| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 2 | g.32089601T>A | CA425581449 | SPAST | c.*242T>A (n.*242T>A) c.582T>A (p.Leu194=) c.579T>A (p.Leu193=) c.466T>A c.452T>A c.324T>A (p.Leu108=) c.167T>A c.458T>A c.538T>A (n.538T>A) c.37-9195T>A c.416T>A n.279T>A c.157T>A | |
| 2 | g.32089601T>C | CA425581450 | SPAST | c.*242T>C (n.*242T>C) c.582T>C (p.Leu194=) c.579T>C (p.Leu193=) c.466T>C c.452T>C c.324T>C (p.Leu108=) c.167T>C c.458T>C c.538T>C (n.538T>C) c.37-9195T>C c.416T>C n.279T>C c.157T>C | gnomAD v4 |
| 2 | g.32089601T>G | CA425581451 | SPAST | c.*242T>G (n.*242T>G) c.582T>G (p.Leu194=) c.579T>G (p.Leu193=) c.466T>G c.452T>G c.324T>G (p.Leu108=) c.167T>G c.458T>G c.538T>G (n.538T>G) c.37-9195T>G c.416T>G n.279T>G c.157T>G | |
| 2 | g.32089602C>A | CA346603603 | SPAST | c.*243C>A (n.*243C>A) c.583C>A (p.Leu195Ile) c.580C>A (p.Leu194Ile) c.467C>A c.453C>A c.325C>A (p.Leu109Ile) c.168C>A c.459C>A c.539C>A (n.539C>A) c.37-9194C>A c.417C>A n.280C>A c.158C>A | gnomAD v4 |
| 2 | g.32089602C= | CA1242477077 | SPAST | c.*243C= (n.*243C=) c.583C= (p.Leu195=) c.580C= (p.Leu194=) c.467C= c.453C= c.325C= (p.Leu109=) c.168C= c.459C= c.539C= (n.539C=) c.37-9194C= c.417C= n.280C= c.158C= | |
| 2 | g.32089602C>G | CA346603604 | SPAST | c.*243C>G (n.*243C>G) c.583C>G (p.Leu195Val) c.580C>G (p.Leu194Val) c.467C>G c.453C>G c.325C>G (p.Leu109Val) c.168C>G c.459C>G c.539C>G (n.539C>G) c.37-9194C>G c.417C>G n.280C>G c.158C>G | dbSNP |
| 2 | g.32089602C>T | CA425581452 | SPAST | c.*243C>T (n.*243C>T) c.583C>T (p.Leu195=) c.580C>T (p.Leu194=) c.467C>T c.453C>T c.325C>T (p.Leu109=) c.168C>T c.459C>T c.539C>T (n.539C>T) c.37-9194C>T c.417C>T n.280C>T c.158C>T | |
| 2 | g.32089603T>A | CA346603605 | SPAST | c.*244T>A (n.*244T>A) c.584T>A (p.Leu195Gln) c.581T>A (p.Leu194Gln) c.468T>A c.454T>A c.326T>A (p.Leu109Gln) c.169T>A c.460T>A c.540T>A (n.540T>A) c.37-9193T>A c.418T>A n.281T>A c.159T>A | gnomAD v4 |
| 2 | g.32089603T>C | CA346603606 | SPAST | c.*244T>C (n.*244T>C) c.584T>C (p.Leu195Pro) c.581T>C (p.Leu194Pro) c.468T>C c.454T>C c.326T>C (p.Leu109Pro) c.169T>C c.460T>C c.540T>C (n.540T>C) c.37-9193T>C c.418T>C n.281T>C c.159T>C | gnomAD v4 |
| 2 | g.32089603T>G | CA346603607 | SPAST | c.*244T>G (n.*244T>G) c.584T>G (p.Leu195Arg) c.581T>G (p.Leu194Arg) c.468T>G c.454T>G c.326T>G (p.Leu109Arg) c.169T>G c.460T>G c.540T>G (n.540T>G) c.37-9193T>G c.418T>G n.281T>G c.159T>G | |
| 2 | g.32089603_32089604del | CA2586968976 | SPAST | c.*244_*245del (n.*244_*245del) c.584_585del (p.Leu195ArgfsTer18) c.581_582del (p.Leu194ArgfsTer18) c.468_469del c.581_582del (p.Leu194ArgfsTer16) c.454_455del c.326_327del (p.Leu109ArgfsTer18) c.169_170del c.460_461del c.326_327del (p.Leu109ArgfsTer16) c.540_541del (n.540_541del) c.37-9193_37-9192del c.418_419del c.584_585del (p.Leu195ArgfsTer16) n.281_282del c.159_160del |