| 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.70942416C>A | CA360093883 | SMN1 | c.332C>A (p.Ala111Asp) c.274-302C>A (n.274-302C>A) | |
| 5 | g.70942416C= | CA1554171491 | SMN1 | c.332C= (p.Ala111=) c.274-302C= (n.274-302C=) | |
| 5 | g.70942416C>G | CA254692 | SMN1 | c.332C>G (p.Ala111Gly) c.274-302C>G (n.274-302C>G) | ClinVar dbSNP |
| 5 | g.70942416C>T | CA360093888 | SMN1 | c.332C>T (p.Ala111Val) c.274-302C>T (n.274-302C>T) | |
| 5 | g.70942417T>A | CA444966393 | SMN1 | c.333T>A (p.Ala111=) c.274-301T>A (n.274-301T>A) | |
| 5 | g.70942417T>C | CA444966396 | SMN1 | c.333T>C (p.Ala111=) c.274-301T>C (n.274-301T>C) | |
| 5 | g.70942417T>G | CA444966400 | SMN1 | c.333T>G (p.Ala111=) c.274-301T>G (n.274-301T>G) | |
| 5 | g.70942418A>C | CA360093892 | SMN1 | c.334A>C (p.Thr112Pro) c.274-300A>C (n.274-300A>C) | |
| 5 | g.70942418A>G | CA360093897 | SMN1 | c.334A>G (p.Thr112Ala) c.274-300A>G (n.274-300A>G) | |
| 5 | g.70942418A>T | CA360093894 | SMN1 | c.334A>T (p.Thr112Ser) c.274-300A>T (n.274-300A>T) | |
| 5 | g.70942419C>A | CA360093900 | SMN1 | c.335C>A (p.Thr112Asn) c.274-299C>A (n.274-299C>A) | |
| 5 | g.70942419C>G | CA360093903 | SMN1 | c.335C>G (p.Thr112Ser) c.274-299C>G (n.274-299C>G) | |
| 5 | g.70942419C>T | CA360093902 | SMN1 | c.335C>T (p.Thr112Ile) c.274-299C>T (n.274-299C>T) | |
| 5 | g.70942420C>A | CA444966421 | SMN1 | c.336C>A (p.Thr112=) c.274-298C>A (n.274-298C>A) | |
| 5 | g.70942420C>G | CA444966424 | SMN1 | c.336C>G (p.Thr112=) c.274-298C>G (n.274-298C>G) | |
| 5 | g.70942420C>T | CA444966427 | SMN1 | c.336C>T (p.Thr112=) c.274-298C>T (n.274-298C>T) | |
| 5 | g.70942421A>C | CA360093906 | SMN1 | c.337A>C (p.Ile113Leu) c.274-297A>C (n.274-297A>C) | |
| 5 | g.70942421A>G | CA360093909 | SMN1 | c.337A>G (p.Ile113Val) c.274-297A>G (n.274-297A>G) | |
| 5 | g.70942421A>T | CA360093911 | SMN1 | c.337A>T (p.Ile113Phe) c.274-297A>T (n.274-297A>T) | |
| 5 | g.70942422T>A | CA360093914 | SMN1 | c.338T>A (p.Ile113Asn) c.274-296T>A (n.274-296T>A) | |
| 5 | g.70942422T>C | CA360093915 | SMN1 | c.338T>C (p.Ile113Thr) c.274-296T>C (n.274-296T>C) | |
| 5 | g.70942422T>G | CA360093918 | SMN1 | c.338T>G (p.Ile113Ser) c.274-296T>G (n.274-296T>G) | |
| 5 | g.70942423T>A | CA444966444 | SMN1 | c.339T>A (p.Ile113=) c.274-295T>A (n.274-295T>A) | |
| 5 | g.70942423T>C | CA444966447 | SMN1 | c.339T>C (p.Ile113=) c.274-295T>C (n.274-295T>C) | |
| 5 | g.70942423T>G | CA360093920 | SMN1 | c.339T>G (p.Ile113Met) c.274-295T>G (n.274-295T>G) | |
| 5 | g.70942424G>A | CA360093923 | SMN1 | c.340G>A (p.Ala114Thr) c.274-294G>A (n.274-294G>A) | |
| 5 | g.70942424G>C | CA360093925 | SMN1 | c.340G>C (p.Ala114Pro) c.274-294G>C (n.274-294G>C) | |
| 5 | g.70942424G>T | CA360093928 | SMN1 | c.340G>T (p.Ala114Ser) c.274-294G>T (n.274-294G>T) | |
| 5 | g.70942425C>A | CA360093931 | SMN1 | c.341C>A (p.Ala114Asp) c.274-293C>A (n.274-293C>A) | |
| 5 | g.70942425C>G | CA360093933 | SMN1 | c.341C>G (p.Ala114Gly) c.274-293C>G (n.274-293C>G) | |
| 5 | g.70942425C>T | CA360093935 | SMN1 | c.341C>T (p.Ala114Val) c.274-293C>T (n.274-293C>T) | |
| 5 | g.70942426T>A | CA444966474 | SMN1 | c.342T>A (p.Ala114=) c.274-292T>A (n.274-292T>A) | |
| 5 | g.70942426T>C | CA444966471 | SMN1 | c.342T>C (p.Ala114=) c.274-292T>C (n.274-292T>C) | |
| 5 | g.70942426T>G | CA444966468 | SMN1 | c.342T>G (p.Ala114=) c.274-292T>G (n.274-292T>G) | |
| 5 | g.70942427T>A | CA360093939 | SMN1 | c.343T>A (p.Ser115Thr) c.274-291T>A (n.274-291T>A) | |
| 5 | g.70942427T>C | CA360093942 | SMN1 | c.343T>C (p.Ser115Pro) c.274-291T>C (n.274-291T>C) | |
| 5 | g.70942427T>G | CA360093941 | SMN1 | c.343T>G (p.Ser115Ala) c.274-291T>G (n.274-291T>G) | |
| 5 | g.70942428C>A | CA360093945 | SMN1 | c.344C>A (p.Ser115Ter) c.274-290C>A (n.274-290C>A) | |
| 5 | g.70942428C>G | CA360093947 | SMN1 | c.344C>G (p.Ser115Ter) c.274-290C>G (n.274-290C>G) | |
| 5 | g.70942428C>T | CA360093949 | SMN1 | c.344C>T (p.Ser115Leu) c.274-290C>T (n.274-290C>T) | |
| 5 | g.70942429A>C | CA444966501 | SMN1 | c.345A>C (p.Ser115=) c.274-289A>C (n.274-289A>C) | |
| 5 | g.70942429A>G | CA444966505 | SMN1 | c.345A>G (p.Ser115=) c.274-289A>G (n.274-289A>G) | |
| 5 | g.70942429A>T | CA444966508 | SMN1 | c.345A>T (p.Ser115=) c.274-289A>T (n.274-289A>T) | |
| 5 | g.70942430A= | CA1554171492 | SMN1 | c.346A= (p.Ile116=) c.274-288A= (n.274-288A=) | |
| 5 | g.70942430A>C | CA360093952 | SMN1 | c.346A>C (p.Ile116Leu) c.274-288A>C (n.274-288A>C) | |
| 5 | g.70942430A>G | CA360093954 | SMN1 | c.346A>G (p.Ile116Val) c.274-288A>G (n.274-288A>G) | |
| 5 | g.70942430A>T | CA254696 | SMN1 | c.346A>T (p.Ile116Phe) c.274-288A>T (n.274-288A>T) | ClinVar dbSNP |
| 5 | g.70942431T>A | CA360093959 | SMN1 | c.347T>A (p.Ile116Asn) c.274-287T>A (n.274-287T>A) | |
| 5 | g.70942431T>C | CA360093961 | SMN1 | c.347T>C (p.Ile116Thr) c.274-287T>C (n.274-287T>C) |