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.32063873C>A | CA425580707 | SPAST | c.42C>A (p.Gly14=) | gnomAD v4 |
2 | g.32063873C= | CA1242461585 | SPAST | c.42C= (p.Gly14=) | |
2 | g.32063873C>G | CA425580708 | SPAST | c.42C>G (p.Gly14=) | |
2 | g.32063873C>T | CA425580709 | SPAST | c.42C>T (p.Gly14=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063874G>A | CA346601252 | SPAST | c.43G>A (p.Gly15Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063874G>C | CA346601253 | SPAST | c.43G>C (p.Gly15Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063874G= | CA1242461586 | SPAST | c.43G= (p.Gly15=) | |
2 | g.32063874G>T | CA346601254 | SPAST | c.43G>T (p.Gly15Cys) | gnomAD v4 |
2 | g.32063875G>A | CA346601257 | SPAST | c.44G>A (p.Gly15Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063875G>C | CA346601256 | SPAST | c.44G>C (p.Gly15Ala) | |
2 | g.32063875G= | CA1242461587 | SPAST | c.44G= (p.Gly15=) | |
2 | g.32063875G>T | CA346601255 | SPAST | c.44G>T (p.Gly15Val) | gnomAD v4 |
2 | g.32063876C>A | CA425626852 | SPAST | c.45C>A (p.Gly15=) | gnomAD v4 |
2 | g.32063876C= | CA1242461588 | SPAST | c.45C= (p.Gly15=) | |
2 | g.32063876C>G | CA425626853 | SPAST | c.45C>G (p.Gly15=) | |
2 | g.32063876C>T | CA425626854 | SPAST | c.45C>T (p.Gly15=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063877G>A | CA1600464 | SPAST | c.46G>A (p.Ala16Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063877G>C | CA1600463 | SPAST | c.46G>C (p.Ala16Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063877G= | CA1242461589 | SPAST | c.46G= (p.Ala16=) | |
2 | g.32063877G>T | CA346601258 | SPAST | c.46G>T (p.Ala16Ser) | gnomAD v4 |
2 | g.32063878C>A | CA346601259 | SPAST | c.47C>A (p.Ala16Asp) | gnomAD v4 |
2 | g.32063878C= | CA1242461590 | SPAST | c.47C= (p.Ala16=) | |
2 | g.32063878C>G | CA346601260 | SPAST | c.47C>G (p.Ala16Gly) | gnomAD v4 |
2 | g.32063878C>T | CA1600465 | SPAST | c.47C>T (p.Ala16Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063879C>A | CA425626874 | SPAST | c.48C>A (p.Ala16=) | gnomAD v4 |
2 | g.32063879C>G | CA425626875 | SPAST | c.48C>G (p.Ala16=) | |
2 | g.32063879C>T | CA425626872 | SPAST | c.48C>T (p.Ala16=) | gnomAD v4 |
2 | g.32063879_32063880insGGGAAG | CA2503527320 | SPAST | c.48_49insGGGAAG (p.Ala16_Ser17insGlyLys) | |
2 | g.32063880A= | CA1242461591 | SPAST | c.49A= (p.Ser17=) | |
2 | g.32063880A>C | CA1600466 | SPAST | c.49A>C (p.Ser17Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063880A>G | CA346601261 | SPAST | c.49A>G (p.Ser17Gly) | gnomAD v4 |
2 | g.32063880A>T | CA346601262 | SPAST | c.49A>T (p.Ser17Cys) | |
2 | g.32063881G>A | CA346601263 | SPAST | c.50G>A (p.Ser17Asn) | dbSNP gnomAD v4 |
2 | g.32063881G>C | CA346601264 | SPAST | c.50G>C (p.Ser17Thr) | |
2 | g.32063881G= | CA1242461592 | SPAST | c.50G= (p.Ser17=) | |
2 | g.32063881G>T | CA346601265 | SPAST | c.50G>T (p.Ser17Ile) | gnomAD v4 |
2 | g.32063882C>A | CA346601266 | SPAST | c.51C>A (p.Ser17Arg) | gnomAD v4 |
2 | g.32063882C= | CA1242461593 | SPAST | c.51C= (p.Ser17=) | |
2 | g.32063882C>G | CA346601267 | SPAST | c.51C>G (p.Ser17Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063882C>T | CA425626884 | SPAST | c.51C>T (p.Ser17=) | gnomAD v4 |
2 | g.32063883A>C | CA346601268 | SPAST | c.52A>C (p.Asn18His) | |
2 | g.32063883A>G | CA346601269 | SPAST | c.52A>G (p.Asn18Asp) | |
2 | g.32063883A>T | CA346601270 | SPAST | c.52A>T (p.Asn18Tyr) | |
2 | g.32063884A= | CA1242461594 | SPAST | c.53A= (p.Asn18=) | |
2 | g.32063884A>C | CA346601271 | SPAST | c.53A>C (p.Asn18Thr) | dbSNP |
2 | g.32063884A>G | CA346601272 | SPAST | c.53A>G (p.Asn18Ser) | |
2 | g.32063884A>T | CA346601273 | SPAST | c.53A>T (p.Asn18Ile) | dbSNP gnomAD v4 |
2 | g.32063885C>A | CA346601274 | SPAST | c.54C>A (p.Asn18Lys) | gnomAD v4 |
2 | g.32063885C= | CA1242461595 | SPAST | c.54C= (p.Asn18=) | |
2 | g.32063885C>G | CA346601275 | SPAST | c.54C>G (p.Asn18Lys) | |
2 | g.32063885C>T | CA425626901 | SPAST | c.54C>T (p.Asn18=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063887del | CA2658519893 | SPAST | c.56del (p.Pro19ArgfsTer?) | gnomAD v4 |
2 | g.32063885_32063888delinsCCCG | CA1242461596 | SPAST | c.54_57delinsCCCG (p.Asn18=) | |
2 | g.32063886C>A | CA1600468 | SPAST | c.55C>A (p.Pro19Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063886C= | CA1242461597 | SPAST | c.55C= (p.Pro19=) | |
2 | g.32063886C>G | CA346601276 | SPAST | c.55C>G (p.Pro19Ala) | ClinVar |
2 | g.32063886C>T | CA10615118 | SPAST | c.55C>T (p.Pro19Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063886_32063888del | CA1600467 | SPAST | c.55_57del (p.Pro19del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063889_32063906dup | CA767797197 | SPAST | c.58_75dup (p.Pro25_Pro26insValProProArgProPro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063887C>A | CA346601279 | SPAST | c.56C>A (p.Pro19Gln) | gnomAD v4 |
2 | g.32063887C= | CA1242461598 | SPAST | c.56C= (p.Pro19=) | |
2 | g.32063887C>G | CA346601277 | SPAST | c.56C>G (p.Pro19Arg) | dbSNP |
2 | g.32063887C>T | CA346601278 | SPAST | c.56C>T (p.Pro19Leu) | dbSNP gnomAD v4 |
2 | g.32063888G>A | CA425626913 | SPAST | c.57G>A (p.Pro19=) | gnomAD v4 |
2 | g.32063888G>C | CA1600469 | SPAST | c.57G>C (p.Pro19=) | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.32063888G= | CA1242461599 | SPAST | c.57G= (p.Pro19=) | |
2 | g.32063888G>T | CA425626927 | SPAST | c.57G>T (p.Pro19=) | gnomAD v4 |
2 | g.32063889G>A | CA346601280 | SPAST | c.58G>A (p.Val20Met) | gnomAD v4 |
2 | g.32063889G>C | CA45201384 | SPAST | c.58G>C (p.Val20Leu) | dbSNP gnomAD v4 |
2 | g.32063889G= | CA1242461600 | SPAST | c.58G= (p.Val20=) | |
2 | g.32063889G>T | CA346601281 | SPAST | c.58G>T (p.Val20Leu) | gnomAD v4 |
2 | g.32063890T>A | CA346601282 | SPAST | c.59T>A (p.Val20Glu) | |
2 | g.32063890T>C | CA346601283 | SPAST | c.59T>C (p.Val20Ala) | gnomAD v4 |
2 | g.32063890T>G | CA346601284 | SPAST | c.59T>G (p.Val20Gly) | |
2 | g.32063890_32063892delinsA | CA2580066368 | SPAST | c.59_61delinsA (p.Val20AspfsTer27) | ClinVar |
2 | g.32063891G>A | CA1600470 | SPAST | c.60G>A (p.Val20=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063891G>C | CA425626935 | SPAST | c.60G>C (p.Val20=) | |
2 | g.32063891G= | CA1242461601 | SPAST | c.60G= (p.Val20=) | |
2 | g.32063891G>T | CA45201385 | SPAST | c.60G>T (p.Val20=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063892C>A | CA45201386 | SPAST | c.61C>A (p.Pro21Thr) | dbSNP gnomAD v4 |
2 | g.32063892C= | CA1242461602 | SPAST | c.61C= (p.Pro21=) | |
2 | g.32063892C>G | CA346601285 | SPAST | c.61C>G (p.Pro21Ala) | |
2 | g.32063892C>T | CA346601286 | SPAST | c.61C>T (p.Pro21Ser) | |
2 | g.32063893C>A | CA346601289 | SPAST | c.62C>A (p.Pro21His) | gnomAD v4 |
2 | g.32063893C= | CA1242461603 | SPAST | c.62C= (p.Pro21=) | |
2 | g.32063893C>G | CA346601288 | SPAST | c.62C>G (p.Pro21Arg) | |
2 | g.32063893C>T | CA346601287 | SPAST | c.62C>T (p.Pro21Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063894T>A | CA425626947 | SPAST | c.63T>A (p.Pro21=) | gnomAD v4 |
2 | g.32063894T>C | CA425626948 | SPAST | c.63T>C (p.Pro21=) | dbSNP gnomAD v4 |
2 | g.32063894T>G | CA425626954 | SPAST | c.63T>G (p.Pro21=) | |
2 | g.32063894T= | CA1242461604 | SPAST | c.63T= (p.Pro21=) | |
2 | g.32063895C>A | CA346601290 | SPAST | c.64C>A (p.Pro22Thr) | gnomAD v4 |
2 | g.32063895C= | CA1242461605 | SPAST | c.64C= (p.Pro22=) | |
2 | g.32063895C>G | CA1600472 | SPAST | c.64C>G (p.Pro22Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063895C>T | CA1600471 | SPAST | c.64C>T (p.Pro22Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063897del | CA2658519894 | SPAST | c.66del (p.Arg23GlyfsTer?) | gnomAD v4 |
2 | g.32063896C>A | CA346601291 | SPAST | c.65C>A (p.Pro22His) | |
2 | g.32063896C>G | CA346601292 | SPAST | c.65C>G (p.Pro22Arg) | |
2 | g.32063896C>T | CA346601293 | SPAST | c.65C>T (p.Pro22Leu) | |
2 | g.32063898_32063916dup | CA1242461606 | SPAST | c.67_85dup (p.Leu29GlnfsTer25) | ClinVar dbSNP |
2 | g.32063897C>A | CA425626965 | SPAST | c.66C>A (p.Pro22=) | gnomAD v4 |
2 | g.32063897C= | CA1242461607 | SPAST | c.66C= (p.Pro22=) | |
2 | g.32063897C>G | CA425626967 | SPAST | c.66C>G (p.Pro22=) | dbSNP gnomAD v4 |
2 | g.32063897C>T | CA425626969 | SPAST | c.66C>T (p.Pro22=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063898A>C | CA425626972 | SPAST | c.67A>C (p.Arg23=) | |
2 | g.32063898A>G | CA346601294 | SPAST | c.67A>G (p.Arg23Gly) | ClinVar gnomAD v4 |
2 | g.32063898A>T | CA346601295 | SPAST | c.67A>T (p.Arg23Trp) | |
2 | g.32063898_32063917delinsAGGCCTCCGCCCCCTTGCCT | CA1242461608 | SPAST | c.67_86delinsAGGCCTCCGCCCCCTTGCCT (p.Arg23=) | |
2 | g.32063899G>A | CA1600473 | SPAST | c.68G>A (p.Arg23Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063899G>C | CA346601296 | SPAST | c.68G>C (p.Arg23Thr) | gnomAD v4 |
2 | g.32063899G= | CA1242461609 | SPAST | c.68G= (p.Arg23=) | |
2 | g.32063899G>T | CA346601297 | SPAST | c.68G>T (p.Arg23Met) | gnomAD v4 |
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.32063900G>A | CA425626991 | SPAST | c.69G>A (p.Arg23=) | gnomAD v4 |
2 | g.32063900G>C | CA346601298 | SPAST | c.69G>C (p.Arg23Ser) | dbSNP |
2 | g.32063900G= | CA1242461610 | SPAST | c.69G= (p.Arg23=) | |
2 | g.32063900G>T | CA346601299 | SPAST | c.69G>T (p.Arg23Ser) | |
2 | g.32063901C>A | CA346601300 | SPAST | c.70C>A (p.Pro24Thr) | gnomAD v4 |
2 | g.32063901C>G | CA346601301 | SPAST | c.70C>G (p.Pro24Ala) | |
2 | g.32063901C>T | CA346601302 | SPAST | c.70C>T (p.Pro24Ser) | ClinVar gnomAD v4 |
2 | g.32063910_32063957del | CA2658519895 | SPAST | c.79_126del (p.Pro27_Pro42del) | dbSNP gnomAD v4 |
2 | g.32063902C>A | CA346601303 | SPAST | c.71C>A (p.Pro24His) | gnomAD v4 |
2 | g.32063902C>G | CA346601305 | SPAST | c.71C>G (p.Pro24Arg) | |
2 | g.32063902C>T | CA346601304 | SPAST | c.71C>T (p.Pro24Leu) | |
2 | g.32063903T>A | CA425627000 | SPAST | c.72T>A (p.Pro24=) | gnomAD v4 |
2 | g.32063903T>C | CA425627003 | SPAST | c.72T>C (p.Pro24=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063903T>G | CA425627005 | SPAST | c.72T>G (p.Pro24=) | gnomAD v4 |
2 | g.32063903T= | CA1242461611 | SPAST | c.72T= (p.Pro24=) | |
2 | g.32063904C>A | CA346601306 | SPAST | c.73C>A (p.Pro25Thr) | |
2 | g.32063904C= | CA1242461612 | SPAST | c.73C= (p.Pro25=) | |
2 | g.32063904C>G | CA346601307 | SPAST | c.73C>G (p.Pro25Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063904C>T | CA1600474 | SPAST | c.73C>T (p.Pro25Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063905dup | CA2497030247 | SPAST | c.74dup (p.Pro26AlafsTer22) | dbSNP |
2 | g.32063911_32063929dup | CA2586968930 | SPAST | c.80_98dup (p.Pro34LeufsTer20) | |
2 | g.32063905C>A | CA346601308 | SPAST | c.74C>A (p.Pro25Gln) | gnomAD v4 |
2 | g.32063905C= | CA1242461613 | SPAST | c.74C= (p.Pro25=) | |
2 | g.32063905C>G | CA346601309 | SPAST | c.74C>G (p.Pro25Arg) | |
2 | g.32063905C>T | CA346601310 | SPAST | c.74C>T (p.Pro25Leu) | dbSNP gnomAD v4 |
2 | g.32063906del | CA2699033080 | SPAST | c.75del (p.Pro27LeufsTer?) | dbSNP |
2 | g.32063906G>A | CA45201388 | SPAST | c.75G>A (p.Pro25=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063906G>C | CA425627030 | SPAST | c.75G>C (p.Pro25=) | dbSNP |
2 | g.32063906G= | CA1242461614 | SPAST | c.75G= (p.Pro25=) | |
2 | g.32063906G>T | CA425627031 | SPAST | c.75G>T (p.Pro25=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063907C>A | CA346601311 | SPAST | c.76C>A (p.Pro26Thr) | |
2 | g.32063907C= | CA1242461615 | SPAST | c.76C= (p.Pro26=) | |
2 | g.32063907C>G | CA346601312 | SPAST | c.76C>G (p.Pro26Ala) | dbSNP |
2 | g.32063907C>T | CA1600475 | SPAST | c.76C>T (p.Pro26Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063911dup | CA2586968931 | SPAST | c.80dup (p.Cys28LeufsTer20) | dbSNP |
2 | g.32063911del | CA2658519896 | SPAST | c.80del (p.Pro27LeufsTer?) | gnomAD v4 |
2 | g.32063908C>A | CA346601315 | SPAST | c.77C>A (p.Pro26His) | |
2 | g.32063908C>G | CA346601314 | SPAST | c.77C>G (p.Pro26Arg) | |
2 | g.32063908C>T | CA346601313 | SPAST | c.77C>T (p.Pro26Leu) | |
2 | g.32063909C>A | CA1600477 | SPAST | c.78C>A (p.Pro26=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063909C= | CA1242461616 | SPAST | c.78C= (p.Pro26=) | |
2 | g.32063909C>G | CA425627045 | SPAST | c.78C>G (p.Pro26=) | dbSNP |
2 | g.32063909C>T | CA1600476 | SPAST | c.78C>T (p.Pro26=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063910C>A | CA346601316 | SPAST | c.79C>A (p.Pro27Thr) | dbSNP gnomAD v2 |
2 | g.32063910C= | CA1242461617 | SPAST | c.79C= (p.Pro27=) | |
2 | g.32063910C>G | CA346601317 | SPAST | c.79C>G (p.Pro27Ala) | |
2 | g.32063910C>T | CA346601318 | SPAST | c.79C>T (p.Pro27Ser) | dbSNP |
2 | g.32063911C>A | CA346601319 | SPAST | c.80C>A (p.Pro27His) | |
2 | g.32063911C= | CA1242461618 | SPAST | c.80C= (p.Pro27=) | |
2 | g.32063911C>G | CA346601320 | SPAST | c.80C>G (p.Pro27Arg) | gnomAD v4 |
2 | g.32063911C>T | CA346601321 | SPAST | c.80C>T (p.Pro27Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063912_32063915del | CA2699033096 | SPAST | c.81_84del (p.Cys28TrpfsTer?) | dbSNP |
2 | g.32063911_32063912insG | CA2699033104 | SPAST | c.80_81insG (p.Cys28LeufsTer20) | dbSNP |
2 | g.32063912T>A | CA425627056 | SPAST | c.81T>A (p.Pro27=) | dbSNP |
2 | g.32063912T>C | CA425627057 | SPAST | c.81T>C (p.Pro27=) | dbSNP gnomAD v4 |
2 | g.32063912T>G | CA425627058 | SPAST | c.81T>G (p.Pro27=) | dbSNP |
2 | g.32063912_32063914del | CA2699033150 | SPAST | c.81_83del (p.Cys28del) | dbSNP |
2 | g.32063913T>A | CA346601322 | SPAST | c.82T>A (p.Cys28Ser) | |
2 | g.32063913T>C | CA346601323 | SPAST | c.82T>C (p.Cys28Arg) | |
2 | g.32063913T>G | CA346601324 | SPAST | c.82T>G (p.Cys28Gly) | dbSNP |
2 | g.32063914G>A | CA346601325 | SPAST | c.83G>A (p.Cys28Tyr) | gnomAD v4 |
2 | g.32063914G>C | CA346601326 | SPAST | c.83G>C (p.Cys28Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.32063914G= | CA1242461619 | SPAST | c.83G= (p.Cys28=) | |
2 | g.32063914G>T | CA346601327 | SPAST | c.83G>T (p.Cys28Phe) | gnomAD v4 |
2 | g.32063915C>A | CA346601328 | SPAST | c.84C>A (p.Cys28Ter) | |
2 | g.32063915C>G | CA346601329 | SPAST | c.84C>G (p.Cys28Trp) | dbSNP gnomAD v4 |
2 | g.32063915C>T | CA425627070 | SPAST | c.84C>T (p.Cys28=) | |
2 | g.32063916dup | CA2586968932 | SPAST | c.85dup (p.Leu29ProfsTer19) | |
2 | g.32063916C>A | CA346601330 | SPAST | c.85C>A (p.Leu29Met) | |
2 | g.32063916C= | CA1242461620 | SPAST | c.85C= (p.Leu29=) | |
2 | g.32063916C>G | CA346601331 | SPAST | c.85C>G (p.Leu29Val) | dbSNP gnomAD v4 |
2 | g.32063916C>T | CA425627072 | SPAST | c.85C>T (p.Leu29=) | dbSNP |
2 | g.32063916_32063917insG | CA2699033221 | SPAST | c.85_86insG (p.Leu29ArgfsTer19) | dbSNP |
2 | g.32063917T>A | CA346601332 | SPAST | c.86T>A (p.Leu29Gln) | dbSNP |
2 | g.32063917T>C | CA346601333 | SPAST | c.86T>C (p.Leu29Pro) | dbSNP gnomAD v4 |
2 | g.32063917T>G | CA346601334 | SPAST | c.86T>G (p.Leu29Arg) | dbSNP |
2 | g.32063917T= | CA1242461621 | SPAST | c.86T= (p.Leu29=) | |
2 | g.32063918G>A | CA425627078 | SPAST | c.87G>A (p.Leu29=) | ClinVar |
2 | g.32063918G>C | CA425627080 | SPAST | c.87G>C (p.Leu29=) | |
2 | g.32063918G= | CA1242461622 | SPAST | c.87G= (p.Leu29=) | |
2 | g.32063918G>T | CA425627083 | SPAST | c.87G>T (p.Leu29=) | dbSNP gnomAD v4 |
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 |