| 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.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.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.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 |