UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 14 | g.64767781C>A | CA390039425 | SPTB | c.6101G>T (p.Ser2034Ile) n.433G>T c.2096G>T (p.Ser699Ile) | |
| 14 | g.64767781C= | CA2142797650 | SPTB | c.6101G= (p.Ser2034=) n.433G= c.2096G= (p.Ser699=) | |
| 14 | g.64767781C>G | CA390039426 | SPTB | c.6101G>C (p.Ser2034Thr) n.433G>C c.2096G>C (p.Ser699Thr) | |
| 14 | g.64767781C>T | CA262682837 | SPTB | c.6101G>A (p.Ser2034Asn) n.433G>A c.2096G>A (p.Ser699Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.64767782T>A | CA390039427 | SPTB | c.6100A>T (p.Ser2034Cys) n.432A>T c.2095A>T (p.Ser699Cys) | |
| 14 | g.64767782T>C | CA390039429 | SPTB | c.6100A>G (p.Ser2034Gly) n.432A>G c.2095A>G (p.Ser699Gly) | |
| 14 | g.64767782T>G | CA390039428 | SPTB | c.6100A>C (p.Ser2034Arg) n.432A>C c.2095A>C (p.Ser699Arg) | |
| 14 | g.64767783G>A | CA486735119 | SPTB | c.6099C>T (p.Ala2033=) n.431C>T c.2094C>T (p.Ala698=) | gnomAD v4 |
| 14 | g.64767783G>C | CA486735120 | SPTB | c.6099C>G (p.Ala2033=) n.431C>G c.2094C>G (p.Ala698=) | |
| 14 | g.64767783G>T | CA486735121 | SPTB | c.6099C>A (p.Ala2033=) n.431C>A c.2094C>A (p.Ala698=) | |
| 14 | g.64767784G>A | CA390039430 | SPTB | c.6098C>T (p.Ala2033Val) n.430C>T c.2093C>T (p.Ala698Val) | |
| 14 | g.64767784G>C | CA390039432 | SPTB | c.6098C>G (p.Ala2033Gly) n.430C>G c.2093C>G (p.Ala698Gly) | |
| 14 | g.64767784G>T | CA390039431 | SPTB | c.6098C>A (p.Ala2033Asp) n.430C>A c.2093C>A (p.Ala698Asp) | |
| 14 | g.64767785C>A | CA390039433 | SPTB | c.6097G>T (p.Ala2033Ser) n.429G>T c.2092G>T (p.Ala698Ser) | |
| 14 | g.64767785C>G | CA390039434 | SPTB | c.6097G>C (p.Ala2033Pro) n.429G>C c.2092G>C (p.Ala698Pro) | |
| 14 | g.64767785C>T | CA390039435 | SPTB | c.6097G>A (p.Ala2033Thr) n.429G>A c.2092G>A (p.Ala698Thr) | |
| 14 | g.64767786C>A | CA486735122 | SPTB | c.6096G>T (p.Leu2032=) n.428G>T c.2091G>T (p.Leu697=) | |
| 14 | g.64767786C= | CA2142797652 | SPTB | c.6096G= (p.Leu2032=) n.428G= c.2091G= (p.Leu697=) | |
| 14 | g.64767786C>G | CA486735123 | SPTB | c.6096G>C (p.Leu2032=) n.428G>C c.2091G>C (p.Leu697=) | |
| 14 | g.64767786C>T | CA486735124 | SPTB | c.6096G>A (p.Leu2032=) n.428G>A c.2091G>A (p.Leu697=) | dbSNP gnomAD v4 |
| 14 | g.64767787A= | CA2142797655 | SPTB | c.6095T= (p.Leu2032=) n.427T= c.2090T= (p.Leu697=) | |
| 14 | g.64767787A>C | CA390039436 | SPTB | c.6095T>G (p.Leu2032Arg) n.427T>G c.2090T>G (p.Leu697Arg) | |
| 14 | g.64767787A>G | CA390039437 | SPTB | c.6095T>C (p.Leu2032Pro) n.427T>C c.2090T>C (p.Leu697Pro) | ClinVar dbSNP gnomAD v4 |
| 14 | g.64767787A>T | CA390039438 | SPTB | c.6095T>A (p.Leu2032Gln) n.427T>A c.2090T>A (p.Leu697Gln) | |
| 14 | g.64767788G>A | CA486735125 | SPTB | c.6094C>T (p.Leu2032=) n.426C>T c.2089C>T (p.Leu697=) | gnomAD v4 |
| 14 | g.64767788G>C | CA390039439 | SPTB | c.6094C>G (p.Leu2032Val) n.426C>G c.2089C>G (p.Leu697Val) | gnomAD v4 |
| 14 | g.64767788G>T | CA390039440 | SPTB | c.6094C>A (p.Leu2032Met) n.426C>A c.2089C>A (p.Leu697Met) | |
| 14 | g.64767789G>A | CA486735126 | SPTB | c.6093C>T (p.Tyr2031=) n.425C>T c.2088C>T (p.Tyr696=) | |
| 14 | g.64767789G>C | CA390039441 | SPTB | c.6093C>G (p.Tyr2031Ter) n.425C>G c.2088C>G (p.Tyr696Ter) | |
| 14 | g.64767789G>T | CA390039442 | SPTB | c.6093C>A (p.Tyr2031Ter) n.425C>A c.2088C>A (p.Tyr696Ter) | |
| 14 | g.64767790T>A | CA390039445 | SPTB | c.6092A>T (p.Tyr2031Phe) n.424A>T c.2087A>T (p.Tyr696Phe) | |
| 14 | g.64767790T>C | CA390039444 | SPTB | c.6092A>G (p.Tyr2031Cys) n.424A>G c.2087A>G (p.Tyr696Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64767790T>G | CA390039443 | SPTB | c.6092A>C (p.Tyr2031Ser) n.424A>C c.2087A>C (p.Tyr696Ser) | |
| 14 | g.64767790T= | CA2142797657 | SPTB | c.6092A= (p.Tyr2031=) n.424A= c.2087A= (p.Tyr696=) | |
| 14 | g.64767791A>C | CA390039446 | SPTB | c.6091T>G (p.Tyr2031Asp) n.423T>G c.2086T>G (p.Tyr696Asp) | |
| 14 | g.64767791A>G | CA390039447 | SPTB | c.6091T>C (p.Tyr2031His) n.423T>C c.2086T>C (p.Tyr696His) | gnomAD v4 |
| 14 | g.64767791A>T | CA390039448 | SPTB | c.6091T>A (p.Tyr2031Asn) n.423T>A c.2086T>A (p.Tyr696Asn) | |
| 14 | g.64767792G>A | CA486735127 | SPTB | c.6090C>T (p.Pro2030=) n.422C>T c.2085C>T (p.Pro695=) | |
| 14 | g.64767792G>C | CA486735128 | SPTB | c.6090C>G (p.Pro2030=) n.422C>G c.2085C>G (p.Pro695=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767792G= | CA2142797659 | SPTB | c.6090C= (p.Pro2030=) n.422C= c.2085C= (p.Pro695=) | |
| 14 | g.64767792G>T | CA486735129 | SPTB | c.6090C>A (p.Pro2030=) n.422C>A c.2085C>A (p.Pro695=) | |
| 14 | g.64767793G>A | CA390039449 | SPTB | c.6089C>T (p.Pro2030Leu) n.421C>T c.2084C>T (p.Pro695Leu) | |
| 14 | g.64767793G>C | CA390039450 | SPTB | c.6089C>G (p.Pro2030Arg) n.421C>G c.2084C>G (p.Pro695Arg) | |
| 14 | g.64767793G>T | CA390039451 | SPTB | c.6089C>A (p.Pro2030His) n.421C>A c.2084C>A (p.Pro695His) | gnomAD v4 |
| 14 | g.64767794G>A | CA390039452 | SPTB | c.6088C>T (p.Pro2030Ser) n.420C>T c.2083C>T (p.Pro695Ser) | |
| 14 | g.64767794G>C | CA390039453 | SPTB | c.6088C>G (p.Pro2030Ala) n.420C>G c.2083C>G (p.Pro695Ala) | |
| 14 | g.64767794G>T | CA390039454 | SPTB | c.6088C>A (p.Pro2030Thr) n.420C>A c.2083C>A (p.Pro695Thr) | |
| 14 | g.64767795C>A | CA390039455 | SPTB | c.6087G>T (p.Glu2029Asp) n.419G>T c.2082G>T (p.Glu694Asp) | |
| 14 | g.64767795C>G | CA390039456 | SPTB | c.6087G>C (p.Glu2029Asp) n.419G>C c.2082G>C (p.Glu694Asp) | |
| 14 | g.64767795C>T | CA486735130 | SPTB | c.6087G>A (p.Glu2029=) n.419G>A c.2082G>A (p.Glu694=) | |
| 14 | g.64767796T>A | CA390039459 | SPTB | c.6086A>T (p.Glu2029Val) n.418A>T c.2081A>T (p.Glu694Val) | |
| 14 | g.64767796T>C | CA390039458 | SPTB | c.6086A>G (p.Glu2029Gly) n.418A>G c.2081A>G (p.Glu694Gly) | |
| 14 | g.64767796T>G | CA390039457 | SPTB | c.6086A>C (p.Glu2029Ala) n.418A>C c.2081A>C (p.Glu694Ala) | |
| 14 | g.64767797C>A | CA390039460 | SPTB | c.6085G>T (p.Glu2029Ter) n.417G>T c.2080G>T (p.Glu694Ter) | |
| 14 | g.64767797C>G | CA390039461 | SPTB | c.6085G>C (p.Glu2029Gln) n.417G>C c.2080G>C (p.Glu694Gln) | |
| 14 | g.64767797C>T | CA390039462 | SPTB | c.6085G>A (p.Glu2029Lys) n.417G>A c.2080G>A (p.Glu694Lys) | |
| 14 | g.64767798C>A | CA390039463 | SPTB | c.6084G>T (p.Gln2028His) n.416G>T c.2079G>T (p.Gln693His) | |
| 14 | g.64767798C>G | CA390039464 | SPTB | c.6084G>C (p.Gln2028His) n.416G>C c.2079G>C (p.Gln693His) | |
| 14 | g.64767798C>T | CA486735131 | SPTB | c.6084G>A (p.Gln2028=) n.416G>A c.2079G>A (p.Gln693=) | gnomAD v4 |
| 14 | g.64767799T>A | CA390039465 | SPTB | c.6083A>T (p.Gln2028Leu) n.415A>T c.2078A>T (p.Gln693Leu) | |
| 14 | g.64767799T>C | CA390039466 | SPTB | c.6083A>G (p.Gln2028Arg) n.415A>G c.2078A>G (p.Gln693Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.64767799T>G | CA390039467 | SPTB | c.6083A>C (p.Gln2028Pro) n.415A>C c.2078A>C (p.Gln693Pro) | |
| 14 | g.64767799T= | CA2142797661 | SPTB | c.6083A= (p.Gln2028=) n.415A= c.2078A= (p.Gln693=) | |
| 14 | g.64767800G>A | CA390039468 | SPTB | c.6082C>T (p.Gln2028Ter) n.414C>T c.2077C>T (p.Gln693Ter) | |
| 14 | g.64767800G>C | CA390039469 | SPTB | c.6082C>G (p.Gln2028Glu) n.414C>G c.2077C>G (p.Gln693Glu) | |
| 14 | g.64767800G>T | CA390039470 | SPTB | c.6082C>A (p.Gln2028Lys) n.414C>A c.2077C>A (p.Gln693Lys) | |
| 14 | g.64767801G>A | CA486735132 | SPTB | c.6081C>T (p.Ala2027=) n.413C>T c.2076C>T (p.Ala692=) | gnomAD v4 |
| 14 | g.64767801G>C | CA486735133 | SPTB | c.6081C>G (p.Ala2027=) n.413C>G c.2076C>G (p.Ala692=) | |
| 14 | g.64767801G>T | CA486735134 | SPTB | c.6081C>A (p.Ala2027=) n.413C>A c.2076C>A (p.Ala692=) | |
| 14 | g.64767802G>A | CA390039473 | SPTB | c.6080C>T (p.Ala2027Val) n.412C>T c.2075C>T (p.Ala692Val) | COSMIC COSMIC |
| 14 | g.64767802G>C | CA390039472 | SPTB | c.6080C>G (p.Ala2027Gly) n.412C>G c.2075C>G (p.Ala692Gly) | |
| 14 | g.64767802G>T | CA390039471 | SPTB | c.6080C>A (p.Ala2027Asp) n.412C>A c.2075C>A (p.Ala692Asp) | |
| 14 | g.64767803C>A | CA390039474 | SPTB | c.6079G>T (p.Ala2027Ser) n.411G>T c.2074G>T (p.Ala692Ser) | |
| 14 | g.64767803C>G | CA390039475 | SPTB | c.6079G>C (p.Ala2027Pro) n.411G>C c.2074G>C (p.Ala692Pro) | |
| 14 | g.64767803C>T | CA390039476 | SPTB | c.6079G>A (p.Ala2027Thr) n.411G>A c.2074G>A (p.Ala692Thr) | |
| 14 | g.64767804A>C | CA390039477 | SPTB | c.6078T>G (p.Ile2026Met) n.410T>G c.2073T>G (p.Ile691Met) | |
| 14 | g.64767804A>G | CA486735136 | SPTB | c.6078T>C (p.Ile2026=) n.410T>C c.2073T>C (p.Ile691=) | |
| 14 | g.64767804A>T | CA486735135 | SPTB | c.6078T>A (p.Ile2026=) n.410T>A c.2073T>A (p.Ile691=) | |
| 14 | g.64767805A>C | CA390039478 | SPTB | c.6077T>G (p.Ile2026Ser) n.409T>G c.2072T>G (p.Ile691Ser) | |
| 14 | g.64767805A>G | CA390039479 | SPTB | c.6077T>C (p.Ile2026Thr) n.409T>C c.2072T>C (p.Ile691Thr) | |
| 14 | g.64767805A>T | CA390039480 | SPTB | c.6077T>A (p.Ile2026Asn) n.409T>A c.2072T>A (p.Ile691Asn) | |
| 14 | g.64767806T>A | CA390039481 | SPTB | c.6076A>T (p.Ile2026Phe) n.408A>T c.2071A>T (p.Ile691Phe) | |
| 14 | g.64767806T>C | CA390039482 | SPTB | c.6076A>G (p.Ile2026Val) n.408A>G c.2071A>G (p.Ile691Val) | gnomAD v4 |
| 14 | g.64767806T>G | CA390039484 | SPTB | c.6076A>C (p.Ile2026Leu) n.408A>C c.2071A>C (p.Ile691Leu) | |
| 14 | g.64767807C>A | CA486735137 | SPTB | c.6075G>T (p.Leu2025=) n.407G>T c.2070G>T (p.Leu690=) | |
| 14 | g.64767807C= | CA2142797663 | SPTB | c.6075G= (p.Leu2025=) n.407G= c.2070G= (p.Leu690=) | |
| 14 | g.64767807C>G | CA486735138 | SPTB | c.6075G>C (p.Leu2025=) n.407G>C c.2070G>C (p.Leu690=) | |
| 14 | g.64767807C>T | CA486735139 | SPTB | c.6075G>A (p.Leu2025=) n.407G>A c.2070G>A (p.Leu690=) | dbSNP gnomAD v4 |
| 14 | g.64767808A= | CA2142797665 | SPTB | c.6074T= (p.Leu2025=) n.406T= c.2069T= (p.Leu690=) | |
| 14 | g.64767808A>C | CA122743 | SPTB | c.6074T>G (p.Leu2025Arg) n.406T>G c.2069T>G (p.Leu690Arg) | ClinVar dbSNP COSMIC COSMIC |
| 14 | g.64767808A>G | CA390039486 | SPTB | c.6074T>C (p.Leu2025Pro) n.406T>C c.2069T>C (p.Leu690Pro) | |
| 14 | g.64767808A>T | CA390039487 | SPTB | c.6074T>A (p.Leu2025Gln) n.406T>A c.2069T>A (p.Leu690Gln) | |
| 14 | g.64767809G>A | CA486735140 | SPTB | c.6073C>T (p.Leu2025=) n.405C>T c.2068C>T (p.Leu690=) | |
| 14 | g.64767809G>C | CA390039488 | SPTB | c.6073C>G (p.Leu2025Val) n.405C>G c.2068C>G (p.Leu690Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64767809G= | CA2142797669 | SPTB | c.6073C= (p.Leu2025=) n.405C= c.2068C= (p.Leu690=) | |
| 14 | g.64767809G>T | CA390039489 | SPTB | c.6073C>A (p.Leu2025Met) n.405C>A c.2068C>A (p.Leu690Met) | |
| 14 | g.64767810C>A | CA390039490 | SPTB | c.6072G>T (p.Trp2024Cys) n.404G>T c.2067G>T (p.Trp689Cys) | |
| 14 | g.64767810C>G | CA390039492 | SPTB | c.6072G>C (p.Trp2024Cys) n.404G>C c.2067G>C (p.Trp689Cys) | |
| 14 | g.64767810C>T | CA390039491 | SPTB | c.6072G>A (p.Trp2024Ter) n.404G>A c.2067G>A (p.Trp689Ter) | |
| 14 | g.64767811C>A | CA390039493 | SPTB | c.6071G>T (p.Trp2024Leu) n.403G>T c.2066G>T (p.Trp689Leu) | |
| 14 | g.64767811C= | CA2142797671 | SPTB | c.6071G= (p.Trp2024=) n.403G= c.2066G= (p.Trp689=) | |
| 14 | g.64767811C>G | CA390039494 | SPTB | c.6071G>C (p.Trp2024Ser) n.403G>C c.2066G>C (p.Trp689Ser) | |
| 14 | g.64767811C>T | CA390039496 | SPTB | c.6071G>A (p.Trp2024Ter) n.403G>A c.2066G>A (p.Trp689Ter) | ClinVar dbSNP |
| 14 | g.64767812A= | CA2142797672 | SPTB | c.6070T= (p.Trp2024=) n.402T= c.2065T= (p.Trp689=) | |
| 14 | g.64767812A>C | CA390039497 | SPTB | c.6070T>G (p.Trp2024Gly) n.402T>G c.2065T>G (p.Trp689Gly) | |
| 14 | g.64767812A>G | CA390039498 | SPTB | c.6070T>C (p.Trp2024Arg) n.402T>C c.2065T>C (p.Trp689Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64767812A>T | CA390039499 | SPTB | c.6070T>A (p.Trp2024Arg) n.402T>A c.2065T>A (p.Trp689Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767813C>A | CA7229761 | SPTB | c.6069G>T (p.Ala2023=) n.401G>T c.2064G>T (p.Ala688=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.64767813C= | CA2142797675 | SPTB | c.6069G= (p.Ala2023=) n.401G= c.2064G= (p.Ala688=) | |
| 14 | g.64767813C>G | CA486735141 | SPTB | c.6069G>C (p.Ala2023=) n.401G>C c.2064G>C (p.Ala688=) | |
| 14 | g.64767813C>T | CA7229760 | SPTB | c.6069G>A (p.Ala2023=) n.401G>A c.2064G>A (p.Ala688=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64767814G>A | CA7229762 | SPTB | c.6068C>T (p.Ala2023Val) n.400C>T c.2063C>T (p.Ala688Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.64767814G>C | CA390039500 | SPTB | c.6068C>G (p.Ala2023Gly) n.400C>G c.2063C>G (p.Ala688Gly) | gnomAD v4 |
| 14 | g.64767814G= | CA2142797677 | SPTB | c.6068C= (p.Ala2023=) n.400C= c.2063C= (p.Ala688=) | |
| 14 | g.64767814G>T | CA390039501 | SPTB | c.6068C>A (p.Ala2023Glu) n.400C>A c.2063C>A (p.Ala688Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.64767815C>A | CA390039504 | SPTB | c.6067G>T (p.Ala2023Ser) n.399G>T c.2062G>T (p.Ala688Ser) | |
| 14 | g.64767815C>G | CA390039503 | SPTB | c.6067G>C (p.Ala2023Pro) n.399G>C c.2062G>C (p.Ala688Pro) | |
| 14 | g.64767815C>T | CA390039502 | SPTB | c.6067G>A (p.Ala2023Thr) n.399G>A c.2062G>A (p.Ala688Thr) |