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.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 |