Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.70925146C>A | CA120725138 | SMN1 | c.43C>A (p.Gln15Lys) | |
5 | g.70925146C= | CA1554170657 | SMN1 | c.43C= (p.Gln15=) | |
5 | g.70925146C>G | CA120725139 | SMN1 | c.43C>G (p.Gln15Glu) | |
5 | g.70925146C>T | CA360089657 | SMN1 | c.43C>T (p.Gln15Ter) | ClinVar dbSNP |
5 | g.70925146_70925149delinsCAGG | CA1554170656 | SMN1 | c.43_46delinsCAGG (p.Gln15=) | |
5 | g.70925147A>C | CA360089659 | SMN1 | c.44A>C (p.Gln15Pro) | |
5 | g.70925147A>G | CA360089660 | SMN1 | c.44A>G (p.Gln15Arg) | |
5 | g.70925147A>T | CA360089662 | SMN1 | c.44A>T (p.Gln15Leu) | |
5 | g.70925151_70925153del | CA560282044 | SMN1 | c.48_50del (p.Glu16del) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.70925148G>A | CA444962315 | SMN1 | c.45G>A (p.Gln15=) | dbSNP |
5 | g.70925148G>C | CA360089665 | SMN1 | c.45G>C (p.Gln15His) | |
5 | g.70925148G= | CA1554170658 | SMN1 | c.45G= (p.Gln15=) | |
5 | g.70925148G>T | CA360089667 | SMN1 | c.45G>T (p.Gln15His) | |
5 | g.70925149G>A | CA360089669 | SMN1 | c.46G>A (p.Glu16Lys) | gnomAD v4 |
5 | g.70925149G>C | CA360089671 | SMN1 | c.46G>C (p.Glu16Gln) | gnomAD v4 |
5 | g.70925149G>T | CA360089673 | SMN1 | c.46G>T (p.Glu16Ter) | |
5 | g.70925150A= | CA1554170659 | SMN1 | c.47A= (p.Glu16=) | |
5 | g.70925150A>C | CA360089674 | SMN1 | c.47A>C (p.Glu16Ala) | |
5 | g.70925150A>G | CA360089676 | SMN1 | c.47A>G (p.Glu16Gly) | |
5 | g.70925150A>T | CA360089678 | SMN1 | c.47A>T (p.Glu16Val) | |
5 | g.70925151G>A | CA444962333 | SMN1 | c.48G>A (p.Glu16=) | |
5 | g.70925151G>C | CA360089681 | SMN1 | c.48G>C (p.Glu16Asp) | |
5 | g.70925151G>T | CA360089680 | SMN1 | c.48G>T (p.Glu16Asp) | |
5 | g.70925151_70925158dup | CA913189519 | SMN1 | c.48_55dup (p.Val19GlyfsTer24) | ClinVar dbSNP |
5 | g.70925152G>A | CA360089684 | SMN1 | c.49G>A (p.Asp17Asn) | |
5 | g.70925152G>C | CA360089686 | SMN1 | c.49G>C (p.Asp17His) | |
5 | g.70925152G>T | CA360089688 | SMN1 | c.49G>T (p.Asp17Tyr) | |
5 | g.70925153A>C | CA360089690 | SMN1 | c.50A>C (p.Asp17Ala) | |
5 | g.70925153A>G | CA360089692 | SMN1 | c.50A>G (p.Asp17Gly) | |
5 | g.70925153A>T | CA360089694 | SMN1 | c.50A>T (p.Asp17Val) | |
5 | g.70925154T>A | CA360089697 | SMN1 | c.51T>A (p.Asp17Glu) | |
5 | g.70925154T>C | CA444962352 | SMN1 | c.51T>C (p.Asp17=) | |
5 | g.70925154T>G | CA360089696 | SMN1 | c.51T>G (p.Asp17Glu) | gnomAD v4 |
5 | g.70925155T>A | CA360089699 | SMN1 | c.52T>A (p.Ser18Thr) | |
5 | g.70925155T>C | CA360089701 | SMN1 | c.52T>C (p.Ser18Pro) | |
5 | g.70925155T>G | CA360089702 | SMN1 | c.52T>G (p.Ser18Ala) | |
5 | g.70925156C>A | CA360089705 | SMN1 | c.53C>A (p.Ser18Tyr) | |
5 | g.70925156C>G | CA360089707 | SMN1 | c.53C>G (p.Ser18Cys) | gnomAD v4 |
5 | g.70925156C>T | CA360089708 | SMN1 | c.53C>T (p.Ser18Phe) | |
5 | g.70925157C>A | CA444962365 | SMN1 | c.54C>A (p.Ser18=) | |
5 | g.70925157C>G | CA444962366 | SMN1 | c.54C>G (p.Ser18=) | |
5 | g.70925157C>T | CA444962369 | SMN1 | c.54C>T (p.Ser18=) | |
5 | g.70925158G>A | CA360089713 | SMN1 | c.55G>A (p.Val19Met) | |
5 | g.70925158G>C | CA360089712 | SMN1 | c.55G>C (p.Val19Leu) | |
5 | g.70925158G>T | CA360089711 | SMN1 | c.55G>T (p.Val19Leu) | |
5 | g.70925159del | CA2695204536 | SMN1 | c.56del (p.Val19GlyfsTer21) | |
5 | g.70925159T>A | CA360089714 | SMN1 | c.56T>A (p.Val19Glu) | |
5 | g.70925159T>C | CA360089718 | SMN1 | c.56T>C (p.Val19Ala) | |
5 | g.70925159T>G | CA360089716 | SMN1 | c.56T>G (p.Val19Gly) | |
5 | g.70925160G>A | CA444962391 | SMN1 | c.57G>A (p.Val19=) |