Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.32063148_32067182del | CA339677 | ClinVar | ||
2 | g.32063720_32066025del | CA325517 | SPAST | c.-112_446del c.-112_415+1779del | ClinVar |
2 | g.32064113_32064153del | CA2586968939 | SPAST | c.282_322del (p.Ala96GlyfsTer26) c.166_206del c.152_192del c.24_64del (p.Ala10GlyfsTer26) c.158_198del c.123_163del (p.Ala43GlyfsTer26) c.116_156del | |
2 | g.32064118_32064158del | CA2586968942 | SPAST | c.287_327del (p.Ala96GlyfsTer26) c.171_211del c.157_197del c.29_69del (p.Ala10GlyfsTer26) c.163_203del c.128_168del (p.Ala43GlyfsTer26) c.121_161del | |
2 | g.32064127_32064444del | CA2573134600 | SPAST | c.296_415+198del c.180_299+198del c.166_285+198del c.38_157+198del c.172_291+198del c.137_256+198del c.130_249+198del | ClinVar dbSNP |
2 | g.32064148_32064153dup | CA531769478 | SPAST | c.317_322dup (p.Pro107_Val108insAlaPro) c.201_206dup c.187_192dup c.59_64dup (p.Pro21_Val22insAlaPro) c.193_198dup c.158_163dup (p.Pro54_Val55insAlaPro) c.151_156dup | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064148_32064153del | CA2658519901 | SPAST | c.317_322del (p.Ala106_Pro107del) c.201_206del c.187_192del c.59_64del (p.Ala20_Pro21del) c.193_198del c.158_163del (p.Ala53_Pro54del) c.151_156del | gnomAD v4 |
2 | g.32064148_32064154delinsCGCCGGT | CA1242461777 | SPAST | c.317_323delinsCGCCGGT (p.Ala106=) c.201_207delinsCGCCGGT c.187_193delinsCGCCGGT c.59_65delinsCGCCGGT (p.Ala20=) c.193_199delinsCGCCGGT c.158_164delinsCGCCGGT (p.Ala53=) c.151_157delinsCGCCGGT | |
2 | g.32064154_32064159dup | CA531769479 | SPAST | c.323_328dup (p.Pro109_Gly110insValPro) c.207_212dup c.193_198dup c.65_70dup (p.Pro23_Gly24insValPro) c.199_204dup c.164_169dup (p.Pro56_Gly57insValPro) c.157_162dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064154_32064159del | CA1600553 | SPAST | c.323_328del (p.Val108_Pro109del) c.207_212del c.193_198del c.65_70del (p.Val22_Pro23del) c.199_204del c.164_169del (p.Val55_Pro56del) c.157_162del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064153_32064181del | CA2586968946 | SPAST | c.322_350del (p.Val108SerfsTer18) c.206_234del c.192_220del c.64_92del (p.Val22SerfsTer18) c.198_226del c.163_191del (p.Val55SerfsTer18) c.156_184del | |
2 | g.32064152G>A | CA45201406 | SPAST | c.321G>A (p.Pro107=) c.205G>A c.191G>A c.63G>A (p.Pro21=) c.197G>A c.162G>A (p.Pro54=) c.155G>A | dbSNP gnomAD v4 |
2 | g.32064152G>C | CA1600556 | SPAST | c.321G>C (p.Pro107=) c.205G>C c.191G>C c.63G>C (p.Pro21=) c.197G>C c.162G>C (p.Pro54=) c.155G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32064152G= | CA1242461782 | SPAST | c.321G= (p.Pro107=) c.205G= c.191G= c.63G= (p.Pro21=) c.197G= c.162G= (p.Pro54=) c.155G= | |
2 | g.32064152G>T | CA425626964 | SPAST | c.321G>T (p.Pro107=) c.205G>T c.191G>T c.63G>T (p.Pro21=) c.197G>T c.162G>T (p.Pro54=) c.155G>T | |
2 | g.32064153G>A | CA346602276 | SPAST | c.322G>A (p.Val108Met) c.206G>A c.192G>A c.64G>A (p.Val22Met) c.198G>A c.163G>A (p.Val55Met) c.156G>A | |
2 | g.32064153G>C | CA346602277 | SPAST | c.322G>C (p.Val108Leu) c.206G>C c.192G>C c.64G>C (p.Val22Leu) c.198G>C c.163G>C (p.Val55Leu) c.156G>C | |
2 | g.32064153G>T | CA346602279 | SPAST | c.322G>T (p.Val108Leu) c.206G>T c.192G>T c.64G>T (p.Val22Leu) c.198G>T c.163G>T (p.Val55Leu) c.156G>T | |
2 | g.32064154T>A | CA346602280 | SPAST | c.323T>A (p.Val108Glu) c.207T>A c.193T>A c.65T>A (p.Val22Glu) c.199T>A c.164T>A (p.Val55Glu) c.157T>A | |
2 | g.32064154T>C | CA346602281 | SPAST | c.323T>C (p.Val108Ala) c.207T>C c.193T>C c.65T>C (p.Val22Ala) c.199T>C c.164T>C (p.Val55Ala) c.157T>C | ClinVar dbSNP gnomAD v4 |
2 | g.32064154T>G | CA346602283 | SPAST | c.323T>G (p.Val108Gly) c.207T>G c.193T>G c.65T>G (p.Val22Gly) c.199T>G c.164T>G (p.Val55Gly) c.157T>G | ClinVar |
2 | g.32064154T= | CA1242461784 | SPAST | c.323T= (p.Val108=) c.207T= c.193T= c.65T= (p.Val22=) c.199T= c.164T= (p.Val55=) c.157T= | |
2 | g.32064154_32064167delinsTGCCGGGCGGCGAG | CA1242461783 | SPAST | c.323_336delinsTGCCGGGCGGCGAG (p.Val108=) c.207_220delinsTGCCGGGCGGCGAG c.193_206delinsTGCCGGGCGGCGAG c.65_78delinsTGCCGGGCGGCGAG (p.Val22=) c.199_212delinsTGCCGGGCGGCGAG c.164_177delinsTGCCGGGCGGCGAG (p.Val55=) c.157_170delinsTGCCGGGCGGCGAG | |
2 | g.32064155G>A | CA425626978 | SPAST | c.324G>A (p.Val108=) c.208G>A c.194G>A c.66G>A (p.Val22=) c.200G>A c.165G>A (p.Val55=) c.158G>A | |
2 | g.32064155G>C | CA1600557 | SPAST | c.324G>C (p.Val108=) c.208G>C c.194G>C c.66G>C (p.Val22=) c.200G>C c.165G>C (p.Val55=) c.158G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064155G= | CA1242461785 | SPAST | c.324G= (p.Val108=) c.208G= c.194G= c.66G= (p.Val22=) c.200G= c.165G= (p.Val55=) c.158G= | |
2 | g.32064155G>T | CA425626980 | SPAST | c.324G>T (p.Val108=) c.208G>T c.194G>T c.66G>T (p.Val22=) c.200G>T c.165G>T (p.Val55=) c.158G>T | gnomAD v4 |
2 | g.32064159_32064171del | CA658795702 | SPAST | c.328_340del (p.Gly110SerfsTer?) c.212_224del c.198_210del c.70_82del (p.Gly24SerfsTer?) c.204_216del c.169_181del (p.Gly57SerfsTer26) c.162_174del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064156C>A | CA45201407 | SPAST | c.325C>A (p.Pro109Thr) c.209C>A c.195C>A c.67C>A (p.Pro23Thr) c.201C>A c.166C>A (p.Pro56Thr) c.159C>A | dbSNP |
2 | g.32064156C= | CA1242461786 | SPAST | c.325C= (p.Pro109=) c.209C= c.195C= c.67C= (p.Pro23=) c.201C= c.166C= (p.Pro56=) c.159C= | |
2 | g.32064156C>G | CA346602287 | SPAST | c.325C>G (p.Pro109Ala) c.209C>G c.195C>G c.67C>G (p.Pro23Ala) c.201C>G c.166C>G (p.Pro56Ala) c.159C>G | |
2 | g.32064156C>T | CA346602289 | SPAST | c.325C>T (p.Pro109Ser) c.209C>T c.195C>T c.67C>T (p.Pro23Ser) c.201C>T c.166C>T (p.Pro56Ser) c.159C>T | gnomAD v4 |
2 | g.32064157C>A | CA346602291 | SPAST | c.326C>A (p.Pro109Gln) c.210C>A c.196C>A c.68C>A (p.Pro23Gln) c.202C>A c.167C>A (p.Pro56Gln) c.160C>A | |
2 | g.32064157C= | CA1242461787 | SPAST | c.326C= (p.Pro109=) c.210C= c.196C= c.68C= (p.Pro23=) c.202C= c.167C= (p.Pro56=) c.160C= | |
2 | g.32064157C>G | CA1600558 | SPAST | c.326C>G (p.Pro109Arg) c.210C>G c.196C>G c.68C>G (p.Pro23Arg) c.202C>G c.167C>G (p.Pro56Arg) c.160C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064157C>T | CA1600559 | SPAST | c.326C>T (p.Pro109Leu) c.210C>T c.196C>T c.68C>T (p.Pro23Leu) c.202C>T c.167C>T (p.Pro56Leu) c.160C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064158G>A | CA45201408 | SPAST | c.327G>A (p.Pro109=) c.211G>A c.197G>A c.69G>A (p.Pro23=) c.203G>A c.168G>A (p.Pro56=) c.161G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064158G>C | CA16604219 | SPAST | c.327G>C (p.Pro109=) c.211G>C c.197G>C c.69G>C (p.Pro23=) c.203G>C c.168G>C (p.Pro56=) c.161G>C | ClinVar dbSNP gnomAD v4 |
2 | g.32064158G= | CA1242461788 | SPAST | c.327G= (p.Pro109=) c.211G= c.197G= c.69G= (p.Pro23=) c.203G= c.168G= (p.Pro56=) c.161G= | |
2 | g.32064158G>T | CA425626992 | SPAST | c.327G>T (p.Pro109=) c.211G>T c.197G>T c.69G>T (p.Pro23=) c.203G>T c.168G>T (p.Pro56=) c.161G>T | gnomAD v4 |
2 | g.32064158_32064159insA | CA2576929938 | SPAST | c.327_328insA (p.Gly110ArgfsTer26) c.211_212insA c.197_198insA c.69_70insA (p.Gly24ArgfsTer26) c.203_204insA c.168_169insA (p.Gly57ArgfsTer26) c.161_162insA | |
2 | g.32064159G>A | CA346602296 | SPAST | c.328G>A (p.Gly110Ser) c.212G>A c.198G>A c.70G>A (p.Gly24Ser) c.204G>A c.169G>A (p.Gly57Ser) c.162G>A | gnomAD v4 COSMIC |
2 | g.32064159G>C | CA346602298 | SPAST | c.328G>C (p.Gly110Arg) c.212G>C c.198G>C c.70G>C (p.Gly24Arg) c.204G>C c.169G>C (p.Gly57Arg) c.162G>C | |
2 | g.32064159G>T | CA346602297 | SPAST | c.328G>T (p.Gly110Cys) c.212G>T c.198G>T c.70G>T (p.Gly24Cys) c.204G>T c.169G>T (p.Gly57Cys) c.162G>T | |
2 | g.32064160G>A | CA346602300 | SPAST | c.329G>A (p.Gly110Asp) c.213G>A c.199G>A c.71G>A (p.Gly24Asp) c.205G>A c.170G>A (p.Gly57Asp) c.163G>A | |
2 | g.32064160G>C | CA346602302 | SPAST | c.329G>C (p.Gly110Ala) c.213G>C c.199G>C c.71G>C (p.Gly24Ala) c.205G>C c.170G>C (p.Gly57Ala) c.163G>C | |
2 | g.32064160G>T | CA346602303 | SPAST | c.329G>T (p.Gly110Val) c.213G>T c.199G>T c.71G>T (p.Gly24Val) c.205G>T c.170G>T (p.Gly57Val) c.163G>T | gnomAD v4 |
2 | g.32064161_32064162del | CA2586968947 | SPAST | c.330_331del (p.Gly111ArgfsTer24) c.214_215del c.200_201del c.72_73del (p.Gly25ArgfsTer24) c.206_207del c.171_172del (p.Gly58ArgfsTer24) c.164_165del | |
2 | g.32064161_32064167del | CA2840092942 | SPAST | c.330_336del (p.Gly111ProfsTer?) c.214_220del c.200_206del c.72_78del (p.Gly25ProfsTer?) c.206_212del c.171_177del (p.Gly58ProfsTer27) c.164_170del | |
2 | g.32064161del | CA2576929939 | SPAST | c.330del (p.Gly111AlafsTer?) c.214del c.200del c.72del (p.Gly25AlafsTer?) c.206del c.171del (p.Gly58AlafsTer29) c.164del | ClinVar |
2 | g.32064161C>A | CA45201411 | SPAST | c.330C>A (p.Gly110=) c.214C>A c.200C>A c.72C>A (p.Gly24=) c.206C>A c.171C>A (p.Gly57=) c.164C>A | dbSNP |
2 | g.32064161C= | CA1242461789 | SPAST | c.330C= (p.Gly110=) c.214C= c.200C= c.72C= (p.Gly24=) c.206C= c.171C= (p.Gly57=) c.164C= | |
2 | g.32064161C>G | CA45201410 | SPAST | c.330C>G (p.Gly110=) c.214C>G c.200C>G c.72C>G (p.Gly24=) c.206C>G c.171C>G (p.Gly57=) c.164C>G | dbSNP gnomAD v4 |
2 | g.32064161C>T | CA45201409 | SPAST | c.330C>T (p.Gly110=) c.214C>T c.200C>T c.72C>T (p.Gly24=) c.206C>T c.171C>T (p.Gly57=) c.164C>T | dbSNP gnomAD v4 |
2 | g.32064162G>A | CA1600560 | SPAST | c.331G>A (p.Gly111Ser) c.215G>A c.201G>A c.73G>A (p.Gly25Ser) c.207G>A c.172G>A (p.Gly58Ser) c.165G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32064162G>C | CA346602308 | SPAST | c.331G>C (p.Gly111Arg) c.215G>C c.201G>C c.73G>C (p.Gly25Arg) c.207G>C c.172G>C (p.Gly58Arg) c.165G>C | |
2 | g.32064162G= | CA1242461790 | SPAST | c.331G= (p.Gly111=) c.215G= c.201G= c.73G= (p.Gly25=) c.207G= c.172G= (p.Gly58=) c.165G= | |
2 | g.32064162G>T | CA346602312 | SPAST | c.331G>T (p.Gly111Cys) c.215G>T c.201G>T c.73G>T (p.Gly25Cys) c.207G>T c.172G>T (p.Gly58Cys) c.165G>T | dbSNP gnomAD v2 |
2 | g.32064163_32064168del | CA2658519902 | SPAST | c.332_337del (p.Gly111_Glu112del) c.216_221del c.202_207del c.74_79del (p.Gly25_Glu26del) c.208_213del c.173_178del (p.Gly58_Glu59del) c.166_171del | gnomAD v4 |
2 | g.32064163G>A | CA346602313 | SPAST | c.332G>A (p.Gly111Asp) c.216G>A c.202G>A c.74G>A (p.Gly25Asp) c.208G>A c.173G>A (p.Gly58Asp) c.166G>A | gnomAD v4 |
2 | g.32064163G>C | CA346602314 | SPAST | c.332G>C (p.Gly111Ala) c.216G>C c.202G>C c.74G>C (p.Gly25Ala) c.208G>C c.173G>C (p.Gly58Ala) c.166G>C | ClinVar |
2 | g.32064163G>T | CA346602315 | SPAST | c.332G>T (p.Gly111Val) c.216G>T c.202G>T c.74G>T (p.Gly25Val) c.208G>T c.173G>T (p.Gly58Val) c.166G>T | |
2 | g.32064164C>A | CA425627018 | SPAST | c.333C>A (p.Gly111=) c.217C>A c.203C>A c.75C>A (p.Gly25=) c.209C>A c.174C>A (p.Gly58=) c.167C>A | gnomAD v4 |
2 | g.32064164C= | CA1242461791 | SPAST | c.333C= (p.Gly111=) c.217C= c.203C= c.75C= (p.Gly25=) c.209C= c.174C= (p.Gly58=) c.167C= | |
2 | g.32064164C>G | CA425627019 | SPAST | c.333C>G (p.Gly111=) c.217C>G c.203C>G c.75C>G (p.Gly25=) c.209C>G c.174C>G (p.Gly58=) c.167C>G | dbSNP gnomAD v4 |
2 | g.32064164C>T | CA425627020 | SPAST | c.333C>T (p.Gly111=) c.217C>T c.203C>T c.75C>T (p.Gly25=) c.209C>T c.174C>T (p.Gly58=) c.167C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064165G>A | CA346602319 | SPAST | c.334G>A (p.Glu112Lys) c.218G>A c.204G>A c.76G>A (p.Glu26Lys) c.210G>A c.175G>A (p.Glu59Lys) c.168G>A | dbSNP |
2 | g.32064165G>C | CA346602317 | SPAST | c.334G>C (p.Glu112Gln) c.218G>C c.204G>C c.76G>C (p.Glu26Gln) c.210G>C c.175G>C (p.Glu59Gln) c.168G>C | |
2 | g.32064165G= | CA1242461792 | SPAST | c.334G= (p.Glu112=) c.218G= c.204G= c.76G= (p.Glu26=) c.210G= c.175G= (p.Glu59=) c.168G= | |
2 | g.32064165G>T | CA346602318 | SPAST | c.334G>T (p.Glu112Ter) c.218G>T c.204G>T c.76G>T (p.Glu26Ter) c.210G>T c.175G>T (p.Glu59Ter) c.168G>T | ClinVar dbSNP gnomAD v4 |
2 | g.32064166A>C | CA346602320 | SPAST | c.335A>C (p.Glu112Ala) c.219A>C c.205A>C c.77A>C (p.Glu26Ala) c.211A>C c.176A>C (p.Glu59Ala) c.169A>C | ClinVar gnomAD v4 |
2 | g.32064166A>G | CA346602321 | SPAST | c.335A>G (p.Glu112Gly) c.219A>G c.205A>G c.77A>G (p.Glu26Gly) c.211A>G c.176A>G (p.Glu59Gly) c.169A>G | |
2 | g.32064166A>T | CA346602323 | SPAST | c.335A>T (p.Glu112Val) c.219A>T c.205A>T c.77A>T (p.Glu26Val) c.211A>T c.176A>T (p.Glu59Val) c.169A>T | |
2 | g.32064166_32064169delinsAGGC | CA1242461793 | SPAST | c.335_338delinsAGGC (p.Glu112=) c.219_222delinsAGGC c.205_208delinsAGGC c.77_80delinsAGGC (p.Glu26=) c.211_214delinsAGGC c.176_179delinsAGGC (p.Glu59=) c.169_172delinsAGGC | |
2 | g.32064167G>A | CA425627026 | SPAST | c.336G>A (p.Glu112=) c.220G>A c.206G>A c.78G>A (p.Glu26=) c.212G>A c.177G>A (p.Glu59=) c.170G>A | |
2 | g.32064167G>C | CA346602325 | SPAST | c.336G>C (p.Glu112Asp) c.220G>C c.206G>C c.78G>C (p.Glu26Asp) c.212G>C c.177G>C (p.Glu59Asp) c.170G>C | |
2 | g.32064167G>T | CA346602327 | SPAST | c.336G>T (p.Glu112Asp) c.220G>T c.206G>T c.78G>T (p.Glu26Asp) c.212G>T c.177G>T (p.Glu59Asp) c.170G>T | |
2 | g.32064167_32064169del | CA767739037 | SPAST | c.336_338del (p.Glu112_Ala113delinsAsp) c.220_222del c.206_208del c.78_80del (p.Glu26_Ala27delinsAsp) c.212_214del c.177_179del (p.Glu59_Ala60delinsAsp) c.170_172del | dbSNP |
2 | g.32064168G>A | CA346602329 | SPAST | c.337G>A (p.Ala113Thr) c.221G>A c.207G>A c.79G>A (p.Ala27Thr) c.213G>A c.178G>A (p.Ala60Thr) c.171G>A | gnomAD v4 |
2 | g.32064168G>C | CA346602331 | SPAST | c.337G>C (p.Ala113Pro) c.221G>C c.207G>C c.79G>C (p.Ala27Pro) c.213G>C c.178G>C (p.Ala60Pro) c.171G>C | |
2 | g.32064168G= | CA1242461794 | SPAST | c.337G= (p.Ala113=) c.221G= c.207G= c.79G= (p.Ala27=) c.213G= c.178G= (p.Ala60=) c.171G= | |
2 | g.32064168G>T | CA346602333 | SPAST | c.337G>T (p.Ala113Ser) c.221G>T c.207G>T c.79G>T (p.Ala27Ser) c.213G>T c.178G>T (p.Ala60Ser) c.171G>T | gnomAD v4 |
2 | g.32064169C>A | CA346602334 | SPAST | c.338C>A (p.Ala113Asp) c.222C>A c.208C>A c.80C>A (p.Ala27Asp) c.214C>A c.179C>A (p.Ala60Asp) c.172C>A | gnomAD v4 |
2 | g.32064169C>G | CA346602335 | SPAST | c.338C>G (p.Ala113Gly) c.222C>G c.208C>G c.80C>G (p.Ala27Gly) c.214C>G c.179C>G (p.Ala60Gly) c.172C>G | gnomAD v4 |
2 | g.32064169C>T | CA346602339 | SPAST | c.338C>T (p.Ala113Val) c.222C>T c.208C>T c.80C>T (p.Ala27Val) c.214C>T c.179C>T (p.Ala60Val) c.172C>T | gnomAD v4 |
2 | g.32064174_32064183dup | CA1242461795 | SPAST | c.343_352dup (p.Val118AlafsTer21) c.227_236dup c.213_222dup c.85_94dup (p.Val32AlafsTer21) c.219_228dup c.184_193dup (p.Val65AlafsTer21) c.177_186dup | dbSNP |
2 | g.32064170C>A | CA425627041 | SPAST | c.339C>A (p.Ala113=) c.223C>A c.209C>A c.81C>A (p.Ala27=) c.215C>A c.180C>A (p.Ala60=) c.173C>A | gnomAD v4 |
2 | g.32064170C>G | CA425627035 | SPAST | c.339C>G (p.Ala113=) c.223C>G c.209C>G c.81C>G (p.Ala27=) c.215C>G c.180C>G (p.Ala60=) c.173C>G | gnomAD v4 |
2 | g.32064170C>T | CA425627037 | SPAST | c.339C>T (p.Ala113=) c.223C>T c.209C>T c.81C>T (p.Ala27=) c.215C>T c.180C>T (p.Ala60=) c.173C>T | ClinVar gnomAD v4 |
2 | g.32064171G>A | CA346602343 | SPAST | c.340G>A (p.Glu114Lys) c.224G>A c.210G>A c.82G>A (p.Glu28Lys) c.216G>A c.181G>A (p.Glu61Lys) c.174G>A | dbSNP gnomAD v4 |
2 | g.32064171G>C | CA346602345 | SPAST | c.340G>C (p.Glu114Gln) c.224G>C c.210G>C c.82G>C (p.Glu28Gln) c.216G>C c.181G>C (p.Glu61Gln) c.174G>C | dbSNP |
2 | g.32064171G= | CA1242461796 | SPAST | c.340G= (p.Glu114=) c.224G= c.210G= c.82G= (p.Glu28=) c.216G= c.181G= (p.Glu61=) c.174G= | |
2 | g.32064171G>T | CA346602341 | SPAST | c.340G>T (p.Glu114Ter) c.224G>T c.210G>T c.82G>T (p.Glu28Ter) c.216G>T c.181G>T (p.Glu61Ter) c.174G>T | ClinVar dbSNP gnomAD v4 |
2 | g.32064172A>C | CA346602350 | SPAST | c.341A>C (p.Glu114Ala) c.225A>C c.211A>C c.83A>C (p.Glu28Ala) c.217A>C c.182A>C (p.Glu61Ala) c.175A>C | ClinVar |
2 | g.32064172A>G | CA346602346 | SPAST | c.341A>G (p.Glu114Gly) c.225A>G c.211A>G c.83A>G (p.Glu28Gly) c.217A>G c.182A>G (p.Glu61Gly) c.175A>G | gnomAD v4 |
2 | g.32064172A>T | CA346602348 | SPAST | c.341A>T (p.Glu114Val) c.225A>T c.211A>T c.83A>T (p.Glu28Val) c.217A>T c.182A>T (p.Glu61Val) c.175A>T | |
2 | g.32064173G>A | CA425627046 | SPAST | c.342G>A (p.Glu114=) c.226G>A c.212G>A c.84G>A (p.Glu28=) c.218G>A c.183G>A (p.Glu61=) c.176G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064173G>C | CA346602352 | SPAST | c.342G>C (p.Glu114Asp) c.226G>C c.212G>C c.84G>C (p.Glu28Asp) c.218G>C c.183G>C (p.Glu61Asp) c.176G>C | |
2 | g.32064173G= | CA1242461797 | SPAST | c.342G= (p.Glu114=) c.226G= c.212G= c.84G= (p.Glu28=) c.218G= c.183G= (p.Glu61=) c.176G= | |
2 | g.32064173G>T | CA346602353 | SPAST | c.342G>T (p.Glu114Asp) c.226G>T c.212G>T c.84G>T (p.Glu28Asp) c.218G>T c.183G>T (p.Glu61Asp) c.176G>T | dbSNP gnomAD v4 |
2 | g.32064174C>A | CA346602354 | SPAST | c.343C>A (p.Arg115Ser) c.227C>A c.213C>A c.85C>A (p.Arg29Ser) c.219C>A c.184C>A (p.Arg62Ser) c.177C>A | gnomAD v4 |
2 | g.32064174C= | CA1242461798 | SPAST | c.343C= (p.Arg115=) c.227C= c.213C= c.85C= (p.Arg29=) c.219C= c.184C= (p.Arg62=) c.177C= | |
2 | g.32064174C>G | CA346602355 | SPAST | c.343C>G (p.Arg115Gly) c.227C>G c.213C>G c.85C>G (p.Arg29Gly) c.219C>G c.184C>G (p.Arg62Gly) c.177C>G | |
2 | g.32064174C>T | CA346602356 | SPAST | c.343C>T (p.Arg115Cys) c.227C>T c.213C>T c.85C>T (p.Arg29Cys) c.219C>T c.184C>T (p.Arg62Cys) c.177C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064175G>A | CA346602357 | SPAST | c.344G>A (p.Arg115His) c.228G>A c.214G>A c.86G>A (p.Arg29His) c.220G>A c.185G>A (p.Arg62His) c.178G>A | gnomAD v4 |
2 | g.32064175G>C | CA346602358 | SPAST | c.344G>C (p.Arg115Pro) c.228G>C c.214G>C c.86G>C (p.Arg29Pro) c.220G>C c.185G>C (p.Arg62Pro) c.178G>C | |
2 | g.32064175G>T | CA346602359 | SPAST | c.344G>T (p.Arg115Leu) c.228G>T c.214G>T c.86G>T (p.Arg29Leu) c.220G>T c.185G>T (p.Arg62Leu) c.178G>T | gnomAD v4 |
2 | g.32064175_32064184dup | CA891842789 | SPAST | c.344_353dup (p.Phe119ArgfsTer20) c.228_237dup c.214_223dup c.86_95dup (p.Phe33ArgfsTer20) c.220_229dup c.185_194dup (p.Phe66ArgfsTer20) c.178_187dup | ClinVar dbSNP |
2 | g.32064176C>A | CA425627064 | SPAST | c.345C>A (p.Arg115=) c.229C>A c.215C>A c.87C>A (p.Arg29=) c.221C>A c.186C>A (p.Arg62=) c.179C>A | gnomAD v4 |
2 | g.32064176C= | CA1242461799 | SPAST | c.345C= (p.Arg115=) c.229C= c.215C= c.87C= (p.Arg29=) c.221C= c.186C= (p.Arg62=) c.179C= | |
2 | g.32064176C>G | CA425627061 | SPAST | c.345C>G (p.Arg115=) c.229C>G c.215C>G c.87C>G (p.Arg29=) c.221C>G c.186C>G (p.Arg62=) c.179C>G | |
2 | g.32064176C>T | CA425627065 | SPAST | c.345C>T (p.Arg115=) c.229C>T c.215C>T c.87C>T (p.Arg29=) c.221C>T c.186C>T (p.Arg62=) c.179C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064177del | CA2586968948 | SPAST | c.346del (p.Val116SerfsTer?) c.230del c.216del c.88del (p.Val30SerfsTer?) c.222del c.187del (p.Val63SerfsTer24) c.180del | |
2 | g.32064177G>A | CA346602360 | SPAST | c.346G>A (p.Val116Ile) c.230G>A c.216G>A c.88G>A (p.Val30Ile) c.222G>A c.187G>A (p.Val63Ile) c.180G>A | gnomAD v4 |
2 | g.32064177G>C | CA346602361 | SPAST | c.346G>C (p.Val116Leu) c.230G>C c.216G>C c.88G>C (p.Val30Leu) c.222G>C c.187G>C (p.Val63Leu) c.180G>C | |
2 | g.32064177G>T | CA346602362 | SPAST | c.346G>T (p.Val116Phe) c.230G>T c.216G>T c.88G>T (p.Val30Phe) c.222G>T c.187G>T (p.Val63Phe) c.180G>T | gnomAD v4 |
2 | g.32064178T>A | CA346602363 | SPAST | c.347T>A (p.Val116Asp) c.231T>A c.217T>A c.89T>A (p.Val30Asp) c.223T>A c.188T>A (p.Val63Asp) c.181T>A | |
2 | g.32064178T>C | CA346602365 | SPAST | c.347T>C (p.Val116Ala) c.231T>C c.217T>C c.89T>C (p.Val30Ala) c.223T>C c.188T>C (p.Val63Ala) c.181T>C | |
2 | g.32064178T>G | CA346602364 | SPAST | c.347T>G (p.Val116Gly) c.231T>G c.217T>G c.89T>G (p.Val30Gly) c.223T>G c.188T>G (p.Val63Gly) c.181T>G | ClinVar gnomAD v4 |
2 | g.32064179C>A | CA425627074 | SPAST | c.348C>A (p.Val116=) c.232C>A c.218C>A c.90C>A (p.Val30=) c.224C>A c.189C>A (p.Val63=) c.182C>A | gnomAD v4 |
2 | g.32064179C>G | CA425627077 | SPAST | c.348C>G (p.Val116=) c.232C>G c.218C>G c.90C>G (p.Val30=) c.224C>G c.189C>G (p.Val63=) c.182C>G | |
2 | g.32064179C>T | CA425627081 | SPAST | c.348C>T (p.Val116=) c.232C>T c.218C>T c.90C>T (p.Val30=) c.224C>T c.189C>T (p.Val63=) c.182C>T | |
2 | g.32064180C>A | CA425627085 | SPAST | c.349C>A (p.Arg117=) c.233C>A c.219C>A c.91C>A (p.Arg31=) c.225C>A c.190C>A (p.Arg64=) c.183C>A | gnomAD v4 |
2 | g.32064180C= | CA1242461800 | SPAST | c.349C= (p.Arg117=) c.233C= c.219C= c.91C= (p.Arg31=) c.225C= c.190C= (p.Arg64=) c.183C= | |
2 | g.32064180C>G | CA346602366 | SPAST | c.349C>G (p.Arg117Gly) c.233C>G c.219C>G c.91C>G (p.Arg31Gly) c.225C>G c.190C>G (p.Arg64Gly) c.183C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064180C>T | CA346602367 | SPAST | c.349C>T (p.Arg117Ter) c.233C>T c.219C>T c.91C>T (p.Arg31Ter) c.225C>T c.190C>T (p.Arg64Ter) c.183C>T | dbSNP gnomAD v4 |
2 | g.32064181G>A | CA346602368 | SPAST | c.350G>A (p.Arg117Gln) c.234G>A c.220G>A c.92G>A (p.Arg31Gln) c.226G>A c.191G>A (p.Arg64Gln) c.184G>A | gnomAD v4 |
2 | g.32064181G>C | CA346602369 | SPAST | c.350G>C (p.Arg117Pro) c.234G>C c.220G>C c.92G>C (p.Arg31Pro) c.226G>C c.191G>C (p.Arg64Pro) c.184G>C | |
2 | g.32064181G>T | CA346602370 | SPAST | c.350G>T (p.Arg117Leu) c.234G>T c.220G>T c.92G>T (p.Arg31Leu) c.226G>T c.191G>T (p.Arg64Leu) c.184G>T | gnomAD v4 |
2 | g.32064182A>C | CA425627091 | SPAST | c.351A>C (p.Arg117=) c.235A>C c.221A>C c.93A>C (p.Arg31=) c.227A>C c.192A>C (p.Arg64=) c.185A>C | |
2 | g.32064182A>G | CA425627093 | SPAST | c.351A>G (p.Arg117=) c.235A>G c.221A>G c.93A>G (p.Arg31=) c.227A>G c.192A>G (p.Arg64=) c.185A>G | |
2 | g.32064182A>T | CA425627094 | SPAST | c.351A>T (p.Arg117=) c.235A>T c.221A>T c.93A>T (p.Arg31=) c.227A>T c.192A>T (p.Arg64=) c.185A>T | gnomAD v4 |
2 | g.32064183G>A | CA346602371 | SPAST | c.352G>A (p.Val118Ile) c.236G>A c.222G>A c.94G>A (p.Val32Ile) c.228G>A c.193G>A (p.Val65Ile) c.186G>A | gnomAD v4 |
2 | g.32064183G>C | CA346602372 | SPAST | c.352G>C (p.Val118Leu) c.236G>C c.222G>C c.94G>C (p.Val32Leu) c.228G>C c.193G>C (p.Val65Leu) c.186G>C | ClinVar dbSNP gnomAD v4 |
2 | g.32064183G= | CA1242461801 | SPAST | c.352G= (p.Val118=) c.236G= c.222G= c.94G= (p.Val32=) c.228G= c.193G= (p.Val65=) c.186G= | |
2 | g.32064183G>T | CA346602373 | SPAST | c.352G>T (p.Val118Phe) c.236G>T c.222G>T c.94G>T (p.Val32Phe) c.228G>T c.193G>T (p.Val65Phe) c.186G>T | dbSNP gnomAD v4 |
2 | g.32064184T>A | CA346602374 | SPAST | c.353T>A (p.Val118Asp) c.237T>A c.223T>A c.95T>A (p.Val32Asp) c.229T>A c.194T>A (p.Val65Asp) c.187T>A | |
2 | g.32064184T>C | CA346602375 | SPAST | c.353T>C (p.Val118Ala) c.237T>C c.223T>C c.95T>C (p.Val32Ala) c.229T>C c.194T>C (p.Val65Ala) c.187T>C | |
2 | g.32064184T>G | CA346602376 | SPAST | c.353T>G (p.Val118Gly) c.237T>G c.223T>G c.95T>G (p.Val32Gly) c.229T>G c.194T>G (p.Val65Gly) c.187T>G | |
2 | g.32064185C>A | CA425627107 | SPAST | c.354C>A (p.Val118=) c.238C>A c.224C>A c.96C>A (p.Val32=) c.230C>A c.195C>A (p.Val65=) c.188C>A | gnomAD v4 |
2 | g.32064185C>G | CA425627108 | SPAST | c.354C>G (p.Val118=) c.238C>G c.224C>G c.96C>G (p.Val32=) c.230C>G c.195C>G (p.Val65=) c.188C>G | |
2 | g.32064185C>T | CA425627109 | SPAST | c.354C>T (p.Val118=) c.238C>T c.224C>T c.96C>T (p.Val32=) c.230C>T c.195C>T (p.Val65=) c.188C>T | gnomAD v4 |
2 | g.32064186T>A | CA346602378 | SPAST | c.355T>A (p.Phe119Ile) c.239T>A c.225T>A c.97T>A (p.Phe33Ile) c.231T>A c.196T>A (p.Phe66Ile) c.189T>A | |
2 | g.32064186T>C | CA346602379 | SPAST | c.355T>C (p.Phe119Leu) c.239T>C c.225T>C c.97T>C (p.Phe33Leu) c.231T>C c.196T>C (p.Phe66Leu) c.189T>C | gnomAD v4 |
2 | g.32064186T>G | CA346602377 | SPAST | c.355T>G (p.Phe119Val) c.239T>G c.225T>G c.97T>G (p.Phe33Val) c.231T>G c.196T>G (p.Phe66Val) c.189T>G | |
2 | g.32064187T>A | CA346602380 | SPAST | c.356T>A (p.Phe119Tyr) c.240T>A c.226T>A c.98T>A (p.Phe33Tyr) c.232T>A c.197T>A (p.Phe66Tyr) c.190T>A | |
2 | g.32064187T>C | CA346602381 | SPAST | c.356T>C (p.Phe119Ser) c.240T>C c.226T>C c.98T>C (p.Phe33Ser) c.232T>C c.197T>C (p.Phe66Ser) c.190T>C | |
2 | g.32064187T>G | CA346602382 | SPAST | c.356T>G (p.Phe119Cys) c.240T>G c.226T>G c.98T>G (p.Phe33Cys) c.232T>G c.197T>G (p.Phe66Cys) c.190T>G | |
2 | g.32064188C>A | CA346602383 | SPAST | c.357C>A (p.Phe119Leu) c.241C>A c.227C>A c.99C>A (p.Phe33Leu) c.233C>A c.198C>A (p.Phe66Leu) c.191C>A | gnomAD v4 |
2 | g.32064188C>G | CA346602384 | SPAST | c.357C>G (p.Phe119Leu) c.241C>G c.227C>G c.99C>G (p.Phe33Leu) c.233C>G c.198C>G (p.Phe66Leu) c.191C>G | gnomAD v4 |
2 | g.32064188C>T | CA425627134 | SPAST | c.357C>T (p.Phe119=) c.241C>T c.227C>T c.99C>T (p.Phe33=) c.233C>T c.198C>T (p.Phe66=) c.191C>T | gnomAD v4 |
2 | g.32064189del | CA2573051927 | SPAST | c.358del (p.His120ThrfsTer?) c.242del c.228del c.100del (p.His34ThrfsTer?) c.234del c.199del (p.His67ThrfsTer20) c.192del | ClinVar dbSNP |
2 | g.32064189C>A | CA346602385 | SPAST | c.358C>A (p.His120Asn) c.242C>A c.228C>A c.100C>A (p.His34Asn) c.234C>A c.199C>A (p.His67Asn) c.192C>A | ClinVar gnomAD v4 |
2 | g.32064189C>G | CA346602386 | SPAST | c.358C>G (p.His120Asp) c.242C>G c.228C>G c.100C>G (p.His34Asp) c.234C>G c.199C>G (p.His67Asp) c.192C>G | |
2 | g.32064189C>T | CA346602387 | SPAST | c.358C>T (p.His120Tyr) c.242C>T c.228C>T c.100C>T (p.His34Tyr) c.234C>T c.199C>T (p.His67Tyr) c.192C>T | |
2 | g.32064190A>C | CA346602388 | SPAST | c.359A>C (p.His120Pro) c.243A>C c.229A>C c.101A>C (p.His34Pro) c.235A>C c.200A>C (p.His67Pro) c.193A>C | |
2 | g.32064190A>G | CA346602389 | SPAST | c.359A>G (p.His120Arg) c.243A>G c.229A>G c.101A>G (p.His34Arg) c.235A>G c.200A>G (p.His67Arg) c.193A>G | |
2 | g.32064190A>T | CA346602390 | SPAST | c.359A>T (p.His120Leu) c.243A>T c.229A>T c.101A>T (p.His34Leu) c.235A>T c.200A>T (p.His67Leu) c.193A>T | gnomAD v4 |
2 | g.32064191C>A | CA346602391 | SPAST | c.360C>A (p.His120Gln) c.244C>A c.230C>A c.102C>A (p.His34Gln) c.236C>A c.201C>A (p.His67Gln) c.194C>A | gnomAD v4 |
2 | g.32064191C= | CA1242461802 | SPAST | c.360C= (p.His120=) c.244C= c.230C= c.102C= (p.His34=) c.236C= c.201C= (p.His67=) c.194C= | |
2 | g.32064191C>G | CA346602392 | SPAST | c.360C>G (p.His120Gln) c.244C>G c.230C>G c.102C>G (p.His34Gln) c.236C>G c.201C>G (p.His67Gln) c.194C>G | gnomAD v4 |
2 | g.32064191C>T | CA425627147 | SPAST | c.360C>T (p.His120=) c.244C>T c.230C>T c.102C>T (p.His34=) c.236C>T c.201C>T (p.His67=) c.194C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064191_32064192delinsCA | CA1242461803 | SPAST | c.360_361delinsCA (p.His120=) c.244_245delinsCA c.230_231delinsCA c.102_103delinsCA (p.His34=) c.236_237delinsCA c.201_202delinsCA (p.His67=) c.194_195delinsCA | |
2 | g.32064192A= | CA1242461804 | SPAST | c.361A= (p.Lys121=) c.245A= c.231A= c.103A= (p.Lys35=) c.237A= c.202A= (p.Lys68=) c.195A= | |
2 | g.32064192A>C | CA346602395 | SPAST | c.361A>C (p.Lys121Gln) c.245A>C c.231A>C c.103A>C (p.Lys35Gln) c.237A>C c.202A>C (p.Lys68Gln) c.195A>C | |
2 | g.32064192A>G | CA346602394 | SPAST | c.361A>G (p.Lys121Glu) c.245A>G c.231A>G c.103A>G (p.Lys35Glu) c.237A>G c.202A>G (p.Lys68Glu) c.195A>G | gnomAD v4 |
2 | g.32064192A>T | CA346602393 | SPAST | c.361A>T (p.Lys121Ter) c.245A>T c.231A>T c.103A>T (p.Lys35Ter) c.237A>T c.202A>T (p.Lys68Ter) c.195A>T | ClinVar dbSNP |
2 | g.32064194del | CA658657014 | SPAST | c.363del (p.Lys121AsnfsTer?) c.247del c.233del c.105del (p.Lys35AsnfsTer?) c.239del c.204del (p.Lys68AsnfsTer19) c.197del | ClinVar dbSNP |
2 | g.32064193A>C | CA346602396 | SPAST | c.362A>C (p.Lys121Thr) c.246A>C c.232A>C c.104A>C (p.Lys35Thr) c.238A>C c.203A>C (p.Lys68Thr) c.196A>C | gnomAD v4 |
2 | g.32064193A>G | CA346602397 | SPAST | c.362A>G (p.Lys121Arg) c.246A>G c.232A>G c.104A>G (p.Lys35Arg) c.238A>G c.203A>G (p.Lys68Arg) c.196A>G | gnomAD v4 |
2 | g.32064193A>T | CA346602398 | SPAST | c.362A>T (p.Lys121Ile) c.246A>T c.232A>T c.104A>T (p.Lys35Ile) c.238A>T c.203A>T (p.Lys68Ile) c.196A>T | |
2 | g.32064194A>C | CA346602399 | SPAST | c.363A>C (p.Lys121Asn) c.247A>C c.233A>C c.105A>C (p.Lys35Asn) c.239A>C c.204A>C (p.Lys68Asn) c.197A>C | |
2 | g.32064194A>G | CA425627152 | SPAST | c.363A>G (p.Lys121=) c.247A>G c.233A>G c.105A>G (p.Lys35=) c.239A>G c.204A>G (p.Lys68=) c.197A>G | gnomAD v4 |
2 | g.32064194A>T | CA346602400 | SPAST | c.363A>T (p.Lys121Asn) c.247A>T c.233A>T c.105A>T (p.Lys35Asn) c.239A>T c.204A>T (p.Lys68Asn) c.197A>T | gnomAD v4 |
2 | g.32064195C>A | CA346602401 | SPAST | c.364C>A (p.Gln122Lys) c.248C>A c.234C>A c.106C>A (p.Gln36Lys) c.240C>A c.205C>A (p.Gln69Lys) c.198C>A | gnomAD v4 |
2 | g.32064195C= | CA1242461805 | SPAST | c.364C= (p.Gln122=) c.248C= c.234C= c.106C= (p.Gln36=) c.240C= c.205C= (p.Gln69=) c.198C= | |
2 | g.32064195C>G | CA346602402 | SPAST | c.364C>G (p.Gln122Glu) c.248C>G c.234C>G c.106C>G (p.Gln36Glu) c.240C>G c.205C>G (p.Gln69Glu) c.198C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064195C>T | CA346602403 | SPAST | c.364C>T (p.Gln122Ter) c.248C>T c.234C>T c.106C>T (p.Gln36Ter) c.240C>T c.205C>T (p.Gln69Ter) c.198C>T | ClinVar dbSNP gnomAD v4 |
2 | g.32064196A= | CA1242461806 | SPAST | c.365A= (p.Gln122=) c.249A= c.235A= c.107A= (p.Gln36=) c.241A= c.206A= (p.Gln69=) c.199A= | |
2 | g.32064196A>C | CA346602404 | SPAST | c.365A>C (p.Gln122Pro) c.249A>C c.235A>C c.107A>C (p.Gln36Pro) c.241A>C c.206A>C (p.Gln69Pro) c.199A>C | gnomAD v4 |
2 | g.32064196A>G | CA346602405 | SPAST | c.365A>G (p.Gln122Arg) c.249A>G c.235A>G c.107A>G (p.Gln36Arg) c.241A>G c.206A>G (p.Gln69Arg) c.199A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064196A>T | CA346602406 | SPAST | c.365A>T (p.Gln122Leu) c.249A>T c.235A>T c.107A>T (p.Gln36Leu) c.241A>T c.206A>T (p.Gln69Leu) c.199A>T | dbSNP gnomAD v2 |
2 | g.32064197G>A | CA425627162 | SPAST | c.366G>A (p.Gln122=) c.250G>A c.236G>A c.108G>A (p.Gln36=) c.242G>A c.207G>A (p.Gln69=) c.200G>A | gnomAD v4 |
2 | g.32064197G>C | CA346602407 | SPAST | c.366G>C (p.Gln122His) c.250G>C c.236G>C c.108G>C (p.Gln36His) c.242G>C c.207G>C (p.Gln69His) c.200G>C | gnomAD v4 |
2 | g.32064197G>T | CA346602408 | SPAST | c.366G>T (p.Gln122His) c.250G>T c.236G>T c.108G>T (p.Gln36His) c.242G>T c.207G>T (p.Gln69His) c.200G>T | gnomAD v4 |
2 | g.32064198G>A | CA346602409 | SPAST | c.367G>A (p.Ala123Thr) c.251G>A c.237G>A c.109G>A (p.Ala37Thr) c.243G>A c.208G>A (p.Ala70Thr) c.201G>A | gnomAD v4 |
2 | g.32064198G>C | CA346602411 | SPAST | c.367G>C (p.Ala123Pro) c.251G>C c.237G>C c.109G>C (p.Ala37Pro) c.243G>C c.208G>C (p.Ala70Pro) c.201G>C | |
2 | g.32064198G>T | CA346602410 | SPAST | c.367G>T (p.Ala123Ser) c.251G>T c.237G>T c.109G>T (p.Ala37Ser) c.243G>T c.208G>T (p.Ala70Ser) c.201G>T | gnomAD v4 |
2 | g.32064198delinsTA | CA2586968950 | SPAST | c.367delinsTA (p.Ala123TyrfsTer13) c.251delinsTA c.237delinsTA c.109delinsTA (p.Ala37TyrfsTer13) c.243delinsTA c.208delinsTA (p.Ala70TyrfsTer13) c.201delinsTA | |
2 | g.32064199C>A | CA346602412 | SPAST | c.368C>A (p.Ala123Asp) c.252C>A c.238C>A c.110C>A (p.Ala37Asp) c.244C>A c.209C>A (p.Ala70Asp) c.202C>A | gnomAD v4 |
2 | g.32064199C>G | CA346602414 | SPAST | c.368C>G (p.Ala123Gly) c.252C>G c.238C>G c.110C>G (p.Ala37Gly) c.244C>G c.209C>G (p.Ala70Gly) c.202C>G | |
2 | g.32064199C>T | CA346602413 | SPAST | c.368C>T (p.Ala123Val) c.252C>T c.238C>T c.110C>T (p.Ala37Val) c.244C>T c.209C>T (p.Ala70Val) c.202C>T | gnomAD v4 |
2 | g.32064200dup | CA2739274305 | SPAST | c.369dup (p.Phe124LeufsTer12) c.253dup c.239dup c.111dup (p.Phe38LeufsTer12) c.245dup c.210dup (p.Phe71LeufsTer12) c.203dup | ClinVar |
2 | g.32064200C>A | CA425627174 | SPAST | c.369C>A (p.Ala123=) c.253C>A c.239C>A c.111C>A (p.Ala37=) c.245C>A c.210C>A (p.Ala70=) c.203C>A | gnomAD v4 |
2 | g.32064200C= | CA1242461807 | SPAST | c.369C= (p.Ala123=) c.253C= c.239C= c.111C= (p.Ala37=) c.245C= c.210C= (p.Ala70=) c.203C= | |
2 | g.32064200C>G | CA45201412 | SPAST | c.369C>G (p.Ala123=) c.253C>G c.239C>G c.111C>G (p.Ala37=) c.245C>G c.210C>G (p.Ala70=) c.203C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064200C>T | CA425627172 | SPAST | c.369C>T (p.Ala123=) c.253C>T c.239C>T c.111C>T (p.Ala37=) c.245C>T c.210C>T (p.Ala70=) c.203C>T | ClinVar dbSNP gnomAD v4 |
2 | g.32064201T>A | CA346602415 | SPAST | c.370T>A (p.Phe124Ile) c.254T>A c.240T>A c.112T>A (p.Phe38Ile) c.246T>A c.211T>A (p.Phe71Ile) c.204T>A | gnomAD v4 |
2 | g.32064201T>C | CA346602417 | SPAST | c.370T>C (p.Phe124Leu) c.254T>C c.240T>C c.112T>C (p.Phe38Leu) c.246T>C c.211T>C (p.Phe71Leu) c.204T>C | gnomAD v4 |
2 | g.32064201T>G | CA346602416 | SPAST | c.370T>G (p.Phe124Val) c.254T>G c.240T>G c.112T>G (p.Phe38Val) c.246T>G c.211T>G (p.Phe71Val) c.204T>G | |
2 | g.32064202T>A | CA346602418 | SPAST | c.371T>A (p.Phe124Tyr) c.255T>A c.241T>A c.113T>A (p.Phe38Tyr) c.247T>A c.212T>A (p.Phe71Tyr) c.205T>A | |
2 | g.32064202T>C | CA346602420 | SPAST | c.371T>C (p.Phe124Ser) c.255T>C c.241T>C c.113T>C (p.Phe38Ser) c.247T>C c.212T>C (p.Phe71Ser) c.205T>C | |
2 | g.32064202T>G | CA346602419 | SPAST | c.371T>G (p.Phe124Cys) c.255T>G c.241T>G c.113T>G (p.Phe38Cys) c.247T>G c.212T>G (p.Phe71Cys) c.205T>G | |
2 | g.32064203C>A | CA346602421 | SPAST | c.372C>A (p.Phe124Leu) c.256C>A c.242C>A c.114C>A (p.Phe38Leu) c.248C>A c.213C>A (p.Phe71Leu) c.206C>A | gnomAD v4 |
2 | g.32064203C= | CA1242461808 | SPAST | c.372C= (p.Phe124=) c.256C= c.242C= c.114C= (p.Phe38=) c.248C= c.213C= (p.Phe71=) c.206C= | |
2 | g.32064203C>G | CA346602422 | SPAST | c.372C>G (p.Phe124Leu) c.256C>G c.242C>G c.114C>G (p.Phe38Leu) c.248C>G c.213C>G (p.Phe71Leu) c.206C>G | ClinVar dbSNP gnomAD v4 |
2 | g.32064203C>T | CA1600561 | SPAST | c.372C>T (p.Phe124=) c.256C>T c.242C>T c.114C>T (p.Phe38=) c.248C>T c.213C>T (p.Phe71=) c.206C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064204G>A | CA346602423 | SPAST | c.373G>A (p.Glu125Lys) c.257G>A c.243G>A c.115G>A (p.Glu39Lys) c.249G>A c.214G>A (p.Glu72Lys) c.207G>A | gnomAD v4 |
2 | g.32064204G>C | CA346602425 | SPAST | c.373G>C (p.Glu125Gln) c.257G>C c.243G>C c.115G>C (p.Glu39Gln) c.249G>C c.214G>C (p.Glu72Gln) c.207G>C | |
2 | g.32064204G= | CA1242461809 | SPAST | c.373G= (p.Glu125=) c.257G= c.243G= c.115G= (p.Glu39=) c.249G= c.214G= (p.Glu72=) c.207G= | |
2 | g.32064204G>T | CA346602424 | SPAST | c.373G>T (p.Glu125Ter) c.257G>T c.243G>T c.115G>T (p.Glu39Ter) c.249G>T c.214G>T (p.Glu72Ter) c.207G>T | dbSNP gnomAD v4 |
2 | g.32064205A>C | CA346602426 | SPAST | c.374A>C (p.Glu125Ala) c.258A>C c.244A>C c.116A>C (p.Glu39Ala) c.250A>C c.215A>C (p.Glu72Ala) c.208A>C | |
2 | g.32064205A>G | CA346602428 | SPAST | c.374A>G (p.Glu125Gly) c.258A>G c.244A>G c.116A>G (p.Glu39Gly) c.250A>G c.215A>G (p.Glu72Gly) c.208A>G | |
2 | g.32064205A>T | CA346602427 | SPAST | c.374A>T (p.Glu125Val) c.258A>T c.244A>T c.116A>T (p.Glu39Val) c.250A>T c.215A>T (p.Glu72Val) c.208A>T | gnomAD v4 |
2 | g.32064206G>A | CA425627213 | SPAST | c.375G>A (p.Glu125=) c.259G>A c.245G>A c.117G>A (p.Glu39=) c.251G>A c.216G>A (p.Glu72=) c.209G>A | gnomAD v4 |
2 | g.32064206G>C | CA346602429 | SPAST | c.375G>C (p.Glu125Asp) c.259G>C c.245G>C c.117G>C (p.Glu39Asp) c.251G>C c.216G>C (p.Glu72Asp) c.209G>C | |
2 | g.32064206G>T | CA346602430 | SPAST | c.375G>T (p.Glu125Asp) c.259G>T c.245G>T c.117G>T (p.Glu39Asp) c.251G>T c.216G>T (p.Glu72Asp) c.209G>T | gnomAD v4 |
2 | g.32064207T>A | CA346602431 | SPAST | c.376T>A (p.Tyr126Asn) c.260T>A c.246T>A c.118T>A (p.Tyr40Asn) c.252T>A c.217T>A (p.Tyr73Asn) c.210T>A | |
2 | g.32064207T>C | CA346602432 | SPAST | c.376T>C (p.Tyr126His) c.260T>C c.246T>C c.118T>C (p.Tyr40His) c.252T>C c.217T>C (p.Tyr73His) c.210T>C | gnomAD v4 |
2 | g.32064207T>G | CA346602433 | SPAST | c.376T>G (p.Tyr126Asp) c.260T>G c.246T>G c.118T>G (p.Tyr40Asp) c.252T>G c.217T>G (p.Tyr73Asp) c.210T>G | |
2 | g.32064207_32064208dup | CA2586968951 | SPAST | c.376_377dup (p.Ile127ThrfsTer?) c.260_261dup c.246_247dup c.118_119dup (p.Ile41ThrfsTer?) c.252_253dup c.217_218dup (p.Ile74ThrfsTer14) c.210_211dup | |
2 | g.32064208A= | CA1242461810 | SPAST | c.377A= (p.Tyr126=) c.261A= c.247A= c.119A= (p.Tyr40=) c.253A= c.218A= (p.Tyr73=) c.211A= | |
2 | g.32064208A>C | CA346602435 | SPAST | c.377A>C (p.Tyr126Ser) c.261A>C c.247A>C c.119A>C (p.Tyr40Ser) c.253A>C c.218A>C (p.Tyr73Ser) c.211A>C | |
2 | g.32064208A>G | CA1600562 | SPAST | c.377A>G (p.Tyr126Cys) c.261A>G c.247A>G c.119A>G (p.Tyr40Cys) c.253A>G c.218A>G (p.Tyr73Cys) c.211A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32064208A>T | CA346602434 | SPAST | c.377A>T (p.Tyr126Phe) c.261A>T c.247A>T c.119A>T (p.Tyr40Phe) c.253A>T c.218A>T (p.Tyr73Phe) c.211A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064209C>A | CA346602436 | SPAST | c.378C>A (p.Tyr126Ter) c.262C>A c.248C>A c.120C>A (p.Tyr40Ter) c.254C>A c.219C>A (p.Tyr73Ter) c.212C>A | gnomAD v4 |
2 | g.32064209C= | CA1242461811 | SPAST | c.378C= (p.Tyr126=) c.262C= c.248C= c.120C= (p.Tyr40=) c.254C= c.219C= (p.Tyr73=) c.212C= | |
2 | g.32064209C>G | CA346602437 | SPAST | c.378C>G (p.Tyr126Ter) c.262C>G c.248C>G c.120C>G (p.Tyr40Ter) c.254C>G c.219C>G (p.Tyr73Ter) c.212C>G | gnomAD v4 |
2 | g.32064209C>T | CA1600563 | SPAST | c.378C>T (p.Tyr126=) c.262C>T c.248C>T c.120C>T (p.Tyr40=) c.254C>T c.219C>T (p.Tyr73=) c.212C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32064210A= | CA1242461812 | SPAST | c.379A= (p.Ile127=) c.263A= c.249A= c.121A= (p.Ile41=) c.255A= c.220A= (p.Ile74=) c.213A= | |
2 | g.32064210A>C | CA346602438 | SPAST | c.379A>C (p.Ile127Leu) c.263A>C c.249A>C c.121A>C (p.Ile41Leu) c.255A>C c.220A>C (p.Ile74Leu) c.213A>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064210A>G | CA346602439 | SPAST | c.379A>G (p.Ile127Val) c.263A>G c.249A>G c.121A>G (p.Ile41Val) c.255A>G c.220A>G (p.Ile74Val) c.213A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064210A>T | CA346602440 | SPAST | c.379A>T (p.Ile127Phe) c.263A>T c.249A>T c.121A>T (p.Ile41Phe) c.255A>T c.220A>T (p.Ile74Phe) c.213A>T | |
2 | g.32064210_32064211dup | CA2576929940 | SPAST | c.379_380dup (p.Ile129ProfsTer?) c.263_264dup c.249_250dup c.121_122dup (p.Ile43ProfsTer?) c.255_256dup c.220_221dup (p.Ile76ProfsTer12) c.213_214dup | |
2 | g.32064211T>A | CA346602441 | SPAST | c.380T>A (p.Ile127Asn) c.264T>A c.250T>A c.122T>A (p.Ile41Asn) c.256T>A c.221T>A (p.Ile74Asn) c.1T>A c.214T>A | gnomAD v4 |
2 | g.32064211T>C | CA346602443 | SPAST | c.380T>C (p.Ile127Thr) c.264T>C c.250T>C c.122T>C (p.Ile41Thr) c.256T>C c.221T>C (p.Ile74Thr) c.1T>C c.214T>C | gnomAD v4 |
2 | g.32064211T>G | CA346602442 | SPAST | c.380T>G (p.Ile127Ser) c.264T>G c.250T>G c.122T>G (p.Ile41Ser) c.256T>G c.221T>G (p.Ile74Ser) c.1T>G c.214T>G | gnomAD v4 |
2 | g.32064212C>A | CA425627234 | SPAST | c.381C>A (p.Ile127=) c.265C>A c.251C>A c.123C>A (p.Ile41=) c.257C>A c.222C>A (p.Ile74=) c.2C>A c.215C>A | gnomAD v4 |
2 | g.32064212C= | CA1242461813 | SPAST | c.381C= (p.Ile127=) c.265C= c.251C= c.123C= (p.Ile41=) c.257C= c.222C= (p.Ile74=) c.2C= c.215C= | |
2 | g.32064212C>G | CA346602444 | SPAST | c.381C>G (p.Ile127Met) c.265C>G c.251C>G c.123C>G (p.Ile41Met) c.257C>G c.222C>G (p.Ile74Met) c.2C>G c.215C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064212C>T | CA425627235 | SPAST | c.381C>T (p.Ile127=) c.265C>T c.251C>T c.123C>T (p.Ile41=) c.257C>T c.222C>T (p.Ile74=) c.2C>T c.215C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064213del | CA2586968952 | SPAST | c.382del (p.Ser128ProfsTer?) c.266del c.252del c.124del (p.Ser42ProfsTer?) c.258del c.223del (p.Ser75ProfsTer12) c.3del c.216del | |
2 | g.32064213T>A | CA346602445 | SPAST | c.382T>A (p.Ser128Thr) c.266T>A c.252T>A c.124T>A (p.Ser42Thr) c.258T>A c.223T>A (p.Ser75Thr) c.3T>A c.216T>A | gnomAD v4 |
2 | g.32064213T>C | CA346602446 | SPAST | c.382T>C (p.Ser128Pro) c.266T>C c.252T>C c.124T>C (p.Ser42Pro) c.258T>C c.223T>C (p.Ser75Pro) c.3T>C c.216T>C | gnomAD v4 |
2 | g.32064213T>G | CA346602447 | SPAST | c.382T>G (p.Ser128Ala) c.266T>G c.252T>G c.124T>G (p.Ser42Ala) c.258T>G c.223T>G (p.Ser75Ala) c.3T>G c.216T>G | dbSNP gnomAD v4 |
2 | g.32064213T= | CA1242461814 | SPAST | c.382T= (p.Ser128=) c.266T= c.252T= c.124T= (p.Ser42=) c.258T= c.223T= (p.Ser75=) c.3T= c.216T= | |
2 | g.32064214C>A | CA346602448 | SPAST | c.383C>A (p.Ser128Tyr) c.267C>A c.253C>A c.125C>A (p.Ser42Tyr) c.259C>A c.224C>A (p.Ser75Tyr) c.4C>A c.217C>A | gnomAD v4 |
2 | g.32064214C>G | CA346602449 | SPAST | c.383C>G (p.Ser128Cys) c.267C>G c.253C>G c.125C>G (p.Ser42Cys) c.259C>G c.224C>G (p.Ser75Cys) c.4C>G c.217C>G | gnomAD v4 |
2 | g.32064214C>T | CA346602450 | SPAST | c.383C>T (p.Ser128Phe) c.267C>T c.253C>T c.125C>T (p.Ser42Phe) c.259C>T c.224C>T (p.Ser75Phe) c.4C>T c.217C>T | gnomAD v4 |
2 | g.32064215C>A | CA425627240 | SPAST | c.384C>A (p.Ser128=) c.268C>A c.254C>A c.126C>A (p.Ser42=) c.260C>A c.225C>A (p.Ser75=) c.5C>A c.218C>A | gnomAD v4 |
2 | g.32064215C= | CA1242461815 | SPAST | c.384C= (p.Ser128=) c.268C= c.254C= c.126C= (p.Ser42=) c.260C= c.225C= (p.Ser75=) c.5C= c.218C= | |
2 | g.32064215C>G | CA425627241 | SPAST | c.384C>G (p.Ser128=) c.268C>G c.254C>G c.126C>G (p.Ser42=) c.260C>G c.225C>G (p.Ser75=) c.5C>G c.218C>G | gnomAD v4 |
2 | g.32064215C>T | CA425627242 | SPAST | c.384C>T (p.Ser128=) c.268C>T c.254C>T c.126C>T (p.Ser42=) c.260C>T c.225C>T (p.Ser75=) c.5C>T c.218C>T | dbSNP gnomAD v4 |
2 | g.32064216A= | CA1242461816 | SPAST | c.385A= (p.Ile129=) c.269A= c.255A= c.127A= (p.Ile43=) c.261A= c.226A= (p.Ile76=) c.6A= c.219A= | |
2 | g.32064216A>C | CA346602451 | SPAST | c.385A>C (p.Ile129Leu) c.269A>C c.255A>C c.127A>C (p.Ile43Leu) c.261A>C c.226A>C (p.Ile76Leu) c.6A>C c.219A>C | gnomAD v4 |
2 | g.32064216A>G | CA346602452 | SPAST | c.385A>G (p.Ile129Val) c.269A>G c.255A>G c.127A>G (p.Ile43Val) c.261A>G c.226A>G (p.Ile76Val) c.6A>G c.219A>G | ClinVar dbSNP gnomAD v4 |
2 | g.32064216A>T | CA346602453 | SPAST | c.385A>T (p.Ile129Phe) c.269A>T c.255A>T c.127A>T (p.Ile43Phe) c.261A>T c.226A>T (p.Ile76Phe) c.6A>T c.219A>T | gnomAD v4 COSMIC |
2 | g.32064217T>A | CA346602454 | SPAST | c.386T>A (p.Ile129Asn) c.270T>A c.256T>A c.128T>A (p.Ile43Asn) c.262T>A c.227T>A (p.Ile76Asn) c.7T>A c.220T>A | |
2 | g.32064217T>C | CA346602456 | SPAST | c.386T>C (p.Ile129Thr) c.270T>C c.256T>C c.128T>C (p.Ile43Thr) c.262T>C c.227T>C (p.Ile76Thr) c.7T>C c.220T>C | gnomAD v4 |
2 | g.32064217T>G | CA346602455 | SPAST | c.386T>G (p.Ile129Ser) c.270T>G c.256T>G c.128T>G (p.Ile43Ser) c.262T>G c.227T>G (p.Ile76Ser) c.7T>G c.220T>G | |
2 | g.32064217_32064222delinsTTGCCC | CA1242461817 | SPAST | c.386_391delinsTTGCCC (p.Ile129=) c.270_275delinsTTGCCC c.256_261delinsTTGCCC c.128_133delinsTTGCCC (p.Ile43=) c.262_267delinsTTGCCC c.227_232delinsTTGCCC (p.Ile76=) c.7_12delinsTTGCCC c.220_225delinsTTGCCC | |
2 | g.32064218T>A | CA425627257 | SPAST | c.387T>A (p.Ile129=) c.271T>A c.257T>A c.129T>A (p.Ile43=) c.263T>A c.228T>A (p.Ile76=) c.8T>A c.221T>A | gnomAD v4 |
2 | g.32064218T>C | CA425627261 | SPAST | c.387T>C (p.Ile129=) c.271T>C c.257T>C c.129T>C (p.Ile43=) c.263T>C c.228T>C (p.Ile76=) c.8T>C c.221T>C | gnomAD v4 |
2 | g.32064218T>G | CA346602457 | SPAST | c.387T>G (p.Ile129Met) c.271T>G c.257T>G c.129T>G (p.Ile43Met) c.263T>G c.228T>G (p.Ile76Met) c.8T>G c.221T>G | |
2 | g.32064221_32064225del | CA916504285 | SPAST | c.390_394del (p.Leu131HisfsTer3) c.274_278del c.260_264del c.132_136del (p.Leu45HisfsTer3) c.266_270del c.231_235del (p.Leu78HisfsTer3) c.11_15del c.224_228del | dbSNP |
2 | g.32064219G>A | CA346602458 | SPAST | c.388G>A (p.Ala130Thr) c.272G>A c.258G>A c.130G>A (p.Ala44Thr) c.264G>A c.229G>A (p.Ala77Thr) c.9G>A c.222G>A | gnomAD v4 |
2 | g.32064219G>C | CA346602459 | SPAST | c.388G>C (p.Ala130Pro) c.272G>C c.258G>C c.130G>C (p.Ala44Pro) c.264G>C c.229G>C (p.Ala77Pro) c.9G>C c.222G>C | gnomAD v4 |
2 | g.32064219G>T | CA346602460 | SPAST | c.388G>T (p.Ala130Ser) c.272G>T c.258G>T c.130G>T (p.Ala44Ser) c.264G>T c.229G>T (p.Ala77Ser) c.9G>T c.222G>T | gnomAD v4 |
2 | g.32064220C>A | CA346602461 | SPAST | c.389C>A (p.Ala130Asp) c.273C>A c.259C>A c.131C>A (p.Ala44Asp) c.265C>A c.230C>A (p.Ala77Asp) c.10C>A c.223C>A | gnomAD v4 |
2 | g.32064220C= | CA1242461819 | SPAST | c.389C= (p.Ala130=) c.273C= c.259C= c.131C= (p.Ala44=) c.265C= c.230C= (p.Ala77=) c.10C= c.223C= | |
2 | g.32064220C>G | CA346602462 | SPAST | c.389C>G (p.Ala130Gly) c.273C>G c.259C>G c.131C>G (p.Ala44Gly) c.265C>G c.230C>G (p.Ala77Gly) c.10C>G c.223C>G | gnomAD v4 |
2 | g.32064220C>T | CA346602463 | SPAST | c.389C>T (p.Ala130Val) c.273C>T c.259C>T c.131C>T (p.Ala44Val) c.265C>T c.230C>T (p.Ala77Val) c.10C>T c.223C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064220_32064222delinsCCC | CA1242461818 | SPAST | c.389_391delinsCCC (p.Ala130=) c.273_275delinsCCC c.259_261delinsCCC c.131_133delinsCCC (p.Ala44=) c.265_267delinsCCC c.230_232delinsCCC (p.Ala77=) c.10_12delinsCCC c.223_225delinsCCC | |
2 | g.32064221_32064222del | CA2573051928 | SPAST | c.390_391del (p.Leu131AlafsTer4) c.274_275del c.260_261del c.132_133del (p.Leu45AlafsTer4) c.266_267del c.231_232del (p.Leu78AlafsTer4) c.11_12del c.224_225del | ClinVar dbSNP |
2 | g.32064221C>A | CA425627280 | SPAST | c.390C>A (p.Ala130=) c.274C>A c.260C>A c.132C>A (p.Ala44=) c.266C>A c.231C>A (p.Ala77=) c.11C>A c.224C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064221C= | CA1242461820 | SPAST | c.390C= (p.Ala130=) c.274C= c.260C= c.132C= (p.Ala44=) c.266C= c.231C= (p.Ala77=) c.11C= c.224C= | |
2 | g.32064221C>G | CA425627282 | SPAST | c.390C>G (p.Ala130=) c.274C>G c.260C>G c.132C>G (p.Ala44=) c.266C>G c.231C>G (p.Ala77=) c.11C>G c.224C>G | ClinVar gnomAD v4 |
2 | g.32064221C>T | CA425627281 | SPAST | c.390C>T (p.Ala130=) c.274C>T c.260C>T c.132C>T (p.Ala44=) c.266C>T c.231C>T (p.Ala77=) c.11C>T c.224C>T | gnomAD v4 |
2 | g.32064221_32064222delinsGGT | CA16610759 | SPAST | c.390_391delinsGGT (p.Leu131ValfsTer5) c.274_275delinsGGT c.260_261delinsGGT c.132_133delinsGGT (p.Leu45ValfsTer5) c.266_267delinsGGT c.231_232delinsGGT (p.Leu78ValfsTer5) c.11_12delinsGGT c.224_225delinsGGT | ClinVar dbSNP |
2 | g.32064222C>A | CA346602464 | SPAST | c.391C>A (p.Leu131Met) c.275C>A c.261C>A c.133C>A (p.Leu45Met) c.267C>A c.232C>A (p.Leu78Met) c.12C>A c.225C>A | gnomAD v4 |
2 | g.32064222C= | CA1242461821 | SPAST | c.391C= (p.Leu131=) c.275C= c.261C= c.133C= (p.Leu45=) c.267C= c.232C= (p.Leu78=) c.12C= c.225C= | |
2 | g.32064222C>G | CA346602465 | SPAST | c.391C>G (p.Leu131Val) c.275C>G c.261C>G c.133C>G (p.Leu45Val) c.267C>G c.232C>G (p.Leu78Val) c.12C>G c.225C>G | |
2 | g.32064222C>T | CA425627284 | SPAST | c.391C>T (p.Leu131=) c.275C>T c.261C>T c.133C>T (p.Leu45=) c.267C>T c.232C>T (p.Leu78=) c.12C>T c.225C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064222_32064223insGGT | CA2573051929 | SPAST | c.391_392insGGT (p.Ala130_Leu131insArg) c.275_276insGGT c.261_262insGGT c.133_134insGGT (p.Ala44_Leu45insArg) c.267_268insGGT c.232_233insGGT (p.Ala77_Leu78insArg) c.12_13insGGT c.225_226insGGT | ClinVar dbSNP |
2 | g.32064223T>A | CA346602466 | SPAST | c.392T>A (p.Leu131Gln) c.276T>A c.262T>A c.134T>A (p.Leu45Gln) c.268T>A c.233T>A (p.Leu78Gln) c.13T>A c.226T>A | |
2 | g.32064223T>C | CA346602467 | SPAST | c.392T>C (p.Leu131Pro) c.276T>C c.262T>C c.134T>C (p.Leu45Pro) c.268T>C c.233T>C (p.Leu78Pro) c.13T>C c.226T>C | gnomAD v4 |
2 | g.32064223T>G | CA346602468 | SPAST | c.392T>G (p.Leu131Arg) c.276T>G c.262T>G c.134T>G (p.Leu45Arg) c.268T>G c.233T>G (p.Leu78Arg) c.13T>G c.226T>G | |
2 | g.32064224G>A | CA425627304 | SPAST | c.393G>A (p.Leu131=) c.277G>A c.263G>A c.135G>A (p.Leu45=) c.269G>A c.234G>A (p.Leu78=) c.14G>A c.227G>A | gnomAD v4 |
2 | g.32064224G>C | CA425627305 | SPAST | c.393G>C (p.Leu131=) c.277G>C c.263G>C c.135G>C (p.Leu45=) c.269G>C c.234G>C (p.Leu78=) c.14G>C c.227G>C | |
2 | g.32064224G>T | CA425627306 | SPAST | c.393G>T (p.Leu131=) c.277G>T c.263G>T c.135G>T (p.Leu45=) c.269G>T c.234G>T (p.Leu78=) c.14G>T c.227G>T | gnomAD v4 |
2 | g.32064225C>A | CA346602469 | SPAST | c.394C>A (p.Arg132Ser) c.278C>A c.264C>A c.136C>A (p.Arg46Ser) c.270C>A c.235C>A (p.Arg79Ser) c.15C>A c.228C>A | gnomAD v4 |
2 | g.32064225C>G | CA346602471 | SPAST | c.394C>G (p.Arg132Gly) c.278C>G c.264C>G c.136C>G (p.Arg46Gly) c.270C>G c.235C>G (p.Arg79Gly) c.15C>G c.228C>G | |
2 | g.32064225C>T | CA346602470 | SPAST | c.394C>T (p.Arg132Cys) c.278C>T c.264C>T c.136C>T (p.Arg46Cys) c.270C>T c.235C>T (p.Arg79Cys) c.15C>T c.228C>T | gnomAD v4 |
2 | g.32064226G>A | CA346602472 | SPAST | c.395G>A (p.Arg132His) c.279G>A c.265G>A c.137G>A (p.Arg46His) c.271G>A c.236G>A (p.Arg79His) c.16G>A c.229G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064226G>C | CA346602473 | SPAST | c.395G>C (p.Arg132Pro) c.279G>C c.265G>C c.137G>C (p.Arg46Pro) c.271G>C c.236G>C (p.Arg79Pro) c.16G>C c.229G>C | |
2 | g.32064226G= | CA1242461822 | SPAST | c.395G= (p.Arg132=) c.279G= c.265G= c.137G= (p.Arg46=) c.271G= c.236G= (p.Arg79=) c.16G= c.229G= | |
2 | g.32064226G>T | CA346602474 | SPAST | c.395G>T (p.Arg132Leu) c.279G>T c.265G>T c.137G>T (p.Arg46Leu) c.271G>T c.236G>T (p.Arg79Leu) c.16G>T c.229G>T | gnomAD v4 |
2 | g.32064227C>A | CA425627336 | SPAST | c.396C>A (p.Arg132=) c.280C>A c.266C>A c.138C>A (p.Arg46=) c.272C>A c.237C>A (p.Arg79=) c.17C>A c.230C>A | gnomAD v4 |
2 | g.32064227C>G | CA425627343 | SPAST | c.396C>G (p.Arg132=) c.280C>G c.266C>G c.138C>G (p.Arg46=) c.272C>G c.237C>G (p.Arg79=) c.17C>G c.230C>G | |
2 | g.32064227C>T | CA425627341 | SPAST | c.396C>T (p.Arg132=) c.280C>T c.266C>T c.138C>T (p.Arg46=) c.272C>T c.237C>T (p.Arg79=) c.17C>T c.230C>T | gnomAD v4 |
2 | g.32064228A= | CA1242461823 | SPAST | c.397A= (p.Ile133=) c.281A= c.267A= c.139A= (p.Ile47=) c.273A= c.238A= (p.Ile80=) c.18A= c.231A= | |
2 | g.32064228A>C | CA346602475 | SPAST | c.397A>C (p.Ile133Leu) c.281A>C c.267A>C c.139A>C (p.Ile47Leu) c.273A>C c.238A>C (p.Ile80Leu) c.18A>C c.231A>C | |
2 | g.32064228A>G | CA346602476 | SPAST | c.397A>G (p.Ile133Val) c.281A>G c.267A>G c.139A>G (p.Ile47Val) c.273A>G c.238A>G (p.Ile80Val) c.18A>G c.231A>G | ClinVar dbSNP gnomAD v4 |
2 | g.32064228A>T | CA346602477 | SPAST | c.397A>T (p.Ile133Phe) c.281A>T c.267A>T c.139A>T (p.Ile47Phe) c.273A>T c.238A>T (p.Ile80Phe) c.18A>T c.231A>T | gnomAD v4 |
2 | g.32064229T>A | CA346602478 | SPAST | c.398T>A (p.Ile133Asn) c.282T>A c.268T>A c.140T>A (p.Ile47Asn) c.274T>A c.239T>A (p.Ile80Asn) c.19T>A c.232T>A | |
2 | g.32064229T>C | CA346602479 | SPAST | c.398T>C (p.Ile133Thr) c.282T>C c.268T>C c.140T>C (p.Ile47Thr) c.274T>C c.239T>C (p.Ile80Thr) c.19T>C c.232T>C | dbSNP |
2 | g.32064229T>G | CA346602480 | SPAST | c.398T>G (p.Ile133Ser) c.282T>G c.268T>G c.140T>G (p.Ile47Ser) c.274T>G c.239T>G (p.Ile80Ser) c.19T>G c.232T>G | |
2 | g.32064229T= | CA1242461824 | SPAST | c.398T= (p.Ile133=) c.282T= c.268T= c.140T= (p.Ile47=) c.274T= c.239T= (p.Ile80=) c.19T= c.232T= | |
2 | g.32064230C>A | CA425627356 | SPAST | c.399C>A (p.Ile133=) c.283C>A c.269C>A c.141C>A (p.Ile47=) c.275C>A c.240C>A (p.Ile80=) c.20C>A c.233C>A | gnomAD v4 |
2 | g.32064230C= | CA1242461825 | SPAST | c.399C= (p.Ile133=) c.283C= c.269C= c.141C= (p.Ile47=) c.275C= c.240C= (p.Ile80=) c.20C= c.233C= | |
2 | g.32064230C>G | CA346602481 | SPAST | c.399C>G (p.Ile133Met) c.283C>G c.269C>G c.141C>G (p.Ile47Met) c.275C>G c.240C>G (p.Ile80Met) c.20C>G c.233C>G | |
2 | g.32064230C>T | CA425627361 | SPAST | c.399C>T (p.Ile133=) c.283C>T c.269C>T c.141C>T (p.Ile47=) c.275C>T c.240C>T (p.Ile80=) c.20C>T c.233C>T | dbSNP gnomAD v4 |
2 | g.32064231G>A | CA346602483 | SPAST | c.400G>A (p.Asp134Asn) c.284G>A c.270G>A c.142G>A (p.Asp48Asn) c.276G>A c.241G>A (p.Asp81Asn) c.21G>A c.234G>A | gnomAD v4 |
2 | g.32064231G>C | CA346602484 | SPAST | c.400G>C (p.Asp134His) c.284G>C c.270G>C c.142G>C (p.Asp48His) c.276G>C c.241G>C (p.Asp81His) c.21G>C c.234G>C | dbSNP |
2 | g.32064231G= | CA1242461826 | SPAST | c.400G= (p.Asp134=) c.284G= c.270G= c.142G= (p.Asp48=) c.276G= c.241G= (p.Asp81=) c.21G= c.234G= | |
2 | g.32064231G>T | CA346602482 | SPAST | c.400G>T (p.Asp134Tyr) c.284G>T c.270G>T c.142G>T (p.Asp48Tyr) c.276G>T c.241G>T (p.Asp81Tyr) c.21G>T c.234G>T | gnomAD v4 |
2 | g.32064232A>C | CA346602485 | SPAST | c.401A>C (p.Asp134Ala) c.285A>C c.271A>C c.143A>C (p.Asp48Ala) c.277A>C c.242A>C (p.Asp81Ala) c.22A>C c.235A>C | |
2 | g.32064232A>G | CA346602486 | SPAST | c.401A>G (p.Asp134Gly) c.285A>G c.271A>G c.143A>G (p.Asp48Gly) c.277A>G c.242A>G (p.Asp81Gly) c.22A>G c.235A>G | gnomAD v4 |
2 | g.32064232A>T | CA346602487 | SPAST | c.401A>T (p.Asp134Val) c.285A>T c.271A>T c.143A>T (p.Asp48Val) c.277A>T c.242A>T (p.Asp81Val) c.22A>T c.235A>T | gnomAD v4 |
2 | g.32064233T>A | CA346602488 | SPAST | c.402T>A (p.Asp134Glu) c.286T>A c.272T>A c.144T>A (p.Asp48Glu) c.278T>A c.243T>A (p.Asp81Glu) c.23T>A c.236T>A | gnomAD v4 |
2 | g.32064233T>C | CA425627372 | SPAST | c.402T>C (p.Asp134=) c.286T>C c.272T>C c.144T>C (p.Asp48=) c.278T>C c.243T>C (p.Asp81=) c.23T>C c.236T>C | ClinVar gnomAD v4 |
2 | g.32064233T>G | CA346602489 | SPAST | c.402T>G (p.Asp134Glu) c.286T>G c.272T>G c.144T>G (p.Asp48Glu) c.278T>G c.243T>G (p.Asp81Glu) c.23T>G c.236T>G | gnomAD v3 gnomAD v4 |
2 | g.32064234G>A | CA346602492 | SPAST | c.403G>A (p.Glu135Lys) c.287G>A c.273G>A c.145G>A (p.Glu49Lys) c.279G>A c.244G>A (p.Glu82Lys) c.24G>A c.237G>A | gnomAD v4 |
2 | g.32064234G>C | CA346602490 | SPAST | c.403G>C (p.Glu135Gln) c.287G>C c.273G>C c.145G>C (p.Glu49Gln) c.279G>C c.244G>C (p.Glu82Gln) c.24G>C c.237G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064234G= | CA1242461827 | SPAST | c.403G= (p.Glu135=) c.287G= c.273G= c.145G= (p.Glu49=) c.279G= c.244G= (p.Glu82=) c.24G= c.237G= | |
2 | g.32064234G>T | CA346602491 | SPAST | c.403G>T (p.Glu135Ter) c.287G>T c.273G>T c.145G>T (p.Glu49Ter) c.279G>T c.244G>T (p.Glu82Ter) c.24G>T c.237G>T | dbSNP gnomAD v4 |
2 | g.32064235A= | CA1242461828 | SPAST | c.404A= (p.Glu135=) c.288A= c.274A= c.146A= (p.Glu49=) c.280A= c.245A= (p.Glu82=) c.25A= c.238A= | |
2 | g.32064235A>C | CA346602493 | SPAST | c.404A>C (p.Glu135Ala) c.288A>C c.274A>C c.146A>C (p.Glu49Ala) c.280A>C c.245A>C (p.Glu82Ala) c.25A>C c.238A>C | gnomAD v4 |
2 | g.32064235A>G | CA346602494 | SPAST | c.404A>G (p.Glu135Gly) c.288A>G c.274A>G c.146A>G (p.Glu49Gly) c.280A>G c.245A>G (p.Glu82Gly) c.25A>G c.238A>G | gnomAD v4 |
2 | g.32064235A>T | CA346602495 | SPAST | c.404A>T (p.Glu135Val) c.288A>T c.274A>T c.146A>T (p.Glu49Val) c.280A>T c.245A>T (p.Glu82Val) c.25A>T c.238A>T | gnomAD v4 |
2 | g.32064236G>A | CA425627393 | SPAST | c.405G>A (p.Glu135=) c.289G>A c.275G>A c.147G>A (p.Glu49=) c.281G>A c.246G>A (p.Glu82=) c.26G>A c.239G>A | gnomAD v4 |
2 | g.32064236G>C | CA45201413 | SPAST | c.405G>C (p.Glu135Asp) c.289G>C c.275G>C c.147G>C (p.Glu49Asp) c.281G>C c.246G>C (p.Glu82Asp) c.26G>C c.239G>C | dbSNP gnomAD v4 |
2 | g.32064236G= | CA1242461829 | SPAST | c.405G= (p.Glu135=) c.289G= c.275G= c.147G= (p.Glu49=) c.281G= c.246G= (p.Glu82=) c.26G= c.239G= | |
2 | g.32064236G>T | CA346602496 | SPAST | c.405G>T (p.Glu135Asp) c.289G>T c.275G>T c.147G>T (p.Glu49Asp) c.281G>T c.246G>T (p.Glu82Asp) c.26G>T c.239G>T | gnomAD v4 |
2 | g.32064236_32064240dup | CA1139656845 | SPAST | c.405_409dup (p.Glu137GlyfsTer?) c.405_409dup (p.Glu137GlyfsTer26) c.405_409dup (p.Glu137GlyfsTer25) c.289_293dup c.275_279dup c.147_151dup (p.Glu51GlyfsTer26) c.281_285dup c.246_250dup (p.Glu84GlyfsTer5) c.26_30dup c.239_243dup | ClinVar dbSNP |
2 | g.32064237G>A | CA346602499 | SPAST | c.406G>A (p.Asp136Asn) c.290G>A c.276G>A c.148G>A (p.Asp50Asn) c.282G>A c.247G>A (p.Asp83Asn) c.27G>A c.240G>A | gnomAD v4 |
2 | g.32064237G>C | CA346602497 | SPAST | c.406G>C (p.Asp136His) c.290G>C c.276G>C c.148G>C (p.Asp50His) c.282G>C c.247G>C (p.Asp83His) c.27G>C c.240G>C | |
2 | g.32064237G>T | CA346602498 | SPAST | c.406G>T (p.Asp136Tyr) c.290G>T c.276G>T c.148G>T (p.Asp50Tyr) c.282G>T c.247G>T (p.Asp83Tyr) c.27G>T c.240G>T | gnomAD v4 |
2 | g.32064238A>C | CA346602500 | SPAST | c.407A>C (p.Asp136Ala) c.291A>C c.277A>C c.149A>C (p.Asp50Ala) c.283A>C c.248A>C (p.Asp83Ala) c.28A>C c.241A>C | |
2 | g.32064238A>G | CA346602501 | SPAST | c.407A>G (p.Asp136Gly) c.291A>G c.277A>G c.149A>G (p.Asp50Gly) c.283A>G c.248A>G (p.Asp83Gly) c.28A>G c.241A>G | gnomAD v4 |
2 | g.32064238A>T | CA346602502 | SPAST | c.407A>T (p.Asp136Val) c.291A>T c.277A>T c.149A>T (p.Asp50Val) c.283A>T c.248A>T (p.Asp83Val) c.28A>T c.241A>T | gnomAD v4 |
2 | g.32064239T>A | CA346602503 | SPAST | c.408T>A (p.Asp136Glu) c.292T>A c.278T>A c.150T>A (p.Asp50Glu) c.284T>A c.249T>A (p.Asp83Glu) c.29T>A c.242T>A | gnomAD v4 |
2 | g.32064239T>C | CA425627400 | SPAST | c.408T>C (p.Asp136=) c.292T>C c.278T>C c.150T>C (p.Asp50=) c.284T>C c.249T>C (p.Asp83=) c.29T>C c.242T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064239T>G | CA346602504 | SPAST | c.408T>G (p.Asp136Glu) c.292T>G c.278T>G c.150T>G (p.Asp50Glu) c.284T>G c.249T>G (p.Asp83Glu) c.29T>G c.242T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064239T= | CA1242461830 | SPAST | c.408T= (p.Asp136=) c.292T= c.278T= c.150T= (p.Asp50=) c.284T= c.249T= (p.Asp83=) c.29T= c.242T= | |
2 | g.32064240G>A | CA346602505 | SPAST | c.409G>A (p.Glu137Lys) c.293G>A c.279G>A c.151G>A (p.Glu51Lys) c.285G>A c.250G>A (p.Glu84Lys) c.30G>A c.243G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064240G>C | CA346602506 | SPAST | c.409G>C (p.Glu137Gln) c.293G>C c.279G>C c.151G>C (p.Glu51Gln) c.285G>C c.250G>C (p.Glu84Gln) c.30G>C c.243G>C | gnomAD v4 |
2 | g.32064240G= | CA1242461832 | SPAST | c.409G= (p.Glu137=) c.293G= c.279G= c.151G= (p.Glu51=) c.285G= c.250G= (p.Glu84=) c.30G= c.243G= | |
2 | g.32064240G>T | CA346602507 | SPAST | c.409G>T (p.Glu137Ter) c.293G>T c.279G>T c.151G>T (p.Glu51Ter) c.285G>T c.250G>T (p.Glu84Ter) c.30G>T c.243G>T | gnomAD v4 |
2 | g.32064240_32064241delinsGA | CA1242461831 | SPAST | c.409_410delinsGA (p.Glu137=) c.293_294delinsGA c.279_280delinsGA c.151_152delinsGA (p.Glu51=) c.285_286delinsGA c.250_251delinsGA (p.Glu84=) c.30_31delinsGA c.243_244delinsGA | |
2 | g.32064242_32064243dup | CA2697547980 | SPAST | c.411_412dup (p.Lys138ArgfsTer?) c.411_412dup (p.Lys138ArgfsTer24) c.411_412dup (p.Lys138ArgfsTer23) c.295_296dup c.281_282dup c.153_154dup (p.Lys52ArgfsTer24) c.287_288dup c.252_253dup (p.Lys85ArgfsTer3) c.32_33dup c.245_246dup | ClinVar |
2 | g.32064241del | CA16610746 | SPAST | c.410del (p.Glu137GlyfsTer?) c.410del (p.Glu137GlyfsTer24) c.410del (p.Glu137GlyfsTer23) c.294del c.280del c.152del (p.Glu51GlyfsTer24) c.286del c.251del (p.Glu84GlyfsTer3) c.31del c.244del | ClinVar dbSNP |
2 | g.32064241A>C | CA346602508 | SPAST | c.410A>C (p.Glu137Ala) c.294A>C c.280A>C c.152A>C (p.Glu51Ala) c.286A>C c.251A>C (p.Glu84Ala) c.31A>C c.244A>C | |
2 | g.32064241A>G | CA346602509 | SPAST | c.410A>G (p.Glu137Gly) c.294A>G c.280A>G c.152A>G (p.Glu51Gly) c.286A>G c.251A>G (p.Glu84Gly) c.31A>G c.244A>G | gnomAD v4 |
2 | g.32064241A>T | CA346602510 | SPAST | c.410A>T (p.Glu137Val) c.294A>T c.280A>T c.152A>T (p.Glu51Val) c.286A>T c.251A>T (p.Glu84Val) c.31A>T c.244A>T | gnomAD v4 |
2 | g.32064242G>A | CA425627413 | SPAST | c.411G>A (p.Glu137=) c.295G>A c.281G>A c.153G>A (p.Glu51=) c.287G>A c.252G>A (p.Glu84=) c.32G>A c.245G>A | |
2 | g.32064242G>C | CA346602511 | SPAST | c.411G>C (p.Glu137Asp) c.295G>C c.281G>C c.153G>C (p.Glu51Asp) c.287G>C c.252G>C (p.Glu84Asp) c.32G>C c.245G>C | gnomAD v4 |
2 | g.32064242G>T | CA346602512 | SPAST | c.411G>T (p.Glu137Asp) c.295G>T c.281G>T c.153G>T (p.Glu51Asp) c.287G>T c.252G>T (p.Glu84Asp) c.32G>T c.245G>T | gnomAD v4 |
2 | g.32064243A= | CA1242461833 | SPAST | c.412A= (p.Lys138=) c.296A= c.282A= c.154A= (p.Lys52=) c.288A= c.253A= (p.Lys85=) c.33A= c.246A= | |
2 | g.32064243A>C | CA346602513 | SPAST | c.412A>C (p.Lys138Gln) c.296A>C c.282A>C c.154A>C (p.Lys52Gln) c.288A>C c.253A>C (p.Lys85Gln) c.33A>C c.246A>C | |
2 | g.32064243A>G | CA346602515 | SPAST | c.412A>G (p.Lys138Glu) c.296A>G c.282A>G c.154A>G (p.Lys52Glu) c.288A>G c.253A>G (p.Lys85Glu) c.33A>G c.246A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064243A>T | CA346602514 | SPAST | c.412A>T (p.Lys138Ter) c.296A>T c.282A>T c.154A>T (p.Lys52Ter) c.288A>T c.253A>T (p.Lys85Ter) c.33A>T c.246A>T | dbSNP |
2 | g.32064245del | CA2658519903 | SPAST | c.414del (p.Asp139MetfsTer?) c.414del (p.Ala139GlnfsTer22) c.414del (p.Gly139AspfsTer21) c.298del c.284del c.156del (p.Ala53GlnfsTer22) c.290del c.255del (p.Val86Ter) c.35del c.248del | gnomAD v4 |
2 | g.32064244A>C | CA346602516 | SPAST | c.413A>C (p.Lys138Thr) c.297A>C c.283A>C c.155A>C (p.Lys52Thr) c.289A>C c.254A>C (p.Lys85Thr) c.34A>C c.247A>C | |
2 | g.32064244A>G | CA346602517 | SPAST | c.413A>G (p.Lys138Arg) c.297A>G c.283A>G c.155A>G (p.Lys52Arg) c.289A>G c.254A>G (p.Lys85Arg) c.34A>G c.247A>G | |
2 | g.32064244A>T | CA346602518 | SPAST | c.413A>T (p.Lys138Ile) c.297A>T c.283A>T c.155A>T (p.Lys52Ile) c.289A>T c.254A>T (p.Lys85Ile) c.34A>T c.247A>T | gnomAD v4 |
2 | g.32064245A>C | CA346602519 | SPAST | c.414A>C (p.Lys138Asn) c.298A>C c.284A>C c.156A>C (p.Lys52Asn) c.290A>C c.255A>C (p.Lys85Asn) c.35A>C c.248A>C | gnomAD v4 |
2 | g.32064245A>G | CA425627442 | SPAST | c.414A>G (p.Lys138=) c.298A>G c.284A>G c.156A>G (p.Lys52=) c.290A>G c.255A>G (p.Lys85=) c.35A>G c.248A>G | gnomAD v3 gnomAD v4 |
2 | g.32064245A>T | CA346602520 | SPAST | c.414A>T (p.Lys138Asn) c.298A>T c.284A>T c.156A>T (p.Lys52Asn) c.290A>T c.255A>T (p.Lys85Asn) c.35A>T c.248A>T | gnomAD v4 |
2 | g.32064246G>A | CA45201414 | SPAST | c.415G>A (p.Asp139Asn) c.415G>A (p.Ala139Thr) c.415G>A (p.Gly139Arg) c.299G>A c.285G>A c.157G>A (p.Ala53Thr) c.291G>A c.256G>A (p.Val86Ile) c.36G>A c.249G>A | dbSNP gnomAD v4 |
2 | g.32064246G>C | CA346602521 | SPAST | c.415G>C (p.Asp139His) c.415G>C (p.Ala139Pro) c.415G>C (p.Gly139Arg) c.299G>C c.285G>C c.157G>C (p.Ala53Pro) c.291G>C c.256G>C (p.Val86Leu) c.36G>C c.249G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064246G= | CA1242461834 | SPAST | c.415G= (p.Asp139=) c.415G= (p.Ala139=) c.415G= (p.Gly139=) c.299G= c.285G= c.157G= (p.Ala53=) c.291G= c.256G= (p.Val86=) c.36G= c.249G= | |
2 | g.32064246G>T | CA346602522 | SPAST | c.415G>T (p.Asp139Tyr) c.415G>T (p.Ala139Ser) c.415G>T (p.Gly139Ter) c.299G>T c.285G>T c.157G>T (p.Ala53Ser) c.291G>T c.256G>T (p.Val86Leu) c.36G>T c.249G>T | gnomAD v4 |
2 | g.32064247G>A | CA346602523 | SPAST | c.415+1G>A (n.415+1G>A) c.299+1G>A c.285+1G>A c.157+1G>A (n.157+1G>A) c.291+1G>A c.256+1G>A (n.256+1G>A) c.36+1G>A c.249+1G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064247G>C | CA346602524 | SPAST | c.415+1G>C (n.415+1G>C) c.299+1G>C c.285+1G>C c.157+1G>C (n.157+1G>C) c.291+1G>C c.256+1G>C (n.256+1G>C) c.36+1G>C c.249+1G>C | ClinVar |
2 | g.32064247G= | CA1242461835 | SPAST | c.415+1G= (n.415+1G=) c.299+1G= c.285+1G= c.157+1G= (n.157+1G=) c.291+1G= c.256+1G= (n.256+1G=) c.36+1G= c.249+1G= | |
2 | g.32064247G>T | CA16604220 | SPAST | c.415+1G>T (n.415+1G>T) c.299+1G>T c.285+1G>T c.157+1G>T (n.157+1G>T) c.291+1G>T c.256+1G>T (n.256+1G>T) c.36+1G>T c.249+1G>T | ClinVar dbSNP gnomAD v4 |
2 | g.32064248T>A | CA346602525 | SPAST | c.415+2T>A (n.415+2T>A) c.299+2T>A c.285+2T>A c.157+2T>A (n.157+2T>A) c.291+2T>A c.256+2T>A (n.256+2T>A) c.36+2T>A c.249+2T>A | gnomAD v4 |
2 | g.32064248T>C | CA346602526 | SPAST | c.415+2T>C (n.415+2T>C) c.299+2T>C c.285+2T>C c.157+2T>C (n.157+2T>C) c.291+2T>C c.256+2T>C (n.256+2T>C) c.36+2T>C c.249+2T>C | gnomAD v4 |
2 | g.32064248T>G | CA346602527 | SPAST | c.415+2T>G (n.415+2T>G) c.299+2T>G c.285+2T>G c.157+2T>G (n.157+2T>G) c.291+2T>G c.256+2T>G (n.256+2T>G) c.36+2T>G c.249+2T>G | gnomAD v4 |
2 | g.32064249A>C | CA2658519904 | SPAST | c.415+3A>C (n.415+3A>C) c.299+3A>C c.285+3A>C c.157+3A>C (n.157+3A>C) c.291+3A>C c.256+3A>C (n.256+3A>C) c.36+3A>C c.249+3A>C | gnomAD v4 |
2 | g.32064249A>G | CA2658519905 | SPAST | c.415+3A>G (n.415+3A>G) c.299+3A>G c.285+3A>G c.157+3A>G (n.157+3A>G) c.291+3A>G c.256+3A>G (n.256+3A>G) c.36+3A>G c.249+3A>G | gnomAD v4 |
2 | g.32064249A>T | CA2658519906 | SPAST | c.415+3A>T (n.415+3A>T) c.299+3A>T c.285+3A>T c.157+3A>T (n.157+3A>T) c.291+3A>T c.256+3A>T (n.256+3A>T) c.36+3A>T c.249+3A>T | gnomAD v4 |
2 | g.32064250A>C | CA2658519909 | SPAST | c.415+4A>C (n.415+4A>C) c.299+4A>C c.285+4A>C c.157+4A>C (n.157+4A>C) c.291+4A>C c.256+4A>C (n.256+4A>C) c.36+4A>C c.249+4A>C | gnomAD v4 |
2 | g.32064250A>G | CA2658519907 | SPAST | c.415+4A>G (n.415+4A>G) c.299+4A>G c.285+4A>G c.157+4A>G (n.157+4A>G) c.291+4A>G c.256+4A>G (n.256+4A>G) c.36+4A>G c.249+4A>G | gnomAD v4 |
2 | g.32064250A>T | CA2658519908 | SPAST | c.415+4A>T (n.415+4A>T) c.299+4A>T c.285+4A>T c.157+4A>T (n.157+4A>T) c.291+4A>T c.256+4A>T (n.256+4A>T) c.36+4A>T c.249+4A>T | gnomAD v4 |
2 | g.32064251C>A | CA2658519910 | SPAST | c.415+5C>A (n.415+5C>A) c.299+5C>A c.285+5C>A c.157+5C>A (n.157+5C>A) c.291+5C>A c.256+5C>A (n.256+5C>A) c.36+5C>A c.249+5C>A | gnomAD v4 |
2 | g.32064251C>T | CA2658519911 | SPAST | c.415+5C>T (n.415+5C>T) c.299+5C>T c.285+5C>T c.157+5C>T (n.157+5C>T) c.291+5C>T c.256+5C>T (n.256+5C>T) c.36+5C>T c.249+5C>T | gnomAD v4 |
2 | g.32064252T>A | CA2658519913 | SPAST | c.415+6T>A (n.415+6T>A) c.299+6T>A c.285+6T>A c.157+6T>A (n.157+6T>A) c.291+6T>A c.256+6T>A (n.256+6T>A) c.36+6T>A c.249+6T>A | gnomAD v4 |
2 | g.32064252T>C | CA1242461836 | SPAST | c.415+6T>C (n.415+6T>C) c.299+6T>C c.285+6T>C c.157+6T>C (n.157+6T>C) c.291+6T>C c.256+6T>C (n.256+6T>C) c.36+6T>C c.249+6T>C | dbSNP gnomAD v4 |
2 | g.32064252T>G | CA2658519914 | SPAST | c.415+6T>G (n.415+6T>G) c.299+6T>G c.285+6T>G c.157+6T>G (n.157+6T>G) c.291+6T>G c.256+6T>G (n.256+6T>G) c.36+6T>G c.249+6T>G | gnomAD v4 |
2 | g.32064252T= | CA1242461837 | SPAST | c.415+6T= (n.415+6T=) c.299+6T= c.285+6T= c.157+6T= (n.157+6T=) c.291+6T= c.256+6T= (n.256+6T=) c.36+6T= c.249+6T= | |
2 | g.32064252_32064264del | CA2658519912 | SPAST | c.415+6_415+18del (n.415+6_415+18del) c.299+6_299+18del c.285+6_285+18del c.157+6_157+18del (n.157+6_157+18del) c.291+6_291+18del c.256+6_256+18del (n.256+6_256+18del) c.36+6_36+18del c.249+6_249+18del | dbSNP gnomAD v4 |