| 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.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 |