| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.64767680G>A | CA486735064 | SPTB | c.6202C>T (p.Leu2068=) n.534C>T c.2197C>T (p.Leu733=) | gnomAD v4 |
| 14 | g.64767680G>C | CA390039196 | SPTB | c.6202C>G (p.Leu2068Val) n.534C>G c.2197C>G (p.Leu733Val) | |
| 14 | g.64767680G>T | CA390039197 | SPTB | c.6202C>A (p.Leu2068Met) n.534C>A c.2197C>A (p.Leu733Met) | |
| 14 | g.64767681G>A | CA486735065 | SPTB | c.6201C>T (p.Ala2067=) n.533C>T c.2196C>T (p.Ala732=) | gnomAD v4 |
| 14 | g.64767681G>C | CA486735067 | SPTB | c.6201C>G (p.Ala2067=) n.533C>G c.2196C>G (p.Ala732=) | |
| 14 | g.64767681G>T | CA486735066 | SPTB | c.6201C>A (p.Ala2067=) n.533C>A c.2196C>A (p.Ala732=) | |
| 14 | g.64767682G>A | CA390039198 | SPTB | c.6200C>T (p.Ala2067Val) n.532C>T c.2195C>T (p.Ala732Val) | |
| 14 | g.64767682G>C | CA390039199 | SPTB | c.6200C>G (p.Ala2067Gly) n.532C>G c.2195C>G (p.Ala732Gly) | |
| 14 | g.64767682G>T | CA390039200 | SPTB | c.6200C>A (p.Ala2067Asp) n.532C>A c.2195C>A (p.Ala732Asp) | |
| 14 | g.64767683C>A | CA390039201 | SPTB | c.6199G>T (p.Ala2067Ser) n.531G>T c.2194G>T (p.Ala732Ser) | |
| 14 | g.64767683C= | CA2142797555 | SPTB | c.6199G= (p.Ala2067=) n.531G= c.2194G= (p.Ala732=) | |
| 14 | g.64767683C>G | CA390039202 | SPTB | c.6199G>C (p.Ala2067Pro) n.531G>C c.2194G>C (p.Ala732Pro) | |
| 14 | g.64767683C>T | CA390039203 | SPTB | c.6199G>A (p.Ala2067Thr) n.531G>A c.2194G>A (p.Ala732Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64767684A>C | CA486735068 | SPTB | c.6198T>G (p.Ala2066=) n.530T>G c.2193T>G (p.Ala731=) | |
| 14 | g.64767684A>G | CA486735069 | SPTB | c.6198T>C (p.Ala2066=) n.530T>C c.2193T>C (p.Ala731=) | |
| 14 | g.64767684A>T | CA486735070 | SPTB | c.6198T>A (p.Ala2066=) n.530T>A c.2193T>A (p.Ala731=) | |
| 14 | g.64767685G>A | CA390039204 | SPTB | c.6197C>T (p.Ala2066Val) n.529C>T c.2192C>T (p.Ala731Val) | gnomAD v4 |
| 14 | g.64767685G>C | CA390039205 | SPTB | c.6197C>G (p.Ala2066Gly) n.529C>G c.2192C>G (p.Ala731Gly) | |
| 14 | g.64767685G>T | CA390039206 | SPTB | c.6197C>A (p.Ala2066Asp) n.529C>A c.2192C>A (p.Ala731Asp) | |
| 14 | g.64767686C>A | CA390039207 | SPTB | c.6196G>T (p.Ala2066Ser) n.528G>T c.2191G>T (p.Ala731Ser) | |
| 14 | g.64767686C= | CA2142797556 | SPTB | c.6196G= (p.Ala2066=) n.528G= c.2191G= (p.Ala731=) | |
| 14 | g.64767686C>G | CA390039208 | SPTB | c.6196G>C (p.Ala2066Pro) n.528G>C c.2191G>C (p.Ala731Pro) | |
| 14 | g.64767686C>T | CA390039209 | SPTB | c.6196G>A (p.Ala2066Thr) n.528G>A c.2191G>A (p.Ala731Thr) | |
| 14 | g.64767687A>C | CA390039211 | SPTB | c.6195T>G (p.Phe2065Leu) n.527T>G c.2190T>G (p.Phe730Leu) | |
| 14 | g.64767687A>G | CA486735071 | SPTB | c.6195T>C (p.Phe2065=) n.527T>C c.2190T>C (p.Phe730=) | |
| 14 | g.64767687A>T | CA390039210 | SPTB | c.6195T>A (p.Phe2065Leu) n.527T>A c.2190T>A (p.Phe730Leu) | |
| 14 | g.64767688_64767689dup | CA658824353 | SPTB | c.6194_6195dup (p.Ala2066LeufsTer12) c.6194_6195dup (p.Ala2066LeufsTer?) n.526_527dup c.2189_2190dup (p.Ala731LeufsTer12) | ClinVar dbSNP |
| 14 | g.64767688A>C | CA390039212 | SPTB | c.6194T>G (p.Phe2065Cys) n.526T>G c.2189T>G (p.Phe730Cys) | |
| 14 | g.64767688A>G | CA390039213 | SPTB | c.6194T>C (p.Phe2065Ser) n.526T>C c.2189T>C (p.Phe730Ser) | |
| 14 | g.64767688A>T | CA390039214 | SPTB | c.6194T>A (p.Phe2065Tyr) n.526T>A c.2189T>A (p.Phe730Tyr) | |
| 14 | g.64767689A= | CA2142797564 | SPTB | c.6193T= (p.Phe2065=) n.525T= c.2188T= (p.Phe730=) | |
| 14 | g.64767689A>C | CA7229743 | SPTB | c.6193T>G (p.Phe2065Val) n.525T>G c.2188T>G (p.Phe730Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767689A>G | CA390039215 | SPTB | c.6193T>C (p.Phe2065Leu) n.525T>C c.2188T>C (p.Phe730Leu) | gnomAD v4 |
| 14 | g.64767689A>T | CA390039216 | SPTB | c.6193T>A (p.Phe2065Ile) n.525T>A c.2188T>A (p.Phe730Ile) | |
| 14 | g.64767690G>A | CA486735072 | SPTB | c.6192C>T (p.Arg2064=) n.524C>T c.2187C>T (p.Arg729=) | dbSNP gnomAD v2 |
| 14 | g.64767690G>C | CA486735073 | SPTB | c.6192C>G (p.Arg2064=) n.524C>G c.2187C>G (p.Arg729=) | |
| 14 | g.64767690G= | CA2142797568 | SPTB | c.6192C= (p.Arg2064=) n.524C= c.2187C= (p.Arg729=) | |
| 14 | g.64767690G>T | CA486735074 | SPTB | c.6192C>A (p.Arg2064=) n.524C>A c.2187C>A (p.Arg729=) | |
| 14 | g.64767691C>A | CA390039217 | SPTB | c.6191G>T (p.Arg2064Leu) n.523G>T c.2186G>T (p.Arg729Leu) | |
| 14 | g.64767691C= | CA2142797572 | SPTB | c.6191G= (p.Arg2064=) n.523G= c.2186G= (p.Arg729=) | |
| 14 | g.64767691C>G | CA122745 | SPTB | c.6191G>C (p.Arg2064Pro) n.523G>C c.2186G>C (p.Arg729Pro) | ClinVar dbSNP |
| 14 | g.64767691C>T | CA7229744 | SPTB | c.6191G>A (p.Arg2064His) n.523G>A c.2186G>A (p.Arg729His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767692G>A | CA7229745 | SPTB | c.6190C>T (p.Arg2064Cys) n.522C>T c.2185C>T (p.Arg729Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.64767692G>C | CA7229746 | SPTB | c.6190C>G (p.Arg2064Gly) n.522C>G c.2185C>G (p.Arg729Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64767692G= | CA2142797575 | SPTB | c.6190C= (p.Arg2064=) n.522C= c.2185C= (p.Arg729=) | |
| 14 | g.64767692G>T | CA390039218 | SPTB | c.6190C>A (p.Arg2064Ser) n.522C>A c.2185C>A (p.Arg729Ser) | |
| 14 | g.64767693C>A | CA390039219 | SPTB | c.6189G>T (p.Glu2063Asp) n.521G>T c.2184G>T (p.Glu728Asp) | |
| 14 | g.64767693C= | CA2142797578 | SPTB | c.6189G= (p.Glu2063=) n.521G= c.2184G= (p.Glu728=) | |
| 14 | g.64767693C>G | CA390039220 | SPTB | c.6189G>C (p.Glu2063Asp) n.521G>C c.2184G>C (p.Glu728Asp) | |
| 14 | g.64767693C>T | CA262682653 | SPTB | c.6189G>A (p.Glu2063=) n.521G>A c.2184G>A (p.Glu728=) | dbSNP |
| 14 | g.64767695_64767696del | CA2697553936 | SPTB | c.6188_6189del (p.Glu2063AlafsTer12) c.6188_6189del (p.Glu2063AlafsTer?) n.520_521del c.2183_2184del (p.Glu728AlafsTer12) | ClinVar |
| 14 | g.64767694T>A | CA390039221 | SPTB | c.6188A>T (p.Glu2063Val) n.520A>T c.2183A>T (p.Glu728Val) | |
| 14 | g.64767694T>C | CA390039222 | SPTB | c.6188A>G (p.Glu2063Gly) n.520A>G c.2183A>G (p.Glu728Gly) | gnomAD v4 |
| 14 | g.64767694T>G | CA390039224 | SPTB | c.6188A>C (p.Glu2063Ala) n.520A>C c.2183A>C (p.Glu728Ala) | |
| 14 | g.64767695C>A | CA390039225 | SPTB | c.6187G>T (p.Glu2063Ter) n.519G>T c.2182G>T (p.Glu728Ter) | |
| 14 | g.64767695C= | CA2142797580 | SPTB | c.6187G= (p.Glu2063=) n.519G= c.2182G= (p.Glu728=) | |
| 14 | g.64767695C>G | CA390039226 | SPTB | c.6187G>C (p.Glu2063Gln) n.519G>C c.2182G>C (p.Glu728Gln) | |
| 14 | g.64767695C>T | CA390039227 | SPTB | c.6187G>A (p.Glu2063Lys) n.519G>A c.2182G>A (p.Glu728Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64767696T>A | CA486735077 | SPTB | c.6186A>T (p.Ala2062=) n.518A>T c.2181A>T (p.Ala727=) | |
| 14 | g.64767696T>C | CA486735076 | SPTB | c.6186A>G (p.Ala2062=) n.518A>G c.2181A>G (p.Ala727=) | |
| 14 | g.64767696T>G | CA486735075 | SPTB | c.6186A>C (p.Ala2062=) n.518A>C c.2181A>C (p.Ala727=) | |
| 14 | g.64767697G>A | CA390039228 | SPTB | c.6185C>T (p.Ala2062Val) n.517C>T c.2180C>T (p.Ala727Val) | |
| 14 | g.64767697G>C | CA390039229 | SPTB | c.6185C>G (p.Ala2062Gly) n.517C>G c.2180C>G (p.Ala727Gly) | |
| 14 | g.64767697G= | CA2142797583 | SPTB | c.6185C= (p.Ala2062=) n.517C= c.2180C= (p.Ala727=) | |
| 14 | g.64767697G>T | CA390039230 | SPTB | c.6185C>A (p.Ala2062Glu) n.517C>A c.2180C>A (p.Ala727Glu) | dbSNP gnomAD v2 |
| 14 | g.64767698C>A | CA390039231 | SPTB | c.6184G>T (p.Ala2062Ser) n.516G>T c.2179G>T (p.Ala727Ser) | |
| 14 | g.64767698C>G | CA390039232 | SPTB | c.6184G>C (p.Ala2062Pro) n.516G>C c.2179G>C (p.Ala727Pro) | |
| 14 | g.64767698C>T | CA390039233 | SPTB | c.6184G>A (p.Ala2062Thr) n.516G>A c.2179G>A (p.Ala727Thr) | |
| 14 | g.64767699C>A | CA390039236 | SPTB | c.6183G>T (p.Trp2061Cys) n.515G>T c.2178G>T (p.Trp726Cys) | |
| 14 | g.64767699C>G | CA390039234 | SPTB | c.6183G>C (p.Trp2061Cys) n.515G>C c.2178G>C (p.Trp726Cys) | |
| 14 | g.64767699C>T | CA390039235 | SPTB | c.6183G>A (p.Trp2061Ter) n.515G>A c.2178G>A (p.Trp726Ter) | gnomAD v4 |
| 14 | g.64767700C>A | CA390039237 | SPTB | c.6182G>T (p.Trp2061Leu) n.514G>T c.2177G>T (p.Trp726Leu) | |
| 14 | g.64767700C>G | CA390039238 | SPTB | c.6182G>C (p.Trp2061Ser) n.514G>C c.2177G>C (p.Trp726Ser) | gnomAD v4 |
| 14 | g.64767700C>T | CA390039239 | SPTB | c.6182G>A (p.Trp2061Ter) n.514G>A c.2177G>A (p.Trp726Ter) | |
| 14 | g.64767700_64767711delinsAGCTGGGCA | CA2830782756 | SPTB | c.6171_6182delinsTGCCCAGCT (p.Thr2058_Trp2061delinsAlaGlnLeu) n.503_514delinsTGCCCAGCT c.2166_2177delinsTGCCCAGCT (p.Thr723_Trp726delinsAlaGlnLeu) | |
| 14 | g.64767701A= | CA2142797584 | SPTB | c.6181T= (p.Trp2061=) n.513T= c.2176T= (p.Trp726=) | |
| 14 | g.64767701A>C | CA390039240 | SPTB | c.6181T>G (p.Trp2061Gly) n.513T>G c.2176T>G (p.Trp726Gly) | ClinVar dbSNP |
| 14 | g.64767701A>G | CA390039241 | SPTB | c.6181T>C (p.Trp2061Arg) n.513T>C c.2176T>C (p.Trp726Arg) | |
| 14 | g.64767701A>T | CA390039242 | SPTB | c.6181T>A (p.Trp2061Arg) n.513T>A c.2176T>A (p.Trp726Arg) | dbSNP |
| 14 | g.64767702G>A | CA7229747 | SPTB | c.6180C>T (p.Ser2060=) n.512C>T c.2175C>T (p.Ser725=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64767702G>C | CA390039243 | SPTB | c.6180C>G (p.Ser2060Arg) n.512C>G c.2175C>G (p.Ser725Arg) | |
| 14 | g.64767702G= | CA2142797586 | SPTB | c.6180C= (p.Ser2060=) n.512C= c.2175C= (p.Ser725=) | |
| 14 | g.64767702G>T | CA390039244 | SPTB | c.6180C>A (p.Ser2060Arg) n.512C>A c.2175C>A (p.Ser725Arg) | |
| 14 | g.64767703C>A | CA390039245 | SPTB | c.6179G>T (p.Ser2060Ile) n.511G>T c.2174G>T (p.Ser725Ile) | |
| 14 | g.64767703C>G | CA390039246 | SPTB | c.6179G>C (p.Ser2060Thr) n.511G>C c.2174G>C (p.Ser725Thr) | |
| 14 | g.64767703C>T | CA390039247 | SPTB | c.6179G>A (p.Ser2060Asn) n.511G>A c.2174G>A (p.Ser725Asn) | |
| 14 | g.64767704T>A | CA390039249 | SPTB | c.6178A>T (p.Ser2060Cys) n.510A>T c.2173A>T (p.Ser725Cys) | |
| 14 | g.64767704T>C | CA7229748 | SPTB | c.6178A>G (p.Ser2060Gly) n.510A>G c.2173A>G (p.Ser725Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64767704T>G | CA390039248 | SPTB | c.6178A>C (p.Ser2060Arg) n.510A>C c.2173A>C (p.Ser725Arg) | |
| 14 | g.64767704T= | CA2142797587 | SPTB | c.6178A= (p.Ser2060=) n.510A= c.2173A= (p.Ser725=) | |
| 14 | g.64767704_64767705delinsTG | CA2142797588 | SPTB | c.6177_6178delinsCA (p.Ala2059=) n.509_510delinsCA c.2172_2173delinsCA (p.Ala724=) | |
| 14 | g.64767705G>A | CA486735078 | SPTB | c.6177C>T (p.Ala2059=) n.509C>T c.2172C>T (p.Ala724=) | |
| 14 | g.64767705G>C | CA486735079 | SPTB | c.6177C>G (p.Ala2059=) n.509C>G c.2172C>G (p.Ala724=) | |
| 14 | g.64767705G>T | CA486735080 | SPTB | c.6177C>A (p.Ala2059=) n.509C>A c.2172C>A (p.Ala724=) | |
| 14 | g.64767706del | CA913185059 | SPTB | c.6177del (p.Ser2060AlafsTer17) c.6177del (p.Ser2060AlafsTer?) n.509del c.2172del (p.Ser725AlafsTer17) | ClinVar dbSNP |
| 14 | g.64767706G>A | CA390039251 | SPTB | c.6176C>T (p.Ala2059Val) n.508C>T c.2171C>T (p.Ala724Val) | |
| 14 | g.64767706G>C | CA390039250 | SPTB | c.6176C>G (p.Ala2059Gly) n.508C>G c.2171C>G (p.Ala724Gly) | |
| 14 | g.64767706G>T | CA390039252 | SPTB | c.6176C>A (p.Ala2059Asp) n.508C>A c.2171C>A (p.Ala724Asp) | |
| 14 | g.64767707C>A | CA390039253 | SPTB | c.6175G>T (p.Ala2059Ser) n.507G>T c.2170G>T (p.Ala724Ser) | |
| 14 | g.64767707C>G | CA390039254 | SPTB | c.6175G>C (p.Ala2059Pro) n.507G>C c.2170G>C (p.Ala724Pro) | gnomAD v4 |
| 14 | g.64767707C>T | CA390039255 | SPTB | c.6175G>A (p.Ala2059Thr) n.507G>A c.2170G>A (p.Ala724Thr) | gnomAD v4 |
| 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) | |
| 14 | g.64767722A>G | CA390039288 | SPTB | c.6160T>C (p.Phe2054Leu) n.492T>C c.2155T>C (p.Phe719Leu) | |
| 14 | g.64767722A>T | CA390039289 | SPTB | c.6160T>A (p.Phe2054Ile) n.492T>A c.2155T>A (p.Phe719Ile) | |
| 14 | g.64767723A>C | CA486735089 | SPTB | c.6159T>G (p.Ala2053=) n.491T>G c.2154T>G (p.Ala718=) | |
| 14 | g.64767723A>G | CA486735090 | SPTB | c.6159T>C (p.Ala2053=) n.491T>C c.2154T>C (p.Ala718=) | |
| 14 | g.64767723A>T | CA486735091 | SPTB | c.6159T>A (p.Ala2053=) n.491T>A c.2154T>A (p.Ala718=) | |
| 14 | g.64767724G>A | CA390039290 | SPTB | c.6158C>T (p.Ala2053Val) n.490C>T c.2153C>T (p.Ala718Val) | |
| 14 | g.64767724G>C | CA390039291 | SPTB | c.6158C>G (p.Ala2053Gly) n.490C>G c.2153C>G (p.Ala718Gly) | |
| 14 | g.64767724G>T | CA390039292 | SPTB | c.6158C>A (p.Ala2053Asp) n.490C>A c.2153C>A (p.Ala718Asp) | |
| 14 | g.64767725C>A | CA390039293 | SPTB | c.6157G>T (p.Ala2053Ser) n.489G>T c.2152G>T (p.Ala718Ser) | gnomAD v4 |
| 14 | g.64767725C= | CA2142797603 | SPTB | c.6157G= (p.Ala2053=) n.489G= c.2152G= (p.Ala718=) | |
| 14 | g.64767725C>G | CA122734 | SPTB | c.6157G>C (p.Ala2053Pro) n.489G>C c.2152G>C (p.Ala718Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767725C>T | CA390039294 | SPTB | c.6157G>A (p.Ala2053Thr) n.489G>A c.2152G>A (p.Ala718Thr) | |
| 14 | g.64767726C>A | CA390039295 | SPTB | c.6156G>T (p.Glu2052Asp) n.488G>T c.2151G>T (p.Glu717Asp) | |
| 14 | g.64767726C= | CA2142797606 | SPTB | c.6156G= (p.Glu2052=) n.488G= c.2151G= (p.Glu717=) | |
| 14 | g.64767726C>G | CA390039296 | SPTB | c.6156G>C (p.Glu2052Asp) n.488G>C c.2151G>C (p.Glu717Asp) | |
| 14 | g.64767726C>T | CA7229752 | SPTB | c.6156G>A (p.Glu2052=) n.488G>A c.2151G>A (p.Glu717=) | dbSNP ExAC |
| 14 | g.64767727T>A | CA390039297 | SPTB | c.6155A>T (p.Glu2052Val) n.487A>T c.2150A>T (p.Glu717Val) | |
| 14 | g.64767727T>C | CA390039298 | SPTB | c.6155A>G (p.Glu2052Gly) n.487A>G c.2150A>G (p.Glu717Gly) | |
| 14 | g.64767727T>G | CA390039299 | SPTB | c.6155A>C (p.Glu2052Ala) n.487A>C c.2150A>C (p.Glu717Ala) | |
| 14 | g.64767728C>A | CA390039300 | SPTB | c.6154G>T (p.Glu2052Ter) n.486G>T c.2149G>T (p.Glu717Ter) | |
| 14 | g.64767728C>G | CA390039301 | SPTB | c.6154G>C (p.Glu2052Gln) n.486G>C c.2149G>C (p.Glu717Gln) | |
| 14 | g.64767728C>T | CA390039302 | SPTB | c.6154G>A (p.Glu2052Lys) n.486G>A c.2149G>A (p.Glu717Lys) | COSMIC COSMIC |
| 14 | g.64767729A= | CA2142797608 | SPTB | c.6153T= (p.His2051=) n.485T= c.2148T= (p.His716=) | |
| 14 | g.64767729A>C | CA262682718 | SPTB | c.6153T>G (p.His2051Gln) n.485T>G c.2148T>G (p.His716Gln) | dbSNP |
| 14 | g.64767729A>G | CA486735092 | SPTB | c.6153T>C (p.His2051=) n.485T>C c.2148T>C (p.His716=) | |
| 14 | g.64767729A>T | CA390039303 | SPTB | c.6153T>A (p.His2051Gln) n.485T>A c.2148T>A (p.His716Gln) | |
| 14 | g.64767730T>A | CA390039305 | SPTB | c.6152A>T (p.His2051Leu) n.484A>T c.2147A>T (p.His716Leu) | |
| 14 | g.64767730T>C | CA390039306 | SPTB | c.6152A>G (p.His2051Arg) n.484A>G c.2147A>G (p.His716Arg) | |
| 14 | g.64767730T>G | CA390039304 | SPTB | c.6152A>C (p.His2051Pro) n.484A>C c.2147A>C (p.His716Pro) | |
| 14 | g.64767731G>A | CA390039307 | SPTB | c.6151C>T (p.His2051Tyr) n.483C>T c.2146C>T (p.His716Tyr) | gnomAD v4 |
| 14 | g.64767731G>C | CA390039309 | SPTB | c.6151C>G (p.His2051Asp) n.483C>G c.2146C>G (p.His716Asp) | |
| 14 | g.64767731G>T | CA390039308 | SPTB | c.6151C>A (p.His2051Asn) n.483C>A c.2146C>A (p.His716Asn) | |
| 14 | g.64767732C>A | CA262682723 | SPTB | c.6150G>T (p.Arg2050Ser) n.482G>T c.2145G>T (p.Arg715Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767732C= | CA2142797611 | SPTB | c.6150G= (p.Arg2050=) n.482G= c.2145G= (p.Arg715=) | |
| 14 | g.64767732C>G | CA390039310 | SPTB | c.6150G>C (p.Arg2050Ser) n.482G>C c.2145G>C (p.Arg715Ser) | COSMIC |
| 14 | g.64767732C>T | CA486735093 | SPTB | c.6150G>A (p.Arg2050=) n.482G>A c.2145G>A (p.Arg715=) | dbSNP |
| 14 | g.64767733del | CA2625262833 | SPTB | c.6150del (p.Arg2050SerfsTer27) c.6150del (p.Arg2050SerfsTer?) n.482del c.2145del (p.Arg715SerfsTer27) | gnomAD v4 |
| 14 | g.64767733C>A | CA390039311 | SPTB | c.6149G>T (p.Arg2050Met) n.481G>T c.2144G>T (p.Arg715Met) | |
| 14 | g.64767733C>G | CA390039313 | SPTB | c.6149G>C (p.Arg2050Thr) n.481G>C c.2144G>C (p.Arg715Thr) | |
| 14 | g.64767733C>T | CA390039312 | SPTB | c.6149G>A (p.Arg2050Lys) n.481G>A c.2144G>A (p.Arg715Lys) | |
| 14 | g.64767734T>A | CA390039314 | SPTB | c.6148A>T (p.Arg2050Trp) n.480A>T c.2143A>T (p.Arg715Trp) | |
| 14 | g.64767734T>C | CA390039315 | SPTB | c.6148A>G (p.Arg2050Gly) n.480A>G c.2143A>G (p.Arg715Gly) | |
| 14 | g.64767734T>G | CA486735094 | SPTB | c.6148A>C (p.Arg2050=) n.480A>C c.2143A>C (p.Arg715=) | |
| 14 | g.64767735C>A | CA390039316 | SPTB | c.6147G>T (p.Lys2049Asn) n.479G>T c.2142G>T (p.Lys714Asn) | |
| 14 | g.64767735C>G | CA390039317 | SPTB | c.6147G>C (p.Lys2049Asn) n.479G>C c.2142G>C (p.Lys714Asn) | |
| 14 | g.64767735C>T | CA486735095 | SPTB | c.6147G>A (p.Lys2049=) n.479G>A c.2142G>A (p.Lys714=) | gnomAD v4 |
| 14 | g.64767736T>A | CA390039318 | SPTB | c.6146A>T (p.Lys2049Met) n.478A>T c.2141A>T (p.Lys714Met) | |
| 14 | g.64767736T>C | CA390039319 | SPTB | c.6146A>G (p.Lys2049Arg) n.478A>G c.2141A>G (p.Lys714Arg) | |
| 14 | g.64767736T>G | CA390039320 | SPTB | c.6146A>C (p.Lys2049Thr) n.478A>C c.2141A>C (p.Lys714Thr) | |
| 14 | g.64767737T>A | CA390039321 | SPTB | c.6145A>T (p.Lys2049Ter) n.477A>T c.2140A>T (p.Lys714Ter) | |
| 14 | g.64767737T>C | CA390039322 | SPTB | c.6145A>G (p.Lys2049Glu) n.477A>G c.2140A>G (p.Lys714Glu) | |
| 14 | g.64767737T>G | CA390039323 | SPTB | c.6145A>C (p.Lys2049Gln) n.477A>C c.2140A>C (p.Lys714Gln) | |
| 14 | g.64767738G>A | CA486735096 | SPTB | c.6144C>T (p.Ile2048=) n.476C>T c.2139C>T (p.Ile713=) | |
| 14 | g.64767738G>C | CA390039324 | SPTB | c.6144C>G (p.Ile2048Met) n.476C>G c.2139C>G (p.Ile713Met) | |
| 14 | g.64767738G>T | CA486735097 | SPTB | c.6144C>A (p.Ile2048=) n.476C>A c.2139C>A (p.Ile713=) | COSMIC COSMIC |
| 14 | g.64767739A>C | CA390039327 | SPTB | c.6143T>G (p.Ile2048Ser) n.475T>G c.2138T>G (p.Ile713Ser) | |
| 14 | g.64767739A>G | CA390039326 | SPTB | c.6143T>C (p.Ile2048Thr) n.475T>C c.2138T>C (p.Ile713Thr) | |
| 14 | g.64767739A>T | CA390039325 | SPTB | c.6143T>A (p.Ile2048Asn) n.475T>A c.2138T>A (p.Ile713Asn) | |
| 14 | g.64767740T>A | CA390039328 | SPTB | c.6142A>T (p.Ile2048Phe) n.474A>T c.2137A>T (p.Ile713Phe) | gnomAD v4 |
| 14 | g.64767740T>C | CA390039329 | SPTB | c.6142A>G (p.Ile2048Val) n.474A>G c.2137A>G (p.Ile713Val) | gnomAD v4 |
| 14 | g.64767740T>G | CA390039330 | SPTB | c.6142A>C (p.Ile2048Leu) n.474A>C c.2137A>C (p.Ile713Leu) | ClinVar gnomAD v4 |
| 14 | g.64767741G>A | CA7229753 | SPTB | c.6141C>T (p.Leu2047=) n.473C>T c.2136C>T (p.Leu712=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64767741G>C | CA486735098 | SPTB | c.6141C>G (p.Leu2047=) n.473C>G c.2136C>G (p.Leu712=) | |
| 14 | g.64767741G= | CA2142797613 | SPTB | c.6141C= (p.Leu2047=) n.473C= c.2136C= (p.Leu712=) | |
| 14 | g.64767741G>T | CA486735099 | SPTB | c.6141C>A (p.Leu2047=) n.473C>A c.2136C>A (p.Leu712=) | gnomAD v4 |
| 14 | g.64767742A>C | CA390039331 | SPTB | c.6140T>G (p.Leu2047Arg) n.472T>G c.2135T>G (p.Leu712Arg) | |
| 14 | g.64767742A>G | CA390039332 | SPTB | c.6140T>C (p.Leu2047Pro) n.472T>C c.2135T>C (p.Leu712Pro) | |
| 14 | g.64767742A>T | CA390039333 | SPTB | c.6140T>A (p.Leu2047His) n.472T>A c.2135T>A (p.Leu712His) | |
| 14 | g.64767743G>A | CA390039334 | SPTB | c.6139C>T (p.Leu2047Phe) n.471C>T c.2134C>T (p.Leu712Phe) | |
| 14 | g.64767743G>C | CA390039335 | SPTB | c.6139C>G (p.Leu2047Val) n.471C>G c.2134C>G (p.Leu712Val) | |
| 14 | g.64767743G>T | CA390039336 | SPTB | c.6139C>A (p.Leu2047Ile) n.471C>A c.2134C>A (p.Leu712Ile) | |
| 14 | g.64767744C>A | CA390039337 | SPTB | c.6138G>T (p.Lys2046Asn) n.470G>T c.2133G>T (p.Lys711Asn) | |
| 14 | g.64767744C>G | CA390039338 | SPTB | c.6138G>C (p.Lys2046Asn) n.470G>C c.2133G>C (p.Lys711Asn) | |
| 14 | g.64767744C>T | CA486735100 | SPTB | c.6138G>A (p.Lys2046=) n.470G>A c.2133G>A (p.Lys711=) | |
| 14 | g.64767745T>A | CA390039341 | SPTB | c.6137A>T (p.Lys2046Met) n.469A>T c.2132A>T (p.Lys711Met) | |
| 14 | g.64767745T>C | CA390039340 | SPTB | c.6137A>G (p.Lys2046Arg) n.469A>G c.2132A>G (p.Lys711Arg) | |
| 14 | g.64767745T>G | CA390039339 | SPTB | c.6137A>C (p.Lys2046Thr) n.469A>C c.2132A>C (p.Lys711Thr) | |
| 14 | g.64767745T= | CA2142797616 | SPTB | c.6137A= (p.Lys2046=) n.469A= c.2132A= (p.Lys711=) | |
| 14 | g.64767746T>A | CA390039342 | SPTB | c.6136A>T (p.Lys2046Ter) n.468A>T c.2131A>T (p.Lys711Ter) | |
| 14 | g.64767746T>C | CA390039343 | SPTB | c.6136A>G (p.Lys2046Glu) n.468A>G c.2131A>G (p.Lys711Glu) | |
| 14 | g.64767746T>G | CA390039344 | SPTB | c.6136A>C (p.Lys2046Gln) n.468A>C c.2131A>C (p.Lys711Gln) | |
| 14 | g.64767748_64767749dup | CA278884 | SPTB | c.6135_6136dup (p.Lys2046ArgfsTer?) n.467_468dup c.2130_2131dup (p.Lys711ArgfsTer?) | ClinVar dbSNP |
| 14 | g.64767747C>A | CA390039345 | SPTB | c.6135G>T (p.Glu2045Asp) n.467G>T c.2130G>T (p.Glu710Asp) | |
| 14 | g.64767747C>G | CA390039346 | SPTB | c.6135G>C (p.Glu2045Asp) n.467G>C c.2130G>C (p.Glu710Asp) | |
| 14 | g.64767747C>T | CA486735101 | SPTB | c.6135G>A (p.Glu2045=) n.467G>A c.2130G>A (p.Glu710=) | gnomAD v4 |
| 14 | g.64767748T>A | CA390039347 | SPTB | c.6134A>T (p.Glu2045Val) n.466A>T c.2129A>T (p.Glu710Val) | |
| 14 | g.64767748T>C | CA390039349 | SPTB | c.6134A>G (p.Glu2045Gly) n.466A>G c.2129A>G (p.Glu710Gly) | |
| 14 | g.64767748T>G | CA390039348 | SPTB | c.6134A>C (p.Glu2045Ala) n.466A>C c.2129A>C (p.Glu710Ala) | |
| 14 | g.64767749C>A | CA390039350 | SPTB | c.6133G>T (p.Glu2045Ter) n.465G>T c.2128G>T (p.Glu710Ter) | |
| 14 | g.64767749C= | CA2142797619 | SPTB | c.6133G= (p.Glu2045=) n.465G= c.2128G= (p.Glu710=) | |
| 14 | g.64767749C>G | CA390039351 | SPTB | c.6133G>C (p.Glu2045Gln) n.465G>C c.2128G>C (p.Glu710Gln) | |
| 14 | g.64767749C>T | CA390039352 | SPTB | c.6133G>A (p.Glu2045Lys) n.465G>A c.2128G>A (p.Glu710Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64767750C>A | CA486735103 | SPTB | c.6132G>T (p.Val2044=) n.464G>T c.2127G>T (p.Val709=) | |
| 14 | g.64767750C= | CA2142797622 | SPTB | c.6132G= (p.Val2044=) n.464G= c.2127G= (p.Val709=) | |
| 14 | g.64767750C>G | CA486735102 | SPTB | c.6132G>C (p.Val2044=) n.464G>C c.2127G>C (p.Val709=) | |
| 14 | g.64767750C>T | CA7229754 | SPTB | c.6132G>A (p.Val2044=) n.464G>A c.2127G>A (p.Val709=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64767751A>C | CA390039353 | SPTB | c.6131T>G (p.Val2044Gly) n.463T>G c.2126T>G (p.Val709Gly) | |
| 14 | g.64767751A>G | CA390039355 | SPTB | c.6131T>C (p.Val2044Ala) n.463T>C c.2126T>C (p.Val709Ala) | |
| 14 | g.64767751A>T | CA390039354 | SPTB | c.6131T>A (p.Val2044Glu) n.463T>A c.2126T>A (p.Val709Glu) | |
| 14 | g.64767752C>A | CA390039356 | SPTB | c.6130G>T (p.Val2044Leu) n.462G>T c.2125G>T (p.Val709Leu) | |
| 14 | g.64767752C>G | CA390039357 | SPTB | c.6130G>C (p.Val2044Leu) n.462G>C c.2125G>C (p.Val709Leu) | |
| 14 | g.64767752C>T | CA390039358 | SPTB | c.6130G>A (p.Val2044Met) n.462G>A c.2125G>A (p.Val709Met) | gnomAD v4 |
| 14 | g.64767758_64767764del | CA2695219392 | SPTB | c.6124_6130del (p.Asp2042TrpfsTer?) n.456_462del c.2119_2125del (p.Asp707TrpfsTer?) | |
| 14 | g.64767753A= | CA2142797624 | SPTB | c.6129T= (p.Ser2043=) n.461T= c.2124T= (p.Ser708=) | |
| 14 | g.64767753A>C | CA390039359 | SPTB | c.6129T>G (p.Ser2043Arg) n.461T>G c.2124T>G (p.Ser708Arg) | |
| 14 | g.64767753A>G | CA486735104 | SPTB | c.6129T>C (p.Ser2043=) n.461T>C c.2124T>C (p.Ser708=) | |
| 14 | g.64767753A>T | CA390039360 | SPTB | c.6129T>A (p.Ser2043Arg) n.461T>A c.2124T>A (p.Ser708Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64767754C>A | CA390039361 | SPTB | c.6128G>T (p.Ser2043Ile) n.460G>T c.2123G>T (p.Ser708Ile) | |
| 14 | g.64767754C= | CA2142797625 | SPTB | c.6128G= (p.Ser2043=) n.460G= c.2123G= (p.Ser708=) | |
| 14 | g.64767754C>G | CA390039362 | SPTB | c.6128G>C (p.Ser2043Thr) n.460G>C c.2123G>C (p.Ser708Thr) | dbSNP gnomAD v4 |
| 14 | g.64767754C>T | CA390039363 | SPTB | c.6128G>A (p.Ser2043Asn) n.460G>A c.2123G>A (p.Ser708Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767755T>A | CA390039364 | SPTB | c.6127A>T (p.Ser2043Cys) n.459A>T c.2122A>T (p.Ser708Cys) | |
| 14 | g.64767755T>C | CA390039365 | SPTB | c.6127A>G (p.Ser2043Gly) n.459A>G c.2122A>G (p.Ser708Gly) | gnomAD v4 |
| 14 | g.64767755T>G | CA390039366 | SPTB | c.6127A>C (p.Ser2043Arg) n.459A>C c.2122A>C (p.Ser708Arg) | gnomAD v4 |
| 14 | g.64767756G>A | CA486735105 | SPTB | c.6126C>T (p.Asp2042=) n.458C>T c.2121C>T (p.Asp707=) | |
| 14 | g.64767756G>C | CA390039367 | SPTB | c.6126C>G (p.Asp2042Glu) n.458C>G c.2121C>G (p.Asp707Glu) | |
| 14 | g.64767756G>T | CA390039368 | SPTB | c.6126C>A (p.Asp2042Glu) n.458C>A c.2121C>A (p.Asp707Glu) | |
| 14 | g.64767757T>A | CA390039369 | SPTB | c.6125A>T (p.Asp2042Val) n.457A>T c.2120A>T (p.Asp707Val) | |
| 14 | g.64767757T>C | CA390039371 | SPTB | c.6125A>G (p.Asp2042Gly) n.457A>G c.2120A>G (p.Asp707Gly) | |
| 14 | g.64767757T>G | CA390039370 | SPTB | c.6125A>C (p.Asp2042Ala) n.457A>C c.2120A>C (p.Asp707Ala) | |
| 14 | g.64767758C>A | CA390039372 | SPTB | c.6124G>T (p.Asp2042Tyr) n.456G>T c.2119G>T (p.Asp707Tyr) | |
| 14 | g.64767758C>G | CA390039373 | SPTB | c.6124G>C (p.Asp2042His) n.456G>C c.2119G>C (p.Asp707His) | gnomAD v4 |
| 14 | g.64767758C>T | CA390039374 | SPTB | c.6124G>A (p.Asp2042Asn) n.456G>A c.2119G>A (p.Asp707Asn) | |
| 14 | g.64767759C>A | CA486735106 | SPTB | c.6123G>T (p.Val2041=) n.455G>T c.2118G>T (p.Val706=) | gnomAD v4 |
| 14 | g.64767759C= | CA2142797627 | SPTB | c.6123G= (p.Val2041=) n.455G= c.2118G= (p.Val706=) | |
| 14 | g.64767759C>G | CA486735107 | SPTB | c.6123G>C (p.Val2041=) n.455G>C c.2118G>C (p.Val706=) | |
| 14 | g.64767759C>T | CA7229755 | SPTB | c.6123G>A (p.Val2041=) n.455G>A c.2118G>A (p.Val706=) | dbSNP ExAC gnomAD v2 |
| 14 | g.64767760A= | CA2142797629 | SPTB | c.6122T= (p.Val2041=) n.454T= c.2117T= (p.Val706=) | |
| 14 | g.64767760A>C | CA390039375 | SPTB | c.6122T>G (p.Val2041Gly) n.454T>G c.2117T>G (p.Val706Gly) | |
| 14 | g.64767760A>G | CA390039376 | SPTB | c.6122T>C (p.Val2041Ala) n.454T>C c.2117T>C (p.Val706Ala) | dbSNP |
| 14 | g.64767760A>T | CA390039377 | SPTB | c.6122T>A (p.Val2041Glu) n.454T>A c.2117T>A (p.Val706Glu) | |
| 14 | g.64767761C>A | CA390039378 | SPTB | c.6121G>T (p.Val2041Leu) n.453G>T c.2116G>T (p.Val706Leu) | |
| 14 | g.64767761C= | CA2142797632 | SPTB | c.6121G= (p.Val2041=) n.453G= c.2116G= (p.Val706=) | |
| 14 | g.64767761C>G | CA390039379 | SPTB | c.6121G>C (p.Val2041Leu) n.453G>C c.2116G>C (p.Val706Leu) | |
| 14 | g.64767761C>T | CA7229756 | SPTB | c.6121G>A (p.Val2041Met) n.453G>A c.2116G>A (p.Val706Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.64767762T>A | CA486735108 | SPTB | c.6120A>T (p.Thr2040=) n.452A>T c.2115A>T (p.Thr705=) | |
| 14 | g.64767762T>C | CA7229757 | SPTB | c.6120A>G (p.Thr2040=) n.452A>G c.2115A>G (p.Thr705=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64767762T>G | CA486735109 | SPTB | c.6120A>C (p.Thr2040=) n.452A>C c.2115A>C (p.Thr705=) | |
| 14 | g.64767762T= | CA2142797634 | SPTB | c.6120A= (p.Thr2040=) n.452A= c.2115A= (p.Thr705=) | |
| 14 | g.64767767_64767768del | CA2580613698 | SPTB | c.6119_6120del (p.Thr2040SerfsTer12) n.451_452del c.2114_2115del (p.Thr705SerfsTer12) | ClinVar dbSNP |
| 14 | g.64767763G>A | CA390039382 | SPTB | c.6119C>T (p.Thr2040Ile) n.451C>T c.2114C>T (p.Thr705Ile) | ClinVar dbSNP |
| 14 | g.64767763G>C | CA390039380 | SPTB | c.6119C>G (p.Thr2040Arg) n.451C>G c.2114C>G (p.Thr705Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64767763G= | CA2142797636 | SPTB | c.6119C= (p.Thr2040=) n.451C= c.2114C= (p.Thr705=) | |
| 14 | g.64767763G>T | CA390039381 | SPTB | c.6119C>A (p.Thr2040Lys) n.451C>A c.2114C>A (p.Thr705Lys) | |
| 14 | g.64767764T>A | CA390039383 | SPTB | c.6118A>T (p.Thr2040Ser) n.450A>T c.2113A>T (p.Thr705Ser) | |
| 14 | g.64767764T>C | CA390039384 | SPTB | c.6118A>G (p.Thr2040Ala) n.450A>G c.2113A>G (p.Thr705Ala) | |
| 14 | g.64767764T>G | CA390039385 | SPTB | c.6118A>C (p.Thr2040Pro) n.450A>C c.2113A>C (p.Thr705Pro) | |
| 14 | g.64767765G>A | CA486735110 | SPTB | c.6117C>T (p.His2039=) n.449C>T c.2112C>T (p.His704=) | |
| 14 | g.64767765G>C | CA390039386 | SPTB | c.6117C>G (p.His2039Gln) n.449C>G c.2112C>G (p.His704Gln) | |
| 14 | g.64767765G>T | CA390039387 | SPTB | c.6117C>A (p.His2039Gln) n.449C>A c.2112C>A (p.His704Gln) | |
| 14 | g.64767766T>A | CA390039388 | SPTB | c.6116A>T (p.His2039Leu) n.448A>T c.2111A>T (p.His704Leu) | |
| 14 | g.64767766T>C | CA390039389 | SPTB | c.6116A>G (p.His2039Arg) n.448A>G c.2111A>G (p.His704Arg) | |
| 14 | g.64767766T>G | CA390039390 | SPTB | c.6116A>C (p.His2039Pro) n.448A>C c.2111A>C (p.His704Pro) | |
| 14 | g.64767767G>A | CA7229758 | SPTB | c.6115C>T (p.His2039Tyr) n.447C>T c.2110C>T (p.His704Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767767G>C | CA390039391 | SPTB | c.6115C>G (p.His2039Asp) n.447C>G c.2110C>G (p.His704Asp) | gnomAD v4 |
| 14 | g.64767767G= | CA2142797639 | SPTB | c.6115C= (p.His2039=) n.447C= c.2110C= (p.His704=) | |
| 14 | g.64767767G>T | CA390039392 | SPTB | c.6115C>A (p.His2039Asn) n.447C>A c.2110C>A (p.His704Asn) | |
| 14 | g.64767768T>A | CA486735111 | SPTB | c.6114A>T (p.Gly2038=) n.446A>T c.2109A>T (p.Gly703=) | |
| 14 | g.64767768T>C | CA486735112 | SPTB | c.6114A>G (p.Gly2038=) n.446A>G c.2109A>G (p.Gly703=) | gnomAD v4 |
| 14 | g.64767768T>G | CA486735113 | SPTB | c.6114A>C (p.Gly2038=) n.446A>C c.2109A>C (p.Gly703=) | |
| 14 | g.64767769C>A | CA390039394 | SPTB | c.6113G>T (p.Gly2038Val) n.445G>T c.2108G>T (p.Gly703Val) | COSMIC COSMIC |
| 14 | g.64767769C>G | CA390039395 | SPTB | c.6113G>C (p.Gly2038Ala) n.445G>C c.2108G>C (p.Gly703Ala) | |
| 14 | g.64767769C>T | CA390039393 | SPTB | c.6113G>A (p.Gly2038Glu) n.445G>A c.2108G>A (p.Gly703Glu) | |
| 14 | g.64767770C>A | CA390039397 | SPTB | c.6112G>T (p.Gly2038Ter) n.444G>T c.2107G>T (p.Gly703Ter) | |
| 14 | g.64767770C>G | CA390039398 | SPTB | c.6112G>C (p.Gly2038Arg) n.444G>C c.2107G>C (p.Gly703Arg) | |
| 14 | g.64767770C>T | CA390039400 | SPTB | c.6112G>A (p.Gly2038Arg) n.444G>A c.2107G>A (p.Gly703Arg) | |
| 14 | g.64767771A>C | CA390039401 | SPTB | c.6111T>G (p.Phe2037Leu) n.443T>G c.2106T>G (p.Phe702Leu) | |
| 14 | g.64767771A>G | CA486735114 | SPTB | c.6111T>C (p.Phe2037=) n.443T>C c.2106T>C (p.Phe702=) | |
| 14 | g.64767771A>T | CA390039402 | SPTB | c.6111T>A (p.Phe2037Leu) n.443T>A c.2106T>A (p.Phe702Leu) | |
| 14 | g.64767772A>C | CA390039403 | SPTB | c.6110T>G (p.Phe2037Cys) n.442T>G c.2105T>G (p.Phe702Cys) | |
| 14 | g.64767772A>G | CA390039404 | SPTB | c.6110T>C (p.Phe2037Ser) n.442T>C c.2105T>C (p.Phe702Ser) | |
| 14 | g.64767772A>T | CA390039405 | SPTB | c.6110T>A (p.Phe2037Tyr) n.442T>A c.2105T>A (p.Phe702Tyr) | |
| 14 | g.64767773A>C | CA390039406 | SPTB | c.6109T>G (p.Phe2037Val) n.441T>G c.2104T>G (p.Phe702Val) | |
| 14 | g.64767773A>G | CA390039407 | SPTB | c.6109T>C (p.Phe2037Leu) n.441T>C c.2104T>C (p.Phe702Leu) | |
| 14 | g.64767773A>T | CA390039408 | SPTB | c.6109T>A (p.Phe2037Ile) n.441T>A c.2104T>A (p.Phe702Ile) | |
| 14 | g.64767774G>A | CA486735115 | SPTB | c.6108C>T (p.Asp2036=) n.440C>T c.2103C>T (p.Asp701=) | COSMIC |
| 14 | g.64767774G>C | CA390039409 | SPTB | c.6108C>G (p.Asp2036Glu) n.440C>G c.2103C>G (p.Asp701Glu) | |
| 14 | g.64767774G>T | CA390039410 | SPTB | c.6108C>A (p.Asp2036Glu) n.440C>A c.2103C>A (p.Asp701Glu) | |
| 14 | g.64767775T>A | CA390039413 | SPTB | c.6107A>T (p.Asp2036Val) n.439A>T c.2102A>T (p.Asp701Val) | |
| 14 | g.64767775T>C | CA390039412 | SPTB | c.6107A>G (p.Asp2036Gly) n.439A>G c.2102A>G (p.Asp701Gly) | dbSNP |
| 14 | g.64767775T>G | CA390039411 | SPTB | c.6107A>C (p.Asp2036Ala) n.439A>C c.2102A>C (p.Asp701Ala) | |
| 14 | g.64767775T= | CA2142797641 | SPTB | c.6107A= (p.Asp2036=) n.439A= c.2102A= (p.Asp701=) | |
| 14 | g.64767776C>A | CA390039414 | SPTB | c.6106G>T (p.Asp2036Tyr) n.438G>T c.2101G>T (p.Asp701Tyr) | |
| 14 | g.64767776C>G | CA390039415 | SPTB | c.6106G>C (p.Asp2036His) n.438G>C c.2101G>C (p.Asp701His) | |
| 14 | g.64767776C>T | CA390039416 | SPTB | c.6106G>A (p.Asp2036Asn) n.438G>A c.2101G>A (p.Asp701Asn) | |
| 14 | g.64767777C>A | CA486735116 | SPTB | c.6105G>T (p.Gly2035=) n.437G>T c.2100G>T (p.Gly700=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64767777C= | CA2142797643 | SPTB | c.6105G= (p.Gly2035=) n.437G= c.2100G= (p.Gly700=) | |
| 14 | g.64767777C>G | CA486735117 | SPTB | c.6105G>C (p.Gly2035=) n.437G>C c.2100G>C (p.Gly700=) | |
| 14 | g.64767777C>T | CA486735118 | SPTB | c.6105G>A (p.Gly2035=) n.437G>A c.2100G>A (p.Gly700=) | COSMIC COSMIC |
| 14 | g.64767778C>A | CA390039417 | SPTB | c.6104G>T (p.Gly2035Val) n.436G>T c.2099G>T (p.Gly700Val) | |
| 14 | g.64767778C>G | CA390039418 | SPTB | c.6104G>C (p.Gly2035Ala) n.436G>C c.2099G>C (p.Gly700Ala) | |
| 14 | g.64767778C>T | CA390039419 | SPTB | c.6104G>A (p.Gly2035Glu) n.436G>A c.2099G>A (p.Gly700Glu) | |
| 14 | g.64767779C>A | CA390039420 | SPTB | c.6103G>T (p.Gly2035Trp) n.435G>T c.2098G>T (p.Gly700Trp) | dbSNP gnomAD v4 |
| 14 | g.64767779C= | CA2142797646 | SPTB | c.6103G= (p.Gly2035=) n.435G= c.2098G= (p.Gly700=) | |
| 14 | g.64767779C>G | CA390039421 | SPTB | c.6103G>C (p.Gly2035Arg) n.435G>C c.2098G>C (p.Gly700Arg) | |
| 14 | g.64767779C>T | CA390039422 | SPTB | c.6103G>A (p.Gly2035Arg) n.435G>A c.2098G>A (p.Gly700Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767780G>A | CA7229759 | SPTB | c.6102C>T (p.Ser2034=) n.434C>T c.2097C>T (p.Ser699=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767780G>C | CA390039423 | SPTB | c.6102C>G (p.Ser2034Arg) n.434C>G c.2097C>G (p.Ser699Arg) | dbSNP |
| 14 | g.64767780G= | CA2142797648 | SPTB | c.6102C= (p.Ser2034=) n.434C= c.2097C= (p.Ser699=) | |
| 14 | g.64767780G>T | CA390039424 | SPTB | c.6102C>A (p.Ser2034Arg) n.434C>A c.2097C>A (p.Ser699Arg) | |
| 14 | g.64767780dup | CA614736392 | SPTB | c.6102dup (p.Gly2035ArgfsTer18) n.434dup c.2097dup (p.Gly700ArgfsTer18) | dbSNP gnomAD v2 |