| 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.70938837A>C | CA360091709 | SMN1 | c.82-2A>C (n.82-2A>C) | |
| 5 | g.70938837A>G | CA360091712 | SMN1 | c.82-2A>G (n.82-2A>G) | |
| 5 | g.70938837A>T | CA360091714 | SMN1 | c.82-2A>T (n.82-2A>T) | |
| 5 | g.70938838G>A | CA360091717 | SMN1 | c.82-1G>A (n.82-1G>A) | |
| 5 | g.70938838G>C | CA360091721 | SMN1 | c.82-1G>C (n.82-1G>C) | |
| 5 | g.70938838G>T | CA360091724 | SMN1 | c.82-1G>T (n.82-1G>T) | |
| 5 | g.70938839A>C | CA360091734 | SMN1 | c.82A>C (p.Ser28Arg) | |
| 5 | g.70938839A>G | CA360091727 | SMN1 | c.82A>G (p.Ser28Gly) | |
| 5 | g.70938839A>T | CA360091731 | SMN1 | c.82A>T (p.Ser28Cys) | |
| 5 | g.70938840G>A | CA360091739 | SMN1 | c.83G>A (p.Ser28Asn) | |
| 5 | g.70938840G>C | CA360091742 | SMN1 | c.83G>C (p.Ser28Thr) | |
| 5 | g.70938840G>T | CA360091745 | SMN1 | c.83G>T (p.Ser28Ile) | |
| 5 | g.70938841C>A | CA360091749 | SMN1 | c.84C>A (p.Ser28Arg) | |
| 5 | g.70938841C= | CA1554171467 | SMN1 | c.84C= (p.Ser28=) | |
| 5 | g.70938841C>G | CA360091752 | SMN1 | c.84C>G (p.Ser28Arg) | |
| 5 | g.70938841C>T | CA444963683 | SMN1 | c.84C>T (p.Ser28=) | ClinVar dbSNP |
| 5 | g.70938842G>A | CA360091761 | SMN1 | c.85G>A (p.Asp29Asn) | |
| 5 | g.70938842G>C | CA360091756 | SMN1 | c.85G>C (p.Asp29His) | |
| 5 | g.70938842G>T | CA360091759 | SMN1 | c.85G>T (p.Asp29Tyr) | |
| 5 | g.70938843A>C | CA360091765 | SMN1 | c.86A>C (p.Asp29Ala) | |
| 5 | g.70938843A>G | CA360091767 | SMN1 | c.86A>G (p.Asp29Gly) | |
| 5 | g.70938843A>T | CA360091769 | SMN1 | c.86A>T (p.Asp29Val) | |
| 5 | g.70938844T>A | CA360091773 | SMN1 | c.87T>A (p.Asp29Glu) | |
| 5 | g.70938844T>C | CA444963708 | SMN1 | c.87T>C (p.Asp29=) | |
| 5 | g.70938844T>G | CA360091776 | SMN1 | c.87T>G (p.Asp29Glu) | |
| 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) |