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.32063903_32063921dup | CA2499215888 | SPAST | c.72_90dup (p.Pro31SerfsTer23) | ClinVar dbSNP |
2 | g.32063903_32063921del | CA45201387 | SPAST | c.72_90del (p.Pro27LeufsTer27) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063910_32063957del | CA2658519895 | SPAST | c.79_126del (p.Pro27_Pro42del) | dbSNP gnomAD v4 |
2 | g.32063911_32063929dup | CA2586968930 | SPAST | c.80_98dup (p.Pro34LeufsTer20) | |
2 | g.32063919G>A | CA346601335 | SPAST | c.88G>A (p.Ala30Thr) | |
2 | g.32063919G>C | CA346601336 | SPAST | c.88G>C (p.Ala30Pro) | |
2 | g.32063919G= | CA1242461623 | SPAST | c.88G= (p.Ala30=) | |
2 | g.32063919G>T | CA346601337 | SPAST | c.88G>T (p.Ala30Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063921_32063922insAGCC | CA2586968933 | SPAST | c.90_91insAGCC (p.Pro31SerfsTer18) | |
2 | g.32063920C>A | CA346601338 | SPAST | c.89C>A (p.Ala30Asp) | gnomAD v4 |
2 | g.32063920C= | CA1242461624 | SPAST | c.89C= (p.Ala30=) | |
2 | g.32063920C>G | CA346601339 | SPAST | c.89C>G (p.Ala30Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063920C>T | CA1600478 | SPAST | c.89C>T (p.Ala30Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063924dup | CA1139656819 | SPAST | c.93dup (p.Ala32ArgfsTer16) | ClinVar dbSNP gnomAD v4 |
2 | g.32063924del | CA2576929931 | SPAST | c.93del (p.Ala32ProfsTer28) | gnomAD v4 |
2 | g.32063920_32063921insGGGG | CA2699033270 | SPAST | c.89_90insGGGG (p.Pro31GlyfsTer18) | dbSNP |
2 | g.32063921C>A | CA425627088 | SPAST | c.90C>A (p.Ala30=) | |
2 | g.32063921C= | CA1242461626 | SPAST | c.90C= (p.Ala30=) | |
2 | g.32063921C>G | CA425627090 | SPAST | c.90C>G (p.Ala30=) | dbSNP |
2 | g.32063921C>T | CA425627092 | SPAST | c.90C>T (p.Ala30=) | gnomAD v4 |
2 | g.32063921_32063930delinsCCCCGCCCCT | CA1242461625 | SPAST | c.90_99delinsCCCCGCCCCT (p.Ala30=) | |
2 | g.32063922C>A | CA346601341 | SPAST | c.91C>A (p.Pro31Thr) | |
2 | g.32063922C>G | CA346601342 | SPAST | c.91C>G (p.Pro31Ala) | |
2 | g.32063922C>T | CA346601340 | SPAST | c.91C>T (p.Pro31Ser) | gnomAD v4 |
2 | g.32063928_32063936del | CA1600479 | SPAST | c.97_105del (p.Pro33_Ala35del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063923C>A | CA346601345 | SPAST | c.92C>A (p.Pro31His) | gnomAD v4 |
2 | g.32063923C>G | CA346601343 | SPAST | c.92C>G (p.Pro31Arg) | |
2 | g.32063923C>T | CA346601344 | SPAST | c.92C>T (p.Pro31Leu) | gnomAD v4 |
2 | g.32063924C>A | CA1600480 | SPAST | c.93C>A (p.Pro31=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063924C= | CA1242461627 | SPAST | c.93C= (p.Pro31=) | |
2 | g.32063924C>G | CA425627104 | SPAST | c.93C>G (p.Pro31=) | |
2 | g.32063924C>T | CA425627106 | SPAST | c.93C>T (p.Pro31=) | gnomAD v4 |
2 | g.32063925G>A | CA346601346 | SPAST | c.94G>A (p.Ala32Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063925G>C | CA346601347 | SPAST | c.94G>C (p.Ala32Pro) | dbSNP gnomAD v4 |
2 | g.32063925G= | CA1242461628 | SPAST | c.94G= (p.Ala32=) | |
2 | g.32063925G>T | CA346601348 | SPAST | c.94G>T (p.Ala32Ser) | |
2 | g.32063933_32063953dup | CA531769477 | SPAST | c.102_122dup (p.Pro41_Pro42insAlaAlaGlyProAlaProPro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063926C>A | CA346601349 | SPAST | c.95C>A (p.Ala32Asp) | |
2 | g.32063926C>G | CA346601350 | SPAST | c.95C>G (p.Ala32Gly) | |
2 | g.32063926C>T | CA346601351 | SPAST | c.95C>T (p.Ala32Val) | gnomAD v4 |
2 | g.32063927C>A | CA425627118 | SPAST | c.96C>A (p.Ala32=) | |
2 | g.32063927C= | CA1242461629 | SPAST | c.96C= (p.Ala32=) | |
2 | g.32063927C>G | CA425627119 | SPAST | c.96C>G (p.Ala32=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063927C>T | CA1600481 | SPAST | c.96C>T (p.Ala32=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063928C>A | CA346601352 | SPAST | c.97C>A (p.Pro33Thr) | gnomAD v4 |
2 | g.32063928C= | CA1242461630 | SPAST | c.97C= (p.Pro33=) | |
2 | g.32063928C>G | CA346601353 | SPAST | c.97C>G (p.Pro33Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063928C>T | CA346601354 | SPAST | c.97C>T (p.Pro33Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.32063929C>A | CA346601356 | SPAST | c.98C>A (p.Pro33His) | |
2 | g.32063929C= | CA1242461631 | SPAST | c.98C= (p.Pro33=) | |
2 | g.32063929C>G | CA346601355 | SPAST | c.98C>G (p.Pro33Arg) | |
2 | g.32063929C>T | CA1600482 | SPAST | c.98C>T (p.Pro33Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063930T>A | CA425627129 | SPAST | c.99T>A (p.Pro33=) | ClinVar dbSNP gnomAD v4 |
2 | g.32063930T>C | CA425627130 | SPAST | c.99T>C (p.Pro33=) | dbSNP gnomAD v4 |
2 | g.32063930T>G | CA425627131 | SPAST | c.99T>G (p.Pro33=) | dbSNP |
2 | g.32063930T= | CA1242461632 | SPAST | c.99T= (p.Pro33=) | |
2 | g.32063931C>A | CA1600483 | SPAST | c.100C>A (p.Pro34Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063931C= | CA1242461633 | SPAST | c.100C= (p.Pro34=) | |
2 | g.32063931C>G | CA346601357 | SPAST | c.100C>G (p.Pro34Ala) | gnomAD v4 |
2 | g.32063931C>T | CA346601358 | SPAST | c.100C>T (p.Pro34Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063932C>A | CA346601359 | SPAST | c.101C>A (p.Pro34His) | |
2 | g.32063932C= | CA1242461634 | SPAST | c.101C= (p.Pro34=) | |
2 | g.32063932C>G | CA346601360 | SPAST | c.101C>G (p.Pro34Arg) | |
2 | g.32063932C>T | CA1600484 | SPAST | c.101C>T (p.Pro34Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063933C>A | CA425627140 | SPAST | c.102C>A (p.Pro34=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063933C= | CA1242461635 | SPAST | c.102C= (p.Pro34=) | |
2 | g.32063933C>G | CA425627138 | SPAST | c.102C>G (p.Pro34=) | dbSNP |
2 | g.32063933C>T | CA425627137 | SPAST | c.102C>T (p.Pro34=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063934G>A | CA346601361 | SPAST | c.103G>A (p.Ala35Thr) | gnomAD v4 |
2 | g.32063934G>C | CA346601362 | SPAST | c.103G>C (p.Ala35Pro) | dbSNP gnomAD v4 |
2 | g.32063934G= | CA1242461636 | SPAST | c.103G= (p.Ala35=) | |
2 | g.32063934G>T | CA1600485 | SPAST | c.103G>T (p.Ala35Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063935C>A | CA346601363 | SPAST | c.104C>A (p.Ala35Asp) | |
2 | g.32063935C>G | CA346601364 | SPAST | c.104C>G (p.Ala35Gly) | |
2 | g.32063935C>T | CA346601365 | SPAST | c.104C>T (p.Ala35Val) | gnomAD v4 |
2 | g.32063936C>A | CA1600486 | SPAST | c.105C>A (p.Ala35=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063936C= | CA1242461637 | SPAST | c.105C= (p.Ala35=) | |
2 | g.32063936C>G | CA425627149 | SPAST | c.105C>G (p.Ala35=) | |
2 | g.32063936C>T | CA425627150 | SPAST | c.105C>T (p.Ala35=) | gnomAD v4 |
2 | g.32063937G>A | CA346601367 | SPAST | c.106G>A (p.Ala36Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063937G>C | CA346601368 | SPAST | c.106G>C (p.Ala36Pro) | dbSNP gnomAD v4 |
2 | g.32063937G= | CA1242461638 | SPAST | c.106G= (p.Ala36=) | |
2 | g.32063937G>T | CA346601366 | SPAST | c.106G>T (p.Ala36Ser) | dbSNP |
2 | g.32063938C>A | CA346601369 | SPAST | c.107C>A (p.Ala36Asp) | |
2 | g.32063938C>G | CA346601370 | SPAST | c.107C>G (p.Ala36Gly) | |
2 | g.32063938C>T | CA346601371 | SPAST | c.107C>T (p.Ala36Val) | |
2 | g.32063941_32063954del | CA2586968934 | SPAST | c.110_123del (p.Gly37AlafsTer6) | |
2 | g.32063939C>A | CA425627157 | SPAST | c.108C>A (p.Ala36=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063939C= | CA1242461639 | SPAST | c.108C= (p.Ala36=) | |
2 | g.32063939C>G | CA425627158 | SPAST | c.108C>G (p.Ala36=) | gnomAD v4 |
2 | g.32063939C>T | CA425627159 | SPAST | c.108C>T (p.Ala36=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063940G>A | CA346601372 | SPAST | c.109G>A (p.Gly37Arg) | |
2 | g.32063940G>C | CA1600487 | SPAST | c.109G>C (p.Gly37Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063940G= | CA1242461640 | SPAST | c.109G= (p.Gly37=) | |
2 | g.32063940G>T | CA346601373 | SPAST | c.109G>T (p.Gly37Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063941G>A | CA346601374 | SPAST | c.110G>A (p.Gly37Glu) | gnomAD v4 |
2 | g.32063941G>C | CA346601375 | SPAST | c.110G>C (p.Gly37Ala) | |
2 | g.32063941G>T | CA346601376 | SPAST | c.110G>T (p.Gly37Val) | |
2 | g.32063942G>A | CA425627165 | SPAST | c.111G>A (p.Gly37=) | |
2 | g.32063942G>C | CA425627168 | SPAST | c.111G>C (p.Gly37=) | |
2 | g.32063942G>T | CA425627169 | SPAST | c.111G>T (p.Gly37=) | |
2 | g.32063943C>A | CA346601377 | SPAST | c.112C>A (p.Pro38Thr) | |
2 | g.32063943C= | CA1242461641 | SPAST | c.112C= (p.Pro38=) | |
2 | g.32063943C>G | CA346601378 | SPAST | c.112C>G (p.Pro38Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063943C>T | CA346601379 | SPAST | c.112C>T (p.Pro38Ser) | gnomAD v4 |
2 | g.32063944dup | CA2582342360 | SPAST | c.113dup (p.Ala39GlyfsTer9) | ClinVar |
2 | g.32063945_32063949dup | CA2576929932 | SPAST | c.114_118dup (p.Pro40ArgfsTer22) | |
2 | g.32063944C>A | CA346601381 | SPAST | c.113C>A (p.Pro38Gln) | |
2 | g.32063944C= | CA1242461642 | SPAST | c.113C= (p.Pro38=) | |
2 | g.32063944C>G | CA16610961 | SPAST | c.113C>G (p.Pro38Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063944C>T | CA346601380 | SPAST | c.113C>T (p.Pro38Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063945G>A | CA425627179 | SPAST | c.114G>A (p.Pro38=) | gnomAD v4 |
2 | g.32063945G>C | CA425627181 | SPAST | c.114G>C (p.Pro38=) | dbSNP gnomAD v4 |
2 | g.32063945G= | CA1242461643 | SPAST | c.114G= (p.Pro38=) | |
2 | g.32063945G>T | CA1600488 | SPAST | c.114G>T (p.Pro38=) | dbSNP ExAC gnomAD v2 |
2 | g.32063945_32063946insC | CA2586968935 | SPAST | c.114_115insC (p.Ala39ArgfsTer9) | |
2 | g.32063946G>A | CA346601382 | SPAST | c.115G>A (p.Ala39Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063946G>C | CA346601383 | SPAST | c.115G>C (p.Ala39Pro) | |
2 | g.32063946G= | CA1242461644 | SPAST | c.115G= (p.Ala39=) | |
2 | g.32063946G>T | CA346601384 | SPAST | c.115G>T (p.Ala39Ser) | |
2 | g.32063947C>A | CA346601385 | SPAST | c.116C>A (p.Ala39Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063947C= | CA1242461645 | SPAST | c.116C= (p.Ala39=) | |
2 | g.32063947C>G | CA346601386 | SPAST | c.116C>G (p.Ala39Gly) | |
2 | g.32063947C>T | CA346601387 | SPAST | c.116C>T (p.Ala39Val) | |
2 | g.32063948C>A | CA425627184 | SPAST | c.117C>A (p.Ala39=) c.1C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063948C= | CA1242461646 | SPAST | c.117C= (p.Ala39=) c.1C= | |
2 | g.32063948C>G | CA1600489 | SPAST | c.117C>G (p.Ala39=) c.1C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063948C>T | CA425627186 | SPAST | c.117C>T (p.Ala39=) c.1C>T | gnomAD v4 |
2 | g.32063949C>A | CA346601388 | SPAST | c.118C>A (p.Pro40Thr) c.2C>A | dbSNP |
2 | g.32063949C= | CA1242461647 | SPAST | c.118C= (p.Pro40=) c.2C= | |
2 | g.32063949C>G | CA346601389 | SPAST | c.118C>G (p.Pro40Ala) c.2C>G | |
2 | g.32063949C>T | CA1600490 | SPAST | c.118C>T (p.Pro40Ser) c.2C>T | dbSNP ExAC gnomAD v2 |
2 | g.32063950C>A | CA346601391 | SPAST | c.119C>A (p.Pro40His) c.3C>A | |
2 | g.32063950C= | CA1242461648 | SPAST | c.119C= (p.Pro40=) c.3C= | |
2 | g.32063950C>G | CA346601392 | SPAST | c.119C>G (p.Pro40Arg) c.3C>G | |
2 | g.32063950C>T | CA346601390 | SPAST | c.119C>T (p.Pro40Leu) c.3C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063951T>A | CA1600491 | SPAST | c.120T>A (p.Pro40=) c.4T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063951T>C | CA425627190 | SPAST | c.120T>C (p.Pro40=) c.4T>C | gnomAD v4 |
2 | g.32063951T>G | CA425627191 | SPAST | c.120T>G (p.Pro40=) c.4T>G | |
2 | g.32063951T= | CA1242461649 | SPAST | c.120T= (p.Pro40=) c.4T= | |
2 | g.32063951_32063952delinsAA | CA2740092819 | SPAST | c.120_121delinsAA (p.Pro41Thr) c.4_5delinsAA | ClinVar |
2 | g.32063952C>A | CA1600492 | SPAST | c.121C>A (p.Pro41Thr) c.5C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063952C= | CA1242461650 | SPAST | c.121C= (p.Pro41=) c.5C= | |
2 | g.32063952C>G | CA45201389 | SPAST | c.121C>G (p.Pro41Ala) c.5C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063952C>T | CA346601393 | SPAST | c.121C>T (p.Pro41Ser) c.5C>T | gnomAD v4 |
2 | g.32063953C>A | CA346601394 | SPAST | c.122C>A (p.Pro41Gln) c.6C>A | |
2 | g.32063953C= | CA1242461651 | SPAST | c.122C= (p.Pro41=) c.6C= | |
2 | g.32063953C>G | CA346601395 | SPAST | c.122C>G (p.Pro41Arg) c.6C>G | gnomAD v4 |
2 | g.32063953C>T | CA1600493 | SPAST | c.122C>T (p.Pro41Leu) c.6C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063954G>A | CA45201390 | SPAST | c.123G>A (p.Pro41=) c.7G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063954G>C | CA425627194 | SPAST | c.123G>C (p.Pro41=) c.7G>C | gnomAD v4 |
2 | g.32063954G= | CA1242461652 | SPAST | c.123G= (p.Pro41=) c.7G= | |
2 | g.32063954G>T | CA425627193 | SPAST | c.123G>T (p.Pro41=) c.7G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063955C>A | CA1600494 | SPAST | c.124C>A (p.Pro42Thr) c.8C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063955C= | CA1242461653 | SPAST | c.124C= (p.Pro42=) c.8C= | |
2 | g.32063955C>G | CA346601396 | SPAST | c.124C>G (p.Pro42Ala) c.8C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063955C>T | CA346601397 | SPAST | c.124C>T (p.Pro42Ser) c.8C>T | gnomAD v4 |
2 | g.32063956C>A | CA346601398 | SPAST | c.125C>A (p.Pro42His) c.9C>A c.1C>A | dbSNP gnomAD v2 |
2 | g.32063956C= | CA1242461654 | SPAST | c.125C= (p.Pro42=) c.9C= c.1C= | |
2 | g.32063956C>G | CA346601399 | SPAST | c.125C>G (p.Pro42Arg) c.9C>G c.1C>G | |
2 | g.32063956C>T | CA346601400 | SPAST | c.125C>T (p.Pro42Leu) c.9C>T c.1C>T | gnomAD v4 |
2 | g.32063957C>A | CA425627201 | SPAST | c.126C>A (p.Pro42=) c.10C>A c.2C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063957C= | CA1242461655 | SPAST | c.126C= (p.Pro42=) c.10C= c.2C= | |
2 | g.32063957C>G | CA1600495 | SPAST | c.126C>G (p.Pro42=) c.10C>G c.2C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063957C>T | CA1600496 | SPAST | c.126C>T (p.Pro42=) c.10C>T c.2C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063958G>A | CA346601401 | SPAST | c.127G>A (p.Glu43Lys) c.11G>A c.3G>A | |
2 | g.32063958G>C | CA1600497 | SPAST | c.127G>C (p.Glu43Gln) c.11G>C c.3G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063958G= | CA1242461656 | SPAST | c.127G= (p.Glu43=) c.11G= c.3G= | |
2 | g.32063958G>T | CA16610962 | SPAST | c.127G>T (p.Glu43Ter) c.11G>T c.3G>T | ClinVar dbSNP |
2 | g.32063959A= | CA1242461657 | SPAST | c.128A= (p.Glu43=) c.12A= c.4A= | |
2 | g.32063959A>C | CA346601402 | SPAST | c.128A>C (p.Glu43Ala) c.12A>C c.4A>C | gnomAD v4 |
2 | g.32063959A>G | CA346601403 | SPAST | c.128A>G (p.Glu43Gly) c.12A>G c.4A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063959A>T | CA346601404 | SPAST | c.128A>T (p.Glu43Val) c.12A>T c.4A>T | gnomAD v4 |
2 | g.32063960G>A | CA425627210 | SPAST | c.129G>A (p.Glu43=) c.13G>A c.5G>A | ClinVar COSMIC |
2 | g.32063960G>C | CA1600498 | SPAST | c.129G>C (p.Glu43Asp) c.13G>C c.5G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063960G= | CA1242461658 | SPAST | c.129G= (p.Glu43=) c.13G= c.5G= | |
2 | g.32063960G>T | CA346601405 | SPAST | c.129G>T (p.Glu43Asp) c.13G>T c.5G>T | |
2 | g.32063961T>A | CA346601406 | SPAST | c.130T>A (p.Ser44Thr) c.14T>A c.6T>A | |
2 | g.32063961T>C | CA346601407 | SPAST | c.130T>C (p.Ser44Pro) c.14T>C c.6T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063961T>G | CA346601408 | SPAST | c.130T>G (p.Ser44Ala) c.14T>G c.6T>G | |
2 | g.32063961T= | CA1242461659 | SPAST | c.130T= (p.Ser44=) c.14T= c.6T= | |
2 | g.32063962C>A | CA346601409 | SPAST | c.131C>A (p.Ser44Ter) c.15C>A c.1C>A c.7C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063962C= | CA1242461660 | SPAST | c.131C= (p.Ser44=) c.15C= c.1C= c.7C= | |
2 | g.32063962C>G | CA346601410 | SPAST | c.131C>G (p.Ser44Trp) c.15C>G c.1C>G c.7C>G | |
2 | g.32063962C>T | CA117669 | SPAST | c.131C>T (p.Ser44Leu) c.15C>T c.1C>T c.7C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063963G>A | CA425627217 | SPAST | c.132G>A (p.Ser44=) c.16G>A c.2G>A c.8G>A | |
2 | g.32063963G>C | CA425627218 | SPAST | c.132G>C (p.Ser44=) c.16G>C c.2G>C c.8G>C | |
2 | g.32063963G= | CA1242461661 | SPAST | c.132G= (p.Ser44=) c.16G= c.2G= c.8G= | |
2 | g.32063963G>T | CA425627220 | SPAST | c.132G>T (p.Ser44=) c.16G>T c.2G>T c.8G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063964C>A | CA346601415 | SPAST | c.133C>A (p.Pro45Thr) c.17C>A c.3C>A c.9C>A | |
2 | g.32063964C= | CA1242461662 | SPAST | c.133C= (p.Pro45=) c.17C= c.3C= c.9C= | |
2 | g.32063964C>G | CA346601414 | SPAST | c.133C>G (p.Pro45Ala) c.17C>G c.3C>G c.9C>G | |
2 | g.32063964C>T | CA346601412 | SPAST | c.133C>T (p.Pro45Ser) c.17C>T c.3C>T c.9C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063965C>A | CA117671 | SPAST | c.134C>A (p.Pro45Gln) c.18C>A c.4C>A c.10C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063965C= | CA1242461663 | SPAST | c.134C= (p.Pro45=) c.18C= c.4C= c.10C= | |
2 | g.32063965C>G | CA346601417 | SPAST | c.134C>G (p.Pro45Arg) c.18C>G c.4C>G c.10C>G | |
2 | g.32063965C>T | CA346601419 | SPAST | c.134C>T (p.Pro45Leu) c.18C>T c.4C>T c.10C>T | |
2 | g.32063966G>A | CA1600499 | SPAST | c.135G>A (p.Pro45=) c.19G>A c.5G>A c.11G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.32063966G>C | CA425627222 | SPAST | c.135G>C (p.Pro45=) c.19G>C c.5G>C c.11G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063966G= | CA1242461664 | SPAST | c.135G= (p.Pro45=) c.19G= c.5G= c.11G= | |
2 | g.32063966G>T | CA425627224 | SPAST | c.135G>T (p.Pro45=) c.19G>T c.5G>T c.11G>T | |
2 | g.32063967C>A | CA346601422 | SPAST | c.136C>A (p.His46Asn) c.20C>A c.6C>A c.12C>A | |
2 | g.32063967C>G | CA346601423 | SPAST | c.136C>G (p.His46Asp) c.20C>G c.6C>G c.12C>G | |
2 | g.32063967C>T | CA346601426 | SPAST | c.136C>T (p.His46Tyr) c.20C>T c.6C>T c.12C>T | |
2 | g.32063968A= | CA1242461665 | SPAST | c.137A= (p.His46=) c.21A= c.7A= c.-122A= (n.-122A=) c.13A= | |
2 | g.32063968A>C | CA346601429 | SPAST | c.137A>C (p.His46Pro) c.21A>C c.7A>C c.-122A>C (n.-122A>C) c.13A>C | gnomAD v4 COSMIC |
2 | g.32063968A>G | CA1600500 | SPAST | c.137A>G (p.His46Arg) c.21A>G c.7A>G c.-122A>G (n.-122A>G) c.13A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063968A>T | CA346601428 | SPAST | c.137A>T (p.His46Leu) c.21A>T c.7A>T c.-122A>T (n.-122A>T) c.13A>T | |
2 | g.32063969T>A | CA45201391 | SPAST | c.138T>A (p.His46Gln) c.22T>A c.8T>A c.-121T>A (n.-121T>A) c.14T>A | dbSNP |
2 | g.32063969T>C | CA425627231 | SPAST | c.138T>C (p.His46=) c.22T>C c.8T>C c.-121T>C (n.-121T>C) c.14T>C | dbSNP |
2 | g.32063969T>G | CA346601432 | SPAST | c.138T>G (p.His46Gln) c.22T>G c.8T>G c.-121T>G (n.-121T>G) c.14T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063969T= | CA1242461666 | SPAST | c.138T= (p.His46=) c.22T= c.8T= c.-121T= (n.-121T=) c.14T= | |
2 | g.32063970A= | CA1242461667 | SPAST | c.139A= (p.Lys47=) c.23A= c.9A= c.-120A= (n.-120A=) c.15A= | |
2 | g.32063970A>C | CA346601434 | SPAST | c.139A>C (p.Lys47Gln) c.23A>C c.9A>C c.-120A>C (n.-120A>C) c.15A>C | gnomAD v4 |
2 | g.32063970A>G | CA346601436 | SPAST | c.139A>G (p.Lys47Glu) c.23A>G c.9A>G c.-120A>G (n.-120A>G) c.15A>G | gnomAD v4 |
2 | g.32063970A>T | CA346601438 | SPAST | c.139A>T (p.Lys47Ter) c.23A>T c.9A>T c.-120A>T (n.-120A>T) c.15A>T | ClinVar dbSNP |
2 | g.32063971A= | CA1242461668 | SPAST | c.140A= (p.Lys47=) c.24A= c.10A= c.-119A= (n.-119A=) c.16A= | |
2 | g.32063971A>C | CA346601439 | SPAST | c.140A>C (p.Lys47Thr) c.24A>C c.10A>C c.-119A>C (n.-119A>C) c.16A>C | gnomAD v4 |
2 | g.32063971A>G | CA346601443 | SPAST | c.140A>G (p.Lys47Arg) c.24A>G c.10A>G c.-119A>G (n.-119A>G) c.16A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063971A>T | CA346601441 | SPAST | c.140A>T (p.Lys47Met) c.24A>T c.10A>T c.-119A>T (n.-119A>T) c.16A>T | |
2 | g.32063972G>A | CA1600501 | SPAST | c.141G>A (p.Lys47=) c.25G>A c.11G>A c.-118G>A (n.-118G>A) c.17G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063972G>C | CA346601445 | SPAST | c.141G>C (p.Lys47Asn) c.25G>C c.11G>C c.-118G>C (n.-118G>C) c.17G>C | |
2 | g.32063972G= | CA1242461669 | SPAST | c.141G= (p.Lys47=) c.25G= c.11G= c.-118G= (n.-118G=) c.17G= | |
2 | g.32063972G>T | CA346601447 | SPAST | c.141G>T (p.Lys47Asn) c.25G>T c.11G>T c.-118G>T (n.-118G>T) c.17G>T | |
2 | g.32063973C>A | CA425627239 | SPAST | c.142C>A (p.Arg48=) c.26C>A c.12C>A c.-117C>A (n.-117C>A) c.18C>A | gnomAD v4 |
2 | g.32063973C= | CA1242461670 | SPAST | c.142C= (p.Arg48=) c.26C= c.12C= c.-117C= (n.-117C=) c.18C= | |
2 | g.32063973C>G | CA346601448 | SPAST | c.142C>G (p.Arg48Gly) c.26C>G c.12C>G c.-117C>G (n.-117C>G) c.18C>G | gnomAD v4 |
2 | g.32063973C>T | CA346601449 | SPAST | c.142C>T (p.Arg48Trp) c.26C>T c.12C>T c.-117C>T (n.-117C>T) c.18C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063974G>A | CA1600503 | SPAST | c.143G>A (p.Arg48Gln) c.27G>A c.13G>A c.-116G>A (n.-116G>A) c.19G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063974G>C | CA346601452 | SPAST | c.143G>C (p.Arg48Pro) c.27G>C c.13G>C c.-116G>C (n.-116G>C) c.19G>C | |
2 | g.32063974G= | CA1242461671 | SPAST | c.143G= (p.Arg48=) c.27G= c.13G= c.-116G= (n.-116G=) c.19G= | |
2 | g.32063974G>T | CA1600502 | SPAST | c.143G>T (p.Arg48Leu) c.27G>T c.13G>T c.-116G>T (n.-116G>T) c.19G>T | dbSNP ExAC |
2 | g.32063975G>A | CA425627250 | SPAST | c.144G>A (p.Arg48=) c.28G>A c.14G>A c.-115G>A (n.-115G>A) c.20G>A | gnomAD v4 |
2 | g.32063975G>C | CA425627248 | SPAST | c.144G>C (p.Arg48=) c.28G>C c.14G>C c.-115G>C (n.-115G>C) c.20G>C | |
2 | g.32063975G>T | CA425627247 | SPAST | c.144G>T (p.Arg48=) c.28G>T c.14G>T c.-115G>T (n.-115G>T) c.20G>T | |
2 | g.32063976A>C | CA346601454 | SPAST | c.145A>C (p.Asn49His) c.29A>C c.15A>C c.-114A>C (n.-114A>C) c.21A>C | |
2 | g.32063976A>G | CA346601455 | SPAST | c.145A>G (p.Asn49Asp) c.29A>G c.15A>G c.-114A>G (n.-114A>G) c.21A>G | |
2 | g.32063976A>T | CA346601457 | SPAST | c.145A>T (p.Asn49Tyr) c.29A>T c.15A>T c.-114A>T (n.-114A>T) c.21A>T | |
2 | g.32063977A>C | CA346601462 | SPAST | c.146A>C (p.Asn49Thr) c.30A>C c.16A>C c.-113A>C (n.-113A>C) c.22A>C | |
2 | g.32063977A>G | CA346601460 | SPAST | c.146A>G (p.Asn49Ser) c.30A>G c.16A>G c.-113A>G (n.-113A>G) c.22A>G | |
2 | g.32063977A>T | CA346601459 | SPAST | c.146A>T (p.Asn49Ile) c.30A>T c.16A>T c.-113A>T (n.-113A>T) c.22A>T | |
2 | g.32063978C>A | CA346601464 | SPAST | c.147C>A (p.Asn49Lys) c.31C>A c.17C>A c.-112C>A (n.-112C>A) c.23C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063978C= | CA1242461672 | SPAST | c.147C= (p.Asn49=) c.31C= c.17C= c.-112C= (n.-112C=) c.23C= | |
2 | g.32063978C>G | CA346601466 | SPAST | c.147C>G (p.Asn49Lys) c.31C>G c.17C>G c.-112C>G (n.-112C>G) c.23C>G | |
2 | g.32063978C>T | CA425627258 | SPAST | c.147C>T (p.Asn49=) c.31C>T c.17C>T c.-112C>T (n.-112C>T) c.23C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063979C>A | CA346601467 | SPAST | c.148C>A (p.Leu50Met) c.32C>A c.18C>A c.-111C>A (n.-111C>A) c.24C>A | |
2 | g.32063979C= | CA1242461673 | SPAST | c.148C= (p.Leu50=) c.32C= c.18C= c.-111C= (n.-111C=) c.24C= | |
2 | g.32063979C>G | CA346601469 | SPAST | c.148C>G (p.Leu50Val) c.32C>G c.18C>G c.-111C>G (n.-111C>G) c.24C>G | |
2 | g.32063979C>T | CA1600504 | SPAST | c.148C>T (p.Leu50=) c.32C>T c.18C>T c.-111C>T (n.-111C>T) c.24C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063980T>A | CA346601472 | SPAST | c.149T>A (p.Leu50Gln) c.33T>A c.19T>A c.-110T>A (n.-110T>A) c.25T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063980T>C | CA346601474 | SPAST | c.149T>C (p.Leu50Pro) c.33T>C c.19T>C c.-110T>C (n.-110T>C) c.25T>C | ClinVar |
2 | g.32063980T>G | CA346601476 | SPAST | c.149T>G (p.Leu50Arg) c.33T>G c.19T>G c.-110T>G (n.-110T>G) c.25T>G | dbSNP |
2 | g.32063980T= | CA1242461674 | SPAST | c.149T= (p.Leu50=) c.33T= c.19T= c.-110T= (n.-110T=) c.25T= | |
2 | g.32063981G>A | CA425627273 | SPAST | c.150G>A (p.Leu50=) c.34G>A c.20G>A c.-109G>A (n.-109G>A) c.26G>A | gnomAD v4 |
2 | g.32063981G>C | CA425627276 | SPAST | c.150G>C (p.Leu50=) c.34G>C c.20G>C c.-109G>C (n.-109G>C) c.26G>C | |
2 | g.32063981G>T | CA425627274 | SPAST | c.150G>T (p.Leu50=) c.34G>T c.20G>T c.-109G>T (n.-109G>T) c.26G>T | |
2 | g.32063982T>A | CA346601481 | SPAST | c.151T>A (p.Tyr51Asn) c.35T>A c.21T>A c.-108T>A (n.-108T>A) c.27T>A | |
2 | g.32063982T>C | CA346601477 | SPAST | c.151T>C (p.Tyr51His) c.35T>C c.21T>C c.-108T>C (n.-108T>C) c.27T>C | |
2 | g.32063982T>G | CA346601479 | SPAST | c.151T>G (p.Tyr51Asp) c.35T>G c.21T>G c.-108T>G (n.-108T>G) c.27T>G | |
2 | g.32063983A= | CA1242461675 | SPAST | c.152A= (p.Tyr51=) c.36A= c.22A= c.-107A= (n.-107A=) c.28A= | |
2 | g.32063983A>C | CA346601483 | SPAST | c.152A>C (p.Tyr51Ser) c.36A>C c.22A>C c.-107A>C (n.-107A>C) c.28A>C | |
2 | g.32063983A>G | CA346601485 | SPAST | c.152A>G (p.Tyr51Cys) c.36A>G c.22A>G c.-107A>G (n.-107A>G) c.28A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063983A>T | CA346601487 | SPAST | c.152A>T (p.Tyr51Phe) c.36A>T c.22A>T c.-107A>T (n.-107A>T) c.28A>T | |
2 | g.32063984C>A | CA346601488 | SPAST | c.153C>A (p.Tyr51Ter) c.37C>A c.23C>A c.-106C>A (n.-106C>A) c.29C>A | |
2 | g.32063984C= | CA1242461676 | SPAST | c.153C= (p.Tyr51=) c.37C= c.23C= c.-106C= (n.-106C=) c.29C= | |
2 | g.32063984C>G | CA346601490 | SPAST | c.153C>G (p.Tyr51Ter) c.37C>G c.23C>G c.-106C>G (n.-106C>G) c.29C>G | ClinVar dbSNP gnomAD v4 |
2 | g.32063984C>T | CA425627294 | SPAST | c.153C>T (p.Tyr51=) c.37C>T c.23C>T c.-106C>T (n.-106C>T) c.29C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063985T>A | CA346601492 | SPAST | c.154T>A (p.Tyr52Asn) c.38T>A c.24T>A c.-105T>A (n.-105T>A) c.30T>A | |
2 | g.32063985T>C | CA346601495 | SPAST | c.154T>C (p.Tyr52His) c.38T>C c.24T>C c.-105T>C (n.-105T>C) c.30T>C | gnomAD v4 |
2 | g.32063985T>G | CA346601493 | SPAST | c.154T>G (p.Tyr52Asp) c.38T>G c.24T>G c.-105T>G (n.-105T>G) c.30T>G | |
2 | g.32063986_32063987dup | CA2586968936 | SPAST | c.155_156dup (p.Phe53IlefsTer8) c.39_40dup c.25_26dup c.-104_-103dup (n.-104_-103dup) c.31_32dup | |
2 | g.32063986A= | CA1242461677 | SPAST | c.155A= (p.Tyr52=) c.39A= c.25A= c.-104A= (n.-104A=) c.31A= | |
2 | g.32063986A>C | CA346601496 | SPAST | c.155A>C (p.Tyr52Ser) c.39A>C c.25A>C c.-104A>C (n.-104A>C) c.31A>C | |
2 | g.32063986A>G | CA1600505 | SPAST | c.155A>G (p.Tyr52Cys) c.39A>G c.25A>G c.-104A>G (n.-104A>G) c.31A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063986A>T | CA346601499 | SPAST | c.155A>T (p.Tyr52Phe) c.39A>T c.25A>T c.-104A>T (n.-104A>T) c.31A>T | |
2 | g.32063987T>A | CA346601501 | SPAST | c.156T>A (p.Tyr52Ter) c.40T>A c.26T>A c.-103T>A (n.-103T>A) c.32T>A | ClinVar dbSNP |
2 | g.32063987T>C | CA425627308 | SPAST | c.156T>C (p.Tyr52=) c.40T>C c.26T>C c.-103T>C (n.-103T>C) c.32T>C | |
2 | g.32063987T>G | CA346601502 | SPAST | c.156T>G (p.Tyr52Ter) c.40T>G c.26T>G c.-103T>G (n.-103T>G) c.32T>G | ClinVar dbSNP |
2 | g.32063987T= | CA1242461678 | SPAST | c.156T= (p.Tyr52=) c.40T= c.26T= c.-103T= (n.-103T=) c.32T= | |
2 | g.32063988T>A | CA346601505 | SPAST | c.157T>A (p.Phe53Ile) c.41T>A c.27T>A c.-102T>A (n.-102T>A) c.33T>A | gnomAD v4 |
2 | g.32063988T>C | CA346601506 | SPAST | c.157T>C (p.Phe53Leu) c.41T>C c.27T>C c.-102T>C (n.-102T>C) c.33T>C | ClinVar dbSNP |
2 | g.32063988T>G | CA1600506 | SPAST | c.157T>G (p.Phe53Val) c.41T>G c.27T>G c.-102T>G (n.-102T>G) c.33T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063988T= | CA1242461679 | SPAST | c.157T= (p.Phe53=) c.41T= c.27T= c.-102T= (n.-102T=) c.33T= | |
2 | g.32063989T>A | CA346601509 | SPAST | c.158T>A (p.Phe53Tyr) c.42T>A c.28T>A c.-101T>A (n.-101T>A) c.34T>A | |
2 | g.32063989T>C | CA346601511 | SPAST | c.158T>C (p.Phe53Ser) c.42T>C c.28T>C c.-101T>C (n.-101T>C) c.34T>C | |
2 | g.32063989T>G | CA346601512 | SPAST | c.158T>G (p.Phe53Cys) c.42T>G c.28T>G c.-101T>G (n.-101T>G) c.34T>G | |
2 | g.32063990C>A | CA346601516 | SPAST | c.159C>A (p.Phe53Leu) c.43C>A c.29C>A c.-100C>A (n.-100C>A) c.35C>A | |
2 | g.32063990C= | CA1242461680 | SPAST | c.159C= (p.Phe53=) c.43C= c.29C= c.-100C= (n.-100C=) c.35C= | |
2 | g.32063990C>G | CA346601515 | SPAST | c.159C>G (p.Phe53Leu) c.43C>G c.29C>G c.-100C>G (n.-100C>G) c.35C>G | dbSNP |
2 | g.32063990C>T | CA1600507 | SPAST | c.159C>T (p.Phe53=) c.43C>T c.29C>T c.-100C>T (n.-100C>T) c.35C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063991T>A | CA346601520 | SPAST | c.160T>A (p.Ser54Thr) c.44T>A c.30T>A c.-99T>A (n.-99T>A) c.36T>A c.1T>A (p.Ser1Thr) | |
2 | g.32063991T>C | CA346601518 | SPAST | c.160T>C (p.Ser54Pro) c.44T>C c.30T>C c.-99T>C (n.-99T>C) c.36T>C c.1T>C (p.Ser1Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063991T>G | CA1600508 | SPAST | c.160T>G (p.Ser54Ala) c.44T>G c.30T>G c.-99T>G (n.-99T>G) c.36T>G c.1T>G (p.Ser1Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063991T= | CA1242461681 | SPAST | c.160T= (p.Ser54=) c.44T= c.30T= c.-99T= (n.-99T=) c.36T= c.1T= (p.Ser1=) | |
2 | g.32063992C>A | CA346601522 | SPAST | c.161C>A (p.Ser54Tyr) c.45C>A c.31C>A c.-98C>A (n.-98C>A) c.37C>A c.2C>A (p.Ser1Tyr) | |
2 | g.32063992C= | CA1242461682 | SPAST | c.161C= (p.Ser54=) c.45C= c.31C= c.-98C= (n.-98C=) c.37C= c.2C= (p.Ser1=) | |
2 | g.32063992C>G | CA1600509 | SPAST | c.161C>G (p.Ser54Cys) c.45C>G c.31C>G c.-98C>G (n.-98C>G) c.37C>G c.2C>G (p.Ser1Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063992C>T | CA346601524 | SPAST | c.161C>T (p.Ser54Phe) c.45C>T c.31C>T c.-98C>T (n.-98C>T) c.37C>T c.2C>T (p.Ser1Phe) | |
2 | g.32063993C>A | CA425627332 | SPAST | c.162C>A (p.Ser54=) c.46C>A c.32C>A c.-97C>A (n.-97C>A) c.38C>A c.3C>A (p.Ser1=) | |
2 | g.32063993C= | CA1242461683 | SPAST | c.162C= (p.Ser54=) c.46C= c.32C= c.-97C= (n.-97C=) c.38C= c.3C= (p.Ser1=) | |
2 | g.32063993C>G | CA45201392 | SPAST | c.162C>G (p.Ser54=) c.46C>G c.32C>G c.-97C>G (n.-97C>G) c.38C>G c.3C>G (p.Ser1=) | dbSNP |
2 | g.32063993C>T | CA1600510 | SPAST | c.162C>T (p.Ser54=) c.46C>T c.32C>T c.-97C>T (n.-97C>T) c.38C>T c.3C>T (p.Ser1=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063995_32064012dup | CA2658519897 | SPAST | c.164_181dup (p.Gly60_Phe61insTyrProLeuPheValGly) c.48_65dup c.34_51dup c.-95_-78dup (n.-95_-78dup) c.40_57dup c.5_22dup (p.Gly7_Phe8insTyrProLeuPheValGly) | gnomAD v4 |
2 | g.32063994T>A | CA346601529 | SPAST | c.163T>A (p.Tyr55Asn) c.47T>A c.33T>A c.-96T>A (n.-96T>A) c.39T>A c.4T>A (p.Tyr2Asn) | |
2 | g.32063994T>C | CA346601528 | SPAST | c.163T>C (p.Tyr55His) c.47T>C c.33T>C c.-96T>C (n.-96T>C) c.39T>C c.4T>C (p.Tyr2His) | gnomAD v4 |
2 | g.32063994T>G | CA346601527 | SPAST | c.163T>G (p.Tyr55Asp) c.47T>G c.33T>G c.-96T>G (n.-96T>G) c.39T>G c.4T>G (p.Tyr2Asp) | gnomAD v4 |
2 | g.32063995del | CA2586968937 | SPAST | c.164del (p.Tyr55SerfsTer5) c.48del c.34del c.-95del (n.-95del) c.40del c.5del (p.Tyr2SerfsTer5) | |
2 | g.32063995A>C | CA346601531 | SPAST | c.164A>C (p.Tyr55Ser) c.48A>C c.34A>C c.-95A>C (n.-95A>C) c.40A>C c.5A>C (p.Tyr2Ser) | ClinVar gnomAD v4 |
2 | g.32063995A>G | CA346601533 | SPAST | c.164A>G (p.Tyr55Cys) c.48A>G c.34A>G c.-95A>G (n.-95A>G) c.40A>G c.5A>G (p.Tyr2Cys) | gnomAD v4 COSMIC |
2 | g.32063995A>T | CA346601537 | SPAST | c.164A>T (p.Tyr55Phe) c.48A>T c.34A>T c.-95A>T (n.-95A>T) c.40A>T c.5A>T (p.Tyr2Phe) | |
2 | g.32063996C>A | CA346601539 | SPAST | c.165C>A (p.Tyr55Ter) c.49C>A c.35C>A c.-94C>A (n.-94C>A) c.41C>A c.6C>A (p.Tyr2Ter) | ClinVar dbSNP |
2 | g.32063996C= | CA1242461685 | SPAST | c.165C= (p.Tyr55=) c.49C= c.35C= c.-94C= (n.-94C=) c.41C= c.6C= (p.Tyr2=) | |
2 | g.32063996C>G | CA346601541 | SPAST | c.165C>G (p.Tyr55Ter) c.49C>G c.35C>G c.-94C>G (n.-94C>G) c.41C>G c.6C>G (p.Tyr2Ter) | ClinVar |
2 | g.32063996C>T | CA1600511 | SPAST | c.165C>T (p.Tyr55=) c.49C>T c.35C>T c.-94C>T (n.-94C>T) c.41C>T c.6C>T (p.Tyr2=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063998dup | CA2580066379 | SPAST | c.167dup (p.Leu57AlafsTer?) c.51dup c.37dup c.-92dup (n.-92dup) c.43dup c.8dup (p.Leu4AlafsTer?) | ClinVar |
2 | g.32063998del | CA2586968938 | SPAST | c.167del (p.Pro56ArgfsTer4) c.51del c.37del c.-92del (n.-92del) c.43del c.8del (p.Pro3ArgfsTer4) | gnomAD v4 |
2 | g.32063996_32064006delinsCCCGCTGTTTG | CA1242461684 | SPAST | c.165_175delinsCCCGCTGTTTG (p.Tyr55=) c.49_59delinsCCCGCTGTTTG c.35_45delinsCCCGCTGTTTG c.-94_-84delinsCCCGCTGTTTG (n.-94_-84delinsCCCGCTGTTTG) c.41_51delinsCCCGCTGTTTG c.6_16delinsCCCGCTGTTTG (p.Tyr2=) | |
2 | g.32063997C>A | CA346601544 | SPAST | c.166C>A (p.Pro56Thr) c.50C>A c.36C>A c.-93C>A (n.-93C>A) c.42C>A c.7C>A (p.Pro3Thr) | |
2 | g.32063997C>G | CA346601548 | SPAST | c.166C>G (p.Pro56Ala) c.50C>G c.36C>G c.-93C>G (n.-93C>G) c.42C>G c.7C>G (p.Pro3Ala) | gnomAD v4 |
2 | g.32063997C>T | CA346601546 | SPAST | c.166C>T (p.Pro56Ser) c.50C>T c.36C>T c.-93C>T (n.-93C>T) c.42C>T c.7C>T (p.Pro3Ser) | gnomAD v4 |
2 | g.32063997_32064005del | CA2576929933 | SPAST | c.166_174del (p.Pro56_Phe58del) c.50_58del c.36_44del c.-93_-85del (n.-93_-85del) c.42_50del c.7_15del (p.Pro3_Phe5del) | gnomAD v4 |
2 | g.32063997_32064006del | CA658795705 | SPAST | c.166_175del (p.Pro56Ter) c.50_59del c.36_45del c.-93_-84del (n.-93_-84del) c.42_51del c.7_16del (p.Pro3Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.32063998C>A | CA346601550 | SPAST | c.167C>A (p.Pro56Gln) c.51C>A c.37C>A c.-92C>A (n.-92C>A) c.43C>A c.8C>A (p.Pro3Gln) c.1C>A | ClinVar dbSNP gnomAD v4 |
2 | g.32063998C= | CA1242461686 | SPAST | c.167C= (p.Pro56=) c.51C= c.37C= c.-92C= (n.-92C=) c.43C= c.8C= (p.Pro3=) c.1C= | |
2 | g.32063998C>G | CA346601551 | SPAST | c.167C>G (p.Pro56Arg) c.51C>G c.37C>G c.-92C>G (n.-92C>G) c.43C>G c.8C>G (p.Pro3Arg) c.1C>G | ClinVar |
2 | g.32063998C>T | CA346601553 | SPAST | c.167C>T (p.Pro56Leu) c.51C>T c.37C>T c.-92C>T (n.-92C>T) c.43C>T c.8C>T (p.Pro3Leu) c.1C>T | ClinVar dbSNP gnomAD v4 |
2 | g.32063999G>A | CA1600512 | SPAST | c.168G>A (p.Pro56=) c.52G>A c.38G>A c.-91G>A (n.-91G>A) c.44G>A c.9G>A (p.Pro3=) c.2G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063999G>C | CA425627373 | SPAST | c.168G>C (p.Pro56=) c.52G>C c.38G>C c.-91G>C (n.-91G>C) c.44G>C c.9G>C (p.Pro3=) c.2G>C | |
2 | g.32063999G= | CA1242461687 | SPAST | c.168G= (p.Pro56=) c.52G= c.38G= c.-91G= (n.-91G=) c.44G= c.9G= (p.Pro3=) c.2G= | |
2 | g.32063999G>T | CA425627375 | SPAST | c.168G>T (p.Pro56=) c.52G>T c.38G>T c.-91G>T (n.-91G>T) c.44G>T c.9G>T (p.Pro3=) c.2G>T | gnomAD v4 |
2 | g.32064000C>A | CA346601555 | SPAST | c.169C>A (p.Leu57Met) c.53C>A c.39C>A c.-90C>A (n.-90C>A) c.45C>A c.10C>A (p.Leu4Met) c.3C>A | |
2 | g.32064000C>G | CA346601557 | SPAST | c.169C>G (p.Leu57Val) c.53C>G c.39C>G c.-90C>G (n.-90C>G) c.45C>G c.10C>G (p.Leu4Val) c.3C>G | |
2 | g.32064000C>T | CA425627378 | SPAST | c.169C>T (p.Leu57=) c.53C>T c.39C>T c.-90C>T (n.-90C>T) c.45C>T c.10C>T (p.Leu4=) c.3C>T | |
2 | g.32064001T>A | CA346601559 | SPAST | c.170T>A (p.Leu57Gln) c.54T>A c.40T>A c.-89T>A (n.-89T>A) c.46T>A c.11T>A (p.Leu4Gln) c.4T>A | |
2 | g.32064001T>C | CA346601561 | SPAST | c.170T>C (p.Leu57Pro) c.54T>C c.40T>C c.-89T>C (n.-89T>C) c.46T>C c.11T>C (p.Leu4Pro) c.4T>C | |
2 | g.32064001T>G | CA346601563 | SPAST | c.170T>G (p.Leu57Arg) c.54T>G c.40T>G c.-89T>G (n.-89T>G) c.46T>G c.11T>G (p.Leu4Arg) c.4T>G | |
2 | g.32064002G>A | CA425627384 | SPAST | c.171G>A (p.Leu57=) c.55G>A c.41G>A c.-88G>A (n.-88G>A) c.47G>A c.12G>A (p.Leu4=) c.5G>A | |
2 | g.32064002G>C | CA16604471 | SPAST | c.171G>C (p.Leu57=) c.55G>C c.41G>C c.-88G>C (n.-88G>C) c.47G>C c.12G>C (p.Leu4=) c.5G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064002G= | CA1242461688 | SPAST | c.171G= (p.Leu57=) c.55G= c.41G= c.-88G= (n.-88G=) c.47G= c.12G= (p.Leu4=) c.5G= | |
2 | g.32064002G>T | CA425627382 | SPAST | c.171G>T (p.Leu57=) c.55G>T c.41G>T c.-88G>T (n.-88G>T) c.47G>T c.12G>T (p.Leu4=) c.5G>T | |
2 | g.32064003T>A | CA346601565 | SPAST | c.172T>A (p.Phe58Ile) c.56T>A c.42T>A c.-87T>A (n.-87T>A) c.48T>A c.13T>A (p.Phe5Ile) c.6T>A | |
2 | g.32064003T>C | CA346601567 | SPAST | c.172T>C (p.Phe58Leu) c.56T>C c.42T>C c.-87T>C (n.-87T>C) c.48T>C c.13T>C (p.Phe5Leu) c.6T>C | gnomAD v4 |
2 | g.32064003T>G | CA346601569 | SPAST | c.172T>G (p.Phe58Val) c.56T>G c.42T>G c.-87T>G (n.-87T>G) c.48T>G c.13T>G (p.Phe5Val) c.6T>G | |
2 | g.32064004T>A | CA346601571 | SPAST | c.173T>A (p.Phe58Tyr) c.57T>A c.43T>A c.-86T>A (n.-86T>A) c.49T>A c.14T>A (p.Phe5Tyr) c.7T>A | |
2 | g.32064004T>C | CA346601572 | SPAST | c.173T>C (p.Phe58Ser) c.57T>C c.43T>C c.-86T>C (n.-86T>C) c.49T>C c.14T>C (p.Phe5Ser) c.7T>C | |
2 | g.32064004T>G | CA45201393 | SPAST | c.173T>G (p.Phe58Cys) c.57T>G c.43T>G c.-86T>G (n.-86T>G) c.49T>G c.14T>G (p.Phe5Cys) c.7T>G | dbSNP |
2 | g.32064004T= | CA1242461689 | SPAST | c.173T= (p.Phe58=) c.57T= c.43T= c.-86T= (n.-86T=) c.49T= c.14T= (p.Phe5=) c.7T= | |
2 | g.32064005T>A | CA346601574 | SPAST | c.174T>A (p.Phe58Leu) c.58T>A c.44T>A c.-85T>A (n.-85T>A) c.50T>A c.15T>A (p.Phe5Leu) c.8T>A | |
2 | g.32064005T>C | CA1600513 | SPAST | c.174T>C (p.Phe58=) c.58T>C c.44T>C c.-85T>C (n.-85T>C) c.50T>C c.15T>C (p.Phe5=) c.8T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064005T>G | CA346601576 | SPAST | c.174T>G (p.Phe58Leu) c.58T>G c.44T>G c.-85T>G (n.-85T>G) c.50T>G c.15T>G (p.Phe5Leu) c.8T>G | dbSNP |
2 | g.32064005T= | CA1242461690 | SPAST | c.174T= (p.Phe58=) c.58T= c.44T= c.-85T= (n.-85T=) c.50T= c.15T= (p.Phe5=) c.8T= | |
2 | g.32064006G>A | CA346601578 | SPAST | c.175G>A (p.Val59Ile) c.59G>A c.45G>A c.-84G>A (n.-84G>A) c.51G>A c.16G>A (p.Val6Ile) c.9G>A | gnomAD v4 |
2 | g.32064006G>C | CA346601580 | SPAST | c.175G>C (p.Val59Leu) c.59G>C c.45G>C c.-84G>C (n.-84G>C) c.51G>C c.16G>C (p.Val6Leu) c.9G>C | gnomAD v4 COSMIC |
2 | g.32064006G>T | CA346601582 | SPAST | c.175G>T (p.Val59Leu) c.59G>T c.45G>T c.-84G>T (n.-84G>T) c.51G>T c.16G>T (p.Val6Leu) c.9G>T | |
2 | g.32064007T>A | CA346601584 | SPAST | c.176T>A (p.Val59Glu) c.60T>A c.46T>A c.-83T>A (n.-83T>A) c.52T>A c.17T>A (p.Val6Glu) c.10T>A | |
2 | g.32064007T>C | CA45201394 | SPAST | c.176T>C (p.Val59Ala) c.60T>C c.46T>C c.-83T>C (n.-83T>C) c.52T>C c.17T>C (p.Val6Ala) c.10T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064007T>G | CA346601586 | SPAST | c.176T>G (p.Val59Gly) c.60T>G c.46T>G c.-83T>G (n.-83T>G) c.52T>G c.17T>G (p.Val6Gly) c.10T>G | |
2 | g.32064007T= | CA1242461691 | SPAST | c.176T= (p.Val59=) c.60T= c.46T= c.-83T= (n.-83T=) c.52T= c.17T= (p.Val6=) c.10T= | |
2 | g.32064008A>C | CA425627406 | SPAST | c.177A>C (p.Val59=) c.61A>C c.47A>C c.-82A>C (n.-82A>C) c.53A>C c.18A>C (p.Val6=) c.11A>C | |
2 | g.32064008A>G | CA425627411 | SPAST | c.177A>G (p.Val59=) c.61A>G c.47A>G c.-82A>G (n.-82A>G) c.53A>G c.18A>G (p.Val6=) c.11A>G | gnomAD v4 |
2 | g.32064008A>T | CA425627408 | SPAST | c.177A>T (p.Val59=) c.61A>T c.47A>T c.-82A>T (n.-82A>T) c.53A>T c.18A>T (p.Val6=) c.11A>T | |
2 | g.32064009G>A | CA346601588 | SPAST | c.178G>A (p.Gly60Ser) c.62G>A c.48G>A c.-81G>A (n.-81G>A) c.54G>A c.19G>A (p.Gly7Ser) c.12G>A | |
2 | g.32064009G>C | CA346601589 | SPAST | c.178G>C (p.Gly60Arg) c.62G>C c.48G>C c.-81G>C (n.-81G>C) c.54G>C c.19G>C (p.Gly7Arg) c.12G>C | |
2 | g.32064009G>T | CA346601591 | SPAST | c.178G>T (p.Gly60Cys) c.62G>T c.48G>T c.-81G>T (n.-81G>T) c.54G>T c.19G>T (p.Gly7Cys) c.12G>T | |
2 | g.32064010G>A | CA346601594 | SPAST | c.179G>A (p.Gly60Asp) c.63G>A c.49G>A c.-80G>A (n.-80G>A) c.55G>A c.20G>A (p.Gly7Asp) c.13G>A | ClinVar dbSNP |
2 | g.32064010G>C | CA346601595 | SPAST | c.179G>C (p.Gly60Ala) c.63G>C c.49G>C c.-80G>C (n.-80G>C) c.55G>C c.20G>C (p.Gly7Ala) c.13G>C | |
2 | g.32064010G= | CA1242461692 | SPAST | c.179G= (p.Gly60=) c.63G= c.49G= c.-80G= (n.-80G=) c.55G= c.20G= (p.Gly7=) c.13G= | |
2 | g.32064010G>T | CA346601597 | SPAST | c.179G>T (p.Gly60Val) c.63G>T c.49G>T c.-80G>T (n.-80G>T) c.55G>T c.20G>T (p.Gly7Val) c.13G>T | |
2 | g.32064011C>A | CA425627423 | SPAST | c.180C>A (p.Gly60=) c.64C>A c.50C>A c.-79C>A (n.-79C>A) c.56C>A c.21C>A (p.Gly7=) c.14C>A | |
2 | g.32064011C= | CA1242461693 | SPAST | c.180C= (p.Gly60=) c.64C= c.50C= c.-79C= (n.-79C=) c.56C= c.21C= (p.Gly7=) c.14C= | |
2 | g.32064011C>G | CA425627424 | SPAST | c.180C>G (p.Gly60=) c.64C>G c.50C>G c.-79C>G (n.-79C>G) c.56C>G c.21C>G (p.Gly7=) c.14C>G | dbSNP |
2 | g.32064011C>T | CA425627426 | SPAST | c.180C>T (p.Gly60=) c.64C>T c.50C>T c.-79C>T (n.-79C>T) c.56C>T c.21C>T (p.Gly7=) c.14C>T | gnomAD v4 |
2 | g.32064012T>A | CA346601602 | SPAST | c.181T>A (p.Phe61Ile) c.65T>A c.51T>A c.-78T>A (n.-78T>A) c.57T>A c.22T>A (p.Phe8Ile) c.15T>A | |
2 | g.32064012T>C | CA346601599 | SPAST | c.181T>C (p.Phe61Leu) c.65T>C c.51T>C c.-78T>C (n.-78T>C) c.57T>C c.22T>C (p.Phe8Leu) c.15T>C | |
2 | g.32064012T>G | CA346601601 | SPAST | c.181T>G (p.Phe61Val) c.65T>G c.51T>G c.-78T>G (n.-78T>G) c.57T>G c.22T>G (p.Phe8Val) c.15T>G | |
2 | g.32064013T>A | CA346601605 | SPAST | c.182T>A (p.Phe61Tyr) c.66T>A c.52T>A c.-77T>A (n.-77T>A) c.58T>A c.23T>A (p.Phe8Tyr) c.16T>A | |
2 | g.32064013T>C | CA346601606 | SPAST | c.182T>C (p.Phe61Ser) c.66T>C c.52T>C c.-77T>C (n.-77T>C) c.58T>C c.23T>C (p.Phe8Ser) c.16T>C | |
2 | g.32064013T>G | CA346601608 | SPAST | c.182T>G (p.Phe61Cys) c.66T>G c.52T>G c.-77T>G (n.-77T>G) c.58T>G c.23T>G (p.Phe8Cys) c.16T>G | |
2 | g.32064014C>A | CA346601609 | SPAST | c.183C>A (p.Phe61Leu) c.67C>A c.53C>A c.-76C>A (n.-76C>A) c.59C>A c.24C>A (p.Phe8Leu) c.17C>A | |
2 | g.32064014C>G | CA346601611 | SPAST | c.183C>G (p.Phe61Leu) c.67C>G c.53C>G c.-76C>G (n.-76C>G) c.59C>G c.24C>G (p.Phe8Leu) c.17C>G | ClinVar COSMIC |
2 | g.32064014C>T | CA425627444 | SPAST | c.183C>T (p.Phe61=) c.67C>T c.53C>T c.-76C>T (n.-76C>T) c.59C>T c.24C>T (p.Phe8=) c.17C>T | |
2 | g.32064015G>A | CA346601613 | SPAST | c.184G>A (p.Ala62Thr) c.68G>A c.54G>A c.-75G>A (n.-75G>A) c.60G>A c.25G>A (p.Ala9Thr) c.18G>A | |
2 | g.32064015G>C | CA346601614 | SPAST | c.184G>C (p.Ala62Pro) c.68G>C c.54G>C c.-75G>C (n.-75G>C) c.60G>C c.25G>C (p.Ala9Pro) c.18G>C | |
2 | g.32064015G>T | CA346601616 | SPAST | c.184G>T (p.Ala62Ser) c.68G>T c.54G>T c.-75G>T (n.-75G>T) c.60G>T c.25G>T (p.Ala9Ser) c.18G>T | |
2 | g.32064016C>A | CA346601617 | SPAST | c.185C>A (p.Ala62Glu) c.69C>A c.55C>A c.-74C>A (n.-74C>A) c.61C>A c.26C>A (p.Ala9Glu) c.19C>A | gnomAD v4 |
2 | g.32064016C= | CA1242461694 | SPAST | c.185C= (p.Ala62=) c.69C= c.55C= c.-74C= (n.-74C=) c.61C= c.26C= (p.Ala9=) c.19C= | |
2 | g.32064016C>G | CA346601619 | SPAST | c.185C>G (p.Ala62Gly) c.69C>G c.55C>G c.-74C>G (n.-74C>G) c.61C>G c.26C>G (p.Ala9Gly) c.19C>G | |
2 | g.32064016C>T | CA1600514 | SPAST | c.185C>T (p.Ala62Val) c.69C>T c.55C>T c.-74C>T (n.-74C>T) c.61C>T c.26C>T (p.Ala9Val) c.19C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32064016dup | CA2580066380 | SPAST | c.185dup (p.Leu63AlafsTer?) c.69dup c.55dup c.-74dup (n.-74dup) c.61dup c.26dup (p.Leu10AlafsTer?) c.19dup | ClinVar |
2 | g.32064017G>A | CA425627451 | SPAST | c.186G>A (p.Ala62=) c.70G>A c.56G>A c.-73G>A (n.-73G>A) c.62G>A c.27G>A (p.Ala9=) c.20G>A | gnomAD v4 |
2 | g.32064017G>C | CA425627453 | SPAST | c.186G>C (p.Ala62=) c.70G>C c.56G>C c.-73G>C (n.-73G>C) c.62G>C c.27G>C (p.Ala9=) c.20G>C | COSMIC |
2 | g.32064017G>T | CA425627455 | SPAST | c.186G>T (p.Ala62=) c.70G>T c.56G>T c.-73G>T (n.-73G>T) c.62G>T c.27G>T (p.Ala9=) c.20G>T | |
2 | g.32064022_32064024dup | CA2580611615 | SPAST | c.191_193dup (p.Leu64_Arg65insLeu) c.75_77dup c.61_63dup c.-68_-66dup (n.-68_-66dup) c.67_69dup c.32_34dup (p.Leu11_Arg12insLeu) c.25_27dup | ClinVar |
2 | g.32064018C>A | CA346601624 | SPAST | c.187C>A (p.Leu63Met) c.71C>A c.57C>A c.-72C>A (n.-72C>A) c.63C>A c.28C>A (p.Leu10Met) c.21C>A | |
2 | g.32064018C= | CA1242461695 | SPAST | c.187C= (p.Leu63=) c.71C= c.57C= c.-72C= (n.-72C=) c.63C= c.28C= (p.Leu10=) c.21C= | |
2 | g.32064018C>G | CA346601623 | SPAST | c.187C>G (p.Leu63Val) c.71C>G c.57C>G c.-72C>G (n.-72C>G) c.63C>G c.28C>G (p.Leu10Val) c.21C>G | gnomAD v4 |
2 | g.32064018C>T | CA1600515 | SPAST | c.187C>T (p.Leu63=) c.71C>T c.57C>T c.-72C>T (n.-72C>T) c.63C>T c.28C>T (p.Leu10=) c.21C>T | dbSNP ExAC gnomAD v4 COSMIC |
2 | g.32064019T>A | CA346601625 | SPAST | c.188T>A (p.Leu63Gln) c.72T>A c.58T>A c.-71T>A (n.-71T>A) c.64T>A c.29T>A (p.Leu10Gln) c.22T>A | |
2 | g.32064019T>C | CA346601626 | SPAST | c.188T>C (p.Leu63Pro) c.72T>C c.58T>C c.-71T>C (n.-71T>C) c.64T>C c.29T>C (p.Leu10Pro) c.22T>C | |
2 | g.32064019T>G | CA346601627 | SPAST | c.188T>G (p.Leu63Arg) c.72T>G c.58T>G c.-71T>G (n.-71T>G) c.64T>G c.29T>G (p.Leu10Arg) c.22T>G |