| 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.32064116_32064145del | CA2658519899 | SPAST | c.285_314del (p.Ala96_Pro105del) c.169_198del c.155_184del c.27_56del (p.Ala10_Pro19del) c.161_190del c.126_155del (p.Ala43_Pro52del) c.119_148del | gnomAD v4 |
| 2 | g.32064121C>A | CA346602135 | SPAST | c.290C>A (p.Pro97Gln) c.174C>A c.160C>A c.32C>A (p.Pro11Gln) c.166C>A c.131C>A (p.Pro44Gln) c.124C>A | |
| 2 | g.32064121C= | CA1242461755 | SPAST | c.290C= (p.Pro97=) c.174C= c.160C= c.32C= (p.Pro11=) c.166C= c.131C= (p.Pro44=) c.124C= | |
| 2 | g.32064121C>G | CA346602138 | SPAST | c.290C>G (p.Pro97Arg) c.174C>G c.160C>G c.32C>G (p.Pro11Arg) c.166C>G c.131C>G (p.Pro44Arg) c.124C>G | ClinVar dbSNP gnomAD v4 |
| 2 | g.32064121C>T | CA346602139 | SPAST | c.290C>T (p.Pro97Leu) c.174C>T c.160C>T c.32C>T (p.Pro11Leu) c.166C>T c.131C>T (p.Pro44Leu) c.124C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32064122A>C | CA425627992 | SPAST | c.291A>C (p.Pro97=) c.175A>C c.161A>C c.33A>C (p.Pro11=) c.167A>C c.132A>C (p.Pro44=) c.125A>C | |
| 2 | g.32064122A>G | CA425627994 | SPAST | c.291A>G (p.Pro97=) c.175A>G c.161A>G c.33A>G (p.Pro11=) c.167A>G c.132A>G (p.Pro44=) c.125A>G | |
| 2 | g.32064122A>T | CA425627996 | SPAST | c.291A>T (p.Pro97=) c.175A>T c.161A>T c.33A>T (p.Pro11=) c.167A>T c.132A>T (p.Pro44=) c.125A>T | |
| 2 | g.32064123G>A | CA346602143 | SPAST | c.292G>A (p.Ala98Thr) c.176G>A c.162G>A c.34G>A (p.Ala12Thr) c.168G>A c.133G>A (p.Ala45Thr) c.126G>A | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.32064123G>C | CA346602147 | SPAST | c.292G>C (p.Ala98Pro) c.176G>C c.162G>C c.34G>C (p.Ala12Pro) c.168G>C c.133G>C (p.Ala45Pro) c.126G>C | |
| 2 | g.32064123G= | CA1242461756 | SPAST | c.292G= (p.Ala98=) c.176G= c.162G= c.34G= (p.Ala12=) c.168G= c.133G= (p.Ala45=) c.126G= | |
| 2 | g.32064123G>T | CA346602144 | SPAST | c.292G>T (p.Ala98Ser) c.176G>T c.162G>T c.34G>T (p.Ala12Ser) c.168G>T c.133G>T (p.Ala45Ser) c.126G>T | gnomAD v4 |
| 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.32064124C>A | CA346602149 | SPAST | c.293C>A (p.Ala98Glu) c.177C>A c.163C>A c.35C>A (p.Ala12Glu) c.169C>A c.134C>A (p.Ala45Glu) c.127C>A | |
| 2 | g.32064124C>G | CA346602151 | SPAST | c.293C>G (p.Ala98Gly) c.177C>G c.163C>G c.35C>G (p.Ala12Gly) c.169C>G c.134C>G (p.Ala45Gly) c.127C>G | |
| 2 | g.32064124C>T | CA346602153 | SPAST | c.293C>T (p.Ala98Val) c.177C>T c.163C>T c.35C>T (p.Ala12Val) c.169C>T c.134C>T (p.Ala45Val) c.127C>T | ClinVar gnomAD v4 |
| 2 | g.32064125A= | CA1242461757 | SPAST | c.294A= (p.Ala98=) c.178A= c.164A= c.36A= (p.Ala12=) c.170A= c.135A= (p.Ala45=) c.128A= | |
| 2 | g.32064125A>C | CA1600540 | SPAST | c.294A>C (p.Ala98=) c.178A>C c.164A>C c.36A>C (p.Ala12=) c.170A>C c.135A>C (p.Ala45=) c.128A>C | dbSNP ExAC gnomAD v4 |
| 2 | g.32064125A>G | CA425628025 | SPAST | c.294A>G (p.Ala98=) c.178A>G c.164A>G c.36A>G (p.Ala12=) c.170A>G c.135A>G (p.Ala45=) c.128A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32064125A>T | CA425628024 | SPAST | c.294A>T (p.Ala98=) c.178A>T c.164A>T c.36A>T (p.Ala12=) c.170A>T c.135A>T (p.Ala45=) c.128A>T | |
| 2 | g.32064126C>A | CA346602154 | SPAST | c.295C>A (p.Pro99Thr) c.179C>A c.165C>A c.37C>A (p.Pro13Thr) c.171C>A c.136C>A (p.Pro46Thr) c.129C>A | gnomAD v4 |
| 2 | g.32064126C= | CA1242461758 | SPAST | c.295C= (p.Pro99=) c.179C= c.165C= c.37C= (p.Pro13=) c.171C= c.136C= (p.Pro46=) c.129C= | |
| 2 | g.32064126C>G | CA346602155 | SPAST | c.295C>G (p.Pro99Ala) c.179C>G c.165C>G c.37C>G (p.Pro13Ala) c.171C>G c.136C>G (p.Pro46Ala) c.129C>G | |
| 2 | g.32064126C>T | CA1600541 | SPAST | c.295C>T (p.Pro99Ser) c.179C>T c.165C>T c.37C>T (p.Pro13Ser) c.171C>T c.136C>T (p.Pro46Ser) c.129C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32064127C>A | CA346602157 | SPAST | c.296C>A (p.Pro99His) c.180C>A c.166C>A c.38C>A (p.Pro13His) c.172C>A c.137C>A (p.Pro46His) c.130C>A | |
| 2 | g.32064127C>G | CA346602159 | SPAST | c.296C>G (p.Pro99Arg) c.180C>G c.166C>G c.38C>G (p.Pro13Arg) c.172C>G c.137C>G (p.Pro46Arg) c.130C>G | |
| 2 | g.32064127C>T | CA346602162 | SPAST | c.296C>T (p.Pro99Leu) c.180C>T c.166C>T c.38C>T (p.Pro13Leu) c.172C>T c.137C>T (p.Pro46Leu) c.130C>T | ClinVar |
| 2 | g.32064128_32064133dup | CA1242461759 | SPAST | c.297_302dup (p.Ser101_Ala102insAlaSer) c.181_186dup c.167_172dup c.39_44dup (p.Ser15_Ala16insAlaSer) c.173_178dup c.138_143dup (p.Ser48_Ala49insAlaSer) c.131_136dup | dbSNP gnomAD v4 |
| 2 | g.32064128T>A | CA425628042 | SPAST | c.297T>A (p.Pro99=) c.181T>A c.167T>A c.39T>A (p.Pro13=) c.173T>A c.138T>A (p.Pro46=) c.131T>A | dbSNP |
| 2 | g.32064128T>C | CA425628043 | SPAST | c.297T>C (p.Pro99=) c.181T>C c.167T>C c.39T>C (p.Pro13=) c.173T>C c.138T>C (p.Pro46=) c.131T>C | |
| 2 | g.32064128T>G | CA425628045 | SPAST | c.297T>G (p.Pro99=) c.181T>G c.167T>G c.39T>G (p.Pro13=) c.173T>G c.138T>G (p.Pro46=) c.131T>G | dbSNP gnomAD v4 |
| 2 | g.32064128T= | CA1242461761 | SPAST | c.297T= (p.Pro99=) c.181T= c.167T= c.39T= (p.Pro13=) c.173T= c.138T= (p.Pro46=) c.131T= | |
| 2 | g.32064128_32064134delinsTGCCTCG | CA1242461760 | SPAST | c.297_303delinsTGCCTCG (p.Pro99=) c.181_187delinsTGCCTCG c.167_173delinsTGCCTCG c.39_45delinsTGCCTCG (p.Pro13=) c.173_179delinsTGCCTCG c.138_144delinsTGCCTCG (p.Pro46=) c.131_137delinsTGCCTCG | |
| 2 | g.32064129G>A | CA346602171 | SPAST | c.298G>A (p.Ala100Thr) c.182G>A c.168G>A c.40G>A (p.Ala14Thr) c.174G>A c.139G>A (p.Ala47Thr) c.132G>A | dbSNP |
| 2 | g.32064129G>C | CA346602177 | SPAST | c.298G>C (p.Ala100Pro) c.182G>C c.168G>C c.40G>C (p.Ala14Pro) c.174G>C c.139G>C (p.Ala47Pro) c.132G>C | |
| 2 | g.32064129G= | CA1242461762 | SPAST | c.298G= (p.Ala100=) c.182G= c.168G= c.40G= (p.Ala14=) c.174G= c.139G= (p.Ala47=) c.132G= | |
| 2 | g.32064129G>T | CA346602169 | SPAST | c.298G>T (p.Ala100Ser) c.182G>T c.168G>T c.40G>T (p.Ala14Ser) c.174G>T c.139G>T (p.Ala47Ser) c.132G>T | |
| 2 | g.32064129_32064131dup | CA2658519900 | SPAST | c.298_300dup (p.Ala100_Ser101insAla) c.182_184dup c.168_170dup c.40_42dup (p.Ala14_Ser15insAla) c.174_176dup c.139_141dup (p.Ala47_Ser48insAla) c.132_134dup | gnomAD v4 |
| 2 | g.32064138_32064143dup | CA1600543 | SPAST | c.307_312dup (p.Ala104_Pro105insSerAla) c.191_196dup c.177_182dup c.49_54dup (p.Ala18_Pro19insSerAla) c.183_188dup c.148_153dup (p.Ala51_Pro52insSerAla) c.141_146dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32064138_32064143del | CA1600542 | SPAST | c.307_312del (p.Ser103_Ala104del) c.191_196del c.177_182del c.49_54del (p.Ser17_Ala18del) c.183_188del c.148_153del (p.Ser50_Ala51del) c.141_146del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32064130C>A | CA346602180 | SPAST | c.299C>A (p.Ala100Asp) c.183C>A c.169C>A c.41C>A (p.Ala14Asp) c.175C>A c.140C>A (p.Ala47Asp) c.133C>A | |
| 2 | g.32064130C= | CA1242461763 | SPAST | c.299C= (p.Ala100=) c.183C= c.169C= c.41C= (p.Ala14=) c.175C= c.140C= (p.Ala47=) c.133C= | |
| 2 | g.32064130C>G | CA346602183 | SPAST | c.299C>G (p.Ala100Gly) c.183C>G c.169C>G c.41C>G (p.Ala14Gly) c.175C>G c.140C>G (p.Ala47Gly) c.133C>G | |
| 2 | g.32064130C>T | CA1600544 | SPAST | c.299C>T (p.Ala100Val) c.183C>T c.169C>T c.41C>T (p.Ala14Val) c.175C>T c.140C>T (p.Ala47Val) c.133C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.32064131del | CA2576929934 | SPAST | c.300del (p.Ser101ArgfsTer?) c.184del c.170del c.42del (p.Ser15ArgfsTer?) c.176del c.141del (p.Ser48ArgfsTer?) c.134del | gnomAD v4 |
| 2 | g.32064131C>A | CA425626842 | SPAST | c.300C>A (p.Ala100=) c.184C>A c.170C>A c.42C>A (p.Ala14=) c.176C>A c.141C>A (p.Ala47=) c.134C>A |