| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47448924A= | CA1969379589 | RAPSN | c.41T= (p.Leu14=) | |
| 11 | g.47448924A>C | CA380337174 | RAPSN | c.41T>G (p.Leu14Arg) | |
| 11 | g.47448924A>G | CA119252 | RAPSN | c.41T>C (p.Leu14Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47448924A>T | CA380337177 | RAPSN | c.41T>A (p.Leu14His) | |
| 11 | g.47448925G>A | CA380337178 | RAPSN | c.40C>T (p.Leu14Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47448925G>C | CA380337181 | RAPSN | c.40C>G (p.Leu14Val) | |
| 11 | g.47448925G= | CA1969379593 | RAPSN | c.40C= (p.Leu14=) | |
| 11 | g.47448925G>T | CA380337188 | RAPSN | c.40C>A (p.Leu14Ile) | gnomAD v4 |
| 11 | g.47448926C>A | CA5976850 | RAPSN | c.39G>T (p.Gly13=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47448926C= | CA1969379596 | RAPSN | c.39G= (p.Gly13=) | |
| 11 | g.47448926C>G | CA474220535 | RAPSN | c.39G>C (p.Gly13=) | dbSNP gnomAD v4 |
| 11 | g.47448926C>T | CA5976851 | RAPSN | c.39G>A (p.Gly13=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47448929del | CA2695201135 | RAPSN | c.39del (p.Leu14SerfsTer?) | ClinVar |
| 11 | g.47448927C>A | CA380337201 | RAPSN | c.38G>T (p.Gly13Val) | gnomAD v4 |
| 11 | g.47448927C>G | CA380337202 | RAPSN | c.38G>C (p.Gly13Ala) | gnomAD v4 |
| 11 | g.47448927C>T | CA380337204 | RAPSN | c.38G>A (p.Gly13Glu) | |
| 11 | g.47448928C>A | CA380337210 | RAPSN | c.37G>T (p.Gly13Trp) | |
| 11 | g.47448928C>G | CA380337212 | RAPSN | c.37G>C (p.Gly13Arg) | |
| 11 | g.47448928C>T | CA380337207 | RAPSN | c.37G>A (p.Gly13Arg) | |
| 11 | g.47448929C>A | CA380337213 | RAPSN | c.36G>T (p.Lys12Asn) | |
| 11 | g.47448929C>G | CA380337218 | RAPSN | c.36G>C (p.Lys12Asn) | |
| 11 | g.47448929C>T | CA474220544 | RAPSN | c.36G>A (p.Lys12=) | gnomAD v4 |
| 11 | g.47448930T>A | CA380337222 | RAPSN | c.35A>T (p.Lys12Met) | |
| 11 | g.47448930T>C | CA380337224 | RAPSN | c.35A>G (p.Lys12Arg) | |
| 11 | g.47448930T>G | CA380337227 | RAPSN | c.35A>C (p.Lys12Thr) | |
| 11 | g.47448931T>A | CA380337231 | RAPSN | c.34A>T (p.Lys12Ter) | |
| 11 | g.47448931T>C | CA380337233 | RAPSN | c.34A>G (p.Lys12Glu) | |
| 11 | g.47448931T>G | CA380337248 | RAPSN | c.34A>C (p.Lys12Gln) | |
| 11 | g.47448932C>A | CA380337251 | RAPSN | c.33G>T (p.Glu11Asp) | |
| 11 | g.47448932C= | CA1969379599 | RAPSN | c.33G= (p.Glu11=) | |
| 11 | g.47448932C>G | CA221723561 | RAPSN | c.33G>C (p.Glu11Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47448932C>T | CA474220551 | RAPSN | c.33G>A (p.Glu11=) | |
| 11 | g.47448933T>A | CA380337255 | RAPSN | c.32A>T (p.Glu11Val) | |
| 11 | g.47448933T>C | CA380337258 | RAPSN | c.32A>G (p.Glu11Gly) | |
| 11 | g.47448933T>G | CA380337260 | RAPSN | c.32A>C (p.Glu11Ala) | |
| 11 | g.47448934C>A | CA380337269 | RAPSN | c.31G>T (p.Glu11Ter) | |
| 11 | g.47448934C= | CA1969379602 | RAPSN | c.31G= (p.Glu11=) | |
| 11 | g.47448934C>G | CA380337266 | RAPSN | c.31G>C (p.Glu11Gln) | |
| 11 | g.47448934C>T | CA5976852 | RAPSN | c.31G>A (p.Glu11Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47448935G>A | CA5976853 | RAPSN | c.30C>T (p.Ile10=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47448935G>C | CA380337281 | RAPSN | c.30C>G (p.Ile10Met) | gnomAD v4 |
| 11 | g.47448935G= | CA1969379603 | RAPSN | c.30C= (p.Ile10=) | |
| 11 | g.47448935G>T | CA474220557 | RAPSN | c.30C>A (p.Ile10=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47448936A= | CA1969379606 | RAPSN | c.29T= (p.Ile10=) | |
| 11 | g.47448936A>C | CA380337284 | RAPSN | c.29T>G (p.Ile10Ser) | |
| 11 | g.47448936A>G | CA380337285 | RAPSN | c.29T>C (p.Ile10Thr) | ClinVar dbSNP |
| 11 | g.47448936A>T | CA380337286 | RAPSN | c.29T>A (p.Ile10Asn) | |
| 11 | g.47448937T>A | CA380337287 | RAPSN | c.28A>T (p.Ile10Phe) | gnomAD v4 |
| 11 | g.47448937T>C | CA380337288 | RAPSN | c.28A>G (p.Ile10Val) | |
| 11 | g.47448937T>G | CA380337289 | RAPSN | c.28A>C (p.Ile10Leu) |