UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32089500T>C | CA45205054 | SPAST | c.*163-22T>C (n.*163-22T>C) c.503-22T>C (n.503-22T>C) c.500-22T>C (n.500-22T>C) c.387-22T>C c.373-22T>C c.245-22T>C (n.245-22T>C) c.88-22T>C c.379-22T>C c.459-22T>C (n.459-22T>C) c.37-9296T>C c.337-22T>C n.200-22T>C c.78-22T>C | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.32089500T= | CA1242477038 | SPAST | c.*163-22T= (n.*163-22T=) c.503-22T= (n.503-22T=) c.500-22T= (n.500-22T=) c.387-22T= c.373-22T= c.245-22T= (n.245-22T=) c.88-22T= c.379-22T= c.459-22T= (n.459-22T=) c.37-9296T= c.337-22T= n.200-22T= c.78-22T= | |
| 2 | g.32089501T>C | CA2658521862 | SPAST | c.*163-21T>C (n.*163-21T>C) c.503-21T>C (n.503-21T>C) c.500-21T>C (n.500-21T>C) c.387-21T>C c.373-21T>C c.245-21T>C (n.245-21T>C) c.88-21T>C c.379-21T>C c.459-21T>C (n.459-21T>C) c.37-9295T>C c.337-21T>C n.200-21T>C c.78-21T>C | gnomAD v4 |
| 2 | g.32089502A>G | CA2658521863 | SPAST | c.*163-20A>G (n.*163-20A>G) c.503-20A>G (n.503-20A>G) c.500-20A>G (n.500-20A>G) c.387-20A>G c.373-20A>G c.245-20A>G (n.245-20A>G) c.88-20A>G c.379-20A>G c.459-20A>G (n.459-20A>G) c.37-9294A>G c.337-20A>G n.200-20A>G c.78-20A>G | gnomAD v4 |
| 2 | g.32089502A>T | CA2576930021 | SPAST | c.*163-20A>T (n.*163-20A>T) c.503-20A>T (n.503-20A>T) c.500-20A>T (n.500-20A>T) c.387-20A>T c.373-20A>T c.245-20A>T (n.245-20A>T) c.88-20A>T c.379-20A>T c.459-20A>T (n.459-20A>T) c.37-9294A>T c.337-20A>T n.200-20A>T c.78-20A>T | gnomAD v4 |
| 2 | g.32089503A>G | CA2658521864 | SPAST | c.*163-19A>G (n.*163-19A>G) c.503-19A>G (n.503-19A>G) c.500-19A>G (n.500-19A>G) c.387-19A>G c.373-19A>G c.245-19A>G (n.245-19A>G) c.88-19A>G c.379-19A>G c.459-19A>G (n.459-19A>G) c.37-9293A>G c.337-19A>G n.200-19A>G c.78-19A>G | gnomAD v4 |
| 2 | g.32089504T>C | CA2658521865 | SPAST | c.*163-18T>C (n.*163-18T>C) c.503-18T>C (n.503-18T>C) c.500-18T>C (n.500-18T>C) c.387-18T>C c.373-18T>C c.245-18T>C (n.245-18T>C) c.88-18T>C c.379-18T>C c.459-18T>C (n.459-18T>C) c.37-9292T>C c.337-18T>C n.200-18T>C c.78-18T>C | gnomAD v4 |
| 2 | g.32089505T>C | CA2658521866 | SPAST | c.*163-17T>C (n.*163-17T>C) c.503-17T>C (n.503-17T>C) c.500-17T>C (n.500-17T>C) c.387-17T>C c.373-17T>C c.245-17T>C (n.245-17T>C) c.88-17T>C c.379-17T>C c.459-17T>C (n.459-17T>C) c.37-9291T>C c.337-17T>C n.200-17T>C c.78-17T>C | gnomAD v4 |
| 2 | g.32089506A>C | CA2699032001 | SPAST | c.*163-16A>C (n.*163-16A>C) c.503-16A>C (n.503-16A>C) c.500-16A>C (n.500-16A>C) c.387-16A>C c.373-16A>C c.245-16A>C (n.245-16A>C) c.88-16A>C c.379-16A>C c.459-16A>C (n.459-16A>C) c.37-9290A>C c.337-16A>C n.200-16A>C c.78-16A>C | dbSNP |
| 2 | g.32089506A>G | CA2658521868 | SPAST | c.*163-16A>G (n.*163-16A>G) c.503-16A>G (n.503-16A>G) c.500-16A>G (n.500-16A>G) c.387-16A>G c.373-16A>G c.245-16A>G (n.245-16A>G) c.88-16A>G c.379-16A>G c.459-16A>G (n.459-16A>G) c.37-9290A>G c.337-16A>G n.200-16A>G c.78-16A>G | gnomAD v4 |
| 2 | g.32089506A>T | CA2576930022 | SPAST | c.*163-16A>T (n.*163-16A>T) c.503-16A>T (n.503-16A>T) c.500-16A>T (n.500-16A>T) c.387-16A>T c.373-16A>T c.245-16A>T (n.245-16A>T) c.88-16A>T c.379-16A>T c.459-16A>T (n.459-16A>T) c.37-9290A>T c.337-16A>T n.200-16A>T c.78-16A>T | gnomAD v4 |
| 2 | g.32089507del | CA2658521867 | SPAST | c.*163-15del (n.*163-15del) c.503-15del (n.503-15del) c.500-15del (n.500-15del) c.387-15del c.373-15del c.245-15del (n.245-15del) c.88-15del c.379-15del c.459-15del (n.459-15del) c.37-9289del c.337-15del n.200-15del c.78-15del | gnomAD v4 |
| 2 | g.32089507A>G | CA2658521869 | SPAST | c.*163-15A>G (n.*163-15A>G) c.503-15A>G (n.503-15A>G) c.500-15A>G (n.500-15A>G) c.387-15A>G c.373-15A>G c.245-15A>G (n.245-15A>G) c.88-15A>G c.379-15A>G c.459-15A>G (n.459-15A>G) c.37-9289A>G c.337-15A>G n.200-15A>G c.78-15A>G | gnomAD v4 |
| 2 | g.32089507A>T | CA2658521870 | SPAST | c.*163-15A>T (n.*163-15A>T) c.503-15A>T (n.503-15A>T) c.500-15A>T (n.500-15A>T) c.387-15A>T c.373-15A>T c.245-15A>T (n.245-15A>T) c.88-15A>T c.379-15A>T c.459-15A>T (n.459-15A>T) c.37-9289A>T c.337-15A>T n.200-15A>T c.78-15A>T | gnomAD v4 |
| 2 | g.32089507_32089508delinsAT | CA1242477039 | SPAST | c.*163-15_*163-14delinsAT (n.*163-15_*163-14delinsAT) c.503-15_503-14delinsAT (n.503-15_503-14delinsAT) c.500-15_500-14delinsAT (n.500-15_500-14delinsAT) c.387-15_387-14delinsAT c.373-15_373-14delinsAT c.245-15_245-14delinsAT (n.245-15_245-14delinsAT) c.88-15_88-14delinsAT c.379-15_379-14delinsAT c.459-15_459-14delinsAT (n.459-15_459-14delinsAT) c.37-9289_37-9288delinsAT c.337-15_337-14delinsAT n.200-15_200-14delinsAT c.78-15_78-14delinsAT | |
| 2 | g.32089508T>A | CA1029013216 | SPAST | c.*163-14T>A (n.*163-14T>A) c.503-14T>A (n.503-14T>A) c.500-14T>A (n.500-14T>A) c.387-14T>A c.373-14T>A c.245-14T>A (n.245-14T>A) c.88-14T>A c.379-14T>A c.459-14T>A (n.459-14T>A) c.37-9288T>A c.337-14T>A n.200-14T>A c.78-14T>A | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.32089508T= | CA1242477040 | SPAST | c.*163-14T= (n.*163-14T=) c.503-14T= (n.503-14T=) c.500-14T= (n.500-14T=) c.387-14T= c.373-14T= c.245-14T= (n.245-14T=) c.88-14T= c.379-14T= c.459-14T= (n.459-14T=) c.37-9288T= c.337-14T= n.200-14T= c.78-14T= | |
| 2 | g.32089514dup | CA1242477041 | SPAST | c.*163-8dup (n.*163-8dup) c.503-8dup (n.503-8dup) c.500-8dup (n.500-8dup) c.387-8dup c.373-8dup c.245-8dup (n.245-8dup) c.88-8dup c.379-8dup c.459-8dup (n.459-8dup) c.37-9282dup c.337-8dup n.200-8dup c.78-8dup | ClinVar dbSNP gnomAD v4 |
| 2 | g.32089514del | CA1600613 | SPAST | c.*163-8del (n.*163-8del) c.503-8del (n.503-8del) c.500-8del (n.500-8del) c.387-8del c.373-8del c.245-8del (n.245-8del) c.88-8del c.379-8del c.459-8del (n.459-8del) c.37-9282del c.337-8del n.200-8del c.78-8del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32089509T>C | CA1600614 | SPAST | c.*163-13T>C (n.*163-13T>C) c.503-13T>C (n.503-13T>C) c.500-13T>C (n.500-13T>C) c.387-13T>C c.373-13T>C c.245-13T>C (n.245-13T>C) c.88-13T>C c.379-13T>C c.459-13T>C (n.459-13T>C) c.37-9287T>C c.337-13T>C n.200-13T>C c.78-13T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32089509T>G | CA2576930023 | SPAST | c.*163-13T>G (n.*163-13T>G) c.503-13T>G (n.503-13T>G) c.500-13T>G (n.500-13T>G) c.387-13T>G c.373-13T>G c.245-13T>G (n.245-13T>G) c.88-13T>G c.379-13T>G c.459-13T>G (n.459-13T>G) c.37-9287T>G c.337-13T>G n.200-13T>G c.78-13T>G | |
| 2 | g.32089509T= | CA1242477042 | SPAST | c.*163-13T= (n.*163-13T=) c.503-13T= (n.503-13T=) c.500-13T= (n.500-13T=) c.387-13T= c.373-13T= c.245-13T= (n.245-13T=) c.88-13T= c.379-13T= c.459-13T= (n.459-13T=) c.37-9287T= c.337-13T= n.200-13T= c.78-13T= | |
| 2 | g.32089510T>C | CA2658521871 | SPAST | c.*163-12T>C (n.*163-12T>C) c.503-12T>C (n.503-12T>C) c.500-12T>C (n.500-12T>C) c.387-12T>C c.373-12T>C c.245-12T>C (n.245-12T>C) c.88-12T>C c.379-12T>C c.459-12T>C (n.459-12T>C) c.37-9286T>C c.337-12T>C n.200-12T>C c.78-12T>C | gnomAD v4 |
| 2 | g.32089511T>C | CA2658521872 | SPAST | c.*163-11T>C (n.*163-11T>C) c.503-11T>C (n.503-11T>C) c.500-11T>C (n.500-11T>C) c.387-11T>C c.373-11T>C c.245-11T>C (n.245-11T>C) c.88-11T>C c.379-11T>C c.459-11T>C (n.459-11T>C) c.37-9285T>C c.337-11T>C n.200-11T>C c.78-11T>C | gnomAD v4 |
| 2 | g.32089512T>C | CA2658521873 | SPAST | c.*163-10T>C (n.*163-10T>C) c.503-10T>C (n.503-10T>C) c.500-10T>C (n.500-10T>C) c.387-10T>C c.373-10T>C c.245-10T>C (n.245-10T>C) c.88-10T>C c.379-10T>C c.459-10T>C (n.459-10T>C) c.37-9284T>C c.337-10T>C n.200-10T>C c.78-10T>C | gnomAD v4 |
| 2 | g.32089513T>C | CA2658521874 | SPAST | c.*163-9T>C (n.*163-9T>C) c.503-9T>C (n.503-9T>C) c.500-9T>C (n.500-9T>C) c.387-9T>C c.373-9T>C c.245-9T>C (n.245-9T>C) c.88-9T>C c.379-9T>C c.459-9T>C (n.459-9T>C) c.37-9283T>C c.337-9T>C n.200-9T>C c.78-9T>C | gnomAD v4 |
| 2 | g.32089514T>C | CA2658521875 | SPAST | c.*163-8T>C (n.*163-8T>C) c.503-8T>C (n.503-8T>C) c.500-8T>C (n.500-8T>C) c.387-8T>C c.373-8T>C c.245-8T>C (n.245-8T>C) c.88-8T>C c.379-8T>C c.459-8T>C (n.459-8T>C) c.37-9282T>C c.337-8T>C n.200-8T>C c.78-8T>C | gnomAD v4 |
| 2 | g.32089514T>G | CA2576930024 | SPAST | c.*163-8T>G (n.*163-8T>G) c.503-8T>G (n.503-8T>G) c.500-8T>G (n.500-8T>G) c.387-8T>G c.373-8T>G c.245-8T>G (n.245-8T>G) c.88-8T>G c.379-8T>G c.459-8T>G (n.459-8T>G) c.37-9282T>G c.337-8T>G n.200-8T>G c.78-8T>G | |
| 2 | g.32089515C>A | CA2658521876 | SPAST | c.*163-7C>A (n.*163-7C>A) c.503-7C>A (n.503-7C>A) c.500-7C>A (n.500-7C>A) c.387-7C>A c.373-7C>A c.245-7C>A (n.245-7C>A) c.88-7C>A c.379-7C>A c.459-7C>A (n.459-7C>A) c.37-9281C>A c.337-7C>A n.200-7C>A c.78-7C>A | gnomAD v4 |
| 2 | g.32089515C>T | CA2576930025 | SPAST | c.*163-7C>T (n.*163-7C>T) c.503-7C>T (n.503-7C>T) c.500-7C>T (n.500-7C>T) c.387-7C>T c.373-7C>T c.245-7C>T (n.245-7C>T) c.88-7C>T c.379-7C>T c.459-7C>T (n.459-7C>T) c.37-9281C>T c.337-7C>T n.200-7C>T c.78-7C>T | |
| 2 | g.32089516T>A | CA2576930026 | SPAST | c.*163-6T>A (n.*163-6T>A) c.503-6T>A (n.503-6T>A) c.500-6T>A (n.500-6T>A) c.387-6T>A c.373-6T>A c.245-6T>A (n.245-6T>A) c.88-6T>A c.379-6T>A c.459-6T>A (n.459-6T>A) c.37-9280T>A c.337-6T>A n.200-6T>A c.78-6T>A | |
| 2 | g.32089516T>C | CA2658521877 | SPAST | c.*163-6T>C (n.*163-6T>C) c.503-6T>C (n.503-6T>C) c.500-6T>C (n.500-6T>C) c.387-6T>C c.373-6T>C c.245-6T>C (n.245-6T>C) c.88-6T>C c.379-6T>C c.459-6T>C (n.459-6T>C) c.37-9280T>C c.337-6T>C n.200-6T>C c.78-6T>C | gnomAD v4 |
| 2 | g.32089517T>C | CA2658521878 | SPAST | c.*163-5T>C (n.*163-5T>C) c.503-5T>C (n.503-5T>C) c.500-5T>C (n.500-5T>C) c.387-5T>C c.373-5T>C c.245-5T>C (n.245-5T>C) c.88-5T>C c.379-5T>C c.459-5T>C (n.459-5T>C) c.37-9279T>C c.337-5T>C n.200-5T>C c.78-5T>C | gnomAD v4 |
| 2 | g.32089518T>A | CA1600615 | SPAST | c.*163-4T>A (n.*163-4T>A) c.503-4T>A (n.503-4T>A) c.500-4T>A (n.500-4T>A) c.387-4T>A c.373-4T>A c.245-4T>A (n.245-4T>A) c.88-4T>A c.379-4T>A c.459-4T>A (n.459-4T>A) c.37-9278T>A c.337-4T>A n.200-4T>A c.78-4T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32089518T>C | CA2658521879 | SPAST | c.*163-4T>C (n.*163-4T>C) c.503-4T>C (n.503-4T>C) c.500-4T>C (n.500-4T>C) c.387-4T>C c.373-4T>C c.245-4T>C (n.245-4T>C) c.88-4T>C c.379-4T>C c.459-4T>C (n.459-4T>C) c.37-9278T>C c.337-4T>C n.200-4T>C c.78-4T>C | gnomAD v4 |
| 2 | g.32089518T= | CA1242477043 | SPAST | c.*163-4T= (n.*163-4T=) c.503-4T= (n.503-4T=) c.500-4T= (n.500-4T=) c.387-4T= c.373-4T= c.245-4T= (n.245-4T=) c.88-4T= c.379-4T= c.459-4T= (n.459-4T=) c.37-9278T= c.337-4T= n.200-4T= c.78-4T= | |
| 2 | g.32089519C>A | CA2658521880 | SPAST | c.*163-3C>A (n.*163-3C>A) c.503-3C>A (n.503-3C>A) c.500-3C>A (n.500-3C>A) c.387-3C>A c.373-3C>A c.245-3C>A (n.245-3C>A) c.88-3C>A c.379-3C>A c.459-3C>A (n.459-3C>A) c.37-9277C>A c.337-3C>A n.200-3C>A c.78-3C>A | gnomAD v4 |
| 2 | g.32089519C>T | CA2576930027 | SPAST | c.*163-3C>T (n.*163-3C>T) c.503-3C>T (n.503-3C>T) c.500-3C>T (n.500-3C>T) c.387-3C>T c.373-3C>T c.245-3C>T (n.245-3C>T) c.88-3C>T c.379-3C>T c.459-3C>T (n.459-3C>T) c.37-9277C>T c.337-3C>T n.200-3C>T c.78-3C>T | gnomAD v4 |
| 2 | g.32089520A>C | CA346603415 | SPAST | c.*163-2A>C (n.*163-2A>C) c.503-2A>C (n.503-2A>C) c.500-2A>C (n.500-2A>C) c.387-2A>C c.373-2A>C c.245-2A>C (n.245-2A>C) c.88-2A>C c.379-2A>C c.459-2A>C (n.459-2A>C) c.37-9276A>C c.337-2A>C n.200-2A>C c.78-2A>C | |
| 2 | g.32089520A>G | CA346603416 | SPAST | c.*163-2A>G (n.*163-2A>G) c.503-2A>G (n.503-2A>G) c.500-2A>G (n.500-2A>G) c.387-2A>G c.373-2A>G c.245-2A>G (n.245-2A>G) c.88-2A>G c.379-2A>G c.459-2A>G (n.459-2A>G) c.37-9276A>G c.337-2A>G n.200-2A>G c.78-2A>G | gnomAD v4 |
| 2 | g.32089520A>T | CA346603417 | SPAST | c.*163-2A>T (n.*163-2A>T) c.503-2A>T (n.503-2A>T) c.500-2A>T (n.500-2A>T) c.387-2A>T c.373-2A>T c.245-2A>T (n.245-2A>T) c.88-2A>T c.379-2A>T c.459-2A>T (n.459-2A>T) c.37-9276A>T c.337-2A>T n.200-2A>T c.78-2A>T | gnomAD v4 |
| 2 | g.32089521G>A | CA346603418 | SPAST | c.*163-1G>A (n.*163-1G>A) c.503-1G>A (n.503-1G>A) c.500-1G>A (n.500-1G>A) c.387-1G>A c.373-1G>A c.245-1G>A (n.245-1G>A) c.88-1G>A c.379-1G>A c.459-1G>A (n.459-1G>A) c.37-9275G>A c.337-1G>A n.200-1G>A c.78-1G>A | gnomAD v4 |
| 2 | g.32089521G>C | CA346603419 | SPAST | c.*163-1G>C (n.*163-1G>C) c.503-1G>C (n.503-1G>C) c.500-1G>C (n.500-1G>C) c.387-1G>C c.373-1G>C c.245-1G>C (n.245-1G>C) c.88-1G>C c.379-1G>C c.459-1G>C (n.459-1G>C) c.37-9275G>C c.337-1G>C n.200-1G>C c.78-1G>C | |
| 2 | g.32089521G>T | CA346603420 | SPAST | c.*163-1G>T (n.*163-1G>T) c.503-1G>T (n.503-1G>T) c.500-1G>T (n.500-1G>T) c.387-1G>T c.373-1G>T c.245-1G>T (n.245-1G>T) c.88-1G>T c.379-1G>T c.459-1G>T (n.459-1G>T) c.37-9275G>T c.337-1G>T n.200-1G>T c.78-1G>T | gnomAD v4 |
| 2 | g.32089522G>A | CA346603421 | SPAST | c.*163G>A (n.*163G>A) c.503G>A (p.Gly168Asp) c.500G>A (p.Gly167Asp) c.387G>A c.373G>A c.245G>A (p.Gly82Asp) c.88G>A c.379G>A c.459G>A (n.459G>A) c.37-9274G>A c.337G>A n.200G>A c.78G>A | gnomAD v4 |
| 2 | g.32089522G>C | CA346603422 | SPAST | c.*163G>C (n.*163G>C) c.503G>C (p.Gly168Ala) c.500G>C (p.Gly167Ala) c.387G>C c.373G>C c.245G>C (p.Gly82Ala) c.88G>C c.379G>C c.459G>C (n.459G>C) c.37-9274G>C c.337G>C n.200G>C c.78G>C | |
| 2 | g.32089522G= | CA1242477044 | SPAST | c.*163G= (n.*163G=) c.503G= (p.Gly168=) c.500G= (p.Gly167=) c.387G= c.373G= c.245G= (p.Gly82=) c.88G= c.379G= c.459G= (n.459G=) c.37-9274G= c.337G= n.200G= c.78G= | |
| 2 | g.32089522G>T | CA346603423 | SPAST | c.*163G>T (n.*163G>T) c.503G>T (p.Gly168Val) c.500G>T (p.Gly167Val) c.387G>T c.373G>T c.245G>T (p.Gly82Val) c.88G>T c.379G>T c.459G>T (n.459G>T) c.37-9274G>T c.337G>T n.200G>T c.78G>T | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.32089523del | CA2658521881 | SPAST | c.*164del (n.*164del) c.504del (p.Glu169AsnfsTer13) c.501del (p.Glu168AsnfsTer13) c.388del c.374del c.246del (p.Glu83AsnfsTer13) c.89del c.380del c.460del (n.460del) c.37-9273del c.338del n.201del c.79del | gnomAD v4 |
| 2 | g.32089523T>A | CA425581405 | SPAST | c.*164T>A (n.*164T>A) c.504T>A (p.Gly168=) c.501T>A (p.Gly167=) c.388T>A c.374T>A c.246T>A (p.Gly82=) c.89T>A c.380T>A c.460T>A (n.460T>A) c.37-9273T>A c.338T>A n.201T>A c.79T>A | |
| 2 | g.32089523T>C | CA425581406 | SPAST | c.*164T>C (n.*164T>C) c.504T>C (p.Gly168=) c.501T>C (p.Gly167=) c.388T>C c.374T>C c.246T>C (p.Gly82=) c.89T>C c.380T>C c.460T>C (n.460T>C) c.37-9273T>C c.338T>C n.201T>C c.79T>C | gnomAD v4 |
| 2 | g.32089523T>G | CA425581404 | SPAST | c.*164T>G (n.*164T>G) c.504T>G (p.Gly168=) c.501T>G (p.Gly167=) c.388T>G c.374T>G c.246T>G (p.Gly82=) c.89T>G c.380T>G c.460T>G (n.460T>G) c.37-9273T>G c.338T>G n.201T>G c.79T>G | dbSNP |
| 2 | g.32089523T= | CA1242477045 | SPAST | c.*164T= (n.*164T=) c.504T= (p.Gly168=) c.501T= (p.Gly167=) c.388T= c.374T= c.246T= (p.Gly82=) c.89T= c.380T= c.460T= (n.460T=) c.37-9273T= c.338T= n.201T= c.79T= | |
| 2 | g.32089524del | CA425581407 | SPAST | c.*165del (n.*165del) c.505del (p.Glu169AsnfsTer13) c.502del (p.Glu168AsnfsTer13) c.389del c.375del c.247del (p.Glu83AsnfsTer13) c.90del c.381del c.461del (n.461del) c.37-9272del c.339del n.202del c.80del | COSMIC |
| 2 | g.32089524G>A | CA346603424 | SPAST | c.*165G>A (n.*165G>A) c.505G>A (p.Glu169Lys) c.502G>A (p.Glu168Lys) c.389G>A c.375G>A c.247G>A (p.Glu83Lys) c.90G>A c.381G>A c.461G>A (n.461G>A) c.37-9272G>A c.339G>A n.202G>A c.80G>A | gnomAD v4 |
| 2 | g.32089524G>C | CA346603425 | SPAST | c.*165G>C (n.*165G>C) c.505G>C (p.Glu169Gln) c.502G>C (p.Glu168Gln) c.389G>C c.375G>C c.247G>C (p.Glu83Gln) c.90G>C c.381G>C c.461G>C (n.461G>C) c.37-9272G>C c.339G>C n.202G>C c.80G>C | |
| 2 | g.32089524G>T | CA346603426 | SPAST | c.*165G>T (n.*165G>T) c.505G>T (p.Glu169Ter) c.502G>T (p.Glu168Ter) c.389G>T c.375G>T c.247G>T (p.Glu83Ter) c.90G>T c.381G>T c.461G>T (n.461G>T) c.37-9272G>T c.339G>T n.202G>T c.80G>T | gnomAD v4 |
| 2 | g.32089525A>C | CA346603429 | SPAST | c.*166A>C (n.*166A>C) c.506A>C (p.Glu169Ala) c.503A>C (p.Glu168Ala) c.390A>C c.376A>C c.248A>C (p.Glu83Ala) c.91A>C c.382A>C c.462A>C (n.462A>C) c.37-9271A>C c.340A>C n.203A>C c.81A>C | |
| 2 | g.32089525A>G | CA346603428 | SPAST | c.*166A>G (n.*166A>G) c.506A>G (p.Glu169Gly) c.503A>G (p.Glu168Gly) c.390A>G c.376A>G c.248A>G (p.Glu83Gly) c.91A>G c.382A>G c.462A>G (n.462A>G) c.37-9271A>G c.340A>G n.203A>G c.81A>G | gnomAD v4 |
| 2 | g.32089525A>T | CA346603427 | SPAST | c.*166A>T (n.*166A>T) c.506A>T (p.Glu169Val) c.503A>T (p.Glu168Val) c.390A>T c.376A>T c.248A>T (p.Glu83Val) c.91A>T c.382A>T c.462A>T (n.462A>T) c.37-9271A>T c.340A>T n.203A>T c.81A>T | |
| 2 | g.32089526A= | CA1242477046 | SPAST | c.*167A= (n.*167A=) c.507A= (p.Glu169=) c.504A= (p.Glu168=) c.391A= c.377A= c.249A= (p.Glu83=) c.92A= c.383A= c.463A= (n.463A=) c.37-9270A= c.341A= n.204A= c.82A= | |
| 2 | g.32089526A>C | CA346603430 | SPAST | c.*167A>C (n.*167A>C) c.507A>C (p.Glu169Asp) c.504A>C (p.Glu168Asp) c.391A>C c.377A>C c.249A>C (p.Glu83Asp) c.92A>C c.383A>C c.463A>C (n.463A>C) c.37-9270A>C c.341A>C n.204A>C c.82A>C | |
| 2 | g.32089526A>G | CA425581408 | SPAST | c.*167A>G (n.*167A>G) c.507A>G (p.Glu169=) c.504A>G (p.Glu168=) c.391A>G c.377A>G c.249A>G (p.Glu83=) c.92A>G c.383A>G c.463A>G (n.463A>G) c.37-9270A>G c.341A>G n.204A>G c.82A>G | dbSNP gnomAD v4 |
| 2 | g.32089526A>T | CA346603431 | SPAST | c.*167A>T (n.*167A>T) c.507A>T (p.Glu169Asp) c.504A>T (p.Glu168Asp) c.391A>T c.377A>T c.249A>T (p.Glu83Asp) c.92A>T c.383A>T c.463A>T (n.463A>T) c.37-9270A>T c.341A>T n.204A>T c.82A>T | gnomAD v4 |
| 2 | g.32089527_32089528del | CA2586968960 | SPAST | c.*168_*169del (n.*168_*169del) c.508_509del (p.Gln170ValfsTer2) c.505_506del (p.Gln169ValfsTer2) c.392_393del c.378_379del c.250_251del (p.Gln84ValfsTer2) c.93_94del c.384_385del c.464_465del (n.464_465del) c.37-9269_37-9268del c.342_343del n.205_206del c.83_84del | |
| 2 | g.32089527C>A | CA346603432 | SPAST | c.*168C>A (n.*168C>A) c.508C>A (p.Gln170Lys) c.505C>A (p.Gln169Lys) c.392C>A c.378C>A c.250C>A (p.Gln84Lys) c.93C>A c.384C>A c.464C>A (n.464C>A) c.37-9269C>A c.342C>A n.205C>A c.83C>A | gnomAD v4 |
| 2 | g.32089527C= | CA1242477047 | SPAST | c.*168C= (n.*168C=) c.508C= (p.Gln170=) c.505C= (p.Gln169=) c.392C= c.378C= c.250C= (p.Gln84=) c.93C= c.384C= c.464C= (n.464C=) c.37-9269C= c.342C= n.205C= c.83C= | |
| 2 | g.32089527C>G | CA346603433 | SPAST | c.*168C>G (n.*168C>G) c.508C>G (p.Gln170Glu) c.505C>G (p.Gln169Glu) c.392C>G c.378C>G c.250C>G (p.Gln84Glu) c.93C>G c.384C>G c.464C>G (n.464C>G) c.37-9269C>G c.342C>G n.205C>G c.83C>G | |
| 2 | g.32089527C>T | CA10588341 | SPAST | c.*168C>T (n.*168C>T) c.508C>T (p.Gln170Ter) c.505C>T (p.Gln169Ter) c.392C>T c.378C>T c.250C>T (p.Gln84Ter) c.93C>T c.384C>T c.464C>T (n.464C>T) c.37-9269C>T c.342C>T n.205C>T c.83C>T | ClinVar dbSNP gnomAD v4 |
| 2 | g.32089528A>C | CA346603434 | SPAST | c.*169A>C (n.*169A>C) c.509A>C (p.Gln170Pro) c.506A>C (p.Gln169Pro) c.393A>C c.379A>C c.251A>C (p.Gln84Pro) c.94A>C c.385A>C c.465A>C (n.465A>C) c.37-9268A>C c.343A>C n.206A>C c.84A>C | |
| 2 | g.32089528A>G | CA346603435 | SPAST | c.*169A>G (n.*169A>G) c.509A>G (p.Gln170Arg) c.506A>G (p.Gln169Arg) c.393A>G c.379A>G c.251A>G (p.Gln84Arg) c.94A>G c.385A>G c.465A>G (n.465A>G) c.37-9268A>G c.343A>G n.206A>G c.84A>G | gnomAD v4 |
| 2 | g.32089528A>T | CA346603436 | SPAST | c.*169A>T (n.*169A>T) c.509A>T (p.Gln170Leu) c.506A>T (p.Gln169Leu) c.393A>T c.379A>T c.251A>T (p.Gln84Leu) c.94A>T c.385A>T c.465A>T (n.465A>T) c.37-9268A>T c.343A>T n.206A>T c.84A>T | |
| 2 | g.32089528_32089530delinsAGT | CA1242477048 | SPAST | c.*169_*171delinsAGT (n.*169_*171delinsAGT) c.509_511delinsAGT (p.Gln170=) c.506_508delinsAGT (p.Gln169=) c.393_395delinsAGT c.379_381delinsAGT c.251_253delinsAGT (p.Gln84=) c.94_96delinsAGT c.385_387delinsAGT c.465_467delinsAGT (n.465_467delinsAGT) c.37-9268_37-9266delinsAGT c.343_345delinsAGT n.206_208delinsAGT c.84_86delinsAGT | |
| 2 | g.32089529G>A | CA425581409 | SPAST | c.*170G>A (n.*170G>A) c.510G>A (p.Gln170=) c.507G>A (p.Gln169=) c.394G>A c.380G>A c.252G>A (p.Gln84=) c.95G>A c.386G>A c.466G>A (n.466G>A) c.37-9267G>A c.344G>A n.207G>A c.85G>A | gnomAD v4 |
| 2 | g.32089529G>C | CA346603437 | SPAST | c.*170G>C (n.*170G>C) c.510G>C (p.Gln170His) c.507G>C (p.Gln169His) c.394G>C c.380G>C c.252G>C (p.Gln84His) c.95G>C c.386G>C c.466G>C (n.466G>C) c.37-9267G>C c.344G>C n.207G>C c.85G>C | |
| 2 | g.32089529G>T | CA346603438 | SPAST | c.*170G>T (n.*170G>T) c.510G>T (p.Gln170His) c.507G>T (p.Gln169His) c.394G>T c.380G>T c.252G>T (p.Gln84His) c.95G>T c.386G>T c.466G>T (n.466G>T) c.37-9267G>T c.344G>T n.207G>T c.85G>T | gnomAD v4 |
| 2 | g.32089532_32089533del | CA915943757 | SPAST | c.*173_*174del (n.*173_*174del) c.513_514del (p.Cys171Ter) c.510_511del (p.Cys170Ter) c.397_398del c.383_384del c.255_256del (p.Cys85Ter) c.98_99del c.389_390del c.469_470del (n.469_470del) c.37-9264_37-9263del c.347_348del n.210_211del c.88_89del | ClinVar dbSNP |
| 2 | g.32089530T>A | CA346603439 | SPAST | c.*171T>A (n.*171T>A) c.511T>A (p.Cys171Ser) c.508T>A (p.Cys170Ser) c.395T>A c.381T>A c.253T>A (p.Cys85Ser) c.96T>A c.387T>A c.467T>A (n.467T>A) c.37-9266T>A c.345T>A n.208T>A c.86T>A | |
| 2 | g.32089530T>C | CA1600616 | SPAST | c.*171T>C (n.*171T>C) c.511T>C (p.Cys171Arg) c.508T>C (p.Cys170Arg) c.395T>C c.381T>C c.253T>C (p.Cys85Arg) c.96T>C c.387T>C c.467T>C (n.467T>C) c.37-9266T>C c.345T>C n.208T>C c.86T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.32089530T>G | CA346603440 | SPAST | c.*171T>G (n.*171T>G) c.511T>G (p.Cys171Gly) c.508T>G (p.Cys170Gly) c.395T>G c.381T>G c.253T>G (p.Cys85Gly) c.96T>G c.387T>G c.467T>G (n.467T>G) c.37-9266T>G c.345T>G n.208T>G c.86T>G | |
| 2 | g.32089530T= | CA1242477049 | SPAST | c.*171T= (n.*171T=) c.511T= (p.Cys171=) c.508T= (p.Cys170=) c.395T= c.381T= c.253T= (p.Cys85=) c.96T= c.387T= c.467T= (n.467T=) c.37-9266T= c.345T= n.208T= c.86T= | |
| 2 | g.32089531G>A | CA346603443 | SPAST | c.*172G>A (n.*172G>A) c.512G>A (p.Cys171Tyr) c.509G>A (p.Cys170Tyr) c.396G>A c.382G>A c.254G>A (p.Cys85Tyr) c.97G>A c.388G>A c.468G>A (n.468G>A) c.37-9265G>A c.346G>A n.209G>A c.87G>A | gnomAD v4 |
| 2 | g.32089531G>C | CA346603441 | SPAST | c.*172G>C (n.*172G>C) c.512G>C (p.Cys171Ser) c.509G>C (p.Cys170Ser) c.396G>C c.382G>C c.254G>C (p.Cys85Ser) c.97G>C c.388G>C c.468G>C (n.468G>C) c.37-9265G>C c.346G>C n.209G>C c.87G>C | |
| 2 | g.32089531G>T | CA346603442 | SPAST | c.*172G>T (n.*172G>T) c.512G>T (p.Cys171Phe) c.509G>T (p.Cys170Phe) c.396G>T c.382G>T c.254G>T (p.Cys85Phe) c.97G>T c.388G>T c.468G>T (n.468G>T) c.37-9265G>T c.346G>T n.209G>T c.87G>T | |
| 2 | g.32089532T>A | CA346603444 | SPAST | c.*173T>A (n.*173T>A) c.513T>A (p.Cys171Ter) c.510T>A (p.Cys170Ter) c.397T>A c.383T>A c.255T>A (p.Cys85Ter) c.98T>A c.389T>A c.469T>A (n.469T>A) c.37-9264T>A c.347T>A n.210T>A c.88T>A | |
| 2 | g.32089532T>C | CA425581410 | SPAST | c.*173T>C (n.*173T>C) c.513T>C (p.Cys171=) c.510T>C (p.Cys170=) c.397T>C c.383T>C c.255T>C (p.Cys85=) c.98T>C c.389T>C c.469T>C (n.469T>C) c.37-9264T>C c.347T>C n.210T>C c.88T>C | gnomAD v4 |
| 2 | g.32089532T>G | CA346603445 | SPAST | c.*173T>G (n.*173T>G) c.513T>G (p.Cys171Trp) c.510T>G (p.Cys170Trp) c.397T>G c.383T>G c.255T>G (p.Cys85Trp) c.98T>G c.389T>G c.469T>G (n.469T>G) c.37-9264T>G c.347T>G n.210T>G c.88T>G | |
| 2 | g.32089533G>A | CA346603446 | SPAST | c.*174G>A (n.*174G>A) c.514G>A (p.Glu172Lys) c.511G>A (p.Glu171Lys) c.398G>A c.384G>A c.256G>A (p.Glu86Lys) c.99G>A c.390G>A c.470G>A (n.470G>A) c.37-9263G>A c.348G>A n.211G>A c.89G>A | |
| 2 | g.32089533G>C | CA346603447 | SPAST | c.*174G>C (n.*174G>C) c.514G>C (p.Glu172Gln) c.511G>C (p.Glu171Gln) c.398G>C c.384G>C c.256G>C (p.Glu86Gln) c.99G>C c.390G>C c.470G>C (n.470G>C) c.37-9263G>C c.348G>C n.211G>C c.89G>C | gnomAD v4 |
| 2 | g.32089533G>T | CA346603448 | SPAST | c.*174G>T (n.*174G>T) c.514G>T (p.Glu172Ter) c.511G>T (p.Glu171Ter) c.398G>T c.384G>T c.256G>T (p.Glu86Ter) c.99G>T c.390G>T c.470G>T (n.470G>T) c.37-9263G>T c.348G>T n.211G>T c.89G>T | ClinVar dbSNP |
| 2 | g.32089534A>C | CA346603449 | SPAST | c.*175A>C (n.*175A>C) c.515A>C (p.Glu172Ala) c.512A>C (p.Glu171Ala) c.399A>C c.385A>C c.257A>C (p.Glu86Ala) c.100A>C c.391A>C c.471A>C (n.471A>C) c.37-9262A>C c.349A>C n.212A>C c.90A>C | |
| 2 | g.32089534A>G | CA346603450 | SPAST | c.*175A>G (n.*175A>G) c.515A>G (p.Glu172Gly) c.512A>G (p.Glu171Gly) c.399A>G c.385A>G c.257A>G (p.Glu86Gly) c.100A>G c.391A>G c.471A>G (n.471A>G) c.37-9262A>G c.349A>G n.212A>G c.90A>G | |
| 2 | g.32089534A>T | CA346603451 | SPAST | c.*175A>T (n.*175A>T) c.515A>T (p.Glu172Val) c.512A>T (p.Glu171Val) c.399A>T c.385A>T c.257A>T (p.Glu86Val) c.100A>T c.391A>T c.471A>T (n.471A>T) c.37-9262A>T c.349A>T n.212A>T c.90A>T | |
| 2 | g.32089536del | CA2697547951 | SPAST | c.*177del (n.*177del) c.517del (p.Arg173GlufsTer9) c.514del (p.Arg172GlufsTer9) c.401del c.387del c.259del (p.Arg87GlufsTer9) c.102del c.393del c.473del (n.473del) c.37-9260del c.351del n.214del c.92del | ClinVar |
| 2 | g.32089535A>C | CA346603452 | SPAST | c.*176A>C (n.*176A>C) c.516A>C (p.Glu172Asp) c.513A>C (p.Glu171Asp) c.400A>C c.386A>C c.258A>C (p.Glu86Asp) c.101A>C c.392A>C c.472A>C (n.472A>C) c.37-9261A>C c.350A>C n.213A>C c.91A>C | |
| 2 | g.32089535A>G | CA425581411 | SPAST | c.*176A>G (n.*176A>G) c.516A>G (p.Glu172=) c.513A>G (p.Glu171=) c.400A>G c.386A>G c.258A>G (p.Glu86=) c.101A>G c.392A>G c.472A>G (n.472A>G) c.37-9261A>G c.350A>G n.213A>G c.91A>G | gnomAD v4 |
| 2 | g.32089535A>T | CA346603453 | SPAST | c.*176A>T (n.*176A>T) c.516A>T (p.Glu172Asp) c.513A>T (p.Glu171Asp) c.400A>T c.386A>T c.258A>T (p.Glu86Asp) c.101A>T c.392A>T c.472A>T (n.472A>T) c.37-9261A>T c.350A>T n.213A>T c.91A>T | |
| 2 | g.32089536A>C | CA425581412 | SPAST | c.*177A>C (n.*177A>C) c.517A>C (p.Arg173=) c.514A>C (p.Arg172=) c.401A>C c.387A>C c.259A>C (p.Arg87=) c.102A>C c.393A>C c.473A>C (n.473A>C) c.37-9260A>C c.351A>C n.214A>C c.92A>C | |
| 2 | g.32089536A>G | CA346603454 | SPAST | c.*177A>G (n.*177A>G) c.517A>G (p.Arg173Gly) c.514A>G (p.Arg172Gly) c.401A>G c.387A>G c.259A>G (p.Arg87Gly) c.102A>G c.393A>G c.473A>G (n.473A>G) c.37-9260A>G c.351A>G n.214A>G c.92A>G | gnomAD v4 |
| 2 | g.32089536A>T | CA346603455 | SPAST | c.*177A>T (n.*177A>T) c.517A>T (p.Arg173Ter) c.514A>T (p.Arg172Ter) c.401A>T c.387A>T c.259A>T (p.Arg87Ter) c.102A>T c.393A>T c.473A>T (n.473A>T) c.37-9260A>T c.351A>T n.214A>T c.92A>T | |
| 2 | g.32089538_32089539del | CA2586968962 | SPAST | c.*179_*180del (n.*179_*180del) c.519_520del (p.Arg173SerfsTer2) c.516_517del (p.Arg172SerfsTer2) c.403_404del c.389_390del c.261_262del (p.Arg87SerfsTer2) c.104_105del c.395_396del c.475_476del (n.475_476del) c.37-9258_37-9257del c.353_354del n.216_217del c.94_95del | |
| 2 | g.32089537G>A | CA1600617 | SPAST | c.*178G>A (n.*178G>A) c.518G>A (p.Arg173Lys) c.515G>A (p.Arg172Lys) c.402G>A c.388G>A c.260G>A (p.Arg87Lys) c.103G>A c.394G>A c.474G>A (n.474G>A) c.37-9259G>A c.352G>A n.215G>A c.93G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.32089537G>C | CA346603457 | SPAST | c.*178G>C (n.*178G>C) c.518G>C (p.Arg173Thr) c.515G>C (p.Arg172Thr) c.402G>C c.388G>C c.260G>C (p.Arg87Thr) c.103G>C c.394G>C c.474G>C (n.474G>C) c.37-9259G>C c.352G>C n.215G>C c.93G>C | |
| 2 | g.32089537G= | CA1242477050 | SPAST | c.*178G= (n.*178G=) c.518G= (p.Arg173=) c.515G= (p.Arg172=) c.402G= c.388G= c.260G= (p.Arg87=) c.103G= c.394G= c.474G= (n.474G=) c.37-9259G= c.352G= n.215G= c.93G= | |
| 2 | g.32089537G>T | CA346603456 | SPAST | c.*178G>T (n.*178G>T) c.518G>T (p.Arg173Ile) c.515G>T (p.Arg172Ile) c.402G>T c.388G>T c.260G>T (p.Arg87Ile) c.103G>T c.394G>T c.474G>T (n.474G>T) c.37-9259G>T c.352G>T n.215G>T c.93G>T | |
| 2 | g.32089538A= | CA1242477051 | SPAST | c.*179A= (n.*179A=) c.519A= (p.Arg173=) c.516A= (p.Arg172=) c.403A= c.389A= c.261A= (p.Arg87=) c.104A= c.395A= c.475A= (n.475A=) c.37-9258A= c.353A= n.216A= c.94A= | |
| 2 | g.32089538A>C | CA346603458 | SPAST | c.*179A>C (n.*179A>C) c.519A>C (p.Arg173Ser) c.516A>C (p.Arg172Ser) c.403A>C c.389A>C c.261A>C (p.Arg87Ser) c.104A>C c.395A>C c.475A>C (n.475A>C) c.37-9258A>C c.353A>C n.216A>C c.94A>C | |
| 2 | g.32089538A>G | CA425581413 | SPAST | c.*179A>G (n.*179A>G) c.519A>G (p.Arg173=) c.516A>G (p.Arg172=) c.403A>G c.389A>G c.261A>G (p.Arg87=) c.104A>G c.395A>G c.475A>G (n.475A>G) c.37-9258A>G c.353A>G n.216A>G c.94A>G | ClinVar dbSNP gnomAD v4 |
| 2 | g.32089538A>T | CA346603459 | SPAST | c.*179A>T (n.*179A>T) c.519A>T (p.Arg173Ser) c.516A>T (p.Arg172Ser) c.403A>T c.389A>T c.261A>T (p.Arg87Ser) c.104A>T c.395A>T c.475A>T (n.475A>T) c.37-9258A>T c.353A>T n.216A>T c.94A>T | |
| 2 | g.32089540_32089543del | CA2586968963 | SPAST | c.*181_*184del (n.*181_*184del) c.521_524del (p.Ala174AspfsTer7) c.518_521del (p.Ala173AspfsTer7) c.405_408del c.391_394del c.263_266del (p.Ala88AspfsTer7) c.106_109del c.397_400del c.477_480del (n.477_480del) c.37-9256_37-9253del c.355_358del n.218_221del c.96_99del | |
| 2 | g.32089539G>A | CA346603460 | SPAST | c.*180G>A (n.*180G>A) c.520G>A (p.Ala174Thr) c.517G>A (p.Ala173Thr) c.404G>A c.390G>A c.262G>A (p.Ala88Thr) c.105G>A c.396G>A c.476G>A (n.476G>A) c.37-9257G>A c.354G>A n.217G>A c.95G>A | |
| 2 | g.32089539G>C | CA346603461 | SPAST | c.*180G>C (n.*180G>C) c.520G>C (p.Ala174Pro) c.517G>C (p.Ala173Pro) c.404G>C c.390G>C c.262G>C (p.Ala88Pro) c.105G>C c.396G>C c.476G>C (n.476G>C) c.37-9257G>C c.354G>C n.217G>C c.95G>C | |
| 2 | g.32089539G>T | CA346603462 | SPAST | c.*180G>T (n.*180G>T) c.520G>T (p.Ala174Ser) c.517G>T (p.Ala173Ser) c.404G>T c.390G>T c.262G>T (p.Ala88Ser) c.105G>T c.396G>T c.476G>T (n.476G>T) c.37-9257G>T c.354G>T n.217G>T c.95G>T | |
| 2 | g.32089539_32089540delinsGC | CA1242477052 | SPAST | c.*180_*181delinsGC (n.*180_*181delinsGC) c.520_521delinsGC (p.Ala174=) c.517_518delinsGC (p.Ala173=) c.404_405delinsGC c.390_391delinsGC c.262_263delinsGC (p.Ala88=) c.105_106delinsGC c.396_397delinsGC c.476_477delinsGC (n.476_477delinsGC) c.37-9257_37-9256delinsGC c.354_355delinsGC n.217_218delinsGC c.95_96delinsGC | |
| 2 | g.32089540del | CA916082168 | SPAST | c.*181del (n.*181del) c.521del (p.Ala174ValfsTer8) c.518del (p.Ala173ValfsTer8) c.405del c.391del c.263del (p.Ala88ValfsTer8) c.106del c.397del c.477del (n.477del) c.37-9256del c.355del n.218del c.96del | ClinVar dbSNP |
| 2 | g.32089540C>A | CA346603463 | SPAST | c.*181C>A (n.*181C>A) c.521C>A (p.Ala174Asp) c.518C>A (p.Ala173Asp) c.405C>A c.391C>A c.263C>A (p.Ala88Asp) c.106C>A c.397C>A c.477C>A (n.477C>A) c.37-9256C>A c.355C>A n.218C>A c.96C>A | gnomAD v4 |
| 2 | g.32089540C>G | CA346603464 | SPAST | c.*181C>G (n.*181C>G) c.521C>G (p.Ala174Gly) c.518C>G (p.Ala173Gly) c.405C>G c.391C>G c.263C>G (p.Ala88Gly) c.106C>G c.397C>G c.477C>G (n.477C>G) c.37-9256C>G c.355C>G n.218C>G c.96C>G | |
| 2 | g.32089540C>T | CA346603465 | SPAST | c.*181C>T (n.*181C>T) c.521C>T (p.Ala174Val) c.518C>T (p.Ala173Val) c.405C>T c.391C>T c.263C>T (p.Ala88Val) c.106C>T c.397C>T c.477C>T (n.477C>T) c.37-9256C>T c.355C>T n.218C>T c.96C>T | gnomAD v4 |
| 2 | g.32089541T>A | CA425581414 | SPAST | c.*182T>A (n.*182T>A) c.522T>A (p.Ala174=) c.519T>A (p.Ala173=) c.406T>A c.392T>A c.264T>A (p.Ala88=) c.107T>A c.398T>A c.478T>A (n.478T>A) c.37-9255T>A c.356T>A n.219T>A c.97T>A | |
| 2 | g.32089541T>C | CA425581415 | SPAST | c.*182T>C (n.*182T>C) c.522T>C (p.Ala174=) c.519T>C (p.Ala173=) c.406T>C c.392T>C c.264T>C (p.Ala88=) c.107T>C c.398T>C c.478T>C (n.478T>C) c.37-9255T>C c.356T>C n.219T>C c.97T>C | |
| 2 | g.32089541T>G | CA425581416 | SPAST | c.*182T>G (n.*182T>G) c.522T>G (p.Ala174=) c.519T>G (p.Ala173=) c.406T>G c.392T>G c.264T>G (p.Ala88=) c.107T>G c.398T>G c.478T>G (n.478T>G) c.37-9255T>G c.356T>G n.219T>G c.97T>G | |
| 2 | g.32089542A= | CA1242477053 | SPAST | c.*183A= (n.*183A=) c.523A= (p.Arg175=) c.520A= (p.Arg174=) c.407A= c.393A= c.265A= (p.Arg89=) c.108A= c.399A= c.479A= (n.479A=) c.37-9254A= c.357A= n.220A= c.98A= | |
| 2 | g.32089542A>C | CA425581417 | SPAST | c.*183A>C (n.*183A>C) c.523A>C (p.Arg175=) c.520A>C (p.Arg174=) c.407A>C c.393A>C c.265A>C (p.Arg89=) c.108A>C c.399A>C c.479A>C (n.479A>C) c.37-9254A>C c.357A>C n.220A>C c.98A>C | |
| 2 | g.32089542A>G | CA346603466 | SPAST | c.*183A>G (n.*183A>G) c.523A>G (p.Arg175Gly) c.520A>G (p.Arg174Gly) c.407A>G c.393A>G c.265A>G (p.Arg89Gly) c.108A>G c.399A>G c.479A>G (n.479A>G) c.37-9254A>G c.357A>G n.220A>G c.98A>G | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.32089542A>T | CA346603467 | SPAST | c.*183A>T (n.*183A>T) c.523A>T (p.Arg175Ter) c.520A>T (p.Arg174Ter) c.407A>T c.393A>T c.265A>T (p.Arg89Ter) c.108A>T c.399A>T c.479A>T (n.479A>T) c.37-9254A>T c.357A>T n.220A>T c.98A>T | |
| 2 | g.32089543_32089544dup | CA2586968965 | SPAST | c.*184_*185dup (n.*184_*185dup) c.524_525dup (p.Arg176AspfsTer7) c.521_522dup (p.Arg175AspfsTer7) c.408_409dup c.394_395dup c.266_267dup (p.Arg90AspfsTer7) c.109_110dup c.400_401dup c.480_481dup (n.480_481dup) c.37-9253_37-9252dup c.358_359dup n.221_222dup c.99_100dup | |
| 2 | g.32089543G>A | CA346603468 | SPAST | c.*184G>A (n.*184G>A) c.524G>A (p.Arg175Lys) c.521G>A (p.Arg174Lys) c.408G>A c.394G>A c.266G>A (p.Arg89Lys) c.109G>A c.400G>A c.480G>A (n.480G>A) c.37-9253G>A c.358G>A n.221G>A c.99G>A | dbSNP |
| 2 | g.32089543G>C | CA346603469 | SPAST | c.*184G>C (n.*184G>C) c.524G>C (p.Arg175Thr) c.521G>C (p.Arg174Thr) c.408G>C c.394G>C c.266G>C (p.Arg89Thr) c.109G>C c.400G>C c.480G>C (n.480G>C) c.37-9253G>C c.358G>C n.221G>C c.99G>C | |
| 2 | g.32089543G= | CA1242477054 | SPAST | c.*184G= (n.*184G=) c.524G= (p.Arg175=) c.521G= (p.Arg174=) c.408G= c.394G= c.266G= (p.Arg89=) c.109G= c.400G= c.480G= (n.480G=) c.37-9253G= c.358G= n.221G= c.99G= | |
| 2 | g.32089543G>T | CA346603470 | SPAST | c.*184G>T (n.*184G>T) c.524G>T (p.Arg175Ile) c.521G>T (p.Arg174Ile) c.408G>T c.394G>T c.266G>T (p.Arg89Ile) c.109G>T c.400G>T c.480G>T (n.480G>T) c.37-9253G>T c.358G>T n.221G>T c.99G>T | |
| 2 | g.32089544A>C | CA346603471 | SPAST | c.*185A>C (n.*185A>C) c.525A>C (p.Arg175Ser) c.522A>C (p.Arg174Ser) c.409A>C c.395A>C c.267A>C (p.Arg89Ser) c.110A>C c.401A>C c.481A>C (n.481A>C) c.37-9252A>C c.359A>C n.222A>C c.100A>C | |
| 2 | g.32089544A>G | CA425581418 | SPAST | c.*185A>G (n.*185A>G) c.525A>G (p.Arg175=) c.522A>G (p.Arg174=) c.409A>G c.395A>G c.267A>G (p.Arg89=) c.110A>G c.401A>G c.481A>G (n.481A>G) c.37-9252A>G c.359A>G n.222A>G c.100A>G | |
| 2 | g.32089544A>T | CA346603472 | SPAST | c.*185A>T (n.*185A>T) c.525A>T (p.Arg175Ser) c.522A>T (p.Arg174Ser) c.409A>T c.395A>T c.267A>T (p.Arg89Ser) c.110A>T c.401A>T c.481A>T (n.481A>T) c.37-9252A>T c.359A>T n.222A>T c.100A>T | |
| 2 | g.32089545C>A | CA346603473 | SPAST | c.*186C>A (n.*186C>A) c.526C>A (p.Arg176Ser) c.523C>A (p.Arg175Ser) c.410C>A c.396C>A c.268C>A (p.Arg90Ser) c.111C>A c.402C>A c.482C>A (n.482C>A) c.37-9251C>A c.360C>A n.223C>A c.101C>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.32089545C= | CA1242477055 | SPAST | c.*186C= (n.*186C=) c.526C= (p.Arg176=) c.523C= (p.Arg175=) c.410C= c.396C= c.268C= (p.Arg90=) c.111C= c.402C= c.482C= (n.482C=) c.37-9251C= c.360C= n.223C= c.101C= | |
| 2 | g.32089545C>G | CA346603474 | SPAST | c.*186C>G (n.*186C>G) c.526C>G (p.Arg176Gly) c.523C>G (p.Arg175Gly) c.410C>G c.396C>G c.268C>G (p.Arg90Gly) c.111C>G c.402C>G c.482C>G (n.482C>G) c.37-9251C>G c.360C>G n.223C>G c.101C>G | dbSNP |
| 2 | g.32089545C>T | CA1600618 | SPAST | c.*186C>T (n.*186C>T) c.526C>T (p.Arg176Cys) c.523C>T (p.Arg175Cys) c.410C>T c.396C>T c.268C>T (p.Arg90Cys) c.111C>T c.402C>T c.482C>T (n.482C>T) c.37-9251C>T c.360C>T n.223C>T c.101C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32089546G>A | CA346603475 | SPAST | c.*187G>A (n.*187G>A) c.527G>A (p.Arg176His) c.524G>A (p.Arg175His) c.411G>A c.397G>A c.269G>A (p.Arg90His) c.112G>A c.403G>A c.483G>A (n.483G>A) c.37-9250G>A c.361G>A n.224G>A c.102G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.32089546G>C | CA346603476 | SPAST | c.*187G>C (n.*187G>C) c.527G>C (p.Arg176Pro) c.524G>C (p.Arg175Pro) c.411G>C c.397G>C c.269G>C (p.Arg90Pro) c.112G>C c.403G>C c.483G>C (n.483G>C) c.37-9250G>C c.361G>C n.224G>C c.102G>C | |
| 2 | g.32089546G= | CA1242477056 | SPAST | c.*187G= (n.*187G=) c.527G= (p.Arg176=) c.524G= (p.Arg175=) c.411G= c.397G= c.269G= (p.Arg90=) c.112G= c.403G= c.483G= (n.483G=) c.37-9250G= c.361G= n.224G= c.102G= | |
| 2 | g.32089546G>T | CA346603477 | SPAST | c.*187G>T (n.*187G>T) c.527G>T (p.Arg176Leu) c.524G>T (p.Arg175Leu) c.411G>T c.397G>T c.269G>T (p.Arg90Leu) c.112G>T c.403G>T c.483G>T (n.483G>T) c.37-9250G>T c.361G>T n.224G>T c.102G>T | gnomAD v4 |
| 2 | g.32089547C>A | CA425581419 | SPAST | c.*188C>A (n.*188C>A) c.528C>A (p.Arg176=) c.525C>A (p.Arg175=) c.412C>A c.398C>A c.270C>A (p.Arg90=) c.113C>A c.404C>A c.484C>A (n.484C>A) c.37-9249C>A c.362C>A n.225C>A c.103C>A | |
| 2 | g.32089547C= | CA1242477057 | SPAST | c.*188C= (n.*188C=) c.528C= (p.Arg176=) c.525C= (p.Arg175=) c.412C= c.398C= c.270C= (p.Arg90=) c.113C= c.404C= c.484C= (n.484C=) c.37-9249C= c.362C= n.225C= c.103C= | |
| 2 | g.32089547C>G | CA45205055 | SPAST | c.*188C>G (n.*188C>G) c.528C>G (p.Arg176=) c.525C>G (p.Arg175=) c.412C>G c.398C>G c.270C>G (p.Arg90=) c.113C>G c.404C>G c.484C>G (n.484C>G) c.37-9249C>G c.362C>G n.225C>G c.103C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32089547C>T | CA425581420 | SPAST | c.*188C>T (n.*188C>T) c.528C>T (p.Arg176=) c.525C>T (p.Arg175=) c.412C>T c.398C>T c.270C>T (p.Arg90=) c.113C>T c.404C>T c.484C>T (n.484C>T) c.37-9249C>T c.362C>T n.225C>T c.103C>T | gnomAD v4 |
| 2 | g.32089548C>A | CA346603478 | SPAST | c.*189C>A (n.*189C>A) c.529C>A (p.Leu177Ile) c.526C>A (p.Leu176Ile) c.413C>A c.399C>A c.271C>A (p.Leu91Ile) c.114C>A c.405C>A c.485C>A (n.485C>A) c.37-9248C>A c.363C>A n.226C>A c.104C>A | |
| 2 | g.32089548C>G | CA346603479 | SPAST | c.*189C>G (n.*189C>G) c.529C>G (p.Leu177Val) c.526C>G (p.Leu176Val) c.413C>G c.399C>G c.271C>G (p.Leu91Val) c.114C>G c.405C>G c.485C>G (n.485C>G) c.37-9248C>G c.363C>G n.226C>G c.104C>G | |
| 2 | g.32089548C>T | CA346603480 | SPAST | c.*189C>T (n.*189C>T) c.529C>T (p.Leu177Phe) c.526C>T (p.Leu176Phe) c.413C>T c.399C>T c.271C>T (p.Leu91Phe) c.114C>T c.405C>T c.485C>T (n.485C>T) c.37-9248C>T c.363C>T n.226C>T c.104C>T | |
| 2 | g.32089549T>A | CA346603481 | SPAST | c.*190T>A (n.*190T>A) c.530T>A (p.Leu177His) c.527T>A (p.Leu176His) c.414T>A c.400T>A c.272T>A (p.Leu91His) c.115T>A c.406T>A c.486T>A (n.486T>A) c.37-9247T>A c.364T>A n.227T>A c.105T>A | |
| 2 | g.32089549T>C | CA346603482 | SPAST | c.*190T>C (n.*190T>C) c.530T>C (p.Leu177Pro) c.527T>C (p.Leu176Pro) c.414T>C c.400T>C c.272T>C (p.Leu91Pro) c.115T>C c.406T>C c.486T>C (n.486T>C) c.37-9247T>C c.364T>C n.227T>C c.105T>C | |
| 2 | g.32089549T>G | CA346603483 | SPAST | c.*190T>G (n.*190T>G) c.530T>G (p.Leu177Arg) c.527T>G (p.Leu176Arg) c.414T>G c.400T>G c.272T>G (p.Leu91Arg) c.115T>G c.406T>G c.486T>G (n.486T>G) c.37-9247T>G c.364T>G n.227T>G c.105T>G | |
| 2 | g.32089550T>A | CA425581421 | SPAST | c.*191T>A (n.*191T>A) c.531T>A (p.Leu177=) c.528T>A (p.Leu176=) c.415T>A c.401T>A c.273T>A (p.Leu91=) c.116T>A c.407T>A c.487T>A (n.487T>A) c.37-9246T>A c.365T>A n.228T>A c.106T>A | |
| 2 | g.32089550T>C | CA425581423 | SPAST | c.*191T>C (n.*191T>C) c.531T>C (p.Leu177=) c.528T>C (p.Leu176=) c.415T>C c.401T>C c.273T>C (p.Leu91=) c.116T>C c.407T>C c.487T>C (n.487T>C) c.37-9246T>C c.365T>C n.228T>C c.106T>C | |
| 2 | g.32089550T>G | CA425581422 | SPAST | c.*191T>G (n.*191T>G) c.531T>G (p.Leu177=) c.528T>G (p.Leu176=) c.415T>G c.401T>G c.273T>G (p.Leu91=) c.116T>G c.407T>G c.487T>G (n.487T>G) c.37-9246T>G c.365T>G n.228T>G c.106T>G | |
| 2 | g.32089551C>A | CA346603484 | SPAST | c.*192C>A (n.*192C>A) c.532C>A (p.Gln178Lys) c.529C>A (p.Gln177Lys) c.416C>A c.402C>A c.274C>A (p.Gln92Lys) c.117C>A c.408C>A c.488C>A (n.488C>A) c.37-9245C>A c.366C>A n.229C>A c.107C>A | |
| 2 | g.32089551C= | CA1242477058 | SPAST | c.*192C= (n.*192C=) c.532C= (p.Gln178=) c.529C= (p.Gln177=) c.416C= c.402C= c.274C= (p.Gln92=) c.117C= c.408C= c.488C= (n.488C=) c.37-9245C= c.366C= n.229C= c.107C= | |
| 2 | g.32089551C>G | CA346603485 | SPAST | c.*192C>G (n.*192C>G) c.532C>G (p.Gln178Glu) c.529C>G (p.Gln177Glu) c.416C>G c.402C>G c.274C>G (p.Gln92Glu) c.117C>G c.408C>G c.488C>G (n.488C>G) c.37-9245C>G c.366C>G n.229C>G c.107C>G | |
| 2 | g.32089551C>T | CA346603486 | SPAST | c.*192C>T (n.*192C>T) c.532C>T (p.Gln178Ter) c.529C>T (p.Gln177Ter) c.416C>T c.402C>T c.274C>T (p.Gln92Ter) c.117C>T c.408C>T c.488C>T (n.488C>T) c.37-9245C>T c.366C>T n.229C>T c.107C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.32089552A>C | CA346603489 | SPAST | c.*193A>C (n.*193A>C) c.533A>C (p.Gln178Pro) c.530A>C (p.Gln177Pro) c.417A>C c.403A>C c.275A>C (p.Gln92Pro) c.118A>C c.409A>C c.489A>C (n.489A>C) c.37-9244A>C c.367A>C n.230A>C c.108A>C | |
| 2 | g.32089552A>G | CA346603487 | SPAST | c.*193A>G (n.*193A>G) c.533A>G (p.Gln178Arg) c.530A>G (p.Gln177Arg) c.417A>G c.403A>G c.275A>G (p.Gln92Arg) c.118A>G c.409A>G c.489A>G (n.489A>G) c.37-9244A>G c.367A>G n.230A>G c.108A>G | gnomAD v4 |
| 2 | g.32089552A>T | CA346603488 | SPAST | c.*193A>T (n.*193A>T) c.533A>T (p.Gln178Leu) c.530A>T (p.Gln177Leu) c.417A>T c.403A>T c.275A>T (p.Gln92Leu) c.118A>T c.409A>T c.489A>T (n.489A>T) c.37-9244A>T c.367A>T n.230A>T c.108A>T | |
| 2 | g.32089553A= | CA1242477059 | SPAST | c.*194A= (n.*194A=) c.534A= (p.Gln178=) c.531A= (p.Gln177=) c.418A= c.404A= c.276A= (p.Gln92=) c.119A= c.410A= c.490A= (n.490A=) c.37-9243A= c.368A= n.231A= c.109A= | |
| 2 | g.32089553A>C | CA346603490 | SPAST | c.*194A>C (n.*194A>C) c.534A>C (p.Gln178His) c.531A>C (p.Gln177His) c.418A>C c.404A>C c.276A>C (p.Gln92His) c.119A>C c.410A>C c.490A>C (n.490A>C) c.37-9243A>C c.368A>C n.231A>C c.109A>C | |
| 2 | g.32089553A>G | CA45205056 | SPAST | c.*194A>G (n.*194A>G) c.534A>G (p.Gln178=) c.531A>G (p.Gln177=) c.418A>G c.404A>G c.276A>G (p.Gln92=) c.119A>G c.410A>G c.490A>G (n.490A>G) c.37-9243A>G c.368A>G n.231A>G c.109A>G | dbSNP gnomAD v4 |
| 2 | g.32089553A>T | CA346603491 | SPAST | c.*194A>T (n.*194A>T) c.534A>T (p.Gln178His) c.531A>T (p.Gln177His) c.418A>T c.404A>T c.276A>T (p.Gln92His) c.119A>T c.410A>T c.490A>T (n.490A>T) c.37-9243A>T c.368A>T n.231A>T c.109A>T | |
| 2 | g.32089554G>A | CA346603492 | SPAST | c.*195G>A (n.*195G>A) c.535G>A (p.Ala179Thr) c.532G>A (p.Ala178Thr) c.419G>A c.405G>A c.277G>A (p.Ala93Thr) c.120G>A c.411G>A c.491G>A (n.491G>A) c.37-9242G>A c.369G>A n.232G>A c.110G>A | dbSNP |
| 2 | g.32089554G>C | CA346603493 | SPAST | c.*195G>C (n.*195G>C) c.535G>C (p.Ala179Pro) c.532G>C (p.Ala178Pro) c.419G>C c.405G>C c.277G>C (p.Ala93Pro) c.120G>C c.411G>C c.491G>C (n.491G>C) c.37-9242G>C c.369G>C n.232G>C c.110G>C | |
| 2 | g.32089554G= | CA1242477060 | SPAST | c.*195G= (n.*195G=) c.535G= (p.Ala179=) c.532G= (p.Ala178=) c.419G= c.405G= c.277G= (p.Ala93=) c.120G= c.411G= c.491G= (n.491G=) c.37-9242G= c.369G= n.232G= c.110G= | |
| 2 | g.32089554G>T | CA346603494 | SPAST | c.*195G>T (n.*195G>T) c.535G>T (p.Ala179Ser) c.532G>T (p.Ala178Ser) c.419G>T c.405G>T c.277G>T (p.Ala93Ser) c.120G>T c.411G>T c.491G>T (n.491G>T) c.37-9242G>T c.369G>T n.232G>T c.110G>T | |
| 2 | g.32089555C>A | CA1600619 | SPAST | c.*196C>A (n.*196C>A) c.536C>A (p.Ala179Asp) c.533C>A (p.Ala178Asp) c.420C>A c.406C>A c.278C>A (p.Ala93Asp) c.121C>A c.412C>A c.492C>A (n.492C>A) c.37-9241C>A c.370C>A n.233C>A c.111C>A | dbSNP ExAC |
| 2 | g.32089555C= | CA1242477061 | SPAST | c.*196C= (n.*196C=) c.536C= (p.Ala179=) c.533C= (p.Ala178=) c.420C= c.406C= c.278C= (p.Ala93=) c.121C= c.412C= c.492C= (n.492C=) c.37-9241C= c.370C= n.233C= c.111C= | |
| 2 | g.32089555C>G | CA346603495 | SPAST | c.*196C>G (n.*196C>G) c.536C>G (p.Ala179Gly) c.533C>G (p.Ala178Gly) c.420C>G c.406C>G c.278C>G (p.Ala93Gly) c.121C>G c.412C>G c.492C>G (n.492C>G) c.37-9241C>G c.370C>G n.233C>G c.111C>G | |
| 2 | g.32089555C>T | CA346603496 | SPAST | c.*196C>T (n.*196C>T) c.536C>T (p.Ala179Val) c.533C>T (p.Ala178Val) c.420C>T c.406C>T c.278C>T (p.Ala93Val) c.121C>T c.412C>T c.492C>T (n.492C>T) c.37-9241C>T c.370C>T n.233C>T c.111C>T | |
| 2 | g.32089556T>A | CA425581424 | SPAST | c.*197T>A (n.*197T>A) c.537T>A (p.Ala179=) c.534T>A (p.Ala178=) c.421T>A c.407T>A c.279T>A (p.Ala93=) c.122T>A c.413T>A c.493T>A (n.493T>A) c.37-9240T>A c.371T>A n.234T>A c.112T>A | |
| 2 | g.32089556T>C | CA425581426 | SPAST | c.*197T>C (n.*197T>C) c.537T>C (p.Ala179=) c.534T>C (p.Ala178=) c.421T>C c.407T>C c.279T>C (p.Ala93=) c.122T>C c.413T>C c.493T>C (n.493T>C) c.37-9240T>C c.371T>C n.234T>C c.112T>C | |
| 2 | g.32089556T>G | CA425581425 | SPAST | c.*197T>G (n.*197T>G) c.537T>G (p.Ala179=) c.534T>G (p.Ala178=) c.421T>G c.407T>G c.279T>G (p.Ala93=) c.122T>G c.413T>G c.493T>G (n.493T>G) c.37-9240T>G c.371T>G n.234T>G c.112T>G | |
| 2 | g.32089557A= | CA1242477062 | SPAST | c.*198A= (n.*198A=) c.538A= (p.Lys180=) c.535A= (p.Lys179=) c.422A= c.408A= c.280A= (p.Lys94=) c.123A= c.414A= c.494A= (n.494A=) c.37-9239A= c.372A= n.235A= c.113A= | |
| 2 | g.32089557A>C | CA346603497 | SPAST | c.*198A>C (n.*198A>C) c.538A>C (p.Lys180Gln) c.535A>C (p.Lys179Gln) c.422A>C c.408A>C c.280A>C (p.Lys94Gln) c.123A>C c.414A>C c.494A>C (n.494A>C) c.37-9239A>C c.372A>C n.235A>C c.113A>C | |
| 2 | g.32089557A>G | CA1600620 | SPAST | c.*198A>G (n.*198A>G) c.538A>G (p.Lys180Glu) c.535A>G (p.Lys179Glu) c.422A>G c.408A>G c.280A>G (p.Lys94Glu) c.123A>G c.414A>G c.494A>G (n.494A>G) c.37-9239A>G c.372A>G n.235A>G c.113A>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.32089557A>T | CA346603498 | SPAST | c.*198A>T (n.*198A>T) c.538A>T (p.Lys180Ter) c.535A>T (p.Lys179Ter) c.422A>T c.408A>T c.280A>T (p.Lys94Ter) c.123A>T c.414A>T c.494A>T (n.494A>T) c.37-9239A>T c.372A>T n.235A>T c.113A>T | |
| 2 | g.32089558A>C | CA346603499 | SPAST | c.*199A>C (n.*199A>C) c.539A>C (p.Lys180Thr) c.536A>C (p.Lys179Thr) c.423A>C c.409A>C c.281A>C (p.Lys94Thr) c.124A>C c.415A>C c.495A>C (n.495A>C) c.37-9238A>C c.373A>C n.236A>C c.114A>C | |
| 2 | g.32089558A>G | CA346603500 | SPAST | c.*199A>G (n.*199A>G) c.539A>G (p.Lys180Arg) c.536A>G (p.Lys179Arg) c.423A>G c.409A>G c.281A>G (p.Lys94Arg) c.124A>G c.415A>G c.495A>G (n.495A>G) c.37-9238A>G c.373A>G n.236A>G c.114A>G | gnomAD v4 |
| 2 | g.32089558A>T | CA346603501 | SPAST | c.*199A>T (n.*199A>T) c.539A>T (p.Lys180Ile) c.536A>T (p.Lys179Ile) c.423A>T c.409A>T c.281A>T (p.Lys94Ile) c.124A>T c.415A>T c.495A>T (n.495A>T) c.37-9238A>T c.373A>T n.236A>T c.114A>T | |
| 2 | g.32089559A>C | CA346603502 | SPAST | c.*200A>C (n.*200A>C) c.540A>C (p.Lys180Asn) c.537A>C (p.Lys179Asn) c.424A>C c.410A>C c.282A>C (p.Lys94Asn) c.125A>C c.416A>C c.496A>C (n.496A>C) c.37-9237A>C c.374A>C n.237A>C c.115A>C | |
| 2 | g.32089559A>G | CA425581427 | SPAST | c.*200A>G (n.*200A>G) c.540A>G (p.Lys180=) c.537A>G (p.Lys179=) c.424A>G c.410A>G c.282A>G (p.Lys94=) c.125A>G c.416A>G c.496A>G (n.496A>G) c.37-9237A>G c.374A>G n.237A>G c.115A>G | |
| 2 | g.32089559A>T | CA346603503 | SPAST | c.*200A>T (n.*200A>T) c.540A>T (p.Lys180Asn) c.537A>T (p.Lys179Asn) c.424A>T c.410A>T c.282A>T (p.Lys94Asn) c.125A>T c.416A>T c.496A>T (n.496A>T) c.37-9237A>T c.374A>T n.237A>T c.115A>T | |
| 2 | g.32089560A>C | CA346603504 | SPAST | c.*201A>C (n.*201A>C) c.541A>C (p.Met181Leu) c.538A>C (p.Met180Leu) c.425A>C c.411A>C c.283A>C (p.Met95Leu) c.126A>C c.417A>C c.497A>C (n.497A>C) c.37-9236A>C c.375A>C n.238A>C c.116A>C | |
| 2 | g.32089560A>G | CA346603505 | SPAST | c.*201A>G (n.*201A>G) c.541A>G (p.Met181Val) c.538A>G (p.Met180Val) c.425A>G c.411A>G c.283A>G (p.Met95Val) c.126A>G c.417A>G c.497A>G (n.497A>G) c.37-9236A>G c.375A>G n.238A>G c.116A>G | |
| 2 | g.32089560A>T | CA346603506 | SPAST | c.*201A>T (n.*201A>T) c.541A>T (p.Met181Leu) c.538A>T (p.Met180Leu) c.425A>T c.411A>T c.283A>T (p.Met95Leu) c.126A>T c.417A>T c.497A>T (n.497A>T) c.37-9236A>T c.375A>T n.238A>T c.116A>T | |
| 2 | g.32089564_32089566del | CA2749389643 | SPAST | c.*205_*207del (n.*205_*207del) c.545_547del (p.Met182del) c.542_544del (p.Met181del) c.429_431del c.415_417del c.287_289del (p.Met96del) c.130_132del c.421_423del c.501_503del (n.501_503del) c.37-9232_37-9230del c.379_381del n.242_244del c.120_122del | |
| 2 | g.32089561T>A | CA346603507 | SPAST | c.*202T>A (n.*202T>A) c.542T>A (p.Met181Lys) c.539T>A (p.Met180Lys) c.426T>A c.412T>A c.284T>A (p.Met95Lys) c.127T>A c.418T>A c.498T>A (n.498T>A) c.37-9235T>A c.376T>A n.239T>A c.117T>A | |
| 2 | g.32089561T>C | CA346603508 | SPAST | c.*202T>C (n.*202T>C) c.542T>C (p.Met181Thr) c.539T>C (p.Met180Thr) c.426T>C c.412T>C c.284T>C (p.Met95Thr) c.127T>C c.418T>C c.498T>C (n.498T>C) c.37-9235T>C c.376T>C n.239T>C c.117T>C | |
| 2 | g.32089561T>G | CA346603509 | SPAST | c.*202T>G (n.*202T>G) c.542T>G (p.Met181Arg) c.539T>G (p.Met180Arg) c.426T>G c.412T>G c.284T>G (p.Met95Arg) c.127T>G c.418T>G c.498T>G (n.498T>G) c.37-9235T>G c.376T>G n.239T>G c.117T>G | |
| 2 | g.32089562G>A | CA346603510 | SPAST | c.*203G>A (n.*203G>A) c.543G>A (p.Met181Ile) c.540G>A (p.Met180Ile) c.427G>A c.413G>A c.285G>A (p.Met95Ile) c.128G>A c.419G>A c.499G>A (n.499G>A) c.37-9234G>A c.377G>A n.240G>A c.118G>A | |
| 2 | g.32089562G>C | CA346603511 | SPAST | c.*203G>C (n.*203G>C) c.543G>C (p.Met181Ile) c.540G>C (p.Met180Ile) c.427G>C c.413G>C c.285G>C (p.Met95Ile) c.128G>C c.419G>C c.499G>C (n.499G>C) c.37-9234G>C c.377G>C n.240G>C c.118G>C | |
| 2 | g.32089562G>T | CA346603512 | SPAST | c.*203G>T (n.*203G>T) c.543G>T (p.Met181Ile) c.540G>T (p.Met180Ile) c.427G>T c.413G>T c.285G>T (p.Met95Ile) c.128G>T c.419G>T c.499G>T (n.499G>T) c.37-9234G>T c.377G>T n.240G>T c.118G>T | |
| 2 | g.32089563A>C | CA346603513 | SPAST | c.*204A>C (n.*204A>C) c.544A>C (p.Met182Leu) c.541A>C (p.Met181Leu) c.428A>C c.414A>C c.286A>C (p.Met96Leu) c.129A>C c.420A>C c.500A>C (n.500A>C) c.37-9233A>C c.378A>C n.241A>C c.119A>C | |
| 2 | g.32089563A>G | CA346603514 | SPAST | c.*204A>G (n.*204A>G) c.544A>G (p.Met182Val) c.541A>G (p.Met181Val) c.428A>G c.414A>G c.286A>G (p.Met96Val) c.129A>G c.420A>G c.500A>G (n.500A>G) c.37-9233A>G c.378A>G n.241A>G c.119A>G | gnomAD v4 |
| 2 | g.32089563A>T | CA346603515 | SPAST | c.*204A>T (n.*204A>T) c.544A>T (p.Met182Leu) c.541A>T (p.Met181Leu) c.428A>T c.414A>T c.286A>T (p.Met96Leu) c.129A>T c.420A>T c.500A>T (n.500A>T) c.37-9233A>T c.378A>T n.241A>T c.119A>T | |
| 2 | g.32089564T>A | CA346603516 | SPAST | c.*205T>A (n.*205T>A) c.545T>A (p.Met182Lys) c.542T>A (p.Met181Lys) c.429T>A c.415T>A c.287T>A (p.Met96Lys) c.130T>A c.421T>A c.501T>A (n.501T>A) c.37-9232T>A c.379T>A n.242T>A c.120T>A | |
| 2 | g.32089564T>C | CA346603518 | SPAST | c.*205T>C (n.*205T>C) c.545T>C (p.Met182Thr) c.542T>C (p.Met181Thr) c.429T>C c.415T>C c.287T>C (p.Met96Thr) c.130T>C c.421T>C c.501T>C (n.501T>C) c.37-9232T>C c.379T>C n.242T>C c.120T>C | gnomAD v4 |
| 2 | g.32089564T>G | CA346603517 | SPAST | c.*205T>G (n.*205T>G) c.545T>G (p.Met182Arg) c.542T>G (p.Met181Arg) c.429T>G c.415T>G c.287T>G (p.Met96Arg) c.130T>G c.421T>G c.501T>G (n.501T>G) c.37-9232T>G c.379T>G n.242T>G c.120T>G | |
| 2 | g.32089565G>A | CA346603519 | SPAST | c.*206G>A (n.*206G>A) c.546G>A (p.Met182Ile) c.543G>A (p.Met181Ile) c.430G>A c.416G>A c.288G>A (p.Met96Ile) c.131G>A c.422G>A c.502G>A (n.502G>A) c.37-9231G>A c.380G>A n.243G>A c.121G>A | |
| 2 | g.32089565G>C | CA346603521 | SPAST | c.*206G>C (n.*206G>C) c.546G>C (p.Met182Ile) c.543G>C (p.Met181Ile) c.430G>C c.416G>C c.288G>C (p.Met96Ile) c.131G>C c.422G>C c.502G>C (n.502G>C) c.37-9231G>C c.380G>C n.243G>C c.121G>C | |
| 2 | g.32089565G>T | CA346603520 | SPAST | c.*206G>T (n.*206G>T) c.546G>T (p.Met182Ile) c.543G>T (p.Met181Ile) c.430G>T c.416G>T c.288G>T (p.Met96Ile) c.131G>T c.422G>T c.502G>T (n.502G>T) c.37-9231G>T c.380G>T n.243G>T c.121G>T | |
| 2 | g.32089566A>C | CA346603522 | SPAST | c.*207A>C (n.*207A>C) c.547A>C (p.Thr183Pro) c.544A>C (p.Thr182Pro) c.431A>C c.417A>C c.289A>C (p.Thr97Pro) c.132A>C c.423A>C c.503A>C (n.503A>C) c.37-9230A>C c.381A>C n.244A>C c.122A>C | |
| 2 | g.32089566A>G | CA346603523 | SPAST | c.*207A>G (n.*207A>G) c.547A>G (p.Thr183Ala) c.544A>G (p.Thr182Ala) c.431A>G c.417A>G c.289A>G (p.Thr97Ala) c.132A>G c.423A>G c.503A>G (n.503A>G) c.37-9230A>G c.381A>G n.244A>G c.122A>G | gnomAD v4 |
| 2 | g.32089566A>T | CA346603524 | SPAST | c.*207A>T (n.*207A>T) c.547A>T (p.Thr183Ser) c.544A>T (p.Thr182Ser) c.431A>T c.417A>T c.289A>T (p.Thr97Ser) c.132A>T c.423A>T c.503A>T (n.503A>T) c.37-9230A>T c.381A>T n.244A>T c.122A>T | |
| 2 | g.32089567C>A | CA346603525 | SPAST | c.*208C>A (n.*208C>A) c.548C>A (p.Thr183Asn) c.545C>A (p.Thr182Asn) c.432C>A c.418C>A c.290C>A (p.Thr97Asn) c.133C>A c.424C>A c.504C>A (n.504C>A) c.37-9229C>A c.382C>A n.245C>A c.123C>A | gnomAD v4 |
| 2 | g.32089567C= | CA1242477063 | SPAST | c.*208C= (n.*208C=) c.548C= (p.Thr183=) c.545C= (p.Thr182=) c.432C= c.418C= c.290C= (p.Thr97=) c.133C= c.424C= c.504C= (n.504C=) c.37-9229C= c.382C= n.245C= c.123C= | |
| 2 | g.32089567C>G | CA346603526 | SPAST | c.*208C>G (n.*208C>G) c.548C>G (p.Thr183Ser) c.545C>G (p.Thr182Ser) c.432C>G c.418C>G c.290C>G (p.Thr97Ser) c.133C>G c.424C>G c.504C>G (n.504C>G) c.37-9229C>G c.382C>G n.245C>G c.123C>G | dbSNP gnomAD v4 |
| 2 | g.32089567C>T | CA346603527 | SPAST | c.*208C>T (n.*208C>T) c.548C>T (p.Thr183Ile) c.545C>T (p.Thr182Ile) c.432C>T c.418C>T c.290C>T (p.Thr97Ile) c.133C>T c.424C>T c.504C>T (n.504C>T) c.37-9229C>T c.382C>T n.245C>T c.123C>T | |
| 2 | g.32089568T>A | CA425581428 | SPAST | c.*209T>A (n.*209T>A) c.549T>A (p.Thr183=) c.546T>A (p.Thr182=) c.433T>A c.419T>A c.291T>A (p.Thr97=) c.134T>A c.425T>A c.505T>A (n.505T>A) c.37-9228T>A c.383T>A n.246T>A c.124T>A | |
| 2 | g.32089568T>C | CA425581429 | SPAST | c.*209T>C (n.*209T>C) c.549T>C (p.Thr183=) c.546T>C (p.Thr182=) c.433T>C c.419T>C c.291T>C (p.Thr97=) c.134T>C c.425T>C c.505T>C (n.505T>C) c.37-9228T>C c.383T>C n.246T>C c.124T>C | gnomAD v4 |
| 2 | g.32089568T>G | CA425581430 | SPAST | c.*209T>G (n.*209T>G) c.549T>G (p.Thr183=) c.546T>G (p.Thr182=) c.433T>G c.419T>G c.291T>G (p.Thr97=) c.134T>G c.425T>G c.505T>G (n.505T>G) c.37-9228T>G c.383T>G n.246T>G c.124T>G | |
| 2 | g.32089568dup | CA915940526 | SPAST | c.*209dup (n.*209dup) c.549dup (p.Asn184Ter) c.546dup (p.Asn183Ter) c.433dup c.419dup c.291dup (p.Asn98Ter) c.134dup c.425dup c.505dup (n.505dup) c.37-9228dup c.383dup n.246dup c.124dup | |
| 2 | g.32089569A>C | CA346603528 | SPAST | c.*210A>C (n.*210A>C) c.550A>C (p.Asn184His) c.547A>C (p.Asn183His) c.434A>C c.420A>C c.292A>C (p.Asn98His) c.135A>C c.426A>C c.506A>C (n.506A>C) c.37-9227A>C c.384A>C n.247A>C c.125A>C | |
| 2 | g.32089569A>G | CA346603529 | SPAST | c.*210A>G (n.*210A>G) c.550A>G (p.Asn184Asp) c.547A>G (p.Asn183Asp) c.434A>G c.420A>G c.292A>G (p.Asn98Asp) c.135A>G c.426A>G c.506A>G (n.506A>G) c.37-9227A>G c.384A>G n.247A>G c.125A>G | |
| 2 | g.32089569A>T | CA346603530 | SPAST | c.*210A>T (n.*210A>T) c.550A>T (p.Asn184Tyr) c.547A>T (p.Asn183Tyr) c.434A>T c.420A>T c.292A>T (p.Asn98Tyr) c.135A>T c.426A>T c.506A>T (n.506A>T) c.37-9227A>T c.384A>T n.247A>T c.125A>T | |
| 2 | g.32089570A= | CA1242477064 | SPAST | c.*211A= (n.*211A=) c.551A= (p.Asn184=) c.548A= (p.Asn183=) c.435A= c.421A= c.293A= (p.Asn98=) c.136A= c.427A= c.507A= (n.507A=) c.37-9226A= c.385A= n.248A= c.126A= | |
| 2 | g.32089570A>C | CA346603531 | SPAST | c.*211A>C (n.*211A>C) c.551A>C (p.Asn184Thr) c.548A>C (p.Asn183Thr) c.435A>C c.421A>C c.293A>C (p.Asn98Thr) c.136A>C c.427A>C c.507A>C (n.507A>C) c.37-9226A>C c.385A>C n.248A>C c.126A>C | dbSNP |
| 2 | g.32089570A>G | CA346603532 | SPAST | c.*211A>G (n.*211A>G) c.551A>G (p.Asn184Ser) c.548A>G (p.Asn183Ser) c.435A>G c.421A>G c.293A>G (p.Asn98Ser) c.136A>G c.427A>G c.507A>G (n.507A>G) c.37-9226A>G c.385A>G n.248A>G c.126A>G | |
| 2 | g.32089570A>T | CA346603533 | SPAST | c.*211A>T (n.*211A>T) c.551A>T (p.Asn184Ile) c.548A>T (p.Asn183Ile) c.435A>T c.421A>T c.293A>T (p.Asn98Ile) c.136A>T c.427A>T c.507A>T (n.507A>T) c.37-9226A>T c.385A>T n.248A>T c.126A>T | |
| 2 | g.32089571T>A | CA346603534 | SPAST | c.*212T>A (n.*212T>A) c.552T>A (p.Asn184Lys) c.549T>A (p.Asn183Lys) c.436T>A c.422T>A c.294T>A (p.Asn98Lys) c.137T>A c.428T>A c.508T>A (n.508T>A) c.37-9225T>A c.386T>A n.249T>A c.127T>A | |
| 2 | g.32089571T>C | CA425581432 | SPAST | c.*212T>C (n.*212T>C) c.552T>C (p.Asn184=) c.549T>C (p.Asn183=) c.436T>C c.422T>C c.294T>C (p.Asn98=) c.137T>C c.428T>C c.508T>C (n.508T>C) c.37-9225T>C c.386T>C n.249T>C c.127T>C | gnomAD v4 |
| 2 | g.32089571T>G | CA346603535 | SPAST | c.*212T>G (n.*212T>G) c.552T>G (p.Asn184Lys) c.549T>G (p.Asn183Lys) c.436T>G c.422T>G c.294T>G (p.Asn98Lys) c.137T>G c.428T>G c.508T>G (n.508T>G) c.37-9225T>G c.386T>G n.249T>G c.127T>G | |
| 2 | g.32089572T>A | CA346603536 | SPAST | c.*213T>A (n.*213T>A) c.553T>A (p.Leu185Met) c.550T>A (p.Leu184Met) c.437T>A c.423T>A c.295T>A (p.Leu99Met) c.138T>A c.429T>A c.509T>A (n.509T>A) c.37-9224T>A c.387T>A n.250T>A c.128T>A | gnomAD v4 |
| 2 | g.32089572T>C | CA425581433 | SPAST | c.*213T>C (n.*213T>C) c.553T>C (p.Leu185=) c.550T>C (p.Leu184=) c.437T>C c.423T>C c.295T>C (p.Leu99=) c.138T>C c.429T>C c.509T>C (n.509T>C) c.37-9224T>C c.387T>C n.250T>C c.128T>C | |
| 2 | g.32089572T>G | CA346603537 | SPAST | c.*213T>G (n.*213T>G) c.553T>G (p.Leu185Val) c.550T>G (p.Leu184Val) c.437T>G c.423T>G c.295T>G (p.Leu99Val) c.138T>G c.429T>G c.509T>G (n.509T>G) c.37-9224T>G c.387T>G n.250T>G c.128T>G | |
| 2 | g.32089573_32089579del | CA2586968974 | SPAST | c.*214_*220del (n.*214_*220del) c.554_560del (p.Leu185TrpfsTer9) c.551_557del (p.Leu184TrpfsTer9) c.438_444del c.424_430del c.296_302del (p.Leu99TrpfsTer9) c.139_145del c.430_436del c.510_516del (n.510_516del) c.37-9223_37-9217del c.388_394del n.251_257del c.129_135del | |
| 2 | g.32089573T>A | CA346603538 | SPAST | c.*214T>A (n.*214T>A) c.554T>A (p.Leu185Ter) c.551T>A (p.Leu184Ter) c.438T>A c.424T>A c.296T>A (p.Leu99Ter) c.139T>A c.430T>A c.510T>A (n.510T>A) c.37-9223T>A c.388T>A n.251T>A c.129T>A | |
| 2 | g.32089573T>C | CA346603539 | SPAST | c.*214T>C (n.*214T>C) c.554T>C (p.Leu185Ser) c.551T>C (p.Leu184Ser) c.438T>C c.424T>C c.296T>C (p.Leu99Ser) c.139T>C c.430T>C c.510T>C (n.510T>C) c.37-9223T>C c.388T>C n.251T>C c.129T>C | |
| 2 | g.32089573T>G | CA346603540 | SPAST | c.*214T>G (n.*214T>G) c.554T>G (p.Leu185Trp) c.551T>G (p.Leu184Trp) c.438T>G c.424T>G c.296T>G (p.Leu99Trp) c.139T>G c.430T>G c.510T>G (n.510T>G) c.37-9223T>G c.388T>G n.251T>G c.129T>G | |
| 2 | g.32089574G>A | CA425581434 | SPAST | c.*215G>A (n.*215G>A) c.555G>A (p.Leu185=) c.552G>A (p.Leu184=) c.439G>A c.425G>A c.297G>A (p.Leu99=) c.140G>A c.431G>A c.511G>A (n.511G>A) c.37-9222G>A c.389G>A n.252G>A c.130G>A | gnomAD v4 |
| 2 | g.32089574G>C | CA1600621 | SPAST | c.*215G>C (n.*215G>C) c.555G>C (p.Leu185Phe) c.552G>C (p.Leu184Phe) c.439G>C c.425G>C c.297G>C (p.Leu99Phe) c.140G>C c.431G>C c.511G>C (n.511G>C) c.37-9222G>C c.389G>C n.252G>C c.130G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32089574G= | CA1242477065 | SPAST | c.*215G= (n.*215G=) c.555G= (p.Leu185=) c.552G= (p.Leu184=) c.439G= c.425G= c.297G= (p.Leu99=) c.140G= c.431G= c.511G= (n.511G=) c.37-9222G= c.389G= n.252G= c.130G= | |
| 2 | g.32089574G>T | CA346603541 | SPAST | c.*215G>T (n.*215G>T) c.555G>T (p.Leu185Phe) c.552G>T (p.Leu184Phe) c.439G>T c.425G>T c.297G>T (p.Leu99Phe) c.140G>T c.431G>T c.511G>T (n.511G>T) c.37-9222G>T c.389G>T n.252G>T c.130G>T | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.32089575G>A | CA346603542 | SPAST | c.*216G>A (n.*216G>A) c.556G>A (p.Val186Ile) c.553G>A (p.Val185Ile) c.440G>A c.426G>A c.298G>A (p.Val100Ile) c.141G>A c.432G>A c.512G>A (n.512G>A) c.37-9221G>A c.390G>A n.253G>A c.131G>A | |
| 2 | g.32089575G>C | CA346603543 | SPAST | c.*216G>C (n.*216G>C) c.556G>C (p.Val186Leu) c.553G>C (p.Val185Leu) c.440G>C c.426G>C c.298G>C (p.Val100Leu) c.141G>C c.432G>C c.512G>C (n.512G>C) c.37-9221G>C c.390G>C n.253G>C c.131G>C | |
| 2 | g.32089575G>T | CA346603544 | SPAST | c.*216G>T (n.*216G>T) c.556G>T (p.Val186Phe) c.553G>T (p.Val185Phe) c.440G>T c.426G>T c.298G>T (p.Val100Phe) c.141G>T c.432G>T c.512G>T (n.512G>T) c.37-9221G>T c.390G>T n.253G>T c.131G>T | |
| 2 | g.32089576T>A | CA346603546 | SPAST | c.*217T>A (n.*217T>A) c.557T>A (p.Val186Asp) c.554T>A (p.Val185Asp) c.441T>A c.427T>A c.299T>A (p.Val100Asp) c.142T>A c.433T>A c.513T>A (n.513T>A) c.37-9220T>A c.391T>A n.254T>A c.132T>A | |
| 2 | g.32089576T>C | CA346603547 | SPAST | c.*217T>C (n.*217T>C) c.557T>C (p.Val186Ala) c.554T>C (p.Val185Ala) c.441T>C c.427T>C c.299T>C (p.Val100Ala) c.142T>C c.433T>C c.513T>C (n.513T>C) c.37-9220T>C c.391T>C n.254T>C c.132T>C | |
| 2 | g.32089576T>G | CA346603545 | SPAST | c.*217T>G (n.*217T>G) c.557T>G (p.Val186Gly) c.554T>G (p.Val185Gly) c.441T>G c.427T>G c.299T>G (p.Val100Gly) c.142T>G c.433T>G c.513T>G (n.513T>G) c.37-9220T>G c.391T>G n.254T>G c.132T>G | |
| 2 | g.32089577del | CA2658521882 | SPAST | c.*218del (n.*218del) c.558del (p.Met187TrpfsTer9) c.555del (p.Met186TrpfsTer9) c.442del c.428del c.300del (p.Met101TrpfsTer9) c.143del c.434del c.514del (n.514del) c.37-9219del c.392del n.255del c.133del | gnomAD v4 |
| 2 | g.32089577T>A | CA425581435 | SPAST | c.*218T>A (n.*218T>A) c.558T>A (p.Val186=) c.555T>A (p.Val185=) c.442T>A c.428T>A c.300T>A (p.Val100=) c.143T>A c.434T>A c.514T>A (n.514T>A) c.37-9219T>A c.392T>A n.255T>A c.133T>A | |
| 2 | g.32089577T>C | CA425581437 | SPAST | c.*218T>C (n.*218T>C) c.558T>C (p.Val186=) c.555T>C (p.Val185=) c.442T>C c.428T>C c.300T>C (p.Val100=) c.143T>C c.434T>C c.514T>C (n.514T>C) c.37-9219T>C c.392T>C n.255T>C c.133T>C | |
| 2 | g.32089577T>G | CA425581436 | SPAST | c.*218T>G (n.*218T>G) c.558T>G (p.Val186=) c.555T>G (p.Val185=) c.442T>G c.428T>G c.300T>G (p.Val100=) c.143T>G c.434T>G c.514T>G (n.514T>G) c.37-9219T>G c.392T>G n.255T>G c.133T>G | |
| 2 | g.32089578A= | CA1242477066 | SPAST | c.*219A= (n.*219A=) c.559A= (p.Met187=) c.556A= (p.Met186=) c.443A= c.429A= c.301A= (p.Met101=) c.144A= c.435A= c.515A= (n.515A=) c.37-9218A= c.393A= n.256A= c.134A= | |
| 2 | g.32089578A>C | CA346603548 | SPAST | c.*219A>C (n.*219A>C) c.559A>C (p.Met187Leu) c.556A>C (p.Met186Leu) c.443A>C c.429A>C c.301A>C (p.Met101Leu) c.144A>C c.435A>C c.515A>C (n.515A>C) c.37-9218A>C c.393A>C n.256A>C c.134A>C | |
| 2 | g.32089578A>G | CA346603549 | SPAST | c.*219A>G (n.*219A>G) c.559A>G (p.Met187Val) c.556A>G (p.Met186Val) c.443A>G c.429A>G c.301A>G (p.Met101Val) c.144A>G c.435A>G c.515A>G (n.515A>G) c.37-9218A>G c.393A>G n.256A>G c.134A>G | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.32089578A>T | CA346603550 | SPAST | c.*219A>T (n.*219A>T) c.559A>T (p.Met187Leu) c.556A>T (p.Met186Leu) c.443A>T c.429A>T c.301A>T (p.Met101Leu) c.144A>T c.435A>T c.515A>T (n.515A>T) c.37-9218A>T c.393A>T n.256A>T c.134A>T | |
| 2 | g.32089579T>A | CA346603551 | SPAST | c.*220T>A (n.*220T>A) c.560T>A (p.Met187Lys) c.557T>A (p.Met186Lys) c.444T>A c.430T>A c.302T>A (p.Met101Lys) c.145T>A c.436T>A c.516T>A (n.516T>A) c.37-9217T>A c.394T>A n.257T>A c.135T>A | |
| 2 | g.32089579T>C | CA346603552 | SPAST | c.*220T>C (n.*220T>C) c.560T>C (p.Met187Thr) c.557T>C (p.Met186Thr) c.444T>C c.430T>C c.302T>C (p.Met101Thr) c.145T>C c.436T>C c.516T>C (n.516T>C) c.37-9217T>C c.394T>C n.257T>C c.135T>C | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.32089579T>G | CA346603553 | SPAST | c.*220T>G (n.*220T>G) c.560T>G (p.Met187Arg) c.557T>G (p.Met186Arg) c.444T>G c.430T>G c.302T>G (p.Met101Arg) c.145T>G c.436T>G c.516T>G (n.516T>G) c.37-9217T>G c.394T>G n.257T>G c.135T>G | dbSNP |
| 2 | g.32089579T= | CA1242477067 | SPAST | c.*220T= (n.*220T=) c.560T= (p.Met187=) c.557T= (p.Met186=) c.444T= c.430T= c.302T= (p.Met101=) c.145T= c.436T= c.516T= (n.516T=) c.37-9217T= c.394T= n.257T= c.135T= | |
| 2 | g.32089579_32089580delinsTG | CA1242477068 | SPAST | c.*220_*221delinsTG (n.*220_*221delinsTG) c.560_561delinsTG (p.Met187=) c.557_558delinsTG (p.Met186=) c.444_445delinsTG c.430_431delinsTG c.302_303delinsTG (p.Met101=) c.145_146delinsTG c.436_437delinsTG c.516_517delinsTG (n.516_517delinsTG) c.37-9217_37-9216delinsTG c.394_395delinsTG n.257_258delinsTG c.135_136delinsTG | |
| 2 | g.32089580G>A | CA1600622 | SPAST | c.*221G>A (n.*221G>A) c.561G>A (p.Met187Ile) c.558G>A (p.Met186Ile) c.445G>A c.431G>A c.303G>A (p.Met101Ile) c.146G>A c.437G>A c.517G>A (n.517G>A) c.37-9216G>A c.395G>A n.258G>A c.136G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.32089580G>C | CA346603554 | SPAST | c.*221G>C (n.*221G>C) c.561G>C (p.Met187Ile) c.558G>C (p.Met186Ile) c.445G>C c.431G>C c.303G>C (p.Met101Ile) c.146G>C c.437G>C c.517G>C (n.517G>C) c.37-9216G>C c.395G>C n.258G>C c.136G>C | |
| 2 | g.32089580G= | CA1242477069 | SPAST | c.*221G= (n.*221G=) c.561G= (p.Met187=) c.558G= (p.Met186=) c.445G= c.431G= c.303G= (p.Met101=) c.146G= c.437G= c.517G= (n.517G=) c.37-9216G= c.395G= n.258G= c.136G= | |
| 2 | g.32089580G>T | CA346603555 | SPAST | c.*221G>T (n.*221G>T) c.561G>T (p.Met187Ile) c.558G>T (p.Met186Ile) c.445G>T c.431G>T c.303G>T (p.Met101Ile) c.146G>T c.437G>T c.517G>T (n.517G>T) c.37-9216G>T c.395G>T n.258G>T c.136G>T | |
| 2 | g.32089581del | CA658657016 | SPAST | c.*222del (n.*222del) c.562del (p.Ala188ProfsTer8) c.559del (p.Ala187ProfsTer8) c.446del c.432del c.304del (p.Ala102ProfsTer8) c.147del c.438del c.518del (n.518del) c.37-9215del c.396del n.259del c.137del | ClinVar dbSNP |
| 2 | g.32089581G>A | CA346603556 | SPAST | c.*222G>A (n.*222G>A) c.562G>A (p.Ala188Thr) c.559G>A (p.Ala187Thr) c.446G>A c.432G>A c.304G>A (p.Ala102Thr) c.147G>A c.438G>A c.518G>A (n.518G>A) c.37-9215G>A c.396G>A n.259G>A c.137G>A | gnomAD v4 |
| 2 | g.32089581G>C | CA346603557 | SPAST | c.*222G>C (n.*222G>C) c.562G>C (p.Ala188Pro) c.559G>C (p.Ala187Pro) c.446G>C c.432G>C c.304G>C (p.Ala102Pro) c.147G>C c.438G>C c.518G>C (n.518G>C) c.37-9215G>C c.396G>C n.259G>C c.137G>C | |
| 2 | g.32089581G>T | CA346603558 | SPAST | c.*222G>T (n.*222G>T) c.562G>T (p.Ala188Ser) c.559G>T (p.Ala187Ser) c.446G>T c.432G>T c.304G>T (p.Ala102Ser) c.147G>T c.438G>T c.518G>T (n.518G>T) c.37-9215G>T c.396G>T n.259G>T c.137G>T | |
| 2 | g.32089582C>A | CA346603560 | SPAST | c.*223C>A (n.*223C>A) c.563C>A (p.Ala188Asp) c.560C>A (p.Ala187Asp) c.447C>A c.433C>A c.305C>A (p.Ala102Asp) c.148C>A c.439C>A c.519C>A (n.519C>A) c.37-9214C>A c.397C>A n.260C>A c.138C>A | gnomAD v4 |
| 2 | g.32089582C>G | CA346603561 | SPAST | c.*223C>G (n.*223C>G) c.563C>G (p.Ala188Gly) c.560C>G (p.Ala187Gly) c.447C>G c.433C>G c.305C>G (p.Ala102Gly) c.148C>G c.439C>G c.519C>G (n.519C>G) c.37-9214C>G c.397C>G n.260C>G c.138C>G | |
| 2 | g.32089582C>T | CA346603559 | SPAST | c.*223C>T (n.*223C>T) c.563C>T (p.Ala188Val) c.560C>T (p.Ala187Val) c.447C>T c.433C>T c.305C>T (p.Ala102Val) c.148C>T c.439C>T c.519C>T (n.519C>T) c.37-9214C>T c.397C>T n.260C>T c.138C>T | gnomAD v4 |
| 2 | g.32089583C>A | CA425581438 | SPAST | c.*224C>A (n.*224C>A) c.564C>A (p.Ala188=) c.561C>A (p.Ala187=) c.448C>A c.434C>A c.306C>A (p.Ala102=) c.149C>A c.440C>A c.520C>A (n.520C>A) c.37-9213C>A c.398C>A n.261C>A c.139C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32089583C= | CA1242477070 | SPAST | c.*224C= (n.*224C=) c.564C= (p.Ala188=) c.561C= (p.Ala187=) c.448C= c.434C= c.306C= (p.Ala102=) c.149C= c.440C= c.520C= (n.520C=) c.37-9213C= c.398C= n.261C= c.139C= | |
| 2 | g.32089583C>G | CA425581439 | SPAST | c.*224C>G (n.*224C>G) c.564C>G (p.Ala188=) c.561C>G (p.Ala187=) c.448C>G c.434C>G c.306C>G (p.Ala102=) c.149C>G c.440C>G c.520C>G (n.520C>G) c.37-9213C>G c.398C>G n.261C>G c.139C>G | |
| 2 | g.32089583C>T | CA425581440 | SPAST | c.*224C>T (n.*224C>T) c.564C>T (p.Ala188=) c.561C>T (p.Ala187=) c.448C>T c.434C>T c.306C>T (p.Ala102=) c.149C>T c.440C>T c.520C>T (n.520C>T) c.37-9213C>T c.398C>T n.261C>T c.139C>T | |
| 2 | g.32089584A>C | CA346603562 | SPAST | c.*225A>C (n.*225A>C) c.565A>C (p.Lys189Gln) c.562A>C (p.Lys188Gln) c.449A>C c.435A>C c.307A>C (p.Lys103Gln) c.150A>C c.441A>C c.521A>C (n.521A>C) c.37-9212A>C c.399A>C n.262A>C c.140A>C | gnomAD v4 |
| 2 | g.32089584A>G | CA346603563 | SPAST | c.*225A>G (n.*225A>G) c.565A>G (p.Lys189Glu) c.562A>G (p.Lys188Glu) c.449A>G c.435A>G c.307A>G (p.Lys103Glu) c.150A>G c.441A>G c.521A>G (n.521A>G) c.37-9212A>G c.399A>G n.262A>G c.140A>G | gnomAD v4 |
| 2 | g.32089584A>T | CA346603564 | SPAST | c.*225A>T (n.*225A>T) c.565A>T (p.Lys189Ter) c.562A>T (p.Lys188Ter) c.449A>T c.435A>T c.307A>T (p.Lys103Ter) c.150A>T c.441A>T c.521A>T (n.521A>T) c.37-9212A>T c.399A>T n.262A>T c.140A>T | |
| 2 | g.32089585A>C | CA346603565 | SPAST | c.*226A>C (n.*226A>C) c.566A>C (p.Lys189Thr) c.563A>C (p.Lys188Thr) c.450A>C c.436A>C c.308A>C (p.Lys103Thr) c.151A>C c.442A>C c.522A>C (n.522A>C) c.37-9211A>C c.400A>C n.263A>C c.141A>C | |
| 2 | g.32089585A>G | CA346603566 | SPAST | c.*226A>G (n.*226A>G) c.566A>G (p.Lys189Arg) c.563A>G (p.Lys188Arg) c.450A>G c.436A>G c.308A>G (p.Lys103Arg) c.151A>G c.442A>G c.522A>G (n.522A>G) c.37-9211A>G c.400A>G n.263A>G c.141A>G | gnomAD v4 |
| 2 | g.32089585A>T | CA346603567 | SPAST | c.*226A>T (n.*226A>T) c.566A>T (p.Lys189Met) c.563A>T (p.Lys188Met) c.450A>T c.436A>T c.308A>T (p.Lys103Met) c.151A>T c.442A>T c.522A>T (n.522A>T) c.37-9211A>T c.400A>T n.263A>T c.141A>T | |
| 2 | g.32089586G>A | CA425581441 | SPAST | c.*227G>A (n.*227G>A) c.567G>A (p.Lys189=) c.564G>A (p.Lys188=) c.451G>A c.437G>A c.309G>A (p.Lys103=) c.152G>A c.443G>A c.523G>A (n.523G>A) c.37-9210G>A c.401G>A n.264G>A c.142G>A | gnomAD v4 |
| 2 | g.32089586G>C | CA346603568 | SPAST | c.*227G>C (n.*227G>C) c.567G>C (p.Lys189Asn) c.564G>C (p.Lys188Asn) c.451G>C c.437G>C c.309G>C (p.Lys103Asn) c.152G>C c.443G>C c.523G>C (n.523G>C) c.37-9210G>C c.401G>C n.264G>C c.142G>C | |
| 2 | g.32089586G>T | CA346603569 | SPAST | c.*227G>T (n.*227G>T) c.567G>T (p.Lys189Asn) c.564G>T (p.Lys188Asn) c.451G>T c.437G>T c.309G>T (p.Lys103Asn) c.152G>T c.443G>T c.523G>T (n.523G>T) c.37-9210G>T c.401G>T n.264G>T c.142G>T | gnomAD v4 |
| 2 | g.32089587G>A | CA346603570 | SPAST | c.*228G>A (n.*228G>A) c.568G>A (p.Asp190Asn) c.565G>A (p.Asp189Asn) c.452G>A c.438G>A c.310G>A (p.Asp104Asn) c.153G>A c.444G>A c.524G>A (n.524G>A) c.37-9209G>A c.402G>A n.265G>A c.143G>A | gnomAD v4 |
| 2 | g.32089587G>C | CA1600623 | SPAST | c.*228G>C (n.*228G>C) c.568G>C (p.Asp190His) c.565G>C (p.Asp189His) c.452G>C c.438G>C c.310G>C (p.Asp104His) c.153G>C c.444G>C c.524G>C (n.524G>C) c.37-9209G>C c.402G>C n.265G>C c.143G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.32089587G= | CA1242477071 | SPAST | c.*228G= (n.*228G=) c.568G= (p.Asp190=) c.565G= (p.Asp189=) c.452G= c.438G= c.310G= (p.Asp104=) c.153G= c.444G= c.524G= (n.524G=) c.37-9209G= c.402G= n.265G= c.143G= | |
| 2 | g.32089587G>T | CA346603571 | SPAST | c.*228G>T (n.*228G>T) c.568G>T (p.Asp190Tyr) c.565G>T (p.Asp189Tyr) c.452G>T c.438G>T c.310G>T (p.Asp104Tyr) c.153G>T c.444G>T c.524G>T (n.524G>T) c.37-9209G>T c.402G>T n.265G>T c.143G>T | |
| 2 | g.32089588A= | CA1242477073 | SPAST | c.*229A= (n.*229A=) c.569A= (p.Asp190=) c.566A= (p.Asp189=) c.453A= c.439A= c.311A= (p.Asp104=) c.154A= c.445A= c.525A= (n.525A=) c.37-9208A= c.403A= n.266A= c.144A= | |
| 2 | g.32089588A>C | CA346603572 | SPAST | c.*229A>C (n.*229A>C) c.569A>C (p.Asp190Ala) c.566A>C (p.Asp189Ala) c.453A>C c.439A>C c.311A>C (p.Asp104Ala) c.154A>C c.445A>C c.525A>C (n.525A>C) c.37-9208A>C c.403A>C n.266A>C c.144A>C | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.32089588A>G | CA346603573 | SPAST | c.*229A>G (n.*229A>G) c.569A>G (p.Asp190Gly) c.566A>G (p.Asp189Gly) c.453A>G c.439A>G c.311A>G (p.Asp104Gly) c.154A>G c.445A>G c.525A>G (n.525A>G) c.37-9208A>G c.403A>G n.266A>G c.144A>G | gnomAD v4 |
| 2 | g.32089588A>T | CA346603574 | SPAST | c.*229A>T (n.*229A>T) c.569A>T (p.Asp190Val) c.566A>T (p.Asp189Val) c.453A>T c.439A>T c.311A>T (p.Asp104Val) c.154A>T c.445A>T c.525A>T (n.525A>T) c.37-9208A>T c.403A>T n.266A>T c.144A>T | |
| 2 | g.32089588_32089589delinsAC | CA1242477072 | SPAST | c.*229_*230delinsAC (n.*229_*230delinsAC) c.569_570delinsAC (p.Asp190=) c.566_567delinsAC (p.Asp189=) c.453_454delinsAC c.439_440delinsAC c.311_312delinsAC (p.Asp104=) c.154_155delinsAC c.445_446delinsAC c.525_526delinsAC (n.525_526delinsAC) c.37-9208_37-9207delinsAC c.403_404delinsAC n.266_267delinsAC c.144_145delinsAC | |
| 2 | g.32089589C>A | CA346603576 | SPAST | c.*230C>A (n.*230C>A) c.570C>A (p.Asp190Glu) c.567C>A (p.Asp189Glu) c.454C>A c.440C>A c.312C>A (p.Asp104Glu) c.155C>A c.446C>A c.526C>A (n.526C>A) c.37-9207C>A c.404C>A n.267C>A c.145C>A | gnomAD v4 |
| 2 | g.32089589C= | CA1242477074 | SPAST | c.*230C= (n.*230C=) c.570C= (p.Asp190=) c.567C= (p.Asp189=) c.454C= c.440C= c.312C= (p.Asp104=) c.155C= c.446C= c.526C= (n.526C=) c.37-9207C= c.404C= n.267C= c.145C= | |
| 2 | g.32089589C>G | CA346603575 | SPAST | c.*230C>G (n.*230C>G) c.570C>G (p.Asp190Glu) c.567C>G (p.Asp189Glu) c.454C>G c.440C>G c.312C>G (p.Asp104Glu) c.155C>G c.446C>G c.526C>G (n.526C>G) c.37-9207C>G c.404C>G n.267C>G c.145C>G | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.32089589C>T | CA425581442 | SPAST | c.*230C>T (n.*230C>T) c.570C>T (p.Asp190=) c.567C>T (p.Asp189=) c.454C>T c.440C>T c.312C>T (p.Asp104=) c.155C>T c.446C>T c.526C>T (n.526C>T) c.37-9207C>T c.404C>T n.267C>T c.145C>T | |
| 2 | g.32089590del | CA16042409 | SPAST | c.*231del (n.*231del) c.571del (p.Arg191AlafsTer5) c.568del (p.Arg190AlafsTer5) c.455del c.441del c.313del (p.Arg105AlafsTer5) c.156del c.447del c.527del (n.527del) c.37-9206del c.405del n.268del c.146del | ClinVar dbSNP |
| 2 | g.32089590C>A | CA346603577 | SPAST | c.*231C>A (n.*231C>A) c.571C>A (p.Arg191Ser) c.568C>A (p.Arg190Ser) c.455C>A c.441C>A c.313C>A (p.Arg105Ser) c.156C>A c.447C>A c.527C>A (n.527C>A) c.37-9206C>A c.405C>A n.268C>A c.146C>A | gnomAD v4 |
| 2 | g.32089590C>G | CA346603578 | SPAST | c.*231C>G (n.*231C>G) c.571C>G (p.Arg191Gly) c.568C>G (p.Arg190Gly) c.455C>G c.441C>G c.313C>G (p.Arg105Gly) c.156C>G c.447C>G c.527C>G (n.527C>G) c.37-9206C>G c.405C>G n.268C>G c.146C>G | |
| 2 | g.32089590C>T | CA346603579 | SPAST | c.*231C>T (n.*231C>T) c.571C>T (p.Arg191Cys) c.568C>T (p.Arg190Cys) c.455C>T c.441C>T c.313C>T (p.Arg105Cys) c.156C>T c.447C>T c.527C>T (n.527C>T) c.37-9206C>T c.405C>T n.268C>T c.146C>T | gnomAD v4 COSMIC |
| 2 | g.32089591G>A | CA346603581 | SPAST | c.*232G>A (n.*232G>A) c.572G>A (p.Arg191His) c.569G>A (p.Arg190His) c.456G>A c.442G>A c.314G>A (p.Arg105His) c.157G>A c.448G>A c.528G>A (n.528G>A) c.37-9205G>A c.406G>A n.269G>A c.147G>A | gnomAD v4 |
| 2 | g.32089591G>C | CA346603580 | SPAST | c.*232G>C (n.*232G>C) c.572G>C (p.Arg191Pro) c.569G>C (p.Arg190Pro) c.456G>C c.442G>C c.314G>C (p.Arg105Pro) c.157G>C c.448G>C c.528G>C (n.528G>C) c.37-9205G>C c.406G>C n.269G>C c.147G>C | |
| 2 | g.32089591G>T | CA346603582 | SPAST | c.*232G>T (n.*232G>T) c.572G>T (p.Arg191Leu) c.569G>T (p.Arg190Leu) c.456G>T c.442G>T c.314G>T (p.Arg105Leu) c.157G>T c.448G>T c.528G>T (n.528G>T) c.37-9205G>T c.406G>T n.269G>T c.147G>T | |
| 2 | g.32089592C>A | CA425581444 | SPAST | c.*233C>A (n.*233C>A) c.573C>A (p.Arg191=) c.570C>A (p.Arg190=) c.457C>A c.443C>A c.315C>A (p.Arg105=) c.158C>A c.449C>A c.529C>A (n.529C>A) c.37-9204C>A c.407C>A n.270C>A c.148C>A | gnomAD v4 |
| 2 | g.32089592C>G | CA425581443 | SPAST | c.*233C>G (n.*233C>G) c.573C>G (p.Arg191=) c.570C>G (p.Arg190=) c.457C>G c.443C>G c.315C>G (p.Arg105=) c.158C>G c.449C>G c.529C>G (n.529C>G) c.37-9204C>G c.407C>G n.270C>G c.148C>G | |
| 2 | g.32089592C>T | CA425581445 | SPAST | c.*233C>T (n.*233C>T) c.573C>T (p.Arg191=) c.570C>T (p.Arg190=) c.457C>T c.443C>T c.315C>T (p.Arg105=) c.158C>T c.449C>T c.529C>T (n.529C>T) c.37-9204C>T c.407C>T n.270C>T c.148C>T | |
| 2 | g.32089593T>A | CA346603583 | SPAST | c.*234T>A (n.*234T>A) c.574T>A (p.Leu192Ile) c.571T>A (p.Leu191Ile) c.458T>A c.444T>A c.316T>A (p.Leu106Ile) c.159T>A c.450T>A c.530T>A (n.530T>A) c.37-9203T>A c.408T>A n.271T>A c.149T>A | |
| 2 | g.32089593T>C | CA425581446 | SPAST | c.*234T>C (n.*234T>C) c.574T>C (p.Leu192=) c.571T>C (p.Leu191=) c.458T>C c.444T>C c.316T>C (p.Leu106=) c.159T>C c.450T>C c.530T>C (n.530T>C) c.37-9203T>C c.408T>C n.271T>C c.149T>C | gnomAD v4 |
| 2 | g.32089593T>G | CA346603584 | SPAST | c.*234T>G (n.*234T>G) c.574T>G (p.Leu192Val) c.571T>G (p.Leu191Val) c.458T>G c.444T>G c.316T>G (p.Leu106Val) c.159T>G c.450T>G c.530T>G (n.530T>G) c.37-9203T>G c.408T>G n.271T>G c.149T>G | |
| 2 | g.32089594del | CA2576930028 | SPAST | c.*235del (n.*235del) c.575del (p.Leu192TyrfsTer4) c.572del (p.Leu191TyrfsTer4) c.459del c.445del c.317del (p.Leu106TyrfsTer4) c.160del c.451del c.531del (n.531del) c.37-9202del c.409del n.272del c.150del | gnomAD v4 |
| 2 | g.32089594T>A | CA346603585 | SPAST | c.*235T>A (n.*235T>A) c.575T>A (p.Leu192Ter) c.572T>A (p.Leu191Ter) c.459T>A c.445T>A c.317T>A (p.Leu106Ter) c.160T>A c.451T>A c.531T>A (n.531T>A) c.37-9202T>A c.409T>A n.272T>A c.150T>A | |
| 2 | g.32089594T>C | CA45205057 | SPAST | c.*235T>C (n.*235T>C) c.575T>C (p.Leu192Ser) c.572T>C (p.Leu191Ser) c.459T>C c.445T>C c.317T>C (p.Leu106Ser) c.160T>C c.451T>C c.531T>C (n.531T>C) c.37-9202T>C c.409T>C n.272T>C c.150T>C | dbSNP gnomAD v4 |
| 2 | g.32089594T>G | CA346603586 | SPAST | c.*235T>G (n.*235T>G) c.575T>G (p.Leu192Ter) c.572T>G (p.Leu191Ter) c.459T>G c.445T>G c.317T>G (p.Leu106Ter) c.160T>G c.451T>G c.531T>G (n.531T>G) c.37-9202T>G c.409T>G n.272T>G c.150T>G | |
| 2 | g.32089594T= | CA1242477075 | SPAST | c.*235T= (n.*235T=) c.575T= (p.Leu192=) c.572T= (p.Leu191=) c.459T= c.445T= c.317T= (p.Leu106=) c.160T= c.451T= c.531T= (n.531T=) c.37-9202T= c.409T= n.272T= c.150T= | |
| 2 | g.32089595del | CA2576930029 | SPAST | c.*236del (n.*236del) c.576del (p.Leu192PhefsTer4) c.573del (p.Leu191PhefsTer4) c.460del c.446del c.318del (p.Leu106PhefsTer4) c.161del c.452del c.532del (n.532del) c.37-9201del c.410del n.273del c.151del | |
| 2 | g.32089595A>C | CA346603587 | SPAST | c.*236A>C (n.*236A>C) c.576A>C (p.Leu192Phe) c.573A>C (p.Leu191Phe) c.460A>C c.446A>C c.318A>C (p.Leu106Phe) c.161A>C c.452A>C c.532A>C (n.532A>C) c.37-9201A>C c.410A>C n.273A>C c.151A>C | |
| 2 | g.32089595A>G | CA425581447 | SPAST | c.*236A>G (n.*236A>G) c.576A>G (p.Leu192=) c.573A>G (p.Leu191=) c.460A>G c.446A>G c.318A>G (p.Leu106=) c.161A>G c.452A>G c.532A>G (n.532A>G) c.37-9201A>G c.410A>G n.273A>G c.151A>G | gnomAD v4 |
| 2 | g.32089595A>T | CA346603588 | SPAST | c.*236A>T (n.*236A>T) c.576A>T (p.Leu192Phe) c.573A>T (p.Leu191Phe) c.460A>T c.446A>T c.318A>T (p.Leu106Phe) c.161A>T c.452A>T c.532A>T (n.532A>T) c.37-9201A>T c.410A>T n.273A>T c.151A>T | gnomAD v4 |
| 2 | g.32089596C>A | CA346603589 | SPAST | c.*237C>A (n.*237C>A) c.577C>A (p.Gln193Lys) c.574C>A (p.Gln192Lys) c.461C>A c.447C>A c.319C>A (p.Gln107Lys) c.162C>A c.453C>A c.533C>A (n.533C>A) c.37-9200C>A c.411C>A n.274C>A c.152C>A | gnomAD v4 |
| 2 | g.32089596C= | CA1242477076 | SPAST | c.*237C= (n.*237C=) c.577C= (p.Gln193=) c.574C= (p.Gln192=) c.461C= c.447C= c.319C= (p.Gln107=) c.162C= c.453C= c.533C= (n.533C=) c.37-9200C= c.411C= n.274C= c.152C= | |
| 2 | g.32089596C>G | CA346603590 | SPAST | c.*237C>G (n.*237C>G) c.577C>G (p.Gln193Glu) c.574C>G (p.Gln192Glu) c.461C>G c.447C>G c.319C>G (p.Gln107Glu) c.162C>G c.453C>G c.533C>G (n.533C>G) c.37-9200C>G c.411C>G n.274C>G c.152C>G | |
| 2 | g.32089596C>T | CA346603591 | SPAST | c.*237C>T (n.*237C>T) c.577C>T (p.Gln193Ter) c.574C>T (p.Gln192Ter) c.461C>T c.447C>T c.319C>T (p.Gln107Ter) c.162C>T c.453C>T c.533C>T (n.533C>T) c.37-9200C>T c.411C>T n.274C>T c.152C>T | ClinVar dbSNP gnomAD v4 |
| 2 | g.32089597A>C | CA346603592 | SPAST | c.*238A>C (n.*238A>C) c.578A>C (p.Gln193Pro) c.575A>C (p.Gln192Pro) c.462A>C c.448A>C c.320A>C (p.Gln107Pro) c.163A>C c.454A>C c.534A>C (n.534A>C) c.37-9199A>C c.412A>C n.275A>C c.153A>C | |
| 2 | g.32089597A>G | CA346603593 | SPAST | c.*238A>G (n.*238A>G) c.578A>G (p.Gln193Arg) c.575A>G (p.Gln192Arg) c.462A>G c.448A>G c.320A>G (p.Gln107Arg) c.163A>G c.454A>G c.534A>G (n.534A>G) c.37-9199A>G c.412A>G n.275A>G c.153A>G | gnomAD v4 |
| 2 | g.32089597A>T | CA346603594 | SPAST | c.*238A>T (n.*238A>T) c.578A>T (p.Gln193Leu) c.575A>T (p.Gln192Leu) c.462A>T c.448A>T c.320A>T (p.Gln107Leu) c.163A>T c.454A>T c.534A>T (n.534A>T) c.37-9199A>T c.412A>T n.275A>T c.153A>T | |
| 2 | g.32089598A>C | CA346603595 | SPAST | c.*239A>C (n.*239A>C) c.579A>C (p.Gln193His) c.576A>C (p.Gln192His) c.463A>C c.449A>C c.321A>C (p.Gln107His) c.164A>C c.455A>C c.535A>C (n.535A>C) c.37-9198A>C c.413A>C n.276A>C c.154A>C | |
| 2 | g.32089598A>G | CA425581448 | SPAST | c.*239A>G (n.*239A>G) c.579A>G (p.Gln193=) c.576A>G (p.Gln192=) c.463A>G c.449A>G c.321A>G (p.Gln107=) c.164A>G c.455A>G c.535A>G (n.535A>G) c.37-9198A>G c.413A>G n.276A>G c.154A>G | gnomAD v4 |
| 2 | g.32089598A>T | CA346603596 | SPAST | c.*239A>T (n.*239A>T) c.579A>T (p.Gln193His) c.576A>T (p.Gln192His) c.463A>T c.449A>T c.321A>T (p.Gln107His) c.164A>T c.455A>T c.535A>T (n.535A>T) c.37-9198A>T c.413A>T n.276A>T c.154A>T | |
| 2 | g.32089599del | CA2573134496 | SPAST | c.*240del (n.*240del) c.580del (p.Leu194PhefsTer2) c.577del (p.Leu193PhefsTer2) c.464del c.450del c.322del (p.Leu108PhefsTer2) c.165del c.456del c.536del (n.536del) c.37-9197del c.414del n.277del c.155del | ClinVar dbSNP |
| 2 | g.32089599C>A | CA346603597 | SPAST | c.*240C>A (n.*240C>A) c.580C>A (p.Leu194Ile) c.577C>A (p.Leu193Ile) c.464C>A c.450C>A c.322C>A (p.Leu108Ile) c.165C>A c.456C>A c.536C>A (n.536C>A) c.37-9197C>A c.414C>A n.277C>A c.155C>A | gnomAD v4 |
| 2 | g.32089599C>G | CA346603598 | SPAST | c.*240C>G (n.*240C>G) c.580C>G (p.Leu194Val) c.577C>G (p.Leu193Val) c.464C>G c.450C>G c.322C>G (p.Leu108Val) c.165C>G c.456C>G c.536C>G (n.536C>G) c.37-9197C>G c.414C>G n.277C>G c.155C>G | |
| 2 | g.32089599C>T | CA346603599 | SPAST | c.*240C>T (n.*240C>T) c.580C>T (p.Leu194Phe) c.577C>T (p.Leu193Phe) c.464C>T c.450C>T c.322C>T (p.Leu108Phe) c.165C>T c.456C>T c.536C>T (n.536C>T) c.37-9197C>T c.414C>T n.277C>T c.155C>T | |
| 2 | g.32089600T>A | CA346603602 | SPAST | c.*241T>A (n.*241T>A) c.581T>A (p.Leu194His) c.578T>A (p.Leu193His) c.465T>A c.451T>A c.323T>A (p.Leu108His) c.166T>A c.457T>A c.537T>A (n.537T>A) c.37-9196T>A c.415T>A n.278T>A c.156T>A | |
| 2 | g.32089600T>C | CA346603600 | SPAST | c.*241T>C (n.*241T>C) c.581T>C (p.Leu194Pro) c.578T>C (p.Leu193Pro) c.465T>C c.451T>C c.323T>C (p.Leu108Pro) c.166T>C c.457T>C c.537T>C (n.537T>C) c.37-9196T>C c.415T>C n.278T>C c.156T>C | gnomAD v4 |
| 2 | g.32089600T>G | CA346603601 | SPAST | c.*241T>G (n.*241T>G) c.581T>G (p.Leu194Arg) c.578T>G (p.Leu193Arg) c.465T>G c.451T>G c.323T>G (p.Leu108Arg) c.166T>G c.457T>G c.537T>G (n.537T>G) c.37-9196T>G c.415T>G n.278T>G c.156T>G |