Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.5893009C>A | CA412012632 | NLGN4X | c.2259G>T (p.Arg753Ser) c.2319G>T (p.Arg773Ser) n.277+10068G>T c.2262G>T (p.Arg754Ser) | ClinVar dbSNP |
X | g.5893009C= | CA2413689095 | NLGN4X | c.2259G= (p.Arg753=) c.2319G= (p.Arg773=) n.277+10068G= c.2262G= (p.Arg754=) | |
X | g.5893009C>G | CA10604882 | NLGN4X | c.2259G>C (p.Arg753Ser) c.2319G>C (p.Arg773Ser) n.277+10068G>C c.2262G>C (p.Arg754Ser) | ClinVar dbSNP gnomAD v4 |
X | g.5893009C>T | CA515368000 | NLGN4X | c.2259G>A (p.Arg753=) c.2319G>A (p.Arg773=) n.277+10068G>A c.2262G>A (p.Arg754=) | dbSNP gnomAD v4 |
X | g.5893010C>A | CA412012635 | NLGN4X | c.2258G>T (p.Arg753Met) c.2318G>T (p.Arg773Met) n.277+10067G>T c.2261G>T (p.Arg754Met) | |
X | g.5893010C>G | CA412012634 | NLGN4X | c.2258G>C (p.Arg753Thr) c.2318G>C (p.Arg773Thr) n.277+10067G>C c.2261G>C (p.Arg754Thr) | |
X | g.5893010C>T | CA412012633 | NLGN4X | c.2258G>A (p.Arg753Lys) c.2318G>A (p.Arg773Lys) n.277+10067G>A c.2261G>A (p.Arg754Lys) | gnomAD v4 |
X | g.5893011T>A | CA412012636 | NLGN4X | c.2257A>T (p.Arg753Trp) c.2317A>T (p.Arg773Trp) n.277+10066A>T c.2260A>T (p.Arg754Trp) | |
X | g.5893011T>C | CA412012637 | NLGN4X | c.2257A>G (p.Arg753Gly) c.2317A>G (p.Arg773Gly) n.277+10066A>G c.2260A>G (p.Arg754Gly) | |
X | g.5893011T>G | CA515368001 | NLGN4X | c.2257A>C (p.Arg753=) c.2317A>C (p.Arg773=) n.277+10066A>C c.2260A>C (p.Arg754=) | |
X | g.5893012C>A | CA515368002 | NLGN4X | c.2256G>T (p.Leu752=) c.2316G>T (p.Leu772=) n.277+10065G>T c.2259G>T (p.Leu753=) | |
X | g.5893012C= | CA2413689096 | NLGN4X | c.2256G= (p.Leu752=) c.2316G= (p.Leu772=) n.277+10065G= c.2259G= (p.Leu753=) | |
X | g.5893012C>G | CA515368003 | NLGN4X | c.2256G>C (p.Leu752=) c.2316G>C (p.Leu772=) n.277+10065G>C c.2259G>C (p.Leu753=) | |
X | g.5893012C>T | CA515368004 | NLGN4X | c.2256G>A (p.Leu752=) c.2316G>A (p.Leu772=) n.277+10065G>A c.2259G>A (p.Leu753=) | dbSNP gnomAD v4 |
X | g.5893013A>C | CA412012638 | NLGN4X | c.2255T>G (p.Leu752Arg) c.2315T>G (p.Leu772Arg) n.277+10064T>G c.2258T>G (p.Leu753Arg) | |
X | g.5893013A>G | CA412012639 | NLGN4X | c.2255T>C (p.Leu752Pro) c.2315T>C (p.Leu772Pro) n.277+10064T>C c.2258T>C (p.Leu753Pro) | |
X | g.5893013A>T | CA412012640 | NLGN4X | c.2255T>A (p.Leu752Gln) c.2315T>A (p.Leu772Gln) n.277+10064T>A c.2258T>A (p.Leu753Gln) | |
X | g.5893014G>A | CA326308992 | NLGN4X | c.2254C>T (p.Leu752=) c.2314C>T (p.Leu772=) n.277+10063C>T c.2257C>T (p.Leu753=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.5893014G>C | CA412012641 | NLGN4X | c.2254C>G (p.Leu752Val) c.2314C>G (p.Leu772Val) n.277+10063C>G c.2257C>G (p.Leu753Val) | |
X | g.5893014G= | CA2413689097 | NLGN4X | c.2254C= (p.Leu752=) c.2314C= (p.Leu772=) n.277+10063C= c.2257C= (p.Leu753=) | |
X | g.5893014G>T | CA412012642 | NLGN4X | c.2254C>A (p.Leu752Met) c.2314C>A (p.Leu772Met) n.277+10063C>A c.2257C>A (p.Leu753Met) | |
X | g.5893015T>A | CA515368005 | NLGN4X | c.2253A>T (p.Thr751=) c.2313A>T (p.Thr771=) n.277+10062A>T c.2256A>T (p.Thr752=) | |
X | g.5893015T>C | CA515368006 | NLGN4X | c.2253A>G (p.Thr751=) c.2313A>G (p.Thr771=) n.277+10062A>G c.2256A>G (p.Thr752=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.5893015T>G | CA515368007 | NLGN4X | c.2253A>C (p.Thr751=) c.2313A>C (p.Thr771=) n.277+10062A>C c.2256A>C (p.Thr752=) | |
X | g.5893015T= | CA2413689098 | NLGN4X | c.2253A= (p.Thr751=) c.2313A= (p.Thr771=) n.277+10062A= c.2256A= (p.Thr752=) | |
X | g.5893016G>A | CA412012643 | NLGN4X | c.2252C>T (p.Thr751Ile) c.2312C>T (p.Thr771Ile) n.277+10061C>T c.2255C>T (p.Thr752Ile) | |
X | g.5893016G>C | CA412012644 | NLGN4X | c.2252C>G (p.Thr751Arg) c.2312C>G (p.Thr771Arg) n.277+10061C>G c.2255C>G (p.Thr752Arg) | |
X | g.5893016G>T | CA412012645 | NLGN4X | c.2252C>A (p.Thr751Lys) c.2312C>A (p.Thr771Lys) n.277+10061C>A c.2255C>A (p.Thr752Lys) | |
X | g.5893017T>A | CA412012646 | NLGN4X | c.2251A>T (p.Thr751Ser) c.2311A>T (p.Thr771Ser) n.277+10060A>T c.2254A>T (p.Thr752Ser) | gnomAD v4 |
X | g.5893017T>C | CA412012647 | NLGN4X | c.2251A>G (p.Thr751Ala) c.2311A>G (p.Thr771Ala) n.277+10060A>G c.2254A>G (p.Thr752Ala) | |
X | g.5893017T>G | CA412012648 | NLGN4X | c.2251A>C (p.Thr751Pro) c.2311A>C (p.Thr771Pro) n.277+10060A>C c.2254A>C (p.Thr752Pro) | |
X | g.5893018G>A | CA515368008 | NLGN4X | c.2250C>T (p.Asp750=) c.2310C>T (p.Asp770=) n.277+10059C>T c.2253C>T (p.Asp751=) | |
X | g.5893018G>C | CA412012650 | NLGN4X | c.2250C>G (p.Asp750Glu) c.2310C>G (p.Asp770Glu) n.277+10059C>G c.2253C>G (p.Asp751Glu) | |
X | g.5893018G>T | CA412012649 | NLGN4X | c.2250C>A (p.Asp750Glu) c.2310C>A (p.Asp770Glu) n.277+10059C>A c.2253C>A (p.Asp751Glu) | |
X | g.5893018_5893048delinsGTCGTGTGCCTGCAGCGACTCACACTCGTGA | CA2413689099 | NLGN4X | c.2220_2250delinsTCACGAGTGTGAGTCGCTGCAGGCACACGAC (p.Asp740=) c.2280_2310delinsTCACGAGTGTGAGTCGCTGCAGGCACACGAC (p.Asp760=) n.277+10029_277+10059delinsTCACGAGTGTGAGTCGCTGCAGGCACACGAC c.2223_2253delinsTCACGAGTGTGAGTCGCTGCAGGCACACGAC (p.Asp741=) | |
X | g.5893019T>A | CA412012651 | NLGN4X | c.2249A>T (p.Asp750Val) c.2309A>T (p.Asp770Val) n.277+10058A>T c.2252A>T (p.Asp751Val) | |
X | g.5893019T>C | CA412012652 | NLGN4X | c.2249A>G (p.Asp750Gly) c.2309A>G (p.Asp770Gly) n.277+10058A>G c.2252A>G (p.Asp751Gly) | COSMIC COSMIC |
X | g.5893019T>G | CA412012653 | NLGN4X | c.2249A>C (p.Asp750Ala) c.2309A>C (p.Asp770Ala) n.277+10058A>C c.2252A>C (p.Asp751Ala) | |
X | g.5893025_5893054del | CA10340910 | NLGN4X | c.2220_2249del (p.His741_Asp750del) c.2280_2309del (p.His761_Asp770del) n.277+10029_277+10058del c.2223_2252del (p.His742_Asp751del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.5893020C>A | CA412012654 | NLGN4X | c.2248G>T (p.Asp750Tyr) c.2308G>T (p.Asp770Tyr) n.277+10057G>T c.2251G>T (p.Asp751Tyr) | |
X | g.5893020C= | CA2413689100 | NLGN4X | c.2248G= (p.Asp750=) c.2308G= (p.Asp770=) n.277+10057G= c.2251G= (p.Asp751=) | |
X | g.5893020C>G | CA412012655 | NLGN4X | c.2248G>C (p.Asp750His) c.2308G>C (p.Asp770His) n.277+10057G>C c.2251G>C (p.Asp751His) | |
X | g.5893020C>T | CA412012656 | NLGN4X | c.2248G>A (p.Asp750Asn) c.2308G>A (p.Asp770Asn) n.277+10057G>A c.2251G>A (p.Asp751Asn) | dbSNP gnomAD v4 |
X | g.5893021G>A | CA10340911 | NLGN4X | c.2247C>T (p.His749=) c.2307C>T (p.His769=) n.277+10056C>T c.2250C>T (p.His750=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.5893021G>C | CA412012657 | NLGN4X | c.2247C>G (p.His749Gln) c.2307C>G (p.His769Gln) n.277+10056C>G c.2250C>G (p.His750Gln) | gnomAD v4 |
X | g.5893021G= | CA2413689101 | NLGN4X | c.2247C= (p.His749=) c.2307C= (p.His769=) n.277+10056C= c.2250C= (p.His750=) | |
X | g.5893021G>T | CA412012658 | NLGN4X | c.2247C>A (p.His749Gln) c.2307C>A (p.His769Gln) n.277+10056C>A c.2250C>A (p.His750Gln) | |
X | g.5893022T>A | CA412012659 | NLGN4X | c.2246A>T (p.His749Leu) c.2306A>T (p.His769Leu) n.277+10055A>T c.2249A>T (p.His750Leu) | |
X | g.5893022T>C | CA412012660 | NLGN4X | c.2246A>G (p.His749Arg) c.2306A>G (p.His769Arg) n.277+10055A>G c.2249A>G (p.His750Arg) | |
X | g.5893022T>G | CA412012661 | NLGN4X | c.2246A>C (p.His749Pro) c.2306A>C (p.His769Pro) n.277+10055A>C c.2249A>C (p.His750Pro) | |
X | g.5893023G>A | CA412012663 | NLGN4X | c.2245C>T (p.His749Tyr) c.2305C>T (p.His769Tyr) n.277+10054C>T c.2248C>T (p.His750Tyr) | |
X | g.5893023G>C | CA412012664 | NLGN4X | c.2245C>G (p.His749Asp) c.2305C>G (p.His769Asp) n.277+10054C>G c.2248C>G (p.His750Asp) | |
X | g.5893023G>T | CA412012662 | NLGN4X | c.2245C>A (p.His749Asn) c.2305C>A (p.His769Asn) n.277+10054C>A c.2248C>A (p.His750Asn) | |
X | g.5893024T>A | CA515368009 | NLGN4X | c.2244A>T (p.Ala748=) c.2304A>T (p.Ala768=) n.277+10053A>T c.2247A>T (p.Ala749=) | |
X | g.5893024T>C | CA515368010 | NLGN4X | c.2244A>G (p.Ala748=) c.2304A>G (p.Ala768=) n.277+10053A>G c.2247A>G (p.Ala749=) | |
X | g.5893024T>G | CA515368011 | NLGN4X | c.2244A>C (p.Ala748=) c.2304A>C (p.Ala768=) n.277+10053A>C c.2247A>C (p.Ala749=) | |
X | g.5893025G>A | CA412012665 | NLGN4X | c.2243C>T (p.Ala748Val) c.2303C>T (p.Ala768Val) n.277+10052C>T c.2246C>T (p.Ala749Val) | |
X | g.5893025G>C | CA412012666 | NLGN4X | c.2243C>G (p.Ala748Gly) c.2303C>G (p.Ala768Gly) n.277+10052C>G c.2246C>G (p.Ala749Gly) | |
X | g.5893025G>T | CA412012667 | NLGN4X | c.2243C>A (p.Ala748Glu) c.2303C>A (p.Ala768Glu) n.277+10052C>A c.2246C>A (p.Ala749Glu) | |
X | g.5893026C>A | CA412012668 | NLGN4X | c.2242G>T (p.Ala748Ser) c.2302G>T (p.Ala768Ser) n.277+10051G>T c.2245G>T (p.Ala749Ser) | |
X | g.5893026C>G | CA412012669 | NLGN4X | c.2242G>C (p.Ala748Pro) c.2302G>C (p.Ala768Pro) n.277+10051G>C c.2245G>C (p.Ala749Pro) | |
X | g.5893026C>T | CA412012670 | NLGN4X | c.2242G>A (p.Ala748Thr) c.2302G>A (p.Ala768Thr) n.277+10051G>A c.2245G>A (p.Ala749Thr) | |
X | g.5893027C>A | CA412012672 | NLGN4X | c.2241G>T (p.Gln747His) c.2301G>T (p.Gln767His) n.277+10050G>T c.2244G>T (p.Gln748His) | dbSNP |
X | g.5893027C= | CA2413689102 | NLGN4X | c.2241G= (p.Gln747=) c.2301G= (p.Gln767=) n.277+10050G= c.2244G= (p.Gln748=) | |
X | g.5893027C>G | CA412012671 | NLGN4X | c.2241G>C (p.Gln747His) c.2301G>C (p.Gln767His) n.277+10050G>C c.2244G>C (p.Gln748His) | |
X | g.5893027C>T | CA515368012 | NLGN4X | c.2241G>A (p.Gln747=) c.2301G>A (p.Gln767=) n.277+10050G>A c.2244G>A (p.Gln748=) | |
X | g.5893028T>A | CA412012673 | NLGN4X | c.2240A>T (p.Gln747Leu) c.2300A>T (p.Gln767Leu) n.277+10049A>T c.2243A>T (p.Gln748Leu) | |
X | g.5893028T>C | CA412012674 | NLGN4X | c.2240A>G (p.Gln747Arg) c.2300A>G (p.Gln767Arg) n.277+10049A>G c.2243A>G (p.Gln748Arg) | |
X | g.5893028T>G | CA412012675 | NLGN4X | c.2240A>C (p.Gln747Pro) c.2300A>C (p.Gln767Pro) n.277+10049A>C c.2243A>C (p.Gln748Pro) | |
X | g.5893029G>A | CA412012676 | NLGN4X | c.2239C>T (p.Gln747Ter) c.2299C>T (p.Gln767Ter) n.277+10048C>T c.2242C>T (p.Gln748Ter) | |
X | g.5893029G>C | CA412012677 | NLGN4X | c.2239C>G (p.Gln747Glu) c.2299C>G (p.Gln767Glu) n.277+10048C>G c.2242C>G (p.Gln748Glu) | |
X | g.5893029G>T | CA412012678 | NLGN4X | c.2239C>A (p.Gln747Lys) c.2299C>A (p.Gln767Lys) n.277+10048C>A c.2242C>A (p.Gln748Lys) | COSMIC COSMIC |
X | g.5893030C>A | CA515368013 | NLGN4X | c.2238G>T (p.Leu746=) c.2298G>T (p.Leu766=) n.277+10047G>T c.2241G>T (p.Leu747=) | |
X | g.5893030C= | CA2413689103 | NLGN4X | c.2238G= (p.Leu746=) c.2298G= (p.Leu766=) n.277+10047G= c.2241G= (p.Leu747=) | |
X | g.5893030C>G | CA515368014 | NLGN4X | c.2238G>C (p.Leu746=) c.2298G>C (p.Leu766=) n.277+10047G>C c.2241G>C (p.Leu747=) | |
X | g.5893030C>T | CA515368015 | NLGN4X | c.2238G>A (p.Leu746=) c.2298G>A (p.Leu766=) n.277+10047G>A c.2241G>A (p.Leu747=) | dbSNP |
X | g.5893031A>C | CA412012681 | NLGN4X | c.2237T>G (p.Leu746Arg) c.2297T>G (p.Leu766Arg) n.277+10046T>G c.2240T>G (p.Leu747Arg) | |
X | g.5893031A>G | CA412012679 | NLGN4X | c.2237T>C (p.Leu746Pro) c.2297T>C (p.Leu766Pro) n.277+10046T>C c.2240T>C (p.Leu747Pro) | |
X | g.5893031A>T | CA412012680 | NLGN4X | c.2237T>A (p.Leu746Gln) c.2297T>A (p.Leu766Gln) n.277+10046T>A c.2240T>A (p.Leu747Gln) | |
X | g.5893032G>A | CA515368016 | NLGN4X | c.2236C>T (p.Leu746=) c.2296C>T (p.Leu766=) n.277+10045C>T c.2239C>T (p.Leu747=) | |
X | g.5893032G>C | CA412012682 | NLGN4X | c.2236C>G (p.Leu746Val) c.2296C>G (p.Leu766Val) n.277+10045C>G c.2239C>G (p.Leu747Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.5893032G= | CA2413689104 | NLGN4X | c.2236C= (p.Leu746=) c.2296C= (p.Leu766=) n.277+10045C= c.2239C= (p.Leu747=) | |
X | g.5893032G>T | CA412012683 | NLGN4X | c.2236C>A (p.Leu746Met) c.2296C>A (p.Leu766Met) n.277+10045C>A c.2239C>A (p.Leu747Met) | |
X | g.5893033C>A | CA515368017 | NLGN4X | c.2235G>T (p.Ser745=) c.2295G>T (p.Ser765=) n.277+10044G>T c.2238G>T (p.Ser746=) | |
X | g.5893033C= | CA2413689105 | NLGN4X | c.2235G= (p.Ser745=) c.2295G= (p.Ser765=) n.277+10044G= c.2238G= (p.Ser746=) | |
X | g.5893033C>G | CA515368018 | NLGN4X | c.2235G>C (p.Ser745=) c.2295G>C (p.Ser765=) n.277+10044G>C c.2238G>C (p.Ser746=) | |
X | g.5893033C>T | CA515368019 | NLGN4X | c.2235G>A (p.Ser745=) c.2295G>A (p.Ser765=) n.277+10044G>A c.2238G>A (p.Ser746=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.5893034G>A | CA10340912 | NLGN4X | c.2234C>T (p.Ser745Leu) c.2294C>T (p.Ser765Leu) n.277+10043C>T c.2237C>T (p.Ser746Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.5893034G>C | CA412012684 | NLGN4X | c.2234C>G (p.Ser745Trp) c.2294C>G (p.Ser765Trp) n.277+10043C>G c.2237C>G (p.Ser746Trp) | |
X | g.5893034G= | CA2413689106 | NLGN4X | c.2234C= (p.Ser745=) c.2294C= (p.Ser765=) n.277+10043C= c.2237C= (p.Ser746=) | |
X | g.5893034G>T | CA412012685 | NLGN4X | c.2234C>A (p.Ser745Ter) c.2294C>A (p.Ser765Ter) n.277+10043C>A c.2237C>A (p.Ser746Ter) | |
X | g.5893035A>C | CA412012686 | NLGN4X | c.2233T>G (p.Ser745Ala) c.2293T>G (p.Ser765Ala) n.277+10042T>G c.2236T>G (p.Ser746Ala) | |
X | g.5893035A>G | CA412012687 | NLGN4X | c.2233T>C (p.Ser745Pro) c.2293T>C (p.Ser765Pro) n.277+10042T>C c.2236T>C (p.Ser746Pro) | |
X | g.5893035A>T | CA412012688 | NLGN4X | c.2233T>A (p.Ser745Thr) c.2293T>A (p.Ser765Thr) n.277+10042T>A c.2236T>A (p.Ser746Thr) | |
X | g.5893036C>A | CA412012689 | NLGN4X | c.2232G>T (p.Glu744Asp) c.2292G>T (p.Glu764Asp) n.277+10041G>T c.2235G>T (p.Glu745Asp) | |
X | g.5893036C>G | CA412012690 | NLGN4X | c.2232G>C (p.Glu744Asp) c.2292G>C (p.Glu764Asp) n.277+10041G>C c.2235G>C (p.Glu745Asp) | |
X | g.5893036C>T | CA515368020 | NLGN4X | c.2232G>A (p.Glu744=) c.2292G>A (p.Glu764=) n.277+10041G>A c.2235G>A (p.Glu745=) | |
X | g.5893037T>A | CA412012691 | NLGN4X | c.2231A>T (p.Glu744Val) c.2291A>T (p.Glu764Val) n.277+10040A>T c.2234A>T (p.Glu745Val) | |
X | g.5893037T>C | CA412012692 | NLGN4X | c.2231A>G (p.Glu744Gly) c.2291A>G (p.Glu764Gly) n.277+10040A>G c.2234A>G (p.Glu745Gly) | |
X | g.5893037T>G | CA412012693 | NLGN4X | c.2231A>C (p.Glu744Ala) c.2291A>C (p.Glu764Ala) n.277+10040A>C c.2234A>C (p.Glu745Ala) | |
X | g.5893038C>A | CA412012694 | NLGN4X | c.2230G>T (p.Glu744Ter) c.2290G>T (p.Glu764Ter) n.277+10039G>T c.2233G>T (p.Glu745Ter) | |
X | g.5893038C>G | CA412012696 | NLGN4X | c.2230G>C (p.Glu744Gln) c.2290G>C (p.Glu764Gln) n.277+10039G>C c.2233G>C (p.Glu745Gln) | |
X | g.5893038C>T | CA412012695 | NLGN4X | c.2230G>A (p.Glu744Lys) c.2290G>A (p.Glu764Lys) n.277+10039G>A c.2233G>A (p.Glu745Lys) | |
X | g.5893039A= | CA2413689107 | NLGN4X | c.2229T= (p.Cys743=) c.2289T= (p.Cys763=) n.277+10038T= c.2232T= (p.Cys744=) | |
X | g.5893039A>C | CA412012697 | NLGN4X | c.2229T>G (p.Cys743Trp) c.2289T>G (p.Cys763Trp) n.277+10038T>G c.2232T>G (p.Cys744Trp) | |
X | g.5893039A>G | CA326308993 | NLGN4X | c.2229T>C (p.Cys743=) c.2289T>C (p.Cys763=) n.277+10038T>C c.2232T>C (p.Cys744=) | dbSNP |
X | g.5893039A>T | CA412012698 | NLGN4X | c.2229T>A (p.Cys743Ter) c.2289T>A (p.Cys763Ter) n.277+10038T>A c.2232T>A (p.Cys744Ter) | |
X | g.5893040C>A | CA412012699 | NLGN4X | c.2228G>T (p.Cys743Phe) c.2288G>T (p.Cys763Phe) n.277+10037G>T c.2231G>T (p.Cys744Phe) | gnomAD v4 |
X | g.5893040C>G | CA412012700 | NLGN4X | c.2228G>C (p.Cys743Ser) c.2288G>C (p.Cys763Ser) n.277+10037G>C c.2231G>C (p.Cys744Ser) | |
X | g.5893040C>T | CA412012701 | NLGN4X | c.2228G>A (p.Cys743Tyr) c.2288G>A (p.Cys763Tyr) n.277+10037G>A c.2231G>A (p.Cys744Tyr) | gnomAD v4 |
X | g.5893041A= | CA2413689108 | NLGN4X | c.2227T= (p.Cys743=) c.2287T= (p.Cys763=) n.277+10036T= c.2230T= (p.Cys744=) | |
X | g.5893041A>C | CA412012704 | NLGN4X | c.2227T>G (p.Cys743Gly) c.2287T>G (p.Cys763Gly) n.277+10036T>G c.2230T>G (p.Cys744Gly) | |
X | g.5893041A>G | CA412012703 | NLGN4X | c.2227T>C (p.Cys743Arg) c.2287T>C (p.Cys763Arg) n.277+10036T>C c.2230T>C (p.Cys744Arg) | dbSNP gnomAD v4 |
X | g.5893041A>T | CA412012702 | NLGN4X | c.2227T>A (p.Cys743Ser) c.2287T>A (p.Cys763Ser) n.277+10036T>A c.2230T>A (p.Cys744Ser) | |
X | g.5893042C>A | CA412012705 | NLGN4X | c.2226G>T (p.Glu742Asp) c.2286G>T (p.Glu762Asp) n.277+10035G>T c.2229G>T (p.Glu743Asp) | dbSNP gnomAD v4 |
X | g.5893042C= | CA2413689109 | NLGN4X | c.2226G= (p.Glu742=) c.2286G= (p.Glu762=) n.277+10035G= c.2229G= (p.Glu743=) | |
X | g.5893042C>G | CA412012706 | NLGN4X | c.2226G>C (p.Glu742Asp) c.2286G>C (p.Glu762Asp) n.277+10035G>C c.2229G>C (p.Glu743Asp) | |
X | g.5893042C>T | CA10340913 | NLGN4X | c.2226G>A (p.Glu742=) c.2286G>A (p.Glu762=) n.277+10035G>A c.2229G>A (p.Glu743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.5893043T>A | CA412012707 | NLGN4X | c.2225A>T (p.Glu742Val) c.2285A>T (p.Glu762Val) n.277+10034A>T c.2228A>T (p.Glu743Val) | |
X | g.5893043T>C | CA412012708 | NLGN4X | c.2225A>G (p.Glu742Gly) c.2285A>G (p.Glu762Gly) n.277+10034A>G c.2228A>G (p.Glu743Gly) | COSMIC COSMIC |
X | g.5893043T>G | CA412012709 | NLGN4X | c.2225A>C (p.Glu742Ala) c.2285A>C (p.Glu762Ala) n.277+10034A>C c.2228A>C (p.Glu743Ala) | |
X | g.5893044C>A | CA412012710 | NLGN4X | c.2224G>T (p.Glu742Ter) c.2284G>T (p.Glu762Ter) n.277+10033G>T c.2227G>T (p.Glu743Ter) | COSMIC |
X | g.5893044C= | CA2413689110 | NLGN4X | c.2224G= (p.Glu742=) c.2284G= (p.Glu762=) n.277+10033G= c.2227G= (p.Glu743=) | |
X | g.5893044C>G | CA412012712 | NLGN4X | c.2224G>C (p.Glu742Gln) c.2284G>C (p.Glu762Gln) n.277+10033G>C c.2227G>C (p.Glu743Gln) | |
X | g.5893044C>T | CA412012711 | NLGN4X | c.2224G>A (p.Glu742Lys) c.2284G>A (p.Glu762Lys) n.277+10033G>A c.2227G>A (p.Glu743Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.5893045G>A | CA10340914 | NLGN4X | c.2223C>T (p.His741=) c.2283C>T (p.His761=) n.277+10032C>T c.2226C>T (p.His742=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.5893045G>C | CA412012713 | NLGN4X | c.2223C>G (p.His741Gln) c.2283C>G (p.His761Gln) n.277+10032C>G c.2226C>G (p.His742Gln) | |
X | g.5893045G= | CA2413689111 | NLGN4X | c.2223C= (p.His741=) c.2283C= (p.His761=) n.277+10032C= c.2226C= (p.His742=) | |
X | g.5893045G>T | CA412012714 | NLGN4X | c.2223C>A (p.His741Gln) c.2283C>A (p.His761Gln) n.277+10032C>A c.2226C>A (p.His742Gln) | gnomAD v4 |
X | g.5893046T>A | CA412012715 | NLGN4X | c.2222A>T (p.His741Leu) c.2282A>T (p.His761Leu) n.277+10031A>T c.2225A>T (p.His742Leu) | |
X | g.5893046T>C | CA412012716 | NLGN4X | c.2222A>G (p.His741Arg) c.2282A>G (p.His761Arg) n.277+10031A>G c.2225A>G (p.His742Arg) | |
X | g.5893046T>G | CA412012717 | NLGN4X | c.2222A>C (p.His741Pro) c.2282A>C (p.His761Pro) n.277+10031A>C c.2225A>C (p.His742Pro) | |
X | g.5893047G>A | CA412012718 | NLGN4X | c.2221C>T (p.His741Tyr) c.2281C>T (p.His761Tyr) n.277+10030C>T c.2224C>T (p.His742Tyr) | |
X | g.5893047G>C | CA412012719 | NLGN4X | c.2221C>G (p.His741Asp) c.2281C>G (p.His761Asp) n.277+10030C>G c.2224C>G (p.His742Asp) | |
X | g.5893047G>T | CA412012720 | NLGN4X | c.2221C>A (p.His741Asn) c.2281C>A (p.His761Asn) n.277+10030C>A c.2224C>A (p.His742Asn) | |
X | g.5893048A>C | CA412012721 | NLGN4X | c.2220T>G (p.Asp740Glu) c.2280T>G (p.Asp760Glu) n.277+10029T>G c.2223T>G (p.Asp741Glu) | |
X | g.5893048A>G | CA515368021 | NLGN4X | c.2220T>C (p.Asp740=) c.2280T>C (p.Asp760=) n.277+10029T>C c.2223T>C (p.Asp741=) | gnomAD v4 |
X | g.5893048A>T | CA412012722 | NLGN4X | c.2220T>A (p.Asp740Glu) c.2280T>A (p.Asp760Glu) n.277+10029T>A c.2223T>A (p.Asp741Glu) | |
X | g.5893049T>A | CA412012725 | NLGN4X | c.2219A>T (p.Asp740Val) c.2279A>T (p.Asp760Val) n.277+10028A>T c.2222A>T (p.Asp741Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.5893049T>C | CA412012724 | NLGN4X | c.2219A>G (p.Asp740Gly) c.2279A>G (p.Asp760Gly) n.277+10028A>G c.2222A>G (p.Asp741Gly) | gnomAD v4 |
X | g.5893049T>G | CA412012723 | NLGN4X | c.2219A>C (p.Asp740Ala) c.2279A>C (p.Asp760Ala) n.277+10028A>C c.2222A>C (p.Asp741Ala) | |
X | g.5893049T= | CA2413689112 | NLGN4X | c.2219A= (p.Asp740=) c.2279A= (p.Asp760=) n.277+10028A= c.2222A= (p.Asp741=) | |
X | g.5893050C>A | CA412012726 | NLGN4X | c.2218G>T (p.Asp740Tyr) c.2278G>T (p.Asp760Tyr) n.277+10027G>T c.2221G>T (p.Asp741Tyr) | |
X | g.5893050C= | CA2413689113 | NLGN4X | c.2218G= (p.Asp740=) c.2278G= (p.Asp760=) n.277+10027G= c.2221G= (p.Asp741=) | |
X | g.5893050C>G | CA412012727 | NLGN4X | c.2218G>C (p.Asp740His) c.2278G>C (p.Asp760His) n.277+10027G>C c.2221G>C (p.Asp741His) | |
X | g.5893050C>T | CA326308994 | NLGN4X | c.2218G>A (p.Asp740Asn) c.2278G>A (p.Asp760Asn) n.277+10027G>A c.2221G>A (p.Asp741Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.5893051G>A | CA10340915 | NLGN4X | c.2217C>T (p.His739=) c.2277C>T (p.His759=) n.277+10026C>T c.2220C>T (p.His740=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.5893051G>C | CA412012729 | NLGN4X | c.2217C>G (p.His739Gln) c.2277C>G (p.His759Gln) n.277+10026C>G c.2220C>G (p.His740Gln) | |
X | g.5893051G= | CA2413689114 | NLGN4X | c.2217C= (p.His739=) c.2277C= (p.His759=) n.277+10026C= c.2220C= (p.His740=) | |
X | g.5893051G>T | CA412012728 | NLGN4X | c.2217C>A (p.His739Gln) c.2277C>A (p.His759Gln) n.277+10026C>A c.2220C>A (p.His740Gln) | |
X | g.5893052T>A | CA412012730 | NLGN4X | c.2216A>T (p.His739Leu) c.2276A>T (p.His759Leu) n.277+10025A>T c.2219A>T (p.His740Leu) | |
X | g.5893052T>C | CA412012731 | NLGN4X | c.2216A>G (p.His739Arg) c.2276A>G (p.His759Arg) n.277+10025A>G c.2219A>G (p.His740Arg) | |
X | g.5893052T>G | CA412012732 | NLGN4X | c.2216A>C (p.His739Pro) c.2276A>C (p.His759Pro) n.277+10025A>C c.2219A>C (p.His740Pro) | |
X | g.5893053G>A | CA412012733 | NLGN4X | c.2215C>T (p.His739Tyr) c.2275C>T (p.His759Tyr) n.277+10024C>T c.2218C>T (p.His740Tyr) | |
X | g.5893053G>C | CA412012734 | NLGN4X | c.2215C>G (p.His739Asp) c.2275C>G (p.His759Asp) n.277+10024C>G c.2218C>G (p.His740Asp) | |
X | g.5893053G>T | CA412012735 | NLGN4X | c.2215C>A (p.His739Asn) c.2275C>A (p.His759Asn) n.277+10024C>A c.2218C>A (p.His740Asn) | |
X | g.5893054T>A | CA412012737 | NLGN4X | c.2214A>T (p.Glu738Asp) c.2274A>T (p.Glu758Asp) n.277+10023A>T c.2217A>T (p.Glu739Asp) | dbSNP gnomAD v3 gnomAD v4 |
X | g.5893054T>C | CA515368022 | NLGN4X | c.2214A>G (p.Glu738=) c.2274A>G (p.Glu758=) n.277+10023A>G c.2217A>G (p.Glu739=) | |
X | g.5893054T>G | CA412012736 | NLGN4X | c.2214A>C (p.Glu738Asp) c.2274A>C (p.Glu758Asp) n.277+10023A>C c.2217A>C (p.Glu739Asp) | |
X | g.5893054T= | CA2413689115 | NLGN4X | c.2214A= (p.Glu738=) c.2274A= (p.Glu758=) n.277+10023A= c.2217A= (p.Glu739=) | |
X | g.5893055T>A | CA412012738 | NLGN4X | c.2213A>T (p.Glu738Val) c.2273A>T (p.Glu758Val) n.277+10022A>T c.2216A>T (p.Glu739Val) | |
X | g.5893055T>C | CA412012739 | NLGN4X | c.2213A>G (p.Glu738Gly) c.2273A>G (p.Glu758Gly) n.277+10022A>G c.2216A>G (p.Glu739Gly) | gnomAD v4 |
X | g.5893055T>G | CA412012740 | NLGN4X | c.2213A>C (p.Glu738Ala) c.2273A>C (p.Glu758Ala) n.277+10022A>C c.2216A>C (p.Glu739Ala) | |
X | g.5893056C>A | CA412012741 | NLGN4X | c.2212G>T (p.Glu738Ter) c.2272G>T (p.Glu758Ter) n.277+10021G>T c.2215G>T (p.Glu739Ter) | |
X | g.5893056C>G | CA412012742 | NLGN4X | c.2212G>C (p.Glu738Gln) c.2272G>C (p.Glu758Gln) n.277+10021G>C c.2215G>C (p.Glu739Gln) | |
X | g.5893056C>T | CA412012743 | NLGN4X | c.2212G>A (p.Glu738Lys) c.2272G>A (p.Glu758Lys) n.277+10021G>A c.2215G>A (p.Glu739Lys) | |
X | g.5893057C>A | CA515368023 | NLGN4X | c.2211G>T (p.Leu737=) c.2271G>T (p.Leu757=) n.277+10020G>T c.2214G>T (p.Leu738=) | |
X | g.5893057C= | CA2413689116 | NLGN4X | c.2211G= (p.Leu737=) c.2271G= (p.Leu757=) n.277+10020G= c.2214G= (p.Leu738=) | |
X | g.5893057C>G | CA515368024 | NLGN4X | c.2211G>C (p.Leu737=) c.2271G>C (p.Leu757=) n.277+10020G>C c.2214G>C (p.Leu738=) | |
X | g.5893057C>T | CA515368025 | NLGN4X | c.2211G>A (p.Leu737=) c.2271G>A (p.Leu757=) n.277+10020G>A c.2214G>A (p.Leu738=) | dbSNP |
X | g.5893058A>C | CA412012746 | NLGN4X | c.2210T>G (p.Leu737Arg) c.2270T>G (p.Leu757Arg) n.277+10019T>G c.2213T>G (p.Leu738Arg) | |
X | g.5893058A>G | CA412012744 | NLGN4X | c.2210T>C (p.Leu737Pro) c.2270T>C (p.Leu757Pro) n.277+10019T>C c.2213T>C (p.Leu738Pro) | |
X | g.5893058A>T | CA412012745 | NLGN4X | c.2210T>A (p.Leu737Gln) c.2270T>A (p.Leu757Gln) n.277+10019T>A c.2213T>A (p.Leu738Gln) | |
X | g.5893059G>A | CA515368026 | NLGN4X | c.2209C>T (p.Leu737=) c.2269C>T (p.Leu757=) n.277+10018C>T c.2212C>T (p.Leu738=) | |
X | g.5893059G>C | CA412012747 | NLGN4X | c.2209C>G (p.Leu737Val) c.2269C>G (p.Leu757Val) n.277+10018C>G c.2212C>G (p.Leu738Val) | |
X | g.5893059G>T | CA412012748 | NLGN4X | c.2209C>A (p.Leu737Met) c.2269C>A (p.Leu757Met) n.277+10018C>A c.2212C>A (p.Leu738Met) | |
X | g.5893060C>A | CA412012749 | NLGN4X | c.2208G>T (p.Gln736His) c.2268G>T (p.Gln756His) n.277+10017G>T c.2211G>T (p.Gln737His) | |
X | g.5893060C>G | CA412012750 | NLGN4X | c.2208G>C (p.Gln736His) c.2268G>C (p.Gln756His) n.277+10017G>C c.2211G>C (p.Gln737His) | COSMIC COSMIC |
X | g.5893060C>T | CA515368027 | NLGN4X | c.2208G>A (p.Gln736=) c.2268G>A (p.Gln756=) n.277+10017G>A c.2211G>A (p.Gln737=) | gnomAD v4 |
X | g.5893061T>A | CA412012751 | NLGN4X | c.2207A>T (p.Gln736Leu) c.2267A>T (p.Gln756Leu) n.277+10016A>T c.2210A>T (p.Gln737Leu) | |
X | g.5893061T>C | CA412012752 | NLGN4X | c.2207A>G (p.Gln736Arg) c.2267A>G (p.Gln756Arg) n.277+10016A>G c.2210A>G (p.Gln737Arg) | |
X | g.5893061T>G | CA412012753 | NLGN4X | c.2207A>C (p.Gln736Pro) c.2267A>C (p.Gln756Pro) n.277+10016A>C c.2210A>C (p.Gln737Pro) | |
X | g.5893062G>A | CA412012754 | NLGN4X | c.2206C>T (p.Gln736Ter) c.2266C>T (p.Gln756Ter) n.277+10015C>T c.2209C>T (p.Gln737Ter) | |
X | g.5893062G>C | CA412012755 | NLGN4X | c.2206C>G (p.Gln736Glu) c.2266C>G (p.Gln756Glu) n.277+10015C>G c.2209C>G (p.Gln737Glu) | |
X | g.5893062G>T | CA412012756 | NLGN4X | c.2206C>A (p.Gln736Lys) c.2266C>A (p.Gln756Lys) n.277+10015C>A c.2209C>A (p.Gln737Lys) | |
X | g.5893063C>A | CA412012757 | NLGN4X | c.2205G>T (p.Lys735Asn) c.2265G>T (p.Lys755Asn) n.277+10014G>T c.2208G>T (p.Lys736Asn) | |
X | g.5893063C>G | CA412012758 | NLGN4X | c.2205G>C (p.Lys735Asn) c.2265G>C (p.Lys755Asn) n.277+10014G>C c.2208G>C (p.Lys736Asn) | |
X | g.5893063C>T | CA515368028 | NLGN4X | c.2205G>A (p.Lys735=) c.2265G>A (p.Lys755=) n.277+10014G>A c.2208G>A (p.Lys736=) | |
X | g.5893064T>A | CA412012759 | NLGN4X | c.2204A>T (p.Lys735Met) c.2264A>T (p.Lys755Met) n.277+10013A>T c.2207A>T (p.Lys736Met) | |
X | g.5893064T>C | CA412012761 | NLGN4X | c.2204A>G (p.Lys735Arg) c.2264A>G (p.Lys755Arg) n.277+10013A>G c.2207A>G (p.Lys736Arg) | dbSNP |
X | g.5893064T>G | CA412012760 | NLGN4X | c.2204A>C (p.Lys735Thr) c.2264A>C (p.Lys755Thr) n.277+10013A>C c.2207A>C (p.Lys736Thr) | |
X | g.5893065T>A | CA412012762 | NLGN4X | c.2203A>T (p.Lys735Ter) c.2263A>T (p.Lys755Ter) n.277+10012A>T c.2206A>T (p.Lys736Ter) | |
X | g.5893065T>C | CA412012763 | NLGN4X | c.2203A>G (p.Lys735Glu) c.2263A>G (p.Lys755Glu) n.277+10012A>G c.2206A>G (p.Lys736Glu) | |
X | g.5893065T>G | CA412012764 | NLGN4X | c.2203A>C (p.Lys735Gln) c.2263A>C (p.Lys755Gln) n.277+10012A>C c.2206A>C (p.Lys736Gln) | |
X | g.5893066C>A | CA412012765 | NLGN4X | c.2202G>T (p.Met734Ile) c.2262G>T (p.Met754Ile) n.277+10011G>T c.2205G>T (p.Met735Ile) | |
X | g.5893066C>G | CA412012766 | NLGN4X | c.2202G>C (p.Met734Ile) c.2262G>C (p.Met754Ile) n.277+10011G>C c.2205G>C (p.Met735Ile) | |
X | g.5893066C>T | CA412012767 | NLGN4X | c.2202G>A (p.Met734Ile) c.2262G>A (p.Met754Ile) n.277+10011G>A c.2205G>A (p.Met735Ile) | |
X | g.5893067A>C | CA412012768 | NLGN4X | c.2201T>G (p.Met734Arg) c.2261T>G (p.Met754Arg) n.277+10010T>G c.2204T>G (p.Met735Arg) | COSMIC COSMIC |
X | g.5893067A>G | CA412012769 | NLGN4X | c.2201T>C (p.Met734Thr) c.2261T>C (p.Met754Thr) n.277+10010T>C c.2204T>C (p.Met735Thr) | |
X | g.5893067A>T | CA412012770 | NLGN4X | c.2201T>A (p.Met734Lys) c.2261T>A (p.Met754Lys) n.277+10010T>A c.2204T>A (p.Met735Lys) | |
X | g.5893068T>A | CA412012771 | NLGN4X | c.2200A>T (p.Met734Leu) c.2260A>T (p.Met754Leu) n.277+10009A>T c.2203A>T (p.Met735Leu) | |
X | g.5893068T>C | CA412012772 | NLGN4X | c.2200A>G (p.Met734Val) c.2260A>G (p.Met754Val) n.277+10009A>G c.2203A>G (p.Met735Val) | |
X | g.5893068T>G | CA412012773 | NLGN4X | c.2200A>C (p.Met734Leu) c.2260A>C (p.Met754Leu) n.277+10009A>C c.2203A>C (p.Met735Leu) | |
X | g.5893069C>A | CA412012775 | NLGN4X | c.2199G>T (p.Gln733His) c.2259G>T (p.Gln753His) n.277+10008G>T c.2202G>T (p.Gln734His) | |
X | g.5893069C>G | CA412012774 | NLGN4X | c.2199G>C (p.Gln733His) c.2259G>C (p.Gln753His) n.277+10008G>C c.2202G>C (p.Gln734His) | |
X | g.5893069C>T | CA515368029 | NLGN4X | c.2199G>A (p.Gln733=) c.2259G>A (p.Gln753=) n.277+10008G>A c.2202G>A (p.Gln734=) | |
X | g.5893070T>A | CA412012776 | NLGN4X | c.2198A>T (p.Gln733Leu) c.2258A>T (p.Gln753Leu) n.277+10007A>T c.2201A>T (p.Gln734Leu) | |
X | g.5893070T>C | CA412012777 | NLGN4X | c.2198A>G (p.Gln733Arg) c.2258A>G (p.Gln753Arg) n.277+10007A>G c.2201A>G (p.Gln734Arg) | |
X | g.5893070T>G | CA412012778 | NLGN4X | c.2198A>C (p.Gln733Pro) c.2258A>C (p.Gln753Pro) n.277+10007A>C c.2201A>C (p.Gln734Pro) | |
X | g.5893071G>A | CA412012779 | NLGN4X | c.2197C>T (p.Gln733Ter) c.2257C>T (p.Gln753Ter) n.277+10006C>T c.2200C>T (p.Gln734Ter) | |
X | g.5893071G>C | CA412012780 | NLGN4X | c.2197C>G (p.Gln733Glu) c.2257C>G (p.Gln753Glu) n.277+10006C>G c.2200C>G (p.Gln734Glu) | |
X | g.5893071G>T | CA412012781 | NLGN4X | c.2197C>A (p.Gln733Lys) c.2257C>A (p.Gln753Lys) n.277+10006C>A c.2200C>A (p.Gln734Lys) | |
X | g.5893072C>A | CA515368134 | NLGN4X | c.2196G>T (p.Leu732=) c.2256G>T (p.Leu752=) n.277+10005G>T c.2199G>T (p.Leu733=) | |
X | g.5893072C>G | CA515368135 | NLGN4X | c.2196G>C (p.Leu732=) c.2256G>C (p.Leu752=) n.277+10005G>C c.2199G>C (p.Leu733=) | |
X | g.5893072C>T | CA515368136 | NLGN4X | c.2196G>A (p.Leu732=) c.2256G>A (p.Leu752=) n.277+10005G>A c.2199G>A (p.Leu733=) | |
X | g.5893073A>C | CA412012782 | NLGN4X | c.2195T>G (p.Leu732Arg) c.2255T>G (p.Leu752Arg) n.277+10004T>G c.2198T>G (p.Leu733Arg) | |
X | g.5893073A>G | CA412012783 | NLGN4X | c.2195T>C (p.Leu732Pro) c.2255T>C (p.Leu752Pro) n.277+10004T>C c.2198T>C (p.Leu733Pro) | |
X | g.5893073A>T | CA412012784 | NLGN4X | c.2195T>A (p.Leu732Gln) c.2255T>A (p.Leu752Gln) n.277+10004T>A c.2198T>A (p.Leu733Gln) | |
X | g.5893074G>A | CA10340916 | NLGN4X | c.2194C>T (p.Leu732=) c.2254C>T (p.Leu752=) n.277+10003C>T c.2197C>T (p.Leu733=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.5893074G>C | CA412012785 | NLGN4X | c.2194C>G (p.Leu732Val) c.2254C>G (p.Leu752Val) n.277+10003C>G c.2197C>G (p.Leu733Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.5893074G= | CA2413689117 | NLGN4X | c.2194C= (p.Leu732=) c.2254C= (p.Leu752=) n.277+10003C= c.2197C= (p.Leu733=) | |
X | g.5893074G>T | CA412012786 | NLGN4X | c.2194C>A (p.Leu732Met) c.2254C>A (p.Leu752Met) n.277+10003C>A c.2197C>A (p.Leu733Met) | |
X | g.5893075A>C | CA515368137 | NLGN4X | c.2193T>G (p.Ser731=) c.2253T>G (p.Ser751=) n.277+10002T>G c.2196T>G (p.Ser732=) | gnomAD v4 |
X | g.5893075A>G | CA515368138 | NLGN4X | c.2193T>C (p.Ser731=) c.2253T>C (p.Ser751=) n.277+10002T>C c.2196T>C (p.Ser732=) | |
X | g.5893075A>T | CA515368139 | NLGN4X | c.2193T>A (p.Ser731=) c.2253T>A (p.Ser751=) n.277+10002T>A c.2196T>A (p.Ser732=) | |
X | g.5893076G>A | CA412012789 | NLGN4X | c.2192C>T (p.Ser731Phe) c.2252C>T (p.Ser751Phe) n.277+10001C>T c.2195C>T (p.Ser732Phe) | ClinVar dbSNP gnomAD v4 |
X | g.5893076G>C | CA412012788 | NLGN4X | c.2192C>G (p.Ser731Cys) c.2252C>G (p.Ser751Cys) n.277+10001C>G c.2195C>G (p.Ser732Cys) | |
X | g.5893076G>T | CA412012787 | NLGN4X | c.2192C>A (p.Ser731Tyr) c.2252C>A (p.Ser751Tyr) n.277+10001C>A c.2195C>A (p.Ser732Tyr) | COSMIC COSMIC |
X | g.5893077A= | CA2413689118 | NLGN4X | c.2191T= (p.Ser731=) c.2251T= (p.Ser751=) n.277+10000T= c.2194T= (p.Ser732=) | |
X | g.5893077A>C | CA412012790 | NLGN4X | c.2191T>G (p.Ser731Ala) c.2251T>G (p.Ser751Ala) n.277+10000T>G c.2194T>G (p.Ser732Ala) | |
X | g.5893077A>G | CA10340917 | NLGN4X | c.2191T>C (p.Ser731Pro) c.2251T>C (p.Ser751Pro) n.277+10000T>C c.2194T>C (p.Ser732Pro) | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
X | g.5893077A>T | CA412012791 | NLGN4X | c.2191T>A (p.Ser731Thr) c.2251T>A (p.Ser751Thr) n.277+10000T>A c.2194T>A (p.Ser732Thr) | |
X | g.5893078C>A | CA412012792 | NLGN4X | c.2190G>T (p.Met730Ile) c.2250G>T (p.Met750Ile) n.277+9999G>T c.2193G>T (p.Met731Ile) | dbSNP |
X | g.5893078C= | CA2413689119 | NLGN4X | c.2190G= (p.Met730=) c.2250G= (p.Met750=) n.277+9999G= c.2193G= (p.Met731=) | |
X | g.5893078C>G | CA412012793 | NLGN4X | c.2190G>C (p.Met730Ile) c.2250G>C (p.Met750Ile) n.277+9999G>C c.2193G>C (p.Met731Ile) | |
X | g.5893078C>T | CA10340918 | NLGN4X | c.2190G>A (p.Met730Ile) c.2250G>A (p.Met750Ile) n.277+9999G>A c.2193G>A (p.Met731Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.5893079A>C | CA412012794 | NLGN4X | c.2189T>G (p.Met730Arg) c.2249T>G (p.Met750Arg) n.277+9998T>G c.2192T>G (p.Met731Arg) | |
X | g.5893079A>G | CA412012795 | NLGN4X | c.2189T>C (p.Met730Thr) c.2249T>C (p.Met750Thr) n.277+9998T>C c.2192T>C (p.Met731Thr) | |
X | g.5893079A>T | CA412012796 | NLGN4X | c.2189T>A (p.Met730Lys) c.2249T>A (p.Met750Lys) n.277+9998T>A c.2192T>A (p.Met731Lys) | |
X | g.5893080T>A | CA412012797 | NLGN4X | c.2188A>T (p.Met730Leu) c.2248A>T (p.Met750Leu) n.277+9997A>T c.2191A>T (p.Met731Leu) | |
X | g.5893080T>C | CA412012798 | NLGN4X | c.2188A>G (p.Met730Val) c.2248A>G (p.Met750Val) n.277+9997A>G c.2191A>G (p.Met731Val) | |
X | g.5893080T>G | CA412012799 | NLGN4X | c.2188A>C (p.Met730Leu) c.2248A>C (p.Met750Leu) n.277+9997A>C c.2191A>C (p.Met731Leu) | |
X | g.5893081G>A | CA515368140 | NLGN4X | c.2187C>T (p.Ile729=) c.2247C>T (p.Ile749=) n.277+9996C>T c.2190C>T (p.Ile730=) | |
X | g.5893081G>C | CA412012800 | NLGN4X | c.2187C>G (p.Ile729Met) c.2247C>G (p.Ile749Met) n.277+9996C>G c.2190C>G (p.Ile730Met) | gnomAD v4 |
X | g.5893081G= | CA2413689120 | NLGN4X | c.2187C= (p.Ile729=) c.2247C= (p.Ile749=) n.277+9996C= c.2190C= (p.Ile730=) | |
X | g.5893081G>T | CA326308995 | NLGN4X | c.2187C>A (p.Ile729=) c.2247C>A (p.Ile749=) n.277+9996C>A c.2190C>A (p.Ile730=) | dbSNP |
X | g.5893082A= | CA2413689121 | NLGN4X | c.2186T= (p.Ile729=) c.2246T= (p.Ile749=) n.277+9995T= c.2189T= (p.Ile730=) | |
X | g.5893082A>C | CA412012803 | NLGN4X | c.2186T>G (p.Ile729Ser) c.2246T>G (p.Ile749Ser) n.277+9995T>G c.2189T>G (p.Ile730Ser) | |
X | g.5893082A>G | CA412012802 | NLGN4X | c.2186T>C (p.Ile729Thr) c.2246T>C (p.Ile749Thr) n.277+9995T>C c.2189T>C (p.Ile730Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.5893082A>T | CA412012801 | NLGN4X | c.2186T>A (p.Ile729Asn) c.2246T>A (p.Ile749Asn) n.277+9995T>A c.2189T>A (p.Ile730Asn) | |
X | g.5893083T>A | CA412012804 | NLGN4X | c.2185A>T (p.Ile729Phe) c.2245A>T (p.Ile749Phe) n.277+9994A>T c.2188A>T (p.Ile730Phe) | |
X | g.5893083T>C | CA412012805 | NLGN4X | c.2185A>G (p.Ile729Val) c.2245A>G (p.Ile749Val) n.277+9994A>G c.2188A>G (p.Ile730Val) | |
X | g.5893083T>G | CA412012806 | NLGN4X | c.2185A>C (p.Ile729Leu) c.2245A>C (p.Ile749Leu) n.277+9994A>C c.2188A>C (p.Ile730Leu) | |
X | g.5893084C>A | CA412012807 | NLGN4X | c.2184G>T (p.Glu728Asp) c.2244G>T (p.Glu748Asp) n.277+9993G>T c.2187G>T (p.Glu729Asp) | dbSNP COSMIC |
X | g.5893084C= | CA2413689122 | NLGN4X | c.2184G= (p.Glu728=) c.2244G= (p.Glu748=) n.277+9993G= c.2187G= (p.Glu729=) | |
X | g.5893084C>G | CA412012808 | NLGN4X | c.2184G>C (p.Glu728Asp) c.2244G>C (p.Glu748Asp) n.277+9993G>C c.2187G>C (p.Glu729Asp) | |
X | g.5893084C>T | CA515368141 | NLGN4X | c.2184G>A (p.Glu728=) c.2244G>A (p.Glu748=) n.277+9993G>A c.2187G>A (p.Glu729=) | |
X | g.5893085T>A | CA412012809 | NLGN4X | c.2183A>T (p.Glu728Val) c.2243A>T (p.Glu748Val) n.277+9992A>T c.2186A>T (p.Glu729Val) | |
X | g.5893085T>C | CA412012810 | NLGN4X | c.2183A>G (p.Glu728Gly) c.2243A>G (p.Glu748Gly) n.277+9992A>G c.2186A>G (p.Glu729Gly) | |
X | g.5893085T>G | CA412012811 | NLGN4X | c.2183A>C (p.Glu728Ala) c.2243A>C (p.Glu748Ala) n.277+9992A>C c.2186A>C (p.Glu729Ala) | |
X | g.5893086C>A | CA412012812 | NLGN4X | c.2182G>T (p.Glu728Ter) c.2242G>T (p.Glu748Ter) n.277+9991G>T c.2185G>T (p.Glu729Ter) | |
X | g.5893086C>G | CA412012813 | NLGN4X | c.2182G>C (p.Glu728Gln) c.2242G>C (p.Glu748Gln) n.277+9991G>C c.2185G>C (p.Glu729Gln) | |
X | g.5893086C>T | CA412012814 | NLGN4X | c.2182G>A (p.Glu728Lys) c.2242G>A (p.Glu748Lys) n.277+9991G>A c.2185G>A (p.Glu729Lys) | ClinVar |
X | g.5893087T>A | CA412012815 | NLGN4X | c.2181A>T (p.Glu727Asp) c.2241A>T (p.Glu747Asp) n.277+9990A>T c.2184A>T (p.Glu728Asp) | |
X | g.5893087T>C | CA10340919 | NLGN4X | c.2181A>G (p.Glu727=) c.2241A>G (p.Glu747=) n.277+9990A>G c.2184A>G (p.Glu728=) | dbSNP ExAC gnomAD v4 |
X | g.5893087T>G | CA412012816 | NLGN4X | c.2181A>C (p.Glu727Asp) c.2241A>C (p.Glu747Asp) n.277+9990A>C c.2184A>C (p.Glu728Asp) | |
X | g.5893087T= | CA2413689123 | NLGN4X | c.2181A= (p.Glu727=) c.2241A= (p.Glu747=) n.277+9990A= c.2184A= (p.Glu728=) | |
X | g.5893088T>A | CA412012818 | NLGN4X | c.2180A>T (p.Glu727Val) c.2240A>T (p.Glu747Val) n.277+9989A>T c.2183A>T (p.Glu728Val) | |
X | g.5893088T>C | CA412012819 | NLGN4X | c.2180A>G (p.Glu727Gly) c.2240A>G (p.Glu747Gly) n.277+9989A>G c.2183A>G (p.Glu728Gly) | |
X | g.5893088T>G | CA412012817 | NLGN4X | c.2180A>C (p.Glu727Ala) c.2240A>C (p.Glu747Ala) n.277+9989A>C c.2183A>C (p.Glu728Ala) | |
X | g.5893089del | CA2512734809 | NLGN4X | c.2179del (p.Glu727LysfsTer8) c.2239del (p.Glu747LysfsTer8) n.277+9988del c.2182del (p.Glu728LysfsTer8) | |
X | g.5893089C>A | CA412012820 | NLGN4X | c.2179G>T (p.Glu727Ter) c.2239G>T (p.Glu747Ter) n.277+9988G>T c.2182G>T (p.Glu728Ter) | COSMIC |
X | g.5893089C= | CA2413689124 | NLGN4X | c.2179G= (p.Glu727=) c.2239G= (p.Glu747=) n.277+9988G= c.2182G= (p.Glu728=) | |
X | g.5893089C>G | CA412012821 | NLGN4X | c.2179G>C (p.Glu727Gln) c.2239G>C (p.Glu747Gln) n.277+9988G>C c.2182G>C (p.Glu728Gln) | |
X | g.5893089C>T | CA10340920 | NLGN4X | c.2179G>A (p.Glu727Lys) c.2239G>A (p.Glu747Lys) n.277+9988G>A c.2182G>A (p.Glu728Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.5893090G>A | CA10340921 | NLGN4X | c.2178C>T (p.Asn726=) c.2238C>T (p.Asn746=) n.277+9987C>T c.2181C>T (p.Asn727=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.5893090G>C | CA412012822 | NLGN4X | c.2178C>G (p.Asn726Lys) c.2238C>G (p.Asn746Lys) n.277+9987C>G c.2181C>G (p.Asn727Lys) | |
X | g.5893090G= | CA2413689125 | NLGN4X | c.2178C= (p.Asn726=) c.2238C= (p.Asn746=) n.277+9987C= c.2181C= (p.Asn727=) | |
X | g.5893090G>T | CA326308996 | NLGN4X | c.2178C>A (p.Asn726Lys) c.2238C>A (p.Asn746Lys) n.277+9987C>A c.2181C>A (p.Asn727Lys) | dbSNP |
X | g.5893091T>A | CA412012823 | NLGN4X | c.2177A>T (p.Asn726Ile) c.2237A>T (p.Asn746Ile) n.277+9986A>T c.2180A>T (p.Asn727Ile) | |
X | g.5893091T>C | CA412012824 | NLGN4X | c.2177A>G (p.Asn726Ser) c.2237A>G (p.Asn746Ser) n.277+9986A>G c.2180A>G (p.Asn727Ser) | |
X | g.5893091T>G | CA412012825 | NLGN4X | c.2177A>C (p.Asn726Thr) c.2237A>C (p.Asn746Thr) n.277+9986A>C c.2180A>C (p.Asn727Thr) | |
X | g.5893092T>A | CA412012826 | NLGN4X | c.2176A>T (p.Asn726Tyr) c.2236A>T (p.Asn746Tyr) n.277+9985A>T c.2179A>T (p.Asn727Tyr) | |
X | g.5893092T>C | CA412012827 | NLGN4X | c.2176A>G (p.Asn726Asp) c.2236A>G (p.Asn746Asp) n.277+9985A>G c.2179A>G (p.Asn727Asp) | |
X | g.5893092T>G | CA412012828 | NLGN4X | c.2176A>C (p.Asn726His) c.2236A>C (p.Asn746His) n.277+9985A>C c.2179A>C (p.Asn727His) | |
X | g.5893093C>A | CA412012830 | NLGN4X | c.2175G>T (p.Gln725His) c.2235G>T (p.Gln745His) n.277+9984G>T c.2178G>T (p.Gln726His) | |
X | g.5893093C>G | CA412012829 | NLGN4X | c.2175G>C (p.Gln725His) c.2235G>C (p.Gln745His) n.277+9984G>C c.2178G>C (p.Gln726His) | |
X | g.5893093C>T | CA515368142 | NLGN4X | c.2175G>A (p.Gln725=) c.2235G>A (p.Gln745=) n.277+9984G>A c.2178G>A (p.Gln726=) | gnomAD v4 |
X | g.5893094T>A | CA412012831 | NLGN4X | c.2174A>T (p.Gln725Leu) c.2234A>T (p.Gln745Leu) n.277+9983A>T c.2177A>T (p.Gln726Leu) | |
X | g.5893094T>C | CA412012832 | NLGN4X | c.2174A>G (p.Gln725Arg) c.2234A>G (p.Gln745Arg) n.277+9983A>G c.2177A>G (p.Gln726Arg) | |
X | g.5893094T>G | CA412012833 | NLGN4X | c.2174A>C (p.Gln725Pro) c.2234A>C (p.Gln745Pro) n.277+9983A>C c.2177A>C (p.Gln726Pro) | |
X | g.5893095G>A | CA412012834 | NLGN4X | c.2173C>T (p.Gln725Ter) c.2233C>T (p.Gln745Ter) n.277+9982C>T c.2176C>T (p.Gln726Ter) | |
X | g.5893095G>C | CA412012835 | NLGN4X | c.2173C>G (p.Gln725Glu) c.2233C>G (p.Gln745Glu) n.277+9982C>G c.2176C>G (p.Gln726Glu) | |
X | g.5893095G>T | CA412012836 | NLGN4X | c.2173C>A (p.Gln725Lys) c.2233C>A (p.Gln745Lys) n.277+9982C>A c.2176C>A (p.Gln726Lys) | |
X | g.5893096G>A | CA515368143 | NLGN4X | c.2172C>T (p.Ile724=) c.2232C>T (p.Ile744=) n.277+9981C>T c.2175C>T (p.Ile725=) | |
X | g.5893096G>C | CA412012837 | NLGN4X | c.2172C>G (p.Ile724Met) c.2232C>G (p.Ile744Met) n.277+9981C>G c.2175C>G (p.Ile725Met) | gnomAD v4 |
X | g.5893096G= | CA2413689126 | NLGN4X | c.2172C= (p.Ile724=) c.2232C= (p.Ile744=) n.277+9981C= c.2175C= (p.Ile725=) | |
X | g.5893096G>T | CA515368144 | NLGN4X | c.2172C>A (p.Ile724=) c.2232C>A (p.Ile744=) n.277+9981C>A c.2175C>A (p.Ile725=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.5893097A>C | CA412012838 | NLGN4X | c.2171T>G (p.Ile724Ser) c.2231T>G (p.Ile744Ser) n.277+9980T>G c.2174T>G (p.Ile725Ser) | |
X | g.5893097A>G | CA412012839 | NLGN4X | c.2171T>C (p.Ile724Thr) c.2231T>C (p.Ile744Thr) n.277+9980T>C c.2174T>C (p.Ile725Thr) | |
X | g.5893097A>T | CA412012840 | NLGN4X | c.2171T>A (p.Ile724Asn) c.2231T>A (p.Ile744Asn) n.277+9980T>A c.2174T>A (p.Ile725Asn) | |
X | g.5893098T>A | CA412012841 | NLGN4X | c.2170A>T (p.Ile724Phe) c.2230A>T (p.Ile744Phe) n.277+9979A>T c.2173A>T (p.Ile725Phe) | |
X | g.5893098T>C | CA412012842 | NLGN4X | c.2170A>G (p.Ile724Val) c.2230A>G (p.Ile744Val) n.277+9979A>G c.2173A>G (p.Ile725Val) | |
X | g.5893098T>G | CA412012843 | NLGN4X | c.2170A>C (p.Ile724Leu) c.2230A>C (p.Ile744Leu) n.277+9979A>C c.2173A>C (p.Ile725Leu) | |
X | g.5893099G>A | CA515368145 | NLGN4X | c.2169C>T (p.His723=) c.2229C>T (p.His743=) n.277+9978C>T c.2172C>T (p.His724=) | gnomAD v4 |
X | g.5893099G>C | CA412012844 | NLGN4X | c.2169C>G (p.His723Gln) c.2229C>G (p.His743Gln) n.277+9978C>G c.2172C>G (p.His724Gln) | |
X | g.5893099G>T | CA412012845 | NLGN4X | c.2169C>A (p.His723Gln) c.2229C>A (p.His743Gln) n.277+9978C>A c.2172C>A (p.His724Gln) | |
X | g.5893100T>A | CA412012846 | NLGN4X | c.2168A>T (p.His723Leu) c.2228A>T (p.His743Leu) n.277+9977A>T c.2171A>T (p.His724Leu) | |
X | g.5893100T>C | CA412012848 | NLGN4X | c.2168A>G (p.His723Arg) c.2228A>G (p.His743Arg) n.277+9977A>G c.2171A>G (p.His724Arg) | |
X | g.5893100T>G | CA412012847 | NLGN4X | c.2168A>C (p.His723Pro) c.2228A>C (p.His743Pro) n.277+9977A>C c.2171A>C (p.His724Pro) | |
X | g.5893101G>A | CA412012849 | NLGN4X | c.2167C>T (p.His723Tyr) c.2227C>T (p.His743Tyr) n.277+9976C>T c.2170C>T (p.His724Tyr) | gnomAD v4 |
X | g.5893101G>C | CA412012850 | NLGN4X | c.2167C>G (p.His723Asp) c.2227C>G (p.His743Asp) n.277+9976C>G c.2170C>G (p.His724Asp) | |
X | g.5893101G>T | CA412012851 | NLGN4X | c.2167C>A (p.His723Asn) c.2227C>A (p.His743Asn) n.277+9976C>A c.2170C>A (p.His724Asn) | |
X | g.5893102A= | CA2413689127 | NLGN4X | c.2166T= (p.Ala722=) c.2226T= (p.Ala742=) n.277+9975T= c.2169T= (p.Ala723=) | |
X | g.5893102A>C | CA515368146 | NLGN4X | c.2166T>G (p.Ala722=) c.2226T>G (p.Ala742=) n.277+9975T>G c.2169T>G (p.Ala723=) | |
X | g.5893102A>G | CA515368147 | NLGN4X | c.2166T>C (p.Ala722=) c.2226T>C (p.Ala742=) n.277+9975T>C c.2169T>C (p.Ala723=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.5893102A>T | CA515368148 | NLGN4X | c.2166T>A (p.Ala722=) c.2226T>A (p.Ala742=) n.277+9975T>A c.2169T>A (p.Ala723=) | |
X | g.5893103G>A | CA412012852 | NLGN4X | c.2165C>T (p.Ala722Val) c.2225C>T (p.Ala742Val) n.277+9974C>T c.2168C>T (p.Ala723Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.5893103G>C | CA412012853 | NLGN4X | c.2165C>G (p.Ala722Gly) c.2225C>G (p.Ala742Gly) n.277+9974C>G c.2168C>G (p.Ala723Gly) | |
X | g.5893103G= | CA2413689128 | NLGN4X | c.2165C= (p.Ala722=) c.2225C= (p.Ala742=) n.277+9974C= c.2168C= (p.Ala723=) | |
X | g.5893103G>T | CA412012854 | NLGN4X | c.2165C>A (p.Ala722Asp) c.2225C>A (p.Ala742Asp) n.277+9974C>A c.2168C>A (p.Ala723Asp) | |
X | g.5893104C>A | CA412012856 | NLGN4X | c.2164G>T (p.Ala722Ser) c.2224G>T (p.Ala742Ser) n.277+9973G>T c.2167G>T (p.Ala723Ser) | |
X | g.5893104C= | CA2413689129 | NLGN4X | c.2164G= (p.Ala722=) c.2224G= (p.Ala742=) n.277+9973G= c.2167G= (p.Ala723=) | |
X | g.5893104C>G | CA412012855 | NLGN4X | c.2164G>C (p.Ala722Pro) c.2224G>C (p.Ala742Pro) n.277+9973G>C c.2167G>C (p.Ala723Pro) | |
X | g.5893104C>T | CA10340922 | NLGN4X | c.2164G>A (p.Ala722Thr) c.2224G>A (p.Ala742Thr) n.277+9973G>A c.2167G>A (p.Ala723Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.5893105G>A | CA10340923 | NLGN4X | c.2163C>T (p.Ile721=) c.2223C>T (p.Ile741=) n.277+9972C>T c.2166C>T (p.Ile722=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.5893105G>C | CA412012857 | NLGN4X | c.2163C>G (p.Ile721Met) c.2223C>G (p.Ile741Met) n.277+9972C>G c.2166C>G (p.Ile722Met) | |
X | g.5893105G= | CA2413689130 | NLGN4X | c.2163C= (p.Ile721=) c.2223C= (p.Ile741=) n.277+9972C= c.2166C= (p.Ile722=) | |
X | g.5893105G>T | CA515368149 | NLGN4X | c.2163C>A (p.Ile721=) c.2223C>A (p.Ile741=) n.277+9972C>A c.2166C>A (p.Ile722=) | gnomAD v4 COSMIC |
X | g.5893106A>C | CA412012858 | NLGN4X | c.2162T>G (p.Ile721Ser) c.2222T>G (p.Ile741Ser) n.277+9971T>G c.2165T>G (p.Ile722Ser) | |
X | g.5893106A>G | CA412012859 | NLGN4X | c.2162T>C (p.Ile721Thr) c.2222T>C (p.Ile741Thr) n.277+9971T>C c.2165T>C (p.Ile722Thr) | gnomAD v4 |
X | g.5893106A>T | CA412012860 | NLGN4X | c.2162T>A (p.Ile721Asn) c.2222T>A (p.Ile741Asn) n.277+9971T>A c.2165T>A (p.Ile722Asn) | |
X | g.5893107T>A | CA412012863 | NLGN4X | c.2161A>T (p.Ile721Phe) c.2221A>T (p.Ile741Phe) n.277+9970A>T c.2164A>T (p.Ile722Phe) | |
X | g.5893107T>C | CA412012861 | NLGN4X | c.2161A>G (p.Ile721Val) c.2221A>G (p.Ile741Val) n.277+9970A>G c.2164A>G (p.Ile722Val) | gnomAD v4 |
X | g.5893107T>G | CA412012862 | NLGN4X | c.2161A>C (p.Ile721Leu) c.2221A>C (p.Ile741Leu) n.277+9970A>C c.2164A>C (p.Ile722Leu) | |
X | g.5893108A>C | CA412012864 | NLGN4X | c.2160T>G (p.Asp720Glu) c.2220T>G (p.Asp740Glu) n.277+9969T>G c.2163T>G (p.Asp721Glu) | |
X | g.5893108A>G | CA515368150 | NLGN4X | c.2160T>C (p.Asp720=) c.2220T>C (p.Asp740=) n.277+9969T>C c.2163T>C (p.Asp721=) | gnomAD v4 |
X | g.5893108A>T | CA412012865 | NLGN4X | c.2160T>A (p.Asp720Glu) c.2220T>A (p.Asp740Glu) n.277+9969T>A c.2163T>A (p.Asp721Glu) | |
X | g.5893109T>A | CA10340924 | NLGN4X | c.2159A>T (p.Asp720Val) c.2219A>T (p.Asp740Val) n.277+9968A>T c.2162A>T (p.Asp721Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.5893109T>C | CA412012866 | NLGN4X | c.2159A>G (p.Asp720Gly) c.2219A>G (p.Asp740Gly) n.277+9968A>G c.2162A>G (p.Asp721Gly) | |
X | g.5893109T>G | CA412012867 | NLGN4X | c.2159A>C (p.Asp720Ala) c.2219A>C (p.Asp740Ala) n.277+9968A>C c.2162A>C (p.Asp721Ala) | |
X | g.5893109T= | CA2413689131 | NLGN4X | c.2159A= (p.Asp720=) c.2219A= (p.Asp740=) n.277+9968A= c.2162A= (p.Asp721=) |