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.32064127_32064444del | CA2573134600 | SPAST | c.296_415+198del c.180_299+198del c.166_285+198del c.38_157+198del c.172_291+198del c.137_256+198del c.130_249+198del | ClinVar dbSNP |
2 | g.32064247G>A | CA346602523 | SPAST | c.415+1G>A (n.415+1G>A) c.299+1G>A c.285+1G>A c.157+1G>A (n.157+1G>A) c.291+1G>A c.256+1G>A (n.256+1G>A) c.36+1G>A c.249+1G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064247G>C | CA346602524 | SPAST | c.415+1G>C (n.415+1G>C) c.299+1G>C c.285+1G>C c.157+1G>C (n.157+1G>C) c.291+1G>C c.256+1G>C (n.256+1G>C) c.36+1G>C c.249+1G>C | ClinVar |
2 | g.32064247G= | CA1242461835 | SPAST | c.415+1G= (n.415+1G=) c.299+1G= c.285+1G= c.157+1G= (n.157+1G=) c.291+1G= c.256+1G= (n.256+1G=) c.36+1G= c.249+1G= | |
2 | g.32064247G>T | CA16604220 | SPAST | c.415+1G>T (n.415+1G>T) c.299+1G>T c.285+1G>T c.157+1G>T (n.157+1G>T) c.291+1G>T c.256+1G>T (n.256+1G>T) c.36+1G>T c.249+1G>T | ClinVar dbSNP gnomAD v4 |
2 | g.32064248T>A | CA346602525 | SPAST | c.415+2T>A (n.415+2T>A) c.299+2T>A c.285+2T>A c.157+2T>A (n.157+2T>A) c.291+2T>A c.256+2T>A (n.256+2T>A) c.36+2T>A c.249+2T>A | gnomAD v4 |
2 | g.32064248T>C | CA346602526 | SPAST | c.415+2T>C (n.415+2T>C) c.299+2T>C c.285+2T>C c.157+2T>C (n.157+2T>C) c.291+2T>C c.256+2T>C (n.256+2T>C) c.36+2T>C c.249+2T>C | gnomAD v4 |
2 | g.32064248T>G | CA346602527 | SPAST | c.415+2T>G (n.415+2T>G) c.299+2T>G c.285+2T>G c.157+2T>G (n.157+2T>G) c.291+2T>G c.256+2T>G (n.256+2T>G) c.36+2T>G c.249+2T>G | gnomAD v4 |
2 | g.32064249A>C | CA2658519904 | SPAST | c.415+3A>C (n.415+3A>C) c.299+3A>C c.285+3A>C c.157+3A>C (n.157+3A>C) c.291+3A>C c.256+3A>C (n.256+3A>C) c.36+3A>C c.249+3A>C | gnomAD v4 |
2 | g.32064249A>G | CA2658519905 | SPAST | c.415+3A>G (n.415+3A>G) c.299+3A>G c.285+3A>G c.157+3A>G (n.157+3A>G) c.291+3A>G c.256+3A>G (n.256+3A>G) c.36+3A>G c.249+3A>G | gnomAD v4 |
2 | g.32064249A>T | CA2658519906 | SPAST | c.415+3A>T (n.415+3A>T) c.299+3A>T c.285+3A>T c.157+3A>T (n.157+3A>T) c.291+3A>T c.256+3A>T (n.256+3A>T) c.36+3A>T c.249+3A>T | gnomAD v4 |
2 | g.32064250A>C | CA2658519909 | SPAST | c.415+4A>C (n.415+4A>C) c.299+4A>C c.285+4A>C c.157+4A>C (n.157+4A>C) c.291+4A>C c.256+4A>C (n.256+4A>C) c.36+4A>C c.249+4A>C | gnomAD v4 |
2 | g.32064250A>G | CA2658519907 | SPAST | c.415+4A>G (n.415+4A>G) c.299+4A>G c.285+4A>G c.157+4A>G (n.157+4A>G) c.291+4A>G c.256+4A>G (n.256+4A>G) c.36+4A>G c.249+4A>G | gnomAD v4 |
2 | g.32064250A>T | CA2658519908 | SPAST | c.415+4A>T (n.415+4A>T) c.299+4A>T c.285+4A>T c.157+4A>T (n.157+4A>T) c.291+4A>T c.256+4A>T (n.256+4A>T) c.36+4A>T c.249+4A>T | gnomAD v4 |
2 | g.32064251C>A | CA2658519910 | SPAST | c.415+5C>A (n.415+5C>A) c.299+5C>A c.285+5C>A c.157+5C>A (n.157+5C>A) c.291+5C>A c.256+5C>A (n.256+5C>A) c.36+5C>A c.249+5C>A | gnomAD v4 |
2 | g.32064251C>T | CA2658519911 | SPAST | c.415+5C>T (n.415+5C>T) c.299+5C>T c.285+5C>T c.157+5C>T (n.157+5C>T) c.291+5C>T c.256+5C>T (n.256+5C>T) c.36+5C>T c.249+5C>T | gnomAD v4 |
2 | g.32064252T>A | CA2658519913 | SPAST | c.415+6T>A (n.415+6T>A) c.299+6T>A c.285+6T>A c.157+6T>A (n.157+6T>A) c.291+6T>A c.256+6T>A (n.256+6T>A) c.36+6T>A c.249+6T>A | gnomAD v4 |
2 | g.32064252T>C | CA1242461836 | SPAST | c.415+6T>C (n.415+6T>C) c.299+6T>C c.285+6T>C c.157+6T>C (n.157+6T>C) c.291+6T>C c.256+6T>C (n.256+6T>C) c.36+6T>C c.249+6T>C | dbSNP gnomAD v4 |
2 | g.32064252T>G | CA2658519914 | SPAST | c.415+6T>G (n.415+6T>G) c.299+6T>G c.285+6T>G c.157+6T>G (n.157+6T>G) c.291+6T>G c.256+6T>G (n.256+6T>G) c.36+6T>G c.249+6T>G | gnomAD v4 |
2 | g.32064252T= | CA1242461837 | SPAST | c.415+6T= (n.415+6T=) c.299+6T= c.285+6T= c.157+6T= (n.157+6T=) c.291+6T= c.256+6T= (n.256+6T=) c.36+6T= c.249+6T= | |
2 | g.32064252_32064264del | CA2658519912 | SPAST | c.415+6_415+18del (n.415+6_415+18del) c.299+6_299+18del c.285+6_285+18del c.157+6_157+18del (n.157+6_157+18del) c.291+6_291+18del c.256+6_256+18del (n.256+6_256+18del) c.36+6_36+18del c.249+6_249+18del | dbSNP gnomAD v4 |
2 | g.32064253del | CA2658519915 | SPAST | c.415+7del (n.415+7del) c.299+7del c.285+7del c.157+7del (n.157+7del) c.291+7del c.256+7del (n.256+7del) c.36+7del c.249+7del | gnomAD v4 |
2 | g.32064253A= | CA1242461838 | SPAST | c.415+7A= (n.415+7A=) c.299+7A= c.285+7A= c.157+7A= (n.157+7A=) c.291+7A= c.256+7A= (n.256+7A=) c.36+7A= c.249+7A= | |
2 | g.32064253A>C | CA2658519916 | SPAST | c.415+7A>C (n.415+7A>C) c.299+7A>C c.285+7A>C c.157+7A>C (n.157+7A>C) c.291+7A>C c.256+7A>C (n.256+7A>C) c.36+7A>C c.249+7A>C | gnomAD v4 |
2 | g.32064253A>G | CA531769480 | SPAST | c.415+7A>G (n.415+7A>G) c.299+7A>G c.285+7A>G c.157+7A>G (n.157+7A>G) c.291+7A>G c.256+7A>G (n.256+7A>G) c.36+7A>G c.249+7A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064253A>T | CA2658519917 | SPAST | c.415+7A>T (n.415+7A>T) c.299+7A>T c.285+7A>T c.157+7A>T (n.157+7A>T) c.291+7A>T c.256+7A>T (n.256+7A>T) c.36+7A>T c.249+7A>T | gnomAD v4 |
2 | g.32064253_32064259del | CA2749388910 | SPAST | c.415+7_415+13del (n.415+7_415+13del) c.299+7_299+13del c.285+7_285+13del c.157+7_157+13del (n.157+7_157+13del) c.291+7_291+13del c.256+7_256+13del (n.256+7_256+13del) c.36+7_36+13del c.249+7_249+13del | |
2 | g.32064260_32064272del | CA2576929941 | SPAST | c.415+14_415+26del (n.415+14_415+26del) c.299+14_299+26del c.285+14_285+26del c.157+14_157+26del (n.157+14_157+26del) c.291+14_291+26del c.256+14_256+26del (n.256+14_256+26del) c.36+14_36+26del c.249+14_249+26del | gnomAD v4 |
2 | g.32064254G>A | CA2658519919 | SPAST | c.415+8G>A (n.415+8G>A) c.299+8G>A c.285+8G>A c.157+8G>A (n.157+8G>A) c.291+8G>A c.256+8G>A (n.256+8G>A) c.36+8G>A c.249+8G>A | gnomAD v4 |
2 | g.32064254G>T | CA2658519918 | SPAST | c.415+8G>T (n.415+8G>T) c.299+8G>T c.285+8G>T c.157+8G>T (n.157+8G>T) c.291+8G>T c.256+8G>T (n.256+8G>T) c.36+8G>T c.249+8G>T | gnomAD v4 |
2 | g.32064258dup | CA2658519920 | SPAST | c.415+12dup (n.415+12dup) c.299+12dup c.285+12dup c.157+12dup (n.157+12dup) c.291+12dup c.256+12dup (n.256+12dup) c.36+12dup c.249+12dup | gnomAD v4 |
2 | g.32064258del | CA531769481 | SPAST | c.415+12del (n.415+12del) c.299+12del c.285+12del c.157+12del (n.157+12del) c.291+12del c.256+12del (n.256+12del) c.36+12del c.249+12del | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064259_32064265del | CA2658519921 | SPAST | c.415+13_415+19del (n.415+13_415+19del) c.299+13_299+19del c.285+13_285+19del c.157+13_157+19del (n.157+13_157+19del) c.291+13_291+19del c.256+13_256+19del (n.256+13_256+19del) c.36+13_36+19del c.249+13_249+19del | gnomAD v4 |
2 | g.32064255G>A | CA2658519922 | SPAST | c.415+9G>A (n.415+9G>A) c.299+9G>A c.285+9G>A c.157+9G>A (n.157+9G>A) c.291+9G>A c.256+9G>A (n.256+9G>A) c.36+9G>A c.249+9G>A | gnomAD v4 |
2 | g.32064255G>T | CA2658519923 | SPAST | c.415+9G>T (n.415+9G>T) c.299+9G>T c.285+9G>T c.157+9G>T (n.157+9G>T) c.291+9G>T c.256+9G>T (n.256+9G>T) c.36+9G>T c.249+9G>T | gnomAD v4 |
2 | g.32064256G>A | CA767739250 | SPAST | c.415+10G>A (n.415+10G>A) c.299+10G>A c.285+10G>A c.157+10G>A (n.157+10G>A) c.291+10G>A c.256+10G>A (n.256+10G>A) c.36+10G>A c.249+10G>A | dbSNP gnomAD v4 |
2 | g.32064256G>C | CA1028990124 | SPAST | c.415+10G>C (n.415+10G>C) c.299+10G>C c.285+10G>C c.157+10G>C (n.157+10G>C) c.291+10G>C c.256+10G>C (n.256+10G>C) c.36+10G>C c.249+10G>C | gnomAD v3 gnomAD v4 |
2 | g.32064256G= | CA1242461839 | SPAST | c.415+10G= (n.415+10G=) c.299+10G= c.285+10G= c.157+10G= (n.157+10G=) c.291+10G= c.256+10G= (n.256+10G=) c.36+10G= c.249+10G= | |
2 | g.32064256G>T | CA2573051930 | SPAST | c.415+10G>T (n.415+10G>T) c.299+10G>T c.285+10G>T c.157+10G>T (n.157+10G>T) c.291+10G>T c.256+10G>T (n.256+10G>T) c.36+10G>T c.249+10G>T | ClinVar dbSNP gnomAD v4 |
2 | g.32064259_32064263del | CA2658519924 | SPAST | c.415+13_415+17del (n.415+13_415+17del) c.299+13_299+17del c.285+13_285+17del c.157+13_157+17del (n.157+13_157+17del) c.291+13_291+17del c.256+13_256+17del (n.256+13_256+17del) c.36+13_36+17del c.249+13_249+17del | gnomAD v4 |
2 | g.32064257G>A | CA2658519926 | SPAST | c.415+11G>A (n.415+11G>A) c.299+11G>A c.285+11G>A c.157+11G>A (n.157+11G>A) c.291+11G>A c.256+11G>A (n.256+11G>A) c.36+11G>A c.249+11G>A | gnomAD v4 |
2 | g.32064257G>C | CA2576929942 | SPAST | c.415+11G>C (n.415+11G>C) c.299+11G>C c.285+11G>C c.157+11G>C (n.157+11G>C) c.291+11G>C c.256+11G>C (n.256+11G>C) c.36+11G>C c.249+11G>C | gnomAD v4 |
2 | g.32064257G>T | CA2658519925 | SPAST | c.415+11G>T (n.415+11G>T) c.299+11G>T c.285+11G>T c.157+11G>T (n.157+11G>T) c.291+11G>T c.256+11G>T (n.256+11G>T) c.36+11G>T c.249+11G>T | gnomAD v4 |
2 | g.32064258G>A | CA1600565 | SPAST | c.415+12G>A (n.415+12G>A) c.299+12G>A c.285+12G>A c.157+12G>A (n.157+12G>A) c.291+12G>A c.256+12G>A (n.256+12G>A) c.36+12G>A c.249+12G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064258G>C | CA1600564 | SPAST | c.415+12G>C (n.415+12G>C) c.299+12G>C c.285+12G>C c.157+12G>C (n.157+12G>C) c.291+12G>C c.256+12G>C (n.256+12G>C) c.36+12G>C c.249+12G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.32064258G= | CA1242461840 | SPAST | c.415+12G= (n.415+12G=) c.299+12G= c.285+12G= c.157+12G= (n.157+12G=) c.291+12G= c.256+12G= (n.256+12G=) c.36+12G= c.249+12G= | |
2 | g.32064258G>T | CA2658519928 | SPAST | c.415+12G>T (n.415+12G>T) c.299+12G>T c.285+12G>T c.157+12G>T (n.157+12G>T) c.291+12G>T c.256+12G>T (n.256+12G>T) c.36+12G>T c.249+12G>T | gnomAD v4 |
2 | g.32064259_32064293del | CA2658519927 | SPAST | c.415+13_415+47del (n.415+13_415+47del) c.299+13_299+47del c.285+13_285+47del c.157+13_157+47del (n.157+13_157+47del) c.291+13_291+47del c.256+13_256+47del (n.256+13_256+47del) c.36+13_36+47del c.249+13_249+47del | gnomAD v4 |