PCDH19 | c.546C>G (p.Gly182=)
| |
| X | g.100408052G= | CA2447976992 | PCDH19 | c.546C= (p.Gly182=)
| |
| X | g.100408052G>T | CA517748342 | PCDH19 | c.546C>A (p.Gly182=)
| gnomAD v4 |
| X | g.100408053C>A | CA414009370 | PCDH19 | c.545G>T (p.Gly182Val)
| |
| X | g.100408053C= | CA2447976993 | PCDH19 | c.545G= (p.Gly182=)
| |
| X | g.100408053C>G | CA234492 | PCDH19 | c.545G>C (p.Gly182Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408053C>T | CA414009371 | PCDH19 | c.545G>A (p.Gly182Asp)
| |
| X | g.100408054C>A | CA414009372 | PCDH19 | c.544G>T (p.Gly182Cys)
| |
| X | g.100408054C= | CA2447976994 | PCDH19 | c.544G= (p.Gly182=)
| |
| X | g.100408054C>G | CA10468980 | PCDH19 | c.544G>C (p.Gly182Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408054C>T | CA414009373 | PCDH19 | c.544G>A (p.Gly182Ser)
| gnomAD v4 |
| X | g.100408058_100408059del | CA2580612442 | PCDH19 | c.543_544del (p.Gly182ArgfsTer?)
| ClinVar |
| X | g.100408055G>A | CA517748352 | PCDH19 | c.543C>T (p.Arg181=)
| gnomAD v4 |
| X | g.100408055G>C | CA517748353 | PCDH19 | c.543C>G (p.Arg181=)
| gnomAD v4 |
| X | g.100408055G= | CA2447976995 | PCDH19 | c.543C= (p.Arg181=)
| |
| X | g.100408055G>T | CA10468981 | PCDH19 | c.543C>A (p.Arg181=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408056C>A | CA414009374 | PCDH19 | c.542G>T (p.Arg181Leu)
| |
| X | g.100408056C>G | CA414009375 | PCDH19 | c.542G>C (p.Arg181Pro)
| |
| X | g.100408056C>T | CA414009376 | PCDH19 | c.542G>A (p.Arg181His)
| |
| X | g.100408057G>A | CA414009377 | PCDH19 | c.541C>T (p.Arg181Cys)
| |
| X | g.100408057G>C | CA414009378 | PCDH19 | c.541C>G (p.Arg181Gly)
| |
| X | g.100408057G>T | CA414009379 | PCDH19 | c.541C>A (p.Arg181Ser)
| gnomAD v4 |
| X | g.100408058C>A | CA517748364 | PCDH19 | c.540G>T (p.Thr180=)
| ClinVar |
| X | g.100408058C= | CA2447976996 | PCDH19 | c.540G= (p.Thr180=)
| |
| X | g.100408058C>G | CA517748365 | PCDH19 | c.540G>C (p.Thr180=)
| |
| X | g.100408058C>T | CA10468982 | PCDH19 | c.540G>A (p.Thr180=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.100408059G>A | CA414009380 | PCDH19 | c.539C>T (p.Thr180Met)
| |
| X | g.100408059G>C | CA316307 | PCDH19 | c.539C>G (p.Thr180Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408059G= | CA2447976997 | PCDH19 | c.539C= (p.Thr180=)
| |
| X | g.100408059G>T | CA414009381 | PCDH19 | c.539C>A (p.Thr180Lys)
| ClinVar dbSNP |
| X | g.100408060T>A | CA414009382 | PCDH19 | c.538A>T (p.Thr180Ser)
| |
| X | g.100408060T>C | CA414009384 | PCDH19 | c.538A>G (p.Thr180Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408060T>G | CA414009383 | PCDH19 | c.538A>C (p.Thr180Pro)
| |
| X | g.100408060T= | CA2447976998 | PCDH19 | c.538A= (p.Thr180=)
| |
| X | g.100408061C>A | CA414009385 | PCDH19 | c.537G>T (p.Lys179Asn)
| |
| X | g.100408061C>G | CA414009386 | PCDH19 | c.537G>C (p.Lys179Asn)
| |
| X | g.100408061C>T | CA517748371 | PCDH19 | c.537G>A (p.Lys179=)
| |
| X | g.100408062T>A | CA414009388 | PCDH19 | c.536A>T (p.Lys179Met)
| |
| X | g.100408062T>C | CA414009389 | PCDH19 | c.536A>G (p.Lys179Arg)
| |
| X | g.100408062T>G | CA414009390 | PCDH19 | c.536A>C (p.Lys179Thr)
| |
| X | g.100408063T>A | CA414009391 | PCDH19 | c.535A>T (p.Lys179Ter)
| ClinVar dbSNP |
| X | g.100408063T>C | CA414009392 | PCDH19 | c.535A>G (p.Lys179Glu)
| |
| X | g.100408063T>G | CA414009393 | PCDH19 | c.535A>C (p.Lys179Gln)
| dbSNP |
| X | g.100408063T= | CA2447976999 | PCDH19 | c.535A= (p.Lys179=)
| |
| X | g.100408064G>A | CA517748382 | PCDH19 | c.534C>T (p.Ile178=)
| |
| X | g.100408064G>C | CA414009394 | PCDH19 | c.534C>G (p.Ile178Met)
| ClinVar gnomAD v4 |
| X | g.100408064G= | CA2447977000 | PCDH19 | c.534C= (p.Ile178=)
| |
| X | g.100408064G>T | CA10468983 | PCDH19 | c.534C>A (p.Ile178=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408064_100408065delinsGA | CA2447977001 | PCDH19 | c.533_534delinsTC (p.Ile178=)
| |
| X | g.100408065del | CA916083984 | PCDH19 | c.533del (p.Ile178ThrfsTer?)
| ClinVar dbSNP |
| X | g.100408065A= | CA2447977002 | PCDH19 | c.533T= (p.Ile178=)
| |
| X | g.100408065A>C | CA414009397 | PCDH19 | c.533T>G (p.Ile178Ser)
| dbSNP gnomAD v4 COSMIC |
| X | g.100408065A>G | CA414009396 | PCDH19 | c.533T>C (p.Ile178Thr)
| |
| X | g.100408065A>T | CA414009395 | PCDH19 | c.533T>A (p.Ile178Asn)
| |
| X | g.100408066T>A | CA414009398 | PCDH19 | c.532A>T (p.Ile178Phe)
| |
| X | g.100408066T>C | CA414009399 | PCDH19 | c.532A>G (p.Ile178Val)
| |
| X | g.100408066T>G | CA414009400 | PCDH19 | c.532A>C (p.Ile178Leu)
| |
| X | g.100408067C>A | CA414009401 | PCDH19 | c.531G>T (p.Glu177Asp)
| |
| X | g.100408067C= | CA2447977003 | PCDH19 | c.531G= (p.Glu177=)
| |
| X | g.100408067C>G | CA414009402 | PCDH19 | c.531G>C (p.Glu177Asp)
| |
| X | g.100408067C>T | CA295138 | PCDH19 | c.531G>A (p.Glu177=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408068T>A | CA414009403 | PCDH19 | c.530A>T (p.Glu177Val)
| |
| X | g.100408068T>C | CA414009405 | PCDH19 | c.530A>G (p.Glu177Gly)
| |
| X | g.100408068T>G | CA414009407 | PCDH19 | c.530A>C (p.Glu177Ala)
| |
| X | g.100408069C>A | CA414009410 | PCDH19 | c.529G>T (p.Glu177Ter)
| |
| X | g.100408069C= | CA2447977004 | PCDH19 | c.529G= (p.Glu177=)
| |
| X | g.100408069C>G | CA414009412 | PCDH19 | c.529G>C (p.Glu177Gln)
| ClinVar dbSNP gnomAD v4 |
| X | g.100408069C>T | CA414009413 | PCDH19 | c.529G>A (p.Glu177Lys)
| |
| X | g.100408070C>A | CA333826096 | PCDH19 | c.528G>T (p.Leu176=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408070C= | CA2447977005 | PCDH19 | c.528G= (p.Leu176=)
| |
| X | g.100408070C>G | CA517748400 | PCDH19 | c.528G>C (p.Leu176=)
| |
| X | g.100408070C>T | CA517748401 | PCDH19 | c.528G>A (p.Leu176=)
| |
| X | g.100408071A>C | CA414009417 | PCDH19 | c.527T>G (p.Leu176Arg)
| |
| X | g.100408071A>G | CA414009419 | PCDH19 | c.527T>C (p.Leu176Pro)
| |
| X | g.100408071A>T | CA414009415 | PCDH19 | c.527T>A (p.Leu176Gln)
| |
| X | g.100408072G>A | CA10468984 | PCDH19 | c.526C>T (p.Leu176=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408072G>C | CA414009424 | PCDH19 | c.526C>G (p.Leu176Val)
| |
| X | g.100408072G= | CA2447977006 | PCDH19 | c.526C= (p.Leu176=)
| |
| X | g.100408072G>T | CA414009426 | PCDH19 | c.526C>A (p.Leu176Met)
| gnomAD v4 |
| X | g.100408073G>A | CA517748414 | PCDH19 | c.525C>T (p.Gly175=)
| |
| X | g.100408073G>C | CA517748413 | PCDH19 | c.525C>G (p.Gly175=)
| |
| X | g.100408073G>T | CA517748407 | PCDH19 | c.525C>A (p.Gly175=)
| gnomAD v4 |
| X | g.100408073_100408074delinsGC | CA2447977007 | PCDH19 | c.524_525delinsGC (p.Gly175=)
| |
| X | g.100408075_100408082del | CA2695234735 | PCDH19 | c.518_525del (p.Leu173ProfsTer?)
| |
| X | g.100408074C>A | CA414009429 | PCDH19 | c.524G>T (p.Gly175Val)
| |
| X | g.100408074C>G | CA414009431 | PCDH19 | c.524G>C (p.Gly175Ala)
| |
| X | g.100408074C>T | CA414009432 | PCDH19 | c.524G>A (p.Gly175Asp)
| gnomAD v4 |
| X | g.100408075del | CA316399 | PCDH19 | c.524del (p.Gly175AlafsTer?)
| ClinVar dbSNP |
| X | g.100408075C>A | CA414009436 | PCDH19 | c.523G>T (p.Gly175Cys)
| |
| X | g.100408075C>G | CA414009438 | PCDH19 | c.523G>C (p.Gly175Arg)
| |
| X | g.100408075C>T | CA414009440 | PCDH19 | c.523G>A (p.Gly175Ser)
| gnomAD v4 |
| X | g.100408076G>A | CA517748428 | PCDH19 | c.522C>T (p.Phe174=)
| dbSNP gnomAD v4 |
| X | g.100408076G>C | CA414009442 | PCDH19 | c.522C>G (p.Phe174Leu)
| |
| X | g.100408076G= | CA2447977008 | PCDH19 | c.522C= (p.Phe174=)
| |
| X | g.100408076G>T | CA414009444 | PCDH19 | c.522C>A (p.Phe174Leu)
| gnomAD v4 |
| X | g.100408077A>C | CA414009447 | PCDH19 | c.521T>G (p.Phe174Cys)
| |
| X | g.100408077A>G | CA414009448 | PCDH19 | c.521T>C (p.Phe174Ser)
| |
| X | g.100408077A>T | CA414009446 | PCDH19 | c.521T>A (p.Phe174Tyr)
| |
| X | g.100408078A>C | CA414009449 | PCDH19 | c.520T>G (p.Phe174Val)
| |
| X | g.100408078A>G | CA414009450 | PCDH19 | c.520T>C (p.Phe174Leu)
| |
| X | g.100408078A>T | CA414009451 | PCDH19 | c.520T>A (p.Phe174Ile)
| |
| X | g.100408079C>A | CA517748444 | PCDH19 | c.519G>T (p.Leu173=)
| gnomAD v4 |
| X | g.100408079C= | CA2447977009 | PCDH19 | c.519G= (p.Leu173=)
| |
| X | g.100408079C>G | CA517748446 | PCDH19 | c.519G>C (p.Leu173=)
| |
| X | g.100408079C>T | CA517748445 | PCDH19 | c.519G>A (p.Leu173=)
| dbSNP gnomAD v2 |
| X | g.100408080A= | CA2447977010 | PCDH19 | c.518T= (p.Leu173=)
| |
| X | g.100408080A>C | CA414009452 | PCDH19 | c.518T>G (p.Leu173Arg)
| |
| X | g.100408080A>G | CA414009453 | PCDH19 | c.518T>C (p.Leu173Pro)
| gnomAD v4 |
| X | g.100408080A>T | CA414009454 | PCDH19 | c.518T>A (p.Leu173Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408081G>A | CA517748455 | PCDH19 | c.517C>T (p.Leu173=)
| dbSNP gnomAD v4 |
| X | g.100408081G>C | CA414009455 | PCDH19 | c.517C>G (p.Leu173Val)
| |
| X | g.100408081G= | CA2447977011 | PCDH19 | c.517C= (p.Leu173=)
| |
| X | g.100408081G>T | CA414009456 | PCDH19 | c.517C>A (p.Leu173Met)
| |
| X | g.100408082C>A | CA414009457 | PCDH19 | c.516G>T (p.Glu172Asp)
| |
| X | g.100408082C= | CA2447977012 | PCDH19 | c.516G= (p.Glu172=)
| |
| X | g.100408082C>G | CA10468985 | PCDH19 | c.516G>C (p.Glu172Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408082C>T | CA517748463 | PCDH19 | c.516G>A (p.Glu172=)
| |
| X | g.100408083del | CA2580100079 | PCDH19 | c.515del (p.Glu172GlyfsTer?)
| ClinVar |
| X | g.100408083T>A | CA414009458 | PCDH19 | c.515A>T (p.Glu172Val)
| |
| X | g.100408083T>C | CA414009459 | PCDH19 | c.515A>G (p.Glu172Gly)
| |
| X | g.100408083T>G | CA414009460 | PCDH19 | c.515A>C (p.Glu172Ala)
| |
| X | g.100408084C>A | CA414009463 | PCDH19 | c.514G>T (p.Glu172Ter)
| ClinVar dbSNP |
| X | g.100408084C= | CA2447977013 | PCDH19 | c.514G= (p.Glu172=)
| |
| X | g.100408084C>G | CA414009461 | PCDH19 | c.514G>C (p.Glu172Gln)
| |
| X | g.100408084C>T | CA414009462 | PCDH19 | c.514G>A (p.Glu172Lys)
| |
| X | g.100408084dup | CA2695234736 | PCDH19 | c.514dup (p.Glu172GlyfsTer?)
| |
| X | g.100408084_100408108delinsCGTTGGGCGTGAGCTCGTAAGTCTG | CA2447977014 | PCDH19 | c.490_514delinsCAGACTTACGAGCTCACGCCCAACG (p.Gln164=)
| |
| X | g.100408085G>A | CA316236 | PCDH19 | c.513C>T (p.Asn171=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.100408085G>C | CA414009465 | PCDH19 | c.513C>G (p.Asn171Lys)
| ClinVar dbSNP gnomAD v4 |
| X | g.100408085G= | CA2447977015 | PCDH19 | c.513C= (p.Asn171=)
| |
| X | g.100408085G>T | CA414009464 | PCDH19 | c.513C>A (p.Asn171Lys)
| gnomAD v4 |
| X | g.100408085_100408108del | CA1139667695 | PCDH19 | c.490_513del (p.Gln164_Asn171del)
| ClinVar dbSNP |
