| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.64767708C>A | CA486735082 | SPTB | c.6174G>T (p.Thr2058=) n.506G>T c.2169G>T (p.Thr723=) | |
| 14 | g.64767708C= | CA2142797593 | SPTB | c.6174G= (p.Thr2058=) n.506G= c.2169G= (p.Thr723=) | |
| 14 | g.64767708C>G | CA486735081 | SPTB | c.6174G>C (p.Thr2058=) n.506G>C c.2169G>C (p.Thr723=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64767708C>T | CA7229749 | SPTB | c.6174G>A (p.Thr2058=) n.506G>A c.2169G>A (p.Thr723=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767709G>A | CA7229750 | SPTB | c.6173C>T (p.Thr2058Met) n.505C>T c.2168C>T (p.Thr723Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767709G>C | CA390039256 | SPTB | c.6173C>G (p.Thr2058Arg) n.505C>G c.2168C>G (p.Thr723Arg) | |
| 14 | g.64767709G= | CA2142797597 | SPTB | c.6173C= (p.Thr2058=) n.505C= c.2168C= (p.Thr723=) | |
| 14 | g.64767709G>T | CA390039257 | SPTB | c.6173C>A (p.Thr2058Lys) n.505C>A c.2168C>A (p.Thr723Lys) | gnomAD v4 |
| 14 | g.64767710T>A | CA390039258 | SPTB | c.6172A>T (p.Thr2058Ser) n.504A>T c.2167A>T (p.Thr723Ser) | |
| 14 | g.64767710T>C | CA390039259 | SPTB | c.6172A>G (p.Thr2058Ala) n.504A>G c.2167A>G (p.Thr723Ala) | gnomAD v4 |
| 14 | g.64767710T>G | CA390039260 | SPTB | c.6172A>C (p.Thr2058Pro) n.504A>C c.2167A>C (p.Thr723Pro) | |
| 14 | g.64767711G>A | CA486735083 | SPTB | c.6171C>T (p.Ser2057=) n.503C>T c.2166C>T (p.Ser722=) | |
| 14 | g.64767711G>C | CA486735084 | SPTB | c.6171C>G (p.Ser2057=) n.503C>G c.2166C>G (p.Ser722=) | |
| 14 | g.64767711G>T | CA486735085 | SPTB | c.6171C>A (p.Ser2057=) n.503C>A c.2166C>A (p.Ser722=) | |
| 14 | g.64767712G>A | CA390039261 | SPTB | c.6170C>T (p.Ser2057Phe) n.502C>T c.2165C>T (p.Ser722Phe) | |
| 14 | g.64767712G>C | CA390039262 | SPTB | c.6170C>G (p.Ser2057Cys) n.502C>G c.2165C>G (p.Ser722Cys) | |
| 14 | g.64767712G= | CA2142797599 | SPTB | c.6170C= (p.Ser2057=) n.502C= c.2165C= (p.Ser722=) | |
| 14 | g.64767712G>T | CA7229751 | SPTB | c.6170C>A (p.Ser2057Tyr) n.502C>A c.2165C>A (p.Ser722Tyr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 14 | g.64767713A>C | CA390039263 | SPTB | c.6169T>G (p.Ser2057Ala) n.501T>G c.2164T>G (p.Ser722Ala) | |
| 14 | g.64767713A>G | CA390039265 | SPTB | c.6169T>C (p.Ser2057Pro) n.501T>C c.2164T>C (p.Ser722Pro) | |
| 14 | g.64767713A>T | CA390039264 | SPTB | c.6169T>A (p.Ser2057Thr) n.501T>A c.2164T>A (p.Ser722Thr) | |
| 14 | g.64767714C>A | CA390039266 | SPTB | c.6168G>T (p.Lys2056Asn) n.500G>T c.2163G>T (p.Lys721Asn) | gnomAD v4 |
| 14 | g.64767714C= | CA2142797600 | SPTB | c.6168G= (p.Lys2056=) n.500G= c.2163G= (p.Lys721=) | |
| 14 | g.64767714C>G | CA390039267 | SPTB | c.6168G>C (p.Lys2056Asn) n.500G>C c.2163G>C (p.Lys721Asn) | |
| 14 | g.64767714C>T | CA486735086 | SPTB | c.6168G>A (p.Lys2056=) n.500G>A c.2163G>A (p.Lys721=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64767714dup | CA2697553937 | SPTB | c.6168dup (p.Ser2057ValfsTer19) c.6168dup (p.Ser2057ValfsTer?) n.500dup c.2163dup (p.Ser722ValfsTer19) | ClinVar |
| 14 | g.64767715T>A | CA390039268 | SPTB | c.6167A>T (p.Lys2056Met) n.499A>T c.2162A>T (p.Lys721Met) | |
| 14 | g.64767715T>C | CA390039269 | SPTB | c.6167A>G (p.Lys2056Arg) n.499A>G c.2162A>G (p.Lys721Arg) | |
| 14 | g.64767715T>G | CA390039270 | SPTB | c.6167A>C (p.Lys2056Thr) n.499A>C c.2162A>C (p.Lys721Thr) | gnomAD v4 |
| 14 | g.64767715_64767722del | CA2695219391 | SPTB | c.6160_6167del (p.Phe2054ValfsTer19) c.6160_6167del (p.Phe2054ValfsTer?) n.492_499del c.2155_2162del (p.Phe719ValfsTer19) | |
| 14 | g.64767716T>A | CA390039271 | SPTB | c.6166A>T (p.Lys2056Ter) n.498A>T c.2161A>T (p.Lys721Ter) | |
| 14 | g.64767716T>C | CA390039272 | SPTB | c.6166A>G (p.Lys2056Glu) n.498A>G c.2161A>G (p.Lys721Glu) | |
| 14 | g.64767716T>G | CA390039273 | SPTB | c.6166A>C (p.Lys2056Gln) n.498A>C c.2161A>C (p.Lys721Gln) | gnomAD v4 |
| 14 | g.64767717C>A | CA390039274 | SPTB | c.6165G>T (p.Glu2055Asp) n.497G>T c.2160G>T (p.Glu720Asp) | |
| 14 | g.64767717C= | CA2142797602 | SPTB | c.6165G= (p.Glu2055=) n.497G= c.2160G= (p.Glu720=) | |
| 14 | g.64767717C>G | CA390039275 | SPTB | c.6165G>C (p.Glu2055Asp) n.497G>C c.2160G>C (p.Glu720Asp) | |
| 14 | g.64767717C>T | CA486735087 | SPTB | c.6165G>A (p.Glu2055=) n.497G>A c.2160G>A (p.Glu720=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767718T>A | CA390039278 | SPTB | c.6164A>T (p.Glu2055Val) n.496A>T c.2159A>T (p.Glu720Val) | |
| 14 | g.64767718T>C | CA390039277 | SPTB | c.6164A>G (p.Glu2055Gly) n.496A>G c.2159A>G (p.Glu720Gly) | gnomAD v4 |
| 14 | g.64767718T>G | CA390039276 | SPTB | c.6164A>C (p.Glu2055Ala) n.496A>C c.2159A>C (p.Glu720Ala) | |
| 14 | g.64767719C>A | CA390039279 | SPTB | c.6163G>T (p.Glu2055Ter) n.495G>T c.2158G>T (p.Glu720Ter) | |
| 14 | g.64767719C>G | CA390039280 | SPTB | c.6163G>C (p.Glu2055Gln) n.495G>C c.2158G>C (p.Glu720Gln) | gnomAD v4 |
| 14 | g.64767719C>T | CA390039281 | SPTB | c.6163G>A (p.Glu2055Lys) n.495G>A c.2158G>A (p.Glu720Lys) | gnomAD v4 |
| 14 | g.64767720A>C | CA390039282 | SPTB | c.6162T>G (p.Phe2054Leu) n.494T>G c.2157T>G (p.Phe719Leu) | |
| 14 | g.64767720A>G | CA486735088 | SPTB | c.6162T>C (p.Phe2054=) n.494T>C c.2157T>C (p.Phe719=) | |
| 14 | g.64767720A>T | CA390039283 | SPTB | c.6162T>A (p.Phe2054Leu) n.494T>A c.2157T>A (p.Phe719Leu) | |
| 14 | g.64767721A>C | CA390039286 | SPTB | c.6161T>G (p.Phe2054Cys) n.493T>G c.2156T>G (p.Phe719Cys) | |
| 14 | g.64767721A>G | CA390039285 | SPTB | c.6161T>C (p.Phe2054Ser) n.493T>C c.2156T>C (p.Phe719Ser) | |
| 14 | g.64767721A>T | CA390039284 | SPTB | c.6161T>A (p.Phe2054Tyr) n.493T>A c.2156T>A (p.Phe719Tyr) | |
| 14 | g.64767722A>C | CA390039287 | SPTB | c.6160T>G (p.Phe2054Val) n.492T>G c.2155T>G (p.Phe719Val) |