| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.100342005C>A | CA414000081 | PCDH19 | c.2605G>T (p.Asp869Tyr) c.2746G>T (p.Asp916Tyr) c.2602G>T (p.Asp868Tyr) c.2743G>T (p.Asp915Tyr) | |
| X | g.100342005C>G | CA414000080 | PCDH19 | c.2605G>C (p.Asp869His) c.2746G>C (p.Asp916His) c.2602G>C (p.Asp868His) c.2743G>C (p.Asp915His) | |
| X | g.100342005C>T | CA414000078 | PCDH19 | c.2605G>A (p.Asp869Asn) c.2746G>A (p.Asp916Asn) c.2602G>A (p.Asp868Asn) c.2743G>A (p.Asp915Asn) | |
| X | g.100342006A>C | CA517696949 | PCDH19 | c.2604T>G (p.Thr868=) c.2745T>G (p.Thr915=) c.2601T>G (p.Thr867=) c.2742T>G (p.Thr914=) | |
| X | g.100342006A>G | CA517696951 | PCDH19 | c.2604T>C (p.Thr868=) c.2745T>C (p.Thr915=) c.2601T>C (p.Thr867=) c.2742T>C (p.Thr914=) | |
| X | g.100342006A>T | CA517696953 | PCDH19 | c.2604T>A (p.Thr868=) c.2745T>A (p.Thr915=) c.2601T>A (p.Thr867=) c.2742T>A (p.Thr914=) | |
| X | g.100342007G>A | CA414000083 | PCDH19 | c.2603C>T (p.Thr868Ile) c.2744C>T (p.Thr915Ile) c.2600C>T (p.Thr867Ile) c.2741C>T (p.Thr914Ile) | |
| X | g.100342007G>C | CA414000085 | PCDH19 | c.2603C>G (p.Thr868Ser) c.2744C>G (p.Thr915Ser) c.2600C>G (p.Thr867Ser) c.2741C>G (p.Thr914Ser) | |
| X | g.100342007G>T | CA414000087 | PCDH19 | c.2603C>A (p.Thr868Asn) c.2744C>A (p.Thr915Asn) c.2600C>A (p.Thr867Asn) c.2741C>A (p.Thr914Asn) | |
| X | g.100342008T>A | CA414000088 | PCDH19 | c.2602A>T (p.Thr868Ser) c.2743A>T (p.Thr915Ser) c.2599A>T (p.Thr867Ser) c.2740A>T (p.Thr914Ser) | |
| X | g.100342008T>C | CA414000089 | PCDH19 | c.2602A>G (p.Thr868Ala) c.2743A>G (p.Thr915Ala) c.2599A>G (p.Thr867Ala) c.2740A>G (p.Thr914Ala) | |
| X | g.100342008T>G | CA414000091 | PCDH19 | c.2602A>C (p.Thr868Pro) c.2743A>C (p.Thr915Pro) c.2599A>C (p.Thr867Pro) c.2740A>C (p.Thr914Pro) | |
| X | g.100342009T>A | CA414000093 | PCDH19 | c.2601A>T (p.Gln867His) c.2742A>T (p.Gln914His) c.2598A>T (p.Gln866His) c.2739A>T (p.Gln913His) | |
| X | g.100342009T>C | CA172950 | PCDH19 | c.2601A>G (p.Gln867=) c.2742A>G (p.Gln914=) c.2598A>G (p.Gln866=) c.2739A>G (p.Gln913=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100342009T>G | CA414000095 | PCDH19 | c.2601A>C (p.Gln867His) c.2742A>C (p.Gln914His) c.2598A>C (p.Gln866His) c.2739A>C (p.Gln913His) | |
| X | g.100342009T= | CA2447955688 | PCDH19 | c.2601A= (p.Gln867=) c.2742A= (p.Gln914=) c.2598A= (p.Gln866=) c.2739A= (p.Gln913=) | |
| X | g.100342010T>A | CA414000097 | PCDH19 | c.2600A>T (p.Gln867Leu) c.2741A>T (p.Gln914Leu) c.2597A>T (p.Gln866Leu) c.2738A>T (p.Gln913Leu) | |
| X | g.100342010T>C | CA414000098 | PCDH19 | c.2600A>G (p.Gln867Arg) c.2741A>G (p.Gln914Arg) c.2597A>G (p.Gln866Arg) c.2738A>G (p.Gln913Arg) | |
| X | g.100342010T>G | CA414000100 | PCDH19 | c.2600A>C (p.Gln867Pro) c.2741A>C (p.Gln914Pro) c.2597A>C (p.Gln866Pro) c.2738A>C (p.Gln913Pro) | |
| X | g.100342011G>A | CA414000102 | PCDH19 | c.2599C>T (p.Gln867Ter) c.2740C>T (p.Gln914Ter) c.2596C>T (p.Gln866Ter) c.2737C>T (p.Gln913Ter) | ClinVar dbSNP |
| X | g.100342011G>C | CA414000104 | PCDH19 | c.2599C>G (p.Gln867Glu) c.2740C>G (p.Gln914Glu) c.2596C>G (p.Gln866Glu) c.2737C>G (p.Gln913Glu) | |
| X | g.100342011G= | CA2447955689 | PCDH19 | c.2599C= (p.Gln867=) c.2740C= (p.Gln914=) c.2596C= (p.Gln866=) c.2737C= (p.Gln913=) | |
| X | g.100342011G>T | CA414000105 | PCDH19 | c.2599C>A (p.Gln867Lys) c.2740C>A (p.Gln914Lys) c.2596C>A (p.Gln866Lys) c.2737C>A (p.Gln913Lys) | |
| X | g.100342012G>A | CA517696974 | PCDH19 | c.2598C>T (p.Asp866=) c.2739C>T (p.Asp913=) c.2595C>T (p.Asp865=) c.2736C>T (p.Asp912=) | |
| X | g.100342012G>C | CA414000107 | PCDH19 | c.2598C>G (p.Asp866Glu) c.2739C>G (p.Asp913Glu) c.2595C>G (p.Asp865Glu) c.2736C>G (p.Asp912Glu) | |
| X | g.100342012G>T | CA414000109 | PCDH19 | c.2598C>A (p.Asp866Glu) c.2739C>A (p.Asp913Glu) c.2595C>A (p.Asp865Glu) c.2736C>A (p.Asp912Glu) | |
| X | g.100342013T>A | CA414000111 | PCDH19 | c.2597A>T (p.Asp866Val) c.2738A>T (p.Asp913Val) c.2594A>T (p.Asp865Val) c.2735A>T (p.Asp912Val) | |
| X | g.100342013T>C | CA414000112 | PCDH19 | c.2597A>G (p.Asp866Gly) c.2738A>G (p.Asp913Gly) c.2594A>G (p.Asp865Gly) c.2735A>G (p.Asp912Gly) | |
| X | g.100342013T>G | CA414000113 | PCDH19 | c.2597A>C (p.Asp866Ala) c.2738A>C (p.Asp913Ala) c.2594A>C (p.Asp865Ala) c.2735A>C (p.Asp912Ala) | |
| X | g.100342014C>A | CA414000116 | PCDH19 | c.2596G>T (p.Asp866Tyr) c.2737G>T (p.Asp913Tyr) c.2593G>T (p.Asp865Tyr) c.2734G>T (p.Asp912Tyr) | |
| X | g.100342014C>G | CA414000115 | PCDH19 | c.2596G>C (p.Asp866His) c.2737G>C (p.Asp913His) c.2593G>C (p.Asp865His) c.2734G>C (p.Asp912His) | |
| X | g.100342014C>T | CA414000114 | PCDH19 | c.2596G>A (p.Asp866Asn) c.2737G>A (p.Asp913Asn) c.2593G>A (p.Asp865Asn) c.2734G>A (p.Asp912Asn) | gnomAD v4 |
| X | g.100342015A>C | CA414000118 | PCDH19 | c.2595T>G (p.Ser865Arg) c.2736T>G (p.Ser912Arg) c.2592T>G (p.Ser864Arg) c.2733T>G (p.Ser911Arg) | |
| X | g.100342015A>G | CA517696988 | PCDH19 | c.2595T>C (p.Ser865=) c.2736T>C (p.Ser912=) c.2592T>C (p.Ser864=) c.2733T>C (p.Ser911=) | |
| X | g.100342015A>T | CA414000119 | PCDH19 | c.2595T>A (p.Ser865Arg) c.2736T>A (p.Ser912Arg) c.2592T>A (p.Ser864Arg) c.2733T>A (p.Ser911Arg) | |
| X | g.100342016C>A | CA414000120 | PCDH19 | c.2594G>T (p.Ser865Ile) c.2735G>T (p.Ser912Ile) c.2591G>T (p.Ser864Ile) c.2732G>T (p.Ser911Ile) | |
| X | g.100342016C= | CA2447955690 | PCDH19 | c.2594G= (p.Ser865=) c.2735G= (p.Ser912=) c.2591G= (p.Ser864=) c.2732G= (p.Ser911=) | |
| X | g.100342016C>G | CA414000122 | PCDH19 | c.2594G>C (p.Ser865Thr) c.2735G>C (p.Ser912Thr) c.2591G>C (p.Ser864Thr) c.2732G>C (p.Ser911Thr) | |
| X | g.100342016C>T | CA10468715 | PCDH19 | c.2594G>A (p.Ser865Asn) c.2735G>A (p.Ser912Asn) c.2591G>A (p.Ser864Asn) c.2732G>A (p.Ser911Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100342017T>A | CA414000124 | PCDH19 | c.2593A>T (p.Ser865Cys) c.2734A>T (p.Ser912Cys) c.2590A>T (p.Ser864Cys) c.2731A>T (p.Ser911Cys) | |
| X | g.100342017T>C | CA414000126 | PCDH19 | c.2593A>G (p.Ser865Gly) c.2734A>G (p.Ser912Gly) c.2590A>G (p.Ser864Gly) c.2731A>G (p.Ser911Gly) | |
| X | g.100342017T>G | CA414000127 | PCDH19 | c.2593A>C (p.Ser865Arg) c.2734A>C (p.Ser912Arg) c.2590A>C (p.Ser864Arg) c.2731A>C (p.Ser911Arg) | |
| X | g.100342018C>A | CA333821206 | PCDH19 | c.2592G>T (p.Glu864Asp) c.2733G>T (p.Glu911Asp) c.2589G>T (p.Glu863Asp) c.2730G>T (p.Glu910Asp) | dbSNP gnomAD v4 |
| X | g.100342018C= | CA2447955691 | PCDH19 | c.2592G= (p.Glu864=) c.2733G= (p.Glu911=) c.2589G= (p.Glu863=) c.2730G= (p.Glu910=) | |
| X | g.100342018C>G | CA414000130 | PCDH19 | c.2592G>C (p.Glu864Asp) c.2733G>C (p.Glu911Asp) c.2589G>C (p.Glu863Asp) c.2730G>C (p.Glu910Asp) | |
| X | g.100342018C>T | CA517697012 | PCDH19 | c.2592G>A (p.Glu864=) c.2733G>A (p.Glu911=) c.2589G>A (p.Glu863=) c.2730G>A (p.Glu910=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100342019T>A | CA414000131 | PCDH19 | c.2591A>T (p.Glu864Val) c.2732A>T (p.Glu911Val) c.2588A>T (p.Glu863Val) c.2729A>T (p.Glu910Val) | |
| X | g.100342019T>C | CA414000133 | PCDH19 | c.2591A>G (p.Glu864Gly) c.2732A>G (p.Glu911Gly) c.2588A>G (p.Glu863Gly) c.2729A>G (p.Glu910Gly) | |
| X | g.100342019T>G | CA414000135 | PCDH19 | c.2591A>C (p.Glu864Ala) c.2732A>C (p.Glu911Ala) c.2588A>C (p.Glu863Ala) c.2729A>C (p.Glu910Ala) | |
| X | g.100342020C>A | CA414000137 | PCDH19 | c.2590G>T (p.Glu864Ter) c.2731G>T (p.Glu911Ter) c.2587G>T (p.Glu863Ter) c.2728G>T (p.Glu910Ter) | COSMIC COSMIC |
| X | g.100342020C>G | CA414000138 | PCDH19 | c.2590G>C (p.Glu864Gln) c.2731G>C (p.Glu911Gln) c.2587G>C (p.Glu863Gln) c.2728G>C (p.Glu910Gln) | |
| X | g.100342020C>T | CA414000139 | PCDH19 | c.2590G>A (p.Glu864Lys) c.2731G>A (p.Glu911Lys) c.2587G>A (p.Glu863Lys) c.2728G>A (p.Glu910Lys) | |
| X | g.100342021C>A | CA414000142 | PCDH19 | c.2589G>T (p.Glu863Asp) c.2730G>T (p.Glu910Asp) c.2586G>T (p.Glu862Asp) c.2727G>T (p.Glu909Asp) | |
| X | g.100342021C= | CA2447955692 | PCDH19 | c.2589G= (p.Glu863=) c.2730G= (p.Glu910=) c.2586G= (p.Glu862=) c.2727G= (p.Glu909=) | |
| X | g.100342021C>G | CA414000143 | PCDH19 | c.2589G>C (p.Glu863Asp) c.2730G>C (p.Glu910Asp) c.2586G>C (p.Glu862Asp) c.2727G>C (p.Glu909Asp) | ClinVar |
| X | g.100342021C>T | CA517697020 | PCDH19 | c.2589G>A (p.Glu863=) c.2730G>A (p.Glu910=) c.2586G>A (p.Glu862=) c.2727G>A (p.Glu909=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100342022T>A | CA414000145 | PCDH19 | c.2588A>T (p.Glu863Val) c.2729A>T (p.Glu910Val) c.2585A>T (p.Glu862Val) c.2726A>T (p.Glu909Val) | |
| X | g.100342022T>C | CA414000147 | PCDH19 | c.2588A>G (p.Glu863Gly) c.2729A>G (p.Glu910Gly) c.2585A>G (p.Glu862Gly) c.2726A>G (p.Glu909Gly) | |
| X | g.100342022T>G | CA414000148 | PCDH19 | c.2588A>C (p.Glu863Ala) c.2729A>C (p.Glu910Ala) c.2585A>C (p.Glu862Ala) c.2726A>C (p.Glu909Ala) | |
| X | g.100342023C>A | CA414000150 | PCDH19 | c.2587G>T (p.Glu863Ter) c.2728G>T (p.Glu910Ter) c.2584G>T (p.Glu862Ter) c.2725G>T (p.Glu909Ter) | ClinVar dbSNP |
| X | g.100342023C>G | CA414000151 | PCDH19 | c.2587G>C (p.Glu863Gln) c.2728G>C (p.Glu910Gln) c.2584G>C (p.Glu862Gln) c.2725G>C (p.Glu909Gln) | |
| X | g.100342023C>T | CA414000153 | PCDH19 | c.2587G>A (p.Glu863Lys) c.2728G>A (p.Glu910Lys) c.2584G>A (p.Glu862Lys) c.2725G>A (p.Glu909Lys) | COSMIC COSMIC |
| X | g.100342024A>C | CA414000155 | PCDH19 | c.2586T>G (p.His862Gln) c.2727T>G (p.His909Gln) c.2583T>G (p.His861Gln) c.2724T>G (p.His908Gln) | |
| X | g.100342024A>G | CA517697030 | PCDH19 | c.2586T>C (p.His862=) c.2727T>C (p.His909=) c.2583T>C (p.His861=) c.2724T>C (p.His908=) | |
| X | g.100342024A>T | CA414000157 | PCDH19 | c.2586T>A (p.His862Gln) c.2727T>A (p.His909Gln) c.2583T>A (p.His861Gln) c.2724T>A (p.His908Gln) | |
| X | g.100342025T>A | CA414000158 | PCDH19 | c.2585A>T (p.His862Leu) c.2726A>T (p.His909Leu) c.2582A>T (p.His861Leu) c.2723A>T (p.His908Leu) | |
| X | g.100342025T>C | CA10468716 | PCDH19 | c.2585A>G (p.His862Arg) c.2726A>G (p.His909Arg) c.2582A>G (p.His861Arg) c.2723A>G (p.His908Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100342025T>G | CA414000161 | PCDH19 | c.2585A>C (p.His862Pro) c.2726A>C (p.His909Pro) c.2582A>C (p.His861Pro) c.2723A>C (p.His908Pro) | |
| X | g.100342025T= | CA2447955693 | PCDH19 | c.2585A= (p.His862=) c.2726A= (p.His909=) c.2582A= (p.His861=) c.2723A= (p.His908=) | |
| X | g.100342026G>A | CA414000165 | PCDH19 | c.2584C>T (p.His862Tyr) c.2725C>T (p.His909Tyr) c.2581C>T (p.His861Tyr) c.2722C>T (p.His908Tyr) | |
| X | g.100342026G>C | CA414000164 | PCDH19 | c.2584C>G (p.His862Asp) c.2725C>G (p.His909Asp) c.2581C>G (p.His861Asp) c.2722C>G (p.His908Asp) | |
| X | g.100342026G>T | CA414000162 | PCDH19 | c.2584C>A (p.His862Asn) c.2725C>A (p.His909Asn) c.2581C>A (p.His861Asn) c.2722C>A (p.His908Asn) | |
| X | g.100342027T>A | CA517697049 | PCDH19 | c.2583A>T (p.Gly861=) c.2724A>T (p.Gly908=) c.2580A>T (p.Gly860=) c.2721A>T (p.Gly907=) | |
| X | g.100342027T>C | CA517697050 | PCDH19 | c.2583A>G (p.Gly861=) c.2724A>G (p.Gly908=) c.2580A>G (p.Gly860=) c.2721A>G (p.Gly907=) | |
| X | g.100342027T>G | CA517697051 | PCDH19 | c.2583A>C (p.Gly861=) c.2724A>C (p.Gly908=) c.2580A>C (p.Gly860=) c.2721A>C (p.Gly907=) | |
| X | g.100342028C>A | CA414000168 | PCDH19 | c.2582G>T (p.Gly861Val) c.2723G>T (p.Gly908Val) c.2579G>T (p.Gly860Val) c.2720G>T (p.Gly907Val) | |
| X | g.100342028C>G | CA414000169 | PCDH19 | c.2582G>C (p.Gly861Ala) c.2723G>C (p.Gly908Ala) c.2579G>C (p.Gly860Ala) c.2720G>C (p.Gly907Ala) | |
| X | g.100342028C>T | CA414000171 | PCDH19 | c.2582G>A (p.Gly861Glu) c.2723G>A (p.Gly908Glu) c.2579G>A (p.Gly860Glu) c.2720G>A (p.Gly907Glu) | |
| X | g.100342029C>A | CA414000172 | PCDH19 | c.2581G>T (p.Gly861Ter) c.2722G>T (p.Gly908Ter) c.2578G>T (p.Gly860Ter) c.2719G>T (p.Gly907Ter) | |
| X | g.100342029C>G | CA414000174 | PCDH19 | c.2581G>C (p.Gly861Arg) c.2722G>C (p.Gly908Arg) c.2578G>C (p.Gly860Arg) c.2719G>C (p.Gly907Arg) | |
| X | g.100342029C>T | CA414000176 | PCDH19 | c.2581G>A (p.Gly861Arg) c.2722G>A (p.Gly908Arg) c.2578G>A (p.Gly860Arg) c.2719G>A (p.Gly907Arg) | |
| X | g.100342030A= | CA2447955694 | PCDH19 | c.2580T= (p.Ser860=) c.2721T= (p.Ser907=) c.2577T= (p.Ser859=) c.2718T= (p.Ser906=) | |
| X | g.100342030A>C | CA414000178 | PCDH19 | c.2580T>G (p.Ser860Arg) c.2721T>G (p.Ser907Arg) c.2577T>G (p.Ser859Arg) c.2718T>G (p.Ser906Arg) | |
| X | g.100342030A>G | CA234490 | PCDH19 | c.2580T>C (p.Ser860=) c.2721T>C (p.Ser907=) c.2577T>C (p.Ser859=) c.2718T>C (p.Ser906=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100342030A>T | CA414000179 | PCDH19 | c.2580T>A (p.Ser860Arg) c.2721T>A (p.Ser907Arg) c.2577T>A (p.Ser859Arg) c.2718T>A (p.Ser906Arg) | |
| X | g.100342031C>A | CA414000182 | PCDH19 | c.2579G>T (p.Ser860Ile) c.2720G>T (p.Ser907Ile) c.2576G>T (p.Ser859Ile) c.2717G>T (p.Ser906Ile) | |
| X | g.100342031C>G | CA414000183 | PCDH19 | c.2579G>C (p.Ser860Thr) c.2720G>C (p.Ser907Thr) c.2576G>C (p.Ser859Thr) c.2717G>C (p.Ser906Thr) | |
| X | g.100342031C>T | CA414000184 | PCDH19 | c.2579G>A (p.Ser860Asn) c.2720G>A (p.Ser907Asn) c.2576G>A (p.Ser859Asn) c.2717G>A (p.Ser906Asn) | |
| X | g.100342032T>A | CA414000189 | PCDH19 | c.2578A>T (p.Ser860Cys) c.2719A>T (p.Ser907Cys) c.2575A>T (p.Ser859Cys) c.2716A>T (p.Ser906Cys) | |
| X | g.100342032T>C | CA414000187 | PCDH19 | c.2578A>G (p.Ser860Gly) c.2719A>G (p.Ser907Gly) c.2575A>G (p.Ser859Gly) c.2716A>G (p.Ser906Gly) | gnomAD v4 |
| X | g.100342032T>G | CA414000186 | PCDH19 | c.2578A>C (p.Ser860Arg) c.2719A>C (p.Ser907Arg) c.2575A>C (p.Ser859Arg) c.2716A>C (p.Ser906Arg) | |
| X | g.100342033A>C | CA414000190 | PCDH19 | c.2577T>G (p.Asp859Glu) c.2718T>G (p.Asp906Glu) c.2574T>G (p.Asp858Glu) c.2715T>G (p.Asp905Glu) | |
| X | g.100342033A>G | CA517697075 | PCDH19 | c.2577T>C (p.Asp859=) c.2718T>C (p.Asp906=) c.2574T>C (p.Asp858=) c.2715T>C (p.Asp905=) | gnomAD v4 |
| X | g.100342033A>T | CA414000192 | PCDH19 | c.2577T>A (p.Asp859Glu) c.2718T>A (p.Asp906Glu) c.2574T>A (p.Asp858Glu) c.2715T>A (p.Asp905Glu) | |
| X | g.100342034T>A | CA414000193 | PCDH19 | c.2576A>T (p.Asp859Val) c.2717A>T (p.Asp906Val) c.2573A>T (p.Asp858Val) c.2714A>T (p.Asp905Val) | |
| X | g.100342034T>C | CA414000195 | PCDH19 | c.2576A>G (p.Asp859Gly) c.2717A>G (p.Asp906Gly) c.2573A>G (p.Asp858Gly) c.2714A>G (p.Asp905Gly) | gnomAD v4 |
| X | g.100342034T>G | CA414000197 | PCDH19 | c.2576A>C (p.Asp859Ala) c.2717A>C (p.Asp906Ala) c.2573A>C (p.Asp858Ala) c.2714A>C (p.Asp905Ala) | |
| X | g.100342035C>A | CA414000198 | PCDH19 | c.2575G>T (p.Asp859Tyr) c.2716G>T (p.Asp906Tyr) c.2572G>T (p.Asp858Tyr) c.2713G>T (p.Asp905Tyr) | |
| X | g.100342035C>G | CA414000200 | PCDH19 | c.2575G>C (p.Asp859His) c.2716G>C (p.Asp906His) c.2572G>C (p.Asp858His) c.2713G>C (p.Asp905His) | |
| X | g.100342035C>T | CA414000202 | PCDH19 | c.2575G>A (p.Asp859Asn) c.2716G>A (p.Asp906Asn) c.2572G>A (p.Asp858Asn) c.2713G>A (p.Asp905Asn) | COSMIC COSMIC |
| X | g.100342036C>A | CA414000204 | PCDH19 | c.2574G>T (p.Lys858Asn) c.2715G>T (p.Lys905Asn) c.2571G>T (p.Lys857Asn) c.2712G>T (p.Lys904Asn) | |
| X | g.100342036C>G | CA414000205 | PCDH19 | c.2574G>C (p.Lys858Asn) c.2715G>C (p.Lys905Asn) c.2571G>C (p.Lys857Asn) c.2712G>C (p.Lys904Asn) | |
| X | g.100342036C>T | CA517697098 | PCDH19 | c.2574G>A (p.Lys858=) c.2715G>A (p.Lys905=) c.2571G>A (p.Lys857=) c.2712G>A (p.Lys904=) | |
| X | g.100342037T>A | CA414000207 | PCDH19 | c.2573A>T (p.Lys858Met) c.2714A>T (p.Lys905Met) c.2570A>T (p.Lys857Met) c.2711A>T (p.Lys904Met) | |
| X | g.100342037T>C | CA414000209 | PCDH19 | c.2573A>G (p.Lys858Arg) c.2714A>G (p.Lys905Arg) c.2570A>G (p.Lys857Arg) c.2711A>G (p.Lys904Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100342037T>G | CA414000210 | PCDH19 | c.2573A>C (p.Lys858Thr) c.2714A>C (p.Lys905Thr) c.2570A>C (p.Lys857Thr) c.2711A>C (p.Lys904Thr) | |
| X | g.100342037T= | CA2447955695 | PCDH19 | c.2573A= (p.Lys858=) c.2714A= (p.Lys905=) c.2570A= (p.Lys857=) c.2711A= (p.Lys904=) | |
| X | g.100342038T>A | CA414000213 | PCDH19 | c.2572A>T (p.Lys858Ter) c.2713A>T (p.Lys905Ter) c.2569A>T (p.Lys857Ter) c.2710A>T (p.Lys904Ter) | |
| X | g.100342038T>C | CA414000215 | PCDH19 | c.2572A>G (p.Lys858Glu) c.2713A>G (p.Lys905Glu) c.2569A>G (p.Lys857Glu) c.2710A>G (p.Lys904Glu) | |
| X | g.100342038T>G | CA414000212 | PCDH19 | c.2572A>C (p.Lys858Gln) c.2713A>C (p.Lys905Gln) c.2569A>C (p.Lys857Gln) c.2710A>C (p.Lys904Gln) | |
| X | g.100342039C>A | CA517697113 | PCDH19 | c.2571G>T (p.Leu857=) c.2712G>T (p.Leu904=) c.2568G>T (p.Leu856=) c.2709G>T (p.Leu903=) | |
| X | g.100342039C>G | CA517697114 | PCDH19 | c.2571G>C (p.Leu857=) c.2712G>C (p.Leu904=) c.2568G>C (p.Leu856=) c.2709G>C (p.Leu903=) | |
| X | g.100342039C>T | CA517697115 | PCDH19 | c.2571G>A (p.Leu857=) c.2712G>A (p.Leu904=) c.2568G>A (p.Leu856=) c.2709G>A (p.Leu903=) | |
| X | g.100342040A>C | CA414000219 | PCDH19 | c.2570T>G (p.Leu857Arg) c.2711T>G (p.Leu904Arg) c.2567T>G (p.Leu856Arg) c.2708T>G (p.Leu903Arg) | |
| X | g.100342040A>G | CA414000217 | PCDH19 | c.2570T>C (p.Leu857Pro) c.2711T>C (p.Leu904Pro) c.2567T>C (p.Leu856Pro) c.2708T>C (p.Leu903Pro) | |
| X | g.100342040A>T | CA414000220 | PCDH19 | c.2570T>A (p.Leu857Gln) c.2711T>A (p.Leu904Gln) c.2567T>A (p.Leu856Gln) c.2708T>A (p.Leu903Gln) | |
| X | g.100342041G>A | CA517697118 | PCDH19 | c.2569C>T (p.Leu857=) c.2710C>T (p.Leu904=) c.2566C>T (p.Leu856=) c.2707C>T (p.Leu903=) | |
| X | g.100342041G>C | CA414000222 | PCDH19 | c.2569C>G (p.Leu857Val) c.2710C>G (p.Leu904Val) c.2566C>G (p.Leu856Val) c.2707C>G (p.Leu903Val) | |
| X | g.100342041G>T | CA414000224 | PCDH19 | c.2569C>A (p.Leu857Met) c.2710C>A (p.Leu904Met) c.2566C>A (p.Leu856Met) c.2707C>A (p.Leu903Met) | COSMIC COSMIC |
| X | g.100342042G>A | CA517697124 | PCDH19 | c.2568C>T (p.Ser856=) c.2709C>T (p.Ser903=) c.2565C>T (p.Ser855=) c.2706C>T (p.Ser902=) | dbSNP gnomAD v4 |
| X | g.100342042G>C | CA414000225 | PCDH19 | c.2568C>G (p.Ser856Arg) c.2709C>G (p.Ser903Arg) c.2565C>G (p.Ser855Arg) c.2706C>G (p.Ser902Arg) | |
| X | g.100342042G= | CA2447955696 | PCDH19 | c.2568C= (p.Ser856=) c.2709C= (p.Ser903=) c.2565C= (p.Ser855=) c.2706C= (p.Ser902=) | |
| X | g.100342042G>T | CA414000227 | PCDH19 | c.2568C>A (p.Ser856Arg) c.2709C>A (p.Ser903Arg) c.2565C>A (p.Ser855Arg) c.2706C>A (p.Ser902Arg) | |
| X | g.100342043C>A | CA414000229 | PCDH19 | c.2567G>T (p.Ser856Ile) c.2708G>T (p.Ser903Ile) c.2564G>T (p.Ser855Ile) c.2705G>T (p.Ser902Ile) | |
| X | g.100342043C>G | CA414000230 | PCDH19 | c.2567G>C (p.Ser856Thr) c.2708G>C (p.Ser903Thr) c.2564G>C (p.Ser855Thr) c.2705G>C (p.Ser902Thr) | |
| X | g.100342043C>T | CA414000232 | PCDH19 | c.2567G>A (p.Ser856Asn) c.2708G>A (p.Ser903Asn) c.2564G>A (p.Ser855Asn) c.2705G>A (p.Ser902Asn) | COSMIC COSMIC |
| X | g.100342044T>A | CA414000237 | PCDH19 | c.2566A>T (p.Ser856Cys) c.2707A>T (p.Ser903Cys) c.2563A>T (p.Ser855Cys) c.2704A>T (p.Ser902Cys) | |
| X | g.100342044T>C | CA414000234 | PCDH19 | c.2566A>G (p.Ser856Gly) c.2707A>G (p.Ser903Gly) c.2563A>G (p.Ser855Gly) c.2704A>G (p.Ser902Gly) | gnomAD v4 |
| X | g.100342044T>G | CA414000236 | PCDH19 | c.2566A>C (p.Ser856Arg) c.2707A>C (p.Ser903Arg) c.2563A>C (p.Ser855Arg) c.2704A>C (p.Ser902Arg) | |
| X | g.100342045G>A | CA517697143 | PCDH19 | c.2565C>T (p.Asn855=) c.2706C>T (p.Asn902=) c.2562C>T (p.Asn854=) c.2703C>T (p.Asn901=) | dbSNP |
| X | g.100342045G>C | CA414000239 | PCDH19 | c.2565C>G (p.Asn855Lys) c.2706C>G (p.Asn902Lys) c.2562C>G (p.Asn854Lys) c.2703C>G (p.Asn901Lys) | |
| X | g.100342045G= | CA2447955697 | PCDH19 | c.2565C= (p.Asn855=) c.2706C= (p.Asn902=) c.2562C= (p.Asn854=) c.2703C= (p.Asn901=) | |
| X | g.100342045G>T | CA414000240 | PCDH19 | c.2565C>A (p.Asn855Lys) c.2706C>A (p.Asn902Lys) c.2562C>A (p.Asn854Lys) c.2703C>A (p.Asn901Lys) | |
| X | g.100342046T>A | CA414000242 | PCDH19 | c.2564A>T (p.Asn855Ile) c.2705A>T (p.Asn902Ile) c.2561A>T (p.Asn854Ile) c.2702A>T (p.Asn901Ile) | |
| X | g.100342046T>C | CA414000244 | PCDH19 | c.2564A>G (p.Asn855Ser) c.2705A>G (p.Asn902Ser) c.2561A>G (p.Asn854Ser) c.2702A>G (p.Asn901Ser) | |
| X | g.100342046T>G | CA414000246 | PCDH19 | c.2564A>C (p.Asn855Thr) c.2705A>C (p.Asn902Thr) c.2561A>C (p.Asn854Thr) c.2702A>C (p.Asn901Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100342046T= | CA2447955698 | PCDH19 | c.2564A= (p.Asn855=) c.2705A= (p.Asn902=) c.2561A= (p.Asn854=) c.2702A= (p.Asn901=) | |
| X | g.100342047dup | CA2695236013 | PCDH19 | c.2564dup (p.Asn855LysfsTer6) c.2705dup (p.Asn902LysfsTer6) c.2561dup (p.Asn854LysfsTer6) c.2702dup (p.Asn901LysfsTer6) | |
| X | g.100342047T>A | CA414000247 | PCDH19 | c.2563A>T (p.Asn855Tyr) c.2704A>T (p.Asn902Tyr) c.2560A>T (p.Asn854Tyr) c.2701A>T (p.Asn901Tyr) | |
| X | g.100342047T>C | CA414000249 | PCDH19 | c.2563A>G (p.Asn855Asp) c.2704A>G (p.Asn902Asp) c.2560A>G (p.Asn854Asp) c.2701A>G (p.Asn901Asp) | |
| X | g.100342047T>G | CA414000248 | PCDH19 | c.2563A>C (p.Asn855His) c.2704A>C (p.Asn902His) c.2560A>C (p.Asn854His) c.2701A>C (p.Asn901His) | |
| X | g.100342048G>A | CA333821207 | PCDH19 | c.2562C>T (p.Gly854=) c.2703C>T (p.Gly901=) c.2559C>T (p.Gly853=) c.2700C>T (p.Gly900=) | dbSNP gnomAD v4 |
| X | g.100342048G>C | CA517697156 | PCDH19 | c.2562C>G (p.Gly854=) c.2703C>G (p.Gly901=) c.2559C>G (p.Gly853=) c.2700C>G (p.Gly900=) | |
| X | g.100342048G= | CA2447955699 | PCDH19 | c.2562C= (p.Gly854=) c.2703C= (p.Gly901=) c.2559C= (p.Gly853=) c.2700C= (p.Gly900=) | |
| X | g.100342048G>T | CA10468717 | PCDH19 | c.2562C>A (p.Gly854=) c.2703C>A (p.Gly901=) c.2559C>A (p.Gly853=) c.2700C>A (p.Gly900=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100342049C>A | CA414000252 | PCDH19 | c.2561G>T (p.Gly854Val) c.2702G>T (p.Gly901Val) c.2558G>T (p.Gly853Val) c.2699G>T (p.Gly900Val) | |
| X | g.100342049C>G | CA414000254 | PCDH19 | c.2561G>C (p.Gly854Ala) c.2702G>C (p.Gly901Ala) c.2558G>C (p.Gly853Ala) c.2699G>C (p.Gly900Ala) | |
| X | g.100342049C>T | CA414000255 | PCDH19 | c.2561G>A (p.Gly854Asp) c.2702G>A (p.Gly901Asp) c.2558G>A (p.Gly853Asp) c.2699G>A (p.Gly900Asp) | gnomAD v4 |
| X | g.100342050C>A | CA414000256 | PCDH19 | c.2560G>T (p.Gly854Cys) c.2701G>T (p.Gly901Cys) c.2557G>T (p.Gly853Cys) c.2698G>T (p.Gly900Cys) | |
| X | g.100342050C>G | CA414000257 | PCDH19 | c.2560G>C (p.Gly854Arg) c.2701G>C (p.Gly901Arg) c.2557G>C (p.Gly853Arg) c.2698G>C (p.Gly900Arg) | |
| X | g.100342050C>T | CA414000259 | PCDH19 | c.2560G>A (p.Gly854Ser) c.2701G>A (p.Gly901Ser) c.2557G>A (p.Gly853Ser) c.2698G>A (p.Gly900Ser) | |
| X | g.100342051C>A | CA414000261 | PCDH19 | c.2559G>T (p.Glu853Asp) c.2700G>T (p.Glu900Asp) c.2556G>T (p.Glu852Asp) c.2697G>T (p.Glu899Asp) | |
| X | g.100342051C>G | CA414000262 | PCDH19 | c.2559G>C (p.Glu853Asp) c.2700G>C (p.Glu900Asp) c.2556G>C (p.Glu852Asp) c.2697G>C (p.Glu899Asp) | |
| X | g.100342051C>T | CA517697179 | PCDH19 | c.2559G>A (p.Glu853=) c.2700G>A (p.Glu900=) c.2556G>A (p.Glu852=) c.2697G>A (p.Glu899=) | |
| X | g.100342052T>A | CA414000263 | PCDH19 | c.2558A>T (p.Glu853Val) c.2699A>T (p.Glu900Val) c.2555A>T (p.Glu852Val) c.2696A>T (p.Glu899Val) | |
| X | g.100342052T>C | CA414000264 | PCDH19 | c.2558A>G (p.Glu853Gly) c.2699A>G (p.Glu900Gly) c.2555A>G (p.Glu852Gly) c.2696A>G (p.Glu899Gly) | |
| X | g.100342052T>G | CA414000266 | PCDH19 | c.2558A>C (p.Glu853Ala) c.2699A>C (p.Glu900Ala) c.2555A>C (p.Glu852Ala) c.2696A>C (p.Glu899Ala) | |
| X | g.100342052_100342053insGCTTCAGGTATGCACGGCGGAAACGGTAGTGAGCCACGGCGATACCCACCCAGGTGATGAAGCCAGCCAGACCGGACACGTTCAC | CA2822655083 | PCDH19 | c.2557_2558insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC (p.Glu853GlyfsTer36) c.2698_2699insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC (p.Glu900GlyfsTer36) c.2554_2555insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC (p.Glu852GlyfsTer36) c.2695_2696insGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGTGCATACCTGAAGC (p.Glu899GlyfsTer36) | |
| X | g.100342052_100342053insGCTTCAGGTATGCGCGGCGGAAACGGTAGTGAGCCACGGCGATACCCACCCAGGTGATGAAGCCAGCCAGACCGGACACGTTCACCAGCCACAGGTACG | CA2822655084 | PCDH19 | c.2557_2558insCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu853delinsAlaTyrLeuTrpLeuValAsnValSerGlyLeuAlaGlyPheIleThrTrpValGlyIleAlaValAlaHisTyrArgPheArgArgAlaTyrLeuLysGln) c.2698_2699insCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu900delinsAlaTyrLeuTrpLeuValAsnValSerGlyLeuAlaGlyPheIleThrTrpValGlyIleAlaValAlaHisTyrArgPheArgArgAlaTyrLeuLysGln) c.2554_2555insCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu852delinsAlaTyrLeuTrpLeuValAsnValSerGlyLeuAlaGlyPheIleThrTrpValGlyIleAlaValAlaHisTyrArgPheArgArgAlaTyrLeuLysGln) c.2695_2696insCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCTCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu899delinsAlaTyrLeuTrpLeuValAsnValSerGlyLeuAlaGlyPheIleThrTrpValGlyIleAlaValAlaHisTyrArgPheArgArgAlaTyrLeuLysGln) | |
| X | g.100342052_100342053insGCTTCAGGTATGCGCGGCGGAAACGGTAGTGCGCCACGGCGATACCCACCCAGGTGATGAAGCCAGCCAGACCGGACACGTTCACCAGCCACAGGTACGCACCATCCGGGGAGAGCAGTGCGGCAATGAAG | CA2518144621 | PCDH19 | c.2557_2558insCTTCATTGCCGCACTGCTCTCCCCGGATGGTGCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCGCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu853AlafsTer17) c.2698_2699insCTTCATTGCCGCACTGCTCTCCCCGGATGGTGCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCGCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu900AlafsTer17) c.2554_2555insCTTCATTGCCGCACTGCTCTCCCCGGATGGTGCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCGCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu852AlafsTer17) c.2695_2696insCTTCATTGCCGCACTGCTCTCCCCGGATGGTGCGTACCTGTGGCTGGTGAACGTGTCCGGTCTGGCTGGCTTCATCACCTGGGTGGGTATCGCCGTGGCGCACTACCGTTTCCGCCGCGCATACCTGAAGC (p.Glu899AlafsTer17) | |
| X | g.100342053C>A | CA414000270 | PCDH19 | c.2557G>T (p.Glu853Ter) c.2698G>T (p.Glu900Ter) c.2554G>T (p.Glu852Ter) c.2695G>T (p.Glu899Ter) | |
| X | g.100342053C= | CA2447955700 | PCDH19 | c.2557G= (p.Glu853=) c.2698G= (p.Glu900=) c.2554G= (p.Glu852=) c.2695G= (p.Glu899=) | |
| X | g.100342053C>G | CA333821208 | PCDH19 | c.2557G>C (p.Glu853Gln) c.2698G>C (p.Glu900Gln) c.2554G>C (p.Glu852Gln) c.2695G>C (p.Glu899Gln) | dbSNP gnomAD v4 |
| X | g.100342053C>T | CA414000268 | PCDH19 | c.2557G>A (p.Glu853Lys) c.2698G>A (p.Glu900Lys) c.2554G>A (p.Glu852Lys) c.2695G>A (p.Glu899Lys) | |
| X | g.100342054T>A | CA414000272 | PCDH19 | c.2556A>T (p.Leu852Phe) c.2697A>T (p.Leu899Phe) c.2553A>T (p.Leu851Phe) c.2694A>T (p.Leu898Phe) | |
| X | g.100342054T>C | CA517697190 | PCDH19 | c.2556A>G (p.Leu852=) c.2697A>G (p.Leu899=) c.2553A>G (p.Leu851=) c.2694A>G (p.Leu898=) | |
| X | g.100342054T>G | CA414000273 | PCDH19 | c.2556A>C (p.Leu852Phe) c.2697A>C (p.Leu899Phe) c.2553A>C (p.Leu851Phe) c.2694A>C (p.Leu898Phe) | |
| X | g.100342054dup | CA915951290 | PCDH19 | c.2556dup (p.Glu853ArgfsTer8) c.2697dup (p.Glu900ArgfsTer8) c.2553dup (p.Glu852ArgfsTer8) c.2694dup (p.Glu899ArgfsTer8) | ClinVar dbSNP |
| X | g.100342055A>C | CA414000275 | PCDH19 | c.2555T>G (p.Leu852Ter) c.2696T>G (p.Leu899Ter) c.2552T>G (p.Leu851Ter) c.2693T>G (p.Leu898Ter) | |
| X | g.100342055A>G | CA414000277 | PCDH19 | c.2555T>C (p.Leu852Ser) c.2696T>C (p.Leu899Ser) c.2552T>C (p.Leu851Ser) c.2693T>C (p.Leu898Ser) | |
| X | g.100342055A>T | CA414000278 | PCDH19 | c.2555T>A (p.Leu852Ter) c.2696T>A (p.Leu899Ter) c.2552T>A (p.Leu851Ter) c.2693T>A (p.Leu898Ter) | |
| X | g.100342056A>C | CA414000280 | PCDH19 | c.2554T>G (p.Leu852Val) c.2695T>G (p.Leu899Val) c.2551T>G (p.Leu851Val) c.2692T>G (p.Leu898Val) | |
| X | g.100342056A>G | CA517697197 | PCDH19 | c.2554T>C (p.Leu852=) c.2695T>C (p.Leu899=) c.2551T>C (p.Leu851=) c.2692T>C (p.Leu898=) | |
| X | g.100342056A>T | CA414000282 | PCDH19 | c.2554T>A (p.Leu852Ile) c.2695T>A (p.Leu899Ile) c.2551T>A (p.Leu851Ile) c.2692T>A (p.Leu898Ile) | |
| X | g.100342057G>A | CA206701 | PCDH19 | c.2553C>T (p.Asp851=) c.2694C>T (p.Asp898=) c.2550C>T (p.Asp850=) c.2691C>T (p.Asp897=) | ClinVar dbSNP ExAC gnomAD v4 |
| X | g.100342057G>C | CA414000284 | PCDH19 | c.2553C>G (p.Asp851Glu) c.2694C>G (p.Asp898Glu) c.2550C>G (p.Asp850Glu) c.2691C>G (p.Asp897Glu) | |
| X | g.100342057G= | CA2447955701 | PCDH19 | c.2553C= (p.Asp851=) c.2694C= (p.Asp898=) c.2550C= (p.Asp850=) c.2691C= (p.Asp897=) | |
| X | g.100342057G>T | CA414000286 | PCDH19 | c.2553C>A (p.Asp851Glu) c.2694C>A (p.Asp898Glu) c.2550C>A (p.Asp850Glu) c.2691C>A (p.Asp897Glu) | |
| X | g.100342058T>A | CA414000288 | PCDH19 | c.2552A>T (p.Asp851Val) c.2693A>T (p.Asp898Val) c.2549A>T (p.Asp850Val) c.2690A>T (p.Asp897Val) | |
| X | g.100342058T>C | CA414000289 | PCDH19 | c.2552A>G (p.Asp851Gly) c.2693A>G (p.Asp898Gly) c.2549A>G (p.Asp850Gly) c.2690A>G (p.Asp897Gly) | |
| X | g.100342058T>G | CA414000291 | PCDH19 | c.2552A>C (p.Asp851Ala) c.2693A>C (p.Asp898Ala) c.2549A>C (p.Asp850Ala) c.2690A>C (p.Asp897Ala) | |
| X | g.100342059C>A | CA414000296 | PCDH19 | c.2551G>T (p.Asp851Tyr) c.2692G>T (p.Asp898Tyr) c.2548G>T (p.Asp850Tyr) c.2689G>T (p.Asp897Tyr) | |
| X | g.100342059C>G | CA414000294 | PCDH19 | c.2551G>C (p.Asp851His) c.2692G>C (p.Asp898His) c.2548G>C (p.Asp850His) c.2689G>C (p.Asp897His) | |
| X | g.100342059C>T | CA414000293 | PCDH19 | c.2551G>A (p.Asp851Asn) c.2692G>A (p.Asp898Asn) c.2548G>A (p.Asp850Asn) c.2689G>A (p.Asp897Asn) | |
| X | g.100342060C>A | CA414000298 | PCDH19 | c.2550G>T (p.Lys850Asn) c.2691G>T (p.Lys897Asn) c.2547G>T (p.Lys849Asn) c.2688G>T (p.Lys896Asn) | |
| X | g.100342060C>G | CA414000299 | PCDH19 | c.2550G>C (p.Lys850Asn) c.2691G>C (p.Lys897Asn) c.2547G>C (p.Lys849Asn) c.2688G>C (p.Lys896Asn) | |
| X | g.100342060C>T | CA517697212 | PCDH19 | c.2550G>A (p.Lys850=) c.2691G>A (p.Lys897=) c.2547G>A (p.Lys849=) c.2688G>A (p.Lys896=) | |
| X | g.100342061T>A | CA414000301 | PCDH19 | c.2549A>T (p.Lys850Met) c.2690A>T (p.Lys897Met) c.2546A>T (p.Lys849Met) c.2687A>T (p.Lys896Met) | |
| X | g.100342061T>C | CA414000302 | PCDH19 | c.2549A>G (p.Lys850Arg) c.2690A>G (p.Lys897Arg) c.2546A>G (p.Lys849Arg) c.2687A>G (p.Lys896Arg) | |
| X | g.100342061T>G | CA414000304 | PCDH19 | c.2549A>C (p.Lys850Thr) c.2690A>C (p.Lys897Thr) c.2546A>C (p.Lys849Thr) c.2687A>C (p.Lys896Thr) | |
| X | g.100342062T>A | CA414000306 | PCDH19 | c.2548A>T (p.Lys850Ter) c.2689A>T (p.Lys897Ter) c.2545A>T (p.Lys849Ter) c.2686A>T (p.Lys896Ter) | |
| X | g.100342062T>C | CA414000308 | PCDH19 | c.2548A>G (p.Lys850Glu) c.2689A>G (p.Lys897Glu) c.2545A>G (p.Lys849Glu) c.2686A>G (p.Lys896Glu) | |
| X | g.100342062T>G | CA414000309 | PCDH19 | c.2548A>C (p.Lys850Gln) c.2689A>C (p.Lys897Gln) c.2545A>C (p.Lys849Gln) c.2686A>C (p.Lys896Gln) | |
| X | g.100342063G>A | CA517697216 | PCDH19 | c.2547C>T (p.Phe849=) c.2688C>T (p.Phe896=) c.2544C>T (p.Phe848=) c.2685C>T (p.Phe895=) | |
| X | g.100342063G>C | CA414000311 | PCDH19 | c.2547C>G (p.Phe849Leu) c.2688C>G (p.Phe896Leu) c.2544C>G (p.Phe848Leu) c.2685C>G (p.Phe895Leu) | COSMIC COSMIC |
| X | g.100342063G>T | CA414000313 | PCDH19 | c.2547C>A (p.Phe849Leu) c.2688C>A (p.Phe896Leu) c.2544C>A (p.Phe848Leu) c.2685C>A (p.Phe895Leu) | |
| X | g.100342064A= | CA2447955702 | PCDH19 | c.2546T= (p.Phe849=) c.2687T= (p.Phe896=) c.2543T= (p.Phe848=) c.2684T= (p.Phe895=) | |
| X | g.100342064A>C | CA414000314 | PCDH19 | c.2546T>G (p.Phe849Cys) c.2687T>G (p.Phe896Cys) c.2543T>G (p.Phe848Cys) c.2684T>G (p.Phe895Cys) | |
| X | g.100342064A>G | CA316384 | PCDH19 | c.2546T>C (p.Phe849Ser) c.2687T>C (p.Phe896Ser) c.2543T>C (p.Phe848Ser) c.2684T>C (p.Phe895Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100342064A>T | CA414000316 | PCDH19 | c.2546T>A (p.Phe849Tyr) c.2687T>A (p.Phe896Tyr) c.2543T>A (p.Phe848Tyr) c.2684T>A (p.Phe895Tyr) | |
| X | g.100342065del | CA2694250721 | PCDH19 | c.2546del (p.Phe849SerfsTer4) c.2687del (p.Phe896SerfsTer4) c.2543del (p.Phe848SerfsTer4) c.2684del (p.Phe895SerfsTer4) | gnomAD v4 |
| X | g.100342065A>C | CA414000320 | PCDH19 | c.2545T>G (p.Phe849Val) c.2686T>G (p.Phe896Val) c.2542T>G (p.Phe848Val) c.2683T>G (p.Phe895Val) | |
| X | g.100342065A>G | CA414000321 | PCDH19 | c.2545T>C (p.Phe849Leu) c.2686T>C (p.Phe896Leu) c.2542T>C (p.Phe848Leu) c.2683T>C (p.Phe895Leu) | COSMIC COSMIC |
| X | g.100342065A>T | CA414000319 | PCDH19 | c.2545T>A (p.Phe849Ile) c.2686T>A (p.Phe896Ile) c.2542T>A (p.Phe848Ile) c.2683T>A (p.Phe895Ile) | |
| X | g.100342066G>A | CA517697227 | PCDH19 | c.2544C>T (p.Thr848=) c.2685C>T (p.Thr895=) c.2541C>T (p.Thr847=) c.2682C>T (p.Thr894=) | gnomAD v4 |
| X | g.100342066G>C | CA517697230 | PCDH19 | c.2544C>G (p.Thr848=) c.2685C>G (p.Thr895=) c.2541C>G (p.Thr847=) c.2682C>G (p.Thr894=) | |
| X | g.100342066G>T | CA517697232 | PCDH19 | c.2544C>A (p.Thr848=) c.2685C>A (p.Thr895=) c.2541C>A (p.Thr847=) c.2682C>A (p.Thr894=) | |
| X | g.100342067G>A | CA414000323 | PCDH19 | c.2543C>T (p.Thr848Ile) c.2684C>T (p.Thr895Ile) c.2540C>T (p.Thr847Ile) c.2681C>T (p.Thr894Ile) | ClinVar dbSNP |
| X | g.100342067G>C | CA414000327 | PCDH19 | c.2543C>G (p.Thr848Ser) c.2684C>G (p.Thr895Ser) c.2540C>G (p.Thr847Ser) c.2681C>G (p.Thr894Ser) | |
| X | g.100342067G>T | CA414000325 | PCDH19 | c.2543C>A (p.Thr848Asn) c.2684C>A (p.Thr895Asn) c.2540C>A (p.Thr847Asn) c.2681C>A (p.Thr894Asn) | |
| X | g.100342067_100342076delinsGTGGAGCTGC | CA2447955703 | PCDH19 | c.2535-1_2543delinsGCAGCTCCAC c.2676-1_2684delinsGCAGCTCCAC c.2535-4_2540delinsGCAGCTCCAC c.2676-4_2681delinsGCAGCTCCAC | |
| X | g.100342068T>A | CA414000328 | PCDH19 | c.2542A>T (p.Thr848Ser) c.2683A>T (p.Thr895Ser) c.2539A>T (p.Thr847Ser) c.2680A>T (p.Thr894Ser) | |
| X | g.100342068T>C | CA414000330 | PCDH19 | c.2542A>G (p.Thr848Ala) c.2683A>G (p.Thr895Ala) c.2539A>G (p.Thr847Ala) c.2680A>G (p.Thr894Ala) | |
| X | g.100342068T>G | CA414000332 | PCDH19 | c.2542A>C (p.Thr848Pro) c.2683A>C (p.Thr895Pro) c.2539A>C (p.Thr847Pro) c.2680A>C (p.Thr894Pro) | gnomAD v4 |
| X | g.100342071_100342079del | CA16621145 | PCDH19 | c.2535-1_2542del c.2676-1_2683del c.2535-4_2539del c.2676-4_2680del | ClinVar dbSNP |
| X | g.100342069G>A | CA517697241 | PCDH19 | c.2541C>T (p.Ser847=) c.2682C>T (p.Ser894=) c.2538C>T (p.Ser846=) c.2679C>T (p.Ser893=) | |
| X | g.100342069G>C | CA517697243 | PCDH19 | c.2541C>G (p.Ser847=) c.2682C>G (p.Ser894=) c.2538C>G (p.Ser846=) c.2679C>G (p.Ser893=) | |
| X | g.100342069G>T | CA517697244 | PCDH19 | c.2541C>A (p.Ser847=) c.2682C>A (p.Ser894=) c.2538C>A (p.Ser846=) c.2679C>A (p.Ser893=) | |
| X | g.100342070G>A | CA414000334 | PCDH19 | c.2540C>T (p.Ser847Phe) c.2681C>T (p.Ser894Phe) c.2537C>T (p.Ser846Phe) c.2678C>T (p.Ser893Phe) | |
| X | g.100342070G>C | CA414000335 | PCDH19 | c.2540C>G (p.Ser847Cys) c.2681C>G (p.Ser894Cys) c.2537C>G (p.Ser846Cys) c.2678C>G (p.Ser893Cys) | |
| X | g.100342070G= | CA2447955704 | PCDH19 | c.2540C= (p.Ser847=) c.2681C= (p.Ser894=) c.2537C= (p.Ser846=) c.2678C= (p.Ser893=) | |
| X | g.100342070G>T | CA10468718 | PCDH19 | c.2540C>A (p.Ser847Tyr) c.2681C>A (p.Ser894Tyr) c.2537C>A (p.Ser846Tyr) c.2678C>A (p.Ser893Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100342071A>C | CA414000338 | PCDH19 | c.2539T>G (p.Ser847Ala) c.2680T>G (p.Ser894Ala) c.2536T>G (p.Ser846Ala) c.2677T>G (p.Ser893Ala) | |
| X | g.100342071A>G | CA414000339 | PCDH19 | c.2539T>C (p.Ser847Pro) c.2680T>C (p.Ser894Pro) c.2536T>C (p.Ser846Pro) c.2677T>C (p.Ser893Pro) | |
| X | g.100342071A>T | CA414000341 | PCDH19 | c.2539T>A (p.Ser847Thr) c.2680T>A (p.Ser894Thr) c.2536T>A (p.Ser846Thr) c.2677T>A (p.Ser893Thr) | |
| X | g.100342072G>A | CA517697252 | PCDH19 | c.2538C>T (p.Ser846=) c.2679C>T (p.Ser893=) c.2535C>T (p.Ser845=) c.2676C>T (p.Ser892=) | |
| X | g.100342072G>C | CA414000342 | PCDH19 | c.2538C>G (p.Ser846Arg) c.2679C>G (p.Ser893Arg) c.2535C>G (p.Ser845Arg) c.2676C>G (p.Ser892Arg) | |
| X | g.100342072G>T | CA414000344 | PCDH19 | c.2538C>A (p.Ser846Arg) c.2679C>A (p.Ser893Arg) c.2535C>A (p.Ser845Arg) c.2676C>A (p.Ser892Arg) | |
| X | g.100342073C>A | CA414000348 | PCDH19 | c.2537G>T (p.Ser846Ile) c.2678G>T (p.Ser893Ile) c.2535-1G>T (n.2535-1G>T) c.2676-1G>T (n.2676-1G>T) | COSMIC COSMIC |
| X | g.100342073C>G | CA414000347 | PCDH19 | c.2537G>C (p.Ser846Thr) c.2678G>C (p.Ser893Thr) c.2535-1G>C (n.2535-1G>C) c.2676-1G>C (n.2676-1G>C) | COSMIC COSMIC |
| X | g.100342073C>T | CA414000345 | PCDH19 | c.2537G>A (p.Ser846Asn) c.2678G>A (p.Ser893Asn) c.2535-1G>A (n.2535-1G>A) c.2676-1G>A (n.2676-1G>A) | |
| X | g.100342074T>A | CA414000350 | PCDH19 | c.2536A>T (p.Ser846Cys) c.2677A>T (p.Ser893Cys) c.2535-2A>T (n.2535-2A>T) c.2676-2A>T (n.2676-2A>T) | |
| X | g.100342074T>C | CA414000351 | PCDH19 | c.2536A>G (p.Ser846Gly) c.2677A>G (p.Ser893Gly) c.2535-2A>G (n.2535-2A>G) c.2676-2A>G (n.2676-2A>G) | |
| X | g.100342074T>G | CA414000352 | PCDH19 | c.2536A>C (p.Ser846Arg) c.2677A>C (p.Ser893Arg) c.2535-2A>C (n.2535-2A>C) c.2676-2A>C (n.2676-2A>C) | |
| X | g.100342075G>A | CA517697265 | PCDH19 | c.2535C>T (p.Ser845=) c.2676C>T (p.Ser892=) c.2535-3C>T (n.2535-3C>T) c.2676-3C>T (n.2676-3C>T) | dbSNP |
| X | g.100342075G>C | CA414000353 | PCDH19 | c.2535C>G (p.Ser845Arg) c.2676C>G (p.Ser892Arg) c.2535-3C>G (n.2535-3C>G) c.2676-3C>G (n.2676-3C>G) | |
| X | g.100342075G= | CA2447955705 | PCDH19 | c.2535C= (p.Ser845=) c.2676C= (p.Ser892=) c.2535-3C= (n.2535-3C=) c.2676-3C= (n.2676-3C=) | |
| X | g.100342075G>T | CA414000354 | PCDH19 | c.2535C>A (p.Ser845Arg) c.2676C>A (p.Ser892Arg) c.2535-3C>A (n.2535-3C>A) c.2676-3C>A (n.2676-3C>A) | |
| X | g.100342076C>A | CA414000356 | PCDH19 | c.2535-1G>T (n.2535-1G>T) c.2676-1G>T (n.2676-1G>T) c.2535-4G>T (n.2535-4G>T) c.2676-4G>T (n.2676-4G>T) | |
| X | g.100342076C>G | CA414000358 | PCDH19 | c.2535-1G>C (n.2535-1G>C) c.2676-1G>C (n.2676-1G>C) c.2535-4G>C (n.2535-4G>C) c.2676-4G>C (n.2676-4G>C) | |
| X | g.100342076C>T | CA414000359 | PCDH19 | c.2535-1G>A (n.2535-1G>A) c.2676-1G>A (n.2676-1G>A) c.2535-4G>A (n.2535-4G>A) c.2676-4G>A (n.2676-4G>A) | |
| X | g.100342077T>A | CA414000361 | PCDH19 | c.2535-2A>T (n.2535-2A>T) c.2676-2A>T (n.2676-2A>T) c.2535-5A>T (n.2535-5A>T) c.2676-5A>T (n.2676-5A>T) | |
| X | g.100342077T>C | CA414000363 | PCDH19 | c.2535-2A>G (n.2535-2A>G) c.2676-2A>G (n.2676-2A>G) c.2535-5A>G (n.2535-5A>G) c.2676-5A>G (n.2676-5A>G) | |
| X | g.100342077T>G | CA414000364 | PCDH19 | c.2535-2A>C (n.2535-2A>C) c.2676-2A>C (n.2676-2A>C) c.2535-5A>C (n.2535-5A>C) c.2676-5A>C (n.2676-5A>C) | |
| X | g.100342079G>A | CA643538082 | PCDH19 | c.2535-4C>T (n.2535-4C>T) c.2676-4C>T (n.2676-4C>T) c.2535-7C>T (n.2535-7C>T) c.2676-7C>T (n.2676-7C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100342079G= | CA2447955706 | PCDH19 | c.2535-4C= (n.2535-4C=) c.2676-4C= (n.2676-4C=) c.2535-7C= (n.2535-7C=) c.2676-7C= (n.2676-7C=) | |
| X | g.100342079G>T | CA2579659194 | PCDH19 | c.2535-4C>A (n.2535-4C>A) c.2676-4C>A (n.2676-4C>A) c.2535-7C>A (n.2535-7C>A) c.2676-7C>A (n.2676-7C>A) | |
| X | g.100342081T>C | CA915951291 | PCDH19 | c.2535-6A>G (n.2535-6A>G) c.2676-6A>G (n.2676-6A>G) c.2535-9A>G (n.2535-9A>G) c.2676-9A>G (n.2676-9A>G) | ClinVar dbSNP |
| X | g.100342081T= | CA2447955707 | PCDH19 | c.2535-6A= (n.2535-6A=) c.2676-6A= (n.2676-6A=) c.2535-9A= (n.2535-9A=) c.2676-9A= (n.2676-9A=) | |
| X | g.100342083G>A | CA869217058 | PCDH19 | c.2535-8C>T (n.2535-8C>T) c.2676-8C>T (n.2676-8C>T) c.2535-11C>T (n.2535-11C>T) c.2676-11C>T (n.2676-11C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100342083G= | CA2447955708 | PCDH19 | c.2535-8C= (n.2535-8C=) c.2676-8C= (n.2676-8C=) c.2535-11C= (n.2535-11C=) c.2676-11C= (n.2676-11C=) | |
| X | g.100342083G>T | CA916083974 | PCDH19 | c.2535-8C>A (n.2535-8C>A) c.2676-8C>A (n.2676-8C>A) c.2535-11C>A (n.2535-11C>A) c.2676-11C>A (n.2676-11C>A) | ClinVar dbSNP |
| X | g.100342085A= | CA2447955709 | PCDH19 | c.2535-10T= (n.2535-10T=) c.2676-10T= (n.2676-10T=) c.2535-13T= (n.2535-13T=) c.2676-13T= (n.2676-13T=) | |
| X | g.100342085A>C | CA869217065 | PCDH19 | c.2535-10T>G (n.2535-10T>G) c.2676-10T>G (n.2676-10T>G) c.2535-13T>G (n.2535-13T>G) c.2676-13T>G (n.2676-13T>G) | ClinVar dbSNP gnomAD v4 |
| X | g.100342085A>G | CA2822655085 | PCDH19 | c.2535-10T>C (n.2535-10T>C) c.2676-10T>C (n.2676-10T>C) c.2535-13T>C (n.2535-13T>C) c.2676-13T>C (n.2676-13T>C) | |
| X | g.100342086G>A | CA2694250722 | PCDH19 | c.2535-11C>T (n.2535-11C>T) c.2676-11C>T (n.2676-11C>T) c.2535-14C>T (n.2535-14C>T) c.2676-14C>T (n.2676-14C>T) | ClinVar gnomAD v4 |
| X | g.100342086G>T | CA2579659195 | PCDH19 | c.2535-11C>A (n.2535-11C>A) c.2676-11C>A (n.2676-11C>A) c.2535-14C>A (n.2535-14C>A) c.2676-14C>A (n.2676-14C>A) | gnomAD v4 |
| X | g.100342087A= | CA2447955710 | PCDH19 | c.2535-12T= (n.2535-12T=) c.2676-12T= (n.2676-12T=) c.2535-15T= (n.2535-15T=) c.2676-15T= (n.2676-15T=) | |
| X | g.100342087A>G | CA2447955711 | PCDH19 | c.2535-12T>C (n.2535-12T>C) c.2676-12T>C (n.2676-12T>C) c.2535-15T>C (n.2535-15T>C) c.2676-15T>C (n.2676-15T>C) | dbSNP |
| X | g.100342088C>A | CA2694250723 | PCDH19 | c.2535-13G>T (n.2535-13G>T) c.2676-13G>T (n.2676-13G>T) c.2535-16G>T (n.2535-16G>T) c.2676-16G>T (n.2676-16G>T) | gnomAD v4 |
| X | g.100342088C>G | CA2822655086 | PCDH19 | c.2535-13G>C (n.2535-13G>C) c.2676-13G>C (n.2676-13G>C) c.2535-16G>C (n.2535-16G>C) c.2676-16G>C (n.2676-16G>C) | |
| X | g.100342089A= | CA2447955712 | PCDH19 | c.2535-14T= (n.2535-14T=) c.2676-14T= (n.2676-14T=) c.2535-17T= (n.2535-17T=) c.2676-17T= (n.2676-17T=) | |
| X | g.100342089A>G | CA1135800780 | PCDH19 | c.2535-14T>C (n.2535-14T>C) c.2676-14T>C (n.2676-14T>C) c.2535-17T>C (n.2535-17T>C) c.2676-17T>C (n.2676-17T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100342090G>A | CA10468719 | PCDH19 | c.2535-15C>T (n.2535-15C>T) c.2676-15C>T (n.2676-15C>T) c.2535-18C>T (n.2535-18C>T) c.2676-18C>T (n.2676-18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100342090G= | CA2447955713 | PCDH19 | c.2535-15C= (n.2535-15C=) c.2676-15C= (n.2676-15C=) c.2535-18C= (n.2535-18C=) c.2676-18C= (n.2676-18C=) | |
| X | g.100342090G>T | CA2536867799 | PCDH19 | c.2535-15C>A (n.2535-15C>A) c.2676-15C>A (n.2676-15C>A) c.2535-18C>A (n.2535-18C>A) c.2676-18C>A (n.2676-18C>A) | |
| X | g.100342092A= | CA2447955714 | PCDH19 | c.2535-17T= (n.2535-17T=) c.2676-17T= (n.2676-17T=) c.2535-20T= (n.2535-20T=) c.2676-20T= (n.2676-20T=) | |
| X | g.100342092A>G | CA333821209 | PCDH19 | c.2535-17T>C (n.2535-17T>C) c.2676-17T>C (n.2676-17T>C) c.2535-20T>C (n.2535-20T>C) c.2676-20T>C (n.2676-20T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100342094G= | CA2447955715 | PCDH19 | c.2535-19C= (n.2535-19C=) c.2676-19C= (n.2676-19C=) c.2535-22C= (n.2535-22C=) c.2676-22C= (n.2676-22C=) | |
| X | g.100342096_100342097dup | CA643538083 | PCDH19 | c.2535-21_2535-20dup (n.2535-21_2535-20dup) c.2676-21_2676-20dup (n.2676-21_2676-20dup) c.2535-24_2535-23dup (n.2535-24_2535-23dup) c.2676-24_2676-23dup (n.2676-24_2676-23dup) | dbSNP gnomAD v2 |
| X | g.100342096del | CA2579659196 | PCDH19 | c.2535-21del (n.2535-21del) c.2676-21del (n.2676-21del) c.2535-24del (n.2535-24del) c.2676-24del (n.2676-24del) | |
| X | g.100342096T>A | CA2447955717 | PCDH19 | c.2535-21A>T (n.2535-21A>T) c.2676-21A>T (n.2676-21A>T) c.2535-24A>T (n.2535-24A>T) c.2676-24A>T (n.2676-24A>T) | dbSNP gnomAD v4 |
| X | g.100342096T>C | CA2694250724 | PCDH19 | c.2535-21A>G (n.2535-21A>G) c.2676-21A>G (n.2676-21A>G) c.2535-24A>G (n.2535-24A>G) c.2676-24A>G (n.2676-24A>G) | gnomAD v4 |
| X | g.100342096T= | CA2447955716 | PCDH19 | c.2535-21A= (n.2535-21A=) c.2676-21A= (n.2676-21A=) c.2535-24A= (n.2535-24A=) c.2676-24A= (n.2676-24A=) | |
| X | g.100342098_100342099delinsAT | CA2447955718 | PCDH19 | c.2535-24_2535-23delinsAT (n.2535-24_2535-23delinsAT) c.2676-24_2676-23delinsAT (n.2676-24_2676-23delinsAT) c.2535-27_2535-26delinsAT (n.2535-27_2535-26delinsAT) c.2676-27_2676-26delinsAT (n.2676-27_2676-26delinsAT) | |
| X | g.100342101del | CA10468720 | PCDH19 | c.2535-24del (n.2535-24del) c.2676-24del (n.2676-24del) c.2535-27del (n.2535-27del) c.2676-27del (n.2676-27del) | dbSNP ExAC gnomAD v2 |
| X | g.100342100T>G | CA869217088 | PCDH19 | c.2535-25A>C (n.2535-25A>C) c.2676-25A>C (n.2676-25A>C) c.2535-28A>C (n.2535-28A>C) c.2676-28A>C (n.2676-28A>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100342100T= | CA2447955719 | PCDH19 | c.2535-25A= (n.2535-25A=) c.2676-25A= (n.2676-25A=) c.2535-28A= (n.2535-28A=) c.2676-28A= (n.2676-28A=) | |
| X | g.100342101T>A | CA2694250725 | PCDH19 | c.2535-26A>T (n.2535-26A>T) c.2676-26A>T (n.2676-26A>T) c.2535-29A>T (n.2535-29A>T) c.2676-29A>T (n.2676-29A>T) | gnomAD v4 |
| X | g.100342101T>C | CA2694250726 | PCDH19 | c.2535-26A>G (n.2535-26A>G) c.2676-26A>G (n.2676-26A>G) c.2535-29A>G (n.2535-29A>G) c.2676-29A>G (n.2676-29A>G) | gnomAD v4 |
| X | g.100342102A= | CA2447955720 | PCDH19 | c.2535-27T= (n.2535-27T=) c.2676-27T= (n.2676-27T=) c.2535-30T= (n.2535-30T=) c.2676-30T= (n.2676-30T=) | |
| X | g.100342102A>G | CA869217094 | PCDH19 | c.2535-27T>C (n.2535-27T>C) c.2676-27T>C (n.2676-27T>C) c.2535-30T>C (n.2535-30T>C) c.2676-30T>C (n.2676-30T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100342103C= | CA2447955721 | PCDH19 | c.2535-28G= (n.2535-28G=) c.2676-28G= (n.2676-28G=) c.2535-31G= (n.2535-31G=) c.2676-31G= (n.2676-31G=) | |
| X | g.100342103C>T | CA10468721 | PCDH19 | c.2535-28G>A (n.2535-28G>A) c.2676-28G>A (n.2676-28G>A) c.2535-31G>A (n.2535-31G>A) c.2676-31G>A (n.2676-31G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100342104G>A | CA10468722 | PCDH19 | c.2535-29C>T (n.2535-29C>T) c.2676-29C>T (n.2676-29C>T) c.2535-32C>T (n.2535-32C>T) c.2676-32C>T (n.2676-32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100342104G= | CA2447955722 | PCDH19 | c.2535-29C= (n.2535-29C=) c.2676-29C= (n.2676-29C=) c.2535-32C= (n.2535-32C=) c.2676-32C= (n.2676-32C=) | |
| X | g.100342104G>T | CA10468723 | PCDH19 | c.2535-29C>A (n.2535-29C>A) c.2676-29C>A (n.2676-29C>A) c.2535-32C>A (n.2535-32C>A) c.2676-32C>A (n.2676-32C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |