| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.70936291_70945268del | CA915943371 | SMN1 | c.82-2548_723+515del c.82-2548_628-798del c.82-2548_522+515del c.82-2548_427-798del | ClinVar |
| 5 | g.70938845G>A | CA254688 | SMN1 | c.88G>A (p.Asp30Asn) | ClinVar dbSNP |
| 5 | g.70938845G>C | CA360091782 | SMN1 | c.88G>C (p.Asp30His) | |
| 5 | g.70938845G= | CA1554171468 | SMN1 | c.88G= (p.Asp30=) | |
| 5 | g.70938845G>T | CA360091785 | SMN1 | c.88G>T (p.Asp30Tyr) | |
| 5 | g.70938846A>C | CA360091790 | SMN1 | c.89A>C (p.Asp30Ala) | |
| 5 | g.70938846A>G | CA360091792 | SMN1 | c.89A>G (p.Asp30Gly) | |
| 5 | g.70938846A>T | CA360091794 | SMN1 | c.89A>T (p.Asp30Val) | |
| 5 | g.70938847T>A | CA360091798 | SMN1 | c.90T>A (p.Asp30Glu) | |
| 5 | g.70938847T>C | CA444963743 | SMN1 | c.90T>C (p.Asp30=) | |
| 5 | g.70938847T>G | CA360091800 | SMN1 | c.90T>G (p.Asp30Glu) | |
| 5 | g.70938848dup | CA2695204538 | SMN1 | c.91dup (p.Ser31PhefsTer2) | |
| 5 | g.70938848T>A | CA360091804 | SMN1 | c.91T>A (p.Ser31Thr) | |
| 5 | g.70938848T>C | CA360091809 | SMN1 | c.91T>C (p.Ser31Pro) | |
| 5 | g.70938848T>G | CA360091806 | SMN1 | c.91T>G (p.Ser31Ala) | |
| 5 | g.70938848T= | CA1554171469 | SMN1 | c.91T= (p.Ser31=) | |
| 5 | g.70938849C>A | CA360091812 | SMN1 | c.92C>A (p.Ser31Tyr) | |
| 5 | g.70938849C>G | CA360091815 | SMN1 | c.92C>G (p.Ser31Cys) | |
| 5 | g.70938849C>T | CA360091817 | SMN1 | c.92C>T (p.Ser31Phe) | |
| 5 | g.70938850_70938853dup | CA658657450 | SMN1 | c.93_96dup (p.Ile33Ter) | ClinVar dbSNP |
| 5 | g.70938850T>A | CA444963760 | SMN1 | c.93T>A (p.Ser31=) | |
| 5 | g.70938850T>C | CA444963764 | SMN1 | c.93T>C (p.Ser31=) | |
| 5 | g.70938850T>G | CA444963765 | SMN1 | c.93T>G (p.Ser31=) | |
| 5 | g.70938851G>A | CA360091822 | SMN1 | c.94G>A (p.Asp32Asn) | |
| 5 | g.70938851G>C | CA360091824 | SMN1 | c.94G>C (p.Asp32His) | |
| 5 | g.70938851G>T | CA360091827 | SMN1 | c.94G>T (p.Asp32Tyr) | |
| 5 | g.70938852A>C | CA360091835 | SMN1 | c.95A>C (p.Asp32Ala) | |
| 5 | g.70938852A>G | CA360091831 | SMN1 | c.95A>G (p.Asp32Gly) | |
| 5 | g.70938852A>T | CA360091834 | SMN1 | c.95A>T (p.Asp32Val) | |
| 5 | g.70938853C>A | CA360091841 | SMN1 | c.96C>A (p.Asp32Glu) | |
| 5 | g.70938853C>G | CA360091844 | SMN1 | c.96C>G (p.Asp32Glu) | |
| 5 | g.70938853C>T | CA444963783 | SMN1 | c.96C>T (p.Asp32=) | |
| 5 | g.70938854A>C | CA360091847 | SMN1 | c.97A>C (p.Ile33Leu) | |
| 5 | g.70938854A>G | CA360091850 | SMN1 | c.97A>G (p.Ile33Val) | |
| 5 | g.70938854A>T | CA360091853 | SMN1 | c.97A>T (p.Ile33Phe) | |
| 5 | g.70938855T>A | CA360091859 | SMN1 | c.98T>A (p.Ile33Asn) | |
| 5 | g.70938855T>C | CA360091865 | SMN1 | c.98T>C (p.Ile33Thr) | |
| 5 | g.70938855T>G | CA360091861 | SMN1 | c.98T>G (p.Ile33Ser) | |
| 5 | g.70938857del | CA2695204539 | SMN1 | c.100del (p.Trp34GlyfsTer6) | |
| 5 | g.70938856T>A | CA444963811 | SMN1 | c.99T>A (p.Ile33=) | |
| 5 | g.70938856T>C | CA444963805 | SMN1 | c.99T>C (p.Ile33=) | |
| 5 | g.70938856T>G | CA360091869 | SMN1 | c.99T>G (p.Ile33Met) | |
| 5 | g.70938857T>A | CA360091874 | SMN1 | c.100T>A (p.Trp34Arg) | |
| 5 | g.70938857T>C | CA360091877 | SMN1 | c.100T>C (p.Trp34Arg) | |
| 5 | g.70938857T>G | CA360091880 | SMN1 | c.100T>G (p.Trp34Gly) | |
| 5 | g.70938858G>A | CA360091884 | SMN1 | c.101G>A (p.Trp34Ter) | |
| 5 | g.70938858G>C | CA360091886 | SMN1 | c.101G>C (p.Trp34Ser) | |
| 5 | g.70938858G>T | CA360091895 | SMN1 | c.101G>T (p.Trp34Leu) | |
| 5 | g.70938859G>A | CA360091900 | SMN1 | c.102G>A (p.Trp34Ter) | |
| 5 | g.70938859G>C | CA360091903 | SMN1 | c.102G>C (p.Trp34Cys) |