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.32063781_32063785delinsCGTCG | CA1242461523 | SPAST | c.-51_-47delinsCGTCG (n.-51_-47delinsCGTCG) | |
2 | g.32063785_32063788del | CA1600438 | SPAST | c.-47_-44del (n.-47_-44del) | dbSNP ExAC |
2 | g.32063783T>A | CA1242461526 | SPAST | c.-49T>A (n.-49T>A) | dbSNP |
2 | g.32063783T= | CA1242461525 | SPAST | c.-49T= (n.-49T=) | |
2 | g.32063784C>A | CA646623143 | SPAST | c.-48C>A (n.-48C>A) | gnomAD v4 COSMIC |
2 | g.32063784C= | CA1242461527 | SPAST | c.-48C= (n.-48C=) | |
2 | g.32063784C>T | CA1242461528 | SPAST | c.-48C>T (n.-48C>T) | dbSNP gnomAD v4 |
2 | g.32063785G>A | CA1600440 | SPAST | c.-47G>A (n.-47G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063785G= | CA1242461529 | SPAST | c.-47G= (n.-47G=) | |
2 | g.32063785G>T | CA646623144 | SPAST | c.-47G>T (n.-47G>T) | gnomAD v4 COSMIC |
2 | g.32063786G>A | CA767797014 | SPAST | c.-46G>A (n.-46G>A) | dbSNP |
2 | g.32063786G= | CA1242461530 | SPAST | c.-46G= (n.-46G=) | |
2 | g.32063786G>T | CA1242461531 | SPAST | c.-46G>T (n.-46G>T) | dbSNP gnomAD v4 |
2 | g.32063787T>C | CA2576929907 | SPAST | c.-45T>C (n.-45T>C) | gnomAD v4 |
2 | g.32063787_32063789del | CA2658518933 | SPAST | c.-45_-43del (n.-45_-43del) | gnomAD v4 |
2 | g.32063788C>A | CA2658518934 | SPAST | c.-44C>A (n.-44C>A) | gnomAD v4 |
2 | g.32063788C= | CA1242461532 | SPAST | c.-44C= (n.-44C=) | |
2 | g.32063788C>T | CA1600441 | SPAST | c.-44C>T (n.-44C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063789_32063796delinsTGCGGGAG | CA1242461533 | SPAST | c.-43_-36delinsTGCGGGAG (n.-43_-36delinsTGCGGGAG) | |
2 | g.32063790G>C | CA2658518935 | SPAST | c.-42G>C (n.-42G>C) | gnomAD v4 |
2 | g.32063790G= | CA1242461534 | SPAST | c.-42G= (n.-42G=) | |
2 | g.32063790G>T | CA531746176 | SPAST | c.-42G>T (n.-42G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063795_32063801del | CA767797026 | SPAST | c.-37_-31del (n.-37_-31del) | dbSNP |
2 | g.32063790_32063791insAA | CA2658518937 | SPAST | c.-42_-41insAA (n.-42_-41insAA) | gnomAD v4 |
2 | g.32063791C>A | CA2658518936 | SPAST | c.-41C>A (n.-41C>A) | gnomAD v4 |
2 | g.32063791C= | CA1242461535 | SPAST | c.-41C= (n.-41C=) | |
2 | g.32063791C>G | CA2658518938 | SPAST | c.-41C>G (n.-41C>G) | gnomAD v4 |
2 | g.32063791C>T | CA1600442 | SPAST | c.-41C>T (n.-41C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063791_32063792insT | CA646623145 | SPAST | c.-41_-40insT (n.-41_-40insT) | |
2 | g.32063792G>A | CA531746181 | SPAST | c.-40G>A (n.-40G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063792G>C | CA2658518939 | SPAST | c.-40G>C (n.-40G>C) | gnomAD v4 |
2 | g.32063792G= | CA1242461536 | SPAST | c.-40G= (n.-40G=) | |
2 | g.32063792G>T | CA2658518940 | SPAST | c.-40G>T (n.-40G>T) | gnomAD v4 |
2 | g.32063793G>A | CA45201379 | SPAST | c.-39G>A (n.-39G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063793G= | CA1242461537 | SPAST | c.-39G= (n.-39G=) | |
2 | g.32063793G>T | CA45201380 | SPAST | c.-39G>T (n.-39G>T) | dbSNP |
2 | g.32063794G>A | CA2576929908 | SPAST | c.-38G>A (n.-38G>A) | |
2 | g.32063794G>T | CA2658518941 | SPAST | c.-38G>T (n.-38G>T) | gnomAD v4 |
2 | g.32063795A>C | CA2576929909 | SPAST | c.-37A>C (n.-37A>C) | gnomAD v4 |
2 | g.32063795_32063796delinsAG | CA1242461538 | SPAST | c.-37_-36delinsAG (n.-37_-36delinsAG) | |
2 | g.32063796G>T | CA2658518942 | SPAST | c.-36G>T (n.-36G>T) | gnomAD v4 |
2 | g.32063797del | CA1242461539 | SPAST | c.-35del (n.-35del) | dbSNP |
2 | g.32063797G>A | CA2658518943 | SPAST | c.-35G>A (n.-35G>A) | gnomAD v4 |
2 | g.32063797G>T | CA2658518944 | SPAST | c.-35G>T (n.-35G>T) | gnomAD v4 |
2 | g.32063798C>A | CA1242461541 | SPAST | c.-34C>A (n.-34C>A) | dbSNP gnomAD v4 |
2 | g.32063798C= | CA1242461540 | SPAST | c.-34C= (n.-34C=) | |
2 | g.32063798C>T | CA2576929910 | SPAST | c.-34C>T (n.-34C>T) | gnomAD v4 |
2 | g.32063799G>T | CA2658518945 | SPAST | c.-33G>T (n.-33G>T) | gnomAD v4 |
2 | g.32063800G>A | CA2658518947 | SPAST | c.-32G>A (n.-32G>A) | gnomAD v4 |
2 | g.32063800G>C | CA2658518946 | SPAST | c.-32G>C (n.-32G>C) | gnomAD v4 |
2 | g.32063801G>A | CA2658518948 | SPAST | c.-31G>A (n.-31G>A) | gnomAD v4 |
2 | g.32063801G>C | CA2658518949 | SPAST | c.-31G>C (n.-31G>C) | gnomAD v4 |
2 | g.32063802T>C | CA2658518950 | SPAST | c.-30T>C (n.-30T>C) | gnomAD v4 |
2 | g.32063802T>G | CA2658518951 | SPAST | c.-30T>G (n.-30T>G) | gnomAD v4 |
2 | g.32063804A>G | CA2658518952 | SPAST | c.-28A>G (n.-28A>G) | gnomAD v4 |
2 | g.32063805T>C | CA45201381 | SPAST | c.-27T>C (n.-27T>C) | dbSNP |
2 | g.32063805T= | CA1242461542 | SPAST | c.-27T= (n.-27T=) | |
2 | g.32063805_32063808delinsTGGC | CA1242461543 | SPAST | c.-27_-24delinsTGGC (n.-27_-24delinsTGGC) | |
2 | g.32063806G>A | CA2658518953 | SPAST | c.-26G>A (n.-26G>A) | dbSNP gnomAD v4 |
2 | g.32063806G>T | CA2658518954 | SPAST | c.-26G>T (n.-26G>T) | gnomAD v4 |
2 | g.32063815_32063817dup | CA531746185 | SPAST | c.-17_-15dup (n.-17_-15dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063815_32063817del | CA531746188 | SPAST | c.-17_-15del (n.-17_-15del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063807G>A | CA531746190 | SPAST | c.-25G>A (n.-25G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063807G= | CA1242461544 | SPAST | c.-25G= (n.-25G=) | |
2 | g.32063807G>T | CA2658518955 | SPAST | c.-25G>T (n.-25G>T) | gnomAD v4 |
2 | g.32063808C>A | CA2658518956 | SPAST | c.-24C>A (n.-24C>A) | gnomAD v4 |
2 | g.32063808C>G | CA2658518957 | SPAST | c.-24C>G (n.-24C>G) | gnomAD v4 |
2 | g.32063808C>T | CA2658518958 | SPAST | c.-24C>T (n.-24C>T) | gnomAD v4 |
2 | g.32063809G>A | CA2658518960 | SPAST | c.-23G>A (n.-23G>A) | gnomAD v4 |
2 | g.32063809G>T | CA2658518959 | SPAST | c.-23G>T (n.-23G>T) | gnomAD v4 |
2 | g.32063810G>A | CA1600443 | SPAST | c.-22G>A (n.-22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063810G= | CA1242461545 | SPAST | c.-22G= (n.-22G=) | |
2 | g.32063810G>T | CA2658518961 | SPAST | c.-22G>T (n.-22G>T) | gnomAD v4 |
2 | g.32063811C= | CA1242461546 | SPAST | c.-21C= (n.-21C=) | |
2 | g.32063811C>G | CA1600444 | SPAST | c.-21C>G (n.-21C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063811C>T | CA1242461547 | SPAST | c.-21C>T (n.-21C>T) | dbSNP gnomAD v4 |
2 | g.32063812G>A | CA2658518962 | SPAST | c.-20G>A (n.-20G>A) | gnomAD v4 |
2 | g.32063813G>A | CA531746193 | SPAST | c.-19G>A (n.-19G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063813G= | CA1242461548 | SPAST | c.-19G= (n.-19G=) | |
2 | g.32063813G>T | CA2658518963 | SPAST | c.-19G>T (n.-19G>T) | gnomAD v4 |
2 | g.32063814C>A | CA2658518964 | SPAST | c.-18C>A (n.-18C>A) | gnomAD v4 |
2 | g.32063814C= | CA1242461549 | SPAST | c.-18C= (n.-18C=) | |
2 | g.32063814C>G | CA1600445 | SPAST | c.-18C>G (n.-18C>G) | dbSNP ExAC gnomAD v2 |
2 | g.32063814C>T | CA2658518965 | SPAST | c.-18C>T (n.-18C>T) | gnomAD v4 |
2 | g.32063815G>A | CA2658518966 | SPAST | c.-17G>A (n.-17G>A) | gnomAD v4 |
2 | g.32063815G>T | CA2658518967 | SPAST | c.-17G>T (n.-17G>T) | gnomAD v4 |
2 | g.32063816G>A | CA1600446 | SPAST | c.-16G>A (n.-16G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063816G= | CA1242461550 | SPAST | c.-16G= (n.-16G=) | |
2 | g.32063816G>T | CA2658518968 | SPAST | c.-16G>T (n.-16G>T) | gnomAD v4 |
2 | g.32063817C>G | CA2749388724 | SPAST | c.-15C>G (n.-15C>G) | |
2 | g.32063817C>T | CA2658518969 | SPAST | c.-15C>T (n.-15C>T) | gnomAD v4 |
2 | g.32063818A>G | CA2658518970 | SPAST | c.-14A>G (n.-14A>G) | gnomAD v4 |
2 | g.32063818_32063819delinsAG | CA1242461551 | SPAST | c.-14_-13delinsAG (n.-14_-13delinsAG) | |
2 | g.32063819del | CA1242461552 | SPAST | c.-13del (n.-13del) | dbSNP |
2 | g.32063819G>C | CA2658518971 | SPAST | c.-13G>C (n.-13G>C) | gnomAD v4 |
2 | g.32063819G= | CA1242461553 | SPAST | c.-13G= (n.-13G=) | |
2 | g.32063819G>T | CA531746195 | SPAST | c.-13G>T (n.-13G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063820T>A | CA1600447 | SPAST | c.-12T>A (n.-12T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063820T>G | CA2576929911 | SPAST | c.-12T>G (n.-12T>G) | gnomAD v4 |
2 | g.32063820T= | CA1242461554 | SPAST | c.-12T= (n.-12T=) | |
2 | g.32063820_32063822delinsTGA | CA1242461555 | SPAST | c.-12_-10delinsTGA (n.-12_-10delinsTGA) | |
2 | g.32063824_32063825del | CA767797061 | SPAST | c.-8_-7del (n.-8_-7del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063822A>G | CA2544044689 | SPAST | c.-10A>G (n.-10A>G) | gnomAD v4 |
2 | g.32063823G>A | CA1242461557 | SPAST | c.-9G>A (n.-9G>A) | dbSNP |
2 | g.32063823G= | CA1242461556 | SPAST | c.-9G= (n.-9G=) | |
2 | g.32063824A>G | CA2658518972 | SPAST | c.-8A>G (n.-8A>G) | gnomAD v4 |
2 | g.32063824A>T | CA2576929912 | SPAST | c.-8A>T (n.-8A>T) | |
2 | g.32063825G>A | CA1600448 | SPAST | c.-7G>A (n.-7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063825G>C | CA2658518973 | SPAST | c.-7G>C (n.-7G>C) | gnomAD v4 |
2 | g.32063825G= | CA1242461558 | SPAST | c.-7G= (n.-7G=) | |
2 | g.32063825G>T | CA2658518974 | SPAST | c.-7G>T (n.-7G>T) | gnomAD v4 |
2 | g.32063826C>T | CA2658518975 | SPAST | c.-6C>T (n.-6C>T) | gnomAD v4 |
2 | g.32063827T>A | CA2576929914 | SPAST | c.-5T>A (n.-5T>A) | gnomAD v4 |
2 | g.32063827T>C | CA2658518976 | SPAST | c.-5T>C (n.-5T>C) | gnomAD v4 |
2 | g.32063828G>A | CA767797065 | SPAST | c.-4G>A (n.-4G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063828G>C | CA2658518977 | SPAST | c.-4G>C (n.-4G>C) | gnomAD v4 |
2 | g.32063828G= | CA1242461559 | SPAST | c.-4G= (n.-4G=) | |
2 | g.32063828G>T | CA2658518978 | SPAST | c.-4G>T (n.-4G>T) | gnomAD v4 |
2 | g.32063829T>G | CA2658518979 | SPAST | c.-3T>G (n.-3T>G) | gnomAD v4 |
2 | g.32063830G>A | CA2658518980 | SPAST | c.-2G>A (n.-2G>A) | gnomAD v4 |
2 | g.32063830G>T | CA2658518981 | SPAST | c.-2G>T (n.-2G>T) | gnomAD v4 |
2 | g.32063831A= | CA1242461560 | SPAST | c.-1A= (n.-1A=) | |
2 | g.32063831A>G | CA1242461561 | SPAST | c.-1A>G (n.-1A>G) | dbSNP |
2 | g.32063832A>C | CA346601166 | SPAST | c.1A>C (p.Met1Leu) | |
2 | g.32063832A>G | CA346601167 | SPAST | c.1A>G (p.Met1Val) | ClinVar |
2 | g.32063832A>T | CA346601168 | SPAST | c.1A>T (p.Met1Leu) | |
2 | g.32063833T>A | CA346601169 | SPAST | c.2T>A (p.Met1Lys) | gnomAD v4 |
2 | g.32063833T>C | CA346601170 | SPAST | c.2T>C (p.Met1Thr) | gnomAD v4 |
2 | g.32063833T>G | CA346601171 | SPAST | c.2T>G (p.Met1Arg) | |
2 | g.32063834G>A | CA346601172 | SPAST | c.3G>A (p.Met1Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063834G>C | CA346601174 | SPAST | c.3G>C (p.Met1Ile) | ClinVar |
2 | g.32063834G= | CA1242461562 | SPAST | c.3G= (p.Met1=) | |
2 | g.32063834G>T | CA346601173 | SPAST | c.3G>T (p.Met1Ile) | gnomAD v4 |
2 | g.32063835A>C | CA346601175 | SPAST | c.4A>C (p.Asn2His) | |
2 | g.32063835A>G | CA346601176 | SPAST | c.4A>G (p.Asn2Asp) | |
2 | g.32063835A>T | CA346601177 | SPAST | c.4A>T (p.Asn2Tyr) | |
2 | g.32063836A= | CA1242461563 | SPAST | c.5A= (p.Asn2=) | |
2 | g.32063836A>C | CA346601178 | SPAST | c.5A>C (p.Asn2Thr) | |
2 | g.32063836A>G | CA346601179 | SPAST | c.5A>G (p.Asn2Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063836A>T | CA346601180 | SPAST | c.5A>T (p.Asn2Ile) | |
2 | g.32063836_32063838delinsATT | CA1242461564 | SPAST | c.5_7delinsATT (p.Asn2=) | |
2 | g.32063837T>A | CA346601181 | SPAST | c.6T>A (p.Asn2Lys) | |
2 | g.32063837T>C | CA425580686 | SPAST | c.6T>C (p.Asn2=) | |
2 | g.32063837T>G | CA346601182 | SPAST | c.6T>G (p.Asn2Lys) | |
2 | g.32063837_32063838del | CA658657013 | SPAST | c.6_7del (p.Pro4GlyfsTer?) | ClinVar dbSNP |
2 | g.32063838T>A | CA346601183 | SPAST | c.7T>A (p.Ser3Thr) | |
2 | g.32063838T>C | CA346601184 | SPAST | c.7T>C (p.Ser3Pro) | |
2 | g.32063838T>G | CA346601185 | SPAST | c.7T>G (p.Ser3Ala) | |
2 | g.32063839C>A | CA346601188 | SPAST | c.8C>A (p.Ser3Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063839C= | CA1242461565 | SPAST | c.8C= (p.Ser3=) | |
2 | g.32063839C>G | CA346601187 | SPAST | c.8C>G (p.Ser3Cys) | |
2 | g.32063839C>T | CA346601186 | SPAST | c.8C>T (p.Ser3Phe) | |
2 | g.32063840T>A | CA425580687 | SPAST | c.9T>A (p.Ser3=) | gnomAD v4 |
2 | g.32063840T>C | CA425580688 | SPAST | c.9T>C (p.Ser3=) | gnomAD v4 |
2 | g.32063840T>G | CA425580689 | SPAST | c.9T>G (p.Ser3=) | |
2 | g.32063841C>A | CA346601189 | SPAST | c.10C>A (p.Pro4Thr) | gnomAD v4 |
2 | g.32063841C= | CA1242461566 | SPAST | c.10C= (p.Pro4=) | |
2 | g.32063841C>G | CA346601190 | SPAST | c.10C>G (p.Pro4Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063841C>T | CA45201382 | SPAST | c.10C>T (p.Pro4Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063842C>A | CA346601191 | SPAST | c.11C>A (p.Pro4Gln) | gnomAD v4 |
2 | g.32063842C= | CA1242461567 | SPAST | c.11C= (p.Pro4=) | |
2 | g.32063842C>G | CA1600449 | SPAST | c.11C>G (p.Pro4Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063842C>T | CA346601192 | SPAST | c.11C>T (p.Pro4Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063843G>A | CA1600450 | SPAST | c.12G>A (p.Pro4=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063843G>C | CA425580690 | SPAST | c.12G>C (p.Pro4=) | gnomAD v4 |
2 | g.32063843G= | CA1242461568 | SPAST | c.12G= (p.Pro4=) | |
2 | g.32063843G>T | CA1600451 | SPAST | c.12G>T (p.Pro4=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063845del | CA2658518982 | SPAST | c.14del (p.Gly5ValfsTer?) | gnomAD v4 |
2 | g.32063844G>A | CA346601193 | SPAST | c.13G>A (p.Gly5Ser) | gnomAD v4 |
2 | g.32063844G>C | CA346601194 | SPAST | c.13G>C (p.Gly5Arg) | gnomAD v4 |
2 | g.32063844G>T | CA346601195 | SPAST | c.13G>T (p.Gly5Cys) | gnomAD v4 |
2 | g.32063845G>A | CA346601196 | SPAST | c.14G>A (p.Gly5Asp) | dbSNP gnomAD v4 |
2 | g.32063845G>C | CA346601197 | SPAST | c.14G>C (p.Gly5Ala) | |
2 | g.32063845G= | CA1242461569 | SPAST | c.14G= (p.Gly5=) | |
2 | g.32063845G>T | CA346601198 | SPAST | c.14G>T (p.Gly5Val) | |
2 | g.32063846T>A | CA425580691 | SPAST | c.15T>A (p.Gly5=) | |
2 | g.32063846T>C | CA425580692 | SPAST | c.15T>C (p.Gly5=) | |
2 | g.32063846T>G | CA1600452 | SPAST | c.15T>G (p.Gly5=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063846T= | CA1242461570 | SPAST | c.15T= (p.Gly5=) | |
2 | g.32063847G>A | CA346601199 | SPAST | c.16G>A (p.Gly6Arg) | |
2 | g.32063847G>C | CA346601201 | SPAST | c.16G>C (p.Gly6Arg) | |
2 | g.32063847G>T | CA346601200 | SPAST | c.16G>T (p.Gly6Ter) | ClinVar gnomAD v4 |
2 | g.32063848del | CA2658518983 | SPAST | c.17del (p.Gly6AspfsTer?) | gnomAD v4 |
2 | g.32063848G>A | CA1600453 | SPAST | c.17G>A (p.Gly6Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063848G>C | CA346601202 | SPAST | c.17G>C (p.Gly6Ala) | |
2 | g.32063848G= | CA1242461571 | SPAST | c.17G= (p.Gly6=) | |
2 | g.32063848G>T | CA346601203 | SPAST | c.17G>T (p.Gly6Val) | gnomAD v4 |
2 | g.32063849A>C | CA425580693 | SPAST | c.18A>C (p.Gly6=) | |
2 | g.32063849A>G | CA425580694 | SPAST | c.18A>G (p.Gly6=) | gnomAD v4 |
2 | g.32063849A>T | CA425580695 | SPAST | c.18A>T (p.Gly6=) | |
2 | g.32063850C>A | CA1600454 | SPAST | c.19C>A (p.Arg7=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063850C= | CA1242461572 | SPAST | c.19C= (p.Arg7=) | |
2 | g.32063850C>G | CA346601204 | SPAST | c.19C>G (p.Arg7Gly) | |
2 | g.32063850C>T | CA346601205 | SPAST | c.19C>T (p.Arg7Ter) | gnomAD v4 |
2 | g.32063851G>A | CA346601206 | SPAST | c.20G>A (p.Arg7Gln) | gnomAD v4 |
2 | g.32063851G>C | CA1600456 | SPAST | c.20G>C (p.Arg7Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063851G= | CA1242461573 | SPAST | c.20G= (p.Arg7=) | |
2 | g.32063851G>T | CA1600455 | SPAST | c.20G>T (p.Arg7Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063852A= | CA1242461574 | SPAST | c.21A= (p.Arg7=) | |
2 | g.32063852A>C | CA425580696 | SPAST | c.21A>C (p.Arg7=) | |
2 | g.32063852A>G | CA425580697 | SPAST | c.21A>G (p.Arg7=) | |
2 | g.32063852A>T | CA1600457 | SPAST | c.21A>T (p.Arg7=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063853G>A | CA346601208 | SPAST | c.22G>A (p.Gly8Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063853G>C | CA45201383 | SPAST | c.22G>C (p.Gly8Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063853G= | CA1242461575 | SPAST | c.22G= (p.Gly8=) | |
2 | g.32063853G>T | CA346601207 | SPAST | c.22G>T (p.Gly8Trp) | gnomAD v4 |
2 | g.32063854G>A | CA346601209 | SPAST | c.23G>A (p.Gly8Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063854G>C | CA346601210 | SPAST | c.23G>C (p.Gly8Ala) | |
2 | g.32063854G= | CA1242461576 | SPAST | c.23G= (p.Gly8=) | |
2 | g.32063854G>T | CA346601211 | SPAST | c.23G>T (p.Gly8Val) | |
2 | g.32063855G>A | CA1600458 | SPAST | c.24G>A (p.Gly8=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063855G>C | CA425580698 | SPAST | c.24G>C (p.Gly8=) | gnomAD v4 |
2 | g.32063855G= | CA1242461577 | SPAST | c.24G= (p.Gly8=) | |
2 | g.32063855G>T | CA425580699 | SPAST | c.24G>T (p.Gly8=) | gnomAD v4 |
2 | g.32063861_32063863del | CA2658519892 | SPAST | c.30_32del (p.Lys11del) | gnomAD v4 |
2 | g.32063856A>C | CA346601212 | SPAST | c.25A>C (p.Lys9Gln) | |
2 | g.32063856A>G | CA346601213 | SPAST | c.25A>G (p.Lys9Glu) | |
2 | g.32063856A>T | CA346601214 | SPAST | c.25A>T (p.Lys9Ter) | |
2 | g.32063857A= | CA1242461578 | SPAST | c.26A= (p.Lys9=) | |
2 | g.32063857A>C | CA346601215 | SPAST | c.26A>C (p.Lys9Thr) | |
2 | g.32063857A>G | CA346601216 | SPAST | c.26A>G (p.Lys9Arg) | ClinVar |
2 | g.32063857A>T | CA346601217 | SPAST | c.26A>T (p.Lys9Met) | |
2 | g.32063858G>A | CA425580700 | SPAST | c.27G>A (p.Lys9=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063858G>C | CA346601218 | SPAST | c.27G>C (p.Lys9Asn) | gnomAD v4 |
2 | g.32063858G= | CA1242461579 | SPAST | c.27G= (p.Lys9=) | |
2 | g.32063858G>T | CA346601219 | SPAST | c.27G>T (p.Lys9Asn) | gnomAD v4 |
2 | g.32063858dup | CA1139656818 | SPAST | c.27dup (p.Lys10GlufsTer?) | ClinVar dbSNP |
2 | g.32063859A>C | CA346601221 | SPAST | c.28A>C (p.Lys10Gln) | |
2 | g.32063859A>G | CA346601222 | SPAST | c.28A>G (p.Lys10Glu) | |
2 | g.32063859A>T | CA346601220 | SPAST | c.28A>T (p.Lys10Ter) | |
2 | g.32063860A>C | CA346601223 | SPAST | c.29A>C (p.Lys10Thr) | |
2 | g.32063860A>G | CA346601224 | SPAST | c.29A>G (p.Lys10Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.32063860A>T | CA346601225 | SPAST | c.29A>T (p.Lys10Met) | |
2 | g.32063861G>A | CA1600459 | SPAST | c.30G>A (p.Lys10=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063861G>C | CA346601226 | SPAST | c.30G>C (p.Lys10Asn) | gnomAD v4 |
2 | g.32063861G= | CA1242461580 | SPAST | c.30G= (p.Lys10=) | |
2 | g.32063861G>T | CA346601227 | SPAST | c.30G>T (p.Lys10Asn) | gnomAD v4 |
2 | g.32063862A>C | CA346601230 | SPAST | c.31A>C (p.Lys11Gln) | |
2 | g.32063862A>G | CA346601228 | SPAST | c.31A>G (p.Lys11Glu) | gnomAD v4 |
2 | g.32063862A>T | CA346601229 | SPAST | c.31A>T (p.Lys11Ter) | |
2 | g.32063863A= | CA1242461581 | SPAST | c.32A= (p.Lys11=) | |
2 | g.32063863A>C | CA346601231 | SPAST | c.32A>C (p.Lys11Thr) | |
2 | g.32063863A>G | CA346601232 | SPAST | c.32A>G (p.Lys11Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32063863A>T | CA346601233 | SPAST | c.32A>T (p.Lys11Ile) | |
2 | g.32063864A>C | CA346601234 | SPAST | c.33A>C (p.Lys11Asn) | |
2 | g.32063864A>G | CA425580701 | SPAST | c.33A>G (p.Lys11=) | gnomAD v4 |
2 | g.32063864A>T | CA346601235 | SPAST | c.33A>T (p.Lys11Asn) | |
2 | g.32063865G>A | CA346601236 | SPAST | c.34G>A (p.Gly12Ser) | ClinVar gnomAD v4 |
2 | g.32063865G>C | CA346601238 | SPAST | c.34G>C (p.Gly12Arg) | |
2 | g.32063865G>T | CA346601237 | SPAST | c.34G>T (p.Gly12Cys) | gnomAD v4 |
2 | g.32063866G>A | CA346601239 | SPAST | c.35G>A (p.Gly12Asp) | gnomAD v4 |
2 | g.32063866G>C | CA346601241 | SPAST | c.35G>C (p.Gly12Ala) | |
2 | g.32063866G>T | CA346601240 | SPAST | c.35G>T (p.Gly12Val) | gnomAD v4 |
2 | g.32063867C>A | CA425580702 | SPAST | c.36C>A (p.Gly12=) | gnomAD v4 |
2 | g.32063867C= | CA1242461582 | SPAST | c.36C= (p.Gly12=) | |
2 | g.32063867C>G | CA425580703 | SPAST | c.36C>G (p.Gly12=) | |
2 | g.32063867C>T | CA425580704 | SPAST | c.36C>T (p.Gly12=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063868T>A | CA1600460 | SPAST | c.37T>A (p.Ser13Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32063868T>C | CA1600461 | SPAST | c.37T>C (p.Ser13Pro) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.32063868T>G | CA346601242 | SPAST | c.37T>G (p.Ser13Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32063868T= | CA1242461583 | SPAST | c.37T= (p.Ser13=) | |
2 | g.32063869C>A | CA346601243 | SPAST | c.38C>A (p.Ser13Tyr) | gnomAD v4 |
2 | g.32063869C>G | CA346601245 | SPAST | c.38C>G (p.Ser13Cys) | |
2 | g.32063869C>T | CA346601244 | SPAST | c.38C>T (p.Ser13Phe) | |
2 | g.32063870C>A | CA425580705 | SPAST | c.39C>A (p.Ser13=) | |
2 | g.32063870C= | CA1242461584 | SPAST | c.39C= (p.Ser13=) | |
2 | g.32063870C>G | CA425580706 | SPAST | c.39C>G (p.Ser13=) | |
2 | g.32063870C>T | CA1600462 | SPAST | c.39C>T (p.Ser13=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32063871G>A | CA346601246 | SPAST | c.40G>A (p.Gly14Ser) | ClinVar gnomAD v4 |
2 | g.32063871G>C | CA346601247 | SPAST | c.40G>C (p.Gly14Arg) | |
2 | g.32063871G>T | CA346601248 | SPAST | c.40G>T (p.Gly14Cys) | gnomAD v4 |
2 | g.32063872G>A | CA346601249 | SPAST | c.41G>A (p.Gly14Asp) | gnomAD v4 |
2 | g.32063872G>C | CA346601250 | SPAST | c.41G>C (p.Gly14Ala) | |
2 | g.32063872G>T | CA346601251 | SPAST | c.41G>T (p.Gly14Val) | |
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) |