Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.32063148_32067182del | CA339677 | ClinVar | ||
2 | g.32063720_32066025del | CA325517 | SPAST | c.-112_446del c.-112_415+1779del | ClinVar |
2 | g.32064127_32064444del | CA2573134600 | SPAST | c.296_415+198del c.180_299+198del c.166_285+198del c.38_157+198del c.172_291+198del c.137_256+198del c.130_249+198del | ClinVar dbSNP |
2 | g.32064210_32064211dup | CA2576929940 | SPAST | c.379_380dup (p.Ile129ProfsTer?) c.263_264dup c.249_250dup c.121_122dup (p.Ile43ProfsTer?) c.255_256dup c.220_221dup (p.Ile76ProfsTer12) c.213_214dup | |
2 | g.32064211T>A | CA346602441 | SPAST | c.380T>A (p.Ile127Asn) c.264T>A c.250T>A c.122T>A (p.Ile41Asn) c.256T>A c.221T>A (p.Ile74Asn) c.1T>A c.214T>A | gnomAD v4 |
2 | g.32064211T>C | CA346602443 | SPAST | c.380T>C (p.Ile127Thr) c.264T>C c.250T>C c.122T>C (p.Ile41Thr) c.256T>C c.221T>C (p.Ile74Thr) c.1T>C c.214T>C | gnomAD v4 |
2 | g.32064211T>G | CA346602442 | SPAST | c.380T>G (p.Ile127Ser) c.264T>G c.250T>G c.122T>G (p.Ile41Ser) c.256T>G c.221T>G (p.Ile74Ser) c.1T>G c.214T>G | gnomAD v4 |
2 | g.32064212C>A | CA425627234 | SPAST | c.381C>A (p.Ile127=) c.265C>A c.251C>A c.123C>A (p.Ile41=) c.257C>A c.222C>A (p.Ile74=) c.2C>A c.215C>A | gnomAD v4 |
2 | g.32064212C= | CA1242461813 | SPAST | c.381C= (p.Ile127=) c.265C= c.251C= c.123C= (p.Ile41=) c.257C= c.222C= (p.Ile74=) c.2C= c.215C= | |
2 | g.32064212C>G | CA346602444 | SPAST | c.381C>G (p.Ile127Met) c.265C>G c.251C>G c.123C>G (p.Ile41Met) c.257C>G c.222C>G (p.Ile74Met) c.2C>G c.215C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064212C>T | CA425627235 | SPAST | c.381C>T (p.Ile127=) c.265C>T c.251C>T c.123C>T (p.Ile41=) c.257C>T c.222C>T (p.Ile74=) c.2C>T c.215C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064213del | CA2586968952 | SPAST | c.382del (p.Ser128ProfsTer?) c.266del c.252del c.124del (p.Ser42ProfsTer?) c.258del c.223del (p.Ser75ProfsTer12) c.3del c.216del | |
2 | g.32064213T>A | CA346602445 | SPAST | c.382T>A (p.Ser128Thr) c.266T>A c.252T>A c.124T>A (p.Ser42Thr) c.258T>A c.223T>A (p.Ser75Thr) c.3T>A c.216T>A | gnomAD v4 |
2 | g.32064213T>C | CA346602446 | SPAST | c.382T>C (p.Ser128Pro) c.266T>C c.252T>C c.124T>C (p.Ser42Pro) c.258T>C c.223T>C (p.Ser75Pro) c.3T>C c.216T>C | gnomAD v4 |
2 | g.32064213T>G | CA346602447 | SPAST | c.382T>G (p.Ser128Ala) c.266T>G c.252T>G c.124T>G (p.Ser42Ala) c.258T>G c.223T>G (p.Ser75Ala) c.3T>G c.216T>G | dbSNP gnomAD v4 |
2 | g.32064213T= | CA1242461814 | SPAST | c.382T= (p.Ser128=) c.266T= c.252T= c.124T= (p.Ser42=) c.258T= c.223T= (p.Ser75=) c.3T= c.216T= | |
2 | g.32064214C>A | CA346602448 | SPAST | c.383C>A (p.Ser128Tyr) c.267C>A c.253C>A c.125C>A (p.Ser42Tyr) c.259C>A c.224C>A (p.Ser75Tyr) c.4C>A c.217C>A | gnomAD v4 |
2 | g.32064214C>G | CA346602449 | SPAST | c.383C>G (p.Ser128Cys) c.267C>G c.253C>G c.125C>G (p.Ser42Cys) c.259C>G c.224C>G (p.Ser75Cys) c.4C>G c.217C>G | gnomAD v4 |
2 | g.32064214C>T | CA346602450 | SPAST | c.383C>T (p.Ser128Phe) c.267C>T c.253C>T c.125C>T (p.Ser42Phe) c.259C>T c.224C>T (p.Ser75Phe) c.4C>T c.217C>T | gnomAD v4 |
2 | g.32064215C>A | CA425627240 | SPAST | c.384C>A (p.Ser128=) c.268C>A c.254C>A c.126C>A (p.Ser42=) c.260C>A c.225C>A (p.Ser75=) c.5C>A c.218C>A | gnomAD v4 |
2 | g.32064215C= | CA1242461815 | SPAST | c.384C= (p.Ser128=) c.268C= c.254C= c.126C= (p.Ser42=) c.260C= c.225C= (p.Ser75=) c.5C= c.218C= | |
2 | g.32064215C>G | CA425627241 | SPAST | c.384C>G (p.Ser128=) c.268C>G c.254C>G c.126C>G (p.Ser42=) c.260C>G c.225C>G (p.Ser75=) c.5C>G c.218C>G | gnomAD v4 |
2 | g.32064215C>T | CA425627242 | SPAST | c.384C>T (p.Ser128=) c.268C>T c.254C>T c.126C>T (p.Ser42=) c.260C>T c.225C>T (p.Ser75=) c.5C>T c.218C>T | dbSNP gnomAD v4 |
2 | g.32064216A= | CA1242461816 | SPAST | c.385A= (p.Ile129=) c.269A= c.255A= c.127A= (p.Ile43=) c.261A= c.226A= (p.Ile76=) c.6A= c.219A= | |
2 | g.32064216A>C | CA346602451 | SPAST | c.385A>C (p.Ile129Leu) c.269A>C c.255A>C c.127A>C (p.Ile43Leu) c.261A>C c.226A>C (p.Ile76Leu) c.6A>C c.219A>C | gnomAD v4 |
2 | g.32064216A>G | CA346602452 | SPAST | c.385A>G (p.Ile129Val) c.269A>G c.255A>G c.127A>G (p.Ile43Val) c.261A>G c.226A>G (p.Ile76Val) c.6A>G c.219A>G | ClinVar dbSNP gnomAD v4 |
2 | g.32064216A>T | CA346602453 | SPAST | c.385A>T (p.Ile129Phe) c.269A>T c.255A>T c.127A>T (p.Ile43Phe) c.261A>T c.226A>T (p.Ile76Phe) c.6A>T c.219A>T | gnomAD v4 COSMIC |
2 | g.32064217T>A | CA346602454 | SPAST | c.386T>A (p.Ile129Asn) c.270T>A c.256T>A c.128T>A (p.Ile43Asn) c.262T>A c.227T>A (p.Ile76Asn) c.7T>A c.220T>A | |
2 | g.32064217T>C | CA346602456 | SPAST | c.386T>C (p.Ile129Thr) c.270T>C c.256T>C c.128T>C (p.Ile43Thr) c.262T>C c.227T>C (p.Ile76Thr) c.7T>C c.220T>C | gnomAD v4 |
2 | g.32064217T>G | CA346602455 | SPAST | c.386T>G (p.Ile129Ser) c.270T>G c.256T>G c.128T>G (p.Ile43Ser) c.262T>G c.227T>G (p.Ile76Ser) c.7T>G c.220T>G | |
2 | g.32064217_32064222delinsTTGCCC | CA1242461817 | SPAST | c.386_391delinsTTGCCC (p.Ile129=) c.270_275delinsTTGCCC c.256_261delinsTTGCCC c.128_133delinsTTGCCC (p.Ile43=) c.262_267delinsTTGCCC c.227_232delinsTTGCCC (p.Ile76=) c.7_12delinsTTGCCC c.220_225delinsTTGCCC | |
2 | g.32064218T>A | CA425627257 | SPAST | c.387T>A (p.Ile129=) c.271T>A c.257T>A c.129T>A (p.Ile43=) c.263T>A c.228T>A (p.Ile76=) c.8T>A c.221T>A | gnomAD v4 |
2 | g.32064218T>C | CA425627261 | SPAST | c.387T>C (p.Ile129=) c.271T>C c.257T>C c.129T>C (p.Ile43=) c.263T>C c.228T>C (p.Ile76=) c.8T>C c.221T>C | gnomAD v4 |
2 | g.32064218T>G | CA346602457 | SPAST | c.387T>G (p.Ile129Met) c.271T>G c.257T>G c.129T>G (p.Ile43Met) c.263T>G c.228T>G (p.Ile76Met) c.8T>G c.221T>G | |
2 | g.32064221_32064225del | CA916504285 | SPAST | c.390_394del (p.Leu131HisfsTer3) c.274_278del c.260_264del c.132_136del (p.Leu45HisfsTer3) c.266_270del c.231_235del (p.Leu78HisfsTer3) c.11_15del c.224_228del | dbSNP |
2 | g.32064219G>A | CA346602458 | SPAST | c.388G>A (p.Ala130Thr) c.272G>A c.258G>A c.130G>A (p.Ala44Thr) c.264G>A c.229G>A (p.Ala77Thr) c.9G>A c.222G>A | gnomAD v4 |
2 | g.32064219G>C | CA346602459 | SPAST | c.388G>C (p.Ala130Pro) c.272G>C c.258G>C c.130G>C (p.Ala44Pro) c.264G>C c.229G>C (p.Ala77Pro) c.9G>C c.222G>C | gnomAD v4 |
2 | g.32064219G>T | CA346602460 | SPAST | c.388G>T (p.Ala130Ser) c.272G>T c.258G>T c.130G>T (p.Ala44Ser) c.264G>T c.229G>T (p.Ala77Ser) c.9G>T c.222G>T | gnomAD v4 |
2 | g.32064220C>A | CA346602461 | SPAST | c.389C>A (p.Ala130Asp) c.273C>A c.259C>A c.131C>A (p.Ala44Asp) c.265C>A c.230C>A (p.Ala77Asp) c.10C>A c.223C>A | gnomAD v4 |
2 | g.32064220C= | CA1242461819 | SPAST | c.389C= (p.Ala130=) c.273C= c.259C= c.131C= (p.Ala44=) c.265C= c.230C= (p.Ala77=) c.10C= c.223C= | |
2 | g.32064220C>G | CA346602462 | SPAST | c.389C>G (p.Ala130Gly) c.273C>G c.259C>G c.131C>G (p.Ala44Gly) c.265C>G c.230C>G (p.Ala77Gly) c.10C>G c.223C>G | gnomAD v4 |
2 | g.32064220C>T | CA346602463 | SPAST | c.389C>T (p.Ala130Val) c.273C>T c.259C>T c.131C>T (p.Ala44Val) c.265C>T c.230C>T (p.Ala77Val) c.10C>T c.223C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064220_32064222delinsCCC | CA1242461818 | SPAST | c.389_391delinsCCC (p.Ala130=) c.273_275delinsCCC c.259_261delinsCCC c.131_133delinsCCC (p.Ala44=) c.265_267delinsCCC c.230_232delinsCCC (p.Ala77=) c.10_12delinsCCC c.223_225delinsCCC | |
2 | g.32064221_32064222del | CA2573051928 | SPAST | c.390_391del (p.Leu131AlafsTer4) c.274_275del c.260_261del c.132_133del (p.Leu45AlafsTer4) c.266_267del c.231_232del (p.Leu78AlafsTer4) c.11_12del c.224_225del | ClinVar dbSNP |
2 | g.32064221C>A | CA425627280 | SPAST | c.390C>A (p.Ala130=) c.274C>A c.260C>A c.132C>A (p.Ala44=) c.266C>A c.231C>A (p.Ala77=) c.11C>A c.224C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064221C= | CA1242461820 | SPAST | c.390C= (p.Ala130=) c.274C= c.260C= c.132C= (p.Ala44=) c.266C= c.231C= (p.Ala77=) c.11C= c.224C= | |
2 | g.32064221C>G | CA425627282 | SPAST | c.390C>G (p.Ala130=) c.274C>G c.260C>G c.132C>G (p.Ala44=) c.266C>G c.231C>G (p.Ala77=) c.11C>G c.224C>G | ClinVar gnomAD v4 |
2 | g.32064221C>T | CA425627281 | SPAST | c.390C>T (p.Ala130=) c.274C>T c.260C>T c.132C>T (p.Ala44=) c.266C>T c.231C>T (p.Ala77=) c.11C>T c.224C>T | gnomAD v4 |
2 | g.32064221_32064222delinsGGT | CA16610759 | SPAST | c.390_391delinsGGT (p.Leu131ValfsTer5) c.274_275delinsGGT c.260_261delinsGGT c.132_133delinsGGT (p.Leu45ValfsTer5) c.266_267delinsGGT c.231_232delinsGGT (p.Leu78ValfsTer5) c.11_12delinsGGT c.224_225delinsGGT | ClinVar dbSNP |
2 | g.32064222C>A | CA346602464 | SPAST | c.391C>A (p.Leu131Met) c.275C>A c.261C>A c.133C>A (p.Leu45Met) c.267C>A c.232C>A (p.Leu78Met) c.12C>A c.225C>A | gnomAD v4 |
2 | g.32064222C= | CA1242461821 | SPAST | c.391C= (p.Leu131=) c.275C= c.261C= c.133C= (p.Leu45=) c.267C= c.232C= (p.Leu78=) c.12C= c.225C= | |
2 | g.32064222C>G | CA346602465 | SPAST | c.391C>G (p.Leu131Val) c.275C>G c.261C>G c.133C>G (p.Leu45Val) c.267C>G c.232C>G (p.Leu78Val) c.12C>G c.225C>G | |
2 | g.32064222C>T | CA425627284 | SPAST | c.391C>T (p.Leu131=) c.275C>T c.261C>T c.133C>T (p.Leu45=) c.267C>T c.232C>T (p.Leu78=) c.12C>T c.225C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064222_32064223insGGT | CA2573051929 | SPAST | c.391_392insGGT (p.Ala130_Leu131insArg) c.275_276insGGT c.261_262insGGT c.133_134insGGT (p.Ala44_Leu45insArg) c.267_268insGGT c.232_233insGGT (p.Ala77_Leu78insArg) c.12_13insGGT c.225_226insGGT | ClinVar dbSNP |
2 | g.32064223T>A | CA346602466 | SPAST | c.392T>A (p.Leu131Gln) c.276T>A c.262T>A c.134T>A (p.Leu45Gln) c.268T>A c.233T>A (p.Leu78Gln) c.13T>A c.226T>A | |
2 | g.32064223T>C | CA346602467 | SPAST | c.392T>C (p.Leu131Pro) c.276T>C c.262T>C c.134T>C (p.Leu45Pro) c.268T>C c.233T>C (p.Leu78Pro) c.13T>C c.226T>C | gnomAD v4 |
2 | g.32064223T>G | CA346602468 | SPAST | c.392T>G (p.Leu131Arg) c.276T>G c.262T>G c.134T>G (p.Leu45Arg) c.268T>G c.233T>G (p.Leu78Arg) c.13T>G c.226T>G | |
2 | g.32064224G>A | CA425627304 | SPAST | c.393G>A (p.Leu131=) c.277G>A c.263G>A c.135G>A (p.Leu45=) c.269G>A c.234G>A (p.Leu78=) c.14G>A c.227G>A | gnomAD v4 |
2 | g.32064224G>C | CA425627305 | SPAST | c.393G>C (p.Leu131=) c.277G>C c.263G>C c.135G>C (p.Leu45=) c.269G>C c.234G>C (p.Leu78=) c.14G>C c.227G>C | |
2 | g.32064224G>T | CA425627306 | SPAST | c.393G>T (p.Leu131=) c.277G>T c.263G>T c.135G>T (p.Leu45=) c.269G>T c.234G>T (p.Leu78=) c.14G>T c.227G>T | gnomAD v4 |
2 | g.32064225C>A | CA346602469 | SPAST | c.394C>A (p.Arg132Ser) c.278C>A c.264C>A c.136C>A (p.Arg46Ser) c.270C>A c.235C>A (p.Arg79Ser) c.15C>A c.228C>A | gnomAD v4 |
2 | g.32064225C>G | CA346602471 | SPAST | c.394C>G (p.Arg132Gly) c.278C>G c.264C>G c.136C>G (p.Arg46Gly) c.270C>G c.235C>G (p.Arg79Gly) c.15C>G c.228C>G | |
2 | g.32064225C>T | CA346602470 | SPAST | c.394C>T (p.Arg132Cys) c.278C>T c.264C>T c.136C>T (p.Arg46Cys) c.270C>T c.235C>T (p.Arg79Cys) c.15C>T c.228C>T | gnomAD v4 |
2 | g.32064226G>A | CA346602472 | SPAST | c.395G>A (p.Arg132His) c.279G>A c.265G>A c.137G>A (p.Arg46His) c.271G>A c.236G>A (p.Arg79His) c.16G>A c.229G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064226G>C | CA346602473 | SPAST | c.395G>C (p.Arg132Pro) c.279G>C c.265G>C c.137G>C (p.Arg46Pro) c.271G>C c.236G>C (p.Arg79Pro) c.16G>C c.229G>C | |
2 | g.32064226G= | CA1242461822 | SPAST | c.395G= (p.Arg132=) c.279G= c.265G= c.137G= (p.Arg46=) c.271G= c.236G= (p.Arg79=) c.16G= c.229G= | |
2 | g.32064226G>T | CA346602474 | SPAST | c.395G>T (p.Arg132Leu) c.279G>T c.265G>T c.137G>T (p.Arg46Leu) c.271G>T c.236G>T (p.Arg79Leu) c.16G>T c.229G>T | gnomAD v4 |
2 | g.32064227C>A | CA425627336 | SPAST | c.396C>A (p.Arg132=) c.280C>A c.266C>A c.138C>A (p.Arg46=) c.272C>A c.237C>A (p.Arg79=) c.17C>A c.230C>A | gnomAD v4 |
2 | g.32064227C>G | CA425627343 | SPAST | c.396C>G (p.Arg132=) c.280C>G c.266C>G c.138C>G (p.Arg46=) c.272C>G c.237C>G (p.Arg79=) c.17C>G c.230C>G | |
2 | g.32064227C>T | CA425627341 | SPAST | c.396C>T (p.Arg132=) c.280C>T c.266C>T c.138C>T (p.Arg46=) c.272C>T c.237C>T (p.Arg79=) c.17C>T c.230C>T | gnomAD v4 |
2 | g.32064228A= | CA1242461823 | SPAST | c.397A= (p.Ile133=) c.281A= c.267A= c.139A= (p.Ile47=) c.273A= c.238A= (p.Ile80=) c.18A= c.231A= | |
2 | g.32064228A>C | CA346602475 | SPAST | c.397A>C (p.Ile133Leu) c.281A>C c.267A>C c.139A>C (p.Ile47Leu) c.273A>C c.238A>C (p.Ile80Leu) c.18A>C c.231A>C | |
2 | g.32064228A>G | CA346602476 | SPAST | c.397A>G (p.Ile133Val) c.281A>G c.267A>G c.139A>G (p.Ile47Val) c.273A>G c.238A>G (p.Ile80Val) c.18A>G c.231A>G | ClinVar dbSNP gnomAD v4 |
2 | g.32064228A>T | CA346602477 | SPAST | c.397A>T (p.Ile133Phe) c.281A>T c.267A>T c.139A>T (p.Ile47Phe) c.273A>T c.238A>T (p.Ile80Phe) c.18A>T c.231A>T | gnomAD v4 |
2 | g.32064229T>A | CA346602478 | SPAST | c.398T>A (p.Ile133Asn) c.282T>A c.268T>A c.140T>A (p.Ile47Asn) c.274T>A c.239T>A (p.Ile80Asn) c.19T>A c.232T>A | |
2 | g.32064229T>C | CA346602479 | SPAST | c.398T>C (p.Ile133Thr) c.282T>C c.268T>C c.140T>C (p.Ile47Thr) c.274T>C c.239T>C (p.Ile80Thr) c.19T>C c.232T>C | dbSNP |
2 | g.32064229T>G | CA346602480 | SPAST | c.398T>G (p.Ile133Ser) c.282T>G c.268T>G c.140T>G (p.Ile47Ser) c.274T>G c.239T>G (p.Ile80Ser) c.19T>G c.232T>G | |
2 | g.32064229T= | CA1242461824 | SPAST | c.398T= (p.Ile133=) c.282T= c.268T= c.140T= (p.Ile47=) c.274T= c.239T= (p.Ile80=) c.19T= c.232T= | |
2 | g.32064230C>A | CA425627356 | SPAST | c.399C>A (p.Ile133=) c.283C>A c.269C>A c.141C>A (p.Ile47=) c.275C>A c.240C>A (p.Ile80=) c.20C>A c.233C>A | gnomAD v4 |
2 | g.32064230C= | CA1242461825 | SPAST | c.399C= (p.Ile133=) c.283C= c.269C= c.141C= (p.Ile47=) c.275C= c.240C= (p.Ile80=) c.20C= c.233C= | |
2 | g.32064230C>G | CA346602481 | SPAST | c.399C>G (p.Ile133Met) c.283C>G c.269C>G c.141C>G (p.Ile47Met) c.275C>G c.240C>G (p.Ile80Met) c.20C>G c.233C>G | |
2 | g.32064230C>T | CA425627361 | SPAST | c.399C>T (p.Ile133=) c.283C>T c.269C>T c.141C>T (p.Ile47=) c.275C>T c.240C>T (p.Ile80=) c.20C>T c.233C>T | dbSNP gnomAD v4 |
2 | g.32064231G>A | CA346602483 | SPAST | c.400G>A (p.Asp134Asn) c.284G>A c.270G>A c.142G>A (p.Asp48Asn) c.276G>A c.241G>A (p.Asp81Asn) c.21G>A c.234G>A | gnomAD v4 |
2 | g.32064231G>C | CA346602484 | SPAST | c.400G>C (p.Asp134His) c.284G>C c.270G>C c.142G>C (p.Asp48His) c.276G>C c.241G>C (p.Asp81His) c.21G>C c.234G>C | dbSNP |
2 | g.32064231G= | CA1242461826 | SPAST | c.400G= (p.Asp134=) c.284G= c.270G= c.142G= (p.Asp48=) c.276G= c.241G= (p.Asp81=) c.21G= c.234G= | |
2 | g.32064231G>T | CA346602482 | SPAST | c.400G>T (p.Asp134Tyr) c.284G>T c.270G>T c.142G>T (p.Asp48Tyr) c.276G>T c.241G>T (p.Asp81Tyr) c.21G>T c.234G>T | gnomAD v4 |
2 | g.32064232A>C | CA346602485 | SPAST | c.401A>C (p.Asp134Ala) c.285A>C c.271A>C c.143A>C (p.Asp48Ala) c.277A>C c.242A>C (p.Asp81Ala) c.22A>C c.235A>C | |
2 | g.32064232A>G | CA346602486 | SPAST | c.401A>G (p.Asp134Gly) c.285A>G c.271A>G c.143A>G (p.Asp48Gly) c.277A>G c.242A>G (p.Asp81Gly) c.22A>G c.235A>G | gnomAD v4 |
2 | g.32064232A>T | CA346602487 | SPAST | c.401A>T (p.Asp134Val) c.285A>T c.271A>T c.143A>T (p.Asp48Val) c.277A>T c.242A>T (p.Asp81Val) c.22A>T c.235A>T | gnomAD v4 |
2 | g.32064233T>A | CA346602488 | SPAST | c.402T>A (p.Asp134Glu) c.286T>A c.272T>A c.144T>A (p.Asp48Glu) c.278T>A c.243T>A (p.Asp81Glu) c.23T>A c.236T>A | gnomAD v4 |
2 | g.32064233T>C | CA425627372 | SPAST | c.402T>C (p.Asp134=) c.286T>C c.272T>C c.144T>C (p.Asp48=) c.278T>C c.243T>C (p.Asp81=) c.23T>C c.236T>C | ClinVar gnomAD v4 |
2 | g.32064233T>G | CA346602489 | SPAST | c.402T>G (p.Asp134Glu) c.286T>G c.272T>G c.144T>G (p.Asp48Glu) c.278T>G c.243T>G (p.Asp81Glu) c.23T>G c.236T>G | gnomAD v3 gnomAD v4 |
2 | g.32064234G>A | CA346602492 | SPAST | c.403G>A (p.Glu135Lys) c.287G>A c.273G>A c.145G>A (p.Glu49Lys) c.279G>A c.244G>A (p.Glu82Lys) c.24G>A c.237G>A | gnomAD v4 |
2 | g.32064234G>C | CA346602490 | SPAST | c.403G>C (p.Glu135Gln) c.287G>C c.273G>C c.145G>C (p.Glu49Gln) c.279G>C c.244G>C (p.Glu82Gln) c.24G>C c.237G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064234G= | CA1242461827 | SPAST | c.403G= (p.Glu135=) c.287G= c.273G= c.145G= (p.Glu49=) c.279G= c.244G= (p.Glu82=) c.24G= c.237G= | |
2 | g.32064234G>T | CA346602491 | SPAST | c.403G>T (p.Glu135Ter) c.287G>T c.273G>T c.145G>T (p.Glu49Ter) c.279G>T c.244G>T (p.Glu82Ter) c.24G>T c.237G>T | dbSNP gnomAD v4 |
2 | g.32064235A= | CA1242461828 | SPAST | c.404A= (p.Glu135=) c.288A= c.274A= c.146A= (p.Glu49=) c.280A= c.245A= (p.Glu82=) c.25A= c.238A= | |
2 | g.32064235A>C | CA346602493 | SPAST | c.404A>C (p.Glu135Ala) c.288A>C c.274A>C c.146A>C (p.Glu49Ala) c.280A>C c.245A>C (p.Glu82Ala) c.25A>C c.238A>C | gnomAD v4 |
2 | g.32064235A>G | CA346602494 | SPAST | c.404A>G (p.Glu135Gly) c.288A>G c.274A>G c.146A>G (p.Glu49Gly) c.280A>G c.245A>G (p.Glu82Gly) c.25A>G c.238A>G | gnomAD v4 |
2 | g.32064235A>T | CA346602495 | SPAST | c.404A>T (p.Glu135Val) c.288A>T c.274A>T c.146A>T (p.Glu49Val) c.280A>T c.245A>T (p.Glu82Val) c.25A>T c.238A>T | gnomAD v4 |
2 | g.32064236G>A | CA425627393 | SPAST | c.405G>A (p.Glu135=) c.289G>A c.275G>A c.147G>A (p.Glu49=) c.281G>A c.246G>A (p.Glu82=) c.26G>A c.239G>A | gnomAD v4 |
2 | g.32064236G>C | CA45201413 | SPAST | c.405G>C (p.Glu135Asp) c.289G>C c.275G>C c.147G>C (p.Glu49Asp) c.281G>C c.246G>C (p.Glu82Asp) c.26G>C c.239G>C | dbSNP gnomAD v4 |
2 | g.32064236G= | CA1242461829 | SPAST | c.405G= (p.Glu135=) c.289G= c.275G= c.147G= (p.Glu49=) c.281G= c.246G= (p.Glu82=) c.26G= c.239G= | |
2 | g.32064236G>T | CA346602496 | SPAST | c.405G>T (p.Glu135Asp) c.289G>T c.275G>T c.147G>T (p.Glu49Asp) c.281G>T c.246G>T (p.Glu82Asp) c.26G>T c.239G>T | gnomAD v4 |
2 | g.32064236_32064240dup | CA1139656845 | SPAST | c.405_409dup (p.Glu137GlyfsTer?) c.405_409dup (p.Glu137GlyfsTer26) c.405_409dup (p.Glu137GlyfsTer25) c.289_293dup c.275_279dup c.147_151dup (p.Glu51GlyfsTer26) c.281_285dup c.246_250dup (p.Glu84GlyfsTer5) c.26_30dup c.239_243dup | ClinVar dbSNP |
2 | g.32064237G>A | CA346602499 | SPAST | c.406G>A (p.Asp136Asn) c.290G>A c.276G>A c.148G>A (p.Asp50Asn) c.282G>A c.247G>A (p.Asp83Asn) c.27G>A c.240G>A | gnomAD v4 |
2 | g.32064237G>C | CA346602497 | SPAST | c.406G>C (p.Asp136His) c.290G>C c.276G>C c.148G>C (p.Asp50His) c.282G>C c.247G>C (p.Asp83His) c.27G>C c.240G>C | |
2 | g.32064237G>T | CA346602498 | SPAST | c.406G>T (p.Asp136Tyr) c.290G>T c.276G>T c.148G>T (p.Asp50Tyr) c.282G>T c.247G>T (p.Asp83Tyr) c.27G>T c.240G>T | gnomAD v4 |
2 | g.32064238A>C | CA346602500 | SPAST | c.407A>C (p.Asp136Ala) c.291A>C c.277A>C c.149A>C (p.Asp50Ala) c.283A>C c.248A>C (p.Asp83Ala) c.28A>C c.241A>C | |
2 | g.32064238A>G | CA346602501 | SPAST | c.407A>G (p.Asp136Gly) c.291A>G c.277A>G c.149A>G (p.Asp50Gly) c.283A>G c.248A>G (p.Asp83Gly) c.28A>G c.241A>G | gnomAD v4 |
2 | g.32064238A>T | CA346602502 | SPAST | c.407A>T (p.Asp136Val) c.291A>T c.277A>T c.149A>T (p.Asp50Val) c.283A>T c.248A>T (p.Asp83Val) c.28A>T c.241A>T | gnomAD v4 |
2 | g.32064239T>A | CA346602503 | SPAST | c.408T>A (p.Asp136Glu) c.292T>A c.278T>A c.150T>A (p.Asp50Glu) c.284T>A c.249T>A (p.Asp83Glu) c.29T>A c.242T>A | gnomAD v4 |
2 | g.32064239T>C | CA425627400 | SPAST | c.408T>C (p.Asp136=) c.292T>C c.278T>C c.150T>C (p.Asp50=) c.284T>C c.249T>C (p.Asp83=) c.29T>C c.242T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064239T>G | CA346602504 | SPAST | c.408T>G (p.Asp136Glu) c.292T>G c.278T>G c.150T>G (p.Asp50Glu) c.284T>G c.249T>G (p.Asp83Glu) c.29T>G c.242T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064239T= | CA1242461830 | SPAST | c.408T= (p.Asp136=) c.292T= c.278T= c.150T= (p.Asp50=) c.284T= c.249T= (p.Asp83=) c.29T= c.242T= | |
2 | g.32064240G>A | CA346602505 | SPAST | c.409G>A (p.Glu137Lys) c.293G>A c.279G>A c.151G>A (p.Glu51Lys) c.285G>A c.250G>A (p.Glu84Lys) c.30G>A c.243G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064240G>C | CA346602506 | SPAST | c.409G>C (p.Glu137Gln) c.293G>C c.279G>C c.151G>C (p.Glu51Gln) c.285G>C c.250G>C (p.Glu84Gln) c.30G>C c.243G>C | gnomAD v4 |
2 | g.32064240G= | CA1242461832 | SPAST | c.409G= (p.Glu137=) c.293G= c.279G= c.151G= (p.Glu51=) c.285G= c.250G= (p.Glu84=) c.30G= c.243G= | |
2 | g.32064240G>T | CA346602507 | SPAST | c.409G>T (p.Glu137Ter) c.293G>T c.279G>T c.151G>T (p.Glu51Ter) c.285G>T c.250G>T (p.Glu84Ter) c.30G>T c.243G>T | gnomAD v4 |
2 | g.32064240_32064241delinsGA | CA1242461831 | SPAST | c.409_410delinsGA (p.Glu137=) c.293_294delinsGA c.279_280delinsGA c.151_152delinsGA (p.Glu51=) c.285_286delinsGA c.250_251delinsGA (p.Glu84=) c.30_31delinsGA c.243_244delinsGA | |
2 | g.32064242_32064243dup | CA2697547980 | SPAST | c.411_412dup (p.Lys138ArgfsTer?) c.411_412dup (p.Lys138ArgfsTer24) c.411_412dup (p.Lys138ArgfsTer23) c.295_296dup c.281_282dup c.153_154dup (p.Lys52ArgfsTer24) c.287_288dup c.252_253dup (p.Lys85ArgfsTer3) c.32_33dup c.245_246dup | ClinVar |
2 | g.32064241del | CA16610746 | SPAST | c.410del (p.Glu137GlyfsTer?) c.410del (p.Glu137GlyfsTer24) c.410del (p.Glu137GlyfsTer23) c.294del c.280del c.152del (p.Glu51GlyfsTer24) c.286del c.251del (p.Glu84GlyfsTer3) c.31del c.244del | ClinVar dbSNP |
2 | g.32064241A>C | CA346602508 | SPAST | c.410A>C (p.Glu137Ala) c.294A>C c.280A>C c.152A>C (p.Glu51Ala) c.286A>C c.251A>C (p.Glu84Ala) c.31A>C c.244A>C | |
2 | g.32064241A>G | CA346602509 | SPAST | c.410A>G (p.Glu137Gly) c.294A>G c.280A>G c.152A>G (p.Glu51Gly) c.286A>G c.251A>G (p.Glu84Gly) c.31A>G c.244A>G | gnomAD v4 |
2 | g.32064241A>T | CA346602510 | SPAST | c.410A>T (p.Glu137Val) c.294A>T c.280A>T c.152A>T (p.Glu51Val) c.286A>T c.251A>T (p.Glu84Val) c.31A>T c.244A>T | gnomAD v4 |
2 | g.32064242G>A | CA425627413 | SPAST | c.411G>A (p.Glu137=) c.295G>A c.281G>A c.153G>A (p.Glu51=) c.287G>A c.252G>A (p.Glu84=) c.32G>A c.245G>A | |
2 | g.32064242G>C | CA346602511 | SPAST | c.411G>C (p.Glu137Asp) c.295G>C c.281G>C c.153G>C (p.Glu51Asp) c.287G>C c.252G>C (p.Glu84Asp) c.32G>C c.245G>C | gnomAD v4 |
2 | g.32064242G>T | CA346602512 | SPAST | c.411G>T (p.Glu137Asp) c.295G>T c.281G>T c.153G>T (p.Glu51Asp) c.287G>T c.252G>T (p.Glu84Asp) c.32G>T c.245G>T | gnomAD v4 |
2 | g.32064243A= | CA1242461833 | SPAST | c.412A= (p.Lys138=) c.296A= c.282A= c.154A= (p.Lys52=) c.288A= c.253A= (p.Lys85=) c.33A= c.246A= | |
2 | g.32064243A>C | CA346602513 | SPAST | c.412A>C (p.Lys138Gln) c.296A>C c.282A>C c.154A>C (p.Lys52Gln) c.288A>C c.253A>C (p.Lys85Gln) c.33A>C c.246A>C | |
2 | g.32064243A>G | CA346602515 | SPAST | c.412A>G (p.Lys138Glu) c.296A>G c.282A>G c.154A>G (p.Lys52Glu) c.288A>G c.253A>G (p.Lys85Glu) c.33A>G c.246A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064243A>T | CA346602514 | SPAST | c.412A>T (p.Lys138Ter) c.296A>T c.282A>T c.154A>T (p.Lys52Ter) c.288A>T c.253A>T (p.Lys85Ter) c.33A>T c.246A>T | dbSNP |
2 | g.32064245del | CA2658519903 | SPAST | c.414del (p.Asp139MetfsTer?) c.414del (p.Ala139GlnfsTer22) c.414del (p.Gly139AspfsTer21) c.298del c.284del c.156del (p.Ala53GlnfsTer22) c.290del c.255del (p.Val86Ter) c.35del c.248del | gnomAD v4 |
2 | g.32064244A>C | CA346602516 | SPAST | c.413A>C (p.Lys138Thr) c.297A>C c.283A>C c.155A>C (p.Lys52Thr) c.289A>C c.254A>C (p.Lys85Thr) c.34A>C c.247A>C | |
2 | g.32064244A>G | CA346602517 | SPAST | c.413A>G (p.Lys138Arg) c.297A>G c.283A>G c.155A>G (p.Lys52Arg) c.289A>G c.254A>G (p.Lys85Arg) c.34A>G c.247A>G | |
2 | g.32064244A>T | CA346602518 | SPAST | c.413A>T (p.Lys138Ile) c.297A>T c.283A>T c.155A>T (p.Lys52Ile) c.289A>T c.254A>T (p.Lys85Ile) c.34A>T c.247A>T | gnomAD v4 |
2 | g.32064245A>C | CA346602519 | SPAST | c.414A>C (p.Lys138Asn) c.298A>C c.284A>C c.156A>C (p.Lys52Asn) c.290A>C c.255A>C (p.Lys85Asn) c.35A>C c.248A>C | gnomAD v4 |
2 | g.32064245A>G | CA425627442 | SPAST | c.414A>G (p.Lys138=) c.298A>G c.284A>G c.156A>G (p.Lys52=) c.290A>G c.255A>G (p.Lys85=) c.35A>G c.248A>G | gnomAD v3 gnomAD v4 |
2 | g.32064245A>T | CA346602520 | SPAST | c.414A>T (p.Lys138Asn) c.298A>T c.284A>T c.156A>T (p.Lys52Asn) c.290A>T c.255A>T (p.Lys85Asn) c.35A>T c.248A>T | gnomAD v4 |
2 | g.32064246G>A | CA45201414 | SPAST | c.415G>A (p.Asp139Asn) c.415G>A (p.Ala139Thr) c.415G>A (p.Gly139Arg) c.299G>A c.285G>A c.157G>A (p.Ala53Thr) c.291G>A c.256G>A (p.Val86Ile) c.36G>A c.249G>A | dbSNP gnomAD v4 |
2 | g.32064246G>C | CA346602521 | SPAST | c.415G>C (p.Asp139His) c.415G>C (p.Ala139Pro) c.415G>C (p.Gly139Arg) c.299G>C c.285G>C c.157G>C (p.Ala53Pro) c.291G>C c.256G>C (p.Val86Leu) c.36G>C c.249G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064246G= | CA1242461834 | SPAST | c.415G= (p.Asp139=) c.415G= (p.Ala139=) c.415G= (p.Gly139=) c.299G= c.285G= c.157G= (p.Ala53=) c.291G= c.256G= (p.Val86=) c.36G= c.249G= | |
2 | g.32064246G>T | CA346602522 | SPAST | c.415G>T (p.Asp139Tyr) c.415G>T (p.Ala139Ser) c.415G>T (p.Gly139Ter) c.299G>T c.285G>T c.157G>T (p.Ala53Ser) c.291G>T c.256G>T (p.Val86Leu) c.36G>T c.249G>T | gnomAD v4 |
2 | g.32064247G>A | CA346602523 | SPAST | c.415+1G>A (n.415+1G>A) c.299+1G>A c.285+1G>A c.157+1G>A (n.157+1G>A) c.291+1G>A c.256+1G>A (n.256+1G>A) c.36+1G>A c.249+1G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064247G>C | CA346602524 | SPAST | c.415+1G>C (n.415+1G>C) c.299+1G>C c.285+1G>C c.157+1G>C (n.157+1G>C) c.291+1G>C c.256+1G>C (n.256+1G>C) c.36+1G>C c.249+1G>C | ClinVar |
2 | g.32064247G= | CA1242461835 | SPAST | c.415+1G= (n.415+1G=) c.299+1G= c.285+1G= c.157+1G= (n.157+1G=) c.291+1G= c.256+1G= (n.256+1G=) c.36+1G= c.249+1G= | |
2 | g.32064247G>T | CA16604220 | SPAST | c.415+1G>T (n.415+1G>T) c.299+1G>T c.285+1G>T c.157+1G>T (n.157+1G>T) c.291+1G>T c.256+1G>T (n.256+1G>T) c.36+1G>T c.249+1G>T | ClinVar dbSNP gnomAD v4 |
2 | g.32064248T>A | CA346602525 | SPAST | c.415+2T>A (n.415+2T>A) c.299+2T>A c.285+2T>A c.157+2T>A (n.157+2T>A) c.291+2T>A c.256+2T>A (n.256+2T>A) c.36+2T>A c.249+2T>A | gnomAD v4 |
2 | g.32064248T>C | CA346602526 | SPAST | c.415+2T>C (n.415+2T>C) c.299+2T>C c.285+2T>C c.157+2T>C (n.157+2T>C) c.291+2T>C c.256+2T>C (n.256+2T>C) c.36+2T>C c.249+2T>C | gnomAD v4 |
2 | g.32064248T>G | CA346602527 | SPAST | c.415+2T>G (n.415+2T>G) c.299+2T>G c.285+2T>G c.157+2T>G (n.157+2T>G) c.291+2T>G c.256+2T>G (n.256+2T>G) c.36+2T>G c.249+2T>G | gnomAD v4 |
2 | g.32064249A>C | CA2658519904 | SPAST | c.415+3A>C (n.415+3A>C) c.299+3A>C c.285+3A>C c.157+3A>C (n.157+3A>C) c.291+3A>C c.256+3A>C (n.256+3A>C) c.36+3A>C c.249+3A>C | gnomAD v4 |
2 | g.32064249A>G | CA2658519905 | SPAST | c.415+3A>G (n.415+3A>G) c.299+3A>G c.285+3A>G c.157+3A>G (n.157+3A>G) c.291+3A>G c.256+3A>G (n.256+3A>G) c.36+3A>G c.249+3A>G | gnomAD v4 |
2 | g.32064249A>T | CA2658519906 | SPAST | c.415+3A>T (n.415+3A>T) c.299+3A>T c.285+3A>T c.157+3A>T (n.157+3A>T) c.291+3A>T c.256+3A>T (n.256+3A>T) c.36+3A>T c.249+3A>T | gnomAD v4 |
2 | g.32064250A>C | CA2658519909 | SPAST | c.415+4A>C (n.415+4A>C) c.299+4A>C c.285+4A>C c.157+4A>C (n.157+4A>C) c.291+4A>C c.256+4A>C (n.256+4A>C) c.36+4A>C c.249+4A>C | gnomAD v4 |
2 | g.32064250A>G | CA2658519907 | SPAST | c.415+4A>G (n.415+4A>G) c.299+4A>G c.285+4A>G c.157+4A>G (n.157+4A>G) c.291+4A>G c.256+4A>G (n.256+4A>G) c.36+4A>G c.249+4A>G | gnomAD v4 |
2 | g.32064250A>T | CA2658519908 | SPAST | c.415+4A>T (n.415+4A>T) c.299+4A>T c.285+4A>T c.157+4A>T (n.157+4A>T) c.291+4A>T c.256+4A>T (n.256+4A>T) c.36+4A>T c.249+4A>T | gnomAD v4 |
2 | g.32064251C>A | CA2658519910 | SPAST | c.415+5C>A (n.415+5C>A) c.299+5C>A c.285+5C>A c.157+5C>A (n.157+5C>A) c.291+5C>A c.256+5C>A (n.256+5C>A) c.36+5C>A c.249+5C>A | gnomAD v4 |
2 | g.32064251C>T | CA2658519911 | SPAST | c.415+5C>T (n.415+5C>T) c.299+5C>T c.285+5C>T c.157+5C>T (n.157+5C>T) c.291+5C>T c.256+5C>T (n.256+5C>T) c.36+5C>T c.249+5C>T | gnomAD v4 |
2 | g.32064252T>A | CA2658519913 | SPAST | c.415+6T>A (n.415+6T>A) c.299+6T>A c.285+6T>A c.157+6T>A (n.157+6T>A) c.291+6T>A c.256+6T>A (n.256+6T>A) c.36+6T>A c.249+6T>A | gnomAD v4 |
2 | g.32064252T>C | CA1242461836 | SPAST | c.415+6T>C (n.415+6T>C) c.299+6T>C c.285+6T>C c.157+6T>C (n.157+6T>C) c.291+6T>C c.256+6T>C (n.256+6T>C) c.36+6T>C c.249+6T>C | dbSNP gnomAD v4 |
2 | g.32064252T>G | CA2658519914 | SPAST | c.415+6T>G (n.415+6T>G) c.299+6T>G c.285+6T>G c.157+6T>G (n.157+6T>G) c.291+6T>G c.256+6T>G (n.256+6T>G) c.36+6T>G c.249+6T>G | gnomAD v4 |
2 | g.32064252T= | CA1242461837 | SPAST | c.415+6T= (n.415+6T=) c.299+6T= c.285+6T= c.157+6T= (n.157+6T=) c.291+6T= c.256+6T= (n.256+6T=) c.36+6T= c.249+6T= | |
2 | g.32064252_32064264del | CA2658519912 | SPAST | c.415+6_415+18del (n.415+6_415+18del) c.299+6_299+18del c.285+6_285+18del c.157+6_157+18del (n.157+6_157+18del) c.291+6_291+18del c.256+6_256+18del (n.256+6_256+18del) c.36+6_36+18del c.249+6_249+18del | dbSNP gnomAD v4 |
2 | g.32064253del | CA2658519915 | SPAST | c.415+7del (n.415+7del) c.299+7del c.285+7del c.157+7del (n.157+7del) c.291+7del c.256+7del (n.256+7del) c.36+7del c.249+7del | gnomAD v4 |
2 | g.32064253A= | CA1242461838 | SPAST | c.415+7A= (n.415+7A=) c.299+7A= c.285+7A= c.157+7A= (n.157+7A=) c.291+7A= c.256+7A= (n.256+7A=) c.36+7A= c.249+7A= | |
2 | g.32064253A>C | CA2658519916 | SPAST | c.415+7A>C (n.415+7A>C) c.299+7A>C c.285+7A>C c.157+7A>C (n.157+7A>C) c.291+7A>C c.256+7A>C (n.256+7A>C) c.36+7A>C c.249+7A>C | gnomAD v4 |
2 | g.32064253A>G | CA531769480 | SPAST | c.415+7A>G (n.415+7A>G) c.299+7A>G c.285+7A>G c.157+7A>G (n.157+7A>G) c.291+7A>G c.256+7A>G (n.256+7A>G) c.36+7A>G c.249+7A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064253A>T | CA2658519917 | SPAST | c.415+7A>T (n.415+7A>T) c.299+7A>T c.285+7A>T c.157+7A>T (n.157+7A>T) c.291+7A>T c.256+7A>T (n.256+7A>T) c.36+7A>T c.249+7A>T | gnomAD v4 |
2 | g.32064253_32064259del | CA2749388910 | SPAST | c.415+7_415+13del (n.415+7_415+13del) c.299+7_299+13del c.285+7_285+13del c.157+7_157+13del (n.157+7_157+13del) c.291+7_291+13del c.256+7_256+13del (n.256+7_256+13del) c.36+7_36+13del c.249+7_249+13del | |
2 | g.32064260_32064272del | CA2576929941 | SPAST | c.415+14_415+26del (n.415+14_415+26del) c.299+14_299+26del c.285+14_285+26del c.157+14_157+26del (n.157+14_157+26del) c.291+14_291+26del c.256+14_256+26del (n.256+14_256+26del) c.36+14_36+26del c.249+14_249+26del | gnomAD v4 |
2 | g.32064254G>A | CA2658519919 | SPAST | c.415+8G>A (n.415+8G>A) c.299+8G>A c.285+8G>A c.157+8G>A (n.157+8G>A) c.291+8G>A c.256+8G>A (n.256+8G>A) c.36+8G>A c.249+8G>A | gnomAD v4 |
2 | g.32064254G>T | CA2658519918 | SPAST | c.415+8G>T (n.415+8G>T) c.299+8G>T c.285+8G>T c.157+8G>T (n.157+8G>T) c.291+8G>T c.256+8G>T (n.256+8G>T) c.36+8G>T c.249+8G>T | gnomAD v4 |
2 | g.32064258dup | CA2658519920 | SPAST | c.415+12dup (n.415+12dup) c.299+12dup c.285+12dup c.157+12dup (n.157+12dup) c.291+12dup c.256+12dup (n.256+12dup) c.36+12dup c.249+12dup | gnomAD v4 |
2 | g.32064258del | CA531769481 | SPAST | c.415+12del (n.415+12del) c.299+12del c.285+12del c.157+12del (n.157+12del) c.291+12del c.256+12del (n.256+12del) c.36+12del c.249+12del | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064259_32064265del | CA2658519921 | SPAST | c.415+13_415+19del (n.415+13_415+19del) c.299+13_299+19del c.285+13_285+19del c.157+13_157+19del (n.157+13_157+19del) c.291+13_291+19del c.256+13_256+19del (n.256+13_256+19del) c.36+13_36+19del c.249+13_249+19del | gnomAD v4 |
2 | g.32064255G>A | CA2658519922 | SPAST | c.415+9G>A (n.415+9G>A) c.299+9G>A c.285+9G>A c.157+9G>A (n.157+9G>A) c.291+9G>A c.256+9G>A (n.256+9G>A) c.36+9G>A c.249+9G>A | gnomAD v4 |
2 | g.32064255G>T | CA2658519923 | SPAST | c.415+9G>T (n.415+9G>T) c.299+9G>T c.285+9G>T c.157+9G>T (n.157+9G>T) c.291+9G>T c.256+9G>T (n.256+9G>T) c.36+9G>T c.249+9G>T | gnomAD v4 |
2 | g.32064256G>A | CA767739250 | SPAST | c.415+10G>A (n.415+10G>A) c.299+10G>A c.285+10G>A c.157+10G>A (n.157+10G>A) c.291+10G>A c.256+10G>A (n.256+10G>A) c.36+10G>A c.249+10G>A | dbSNP gnomAD v4 |
2 | g.32064256G>C | CA1028990124 | SPAST | c.415+10G>C (n.415+10G>C) c.299+10G>C c.285+10G>C c.157+10G>C (n.157+10G>C) c.291+10G>C c.256+10G>C (n.256+10G>C) c.36+10G>C c.249+10G>C | gnomAD v3 gnomAD v4 |
2 | g.32064256G= | CA1242461839 | SPAST | c.415+10G= (n.415+10G=) c.299+10G= c.285+10G= c.157+10G= (n.157+10G=) c.291+10G= c.256+10G= (n.256+10G=) c.36+10G= c.249+10G= | |
2 | g.32064256G>T | CA2573051930 | SPAST | c.415+10G>T (n.415+10G>T) c.299+10G>T c.285+10G>T c.157+10G>T (n.157+10G>T) c.291+10G>T c.256+10G>T (n.256+10G>T) c.36+10G>T c.249+10G>T | ClinVar dbSNP gnomAD v4 |
2 | g.32064259_32064263del | CA2658519924 | SPAST | c.415+13_415+17del (n.415+13_415+17del) c.299+13_299+17del c.285+13_285+17del c.157+13_157+17del (n.157+13_157+17del) c.291+13_291+17del c.256+13_256+17del (n.256+13_256+17del) c.36+13_36+17del c.249+13_249+17del | gnomAD v4 |
2 | g.32064257G>A | CA2658519926 | SPAST | c.415+11G>A (n.415+11G>A) c.299+11G>A c.285+11G>A c.157+11G>A (n.157+11G>A) c.291+11G>A c.256+11G>A (n.256+11G>A) c.36+11G>A c.249+11G>A | gnomAD v4 |
2 | g.32064257G>C | CA2576929942 | SPAST | c.415+11G>C (n.415+11G>C) c.299+11G>C c.285+11G>C c.157+11G>C (n.157+11G>C) c.291+11G>C c.256+11G>C (n.256+11G>C) c.36+11G>C c.249+11G>C | gnomAD v4 |
2 | g.32064257G>T | CA2658519925 | SPAST | c.415+11G>T (n.415+11G>T) c.299+11G>T c.285+11G>T c.157+11G>T (n.157+11G>T) c.291+11G>T c.256+11G>T (n.256+11G>T) c.36+11G>T c.249+11G>T | gnomAD v4 |
2 | g.32064258G>A | CA1600565 | SPAST | c.415+12G>A (n.415+12G>A) c.299+12G>A c.285+12G>A c.157+12G>A (n.157+12G>A) c.291+12G>A c.256+12G>A (n.256+12G>A) c.36+12G>A c.249+12G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064258G>C | CA1600564 | SPAST | c.415+12G>C (n.415+12G>C) c.299+12G>C c.285+12G>C c.157+12G>C (n.157+12G>C) c.291+12G>C c.256+12G>C (n.256+12G>C) c.36+12G>C c.249+12G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32064258G= | CA1242461840 | SPAST | c.415+12G= (n.415+12G=) c.299+12G= c.285+12G= c.157+12G= (n.157+12G=) c.291+12G= c.256+12G= (n.256+12G=) c.36+12G= c.249+12G= | |
2 | g.32064258G>T | CA2658519928 | SPAST | c.415+12G>T (n.415+12G>T) c.299+12G>T c.285+12G>T c.157+12G>T (n.157+12G>T) c.291+12G>T c.256+12G>T (n.256+12G>T) c.36+12G>T c.249+12G>T | gnomAD v4 |
2 | g.32064259_32064293del | CA2658519927 | SPAST | c.415+13_415+47del (n.415+13_415+47del) c.299+13_299+47del c.285+13_285+47del c.157+13_157+47del (n.157+13_157+47del) c.291+13_291+47del c.256+13_256+47del (n.256+13_256+47del) c.36+13_36+47del c.249+13_249+47del | gnomAD v4 |
2 | g.32064259C>A | CA531769482 | SPAST | c.415+13C>A (n.415+13C>A) c.299+13C>A c.285+13C>A c.157+13C>A (n.157+13C>A) c.291+13C>A c.256+13C>A (n.256+13C>A) c.36+13C>A c.249+13C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064259C= | CA1242461841 | SPAST | c.415+13C= (n.415+13C=) c.299+13C= c.285+13C= c.157+13C= (n.157+13C=) c.291+13C= c.256+13C= (n.256+13C=) c.36+13C= c.249+13C= | |
2 | g.32064259C>G | CA531769483 | SPAST | c.415+13C>G (n.415+13C>G) c.299+13C>G c.285+13C>G c.157+13C>G (n.157+13C>G) c.291+13C>G c.256+13C>G (n.256+13C>G) c.36+13C>G c.249+13C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064259C>T | CA2658519930 | SPAST | c.415+13C>T (n.415+13C>T) c.299+13C>T c.285+13C>T c.157+13C>T (n.157+13C>T) c.291+13C>T c.256+13C>T (n.256+13C>T) c.36+13C>T c.249+13C>T | gnomAD v4 |
2 | g.32064259_32064260del | CA2658519929 | SPAST | c.415+13_415+14del (n.415+13_415+14del) c.299+13_299+14del c.285+13_285+14del c.157+13_157+14del (n.157+13_157+14del) c.291+13_291+14del c.256+13_256+14del (n.256+13_256+14del) c.36+13_36+14del c.249+13_249+14del | gnomAD v4 |
2 | g.32064259_32064266del | CA2658519932 | SPAST | c.415+13_415+20del (n.415+13_415+20del) c.299+13_299+20del c.285+13_285+20del c.157+13_157+20del (n.157+13_157+20del) c.291+13_291+20del c.256+13_256+20del (n.256+13_256+20del) c.36+13_36+20del c.249+13_249+20del | gnomAD v4 |
2 | g.32064262_32064335del | CA2658519931 | SPAST | c.415+16_415+89del (n.415+16_415+89del) c.299+16_299+89del c.285+16_285+89del c.157+16_157+89del (n.157+16_157+89del) c.291+16_291+89del c.256+16_256+89del (n.256+16_256+89del) c.36+16_36+89del c.249+16_249+89del | gnomAD v4 |
2 | g.32064259_32064260insGGGGGG | CA2840092943 | SPAST | c.415+13_415+14insGGGGGG (n.415+13_415+14insGGGGGG) c.299+13_299+14insGGGGGG c.285+13_285+14insGGGGGG c.157+13_157+14insGGGGGG (n.157+13_157+14insGGGGGG) c.291+13_291+14insGGGGGG c.256+13_256+14insGGGGGG (n.256+13_256+14insGGGGGG) c.36+13_36+14insGGGGGG c.249+13_249+14insGGGGGG | |
2 | g.32064260del | CA2595218023 | SPAST | c.415+14del (n.415+14del) c.299+14del c.285+14del c.157+14del (n.157+14del) c.291+14del c.256+14del (n.256+14del) c.36+14del c.249+14del | gnomAD v3 gnomAD v4 |
2 | g.32064260T>A | CA2658519934 | SPAST | c.415+14T>A (n.415+14T>A) c.299+14T>A c.285+14T>A c.157+14T>A (n.157+14T>A) c.291+14T>A c.256+14T>A (n.256+14T>A) c.36+14T>A c.249+14T>A | gnomAD v4 |
2 | g.32064260T>G | CA531769484 | SPAST | c.415+14T>G (n.415+14T>G) c.299+14T>G c.285+14T>G c.157+14T>G (n.157+14T>G) c.291+14T>G c.256+14T>G (n.256+14T>G) c.36+14T>G c.249+14T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.32064260T= | CA1242461843 | SPAST | c.415+14T= (n.415+14T=) c.299+14T= c.285+14T= c.157+14T= (n.157+14T=) c.291+14T= c.256+14T= (n.256+14T=) c.36+14T= c.249+14T= | |
2 | g.32064260_32064261delinsTG | CA1242461842 | SPAST | c.415+14_415+15delinsTG (n.415+14_415+15delinsTG) c.299+14_299+15delinsTG c.285+14_285+15delinsTG c.157+14_157+15delinsTG (n.157+14_157+15delinsTG) c.291+14_291+15delinsTG c.256+14_256+15delinsTG (n.256+14_256+15delinsTG) c.36+14_36+15delinsTG c.249+14_249+15delinsTG | |
2 | g.32064260_32064300del | CA2658519933 | SPAST | c.415+14_415+54del (n.415+14_415+54del) c.299+14_299+54del c.285+14_285+54del c.157+14_157+54del (n.157+14_157+54del) c.291+14_291+54del c.256+14_256+54del (n.256+14_256+54del) c.36+14_36+54del c.249+14_249+54del | gnomAD v4 |
2 | g.32064261G>A | CA2658519936 | SPAST | c.415+15G>A (n.415+15G>A) c.299+15G>A c.285+15G>A c.157+15G>A (n.157+15G>A) c.291+15G>A c.256+15G>A (n.256+15G>A) c.36+15G>A c.249+15G>A | gnomAD v4 |
2 | g.32064261G>C | CA2530227592 | SPAST | c.415+15G>C (n.415+15G>C) c.299+15G>C c.285+15G>C c.157+15G>C (n.157+15G>C) c.291+15G>C c.256+15G>C (n.256+15G>C) c.36+15G>C c.249+15G>C | gnomAD v4 |
2 | g.32064261G= | CA1242461844 | SPAST | c.415+15G= (n.415+15G=) c.299+15G= c.285+15G= c.157+15G= (n.157+15G=) c.291+15G= c.256+15G= (n.256+15G=) c.36+15G= c.249+15G= | |
2 | g.32064261G>T | CA531769486 | SPAST | c.415+15G>T (n.415+15G>T) c.299+15G>T c.285+15G>T c.157+15G>T (n.157+15G>T) c.291+15G>T c.256+15G>T (n.256+15G>T) c.36+15G>T c.249+15G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064261_32064265del | CA2576929944 | SPAST | c.415+15_415+19del (n.415+15_415+19del) c.299+15_299+19del c.285+15_285+19del c.157+15_157+19del (n.157+15_157+19del) c.291+15_291+19del c.256+15_256+19del (n.256+15_256+19del) c.36+15_36+19del c.249+15_249+19del | |
2 | g.32064265_32064266insGGGGGGG | CA2658519944 | SPAST | c.415+19_415+20insGGGGGGG (n.415+19_415+20insGGGGGGG) c.299+19_299+20insGGGGGGG c.285+19_285+20insGGGGGGG c.157+19_157+20insGGGGGGG (n.157+19_157+20insGGGGGGG) c.291+19_291+20insGGGGGGG c.256+19_256+20insGGGGGGG (n.256+19_256+20insGGGGGGG) c.36+19_36+20insGGGGGGG c.249+19_249+20insGGGGGGG | gnomAD v4 |
2 | g.32064265_32064266insGGGGGGGG | CA2658519943 | SPAST | c.415+19_415+20insGGGGGGGG (n.415+19_415+20insGGGGGGGG) c.299+19_299+20insGGGGGGGG c.285+19_285+20insGGGGGGGG c.157+19_157+20insGGGGGGGG (n.157+19_157+20insGGGGGGGG) c.291+19_291+20insGGGGGGGG c.256+19_256+20insGGGGGGGG (n.256+19_256+20insGGGGGGGG) c.36+19_36+20insGGGGGGGG c.249+19_249+20insGGGGGGGG | gnomAD v4 |
2 | g.32064265_32064266insGGGGGGGGG | CA2658519942 | SPAST | c.415+19_415+20insGGGGGGGGG (n.415+19_415+20insGGGGGGGGG) c.299+19_299+20insGGGGGGGGG c.285+19_285+20insGGGGGGGGG c.157+19_157+20insGGGGGGGGG (n.157+19_157+20insGGGGGGGGG) c.291+19_291+20insGGGGGGGGG c.256+19_256+20insGGGGGGGGG (n.256+19_256+20insGGGGGGGGG) c.36+19_36+20insGGGGGGGGG c.249+19_249+20insGGGGGGGGG | gnomAD v4 |
2 | g.32064265_32064266insGGGGGGGGGG | CA2658519935 | SPAST | c.415+19_415+20insGGGGGGGGGG (n.415+19_415+20insGGGGGGGGGG) c.299+19_299+20insGGGGGGGGGG c.285+19_285+20insGGGGGGGGGG c.157+19_157+20insGGGGGGGGGG (n.157+19_157+20insGGGGGGGGGG) c.291+19_291+20insGGGGGGGGGG c.256+19_256+20insGGGGGGGGGG (n.256+19_256+20insGGGGGGGGGG) c.36+19_36+20insGGGGGGGGGG c.249+19_249+20insGGGGGGGGGG | gnomAD v4 |
2 | g.32064265_32064266insGGGGGGGGGGG | CA2658519941 | SPAST | c.415+19_415+20insGGGGGGGGGGG (n.415+19_415+20insGGGGGGGGGGG) c.299+19_299+20insGGGGGGGGGGG c.285+19_285+20insGGGGGGGGGGG c.157+19_157+20insGGGGGGGGGGG (n.157+19_157+20insGGGGGGGGGGG) c.291+19_291+20insGGGGGGGGGGG c.256+19_256+20insGGGGGGGGGGG (n.256+19_256+20insGGGGGGGGGGG) c.36+19_36+20insGGGGGGGGGGG c.249+19_249+20insGGGGGGGGGGG | gnomAD v4 |
2 | g.32064265_32064266insGGGGGGGGGGGGGGGG | CA2658519940 | SPAST | c.415+19_415+20insGGGGGGGGGGGGGGGG (n.415+19_415+20insGGGGGGGGGGGGGGGG) c.299+19_299+20insGGGGGGGGGGGGGGGG c.285+19_285+20insGGGGGGGGGGGGGGGG c.157+19_157+20insGGGGGGGGGGGGGGGG (n.157+19_157+20insGGGGGGGGGGGGGGGG) c.291+19_291+20insGGGGGGGGGGGGGGGG c.256+19_256+20insGGGGGGGGGGGGGGGG (n.256+19_256+20insGGGGGGGGGGGGGGGG) c.36+19_36+20insGGGGGGGGGGGGGGGG c.249+19_249+20insGGGGGGGGGGGGGGGG | gnomAD v4 |
2 | g.32064265dup | CA2658519948 | SPAST | c.415+19dup (n.415+19dup) c.299+19dup c.285+19dup c.157+19dup (n.157+19dup) c.291+19dup c.256+19dup (n.256+19dup) c.36+19dup c.249+19dup | gnomAD v4 |
2 | g.32064263_32064265dup | CA2658519947 | SPAST | c.415+17_415+19dup (n.415+17_415+19dup) c.299+17_299+19dup c.285+17_285+19dup c.157+17_157+19dup (n.157+17_157+19dup) c.291+17_291+19dup c.256+17_256+19dup (n.256+17_256+19dup) c.36+17_36+19dup c.249+17_249+19dup | gnomAD v4 |
2 | g.32064265del | CA531769485 | SPAST | c.415+19del (n.415+19del) c.299+19del c.285+19del c.157+19del (n.157+19del) c.291+19del c.256+19del (n.256+19del) c.36+19del c.249+19del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064264_32064265del | CA2658519939 | SPAST | c.415+18_415+19del (n.415+18_415+19del) c.299+18_299+19del c.285+18_285+19del c.157+18_157+19del (n.157+18_157+19del) c.291+18_291+19del c.256+18_256+19del (n.256+18_256+19del) c.36+18_36+19del c.249+18_249+19del | gnomAD v4 |
2 | g.32064265_32064271dup | CA2658519946 | SPAST | c.415+19_415+25dup (n.415+19_415+25dup) c.299+19_299+25dup c.285+19_285+25dup c.157+19_157+25dup (n.157+19_157+25dup) c.291+19_291+25dup c.256+19_256+25dup (n.256+19_256+25dup) c.36+19_36+25dup c.249+19_249+25dup | gnomAD v4 |
2 | g.32064266_32064271del | CA2658519938 | SPAST | c.415+20_415+25del (n.415+20_415+25del) c.299+20_299+25del c.285+20_285+25del c.157+20_157+25del (n.157+20_157+25del) c.291+20_291+25del c.256+20_256+25del (n.256+20_256+25del) c.36+20_36+25del c.249+20_249+25del | gnomAD v4 |
2 | g.32064262_32064274del | CA2576929943 | SPAST | c.415+16_415+28del (n.415+16_415+28del) c.299+16_299+28del c.285+16_285+28del c.157+16_157+28del (n.157+16_157+28del) c.291+16_291+28del c.256+16_256+28del (n.256+16_256+28del) c.36+16_36+28del c.249+16_249+28del | |
2 | g.32064263_32064284dup | CA2658519945 | SPAST | c.415+17_415+38dup (n.415+17_415+38dup) c.299+17_299+38dup c.285+17_285+38dup c.157+17_157+38dup (n.157+17_157+38dup) c.291+17_291+38dup c.256+17_256+38dup (n.256+17_256+38dup) c.36+17_36+38dup c.249+17_249+38dup | gnomAD v4 |
2 | g.32064262_32064284dup | CA2749388911 | SPAST | c.415+16_415+38dup (n.415+16_415+38dup) c.299+16_299+38dup c.285+16_285+38dup c.157+16_157+38dup (n.157+16_157+38dup) c.291+16_291+38dup c.256+16_256+38dup (n.256+16_256+38dup) c.36+16_36+38dup c.249+16_249+38dup | |
2 | g.32064270_32064313del | CA1028990153 | SPAST | c.415+24_415+67del (n.415+24_415+67del) c.299+24_299+67del c.285+24_285+67del c.157+24_157+67del (n.157+24_157+67del) c.291+24_291+67del c.256+24_256+67del (n.256+24_256+67del) c.36+24_36+67del c.249+24_249+67del | gnomAD v3 gnomAD v4 |
2 | g.32064264_32064313del | CA2658519937 | SPAST | c.415+18_415+67del (n.415+18_415+67del) c.299+18_299+67del c.285+18_285+67del c.157+18_157+67del (n.157+18_157+67del) c.291+18_291+67del c.256+18_256+67del (n.256+18_256+67del) c.36+18_36+67del c.249+18_249+67del | gnomAD v4 |
2 | g.32064261_32064262insT | CA2658519951 | SPAST | c.415+15_415+16insT (n.415+15_415+16insT) c.299+15_299+16insT c.285+15_285+16insT c.157+15_157+16insT (n.157+15_157+16insT) c.291+15_291+16insT c.256+15_256+16insT (n.256+15_256+16insT) c.36+15_36+16insT c.249+15_249+16insT | gnomAD v4 |
2 | g.32064262G>A | CA2576929945 | SPAST | c.415+16G>A (n.415+16G>A) c.299+16G>A c.285+16G>A c.157+16G>A (n.157+16G>A) c.291+16G>A c.256+16G>A (n.256+16G>A) c.36+16G>A c.249+16G>A | gnomAD v4 |
2 | g.32064262G>C | CA767739265 | SPAST | c.415+16G>C (n.415+16G>C) c.299+16G>C c.285+16G>C c.157+16G>C (n.157+16G>C) c.291+16G>C c.256+16G>C (n.256+16G>C) c.36+16G>C c.249+16G>C | dbSNP |
2 | g.32064262G= | CA1242461845 | SPAST | c.415+16G= (n.415+16G=) c.299+16G= c.285+16G= c.157+16G= (n.157+16G=) c.291+16G= c.256+16G= (n.256+16G=) c.36+16G= c.249+16G= | |
2 | g.32064262G>T | CA1242461846 | SPAST | c.415+16G>T (n.415+16G>T) c.299+16G>T c.285+16G>T c.157+16G>T (n.157+16G>T) c.291+16G>T c.256+16G>T (n.256+16G>T) c.36+16G>T c.249+16G>T | dbSNP gnomAD v4 |
2 | g.32064266_32064270del | CA2658519950 | SPAST | c.415+20_415+24del (n.415+20_415+24del) c.299+20_299+24del c.285+20_285+24del c.157+20_157+24del (n.157+20_157+24del) c.291+20_291+24del c.256+20_256+24del (n.256+20_256+24del) c.36+20_36+24del c.249+20_249+24del | gnomAD v4 |
2 | g.32064265_32064284del | CA2658519952 | SPAST | c.415+19_415+38del (n.415+19_415+38del) c.299+19_299+38del c.285+19_285+38del c.157+19_157+38del (n.157+19_157+38del) c.291+19_291+38del c.256+19_256+38del (n.256+19_256+38del) c.36+19_36+38del c.249+19_249+38del | gnomAD v4 |
2 | g.32064266_32064308del | CA2658519949 | SPAST | c.415+20_415+62del (n.415+20_415+62del) c.299+20_299+62del c.285+20_285+62del c.157+20_157+62del (n.157+20_157+62del) c.291+20_291+62del c.256+20_256+62del (n.256+20_256+62del) c.36+20_36+62del c.249+20_249+62del | gnomAD v4 |
2 | g.32064263G>A | CA2658519953 | SPAST | c.415+17G>A (n.415+17G>A) c.299+17G>A c.285+17G>A c.157+17G>A (n.157+17G>A) c.291+17G>A c.256+17G>A (n.256+17G>A) c.36+17G>A c.249+17G>A | gnomAD v4 |
2 | g.32064263G>C | CA531769487 | SPAST | c.415+17G>C (n.415+17G>C) c.299+17G>C c.285+17G>C c.157+17G>C (n.157+17G>C) c.291+17G>C c.256+17G>C (n.256+17G>C) c.36+17G>C c.249+17G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064263G= | CA1242461847 | SPAST | c.415+17G= (n.415+17G=) c.299+17G= c.285+17G= c.157+17G= (n.157+17G=) c.291+17G= c.256+17G= (n.256+17G=) c.36+17G= c.249+17G= | |
2 | g.32064263G>T | CA1600566 | SPAST | c.415+17G>T (n.415+17G>T) c.299+17G>T c.285+17G>T c.157+17G>T (n.157+17G>T) c.291+17G>T c.256+17G>T (n.256+17G>T) c.36+17G>T c.249+17G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064266_32064269del | CA2658519957 | SPAST | c.415+20_415+23del (n.415+20_415+23del) c.299+20_299+23del c.285+20_285+23del c.157+20_157+23del (n.157+20_157+23del) c.291+20_291+23del c.256+20_256+23del (n.256+20_256+23del) c.36+20_36+23del c.249+20_249+23del | gnomAD v4 |
2 | g.32064265_32064277del | CA2658519956 | SPAST | c.415+19_415+31del (n.415+19_415+31del) c.299+19_299+31del c.285+19_285+31del c.157+19_157+31del (n.157+19_157+31del) c.291+19_291+31del c.256+19_256+31del (n.256+19_256+31del) c.36+19_36+31del c.249+19_249+31del | gnomAD v4 |
2 | g.32064266_32064298del | CA2658519955 | SPAST | c.415+20_415+52del (n.415+20_415+52del) c.299+20_299+52del c.285+20_285+52del c.157+20_157+52del (n.157+20_157+52del) c.291+20_291+52del c.256+20_256+52del (n.256+20_256+52del) c.36+20_36+52del c.249+20_249+52del | gnomAD v4 |
2 | g.32064271_32064344del | CA2658519954 | SPAST | c.415+25_415+98del (n.415+25_415+98del) c.299+25_299+98del c.285+25_285+98del c.157+25_157+98del (n.157+25_157+98del) c.291+25_291+98del c.256+25_256+98del (n.256+25_256+98del) c.36+25_36+98del c.249+25_249+98del | gnomAD v4 |
2 | g.32064264G>A | CA531769488 | SPAST | c.415+18G>A (n.415+18G>A) c.299+18G>A c.285+18G>A c.157+18G>A (n.157+18G>A) c.291+18G>A c.256+18G>A (n.256+18G>A) c.36+18G>A c.249+18G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064264G= | CA1242461848 | SPAST | c.415+18G= (n.415+18G=) c.299+18G= c.285+18G= c.157+18G= (n.157+18G=) c.291+18G= c.256+18G= (n.256+18G=) c.36+18G= c.249+18G= | |
2 | g.32064264G>T | CA2658519962 | SPAST | c.415+18G>T (n.415+18G>T) c.299+18G>T c.285+18G>T c.157+18G>T (n.157+18G>T) c.291+18G>T c.256+18G>T (n.256+18G>T) c.36+18G>T c.249+18G>T | gnomAD v4 |
2 | g.32064266_32064268del | CA2658519958 | SPAST | c.415+20_415+22del (n.415+20_415+22del) c.299+20_299+22del c.285+20_285+22del c.157+20_157+22del (n.157+20_157+22del) c.291+20_291+22del c.256+20_256+22del (n.256+20_256+22del) c.36+20_36+22del c.249+20_249+22del | gnomAD v4 |
2 | g.32064266_32064283del | CA2658519959 | SPAST | c.415+20_415+37del (n.415+20_415+37del) c.299+20_299+37del c.285+20_285+37del c.157+20_157+37del (n.157+20_157+37del) c.291+20_291+37del c.256+20_256+37del (n.256+20_256+37del) c.36+20_36+37del c.249+20_249+37del | gnomAD v4 |
2 | g.32064266_32064294del | CA2658519960 | SPAST | c.415+20_415+48del (n.415+20_415+48del) c.299+20_299+48del c.285+20_285+48del c.157+20_157+48del (n.157+20_157+48del) c.291+20_291+48del c.256+20_256+48del (n.256+20_256+48del) c.36+20_36+48del c.249+20_249+48del | gnomAD v4 |
2 | g.32064266_32064297del | CA2658519961 | SPAST | c.415+20_415+51del (n.415+20_415+51del) c.299+20_299+51del c.285+20_285+51del c.157+20_157+51del (n.157+20_157+51del) c.291+20_291+51del c.256+20_256+51del (n.256+20_256+51del) c.36+20_36+51del c.249+20_249+51del | gnomAD v4 |
2 | g.32064265G>A | CA1028990166 | SPAST | c.415+19G>A (n.415+19G>A) c.299+19G>A c.285+19G>A c.157+19G>A (n.157+19G>A) c.291+19G>A c.256+19G>A (n.256+19G>A) c.36+19G>A c.249+19G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064265G= | CA1242461849 | SPAST | c.415+19G= (n.415+19G=) c.299+19G= c.285+19G= c.157+19G= (n.157+19G=) c.291+19G= c.256+19G= (n.256+19G=) c.36+19G= c.249+19G= | |
2 | g.32064265G>T | CA2658519964 | SPAST | c.415+19G>T (n.415+19G>T) c.299+19G>T c.285+19G>T c.157+19G>T (n.157+19G>T) c.291+19G>T c.256+19G>T (n.256+19G>T) c.36+19G>T c.249+19G>T | gnomAD v4 |
2 | g.32064266_32064267del | CA2658519963 | SPAST | c.415+20_415+21del (n.415+20_415+21del) c.299+20_299+21del c.285+20_285+21del c.157+20_157+21del (n.157+20_157+21del) c.291+20_291+21del c.256+20_256+21del (n.256+20_256+21del) c.36+20_36+21del c.249+20_249+21del | gnomAD v4 |
2 | g.32064266_32064293del | CA2658519966 | SPAST | c.415+20_415+47del (n.415+20_415+47del) c.299+20_299+47del c.285+20_285+47del c.157+20_157+47del (n.157+20_157+47del) c.291+20_291+47del c.256+20_256+47del (n.256+20_256+47del) c.36+20_36+47del c.249+20_249+47del | gnomAD v4 |
2 | g.32064266_32064296del | CA2658519965 | SPAST | c.415+20_415+50del (n.415+20_415+50del) c.299+20_299+50del c.285+20_285+50del c.157+20_157+50del (n.157+20_157+50del) c.291+20_291+50del c.256+20_256+50del (n.256+20_256+50del) c.36+20_36+50del c.249+20_249+50del | gnomAD v4 |
2 | g.32064266del | CA2658519967 | SPAST | c.415+20del (n.415+20del) c.299+20del c.285+20del c.157+20del (n.157+20del) c.291+20del c.256+20del (n.256+20del) c.36+20del c.249+20del | gnomAD v4 |
2 | g.32064266A= | CA1242461850 | SPAST | c.415+20A= (n.415+20A=) c.299+20A= c.285+20A= c.157+20A= (n.157+20A=) c.291+20A= c.256+20A= (n.256+20A=) c.36+20A= c.249+20A= | |
2 | g.32064266A>C | CA2658519970 | SPAST | c.415+20A>C (n.415+20A>C) c.299+20A>C c.285+20A>C c.157+20A>C (n.157+20A>C) c.291+20A>C c.256+20A>C (n.256+20A>C) c.36+20A>C c.249+20A>C | gnomAD v4 |
2 | g.32064266A>G | CA531769489 | SPAST | c.415+20A>G (n.415+20A>G) c.299+20A>G c.285+20A>G c.157+20A>G (n.157+20A>G) c.291+20A>G c.256+20A>G (n.256+20A>G) c.36+20A>G c.249+20A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064266A>T | CA2576929946 | SPAST | c.415+20A>T (n.415+20A>T) c.299+20A>T c.285+20A>T c.157+20A>T (n.157+20A>T) c.291+20A>T c.256+20A>T (n.256+20A>T) c.36+20A>T c.249+20A>T | gnomAD v3 gnomAD v4 |
2 | g.32064266_32064278del | CA2658519968 | SPAST | c.415+20_415+32del (n.415+20_415+32del) c.299+20_299+32del c.285+20_285+32del c.157+20_157+32del (n.157+20_157+32del) c.291+20_291+32del c.256+20_256+32del (n.256+20_256+32del) c.36+20_36+32del c.249+20_249+32del | gnomAD v4 |
2 | g.32064266_32064280del | CA2749388912 | SPAST | c.415+20_415+34del (n.415+20_415+34del) c.299+20_299+34del c.285+20_285+34del c.157+20_157+34del (n.157+20_157+34del) c.291+20_291+34del c.256+20_256+34del (n.256+20_256+34del) c.36+20_36+34del c.249+20_249+34del | |
2 | g.32064266_32064295del | CA2658519969 | SPAST | c.415+20_415+49del (n.415+20_415+49del) c.299+20_299+49del c.285+20_285+49del c.157+20_157+49del (n.157+20_157+49del) c.291+20_291+49del c.256+20_256+49del (n.256+20_256+49del) c.36+20_36+49del c.249+20_249+49del | gnomAD v4 |
2 | g.32064267G>A | CA2658519973 | SPAST | c.415+21G>A (n.415+21G>A) c.299+21G>A c.285+21G>A c.157+21G>A (n.157+21G>A) c.291+21G>A c.256+21G>A (n.256+21G>A) c.36+21G>A c.249+21G>A | gnomAD v4 |
2 | g.32064267G>C | CA2576929947 | SPAST | c.415+21G>C (n.415+21G>C) c.299+21G>C c.285+21G>C c.157+21G>C (n.157+21G>C) c.291+21G>C c.256+21G>C (n.256+21G>C) c.36+21G>C c.249+21G>C | |
2 | g.32064267G>T | CA2658519972 | SPAST | c.415+21G>T (n.415+21G>T) c.299+21G>T c.285+21G>T c.157+21G>T (n.157+21G>T) c.291+21G>T c.256+21G>T (n.256+21G>T) c.36+21G>T c.249+21G>T | gnomAD v4 |
2 | g.32064269_32064270insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG | CA2658519979 | SPAST | c.415+23_415+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG (n.415+23_415+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG) c.299+23_299+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG c.285+23_285+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG c.157+23_157+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG (n.157+23_157+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG) c.291+23_291+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG c.256+23_256+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG (n.256+23_256+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG) c.36+23_36+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG c.249+23_249+24insAGAAAAGGTAAAGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
2 | g.32064270_32064271insAAGGGTAACTGGGGGGCGGGGGGGGGGG | CA2840092944 | SPAST | c.415+24_415+25insAAGGGTAACTGGGGGGCGGGGGGGGGGG (n.415+24_415+25insAAGGGTAACTGGGGGGCGGGGGGGGGGG) c.299+24_299+25insAAGGGTAACTGGGGGGCGGGGGGGGGGG c.285+24_285+25insAAGGGTAACTGGGGGGCGGGGGGGGGGG c.157+24_157+25insAAGGGTAACTGGGGGGCGGGGGGGGGGG (n.157+24_157+25insAAGGGTAACTGGGGGGCGGGGGGGGGGG) c.291+24_291+25insAAGGGTAACTGGGGGGCGGGGGGGGGGG c.256+24_256+25insAAGGGTAACTGGGGGGCGGGGGGGGGGG (n.256+24_256+25insAAGGGTAACTGGGGGGCGGGGGGGGGGG) c.36+24_36+25insAAGGGTAACTGGGGGGCGGGGGGGGGGG c.249+24_249+25insAAGGGTAACTGGGGGGCGGGGGGGGGGG | |
2 | g.32064271_32064272insGGGGGG | CA2658519976 | SPAST | c.415+25_415+26insGGGGGG (n.415+25_415+26insGGGGGG) c.299+25_299+26insGGGGGG c.285+25_285+26insGGGGGG c.157+25_157+26insGGGGGG (n.157+25_157+26insGGGGGG) c.291+25_291+26insGGGGGG c.256+25_256+26insGGGGGG (n.256+25_256+26insGGGGGG) c.36+25_36+26insGGGGGG c.249+25_249+26insGGGGGG | gnomAD v4 |
2 | g.32064271_32064272insGGGGGGG | CA2658519980 | SPAST | c.415+25_415+26insGGGGGGG (n.415+25_415+26insGGGGGGG) c.299+25_299+26insGGGGGGG c.285+25_285+26insGGGGGGG c.157+25_157+26insGGGGGGG (n.157+25_157+26insGGGGGGG) c.291+25_291+26insGGGGGGG c.256+25_256+26insGGGGGGG (n.256+25_256+26insGGGGGGG) c.36+25_36+26insGGGGGGG c.249+25_249+26insGGGGGGG | gnomAD v4 |
2 | g.32064271_32064272insGTGGGGG | CA2749388913 | SPAST | c.415+25_415+26insGTGGGGG (n.415+25_415+26insGTGGGGG) c.299+25_299+26insGTGGGGG c.285+25_285+26insGTGGGGG c.157+25_157+26insGTGGGGG (n.157+25_157+26insGTGGGGG) c.291+25_291+26insGTGGGGG c.256+25_256+26insGTGGGGG (n.256+25_256+26insGTGGGGG) c.36+25_36+26insGTGGGGG c.249+25_249+26insGTGGGGG | |
2 | g.32064271_32064272insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG | CA2658519978 | SPAST | c.415+25_415+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG (n.415+25_415+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG) c.299+25_299+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG c.285+25_285+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG c.157+25_157+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG (n.157+25_157+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG) c.291+25_291+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG c.256+25_256+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG (n.256+25_256+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG) c.36+25_36+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG c.249+25_249+26insAGGAAAAGGGAAAGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
2 | g.32064271dup | CA2658519977 | SPAST | c.415+25dup (n.415+25dup) c.299+25dup c.285+25dup c.157+25dup (n.157+25dup) c.291+25dup c.256+25dup (n.256+25dup) c.36+25dup c.249+25dup | gnomAD v4 |
2 | g.32064271del | CA2658519975 | SPAST | c.415+25del (n.415+25del) c.299+25del c.285+25del c.157+25del (n.157+25del) c.291+25del c.256+25del (n.256+25del) c.36+25del c.249+25del | gnomAD v4 |
2 | g.32064269_32064271del | CA2658519974 | SPAST | c.415+23_415+25del (n.415+23_415+25del) c.299+23_299+25del c.285+23_285+25del c.157+23_157+25del (n.157+23_157+25del) c.291+23_291+25del c.256+23_256+25del (n.256+23_256+25del) c.36+23_36+25del c.249+23_249+25del | gnomAD v4 |
2 | g.32064274_32064275insGGGGGGGGGGCGG | CA531769490 | SPAST | c.415+28_415+29insGGGGGGGGGGCGG (n.415+28_415+29insGGGGGGGGGGCGG) c.299+28_299+29insGGGGGGGGGGCGG c.285+28_285+29insGGGGGGGGGGCGG c.157+28_157+29insGGGGGGGGGGCGG (n.157+28_157+29insGGGGGGGGGGCGG) c.291+28_291+29insGGGGGGGGGGCGG c.256+28_256+29insGGGGGGGGGGCGG (n.256+28_256+29insGGGGGGGGGGCGG) c.36+28_36+29insGGGGGGGGGGCGG c.249+28_249+29insGGGGGGGGGGCGG | gnomAD v2 gnomAD v4 |
2 | g.32064269_32064274del | CA2658519971 | SPAST | c.415+23_415+28del (n.415+23_415+28del) c.299+23_299+28del c.285+23_285+28del c.157+23_157+28del (n.157+23_157+28del) c.291+23_291+28del c.256+23_256+28del (n.256+23_256+28del) c.36+23_36+28del c.249+23_249+28del | gnomAD v4 |
2 | g.32064268G>A | CA2658519983 | SPAST | c.415+22G>A (n.415+22G>A) c.299+22G>A c.285+22G>A c.157+22G>A (n.157+22G>A) c.291+22G>A c.256+22G>A (n.256+22G>A) c.36+22G>A c.249+22G>A | gnomAD v4 |
2 | g.32064268G>C | CA2658519981 | SPAST | c.415+22G>C (n.415+22G>C) c.299+22G>C c.285+22G>C c.157+22G>C (n.157+22G>C) c.291+22G>C c.256+22G>C (n.256+22G>C) c.36+22G>C c.249+22G>C | gnomAD v4 |
2 | g.32064268G>T | CA2658519982 | SPAST | c.415+22G>T (n.415+22G>T) c.299+22G>T c.285+22G>T c.157+22G>T (n.157+22G>T) c.291+22G>T c.256+22G>T (n.256+22G>T) c.36+22G>T c.249+22G>T | gnomAD v4 |
2 | g.32064271_32064284del | CA2658519985 | SPAST | c.415+25_415+38del (n.415+25_415+38del) c.299+25_299+38del c.285+25_285+38del c.157+25_157+38del (n.157+25_157+38del) c.291+25_291+38del c.256+25_256+38del (n.256+25_256+38del) c.36+25_36+38del c.249+25_249+38del | gnomAD v4 |
2 | g.32064272_32064299del | CA2658519984 | SPAST | c.415+26_415+53del (n.415+26_415+53del) c.299+26_299+53del c.285+26_285+53del c.157+26_157+53del (n.157+26_157+53del) c.291+26_291+53del c.256+26_256+53del (n.256+26_256+53del) c.36+26_36+53del c.249+26_249+53del | gnomAD v4 |
2 | g.32064269G>A | CA531769491 | SPAST | c.415+23G>A (n.415+23G>A) c.299+23G>A c.285+23G>A c.157+23G>A (n.157+23G>A) c.291+23G>A c.256+23G>A (n.256+23G>A) c.36+23G>A c.249+23G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064269G>C | CA2658519987 | SPAST | c.415+23G>C (n.415+23G>C) c.299+23G>C c.285+23G>C c.157+23G>C (n.157+23G>C) c.291+23G>C c.256+23G>C (n.256+23G>C) c.36+23G>C c.249+23G>C | gnomAD v4 |
2 | g.32064269G= | CA1242461851 | SPAST | c.415+23G= (n.415+23G=) c.299+23G= c.285+23G= c.157+23G= (n.157+23G=) c.291+23G= c.256+23G= (n.256+23G=) c.36+23G= c.249+23G= | |
2 | g.32064269G>T | CA2658519988 | SPAST | c.415+23G>T (n.415+23G>T) c.299+23G>T c.285+23G>T c.157+23G>T (n.157+23G>T) c.291+23G>T c.256+23G>T (n.256+23G>T) c.36+23G>T c.249+23G>T | gnomAD v4 |
2 | g.32064272_32064298del | CA2658519986 | SPAST | c.415+26_415+52del (n.415+26_415+52del) c.299+26_299+52del c.285+26_285+52del c.157+26_157+52del (n.157+26_157+52del) c.291+26_291+52del c.256+26_256+52del (n.256+26_256+52del) c.36+26_36+52del c.249+26_249+52del | gnomAD v4 |
2 | g.32064270G>A | CA2658519990 | SPAST | c.415+24G>A (n.415+24G>A) c.299+24G>A c.285+24G>A c.157+24G>A (n.157+24G>A) c.291+24G>A c.256+24G>A (n.256+24G>A) c.36+24G>A c.249+24G>A | gnomAD v4 |
2 | g.32064270G>T | CA2658519989 | SPAST | c.415+24G>T (n.415+24G>T) c.299+24G>T c.285+24G>T c.157+24G>T (n.157+24G>T) c.291+24G>T c.256+24G>T (n.256+24G>T) c.36+24G>T c.249+24G>T | gnomAD v4 |
2 | g.32064274_32064279dup | CA767739279 | SPAST | c.415+28_415+33dup (n.415+28_415+33dup) c.299+28_299+33dup c.285+28_285+33dup c.157+28_157+33dup (n.157+28_157+33dup) c.291+28_291+33dup c.256+28_256+33dup (n.256+28_256+33dup) c.36+28_36+33dup c.249+28_249+33dup | dbSNP gnomAD v4 |
2 | g.32064277_32064279del | CA2576929949 | SPAST | c.415+31_415+33del (n.415+31_415+33del) c.299+31_299+33del c.285+31_285+33del c.157+31_157+33del (n.157+31_157+33del) c.291+31_291+33del c.256+31_256+33del (n.256+31_256+33del) c.36+31_36+33del c.249+31_249+33del | gnomAD v4 |
2 | g.32064274_32064279del | CA2576929948 | SPAST | c.415+28_415+33del (n.415+28_415+33del) c.299+28_299+33del c.285+28_285+33del c.157+28_157+33del (n.157+28_157+33del) c.291+28_291+33del c.256+28_256+33del (n.256+28_256+33del) c.36+28_36+33del c.249+28_249+33del | gnomAD v4 |
2 | g.32064272_32064297del | CA2658519991 | SPAST | c.415+26_415+51del (n.415+26_415+51del) c.299+26_299+51del c.285+26_285+51del c.157+26_157+51del (n.157+26_157+51del) c.291+26_291+51del c.256+26_256+51del (n.256+26_256+51del) c.36+26_36+51del c.249+26_249+51del | gnomAD v4 |
2 | g.32064271G>A | CA45201415 | SPAST | c.415+25G>A (n.415+25G>A) c.299+25G>A c.285+25G>A c.157+25G>A (n.157+25G>A) c.291+25G>A c.256+25G>A (n.256+25G>A) c.36+25G>A c.249+25G>A | dbSNP gnomAD v4 |
2 | g.32064271G>C | CA2658519997 | SPAST | c.415+25G>C (n.415+25G>C) c.299+25G>C c.285+25G>C c.157+25G>C (n.157+25G>C) c.291+25G>C c.256+25G>C (n.256+25G>C) c.36+25G>C c.249+25G>C | gnomAD v4 |
2 | g.32064271G= | CA1242461852 | SPAST | c.415+25G= (n.415+25G=) c.299+25G= c.285+25G= c.157+25G= (n.157+25G=) c.291+25G= c.256+25G= (n.256+25G=) c.36+25G= c.249+25G= | |
2 | g.32064271G>T | CA2658519998 | SPAST | c.415+25G>T (n.415+25G>T) c.299+25G>T c.285+25G>T c.157+25G>T (n.157+25G>T) c.291+25G>T c.256+25G>T (n.256+25G>T) c.36+25G>T c.249+25G>T | gnomAD v4 |
2 | g.32064272_32064273del | CA2658519992 | SPAST | c.415+26_415+27del (n.415+26_415+27del) c.299+26_299+27del c.285+26_285+27del c.157+26_157+27del (n.157+26_157+27del) c.291+26_291+27del c.256+26_256+27del (n.256+26_256+27del) c.36+26_36+27del c.249+26_249+27del | gnomAD v4 |
2 | g.32064272_32064276del | CA2658519993 | SPAST | c.415+26_415+30del (n.415+26_415+30del) c.299+26_299+30del c.285+26_285+30del c.157+26_157+30del (n.157+26_157+30del) c.291+26_291+30del c.256+26_256+30del (n.256+26_256+30del) c.36+26_36+30del c.249+26_249+30del | gnomAD v4 |
2 | g.32064272_32064282del | CA2658519994 | SPAST | c.415+26_415+36del (n.415+26_415+36del) c.299+26_299+36del c.285+26_285+36del c.157+26_157+36del (n.157+26_157+36del) c.291+26_291+36del c.256+26_256+36del (n.256+26_256+36del) c.36+26_36+36del c.249+26_249+36del | gnomAD v4 |
2 | g.32064272_32064293del | CA2658519995 | SPAST | c.415+26_415+47del (n.415+26_415+47del) c.299+26_299+47del c.285+26_285+47del c.157+26_157+47del (n.157+26_157+47del) c.291+26_291+47del c.256+26_256+47del (n.256+26_256+47del) c.36+26_36+47del c.249+26_249+47del | gnomAD v4 |
2 | g.32064271_32064314del | CA2658519996 | SPAST | c.415+25_415+68del (n.415+25_415+68del) c.299+25_299+68del c.285+25_285+68del c.157+25_157+68del (n.157+25_157+68del) c.291+25_291+68del c.256+25_256+68del (n.256+25_256+68del) c.36+25_36+68del c.249+25_249+68del | gnomAD v4 |
2 | g.32064272del | CA2658520007 | SPAST | c.415+26del (n.415+26del) c.299+26del c.285+26del c.157+26del (n.157+26del) c.291+26del c.256+26del (n.256+26del) c.36+26del c.249+26del | gnomAD v4 |
2 | g.32064272C>A | CA2658520001 | SPAST | c.415+26C>A (n.415+26C>A) c.299+26C>A c.285+26C>A c.157+26C>A (n.157+26C>A) c.291+26C>A c.256+26C>A (n.256+26C>A) c.36+26C>A c.249+26C>A | gnomAD v4 |
2 | g.32064272C>G | CA1028990169 | SPAST | c.415+26C>G (n.415+26C>G) c.299+26C>G c.285+26C>G c.157+26C>G (n.157+26C>G) c.291+26C>G c.256+26C>G (n.256+26C>G) c.36+26C>G c.249+26C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064272C>T | CA2658520000 | SPAST | c.415+26C>T (n.415+26C>T) c.299+26C>T c.285+26C>T c.157+26C>T (n.157+26C>T) c.291+26C>T c.256+26C>T (n.256+26C>T) c.36+26C>T c.249+26C>T | gnomAD v4 |
2 | g.32064272_32064278del | CA2658520006 | SPAST | c.415+26_415+32del (n.415+26_415+32del) c.299+26_299+32del c.285+26_285+32del c.157+26_157+32del (n.157+26_157+32del) c.291+26_291+32del c.256+26_256+32del (n.256+26_256+32del) c.36+26_36+32del c.249+26_249+32del | gnomAD v4 |
2 | g.32064279_32064280insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG | CA2658520008 | SPAST | c.415+33_415+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG (n.415+33_415+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG) c.299+33_299+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG c.285+33_285+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG c.157+33_157+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG (n.157+33_157+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG) c.291+33_291+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG c.256+33_256+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG (n.256+33_256+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG) c.36+33_36+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG c.249+33_249+34insGCAGTGAGAGCTGTGAATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCG | gnomAD v4 |
2 | g.32064272_32064281del | CA2658520005 | SPAST | c.415+26_415+35del (n.415+26_415+35del) c.299+26_299+35del c.285+26_285+35del c.157+26_157+35del (n.157+26_157+35del) c.291+26_291+35del c.256+26_256+35del (n.256+26_256+35del) c.36+26_36+35del c.249+26_249+35del | gnomAD v4 |
2 | g.32064272_32064292del | CA2658520004 | SPAST | c.415+26_415+46del (n.415+26_415+46del) c.299+26_299+46del c.285+26_285+46del c.157+26_157+46del (n.157+26_157+46del) c.291+26_291+46del c.256+26_256+46del (n.256+26_256+46del) c.36+26_36+46del c.249+26_249+46del | gnomAD v4 |
2 | g.32064272_32064295del | CA2658520003 | SPAST | c.415+26_415+49del (n.415+26_415+49del) c.299+26_299+49del c.285+26_285+49del c.157+26_157+49del (n.157+26_157+49del) c.291+26_291+49del c.256+26_256+49del (n.256+26_256+49del) c.36+26_36+49del c.249+26_249+49del | gnomAD v4 |
2 | g.32064273_32064333del | CA2658519999 | SPAST | c.415+27_415+87del (n.415+27_415+87del) c.299+27_299+87del c.285+27_285+87del c.157+27_157+87del (n.157+27_157+87del) c.291+27_291+87del c.256+27_256+87del (n.256+27_256+87del) c.36+27_36+87del c.249+27_249+87del | gnomAD v4 |
2 | g.32064275_32064348del | CA2658520002 | SPAST | c.415+29_415+102del (n.415+29_415+102del) c.299+29_299+102del c.285+29_285+102del c.157+29_157+102del (n.157+29_157+102del) c.291+29_291+102del c.256+29_256+102del (n.256+29_256+102del) c.36+29_36+102del c.249+29_249+102del | gnomAD v4 |
2 | g.32064273G>A | CA2658520012 | SPAST | c.415+27G>A (n.415+27G>A) c.299+27G>A c.285+27G>A c.157+27G>A (n.157+27G>A) c.291+27G>A c.256+27G>A (n.256+27G>A) c.36+27G>A c.249+27G>A | gnomAD v4 |
2 | g.32064273G>C | CA2658520011 | SPAST | c.415+27G>C (n.415+27G>C) c.299+27G>C c.285+27G>C c.157+27G>C (n.157+27G>C) c.291+27G>C c.256+27G>C (n.256+27G>C) c.36+27G>C c.249+27G>C | gnomAD v4 |
2 | g.32064273G>T | CA2658520010 | SPAST | c.415+27G>T (n.415+27G>T) c.299+27G>T c.285+27G>T c.157+27G>T (n.157+27G>T) c.291+27G>T c.256+27G>T (n.256+27G>T) c.36+27G>T c.249+27G>T | gnomAD v4 |
2 | g.32064273_32064274del | CA2658520017 | SPAST | c.415+27_415+28del (n.415+27_415+28del) c.299+27_299+28del c.285+27_285+28del c.157+27_157+28del (n.157+27_157+28del) c.291+27_291+28del c.256+27_256+28del (n.256+27_256+28del) c.36+27_36+28del c.249+27_249+28del | gnomAD v4 |
2 | g.32064274_32064275insGGGGGGGGGGGGG | CA2840092945 | SPAST | c.415+28_415+29insGGGGGGGGGGGGG (n.415+28_415+29insGGGGGGGGGGGGG) c.299+28_299+29insGGGGGGGGGGGGG c.285+28_285+29insGGGGGGGGGGGGG c.157+28_157+29insGGGGGGGGGGGGG (n.157+28_157+29insGGGGGGGGGGGGG) c.291+28_291+29insGGGGGGGGGGGGG c.256+28_256+29insGGGGGGGGGGGGG (n.256+28_256+29insGGGGGGGGGGGGG) c.36+28_36+29insGGGGGGGGGGGGG c.249+28_249+29insGGGGGGGGGGGGG | |
2 | g.32064274del | CA2658520018 | SPAST | c.415+28del (n.415+28del) c.299+28del c.285+28del c.157+28del (n.157+28del) c.291+28del c.256+28del (n.256+28del) c.36+28del c.249+28del | gnomAD v4 |
2 | g.32064273_32064277del | CA2658520016 | SPAST | c.415+27_415+31del (n.415+27_415+31del) c.299+27_299+31del c.285+27_285+31del c.157+27_157+31del (n.157+27_157+31del) c.291+27_291+31del c.256+27_256+31del (n.256+27_256+31del) c.36+27_36+31del c.249+27_249+31del | gnomAD v4 |
2 | g.32064273_32064279del | CA2658520015 | SPAST | c.415+27_415+33del (n.415+27_415+33del) c.299+27_299+33del c.285+27_285+33del c.157+27_157+33del (n.157+27_157+33del) c.291+27_291+33del c.256+27_256+33del (n.256+27_256+33del) c.36+27_36+33del c.249+27_249+33del | gnomAD v4 |
2 | g.32064273_32064281delinsGGCGGCGCC | CA1242461853 | SPAST | c.415+27_415+35delinsGGCGGCGCC (n.415+27_415+35delinsGGCGGCGCC) c.299+27_299+35delinsGGCGGCGCC c.285+27_285+35delinsGGCGGCGCC c.157+27_157+35delinsGGCGGCGCC (n.157+27_157+35delinsGGCGGCGCC) c.291+27_291+35delinsGGCGGCGCC c.256+27_256+35delinsGGCGGCGCC (n.256+27_256+35delinsGGCGGCGCC) c.36+27_36+35delinsGGCGGCGCC c.249+27_249+35delinsGGCGGCGCC | |
2 | g.32064273_32064300del | CA2658520009 | SPAST | c.415+27_415+54del (n.415+27_415+54del) c.299+27_299+54del c.285+27_285+54del c.157+27_157+54del (n.157+27_157+54del) c.291+27_291+54del c.256+27_256+54del (n.256+27_256+54del) c.36+27_36+54del c.249+27_249+54del | gnomAD v4 |
2 | g.32064273_32064309del | CA2658520014 | SPAST | c.415+27_415+63del (n.415+27_415+63del) c.299+27_299+63del c.285+27_285+63del c.157+27_157+63del (n.157+27_157+63del) c.291+27_291+63del c.256+27_256+63del (n.256+27_256+63del) c.36+27_36+63del c.249+27_249+63del | gnomAD v4 |
2 | g.32064273_32064345del | CA2658520013 | SPAST | c.415+27_415+99del (n.415+27_415+99del) c.299+27_299+99del c.285+27_285+99del c.157+27_157+99del (n.157+27_157+99del) c.291+27_291+99del c.256+27_256+99del (n.256+27_256+99del) c.36+27_36+99del c.249+27_249+99del | gnomAD v4 |
2 | g.32064274G>A | CA2576929950 | SPAST | c.415+28G>A (n.415+28G>A) c.299+28G>A c.285+28G>A c.157+28G>A (n.157+28G>A) c.291+28G>A c.256+28G>A (n.256+28G>A) c.36+28G>A c.249+28G>A | gnomAD v4 |
2 | g.32064274G>C | CA2658520021 | SPAST | c.415+28G>C (n.415+28G>C) c.299+28G>C c.285+28G>C c.157+28G>C (n.157+28G>C) c.291+28G>C c.256+28G>C (n.256+28G>C) c.36+28G>C c.249+28G>C | gnomAD v4 |
2 | g.32064274G>T | CA2658520020 | SPAST | c.415+28G>T (n.415+28G>T) c.299+28G>T c.285+28G>T c.157+28G>T (n.157+28G>T) c.291+28G>T c.256+28G>T (n.256+28G>T) c.36+28G>T c.249+28G>T | gnomAD v4 |
2 | g.32064275_32064276del | CA2658520025 | SPAST | c.415+29_415+30del (n.415+29_415+30del) c.299+29_299+30del c.285+29_285+30del c.157+29_157+30del (n.157+29_157+30del) c.291+29_291+30del c.256+29_256+30del (n.256+29_256+30del) c.36+29_36+30del c.249+29_249+30del | gnomAD v4 |
2 | g.32064274_32064280del | CA2658520019 | SPAST | c.415+28_415+34del (n.415+28_415+34del) c.299+28_299+34del c.285+28_285+34del c.157+28_157+34del (n.157+28_157+34del) c.291+28_291+34del c.256+28_256+34del (n.256+28_256+34del) c.36+28_36+34del c.249+28_249+34del | gnomAD v4 |
2 | g.32064275_32064282del | CA531769492 | SPAST | c.415+29_415+36del (n.415+29_415+36del) c.299+29_299+36del c.285+29_285+36del c.157+29_157+36del (n.157+29_157+36del) c.291+29_291+36del c.256+29_256+36del (n.256+29_256+36del) c.36+29_36+36del c.249+29_249+36del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064275_32064296del | CA2658520024 | SPAST | c.415+29_415+50del (n.415+29_415+50del) c.299+29_299+50del c.285+29_285+50del c.157+29_157+50del (n.157+29_157+50del) c.291+29_291+50del c.256+29_256+50del (n.256+29_256+50del) c.36+29_36+50del c.249+29_249+50del | gnomAD v4 |
2 | g.32064274_32064303del | CA2658520023 | SPAST | c.415+28_415+57del (n.415+28_415+57del) c.299+28_299+57del c.285+28_285+57del c.157+28_157+57del (n.157+28_157+57del) c.291+28_291+57del c.256+28_256+57del (n.256+28_256+57del) c.36+28_36+57del c.249+28_249+57del | gnomAD v4 |
2 | g.32064275_32064305del | CA2658520022 | SPAST | c.415+29_415+59del (n.415+29_415+59del) c.299+29_299+59del c.285+29_285+59del c.157+29_157+59del (n.157+29_157+59del) c.291+29_291+59del c.256+29_256+59del (n.256+29_256+59del) c.36+29_36+59del c.249+29_249+59del | gnomAD v4 |
2 | g.32064275del | CA2658520026 | SPAST | c.415+29del (n.415+29del) c.299+29del c.285+29del c.157+29del (n.157+29del) c.291+29del c.256+29del (n.256+29del) c.36+29del c.249+29del | gnomAD v4 |
2 | g.32064275C>A | CA1242461855 | SPAST | c.415+29C>A (n.415+29C>A) c.299+29C>A c.285+29C>A c.157+29C>A (n.157+29C>A) c.291+29C>A c.256+29C>A (n.256+29C>A) c.36+29C>A c.249+29C>A | dbSNP gnomAD v4 |
2 | g.32064275C= | CA1242461854 | SPAST | c.415+29C= (n.415+29C=) c.299+29C= c.285+29C= c.157+29C= (n.157+29C=) c.291+29C= c.256+29C= (n.256+29C=) c.36+29C= c.249+29C= | |
2 | g.32064275C>G | CA1028990173 | SPAST | c.415+29C>G (n.415+29C>G) c.299+29C>G c.285+29C>G c.157+29C>G (n.157+29C>G) c.291+29C>G c.256+29C>G (n.256+29C>G) c.36+29C>G c.249+29C>G | gnomAD v3 gnomAD v4 |
2 | g.32064275C>T | CA2576929951 | SPAST | c.415+29C>T (n.415+29C>T) c.299+29C>T c.285+29C>T c.157+29C>T (n.157+29C>T) c.291+29C>T c.256+29C>T (n.256+29C>T) c.36+29C>T c.249+29C>T | gnomAD v4 |
2 | g.32064275_32064278del | CA2658520027 | SPAST | c.415+29_415+32del (n.415+29_415+32del) c.299+29_299+32del c.285+29_285+32del c.157+29_157+32del (n.157+29_157+32del) c.291+29_291+32del c.256+29_256+32del (n.256+29_256+32del) c.36+29_36+32del c.249+29_249+32del | gnomAD v4 |
2 | g.32064275_32064281del | CA2658520028 | SPAST | c.415+29_415+35del (n.415+29_415+35del) c.299+29_299+35del c.285+29_285+35del c.157+29_157+35del (n.157+29_157+35del) c.291+29_291+35del c.256+29_256+35del (n.256+29_256+35del) c.36+29_36+35del c.249+29_249+35del | gnomAD v4 |
2 | g.32064275_32064295del | CA2658520029 | SPAST | c.415+29_415+49del (n.415+29_415+49del) c.299+29_299+49del c.285+29_285+49del c.157+29_157+49del (n.157+29_157+49del) c.291+29_291+49del c.256+29_256+49del (n.256+29_256+49del) c.36+29_36+49del c.249+29_249+49del | gnomAD v4 |
2 | g.32064276G>A | CA1242461857 | SPAST | c.415+30G>A (n.415+30G>A) c.299+30G>A c.285+30G>A c.157+30G>A (n.157+30G>A) c.291+30G>A c.256+30G>A (n.256+30G>A) c.36+30G>A c.249+30G>A | dbSNP gnomAD v4 |
2 | g.32064276G>C | CA2658520030 | SPAST | c.415+30G>C (n.415+30G>C) c.299+30G>C c.285+30G>C c.157+30G>C (n.157+30G>C) c.291+30G>C c.256+30G>C (n.256+30G>C) c.36+30G>C c.249+30G>C | gnomAD v4 |
2 | g.32064276G= | CA1242461856 | SPAST | c.415+30G= (n.415+30G=) c.299+30G= c.285+30G= c.157+30G= (n.157+30G=) c.291+30G= c.256+30G= (n.256+30G=) c.36+30G= c.249+30G= | |
2 | g.32064276G>T | CA2658520031 | SPAST | c.415+30G>T (n.415+30G>T) c.299+30G>T c.285+30G>T c.157+30G>T (n.157+30G>T) c.291+30G>T c.256+30G>T (n.256+30G>T) c.36+30G>T c.249+30G>T | gnomAD v4 |
2 | g.32064276_32064277insCGGGGAAGAGGGGGACTGGGGGGGCGGGG | CA2658520032 | SPAST | c.415+30_415+31insCGGGGAAGAGGGGGACTGGGGGGGCGGGG (n.415+30_415+31insCGGGGAAGAGGGGGACTGGGGGGGCGGGG) c.299+30_299+31insCGGGGAAGAGGGGGACTGGGGGGGCGGGG c.285+30_285+31insCGGGGAAGAGGGGGACTGGGGGGGCGGGG c.157+30_157+31insCGGGGAAGAGGGGGACTGGGGGGGCGGGG (n.157+30_157+31insCGGGGAAGAGGGGGACTGGGGGGGCGGGG) c.291+30_291+31insCGGGGAAGAGGGGGACTGGGGGGGCGGGG c.256+30_256+31insCGGGGAAGAGGGGGACTGGGGGGGCGGGG (n.256+30_256+31insCGGGGAAGAGGGGGACTGGGGGGGCGGGG) c.36+30_36+31insCGGGGAAGAGGGGGACTGGGGGGGCGGGG c.249+30_249+31insCGGGGAAGAGGGGGACTGGGGGGGCGGGG | gnomAD v4 |
2 | g.32064276_32064277insCGGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGG | CA2658520035 | SPAST | c.415+30_415+31insCGGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGG (n.415+30_415+31insCGGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGG) c.299+30_299+31insCGGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGG c.285+30_285+31insCGGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGG c.157+30_157+31insCGGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGG (n.157+30_157+31insCGGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGG) c.291+30_291+31insCGGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGG c.256+30_256+31insCGGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGG (n.256+30_256+31insCGGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGG) c.36+30_36+31insCGGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGG c.249+30_249+31insCGGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
2 | g.32064277del | CA2658520034 | SPAST | c.415+31del (n.415+31del) c.299+31del c.285+31del c.157+31del (n.157+31del) c.291+31del c.256+31del (n.256+31del) c.36+31del c.249+31del | gnomAD v4 |
2 | g.32064276_32064279del | CA2658520033 | SPAST | c.415+30_415+33del (n.415+30_415+33del) c.299+30_299+33del c.285+30_285+33del c.157+30_157+33del (n.157+30_157+33del) c.291+30_291+33del c.256+30_256+33del (n.256+30_256+33del) c.36+30_36+33del c.249+30_249+33del | gnomAD v4 |
2 | g.32064276_32064300del | CA2658520036 | SPAST | c.415+30_415+54del (n.415+30_415+54del) c.299+30_299+54del c.285+30_285+54del c.157+30_157+54del (n.157+30_157+54del) c.291+30_291+54del c.256+30_256+54del (n.256+30_256+54del) c.36+30_36+54del c.249+30_249+54del | gnomAD v4 |
2 | g.32064277G>A | CA2576929952 | SPAST | c.415+31G>A (n.415+31G>A) c.299+31G>A c.285+31G>A c.157+31G>A (n.157+31G>A) c.291+31G>A c.256+31G>A (n.256+31G>A) c.36+31G>A c.249+31G>A | gnomAD v4 |
2 | g.32064277G>C | CA2658520042 | SPAST | c.415+31G>C (n.415+31G>C) c.299+31G>C c.285+31G>C c.157+31G>C (n.157+31G>C) c.291+31G>C c.256+31G>C (n.256+31G>C) c.36+31G>C c.249+31G>C | gnomAD v4 |
2 | g.32064277G>T | CA2658520043 | SPAST | c.415+31G>T (n.415+31G>T) c.299+31G>T c.285+31G>T c.157+31G>T (n.157+31G>T) c.291+31G>T c.256+31G>T (n.256+31G>T) c.36+31G>T c.249+31G>T | gnomAD v4 |
2 | g.32064277_32064278delinsGC | CA1242461858 | SPAST | c.415+31_415+32delinsGC (n.415+31_415+32delinsGC) c.299+31_299+32delinsGC c.285+31_285+32delinsGC c.157+31_157+32delinsGC (n.157+31_157+32delinsGC) c.291+31_291+32delinsGC c.256+31_256+32delinsGC (n.256+31_256+32delinsGC) c.36+31_36+32delinsGC c.249+31_249+32delinsGC | |
2 | g.32064277_32064280del | CA2658520037 | SPAST | c.415+31_415+34del (n.415+31_415+34del) c.299+31_299+34del c.285+31_285+34del c.157+31_157+34del (n.157+31_157+34del) c.291+31_291+34del c.256+31_256+34del (n.256+31_256+34del) c.36+31_36+34del c.249+31_249+34del | gnomAD v4 |
2 | g.32064278_32064282del | CA2658520038 | SPAST | c.415+32_415+36del (n.415+32_415+36del) c.299+32_299+36del c.285+32_285+36del c.157+32_157+36del (n.157+32_157+36del) c.291+32_291+36del c.256+32_256+36del (n.256+32_256+36del) c.36+32_36+36del c.249+32_249+36del | gnomAD v4 |
2 | g.32064278_32064296del | CA2658520039 | SPAST | c.415+32_415+50del (n.415+32_415+50del) c.299+32_299+50del c.285+32_285+50del c.157+32_157+50del (n.157+32_157+50del) c.291+32_291+50del c.256+32_256+50del (n.256+32_256+50del) c.36+32_36+50del c.249+32_249+50del | gnomAD v4 |
2 | g.32064277_32064303del | CA2658520040 | SPAST | c.415+31_415+57del (n.415+31_415+57del) c.299+31_299+57del c.285+31_285+57del c.157+31_157+57del (n.157+31_157+57del) c.291+31_291+57del c.256+31_256+57del (n.256+31_256+57del) c.36+31_36+57del c.249+31_249+57del | gnomAD v4 |
2 | g.32064278_32064305del | CA2658520041 | SPAST | c.415+32_415+59del (n.415+32_415+59del) c.299+32_299+59del c.285+32_285+59del c.157+32_157+59del (n.157+32_157+59del) c.291+32_291+59del c.256+32_256+59del (n.256+32_256+59del) c.36+32_36+59del c.249+32_249+59del | gnomAD v4 |
2 | g.32064277_32064278insGGGGGGGGGGGGGGGC | CA2658520049 | SPAST | c.415+31_415+32insGGGGGGGGGGGGGGGC (n.415+31_415+32insGGGGGGGGGGGGGGGC) c.299+31_299+32insGGGGGGGGGGGGGGGC c.285+31_285+32insGGGGGGGGGGGGGGGC c.157+31_157+32insGGGGGGGGGGGGGGGC (n.157+31_157+32insGGGGGGGGGGGGGGGC) c.291+31_291+32insGGGGGGGGGGGGGGGC c.256+31_256+32insGGGGGGGGGGGGGGGC (n.256+31_256+32insGGGGGGGGGGGGGGGC) c.36+31_36+32insGGGGGGGGGGGGGGGC c.249+31_249+32insGGGGGGGGGGGGGGGC | gnomAD v4 |
2 | g.32064278del | CA1242461860 | SPAST | c.415+32del (n.415+32del) c.299+32del c.285+32del c.157+32del (n.157+32del) c.291+32del c.256+32del (n.256+32del) c.36+32del c.249+32del | dbSNP gnomAD v4 |
2 | g.32064278C>A | CA2658520044 | SPAST | c.415+32C>A (n.415+32C>A) c.299+32C>A c.285+32C>A c.157+32C>A (n.157+32C>A) c.291+32C>A c.256+32C>A (n.256+32C>A) c.36+32C>A c.249+32C>A | gnomAD v4 |
2 | g.32064278C= | CA1242461859 | SPAST | c.415+32C= (n.415+32C=) c.299+32C= c.285+32C= c.157+32C= (n.157+32C=) c.291+32C= c.256+32C= (n.256+32C=) c.36+32C= c.249+32C= | |
2 | g.32064278C>G | CA2658520045 | SPAST | c.415+32C>G (n.415+32C>G) c.299+32C>G c.285+32C>G c.157+32C>G (n.157+32C>G) c.291+32C>G c.256+32C>G (n.256+32C>G) c.36+32C>G c.249+32C>G | gnomAD v4 |
2 | g.32064278C>T | CA1242461861 | SPAST | c.415+32C>T (n.415+32C>T) c.299+32C>T c.285+32C>T c.157+32C>T (n.157+32C>T) c.291+32C>T c.256+32C>T (n.256+32C>T) c.36+32C>T c.249+32C>T | dbSNP gnomAD v4 |
2 | g.32064278_32064281del | CA2658520048 | SPAST | c.415+32_415+35del (n.415+32_415+35del) c.299+32_299+35del c.285+32_285+35del c.157+32_157+35del (n.157+32_157+35del) c.291+32_291+35del c.256+32_256+35del (n.256+32_256+35del) c.36+32_36+35del c.249+32_249+35del | gnomAD v4 |
2 | g.32064280_32064282del | CA2658520047 | SPAST | c.415+34_415+36del (n.415+34_415+36del) c.299+34_299+36del c.285+34_285+36del c.157+34_157+36del (n.157+34_157+36del) c.291+34_291+36del c.256+34_256+36del (n.256+34_256+36del) c.36+34_36+36del c.249+34_249+36del | gnomAD v4 |
2 | g.32064278_32064295del | CA2658520046 | SPAST | c.415+32_415+49del (n.415+32_415+49del) c.299+32_299+49del c.285+32_285+49del c.157+32_157+49del (n.157+32_157+49del) c.291+32_291+49del c.256+32_256+49del (n.256+32_256+49del) c.36+32_36+49del c.249+32_249+49del | gnomAD v4 |
2 | g.32064278_32064304del | CA2840092946 | SPAST | c.415+32_415+58del (n.415+32_415+58del) c.299+32_299+58del c.285+32_285+58del c.157+32_157+58del (n.157+32_157+58del) c.291+32_291+58del c.256+32_256+58del (n.256+32_256+58del) c.36+32_36+58del c.249+32_249+58del | |
2 | g.32064285_32064307del | CA2595218024 | SPAST | c.415+39_415+61del (n.415+39_415+61del) c.299+39_299+61del c.285+39_285+61del c.157+39_157+61del (n.157+39_157+61del) c.291+39_291+61del c.256+39_256+61del (n.256+39_256+61del) c.36+39_36+61del c.249+39_249+61del | gnomAD v3 gnomAD v4 |
2 | g.32064279del | CA2658520050 | SPAST | c.415+33del (n.415+33del) c.299+33del c.285+33del c.157+33del (n.157+33del) c.291+33del c.256+33del (n.256+33del) c.36+33del c.249+33del | gnomAD v4 |
2 | g.32064279G>A | CA2576929953 | SPAST | c.415+33G>A (n.415+33G>A) c.299+33G>A c.285+33G>A c.157+33G>A (n.157+33G>A) c.291+33G>A c.256+33G>A (n.256+33G>A) c.36+33G>A c.249+33G>A | gnomAD v4 |
2 | g.32064279G>C | CA2658520053 | SPAST | c.415+33G>C (n.415+33G>C) c.299+33G>C c.285+33G>C c.157+33G>C (n.157+33G>C) c.291+33G>C c.256+33G>C (n.256+33G>C) c.36+33G>C c.249+33G>C | gnomAD v4 |
2 | g.32064279G= | CA1242461862 | SPAST | c.415+33G= (n.415+33G=) c.299+33G= c.285+33G= c.157+33G= (n.157+33G=) c.291+33G= c.256+33G= (n.256+33G=) c.36+33G= c.249+33G= | |
2 | g.32064279G>T | CA1600567 | SPAST | c.415+33G>T (n.415+33G>T) c.299+33G>T c.285+33G>T c.157+33G>T (n.157+33G>T) c.291+33G>T c.256+33G>T (n.256+33G>T) c.36+33G>T c.249+33G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064279_32064284del | CA2658520051 | SPAST | c.415+33_415+38del (n.415+33_415+38del) c.299+33_299+38del c.285+33_285+38del c.157+33_157+38del (n.157+33_157+38del) c.291+33_291+38del c.256+33_256+38del (n.256+33_256+38del) c.36+33_36+38del c.249+33_249+38del | gnomAD v4 |
2 | g.32064280_32064290del | CA2658520052 | SPAST | c.415+34_415+44del (n.415+34_415+44del) c.299+34_299+44del c.285+34_285+44del c.157+34_157+44del (n.157+34_157+44del) c.291+34_291+44del c.256+34_256+44del (n.256+34_256+44del) c.36+34_36+44del c.249+34_249+44del | gnomAD v4 |
2 | g.32064279_32064280insGC | CA2658520067 | SPAST | c.415+33_415+34insGC (n.415+33_415+34insGC) c.299+33_299+34insGC c.285+33_285+34insGC c.157+33_157+34insGC (n.157+33_157+34insGC) c.291+33_291+34insGC c.256+33_256+34insGC (n.256+33_256+34insGC) c.36+33_36+34insGC c.249+33_249+34insGC | gnomAD v4 |
2 | g.32064279_32064280insGGCAA | CA2658520064 | SPAST | c.415+33_415+34insGGCAA (n.415+33_415+34insGGCAA) c.299+33_299+34insGGCAA c.285+33_285+34insGGCAA c.157+33_157+34insGGCAA (n.157+33_157+34insGGCAA) c.291+33_291+34insGGCAA c.256+33_256+34insGGCAA (n.256+33_256+34insGGCAA) c.36+33_36+34insGGCAA c.249+33_249+34insGGCAA | gnomAD v4 |
2 | g.32064279_32064280insGGGGGC | CA2658520063 | SPAST | c.415+33_415+34insGGGGGC (n.415+33_415+34insGGGGGC) c.299+33_299+34insGGGGGC c.285+33_285+34insGGGGGC c.157+33_157+34insGGGGGC (n.157+33_157+34insGGGGGC) c.291+33_291+34insGGGGGC c.256+33_256+34insGGGGGC (n.256+33_256+34insGGGGGC) c.36+33_36+34insGGGGGC c.249+33_249+34insGGGGGC | gnomAD v4 |
2 | g.32064279_32064280insGGGGGGC | CA2658520061 | SPAST | c.415+33_415+34insGGGGGGC (n.415+33_415+34insGGGGGGC) c.299+33_299+34insGGGGGGC c.285+33_285+34insGGGGGGC c.157+33_157+34insGGGGGGC (n.157+33_157+34insGGGGGGC) c.291+33_291+34insGGGGGGC c.256+33_256+34insGGGGGGC (n.256+33_256+34insGGGGGGC) c.36+33_36+34insGGGGGGC c.249+33_249+34insGGGGGGC | gnomAD v4 |
2 | g.32064279_32064280insGGGGGGGC | CA2658520062 | SPAST | c.415+33_415+34insGGGGGGGC (n.415+33_415+34insGGGGGGGC) c.299+33_299+34insGGGGGGGC c.285+33_285+34insGGGGGGGC c.157+33_157+34insGGGGGGGC (n.157+33_157+34insGGGGGGGC) c.291+33_291+34insGGGGGGGC c.256+33_256+34insGGGGGGGC (n.256+33_256+34insGGGGGGGC) c.36+33_36+34insGGGGGGGC c.249+33_249+34insGGGGGGGC | gnomAD v4 |
2 | g.32064279_32064280insGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGGGGC | CA2658520065 | SPAST | c.415+33_415+34insGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.415+33_415+34insGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.299+33_299+34insGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGGGGC c.285+33_285+34insGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGGGGC c.157+33_157+34insGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.157+33_157+34insGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.291+33_291+34insGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGGGGC c.256+33_256+34insGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.256+33_256+34insGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.36+33_36+34insGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGGGGC c.249+33_249+34insGGAAAAAGGGGGGGGGGGGGGGGGGGGGGGGGGC | gnomAD v4 |
2 | g.32064280C>A | CA2658520059 | SPAST | c.415+34C>A (n.415+34C>A) c.299+34C>A c.285+34C>A c.157+34C>A (n.157+34C>A) c.291+34C>A c.256+34C>A (n.256+34C>A) c.36+34C>A c.249+34C>A | gnomAD v4 |
2 | g.32064280C>G | CA2658520060 | SPAST | c.415+34C>G (n.415+34C>G) c.299+34C>G c.285+34C>G c.157+34C>G (n.157+34C>G) c.291+34C>G c.256+34C>G (n.256+34C>G) c.36+34C>G c.249+34C>G | gnomAD v4 |
2 | g.32064280C>T | CA2658520054 | SPAST | c.415+34C>T (n.415+34C>T) c.299+34C>T c.285+34C>T c.157+34C>T (n.157+34C>T) c.291+34C>T c.256+34C>T (n.256+34C>T) c.36+34C>T c.249+34C>T | gnomAD v4 |
2 | g.32064280_32064281del | CA2658520055 | SPAST | c.415+34_415+35del (n.415+34_415+35del) c.299+34_299+35del c.285+34_285+35del c.157+34_157+35del (n.157+34_157+35del) c.291+34_291+35del c.256+34_256+35del (n.256+34_256+35del) c.36+34_36+35del c.249+34_249+35del | gnomAD v4 |
2 | g.32064281dup | CA2658520068 | SPAST | c.415+35dup (n.415+35dup) c.299+35dup c.285+35dup c.157+35dup (n.157+35dup) c.291+35dup c.256+35dup (n.256+35dup) c.36+35dup c.249+35dup | gnomAD v4 |
2 | g.32064281del | CA2658520066 | SPAST | c.415+35del (n.415+35del) c.299+35del c.285+35del c.157+35del (n.157+35del) c.291+35del c.256+35del (n.256+35del) c.36+35del c.249+35del | gnomAD v4 |
2 | g.32064280_32064289del | CA2658520056 | SPAST | c.415+34_415+43del (n.415+34_415+43del) c.299+34_299+43del c.285+34_285+43del c.157+34_157+43del (n.157+34_157+43del) c.291+34_291+43del c.256+34_256+43del (n.256+34_256+43del) c.36+34_36+43del c.249+34_249+43del | gnomAD v4 |
2 | g.32064280_32064304del | CA2658520058 | SPAST | c.415+34_415+58del (n.415+34_415+58del) c.299+34_299+58del c.285+34_285+58del c.157+34_157+58del (n.157+34_157+58del) c.291+34_291+58del c.256+34_256+58del (n.256+34_256+58del) c.36+34_36+58del c.249+34_249+58del | gnomAD v4 |
2 | g.32064281_32064304del | CA2658520057 | SPAST | c.415+35_415+58del (n.415+35_415+58del) c.299+35_299+58del c.285+35_285+58del c.157+35_157+58del (n.157+35_157+58del) c.291+35_291+58del c.256+35_256+58del (n.256+35_256+58del) c.36+35_36+58del c.249+35_249+58del | gnomAD v4 |
2 | g.32064281C>A | CA2658520070 | SPAST | c.415+35C>A (n.415+35C>A) c.299+35C>A c.285+35C>A c.157+35C>A (n.157+35C>A) c.291+35C>A c.256+35C>A (n.256+35C>A) c.36+35C>A c.249+35C>A | gnomAD v4 |
2 | g.32064281C= | CA1242461863 | SPAST | c.415+35C= (n.415+35C=) c.299+35C= c.285+35C= c.157+35C= (n.157+35C=) c.291+35C= c.256+35C= (n.256+35C=) c.36+35C= c.249+35C= | |
2 | g.32064281C>G | CA531769493 | SPAST | c.415+35C>G (n.415+35C>G) c.299+35C>G c.285+35C>G c.157+35C>G (n.157+35C>G) c.291+35C>G c.256+35C>G (n.256+35C>G) c.36+35C>G c.249+35C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064281C>T | CA2658520069 | SPAST | c.415+35C>T (n.415+35C>T) c.299+35C>T c.285+35C>T c.157+35C>T (n.157+35C>T) c.291+35C>T c.256+35C>T (n.256+35C>T) c.36+35C>T c.249+35C>T | gnomAD v4 |
2 | g.32064281_32064282insAC | CA2658520072 | SPAST | c.415+35_415+36insAC (n.415+35_415+36insAC) c.299+35_299+36insAC c.285+35_285+36insAC c.157+35_157+36insAC (n.157+35_157+36insAC) c.291+35_291+36insAC c.256+35_256+36insAC (n.256+35_256+36insAC) c.36+35_36+36insAC c.249+35_249+36insAC | gnomAD v4 |
2 | g.32064281_32064295del | CA2658520071 | SPAST | c.415+35_415+49del (n.415+35_415+49del) c.299+35_299+49del c.285+35_285+49del c.157+35_157+49del (n.157+35_157+49del) c.291+35_291+49del c.256+35_256+49del (n.256+35_256+49del) c.36+35_36+49del c.249+35_249+49del | gnomAD v4 |
2 | g.32064281_32064282insCG | CA2749388914 | SPAST | c.415+35_415+36insCG (n.415+35_415+36insCG) c.299+35_299+36insCG c.285+35_285+36insCG c.157+35_157+36insCG (n.157+35_157+36insCG) c.291+35_291+36insCG c.256+35_256+36insCG (n.256+35_256+36insCG) c.36+35_36+36insCG c.249+35_249+36insCG | |
2 | g.32064282G>A | CA1242461865 | SPAST | c.415+36G>A (n.415+36G>A) c.299+36G>A c.285+36G>A c.157+36G>A (n.157+36G>A) c.291+36G>A c.256+36G>A (n.256+36G>A) c.36+36G>A c.249+36G>A | dbSNP gnomAD v4 |
2 | g.32064282G>C | CA531769494 | SPAST | c.415+36G>C (n.415+36G>C) c.299+36G>C c.285+36G>C c.157+36G>C (n.157+36G>C) c.291+36G>C c.256+36G>C (n.256+36G>C) c.36+36G>C c.249+36G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064282G= | CA1242461864 | SPAST | c.415+36G= (n.415+36G=) c.299+36G= c.285+36G= c.157+36G= (n.157+36G=) c.291+36G= c.256+36G= (n.256+36G=) c.36+36G= c.249+36G= | |
2 | g.32064282G>T | CA2658520074 | SPAST | c.415+36G>T (n.415+36G>T) c.299+36G>T c.285+36G>T c.157+36G>T (n.157+36G>T) c.291+36G>T c.256+36G>T (n.256+36G>T) c.36+36G>T c.249+36G>T | gnomAD v4 |
2 | g.32064282_32064283insCGG | CA2658520078 | SPAST | c.415+36_415+37insCGG (n.415+36_415+37insCGG) c.299+36_299+37insCGG c.285+36_285+37insCGG c.157+36_157+37insCGG (n.157+36_157+37insCGG) c.291+36_291+37insCGG c.256+36_256+37insCGG (n.256+36_256+37insCGG) c.36+36_36+37insCGG c.249+36_249+37insCGG | gnomAD v4 |
2 | g.32064284dup | CA2658520073 | SPAST | c.415+38dup (n.415+38dup) c.299+38dup c.285+38dup c.157+38dup (n.157+38dup) c.291+38dup c.256+38dup (n.256+38dup) c.36+38dup c.249+38dup | gnomAD v4 |
2 | g.32064282_32064285del | CA2658520077 | SPAST | c.415+36_415+39del (n.415+36_415+39del) c.299+36_299+39del c.285+36_285+39del c.157+36_157+39del (n.157+36_157+39del) c.291+36_291+39del c.256+36_256+39del (n.256+36_256+39del) c.36+36_36+39del c.249+36_249+39del | gnomAD v4 |
2 | g.32064283_32064291del | CA2658520076 | SPAST | c.415+37_415+45del (n.415+37_415+45del) c.299+37_299+45del c.285+37_285+45del c.157+37_157+45del (n.157+37_157+45del) c.291+37_291+45del c.256+37_256+45del (n.256+37_256+45del) c.36+37_36+45del c.249+37_249+45del | gnomAD v4 |
2 | g.32064285_32064298del | CA2535468555 | SPAST | c.415+39_415+52del (n.415+39_415+52del) c.299+39_299+52del c.285+39_285+52del c.157+39_157+52del (n.157+39_157+52del) c.291+39_291+52del c.256+39_256+52del (n.256+39_256+52del) c.36+39_36+52del c.249+39_249+52del | |
2 | g.32064282_32064302del | CA2658520075 | SPAST | c.415+36_415+56del (n.415+36_415+56del) c.299+36_299+56del c.285+36_285+56del c.157+36_157+56del (n.157+36_157+56del) c.291+36_291+56del c.256+36_256+56del (n.256+36_256+56del) c.36+36_36+56del c.249+36_249+56del | gnomAD v4 |
2 | g.32064282_32064283insC | CA2658520079 | SPAST | c.415+36_415+37insC (n.415+36_415+37insC) c.299+36_299+37insC c.285+36_285+37insC c.157+36_157+37insC (n.157+36_157+37insC) c.291+36_291+37insC c.256+36_256+37insC (n.256+36_256+37insC) c.36+36_36+37insC c.249+36_249+37insC | gnomAD v4 |
2 | g.32064283G>A | CA2576929954 | SPAST | c.415+37G>A (n.415+37G>A) c.299+37G>A c.285+37G>A c.157+37G>A (n.157+37G>A) c.291+37G>A c.256+37G>A (n.256+37G>A) c.36+37G>A c.249+37G>A | gnomAD v4 |
2 | g.32064283G>T | CA2658520082 | SPAST | c.415+37G>T (n.415+37G>T) c.299+37G>T c.285+37G>T c.157+37G>T (n.157+37G>T) c.291+37G>T c.256+37G>T (n.256+37G>T) c.36+37G>T c.249+37G>T | gnomAD v4 |
2 | g.32064283_32064303del | CA2658520080 | SPAST | c.415+37_415+57del (n.415+37_415+57del) c.299+37_299+57del c.285+37_285+57del c.157+37_157+57del (n.157+37_157+57del) c.291+37_291+57del c.256+37_256+57del (n.256+37_256+57del) c.36+37_36+57del c.249+37_249+57del | gnomAD v4 |
2 | g.32064285_32064306del | CA2658520081 | SPAST | c.415+39_415+60del (n.415+39_415+60del) c.299+39_299+60del c.285+39_285+60del c.157+39_157+60del (n.157+39_157+60del) c.291+39_291+60del c.256+39_256+60del (n.256+39_256+60del) c.36+39_36+60del c.249+39_249+60del | gnomAD v4 |
2 | g.32064284G>A | CA531769495 | SPAST | c.415+38G>A (n.415+38G>A) c.299+38G>A c.285+38G>A c.157+38G>A (n.157+38G>A) c.291+38G>A c.256+38G>A (n.256+38G>A) c.36+38G>A c.249+38G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064284G>C | CA2658520085 | SPAST | c.415+38G>C (n.415+38G>C) c.299+38G>C c.285+38G>C c.157+38G>C (n.157+38G>C) c.291+38G>C c.256+38G>C (n.256+38G>C) c.36+38G>C c.249+38G>C | gnomAD v4 |
2 | g.32064284G= | CA1242461866 | SPAST | c.415+38G= (n.415+38G=) c.299+38G= c.285+38G= c.157+38G= (n.157+38G=) c.291+38G= c.256+38G= (n.256+38G=) c.36+38G= c.249+38G= | |
2 | g.32064284G>T | CA2658520084 | SPAST | c.415+38G>T (n.415+38G>T) c.299+38G>T c.285+38G>T c.157+38G>T (n.157+38G>T) c.291+38G>T c.256+38G>T (n.256+38G>T) c.36+38G>T c.249+38G>T | gnomAD v4 |
2 | g.32064285_32064302del | CA2658520083 | SPAST | c.415+39_415+56del (n.415+39_415+56del) c.299+39_299+56del c.285+39_285+56del c.157+39_157+56del (n.157+39_157+56del) c.291+39_291+56del c.256+39_256+56del (n.256+39_256+56del) c.36+39_36+56del c.249+39_249+56del | gnomAD v4 |
2 | g.32064284_32064285insC | CA2658520094 | SPAST | c.415+38_415+39insC (n.415+38_415+39insC) c.299+38_299+39insC c.285+38_285+39insC c.157+38_157+39insC (n.157+38_157+39insC) c.291+38_291+39insC c.256+38_256+39insC (n.256+38_256+39insC) c.36+38_36+39insC c.249+38_249+39insC | gnomAD v4 |
2 | g.32064284_32064285insT | CA2658520098 | SPAST | c.415+38_415+39insT (n.415+38_415+39insT) c.299+38_299+39insT c.285+38_285+39insT c.157+38_157+39insT (n.157+38_157+39insT) c.291+38_291+39insT c.256+38_256+39insT (n.256+38_256+39insT) c.36+38_36+39insT c.249+38_249+39insT | gnomAD v4 |
2 | g.32064284_32064285insGA | CA2658520095 | SPAST | c.415+38_415+39insGA (n.415+38_415+39insGA) c.299+38_299+39insGA c.285+38_285+39insGA c.157+38_157+39insGA (n.157+38_157+39insGA) c.291+38_291+39insGA c.256+38_256+39insGA (n.256+38_256+39insGA) c.36+38_36+39insGA c.249+38_249+39insGA | gnomAD v4 |
2 | g.32064284_32064285insGT | CA2658520097 | SPAST | c.415+38_415+39insGT (n.415+38_415+39insGT) c.299+38_299+39insGT c.285+38_285+39insGT c.157+38_157+39insGT (n.157+38_157+39insGT) c.291+38_291+39insGT c.256+38_256+39insGT (n.256+38_256+39insGT) c.36+38_36+39insGT c.249+38_249+39insGT | gnomAD v4 |
2 | g.32064284_32064285insGGGGGGGGGGA | CA2658520096 | SPAST | c.415+38_415+39insGGGGGGGGGGA (n.415+38_415+39insGGGGGGGGGGA) c.299+38_299+39insGGGGGGGGGGA c.285+38_285+39insGGGGGGGGGGA c.157+38_157+39insGGGGGGGGGGA (n.157+38_157+39insGGGGGGGGGGA) c.291+38_291+39insGGGGGGGGGGA c.256+38_256+39insGGGGGGGGGGA (n.256+38_256+39insGGGGGGGGGGA) c.36+38_36+39insGGGGGGGGGGA c.249+38_249+39insGGGGGGGGGGA | gnomAD v4 |
2 | g.32064285A>C | CA2658520087 | SPAST | c.415+39A>C (n.415+39A>C) c.299+39A>C c.285+39A>C c.157+39A>C (n.157+39A>C) c.291+39A>C c.256+39A>C (n.256+39A>C) c.36+39A>C c.249+39A>C | gnomAD v4 |
2 | g.32064285A>G | CA2658520086 | SPAST | c.415+39A>G (n.415+39A>G) c.299+39A>G c.285+39A>G c.157+39A>G (n.157+39A>G) c.291+39A>G c.256+39A>G (n.256+39A>G) c.36+39A>G c.249+39A>G | gnomAD v4 |
2 | g.32064285A>T | CA2576929955 | SPAST | c.415+39A>T (n.415+39A>T) c.299+39A>T c.285+39A>T c.157+39A>T (n.157+39A>T) c.291+39A>T c.256+39A>T (n.256+39A>T) c.36+39A>T c.249+39A>T | gnomAD v4 |
2 | g.32064285_32064286del | CA2658520092 | SPAST | c.415+39_415+40del (n.415+39_415+40del) c.299+39_299+40del c.285+39_285+40del c.157+39_157+40del (n.157+39_157+40del) c.291+39_291+40del c.256+39_256+40del (n.256+39_256+40del) c.36+39_36+40del c.249+39_249+40del | gnomAD v4 |
2 | g.32064286dup | CA531769496 | SPAST | c.415+40dup (n.415+40dup) c.299+40dup c.285+40dup c.157+40dup (n.157+40dup) c.291+40dup c.256+40dup (n.256+40dup) c.36+40dup c.249+40dup | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064285_32064289del | CA2658520093 | SPAST | c.415+39_415+43del (n.415+39_415+43del) c.299+39_299+43del c.285+39_285+43del c.157+39_157+43del (n.157+39_157+43del) c.291+39_291+43del c.256+39_256+43del (n.256+39_256+43del) c.36+39_36+43del c.249+39_249+43del | gnomAD v4 |
2 | g.32064285_32064292del | CA2658520091 | SPAST | c.415+39_415+46del (n.415+39_415+46del) c.299+39_299+46del c.285+39_285+46del c.157+39_157+46del (n.157+39_157+46del) c.291+39_291+46del c.256+39_256+46del (n.256+39_256+46del) c.36+39_36+46del c.249+39_249+46del | gnomAD v4 |
2 | g.32064285_32064295del | CA2658520090 | SPAST | c.415+39_415+49del (n.415+39_415+49del) c.299+39_299+49del c.285+39_285+49del c.157+39_157+49del (n.157+39_157+49del) c.291+39_291+49del c.256+39_256+49del (n.256+39_256+49del) c.36+39_36+49del c.249+39_249+49del | gnomAD v4 |
2 | g.32064285_32064300del | CA2658520089 | SPAST | c.415+39_415+54del (n.415+39_415+54del) c.299+39_299+54del c.285+39_285+54del c.157+39_157+54del (n.157+39_157+54del) c.291+39_291+54del c.256+39_256+54del (n.256+39_256+54del) c.36+39_36+54del c.249+39_249+54del | gnomAD v4 |
2 | g.32064285_32064304del | CA2658520088 | SPAST | c.415+39_415+58del (n.415+39_415+58del) c.299+39_299+58del c.285+39_285+58del c.157+39_157+58del (n.157+39_157+58del) c.291+39_291+58del c.256+39_256+58del (n.256+39_256+58del) c.36+39_36+58del c.249+39_249+58del | gnomAD v4 |
2 | g.32064285_32064286insCC | CA2658520104 | SPAST | c.415+39_415+40insCC (n.415+39_415+40insCC) c.299+39_299+40insCC c.285+39_285+40insCC c.157+39_157+40insCC (n.157+39_157+40insCC) c.291+39_291+40insCC c.256+39_256+40insCC (n.256+39_256+40insCC) c.36+39_36+40insCC c.249+39_249+40insCC | gnomAD v4 |
2 | g.32064285_32064286insTC | CA2658520099 | SPAST | c.415+39_415+40insTC (n.415+39_415+40insTC) c.299+39_299+40insTC c.285+39_285+40insTC c.157+39_157+40insTC (n.157+39_157+40insTC) c.291+39_291+40insTC c.256+39_256+40insTC (n.256+39_256+40insTC) c.36+39_36+40insTC c.249+39_249+40insTC | gnomAD v4 |
2 | g.32064285_32064286insTT | CA2658520100 | SPAST | c.415+39_415+40insTT (n.415+39_415+40insTT) c.299+39_299+40insTT c.285+39_285+40insTT c.157+39_157+40insTT (n.157+39_157+40insTT) c.291+39_291+40insTT c.256+39_256+40insTT (n.256+39_256+40insTT) c.36+39_36+40insTT c.249+39_249+40insTT | gnomAD v4 |
2 | g.32064286A= | CA1242461867 | SPAST | c.415+40A= (n.415+40A=) c.299+40A= c.285+40A= c.157+40A= (n.157+40A=) c.291+40A= c.256+40A= (n.256+40A=) c.36+40A= c.249+40A= | |
2 | g.32064286A>C | CA2576929956 | SPAST | c.415+40A>C (n.415+40A>C) c.299+40A>C c.285+40A>C c.157+40A>C (n.157+40A>C) c.291+40A>C c.256+40A>C (n.256+40A>C) c.36+40A>C c.249+40A>C | gnomAD v4 |
2 | g.32064286A>G | CA531769497 | SPAST | c.415+40A>G (n.415+40A>G) c.299+40A>G c.285+40A>G c.157+40A>G (n.157+40A>G) c.291+40A>G c.256+40A>G (n.256+40A>G) c.36+40A>G c.249+40A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064286A>T | CA2658520105 | SPAST | c.415+40A>T (n.415+40A>T) c.299+40A>T c.285+40A>T c.157+40A>T (n.157+40A>T) c.291+40A>T c.256+40A>T (n.256+40A>T) c.36+40A>T c.249+40A>T | gnomAD v4 |
2 | g.32064286_32064287insCCA | CA2658520101 | SPAST | c.415+40_415+41insCCA (n.415+40_415+41insCCA) c.299+40_299+41insCCA c.285+40_285+41insCCA c.157+40_157+41insCCA (n.157+40_157+41insCCA) c.291+40_291+41insCCA c.256+40_256+41insCCA (n.256+40_256+41insCCA) c.36+40_36+41insCCA c.249+40_249+41insCCA | gnomAD v4 |
2 | g.32064287_32064288del | CA2658520102 | SPAST | c.415+41_415+42del (n.415+41_415+42del) c.299+41_299+42del c.285+41_285+42del c.157+41_157+42del (n.157+41_157+42del) c.291+41_291+42del c.256+41_256+42del (n.256+41_256+42del) c.36+41_36+42del c.249+41_249+42del | gnomAD v4 |
2 | g.32064286_32064300del | CA2658520103 | SPAST | c.415+40_415+54del (n.415+40_415+54del) c.299+40_299+54del c.285+40_285+54del c.157+40_157+54del (n.157+40_157+54del) c.291+40_291+54del c.256+40_256+54del (n.256+40_256+54del) c.36+40_36+54del c.249+40_249+54del | gnomAD v4 |
2 | g.32064286_32064287insC | CA2658520112 | SPAST | c.415+40_415+41insC (n.415+40_415+41insC) c.299+40_299+41insC c.285+40_285+41insC c.157+40_157+41insC (n.157+40_157+41insC) c.291+40_291+41insC c.256+40_256+41insC (n.256+40_256+41insC) c.36+40_36+41insC c.249+40_249+41insC | gnomAD v4 |
2 | g.32064286_32064287insT | CA2658520111 | SPAST | c.415+40_415+41insT (n.415+40_415+41insT) c.299+40_299+41insT c.285+40_285+41insT c.157+40_157+41insT (n.157+40_157+41insT) c.291+40_291+41insT c.256+40_256+41insT (n.256+40_256+41insT) c.36+40_36+41insT c.249+40_249+41insT | gnomAD v4 |
2 | g.32064286_32064287insTAC | CA2658520110 | SPAST | c.415+40_415+41insTAC (n.415+40_415+41insTAC) c.299+40_299+41insTAC c.285+40_285+41insTAC c.157+40_157+41insTAC (n.157+40_157+41insTAC) c.291+40_291+41insTAC c.256+40_256+41insTAC (n.256+40_256+41insTAC) c.36+40_36+41insTAC c.249+40_249+41insTAC | gnomAD v4 |
2 | g.32064286_32064287insAGCAGTCTCCCGGGGCATATCAATTCCGG | CA2658520113 | SPAST | c.415+40_415+41insAGCAGTCTCCCGGGGCATATCAATTCCGG (n.415+40_415+41insAGCAGTCTCCCGGGGCATATCAATTCCGG) c.299+40_299+41insAGCAGTCTCCCGGGGCATATCAATTCCGG c.285+40_285+41insAGCAGTCTCCCGGGGCATATCAATTCCGG c.157+40_157+41insAGCAGTCTCCCGGGGCATATCAATTCCGG (n.157+40_157+41insAGCAGTCTCCCGGGGCATATCAATTCCGG) c.291+40_291+41insAGCAGTCTCCCGGGGCATATCAATTCCGG c.256+40_256+41insAGCAGTCTCCCGGGGCATATCAATTCCGG (n.256+40_256+41insAGCAGTCTCCCGGGGCATATCAATTCCGG) c.36+40_36+41insAGCAGTCTCCCGGGGCATATCAATTCCGG c.249+40_249+41insAGCAGTCTCCCGGGGCATATCAATTCCGG | gnomAD v4 |
2 | g.32064286_32064287insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGGG | CA2658520114 | SPAST | c.415+40_415+41insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGGG (n.415+40_415+41insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGGG) c.299+40_299+41insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGGG c.285+40_285+41insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGGG c.157+40_157+41insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGGG (n.157+40_157+41insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGGG) c.291+40_291+41insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGGG c.256+40_256+41insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGGG (n.256+40_256+41insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGGG) c.36+40_36+41insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGGG c.249+40_249+41insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGCGGG | gnomAD v4 |
2 | g.32064287G>A | CA2658520109 | SPAST | c.415+41G>A (n.415+41G>A) c.299+41G>A c.285+41G>A c.157+41G>A (n.157+41G>A) c.291+41G>A c.256+41G>A (n.256+41G>A) c.36+41G>A c.249+41G>A | gnomAD v4 |
2 | g.32064287G>C | CA2658520108 | SPAST | c.415+41G>C (n.415+41G>C) c.299+41G>C c.285+41G>C c.157+41G>C (n.157+41G>C) c.291+41G>C c.256+41G>C (n.256+41G>C) c.36+41G>C c.249+41G>C | gnomAD v4 |
2 | g.32064287G>T | CA2658520107 | SPAST | c.415+41G>T (n.415+41G>T) c.299+41G>T c.285+41G>T c.157+41G>T (n.157+41G>T) c.291+41G>T c.256+41G>T (n.256+41G>T) c.36+41G>T c.249+41G>T | gnomAD v4 |
2 | g.32064287dup | CA2658520106 | SPAST | c.415+41dup (n.415+41dup) c.299+41dup c.285+41dup c.157+41dup (n.157+41dup) c.291+41dup c.256+41dup (n.256+41dup) c.36+41dup c.249+41dup | gnomAD v4 |
2 | g.32064287_32064288insTC | CA2658520117 | SPAST | c.415+41_415+42insTC (n.415+41_415+42insTC) c.299+41_299+42insTC c.285+41_285+42insTC c.157+41_157+42insTC (n.157+41_157+42insTC) c.291+41_291+42insTC c.256+41_256+42insTC (n.256+41_256+42insTC) c.36+41_36+42insTC c.249+41_249+42insTC | gnomAD v4 |
2 | g.32064288A= | CA1242461868 | SPAST | c.415+42A= (n.415+42A=) c.299+42A= c.285+42A= c.157+42A= (n.157+42A=) c.291+42A= c.256+42A= (n.256+42A=) c.36+42A= c.249+42A= | |
2 | g.32064288A>C | CA2658520118 | SPAST | c.415+42A>C (n.415+42A>C) c.299+42A>C c.285+42A>C c.157+42A>C (n.157+42A>C) c.291+42A>C c.256+42A>C (n.256+42A>C) c.36+42A>C c.249+42A>C | gnomAD v4 |
2 | g.32064288A>G | CA45201416 | SPAST | c.415+42A>G (n.415+42A>G) c.299+42A>G c.285+42A>G c.157+42A>G (n.157+42A>G) c.291+42A>G c.256+42A>G (n.256+42A>G) c.36+42A>G c.249+42A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064288A>T | CA767739306 | SPAST | c.415+42A>T (n.415+42A>T) c.299+42A>T c.285+42A>T c.157+42A>T (n.157+42A>T) c.291+42A>T c.256+42A>T (n.256+42A>T) c.36+42A>T c.249+42A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064288_32064289del | CA2658520116 | SPAST | c.415+42_415+43del (n.415+42_415+43del) c.299+42_299+43del c.285+42_285+43del c.157+42_157+43del (n.157+42_157+43del) c.291+42_291+43del c.256+42_256+43del (n.256+42_256+43del) c.36+42_36+43del c.249+42_249+43del | gnomAD v4 |
2 | g.32064289del | CA2658520115 | SPAST | c.415+43del (n.415+43del) c.299+43del c.285+43del c.157+43del (n.157+43del) c.291+43del c.256+43del (n.256+43del) c.36+43del c.249+43del | gnomAD v4 |
2 | g.32064289A= | CA1242461869 | SPAST | c.415+43A= (n.415+43A=) c.299+43A= c.285+43A= c.157+43A= (n.157+43A=) c.291+43A= c.256+43A= (n.256+43A=) c.36+43A= c.249+43A= | |
2 | g.32064289A>C | CA2509534121 | SPAST | c.415+43A>C (n.415+43A>C) c.299+43A>C c.285+43A>C c.157+43A>C (n.157+43A>C) c.291+43A>C c.256+43A>C (n.256+43A>C) c.36+43A>C c.249+43A>C | gnomAD v4 |
2 | g.32064289A>G | CA531769498 | SPAST | c.415+43A>G (n.415+43A>G) c.299+43A>G c.285+43A>G c.157+43A>G (n.157+43A>G) c.291+43A>G c.256+43A>G (n.256+43A>G) c.36+43A>G c.249+43A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064289A>T | CA2658520119 | SPAST | c.415+43A>T (n.415+43A>T) c.299+43A>T c.285+43A>T c.157+43A>T (n.157+43A>T) c.291+43A>T c.256+43A>T (n.256+43A>T) c.36+43A>T c.249+43A>T | gnomAD v4 |
2 | g.32064289_32064290insAAG | CA2658520126 | SPAST | c.415+43_415+44insAAG (n.415+43_415+44insAAG) c.299+43_299+44insAAG c.285+43_285+44insAAG c.157+43_157+44insAAG (n.157+43_157+44insAAG) c.291+43_291+44insAAG c.256+43_256+44insAAG (n.256+43_256+44insAAG) c.36+43_36+44insAAG c.249+43_249+44insAAG | gnomAD v4 |
2 | g.32064289_32064290insCAG | CA2658520125 | SPAST | c.415+43_415+44insCAG (n.415+43_415+44insCAG) c.299+43_299+44insCAG c.285+43_285+44insCAG c.157+43_157+44insCAG (n.157+43_157+44insCAG) c.291+43_291+44insCAG c.256+43_256+44insCAG (n.256+43_256+44insCAG) c.36+43_36+44insCAG c.249+43_249+44insCAG | gnomAD v4 |
2 | g.32064290G>A | CA2556349007 | SPAST | c.415+44G>A (n.415+44G>A) c.299+44G>A c.285+44G>A c.157+44G>A (n.157+44G>A) c.291+44G>A c.256+44G>A (n.256+44G>A) c.36+44G>A c.249+44G>A | gnomAD v4 |
2 | g.32064290_32064291insAGG | CA2658520124 | SPAST | c.415+44_415+45insAGG (n.415+44_415+45insAGG) c.299+44_299+45insAGG c.285+44_285+45insAGG c.157+44_157+45insAGG (n.157+44_157+45insAGG) c.291+44_291+45insAGG c.256+44_256+45insAGG (n.256+44_256+45insAGG) c.36+44_36+45insAGG c.249+44_249+45insAGG | gnomAD v4 |
2 | g.32064291_32064292insGGGGGGGGGG | CA2658520123 | SPAST | c.415+45_415+46insGGGGGGGGGG (n.415+45_415+46insGGGGGGGGGG) c.299+45_299+46insGGGGGGGGGG c.285+45_285+46insGGGGGGGGGG c.157+45_157+46insGGGGGGGGGG (n.157+45_157+46insGGGGGGGGGG) c.291+45_291+46insGGGGGGGGGG c.256+45_256+46insGGGGGGGGGG (n.256+45_256+46insGGGGGGGGGG) c.36+45_36+46insGGGGGGGGGG c.249+45_249+46insGGGGGGGGGG | gnomAD v4 |
2 | g.32064291_32064292insGGGGGGGGGGGGGGGGGGGGGGGGG | CA2658520122 | SPAST | c.415+45_415+46insGGGGGGGGGGGGGGGGGGGGGGGGG (n.415+45_415+46insGGGGGGGGGGGGGGGGGGGGGGGGG) c.299+45_299+46insGGGGGGGGGGGGGGGGGGGGGGGGG c.285+45_285+46insGGGGGGGGGGGGGGGGGGGGGGGGG c.157+45_157+46insGGGGGGGGGGGGGGGGGGGGGGGGG (n.157+45_157+46insGGGGGGGGGGGGGGGGGGGGGGGGG) c.291+45_291+46insGGGGGGGGGGGGGGGGGGGGGGGGG c.256+45_256+46insGGGGGGGGGGGGGGGGGGGGGGGGG (n.256+45_256+46insGGGGGGGGGGGGGGGGGGGGGGGGG) c.36+45_36+46insGGGGGGGGGGGGGGGGGGGGGGGGG c.249+45_249+46insGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
2 | g.32064291_32064292insGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2658520121 | SPAST | c.415+45_415+46insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.415+45_415+46insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.299+45_299+46insGGGGGGGGGGGGGGGGGGGGGGGGGG c.285+45_285+46insGGGGGGGGGGGGGGGGGGGGGGGGGG c.157+45_157+46insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.157+45_157+46insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.291+45_291+46insGGGGGGGGGGGGGGGGGGGGGGGGGG c.256+45_256+46insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.256+45_256+46insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.36+45_36+46insGGGGGGGGGGGGGGGGGGGGGGGGGG c.249+45_249+46insGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
2 | g.32064291_32064292insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2658520120 | SPAST | c.415+45_415+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.415+45_415+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.299+45_299+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG c.285+45_285+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG c.157+45_157+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.157+45_157+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.291+45_291+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG c.256+45_256+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.256+45_256+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.36+45_36+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG c.249+45_249+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
2 | g.32064291dup | CA531769499 | SPAST | c.415+45dup (n.415+45dup) c.299+45dup c.285+45dup c.157+45dup (n.157+45dup) c.291+45dup c.256+45dup (n.256+45dup) c.36+45dup c.249+45dup | gnomAD v2 gnomAD v4 |
2 | g.32064290_32064291dup | CA2840092947 | SPAST | c.415+44_415+45dup (n.415+44_415+45dup) c.299+44_299+45dup c.285+44_285+45dup c.157+44_157+45dup (n.157+44_157+45dup) c.291+44_291+45dup c.256+44_256+45dup (n.256+44_256+45dup) c.36+44_36+45dup c.249+44_249+45dup | |
2 | g.32064291G>A | CA2576929957 | SPAST | c.415+45G>A (n.415+45G>A) c.299+45G>A c.285+45G>A c.157+45G>A (n.157+45G>A) c.291+45G>A c.256+45G>A (n.256+45G>A) c.36+45G>A c.249+45G>A | gnomAD v4 |
2 | g.32064291G>C | CA2658520127 | SPAST | c.415+45G>C (n.415+45G>C) c.299+45G>C c.285+45G>C c.157+45G>C (n.157+45G>C) c.291+45G>C c.256+45G>C (n.256+45G>C) c.36+45G>C c.249+45G>C | gnomAD v4 |
2 | g.32064291G>T | CA2658520128 | SPAST | c.415+45G>T (n.415+45G>T) c.299+45G>T c.285+45G>T c.157+45G>T (n.157+45G>T) c.291+45G>T c.256+45G>T (n.256+45G>T) c.36+45G>T c.249+45G>T | gnomAD v4 |
2 | g.32064292del | CA2658520130 | SPAST | c.415+46del (n.415+46del) c.299+46del c.285+46del c.157+46del (n.157+46del) c.291+46del c.256+46del (n.256+46del) c.36+46del c.249+46del | gnomAD v4 |
2 | g.32064292C>A | CA531769500 | SPAST | c.415+46C>A (n.415+46C>A) c.299+46C>A c.285+46C>A c.157+46C>A (n.157+46C>A) c.291+46C>A c.256+46C>A (n.256+46C>A) c.36+46C>A c.249+46C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064292C= | CA1242461871 | SPAST | c.415+46C= (n.415+46C=) c.299+46C= c.285+46C= c.157+46C= (n.157+46C=) c.291+46C= c.256+46C= (n.256+46C=) c.36+46C= c.249+46C= | |
2 | g.32064292C>G | CA531769501 | SPAST | c.415+46C>G (n.415+46C>G) c.299+46C>G c.285+46C>G c.157+46C>G (n.157+46C>G) c.291+46C>G c.256+46C>G (n.256+46C>G) c.36+46C>G c.249+46C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064292C>T | CA2658520129 | SPAST | c.415+46C>T (n.415+46C>T) c.299+46C>T c.285+46C>T c.157+46C>T (n.157+46C>T) c.291+46C>T c.256+46C>T (n.256+46C>T) c.36+46C>T c.249+46C>T | gnomAD v4 |
2 | g.32064292_32064293delinsCG | CA1242461870 | SPAST | c.415+46_415+47delinsCG (n.415+46_415+47delinsCG) c.299+46_299+47delinsCG c.285+46_285+47delinsCG c.157+46_157+47delinsCG (n.157+46_157+47delinsCG) c.291+46_291+47delinsCG c.256+46_256+47delinsCG (n.256+46_256+47delinsCG) c.36+46_36+47delinsCG c.249+46_249+47delinsCG | |
2 | g.32064292_32064295del | CA2658520131 | SPAST | c.415+46_415+49del (n.415+46_415+49del) c.299+46_299+49del c.285+46_285+49del c.157+46_157+49del (n.157+46_157+49del) c.291+46_291+49del c.256+46_256+49del (n.256+46_256+49del) c.36+46_36+49del c.249+46_249+49del | gnomAD v4 |
2 | g.32064292_32064293insCCGGGAAAAAGGGG | CA2658520138 | SPAST | c.415+46_415+47insCCGGGAAAAAGGGG (n.415+46_415+47insCCGGGAAAAAGGGG) c.299+46_299+47insCCGGGAAAAAGGGG c.285+46_285+47insCCGGGAAAAAGGGG c.157+46_157+47insCCGGGAAAAAGGGG (n.157+46_157+47insCCGGGAAAAAGGGG) c.291+46_291+47insCCGGGAAAAAGGGG c.256+46_256+47insCCGGGAAAAAGGGG (n.256+46_256+47insCCGGGAAAAAGGGG) c.36+46_36+47insCCGGGAAAAAGGGG c.249+46_249+47insCCGGGAAAAAGGGG | gnomAD v4 |
2 | g.32064292_32064293insCCGGGAAAGAGGGG | CA2658520139 | SPAST | c.415+46_415+47insCCGGGAAAGAGGGG (n.415+46_415+47insCCGGGAAAGAGGGG) c.299+46_299+47insCCGGGAAAGAGGGG c.285+46_285+47insCCGGGAAAGAGGGG c.157+46_157+47insCCGGGAAAGAGGGG (n.157+46_157+47insCCGGGAAAGAGGGG) c.291+46_291+47insCCGGGAAAGAGGGG c.256+46_256+47insCCGGGAAAGAGGGG (n.256+46_256+47insCCGGGAAAGAGGGG) c.36+46_36+47insCCGGGAAAGAGGGG c.249+46_249+47insCCGGGAAAGAGGGG | gnomAD v4 |
2 | g.32064292_32064293insCCGGGGAAGAGGGG | CA2658520140 | SPAST | c.415+46_415+47insCCGGGGAAGAGGGG (n.415+46_415+47insCCGGGGAAGAGGGG) c.299+46_299+47insCCGGGGAAGAGGGG c.285+46_285+47insCCGGGGAAGAGGGG c.157+46_157+47insCCGGGGAAGAGGGG (n.157+46_157+47insCCGGGGAAGAGGGG) c.291+46_291+47insCCGGGGAAGAGGGG c.256+46_256+47insCCGGGGAAGAGGGG (n.256+46_256+47insCCGGGGAAGAGGGG) c.36+46_36+47insCCGGGGAAGAGGGG c.249+46_249+47insCCGGGGAAGAGGGG | gnomAD v4 |
2 | g.32064292_32064293insCCCGGGAAAGAGGGG | CA2658520137 | SPAST | c.415+46_415+47insCCCGGGAAAGAGGGG (n.415+46_415+47insCCCGGGAAAGAGGGG) c.299+46_299+47insCCCGGGAAAGAGGGG c.285+46_285+47insCCCGGGAAAGAGGGG c.157+46_157+47insCCCGGGAAAGAGGGG (n.157+46_157+47insCCCGGGAAAGAGGGG) c.291+46_291+47insCCCGGGAAAGAGGGG c.256+46_256+47insCCCGGGAAAGAGGGG (n.256+46_256+47insCCCGGGAAAGAGGGG) c.36+46_36+47insCCCGGGAAAGAGGGG c.249+46_249+47insCCCGGGAAAGAGGGG | gnomAD v4 |
2 | g.32064293G>A | CA2576929958 | SPAST | c.415+47G>A (n.415+47G>A) c.299+47G>A c.285+47G>A c.157+47G>A (n.157+47G>A) c.291+47G>A c.256+47G>A (n.256+47G>A) c.36+47G>A c.249+47G>A | gnomAD v4 |
2 | g.32064293G= | CA1242461872 | SPAST | c.415+47G= (n.415+47G=) c.299+47G= c.285+47G= c.157+47G= (n.157+47G=) c.291+47G= c.256+47G= (n.256+47G=) c.36+47G= c.249+47G= | |
2 | g.32064293G>T | CA1028990193 | SPAST | c.415+47G>T (n.415+47G>T) c.299+47G>T c.285+47G>T c.157+47G>T (n.157+47G>T) c.291+47G>T c.256+47G>T (n.256+47G>T) c.36+47G>T c.249+47G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064293_32064294insCGGGAAAGAGGGGG | CA2658520144 | SPAST | c.415+47_415+48insCGGGAAAGAGGGGG (n.415+47_415+48insCGGGAAAGAGGGGG) c.299+47_299+48insCGGGAAAGAGGGGG c.285+47_285+48insCGGGAAAGAGGGGG c.157+47_157+48insCGGGAAAGAGGGGG (n.157+47_157+48insCGGGAAAGAGGGGG) c.291+47_291+48insCGGGAAAGAGGGGG c.256+47_256+48insCGGGAAAGAGGGGG (n.256+47_256+48insCGGGAAAGAGGGGG) c.36+47_36+48insCGGGAAAGAGGGGG c.249+47_249+48insCGGGAAAGAGGGGG | gnomAD v4 |
2 | g.32064293_32064294insCGGGGAAGAGGGGG | CA2658520142 | SPAST | c.415+47_415+48insCGGGGAAGAGGGGG (n.415+47_415+48insCGGGGAAGAGGGGG) c.299+47_299+48insCGGGGAAGAGGGGG c.285+47_285+48insCGGGGAAGAGGGGG c.157+47_157+48insCGGGGAAGAGGGGG (n.157+47_157+48insCGGGGAAGAGGGGG) c.291+47_291+48insCGGGGAAGAGGGGG c.256+47_256+48insCGGGGAAGAGGGGG (n.256+47_256+48insCGGGGAAGAGGGGG) c.36+47_36+48insCGGGGAAGAGGGGG c.249+47_249+48insCGGGGAAGAGGGGG | gnomAD v4 |
2 | g.32064294_32064295insGGG | CA2832539467 | SPAST | c.415+48_415+49insGGG (n.415+48_415+49insGGG) c.299+48_299+49insGGG c.285+48_285+49insGGG c.157+48_157+49insGGG (n.157+48_157+49insGGG) c.291+48_291+49insGGG c.256+48_256+49insGGG (n.256+48_256+49insGGG) c.36+48_36+49insGGG c.249+48_249+49insGGG | |
2 | g.32064294_32064295insGGGG | CA2749388915 | SPAST | c.415+48_415+49insGGGG (n.415+48_415+49insGGGG) c.299+48_299+49insGGGG c.285+48_285+49insGGGG c.157+48_157+49insGGGG (n.157+48_157+49insGGGG) c.291+48_291+49insGGGG c.256+48_256+49insGGGG (n.256+48_256+49insGGGG) c.36+48_36+49insGGGG c.249+48_249+49insGGGG | |
2 | g.32064294_32064295insGAAAGAGGGGGG | CA2658520143 | SPAST | c.415+48_415+49insGAAAGAGGGGGG (n.415+48_415+49insGAAAGAGGGGGG) c.299+48_299+49insGAAAGAGGGGGG c.285+48_285+49insGAAAGAGGGGGG c.157+48_157+49insGAAAGAGGGGGG (n.157+48_157+49insGAAAGAGGGGGG) c.291+48_291+49insGAAAGAGGGGGG c.256+48_256+49insGAAAGAGGGGGG (n.256+48_256+49insGAAAGAGGGGGG) c.36+48_36+49insGAAAGAGGGGGG c.249+48_249+49insGAAAGAGGGGGG | gnomAD v4 |
2 | g.32064294_32064295insGGAAGAGGGGGG | CA2658520136 | SPAST | c.415+48_415+49insGGAAGAGGGGGG (n.415+48_415+49insGGAAGAGGGGGG) c.299+48_299+49insGGAAGAGGGGGG c.285+48_285+49insGGAAGAGGGGGG c.157+48_157+49insGGAAGAGGGGGG (n.157+48_157+49insGGAAGAGGGGGG) c.291+48_291+49insGGAAGAGGGGGG c.256+48_256+49insGGAAGAGGGGGG (n.256+48_256+49insGGAAGAGGGGGG) c.36+48_36+49insGGAAGAGGGGGG c.249+48_249+49insGGAAGAGGGGGG | gnomAD v4 |
2 | g.32064294_32064295insGGGAAAGAGGGGGG | CA2658520141 | SPAST | c.415+48_415+49insGGGAAAGAGGGGGG (n.415+48_415+49insGGGAAAGAGGGGGG) c.299+48_299+49insGGGAAAGAGGGGGG c.285+48_285+49insGGGAAAGAGGGGGG c.157+48_157+49insGGGAAAGAGGGGGG (n.157+48_157+49insGGGAAAGAGGGGGG) c.291+48_291+49insGGGAAAGAGGGGGG c.256+48_256+49insGGGAAAGAGGGGGG (n.256+48_256+49insGGGAAAGAGGGGGG) c.36+48_36+49insGGGAAAGAGGGGGG c.249+48_249+49insGGGAAAGAGGGGGG | gnomAD v4 |
2 | g.32064294del | CA531769502 | SPAST | c.415+48del (n.415+48del) c.299+48del c.285+48del c.157+48del (n.157+48del) c.291+48del c.256+48del (n.256+48del) c.36+48del c.249+48del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064293_32064299del | CA2658520135 | SPAST | c.415+47_415+53del (n.415+47_415+53del) c.299+47_299+53del c.285+47_285+53del c.157+47_157+53del (n.157+47_157+53del) c.291+47_291+53del c.256+47_256+53del (n.256+47_256+53del) c.36+47_36+53del c.249+47_249+53del | gnomAD v4 |
2 | g.32064293_32064300del | CA2658520134 | SPAST | c.415+47_415+54del (n.415+47_415+54del) c.299+47_299+54del c.285+47_285+54del c.157+47_157+54del (n.157+47_157+54del) c.291+47_291+54del c.256+47_256+54del (n.256+47_256+54del) c.36+47_36+54del c.249+47_249+54del | gnomAD v4 |
2 | g.32064293_32064302del | CA2658520133 | SPAST | c.415+47_415+56del (n.415+47_415+56del) c.299+47_299+56del c.285+47_285+56del c.157+47_157+56del (n.157+47_157+56del) c.291+47_291+56del c.256+47_256+56del (n.256+47_256+56del) c.36+47_36+56del c.249+47_249+56del | gnomAD v4 |
2 | g.32064293_32064309del | CA2658520132 | SPAST | c.415+47_415+63del (n.415+47_415+63del) c.299+47_299+63del c.285+47_285+63del c.157+47_157+63del (n.157+47_157+63del) c.291+47_291+63del c.256+47_256+63del (n.256+47_256+63del) c.36+47_36+63del c.249+47_249+63del | gnomAD v4 |
2 | g.32064294G>A | CA2658520148 | SPAST | c.415+48G>A (n.415+48G>A) c.299+48G>A c.285+48G>A c.157+48G>A (n.157+48G>A) c.291+48G>A c.256+48G>A (n.256+48G>A) c.36+48G>A c.249+48G>A | gnomAD v4 |
2 | g.32064294G>T | CA2576929959 | SPAST | c.415+48G>T (n.415+48G>T) c.299+48G>T c.285+48G>T c.157+48G>T (n.157+48G>T) c.291+48G>T c.256+48G>T (n.256+48G>T) c.36+48G>T c.249+48G>T | gnomAD v4 |
2 | g.32064295_32064296del | CA2658520145 | SPAST | c.415+49_415+50del (n.415+49_415+50del) c.299+49_299+50del c.285+49_285+50del c.157+49_157+50del (n.157+49_157+50del) c.291+49_291+50del c.256+49_256+50del (n.256+49_256+50del) c.36+49_36+50del c.249+49_249+50del | gnomAD v4 |
2 | g.32064295_32064305del | CA2658520146 | SPAST | c.415+49_415+59del (n.415+49_415+59del) c.299+49_299+59del c.285+49_285+59del c.157+49_157+59del (n.157+49_157+59del) c.291+49_291+59del c.256+49_256+59del (n.256+49_256+59del) c.36+49_36+59del c.249+49_249+59del | gnomAD v4 |
2 | g.32064295_32064311del | CA2658520147 | SPAST | c.415+49_415+65del (n.415+49_415+65del) c.299+49_299+65del c.285+49_285+65del c.157+49_157+65del (n.157+49_157+65del) c.291+49_291+65del c.256+49_256+65del (n.256+49_256+65del) c.36+49_36+65del c.249+49_249+65del | gnomAD v4 |
2 | g.32064295del | CA2658520149 | SPAST | c.415+49del (n.415+49del) c.299+49del c.285+49del c.157+49del (n.157+49del) c.291+49del c.256+49del (n.256+49del) c.36+49del c.249+49del | gnomAD v4 |
2 | g.32064295T>A | CA2576929960 | SPAST | c.415+49T>A (n.415+49T>A) c.299+49T>A c.285+49T>A c.157+49T>A (n.157+49T>A) c.291+49T>A c.256+49T>A (n.256+49T>A) c.36+49T>A c.249+49T>A | gnomAD v4 |
2 | g.32064295T>C | CA2576929961 | SPAST | c.415+49T>C (n.415+49T>C) c.299+49T>C c.285+49T>C c.157+49T>C (n.157+49T>C) c.291+49T>C c.256+49T>C (n.256+49T>C) c.36+49T>C c.249+49T>C | |
2 | g.32064295T>G | CA531769503 | SPAST | c.415+49T>G (n.415+49T>G) c.299+49T>G c.285+49T>G c.157+49T>G (n.157+49T>G) c.291+49T>G c.256+49T>G (n.256+49T>G) c.36+49T>G c.249+49T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064295T= | CA1242461873 | SPAST | c.415+49T= (n.415+49T=) c.299+49T= c.285+49T= c.157+49T= (n.157+49T=) c.291+49T= c.256+49T= (n.256+49T=) c.36+49T= c.249+49T= | |
2 | g.32064295_32064296insATCTGGGGGGG | CA2658520158 | SPAST | c.415+49_415+50insATCTGGGGGGG (n.415+49_415+50insATCTGGGGGGG) c.299+49_299+50insATCTGGGGGGG c.285+49_285+50insATCTGGGGGGG c.157+49_157+50insATCTGGGGGGG (n.157+49_157+50insATCTGGGGGGG) c.291+49_291+50insATCTGGGGGGG c.256+49_256+50insATCTGGGGGGG (n.256+49_256+50insATCTGGGGGGG) c.36+49_36+50insATCTGGGGGGG c.249+49_249+50insATCTGGGGGGG | gnomAD v4 |
2 | g.32064295_32064296insTACTATGGGGGG | CA2658520155 | SPAST | c.415+49_415+50insTACTATGGGGGG (n.415+49_415+50insTACTATGGGGGG) c.299+49_299+50insTACTATGGGGGG c.285+49_285+50insTACTATGGGGGG c.157+49_157+50insTACTATGGGGGG (n.157+49_157+50insTACTATGGGGGG) c.291+49_291+50insTACTATGGGGGG c.256+49_256+50insTACTATGGGGGG (n.256+49_256+50insTACTATGGGGGG) c.36+49_36+50insTACTATGGGGGG c.249+49_249+50insTACTATGGGGGG | gnomAD v4 |
2 | g.32064295_32064296insTCACATGGGGGG | CA2658520154 | SPAST | c.415+49_415+50insTCACATGGGGGG (n.415+49_415+50insTCACATGGGGGG) c.299+49_299+50insTCACATGGGGGG c.285+49_285+50insTCACATGGGGGG c.157+49_157+50insTCACATGGGGGG (n.157+49_157+50insTCACATGGGGGG) c.291+49_291+50insTCACATGGGGGG c.256+49_256+50insTCACATGGGGGG (n.256+49_256+50insTCACATGGGGGG) c.36+49_36+50insTCACATGGGGGG c.249+49_249+50insTCACATGGGGGG | gnomAD v4 |
2 | g.32064296G>A | CA2576929962 | SPAST | c.415+50G>A (n.415+50G>A) c.299+50G>A c.285+50G>A c.157+50G>A (n.157+50G>A) c.291+50G>A c.256+50G>A (n.256+50G>A) c.36+50G>A c.249+50G>A | gnomAD v4 |
2 | g.32064296G>C | CA2658520150 | SPAST | c.415+50G>C (n.415+50G>C) c.299+50G>C c.285+50G>C c.157+50G>C (n.157+50G>C) c.291+50G>C c.256+50G>C (n.256+50G>C) c.36+50G>C c.249+50G>C | gnomAD v4 |
2 | g.32064296G= | CA1242461874 | SPAST | c.415+50G= (n.415+50G=) c.299+50G= c.285+50G= c.157+50G= (n.157+50G=) c.291+50G= c.256+50G= (n.256+50G=) c.36+50G= c.249+50G= | |
2 | g.32064296G>T | CA1242461875 | SPAST | c.415+50G>T (n.415+50G>T) c.299+50G>T c.285+50G>T c.157+50G>T (n.157+50G>T) c.291+50G>T c.256+50G>T (n.256+50G>T) c.36+50G>T c.249+50G>T | dbSNP gnomAD v4 |
2 | g.32064296_32064299del | CA2658520152 | SPAST | c.415+50_415+53del (n.415+50_415+53del) c.299+50_299+53del c.285+50_285+53del c.157+50_157+53del (n.157+50_157+53del) c.291+50_291+53del c.256+50_256+53del (n.256+50_256+53del) c.36+50_36+53del c.249+50_249+53del | gnomAD v4 |
2 | g.32064299_32064300insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG | CA2658520157 | SPAST | c.415+53_415+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG (n.415+53_415+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG) c.299+53_299+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG c.285+53_285+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG c.157+53_157+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG (n.157+53_157+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG) c.291+53_291+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG c.256+53_256+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG (n.256+53_256+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG) c.36+53_36+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG c.249+53_249+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG | gnomAD v4 |
2 | g.32064299_32064300insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG | CA2658520156 | SPAST | c.415+53_415+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG (n.415+53_415+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG) c.299+53_299+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG c.285+53_285+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG c.157+53_157+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG (n.157+53_157+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG) c.291+53_291+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG c.256+53_256+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG (n.256+53_256+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG) c.36+53_36+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG c.249+53_249+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG | gnomAD v4 |
2 | g.32064299dup | CA531769504 | SPAST | c.415+53dup (n.415+53dup) c.299+53dup c.285+53dup c.157+53dup (n.157+53dup) c.291+53dup c.256+53dup (n.256+53dup) c.36+53dup c.249+53dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064299del | CA2658520159 | SPAST | c.415+53del (n.415+53del) c.299+53del c.285+53del c.157+53del (n.157+53del) c.291+53del c.256+53del (n.256+53del) c.36+53del c.249+53del | gnomAD v4 |
2 | g.32064298_32064299del | CA2658520153 | SPAST | c.415+52_415+53del (n.415+52_415+53del) c.299+52_299+53del c.285+52_285+53del c.157+52_157+53del (n.157+52_157+53del) c.291+52_291+53del c.256+52_256+53del (n.256+52_256+53del) c.36+52_36+53del c.249+52_249+53del | gnomAD v4 |
2 | g.32064299_32064313del | CA2658520151 | SPAST | c.415+53_415+67del (n.415+53_415+67del) c.299+53_299+67del c.285+53_285+67del c.157+53_157+67del (n.157+53_157+67del) c.291+53_291+67del c.256+53_256+67del (n.256+53_256+67del) c.36+53_36+67del c.249+53_249+67del | gnomAD v4 |
2 | g.32064297G>A | CA2658520161 | SPAST | c.415+51G>A (n.415+51G>A) c.299+51G>A c.285+51G>A c.157+51G>A (n.157+51G>A) c.291+51G>A c.256+51G>A (n.256+51G>A) c.36+51G>A c.249+51G>A | gnomAD v4 |
2 | g.32064297G>T | CA2658520160 | SPAST | c.415+51G>T (n.415+51G>T) c.299+51G>T c.285+51G>T c.157+51G>T (n.157+51G>T) c.291+51G>T c.256+51G>T (n.256+51G>T) c.36+51G>T c.249+51G>T | gnomAD v4 |
2 | g.32064297_32064300del | CA2658520163 | SPAST | c.415+51_415+54del (n.415+51_415+54del) c.299+51_299+54del c.285+51_285+54del c.157+51_157+54del (n.157+51_157+54del) c.291+51_291+54del c.256+51_256+54del (n.256+51_256+54del) c.36+51_36+54del c.249+51_249+54del | gnomAD v4 |
2 | g.32064300_32064307del | CA2658520162 | SPAST | c.415+54_415+61del (n.415+54_415+61del) c.299+54_299+61del c.285+54_285+61del c.157+54_157+61del (n.157+54_157+61del) c.291+54_291+61del c.256+54_256+61del (n.256+54_256+61del) c.36+54_36+61del c.249+54_249+61del | gnomAD v4 |
2 | g.32064298G>A | CA531769505 | SPAST | c.415+52G>A (n.415+52G>A) c.299+52G>A c.285+52G>A c.157+52G>A (n.157+52G>A) c.291+52G>A c.256+52G>A (n.256+52G>A) c.36+52G>A c.249+52G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064298G= | CA1242461876 | SPAST | c.415+52G= (n.415+52G=) c.299+52G= c.285+52G= c.157+52G= (n.157+52G=) c.291+52G= c.256+52G= (n.256+52G=) c.36+52G= c.249+52G= | |
2 | g.32064298G>T | CA2658520167 | SPAST | c.415+52G>T (n.415+52G>T) c.299+52G>T c.285+52G>T c.157+52G>T (n.157+52G>T) c.291+52G>T c.256+52G>T (n.256+52G>T) c.36+52G>T c.249+52G>T | gnomAD v4 |
2 | g.32064298_32064300del | CA2658520164 | SPAST | c.415+52_415+54del (n.415+52_415+54del) c.299+52_299+54del c.285+52_285+54del c.157+52_157+54del (n.157+52_157+54del) c.291+52_291+54del c.256+52_256+54del (n.256+52_256+54del) c.36+52_36+54del c.249+52_249+54del | gnomAD v4 |
2 | g.32064299_32064302del | CA2658520165 | SPAST | c.415+53_415+56del (n.415+53_415+56del) c.299+53_299+56del c.285+53_285+56del c.157+53_157+56del (n.157+53_157+56del) c.291+53_291+56del c.256+53_256+56del (n.256+53_256+56del) c.36+53_36+56del c.249+53_249+56del | gnomAD v4 |
2 | g.32064298_32064303del | CA2658520166 | SPAST | c.415+52_415+57del (n.415+52_415+57del) c.299+52_299+57del c.285+52_285+57del c.157+52_157+57del (n.157+52_157+57del) c.291+52_291+57del c.256+52_256+57del (n.256+52_256+57del) c.36+52_36+57del c.249+52_249+57del | gnomAD v4 |
2 | g.32064298_32064299insTT | CA2658520174 | SPAST | c.415+52_415+53insTT (n.415+52_415+53insTT) c.299+52_299+53insTT c.285+52_285+53insTT c.157+52_157+53insTT (n.157+52_157+53insTT) c.291+52_291+53insTT c.256+52_256+53insTT (n.256+52_256+53insTT) c.36+52_36+53insTT c.249+52_249+53insTT | gnomAD v4 |
2 | g.32064299G>A | CA2658520171 | SPAST | c.415+53G>A (n.415+53G>A) c.299+53G>A c.285+53G>A c.157+53G>A (n.157+53G>A) c.291+53G>A c.256+53G>A (n.256+53G>A) c.36+53G>A c.249+53G>A | gnomAD v4 |
2 | g.32064299G>C | CA2658520170 | SPAST | c.415+53G>C (n.415+53G>C) c.299+53G>C c.285+53G>C c.157+53G>C (n.157+53G>C) c.291+53G>C c.256+53G>C (n.256+53G>C) c.36+53G>C c.249+53G>C | gnomAD v4 |
2 | g.32064299G>T | CA2658520169 | SPAST | c.415+53G>T (n.415+53G>T) c.299+53G>T c.285+53G>T c.157+53G>T (n.157+53G>T) c.291+53G>T c.256+53G>T (n.256+53G>T) c.36+53G>T c.249+53G>T | gnomAD v4 |
2 | g.32064299_32064300del | CA2658520173 | SPAST | c.415+53_415+54del (n.415+53_415+54del) c.299+53_299+54del c.285+53_285+54del c.157+53_157+54del (n.157+53_157+54del) c.291+53_291+54del c.256+53_256+54del (n.256+53_256+54del) c.36+53_36+54del c.249+53_249+54del | gnomAD v4 |
2 | g.32064300_32064302del | CA2658520168 | SPAST | c.415+54_415+56del (n.415+54_415+56del) c.299+54_299+56del c.285+54_285+56del c.157+54_157+56del (n.157+54_157+56del) c.291+54_291+56del c.256+54_256+56del (n.256+54_256+56del) c.36+54_36+56del c.249+54_249+56del | gnomAD v4 |
2 | g.32064300_32064305del | CA2658520172 | SPAST | c.415+54_415+59del (n.415+54_415+59del) c.299+54_299+59del c.285+54_285+59del c.157+54_157+59del (n.157+54_157+59del) c.291+54_291+59del c.256+54_256+59del (n.256+54_256+59del) c.36+54_36+59del c.249+54_249+59del | gnomAD v4 |
2 | g.32064299_32064300insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT | CA2658520175 | SPAST | c.415+53_415+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT (n.415+53_415+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT) c.299+53_299+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT c.285+53_285+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT c.157+53_157+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT (n.157+53_157+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT) c.291+53_291+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT c.256+53_256+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT (n.256+53_256+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT) c.36+53_36+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT c.249+53_249+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT | gnomAD v4 |
2 | g.32064300del | CA2658520177 | SPAST | c.415+54del (n.415+54del) c.299+54del c.285+54del c.157+54del (n.157+54del) c.291+54del c.256+54del (n.256+54del) c.36+54del c.249+54del | gnomAD v4 |
2 | g.32064300T>A | CA2658520181 | SPAST | c.415+54T>A (n.415+54T>A) c.299+54T>A c.285+54T>A c.157+54T>A (n.157+54T>A) c.291+54T>A c.256+54T>A (n.256+54T>A) c.36+54T>A c.249+54T>A | gnomAD v4 |
2 | g.32064300T>C | CA1028990196 | SPAST | c.415+54T>C (n.415+54T>C) c.299+54T>C c.285+54T>C c.157+54T>C (n.157+54T>C) c.291+54T>C c.256+54T>C (n.256+54T>C) c.36+54T>C c.249+54T>C | gnomAD v3 gnomAD v4 |
2 | g.32064300T>G | CA2576929963 | SPAST | c.415+54T>G (n.415+54T>G) c.299+54T>G c.285+54T>G c.157+54T>G (n.157+54T>G) c.291+54T>G c.256+54T>G (n.256+54T>G) c.36+54T>G c.249+54T>G | gnomAD v4 |
2 | g.32064300dup | CA2658520176 | SPAST | c.415+54dup (n.415+54dup) c.299+54dup c.285+54dup c.157+54dup (n.157+54dup) c.291+54dup c.256+54dup (n.256+54dup) c.36+54dup c.249+54dup | gnomAD v4 |
2 | g.32064300_32064301del | CA2658520178 | SPAST | c.415+54_415+55del (n.415+54_415+55del) c.299+54_299+55del c.285+54_285+55del c.157+54_157+55del (n.157+54_157+55del) c.291+54_291+55del c.256+54_256+55del (n.256+54_256+55del) c.36+54_36+55del c.249+54_249+55del | gnomAD v4 |
2 | g.32064300_32064303del | CA2658520179 | SPAST | c.415+54_415+57del (n.415+54_415+57del) c.299+54_299+57del c.285+54_285+57del c.157+54_157+57del (n.157+54_157+57del) c.291+54_291+57del c.256+54_256+57del (n.256+54_256+57del) c.36+54_36+57del c.249+54_249+57del | gnomAD v4 |
2 | g.32064300_32064304del | CA2658520180 | SPAST | c.415+54_415+58del (n.415+54_415+58del) c.299+54_299+58del c.285+54_285+58del c.157+54_157+58del (n.157+54_157+58del) c.291+54_291+58del c.256+54_256+58del (n.256+54_256+58del) c.36+54_36+58del c.249+54_249+58del | gnomAD v4 |
2 | g.32064300_32064301insG | CA2658520184 | SPAST | c.415+54_415+55insG (n.415+54_415+55insG) c.299+54_299+55insG c.285+54_285+55insG c.157+54_157+55insG (n.157+54_157+55insG) c.291+54_291+55insG c.256+54_256+55insG (n.256+54_256+55insG) c.36+54_36+55insG c.249+54_249+55insG | gnomAD v4 |
2 | g.32064300_32064301insGGGGGGGGGGG | CA2749388916 | SPAST | c.415+54_415+55insGGGGGGGGGGG (n.415+54_415+55insGGGGGGGGGGG) c.299+54_299+55insGGGGGGGGGGG c.285+54_285+55insGGGGGGGGGGG c.157+54_157+55insGGGGGGGGGGG (n.157+54_157+55insGGGGGGGGGGG) c.291+54_291+55insGGGGGGGGGGG c.256+54_256+55insGGGGGGGGGGG (n.256+54_256+55insGGGGGGGGGGG) c.36+54_36+55insGGGGGGGGGGG c.249+54_249+55insGGGGGGGGGGG | |
2 | g.32064301C>A | CA1242461878 | SPAST | c.415+55C>A (n.415+55C>A) c.299+55C>A c.285+55C>A c.157+55C>A (n.157+55C>A) c.291+55C>A c.256+55C>A (n.256+55C>A) c.36+55C>A c.249+55C>A | dbSNP gnomAD v4 |
2 | g.32064301C= | CA1242461877 | SPAST | c.415+55C= (n.415+55C=) c.299+55C= c.285+55C= c.157+55C= (n.157+55C=) c.291+55C= c.256+55C= (n.256+55C=) c.36+55C= c.249+55C= | |
2 | g.32064301C>G | CA2658520182 | SPAST | c.415+55C>G (n.415+55C>G) c.299+55C>G c.285+55C>G c.157+55C>G (n.157+55C>G) c.291+55C>G c.256+55C>G (n.256+55C>G) c.36+55C>G c.249+55C>G | gnomAD v4 |
2 | g.32064301C>T | CA531769506 | SPAST | c.415+55C>T (n.415+55C>T) c.299+55C>T c.285+55C>T c.157+55C>T (n.157+55C>T) c.291+55C>T c.256+55C>T (n.256+55C>T) c.36+55C>T c.249+55C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064301dup | CA2658520186 | SPAST | c.415+55dup (n.415+55dup) c.299+55dup c.285+55dup c.157+55dup (n.157+55dup) c.291+55dup c.256+55dup (n.256+55dup) c.36+55dup c.249+55dup | gnomAD v4 |
2 | g.32064301_32064309del | CA2658520185 | SPAST | c.415+55_415+63del (n.415+55_415+63del) c.299+55_299+63del c.285+55_285+63del c.157+55_157+63del (n.157+55_157+63del) c.291+55_291+63del c.256+55_256+63del (n.256+55_256+63del) c.36+55_36+63del c.249+55_249+63del | gnomAD v4 |
2 | g.32064301_32064310del | CA2658520183 | SPAST | c.415+55_415+64del (n.415+55_415+64del) c.299+55_299+64del c.285+55_285+64del c.157+55_157+64del (n.157+55_157+64del) c.291+55_291+64del c.256+55_256+64del (n.256+55_256+64del) c.36+55_36+64del c.249+55_249+64del | gnomAD v4 |
2 | g.32064302del | CA2658520187 | SPAST | c.415+56del (n.415+56del) c.299+56del c.285+56del c.157+56del (n.157+56del) c.291+56del c.256+56del (n.256+56del) c.36+56del c.249+56del | gnomAD v4 |
2 | g.32064302G>A | CA2576929964 | SPAST | c.415+56G>A (n.415+56G>A) c.299+56G>A c.285+56G>A c.157+56G>A (n.157+56G>A) c.291+56G>A c.256+56G>A (n.256+56G>A) c.36+56G>A c.249+56G>A | gnomAD v4 |
2 | g.32064302G>C | CA2658520188 | SPAST | c.415+56G>C (n.415+56G>C) c.299+56G>C c.285+56G>C c.157+56G>C (n.157+56G>C) c.291+56G>C c.256+56G>C (n.256+56G>C) c.36+56G>C c.249+56G>C | gnomAD v4 |
2 | g.32064302G= | CA1242461879 | SPAST | c.415+56G= (n.415+56G=) c.299+56G= c.285+56G= c.157+56G= (n.157+56G=) c.291+56G= c.256+56G= (n.256+56G=) c.36+56G= c.249+56G= | |
2 | g.32064302G>T | CA1028990197 | SPAST | c.415+56G>T (n.415+56G>T) c.299+56G>T c.285+56G>T c.157+56G>T (n.157+56G>T) c.291+56G>T c.256+56G>T (n.256+56G>T) c.36+56G>T c.249+56G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064303_32064311del | CA2658520189 | SPAST | c.415+57_415+65del (n.415+57_415+65del) c.299+57_299+65del c.285+57_285+65del c.157+57_157+65del (n.157+57_157+65del) c.291+57_291+65del c.256+57_256+65del (n.256+57_256+65del) c.36+57_36+65del c.249+57_249+65del | gnomAD v4 |
2 | g.32064303C>G | CA2658520190 | SPAST | c.415+57C>G (n.415+57C>G) c.299+57C>G c.285+57C>G c.157+57C>G (n.157+57C>G) c.291+57C>G c.256+57C>G (n.256+57C>G) c.36+57C>G c.249+57C>G | gnomAD v4 |
2 | g.32064303_32064304del | CA2576929965 | SPAST | c.415+57_415+58del (n.415+57_415+58del) c.299+57_299+58del c.285+57_285+58del c.157+57_157+58del (n.157+57_157+58del) c.291+57_291+58del c.256+57_256+58del (n.256+57_256+58del) c.36+57_36+58del c.249+57_249+58del | gnomAD v4 |
2 | g.32064304C>A | CA2658520191 | SPAST | c.415+58C>A (n.415+58C>A) c.299+58C>A c.285+58C>A c.157+58C>A (n.157+58C>A) c.291+58C>A c.256+58C>A (n.256+58C>A) c.36+58C>A c.249+58C>A | gnomAD v4 |
2 | g.32064304C= | CA1242461881 | SPAST | c.415+58C= (n.415+58C=) c.299+58C= c.285+58C= c.157+58C= (n.157+58C=) c.291+58C= c.256+58C= (n.256+58C=) c.36+58C= c.249+58C= | |
2 | g.32064304C>G | CA1028990198 | SPAST | c.415+58C>G (n.415+58C>G) c.299+58C>G c.285+58C>G c.157+58C>G (n.157+58C>G) c.291+58C>G c.256+58C>G (n.256+58C>G) c.36+58C>G c.249+58C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064304C>T | CA1242461880 | SPAST | c.415+58C>T (n.415+58C>T) c.299+58C>T c.285+58C>T c.157+58C>T (n.157+58C>T) c.291+58C>T c.256+58C>T (n.256+58C>T) c.36+58C>T c.249+58C>T | dbSNP gnomAD v4 |
2 | g.32064304_32064305insCG | CA2658520197 | SPAST | c.415+58_415+59insCG (n.415+58_415+59insCG) c.299+58_299+59insCG c.285+58_285+59insCG c.157+58_157+59insCG (n.157+58_157+59insCG) c.291+58_291+59insCG c.256+58_256+59insCG (n.256+58_256+59insCG) c.36+58_36+59insCG c.249+58_249+59insCG | gnomAD v4 |
2 | g.32064304_32064305insCCG | CA2658520198 | SPAST | c.415+58_415+59insCCG (n.415+58_415+59insCCG) c.299+58_299+59insCCG c.285+58_285+59insCCG c.157+58_157+59insCCG (n.157+58_157+59insCCG) c.291+58_291+59insCCG c.256+58_256+59insCCG (n.256+58_256+59insCCG) c.36+58_36+59insCCG c.249+58_249+59insCCG | gnomAD v4 |
2 | g.32064305G>A | CA2658520194 | SPAST | c.415+59G>A (n.415+59G>A) c.299+59G>A c.285+59G>A c.157+59G>A (n.157+59G>A) c.291+59G>A c.256+59G>A (n.256+59G>A) c.36+59G>A c.249+59G>A | gnomAD v4 |
2 | g.32064305G>C | CA2658520193 | SPAST | c.415+59G>C (n.415+59G>C) c.299+59G>C c.285+59G>C c.157+59G>C (n.157+59G>C) c.291+59G>C c.256+59G>C (n.256+59G>C) c.36+59G>C c.249+59G>C | gnomAD v4 |
2 | g.32064305G= | CA1242461882 | SPAST | c.415+59G= (n.415+59G=) c.299+59G= c.285+59G= c.157+59G= (n.157+59G=) c.291+59G= c.256+59G= (n.256+59G=) c.36+59G= c.249+59G= | |
2 | g.32064305G>T | CA45201417 | SPAST | c.415+59G>T (n.415+59G>T) c.299+59G>T c.285+59G>T c.157+59G>T (n.157+59G>T) c.291+59G>T c.256+59G>T (n.256+59G>T) c.36+59G>T c.249+59G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064305_32064306insCGG | CA2658520196 | SPAST | c.415+59_415+60insCGG (n.415+59_415+60insCGG) c.299+59_299+60insCGG c.285+59_285+60insCGG c.157+59_157+60insCGG (n.157+59_157+60insCGG) c.291+59_291+60insCGG c.256+59_256+60insCGG (n.256+59_256+60insCGG) c.36+59_36+60insCGG c.249+59_249+60insCGG | gnomAD v4 |
2 | g.32064309_32064310insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG | CA2699025883 | SPAST | c.415+63_415+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG (n.415+63_415+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG) c.299+63_299+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG c.285+63_285+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG c.157+63_157+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG (n.157+63_157+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG) c.291+63_291+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG c.256+63_256+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG (n.256+63_256+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG) c.36+63_36+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG c.249+63_249+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG | dbSNP |
2 | g.32064309dup | CA2576929966 | SPAST | c.415+63dup (n.415+63dup) c.299+63dup c.285+63dup c.157+63dup (n.157+63dup) c.291+63dup c.256+63dup (n.256+63dup) c.36+63dup c.249+63dup | gnomAD v4 |
2 | g.32064307_32064309dup | CA2658520195 | SPAST | c.415+61_415+63dup (n.415+61_415+63dup) c.299+61_299+63dup c.285+61_285+63dup c.157+61_157+63dup (n.157+61_157+63dup) c.291+61_291+63dup c.256+61_256+63dup (n.256+61_256+63dup) c.36+61_36+63dup c.249+61_249+63dup | gnomAD v4 |
2 | g.32064309del | CA2509534122 | SPAST | c.415+63del (n.415+63del) c.299+63del c.285+63del c.157+63del (n.157+63del) c.291+63del c.256+63del (n.256+63del) c.36+63del c.249+63del | gnomAD v4 |
2 | g.32064308_32064313del | CA2658520192 | SPAST | c.415+62_415+67del (n.415+62_415+67del) c.299+62_299+67del c.285+62_285+67del c.157+62_157+67del (n.157+62_157+67del) c.291+62_291+67del c.256+62_256+67del (n.256+62_256+67del) c.36+62_36+67del c.249+62_249+67del | gnomAD v4 |
2 | g.32064305_32064306insC | CA2658520199 | SPAST | c.415+59_415+60insC (n.415+59_415+60insC) c.299+59_299+60insC c.285+59_285+60insC c.157+59_157+60insC (n.157+59_157+60insC) c.291+59_291+60insC c.256+59_256+60insC (n.256+59_256+60insC) c.36+59_36+60insC c.249+59_249+60insC | gnomAD v4 |
2 | g.32064305_32064306insT | CA1242461883 | SPAST | c.415+59_415+60insT (n.415+59_415+60insT) c.299+59_299+60insT c.285+59_285+60insT c.157+59_157+60insT (n.157+59_157+60insT) c.291+59_291+60insT c.256+59_256+60insT (n.256+59_256+60insT) c.36+59_36+60insT c.249+59_249+60insT | dbSNP |
2 | g.32064306G>A | CA1242461885 | SPAST | c.415+60G>A (n.415+60G>A) c.299+60G>A c.285+60G>A c.157+60G>A (n.157+60G>A) c.291+60G>A c.256+60G>A (n.256+60G>A) c.36+60G>A c.249+60G>A | dbSNP gnomAD v4 |
2 | g.32064306G>C | CA767739323 | SPAST | c.415+60G>C (n.415+60G>C) c.299+60G>C c.285+60G>C c.157+60G>C (n.157+60G>C) c.291+60G>C c.256+60G>C (n.256+60G>C) c.36+60G>C c.249+60G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064306G= | CA1242461884 | SPAST | c.415+60G= (n.415+60G=) c.299+60G= c.285+60G= c.157+60G= (n.157+60G=) c.291+60G= c.256+60G= (n.256+60G=) c.36+60G= c.249+60G= | |
2 | g.32064306G>T | CA2658520200 | SPAST | c.415+60G>T (n.415+60G>T) c.299+60G>T c.285+60G>T c.157+60G>T (n.157+60G>T) c.291+60G>T c.256+60G>T (n.256+60G>T) c.36+60G>T c.249+60G>T | gnomAD v4 |
2 | g.32064307G>A | CA531769507 | SPAST | c.415+61G>A (n.415+61G>A) c.299+61G>A c.285+61G>A c.157+61G>A (n.157+61G>A) c.291+61G>A c.256+61G>A (n.256+61G>A) c.36+61G>A c.249+61G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064307G= | CA1242461886 | SPAST | c.415+61G= (n.415+61G=) c.299+61G= c.285+61G= c.157+61G= (n.157+61G=) c.291+61G= c.256+61G= (n.256+61G=) c.36+61G= c.249+61G= | |
2 | g.32064307G>T | CA1242461887 | SPAST | c.415+61G>T (n.415+61G>T) c.299+61G>T c.285+61G>T c.157+61G>T (n.157+61G>T) c.291+61G>T c.256+61G>T (n.256+61G>T) c.36+61G>T c.249+61G>T | dbSNP gnomAD v4 |
2 | g.32064308G>A | CA2576929967 | SPAST | c.415+62G>A (n.415+62G>A) c.299+62G>A c.285+62G>A c.157+62G>A (n.157+62G>A) c.291+62G>A c.256+62G>A (n.256+62G>A) c.36+62G>A c.249+62G>A | gnomAD v4 |
2 | g.32064308G>T | CA2576929968 | SPAST | c.415+62G>T (n.415+62G>T) c.299+62G>T c.285+62G>T c.157+62G>T (n.157+62G>T) c.291+62G>T c.256+62G>T (n.256+62G>T) c.36+62G>T c.249+62G>T | gnomAD v4 |
2 | g.32064309G>A | CA2511713759 | SPAST | c.415+63G>A (n.415+63G>A) c.299+63G>A c.285+63G>A c.157+63G>A (n.157+63G>A) c.291+63G>A c.256+63G>A (n.256+63G>A) c.36+63G>A c.249+63G>A | gnomAD v4 |
2 | g.32064309G>C | CA2658520202 | SPAST | c.415+63G>C (n.415+63G>C) c.299+63G>C c.285+63G>C c.157+63G>C (n.157+63G>C) c.291+63G>C c.256+63G>C (n.256+63G>C) c.36+63G>C c.249+63G>C | gnomAD v4 |
2 | g.32064309G>T | CA2658520201 | SPAST | c.415+63G>T (n.415+63G>T) c.299+63G>T c.285+63G>T c.157+63G>T (n.157+63G>T) c.291+63G>T c.256+63G>T (n.256+63G>T) c.36+63G>T c.249+63G>T | gnomAD v4 |
2 | g.32064309_32064310insC | CA2658520206 | SPAST | c.415+63_415+64insC (n.415+63_415+64insC) c.299+63_299+64insC c.285+63_285+64insC c.157+63_157+64insC (n.157+63_157+64insC) c.291+63_291+64insC c.256+63_256+64insC (n.256+63_256+64insC) c.36+63_36+64insC c.249+63_249+64insC | gnomAD v4 |
2 | g.32064309_32064310insT | CA2658520204 | SPAST | c.415+63_415+64insT (n.415+63_415+64insT) c.299+63_299+64insT c.285+63_285+64insT c.157+63_157+64insT (n.157+63_157+64insT) c.291+63_291+64insT c.256+63_256+64insT (n.256+63_256+64insT) c.36+63_36+64insT c.249+63_249+64insT | gnomAD v4 |
2 | g.32064309_32064310insGC | CA2658520203 | SPAST | c.415+63_415+64insGC (n.415+63_415+64insGC) c.299+63_299+64insGC c.285+63_285+64insGC c.157+63_157+64insGC (n.157+63_157+64insGC) c.291+63_291+64insGC c.256+63_256+64insGC (n.256+63_256+64insGC) c.36+63_36+64insGC c.249+63_249+64insGC | gnomAD v4 |
2 | g.32064310del | CA2658520205 | SPAST | c.415+64del (n.415+64del) c.299+64del c.285+64del c.157+64del (n.157+64del) c.291+64del c.256+64del (n.256+64del) c.36+64del c.249+64del | gnomAD v4 |
2 | g.32064310A>C | CA2576929969 | SPAST | c.415+64A>C (n.415+64A>C) c.299+64A>C c.285+64A>C c.157+64A>C (n.157+64A>C) c.291+64A>C c.256+64A>C (n.256+64A>C) c.36+64A>C c.249+64A>C | dbSNP gnomAD v4 |
2 | g.32064310A>G | CA2576929970 | SPAST | c.415+64A>G (n.415+64A>G) c.299+64A>G c.285+64A>G c.157+64A>G (n.157+64A>G) c.291+64A>G c.256+64A>G (n.256+64A>G) c.36+64A>G c.249+64A>G | gnomAD v4 |
2 | g.32064310A>T | CA2576929971 | SPAST | c.415+64A>T (n.415+64A>T) c.299+64A>T c.285+64A>T c.157+64A>T (n.157+64A>T) c.291+64A>T c.256+64A>T (n.256+64A>T) c.36+64A>T c.249+64A>T | gnomAD v4 |
2 | g.32064311G>A | CA531769508 | SPAST | c.415+65G>A (n.415+65G>A) c.299+65G>A c.285+65G>A c.157+65G>A (n.157+65G>A) c.291+65G>A c.256+65G>A (n.256+65G>A) c.36+65G>A c.249+65G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064311G>C | CA1242461888 | SPAST | c.415+65G>C (n.415+65G>C) c.299+65G>C c.285+65G>C c.157+65G>C (n.157+65G>C) c.291+65G>C c.256+65G>C (n.256+65G>C) c.36+65G>C c.249+65G>C | dbSNP |
2 | g.32064311G= | CA1242461889 | SPAST | c.415+65G= (n.415+65G=) c.299+65G= c.285+65G= c.157+65G= (n.157+65G=) c.291+65G= c.256+65G= (n.256+65G=) c.36+65G= c.249+65G= | |
2 | g.32064311G>T | CA2658520208 | SPAST | c.415+65G>T (n.415+65G>T) c.299+65G>T c.285+65G>T c.157+65G>T (n.157+65G>T) c.291+65G>T c.256+65G>T (n.256+65G>T) c.36+65G>T c.249+65G>T | gnomAD v4 |
2 | g.32064313del | CA2658520207 | SPAST | c.415+67del (n.415+67del) c.299+67del c.285+67del c.157+67del (n.157+67del) c.291+67del c.256+67del (n.256+67del) c.36+67del c.249+67del | gnomAD v4 |