Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.7579699A>C | CA362684225 | DSP | c.3509A>C (p.Glu1170Ala) | |
6 | g.7579699A>G | CA362684226 | DSP | c.3509A>G (p.Glu1170Gly) | COSMIC |
6 | g.7579699A>T | CA362684227 | DSP | c.3509A>T (p.Glu1170Val) | |
6 | g.7579700G>A | CA005826 | DSP | c.3510G>A (p.Glu1170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579700G>C | CA362684228 | DSP | c.3510G>C (p.Glu1170Asp) | |
6 | g.7579700G= | CA1608614558 | DSP | c.3510G= (p.Glu1170=) | |
6 | g.7579700G>T | CA362684229 | DSP | c.3510G>T (p.Glu1170Asp) | |
6 | g.7579701A>C | CA362684230 | DSP | c.3511A>C (p.Ile1171Leu) | |
6 | g.7579701A>G | CA362684231 | DSP | c.3511A>G (p.Ile1171Val) | |
6 | g.7579701A>T | CA362684232 | DSP | c.3511A>T (p.Ile1171Phe) | |
6 | g.7579702T>A | CA362684234 | DSP | c.3512T>A (p.Ile1171Asn) | |
6 | g.7579702T>C | CA038290 | DSP | c.3512T>C (p.Ile1171Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579702T>G | CA362684233 | DSP | c.3512T>G (p.Ile1171Ser) | |
6 | g.7579702T= | CA1608614563 | DSP | c.3512T= (p.Ile1171=) | |
6 | g.7579703T>A | CA448714195 | DSP | c.3513T>A (p.Ile1171=) | dbSNP |
6 | g.7579703T>C | CA448714196 | DSP | c.3513T>C (p.Ile1171=) | |
6 | g.7579703T>G | CA362684235 | DSP | c.3513T>G (p.Ile1171Met) | ClinVar |
6 | g.7579703T= | CA1608614568 | DSP | c.3513T= (p.Ile1171=) | |
6 | g.7579704G>A | CA362684236 | DSP | c.3514G>A (p.Glu1172Lys) | COSMIC |
6 | g.7579704G>C | CA362684238 | DSP | c.3514G>C (p.Glu1172Gln) | |
6 | g.7579704G>T | CA362684237 | DSP | c.3514G>T (p.Glu1172Ter) | |
6 | g.7579705A>C | CA362684239 | DSP | c.3515A>C (p.Glu1172Ala) | |
6 | g.7579705A>G | CA362684241 | DSP | c.3515A>G (p.Glu1172Gly) | |
6 | g.7579705A>T | CA362684240 | DSP | c.3515A>T (p.Glu1172Val) | |
6 | g.7579707del | CA2580614831 | DSP | c.3517del (p.Arg1173GlyfsTer2) | ClinVar |
6 | g.7579706A= | CA1608614572 | DSP | c.3516A= (p.Glu1172=) | |
6 | g.7579706A>C | CA362684242 | DSP | c.3516A>C (p.Glu1172Asp) | |
6 | g.7579706A>G | CA448714198 | DSP | c.3516A>G (p.Glu1172=) | dbSNP |
6 | g.7579706A>T | CA362684243 | DSP | c.3516A>T (p.Glu1172Asp) | |
6 | g.7579707A>C | CA448714199 | DSP | c.3517A>C (p.Arg1173=) | |
6 | g.7579707A>G | CA362684244 | DSP | c.3517A>G (p.Arg1173Gly) | |
6 | g.7579707A>T | CA362684245 | DSP | c.3517A>T (p.Arg1173Trp) | |
6 | g.7579708G>A | CA362684246 | DSP | c.3518G>A (p.Arg1173Lys) | |
6 | g.7579708G>C | CA362684247 | DSP | c.3518G>C (p.Arg1173Thr) | |
6 | g.7579708G>T | CA362684248 | DSP | c.3518G>T (p.Arg1173Met) | ClinVar |
6 | g.7579709G>A | CA448714201 | DSP | c.3519G>A (p.Arg1173=) | ClinVar gnomAD v4 |
6 | g.7579709G>C | CA362684249 | DSP | c.3519G>C (p.Arg1173Ser) | gnomAD v4 |
6 | g.7579709G>T | CA362684250 | DSP | c.3519G>T (p.Arg1173Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579710T>A | CA362684251 | DSP | c.3520T>A (p.Leu1174Met) | |
6 | g.7579710T>C | CA448714202 | DSP | c.3520T>C (p.Leu1174=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579710T>G | CA362684252 | DSP | c.3520T>G (p.Leu1174Val) | |
6 | g.7579710T= | CA1608614575 | DSP | c.3520T= (p.Leu1174=) | |
6 | g.7579711T>A | CA362684255 | DSP | c.3521T>A (p.Leu1174Ter) | |
6 | g.7579711T>C | CA362684253 | DSP | c.3521T>C (p.Leu1174Ser) | ClinVar |
6 | g.7579711T>G | CA362684254 | DSP | c.3521T>G (p.Leu1174Trp) | gnomAD v3 gnomAD v4 |
6 | g.7579712G>A | CA448714216 | DSP | c.3522G>A (p.Leu1174=) | ClinVar gnomAD v4 |
6 | g.7579712G>C | CA362684256 | DSP | c.3522G>C (p.Leu1174Phe) | |
6 | g.7579712G= | CA1608614582 | DSP | c.3522G= (p.Leu1174=) | |
6 | g.7579712G>T | CA362684257 | DSP | c.3522G>T (p.Leu1174Phe) | |
6 | g.7579712_7579713insGTCAT | CA1608614585 | DSP | c.3522_3523insGTCAT (p.Arg1175ValfsTer23) c.3522_3523insGTCAT (p.Arg1175ValfsTer?) | dbSNP |
6 | g.7579713A>C | CA448714217 | DSP | c.3523A>C (p.Arg1175=) | |
6 | g.7579713A>G | CA362684258 | DSP | c.3523A>G (p.Arg1175Gly) | |
6 | g.7579713A>T | CA362684259 | DSP | c.3523A>T (p.Arg1175Trp) | |
6 | g.7579713_7579714delinsAG | CA1608614587 | DSP | c.3523_3524delinsAG (p.Arg1175=) | |
6 | g.7579714G>A | CA362684260 | DSP | c.3524G>A (p.Arg1175Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.7579714G>C | CA362684261 | DSP | c.3524G>C (p.Arg1175Thr) | gnomAD v4 |
6 | g.7579714G= | CA1608614592 | DSP | c.3524G= (p.Arg1175=) | |
6 | g.7579714G>T | CA362684262 | DSP | c.3524G>T (p.Arg1175Met) | |
6 | g.7579716del | CA005835 | DSP | c.3526del (p.Val1176PhefsTer20) c.3526del (p.Val1176PhefsTer?) | ClinVar dbSNP |
6 | g.7579715G>A | CA448714219 | DSP | c.3525G>A (p.Arg1175=) | dbSNP |
6 | g.7579715G>C | CA362684263 | DSP | c.3525G>C (p.Arg1175Ser) | |
6 | g.7579715G= | CA1608614593 | DSP | c.3525G= (p.Arg1175=) | |
6 | g.7579715G>T | CA362684264 | DSP | c.3525G>T (p.Arg1175Ser) | |
6 | g.7579715_7579717dup | CA2677226185 | DSP | c.3525_3527dup (p.Val1176_Leu1177insVal) | gnomAD v4 |
6 | g.7579716G>A | CA362684266 | DSP | c.3526G>A (p.Val1176Ile) | ClinVar gnomAD v4 |
6 | g.7579716G>C | CA362684267 | DSP | c.3526G>C (p.Val1176Leu) | |
6 | g.7579716G= | CA1608614594 | DSP | c.3526G= (p.Val1176=) | |
6 | g.7579716G>T | CA362684265 | DSP | c.3526G>T (p.Val1176Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579717T>A | CA362684268 | DSP | c.3527T>A (p.Val1176Asp) | |
6 | g.7579717T>C | CA362684269 | DSP | c.3527T>C (p.Val1176Ala) | ClinVar dbSNP |
6 | g.7579717T>G | CA362684270 | DSP | c.3527T>G (p.Val1176Gly) | |
6 | g.7579717T= | CA1608614596 | DSP | c.3527T= (p.Val1176=) | |
6 | g.7579718T>A | CA448714223 | DSP | c.3528T>A (p.Val1176=) | |
6 | g.7579718T>C | CA448714221 | DSP | c.3528T>C (p.Val1176=) | |
6 | g.7579718T>G | CA448714222 | DSP | c.3528T>G (p.Val1176=) | |
6 | g.7579719del | CA2740094257 | DSP | c.3529del (p.Leu1177TyrfsTer19) c.3529del (p.Leu1177TyrfsTer?) | ClinVar |
6 | g.7579719C>A | CA362684271 | DSP | c.3529C>A (p.Leu1177Ile) | ClinVar |
6 | g.7579719C>G | CA362684272 | DSP | c.3529C>G (p.Leu1177Val) | |
6 | g.7579719C>T | CA448714225 | DSP | c.3529C>T (p.Leu1177=) | |
6 | g.7579720T>A | CA038306 | DSP | c.3530T>A (p.Leu1177Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579720T>C | CA362684273 | DSP | c.3530T>C (p.Leu1177Pro) | |
6 | g.7579720T>G | CA362684274 | DSP | c.3530T>G (p.Leu1177Arg) | |
6 | g.7579720T= | CA1608614599 | DSP | c.3530T= (p.Leu1177=) | |
6 | g.7579721A>C | CA448714226 | DSP | c.3531A>C (p.Leu1177=) | |
6 | g.7579721A>G | CA448714228 | DSP | c.3531A>G (p.Leu1177=) | ClinVar |
6 | g.7579721A>T | CA448714227 | DSP | c.3531A>T (p.Leu1177=) | gnomAD v4 |
6 | g.7579722C>A | CA362684275 | DSP | c.3532C>A (p.Leu1178Met) | |
6 | g.7579722C= | CA1608614608 | DSP | c.3532C= (p.Leu1178=) | |
6 | g.7579722C>G | CA362684276 | DSP | c.3532C>G (p.Leu1178Val) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579722C>T | CA448714232 | DSP | c.3532C>T (p.Leu1178=) | ClinVar dbSNP gnomAD v4 |
6 | g.7579723T>A | CA362684277 | DSP | c.3533T>A (p.Leu1178Gln) | |
6 | g.7579723T>C | CA362684278 | DSP | c.3533T>C (p.Leu1178Pro) | |
6 | g.7579723T>G | CA362684279 | DSP | c.3533T>G (p.Leu1178Arg) | |
6 | g.7579724G>A | CA448714272 | DSP | c.3534G>A (p.Leu1178=) | |
6 | g.7579724G>C | CA448714273 | DSP | c.3534G>C (p.Leu1178=) | |
6 | g.7579724G>T | CA448714274 | DSP | c.3534G>T (p.Leu1178=) | |
6 | g.7579725C>A | CA362684280 | DSP | c.3535C>A (p.Gln1179Lys) | |
6 | g.7579725C= | CA1608614628 | DSP | c.3535C= (p.Gln1179=) | |
6 | g.7579725C>G | CA362684282 | DSP | c.3535C>G (p.Gln1179Glu) | |
6 | g.7579725C>T | CA362684281 | DSP | c.3535C>T (p.Gln1179Ter) | ClinVar dbSNP |
6 | g.7579726A= | CA1608614638 | DSP | c.3536A= (p.Gln1179=) | |
6 | g.7579726A>C | CA362684283 | DSP | c.3536A>C (p.Gln1179Pro) | |
6 | g.7579726A>G | CA362684284 | DSP | c.3536A>G (p.Gln1179Arg) | ClinVar dbSNP |
6 | g.7579726A>T | CA362684285 | DSP | c.3536A>T (p.Gln1179Leu) | |
6 | g.7579727G>A | CA448714275 | DSP | c.3537G>A (p.Gln1179=) | dbSNP gnomAD v4 |
6 | g.7579727G>C | CA362684286 | DSP | c.3537G>C (p.Gln1179His) | |
6 | g.7579727G= | CA1608614640 | DSP | c.3537G= (p.Gln1179=) | |
6 | g.7579727G>T | CA362684287 | DSP | c.3537G>T (p.Gln1179His) | |
6 | g.7579728G>A | CA362684288 | DSP | c.3538G>A (p.Glu1180Lys) | ClinVar |
6 | g.7579728G>C | CA362684289 | DSP | c.3538G>C (p.Glu1180Gln) | |
6 | g.7579728G>T | CA362684290 | DSP | c.3538G>T (p.Glu1180Ter) | |
6 | g.7579729A>C | CA362684291 | DSP | c.3539A>C (p.Glu1180Ala) | |
6 | g.7579729A>G | CA362684292 | DSP | c.3539A>G (p.Glu1180Gly) | |
6 | g.7579729A>T | CA362684293 | DSP | c.3539A>T (p.Glu1180Val) | |
6 | g.7579730A= | CA1608614645 | DSP | c.3540A= (p.Glu1180=) | |
6 | g.7579730A>C | CA362684295 | DSP | c.3540A>C (p.Glu1180Asp) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579730A>G | CA038348 | DSP | c.3540A>G (p.Glu1180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579730A>T | CA362684294 | DSP | c.3540A>T (p.Glu1180Asp) | |
6 | g.7579731G>A | CA362684298 | DSP | c.3541G>A (p.Glu1181Lys) | gnomAD v4 |
6 | g.7579731G>C | CA362684296 | DSP | c.3541G>C (p.Glu1181Gln) | |
6 | g.7579731G>T | CA362684297 | DSP | c.3541G>T (p.Glu1181Ter) | ClinVar |
6 | g.7579732A>C | CA362684299 | DSP | c.3542A>C (p.Glu1181Ala) | |
6 | g.7579732A>G | CA362684300 | DSP | c.3542A>G (p.Glu1181Gly) | |
6 | g.7579732A>T | CA362684301 | DSP | c.3542A>T (p.Glu1181Val) | |
6 | g.7579733A= | CA1608614647 | DSP | c.3543A= (p.Glu1181=) | |
6 | g.7579733A>C | CA362684302 | DSP | c.3543A>C (p.Glu1181Asp) | |
6 | g.7579733A>G | CA448714276 | DSP | c.3543A>G (p.Glu1181=) | dbSNP |
6 | g.7579733A>T | CA362684303 | DSP | c.3543A>T (p.Glu1181Asp) | |
6 | g.7579734G>A | CA362684304 | DSP | c.3544G>A (p.Gly1182Ser) | dbSNP |
6 | g.7579734G>C | CA362684305 | DSP | c.3544G>C (p.Gly1182Arg) | ClinVar dbSNP |
6 | g.7579734G= | CA1608614652 | DSP | c.3544G= (p.Gly1182=) | |
6 | g.7579734G>T | CA362684306 | DSP | c.3544G>T (p.Gly1182Cys) | |
6 | g.7579735G>A | CA362684307 | DSP | c.3545G>A (p.Gly1182Asp) | gnomAD v4 |
6 | g.7579735G>C | CA362684308 | DSP | c.3545G>C (p.Gly1182Ala) | |
6 | g.7579735G>T | CA362684309 | DSP | c.3545G>T (p.Gly1182Val) | |
6 | g.7579736C>A | CA448714277 | DSP | c.3546C>A (p.Gly1182=) | ClinVar dbSNP gnomAD v4 |
6 | g.7579736C= | CA1608614657 | DSP | c.3546C= (p.Gly1182=) | |
6 | g.7579736C>G | CA448714278 | DSP | c.3546C>G (p.Gly1182=) | |
6 | g.7579736C>T | CA448714279 | DSP | c.3546C>T (p.Gly1182=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579737A= | CA1608614666 | DSP | c.3547A= (p.Thr1183=) | |
6 | g.7579737A>C | CA362684310 | DSP | c.3547A>C (p.Thr1183Pro) | |
6 | g.7579737A>G | CA362684312 | DSP | c.3547A>G (p.Thr1183Ala) | dbSNP gnomAD v4 |
6 | g.7579737A>T | CA362684311 | DSP | c.3547A>T (p.Thr1183Ser) | |
6 | g.7579738C>A | CA362684313 | DSP | c.3548C>A (p.Thr1183Asn) | |
6 | g.7579738C= | CA1608614673 | DSP | c.3548C= (p.Thr1183=) | |
6 | g.7579738C>G | CA362684314 | DSP | c.3548C>G (p.Thr1183Ser) | |
6 | g.7579738C>T | CA362684315 | DSP | c.3548C>T (p.Thr1183Ile) | ClinVar dbSNP gnomAD v2 |
6 | g.7579739C>A | CA448714280 | DSP | c.3549C>A (p.Thr1183=) | |
6 | g.7579739C>G | CA448714281 | DSP | c.3549C>G (p.Thr1183=) | |
6 | g.7579739C>T | CA448714282 | DSP | c.3549C>T (p.Thr1183=) | gnomAD v4 |
6 | g.7579740C>A | CA448714283 | DSP | c.3550C>A (p.Arg1184=) | |
6 | g.7579740C= | CA1608614677 | DSP | c.3550C= (p.Arg1184=) | |
6 | g.7579740C>G | CA362684316 | DSP | c.3550C>G (p.Arg1184Gly) | |
6 | g.7579740C>T | CA038373 | DSP | c.3550C>T (p.Arg1184Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579741G>A | CA038386 | DSP | c.3551G>A (p.Arg1184Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579741G>C | CA362684317 | DSP | c.3551G>C (p.Arg1184Pro) | |
6 | g.7579741G= | CA1608614688 | DSP | c.3551G= (p.Arg1184=) | |
6 | g.7579741G>T | CA362684318 | DSP | c.3551G>T (p.Arg1184Leu) | |
6 | g.7579742G>A | CA448714284 | DSP | c.3552G>A (p.Arg1184=) | |
6 | g.7579742G>C | CA448714285 | DSP | c.3552G>C (p.Arg1184=) | |
6 | g.7579742G>T | CA448714286 | DSP | c.3552G>T (p.Arg1184=) | |
6 | g.7579743A>C | CA362684319 | DSP | c.3553A>C (p.Lys1185Gln) | |
6 | g.7579743A>G | CA362684320 | DSP | c.3553A>G (p.Lys1185Glu) | |
6 | g.7579743A>T | CA362684321 | DSP | c.3553A>T (p.Lys1185Ter) | |
6 | g.7579744A= | CA1608614696 | DSP | c.3554A= (p.Lys1185=) | |
6 | g.7579744A>C | CA362684323 | DSP | c.3554A>C (p.Lys1185Thr) | |
6 | g.7579744A>G | CA362684324 | DSP | c.3554A>G (p.Lys1185Arg) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579744A>T | CA362684322 | DSP | c.3554A>T (p.Lys1185Met) | |
6 | g.7579745G>A | CA448714287 | DSP | c.3555G>A (p.Lys1185=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579745G>C | CA362684325 | DSP | c.3555G>C (p.Lys1185Asn) | ClinVar dbSNP gnomAD v4 |
6 | g.7579745G= | CA1608614702 | DSP | c.3555G= (p.Lys1185=) | |
6 | g.7579745G>T | CA362684326 | DSP | c.3555G>T (p.Lys1185Asn) | |
6 | g.7579746A>C | CA448714288 | DSP | c.3556A>C (p.Arg1186=) | |
6 | g.7579746A>G | CA362684327 | DSP | c.3556A>G (p.Arg1186Gly) | |
6 | g.7579746A>T | CA362684328 | DSP | c.3556A>T (p.Arg1186Ter) | |
6 | g.7579747G>A | CA362684329 | DSP | c.3557G>A (p.Arg1186Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579747G>C | CA362684330 | DSP | c.3557G>C (p.Arg1186Thr) | dbSNP gnomAD v4 |
6 | g.7579747G= | CA1608614709 | DSP | c.3557G= (p.Arg1186=) | |
6 | g.7579747G>T | CA362684331 | DSP | c.3557G>T (p.Arg1186Ile) | |
6 | g.7579748A= | CA1608614716 | DSP | c.3558A= (p.Arg1186=) | |
6 | g.7579748A>C | CA362684332 | DSP | c.3558A>C (p.Arg1186Ser) | |
6 | g.7579748A>G | CA038395 | DSP | c.3558A>G (p.Arg1186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579748A>T | CA362684333 | DSP | c.3558A>T (p.Arg1186Ser) | gnomAD v4 |
6 | g.7579749G>A | CA362684334 | DSP | c.3559G>A (p.Glu1187Lys) | ClinVar dbSNP |
6 | g.7579749G>C | CA362684335 | DSP | c.3559G>C (p.Glu1187Gln) | |
6 | g.7579749G= | CA1608614726 | DSP | c.3559G= (p.Glu1187=) | |
6 | g.7579749G>T | CA362684336 | DSP | c.3559G>T (p.Glu1187Ter) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579750A>C | CA362684339 | DSP | c.3560A>C (p.Glu1187Ala) | |
6 | g.7579750A>G | CA362684338 | DSP | c.3560A>G (p.Glu1187Gly) | |
6 | g.7579750A>T | CA362684337 | DSP | c.3560A>T (p.Glu1187Val) | gnomAD v4 |
6 | g.7579751A= | CA1608614730 | DSP | c.3561A= (p.Glu1187=) | |
6 | g.7579751A>C | CA362684340 | DSP | c.3561A>C (p.Glu1187Asp) | |
6 | g.7579751A>G | CA448714289 | DSP | c.3561A>G (p.Glu1187=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579751A>T | CA362684341 | DSP | c.3561A>T (p.Glu1187Asp) | |
6 | g.7579752T>A | CA362684342 | DSP | c.3562T>A (p.Tyr1188Asn) | |
6 | g.7579752T>C | CA005843 | DSP | c.3562T>C (p.Tyr1188His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579752T>G | CA362684343 | DSP | c.3562T>G (p.Tyr1188Asp) | |
6 | g.7579752T= | CA1608614735 | DSP | c.3562T= (p.Tyr1188=) | |
6 | g.7579753A>C | CA362684344 | DSP | c.3563A>C (p.Tyr1188Ser) | |
6 | g.7579753A>G | CA362684345 | DSP | c.3563A>G (p.Tyr1188Cys) | ClinVar |
6 | g.7579753A>T | CA362684346 | DSP | c.3563A>T (p.Tyr1188Phe) | |
6 | g.7579754T>A | CA362684347 | DSP | c.3564T>A (p.Tyr1188Ter) | ClinVar dbSNP |
6 | g.7579754T>C | CA448714290 | DSP | c.3564T>C (p.Tyr1188=) | ClinVar dbSNP |
6 | g.7579754T>G | CA362684348 | DSP | c.3564T>G (p.Tyr1188Ter) | |
6 | g.7579755G>A | CA133968511 | DSP | c.3565G>A (p.Glu1189Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.7579755G>C | CA362684349 | DSP | c.3565G>C (p.Glu1189Gln) | |
6 | g.7579755G= | CA1608614746 | DSP | c.3565G= (p.Glu1189=) | |
6 | g.7579755G>T | CA362684350 | DSP | c.3565G>T (p.Glu1189Ter) | |
6 | g.7579756A>C | CA362684353 | DSP | c.3566A>C (p.Glu1189Ala) | |
6 | g.7579756A>G | CA362684352 | DSP | c.3566A>G (p.Glu1189Gly) | |
6 | g.7579756A>T | CA362684351 | DSP | c.3566A>T (p.Glu1189Val) | |
6 | g.7579757A= | CA1608614753 | DSP | c.3567A= (p.Glu1189=) | |
6 | g.7579757A>C | CA362684354 | DSP | c.3567A>C (p.Glu1189Asp) | |
6 | g.7579757A>G | CA038417 | DSP | c.3567A>G (p.Glu1189=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579757A>T | CA362684355 | DSP | c.3567A>T (p.Glu1189Asp) | |
6 | g.7579758A>C | CA362684356 | DSP | c.3568A>C (p.Asn1190His) | |
6 | g.7579758A>G | CA362684357 | DSP | c.3568A>G (p.Asn1190Asp) | |
6 | g.7579758A>T | CA362684358 | DSP | c.3568A>T (p.Asn1190Tyr) | |
6 | g.7579759A>C | CA362684361 | DSP | c.3569A>C (p.Asn1190Thr) | |
6 | g.7579759A>G | CA362684359 | DSP | c.3569A>G (p.Asn1190Ser) | |
6 | g.7579759A>T | CA362684360 | DSP | c.3569A>T (p.Asn1190Ile) | |
6 | g.7579760T>A | CA362684362 | DSP | c.3570T>A (p.Asn1190Lys) | |
6 | g.7579760T>C | CA448714291 | DSP | c.3570T>C (p.Asn1190=) | |
6 | g.7579760T>G | CA362684363 | DSP | c.3570T>G (p.Asn1190Lys) | |
6 | g.7579761G>A | CA362684364 | DSP | c.3571G>A (p.Glu1191Lys) | |
6 | g.7579761G>C | CA362684365 | DSP | c.3571G>C (p.Glu1191Gln) | |
6 | g.7579761G= | CA1608614759 | DSP | c.3571G= (p.Glu1191=) | |
6 | g.7579761G>T | CA362684366 | DSP | c.3571G>T (p.Glu1191Ter) | ClinVar dbSNP |
6 | g.7579762A>C | CA362684369 | DSP | c.3572A>C (p.Glu1191Ala) | |
6 | g.7579762A>G | CA362684367 | DSP | c.3572A>G (p.Glu1191Gly) | |
6 | g.7579762A>T | CA362684368 | DSP | c.3572A>T (p.Glu1191Val) | |
6 | g.7579763G>A | CA448714292 | DSP | c.3573G>A (p.Glu1191=) | ClinVar dbSNP gnomAD v4 |
6 | g.7579763G>C | CA038437 | DSP | c.3573G>C (p.Glu1191Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579763G= | CA1608614767 | DSP | c.3573G= (p.Glu1191=) | |
6 | g.7579763G>T | CA362684370 | DSP | c.3573G>T (p.Glu1191Asp) | ClinVar dbSNP |
6 | g.7579764C>A | CA362684371 | DSP | c.3574C>A (p.Leu1192Met) | |
6 | g.7579764C= | CA1608614777 | DSP | c.3574C= (p.Leu1192=) | |
6 | g.7579764C>G | CA362684372 | DSP | c.3574C>G (p.Leu1192Val) | ClinVar dbSNP |
6 | g.7579764C>T | CA448714293 | DSP | c.3574C>T (p.Leu1192=) | gnomAD v4 |
6 | g.7579765T>A | CA362684373 | DSP | c.3575T>A (p.Leu1192Gln) | |
6 | g.7579765T>C | CA362684374 | DSP | c.3575T>C (p.Leu1192Pro) | |
6 | g.7579765T>G | CA362684375 | DSP | c.3575T>G (p.Leu1192Arg) | |
6 | g.7579766G>A | CA448714294 | DSP | c.3576G>A (p.Leu1192=) | |
6 | g.7579766G>C | CA448714295 | DSP | c.3576G>C (p.Leu1192=) | |
6 | g.7579766G>T | CA448714296 | DSP | c.3576G>T (p.Leu1192=) | |
6 | g.7579767G>A | CA362684376 | DSP | c.3577G>A (p.Ala1193Thr) | |
6 | g.7579767G>C | CA362684377 | DSP | c.3577G>C (p.Ala1193Pro) | |
6 | g.7579767G>T | CA362684378 | DSP | c.3577G>T (p.Ala1193Ser) | |
6 | g.7579768C>A | CA362684379 | DSP | c.3578C>A (p.Ala1193Glu) | ClinVar gnomAD v4 |
6 | g.7579768C= | CA1608614785 | DSP | c.3578C= (p.Ala1193=) | |
6 | g.7579768C>G | CA362684380 | DSP | c.3578C>G (p.Ala1193Gly) | |
6 | g.7579768C>T | CA362684381 | DSP | c.3578C>T (p.Ala1193Val) | dbSNP |
6 | g.7579769A>C | CA448714299 | DSP | c.3579A>C (p.Ala1193=) | gnomAD v4 |
6 | g.7579769A>G | CA448714298 | DSP | c.3579A>G (p.Ala1193=) | |
6 | g.7579769A>T | CA448714297 | DSP | c.3579A>T (p.Ala1193=) | |
6 | g.7579770A>C | CA362684384 | DSP | c.3580A>C (p.Lys1194Gln) | |
6 | g.7579770A>G | CA362684382 | DSP | c.3580A>G (p.Lys1194Glu) | gnomAD v4 |
6 | g.7579770A>T | CA362684383 | DSP | c.3580A>T (p.Lys1194Ter) | |
6 | g.7579771A>C | CA362684385 | DSP | c.3581A>C (p.Lys1194Thr) | gnomAD v4 |
6 | g.7579771A>G | CA362684386 | DSP | c.3581A>G (p.Lys1194Arg) | |
6 | g.7579771A>T | CA362684387 | DSP | c.3581A>T (p.Lys1194Met) | |
6 | g.7579772G>A | CA448714300 | DSP | c.3582G>A (p.Lys1194=) | ClinVar |
6 | g.7579772G>C | CA362684388 | DSP | c.3582G>C (p.Lys1194Asn) | |
6 | g.7579772G>T | CA362684389 | DSP | c.3582G>T (p.Lys1194Asn) | |
6 | g.7579773G>A | CA362684390 | DSP | c.3583G>A (p.Val1195Ile) c.3582+1G>A (n.3582+1G>A) | |
6 | g.7579773G>C | CA362684391 | DSP | c.3583G>C (p.Val1195Leu) c.3582+1G>C (n.3582+1G>C) | |
6 | g.7579773G>T | CA362684392 | DSP | c.3583G>T (p.Val1195Leu) c.3582+1G>T (n.3582+1G>T) | |
6 | g.7579774T>A | CA362684393 | DSP | c.3584T>A (p.Val1195Glu) c.3582+2T>A (n.3582+2T>A) | |
6 | g.7579774T>C | CA362684394 | DSP | c.3584T>C (p.Val1195Ala) c.3582+2T>C (n.3582+2T>C) | COSMIC |
6 | g.7579774T>G | CA362684395 | DSP | c.3584T>G (p.Val1195Gly) c.3582+2T>G (n.3582+2T>G) | |
6 | g.7579775A>C | CA448714301 | DSP | c.3585A>C (p.Val1195=) c.3582+3A>C (n.3582+3A>C) | |
6 | g.7579775A>G | CA448714302 | DSP | c.3585A>G (p.Val1195=) c.3582+3A>G (n.3582+3A>G) | |
6 | g.7579775A>T | CA448714303 | DSP | c.3585A>T (p.Val1195=) c.3582+3A>T (n.3582+3A>T) | |
6 | g.7579776A>C | CA448714304 | DSP | c.3586A>C (p.Arg1196=) c.3582+4A>C (n.3582+4A>C) | |
6 | g.7579776A>G | CA362684396 | DSP | c.3586A>G (p.Arg1196Gly) c.3582+4A>G (n.3582+4A>G) | |
6 | g.7579776A>T | CA362684397 | DSP | c.3586A>T (p.Arg1196Ter) c.3582+4A>T (n.3582+4A>T) | |
6 | g.7579777G>A | CA362684400 | DSP | c.3587G>A (p.Arg1196Lys) c.3582+5G>A (n.3582+5G>A) | |
6 | g.7579777G>C | CA362684399 | DSP | c.3587G>C (p.Arg1196Thr) c.3582+5G>C (n.3582+5G>C) | |
6 | g.7579777G>T | CA362684398 | DSP | c.3587G>T (p.Arg1196Ile) c.3582+5G>T (n.3582+5G>T) | |
6 | g.7579778A>C | CA362684401 | DSP | c.3588A>C (p.Arg1196Ser) c.3582+6A>C (n.3582+6A>C) | |
6 | g.7579778A>G | CA448714305 | DSP | c.3588A>G (p.Arg1196=) c.3582+6A>G (n.3582+6A>G) | gnomAD v4 |
6 | g.7579778A>T | CA362684402 | DSP | c.3588A>T (p.Arg1196Ser) c.3582+6A>T (n.3582+6A>T) | |
6 | g.7579779A>C | CA362684403 | DSP | c.3589A>C (p.Asn1197His) c.3582+7A>C (n.3582+7A>C) | |
6 | g.7579779A>G | CA362684404 | DSP | c.3589A>G (p.Asn1197Asp) c.3582+7A>G (n.3582+7A>G) | |
6 | g.7579779A>T | CA362684405 | DSP | c.3589A>T (p.Asn1197Tyr) c.3582+7A>T (n.3582+7A>T) | |
6 | g.7579780A>C | CA362684406 | DSP | c.3590A>C (p.Asn1197Thr) c.3582+8A>C (n.3582+8A>C) | COSMIC |
6 | g.7579780A>G | CA362684407 | DSP | c.3590A>G (p.Asn1197Ser) c.3582+8A>G (n.3582+8A>G) | COSMIC |
6 | g.7579780A>T | CA362684408 | DSP | c.3590A>T (p.Asn1197Ile) c.3582+8A>T (n.3582+8A>T) | |
6 | g.7579781C>A | CA362684409 | DSP | c.3591C>A (p.Asn1197Lys) c.3582+9C>A (n.3582+9C>A) | dbSNP gnomAD v2 |
6 | g.7579781C= | CA1608614790 | DSP | c.3591C= (p.Asn1197=) c.3582+9C= (n.3582+9C=) | |
6 | g.7579781C>G | CA362684410 | DSP | c.3591C>G (p.Asn1197Lys) c.3582+9C>G (n.3582+9C>G) | |
6 | g.7579781C>T | CA448714306 | DSP | c.3591C>T (p.Asn1197=) c.3582+9C>T (n.3582+9C>T) | ClinVar dbSNP gnomAD v2 |
6 | g.7579782C>A | CA362684411 | DSP | c.3592C>A (p.His1198Asn) c.3582+10C>A (n.3582+10C>A) | |
6 | g.7579782C= | CA1608614797 | DSP | c.3592C= (p.His1198=) c.3582+10C= (n.3582+10C=) | |
6 | g.7579782C>G | CA362684412 | DSP | c.3592C>G (p.His1198Asp) c.3582+10C>G (n.3582+10C>G) | |
6 | g.7579782C>T | CA038457 | DSP | c.3592C>T (p.His1198Tyr) c.3582+10C>T (n.3582+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579783A= | CA1608614798 | DSP | c.3593A= (p.His1198=) c.3582+11A= (n.3582+11A=) | |
6 | g.7579783A>C | CA362684414 | DSP | c.3593A>C (p.His1198Pro) c.3582+11A>C (n.3582+11A>C) | |
6 | g.7579783A>G | CA362684415 | DSP | c.3593A>G (p.His1198Arg) c.3582+11A>G (n.3582+11A>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579783A>T | CA362684413 | DSP | c.3593A>T (p.His1198Leu) c.3582+11A>T (n.3582+11A>T) | |
6 | g.7579784C>A | CA362684416 | DSP | c.3594C>A (p.His1198Gln) c.3582+12C>A (n.3582+12C>A) | |
6 | g.7579784C>G | CA362684417 | DSP | c.3594C>G (p.His1198Gln) c.3582+12C>G (n.3582+12C>G) | |
6 | g.7579784C>T | CA448714308 | DSP | c.3594C>T (p.His1198=) c.3582+12C>T (n.3582+12C>T) | |
6 | g.7579785T>A | CA362684418 | DSP | c.3595T>A (p.Tyr1199Asn) c.3582+13T>A (n.3582+13T>A) | |
6 | g.7579785T>C | CA362684419 | DSP | c.3595T>C (p.Tyr1199His) c.3582+13T>C (n.3582+13T>C) | |
6 | g.7579785T>G | CA362684420 | DSP | c.3595T>G (p.Tyr1199Asp) c.3582+13T>G (n.3582+13T>G) | |
6 | g.7579786A= | CA1608614801 | DSP | c.3596A= (p.Tyr1199=) c.3582+14A= (n.3582+14A=) | |
6 | g.7579786A>C | CA362684421 | DSP | c.3596A>C (p.Tyr1199Ser) c.3582+14A>C (n.3582+14A>C) | |
6 | g.7579786A>G | CA362684422 | DSP | c.3596A>G (p.Tyr1199Cys) c.3582+14A>G (n.3582+14A>G) | ClinVar dbSNP gnomAD v4 |
6 | g.7579786A>T | CA362684423 | DSP | c.3596A>T (p.Tyr1199Phe) c.3582+14A>T (n.3582+14A>T) | |
6 | g.7579787T>A | CA362684424 | DSP | c.3597T>A (p.Tyr1199Ter) c.3582+15T>A (n.3582+15T>A) | |
6 | g.7579787T>C | CA448714312 | DSP | c.3597T>C (p.Tyr1199=) c.3582+15T>C (n.3582+15T>C) | |
6 | g.7579787T>G | CA362684425 | DSP | c.3597T>G (p.Tyr1199Ter) c.3582+15T>G (n.3582+15T>G) | |
6 | g.7579788A>C | CA362684426 | DSP | c.3598A>C (p.Asn1200His) c.3582+16A>C (n.3582+16A>C) | |
6 | g.7579788A>G | CA362684427 | DSP | c.3598A>G (p.Asn1200Asp) c.3582+16A>G (n.3582+16A>G) | |
6 | g.7579788A>T | CA362684428 | DSP | c.3598A>T (p.Asn1200Tyr) c.3582+16A>T (n.3582+16A>T) | |
6 | g.7579789A= | CA1608614805 | DSP | c.3599A= (p.Asn1200=) c.3582+17A= (n.3582+17A=) | |
6 | g.7579789A>C | CA362684429 | DSP | c.3599A>C (p.Asn1200Thr) c.3582+17A>C (n.3582+17A>C) | |
6 | g.7579789A>G | CA362684430 | DSP | c.3599A>G (p.Asn1200Ser) c.3582+17A>G (n.3582+17A>G) | dbSNP |
6 | g.7579789A>T | CA362684431 | DSP | c.3599A>T (p.Asn1200Ile) c.3582+17A>T (n.3582+17A>T) | |
6 | g.7579790T>A | CA362684432 | DSP | c.3600T>A (p.Asn1200Lys) c.3582+18T>A (n.3582+18T>A) | |
6 | g.7579790T>C | CA448714316 | DSP | c.3600T>C (p.Asn1200=) c.3582+18T>C (n.3582+18T>C) | |
6 | g.7579790T>G | CA004249 | DSP | c.3600T>G (p.Asn1200Lys) c.3582+18T>G (n.3582+18T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579790T= | CA1608614808 | DSP | c.3600T= (p.Asn1200=) c.3582+18T= (n.3582+18T=) | |
6 | g.7579791G>A | CA038480 | DSP | c.3601G>A (p.Glu1201Lys) c.3582+19G>A (n.3582+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579791G>C | CA362684433 | DSP | c.3601G>C (p.Glu1201Gln) c.3582+19G>C (n.3582+19G>C) | |
6 | g.7579791G= | CA1608614816 | DSP | c.3601G= (p.Glu1201=) c.3582+19G= (n.3582+19G=) | |
6 | g.7579791G>T | CA362684434 | DSP | c.3601G>T (p.Glu1201Ter) c.3582+19G>T (n.3582+19G>T) | |
6 | g.7579794_7579796del | CA2578524493 | DSP | c.3604_3606del (p.Glu1202del) c.3582+22_3582+24del (n.3582+22_3582+24del) | gnomAD v4 |
6 | g.7579792A= | CA1608614821 | DSP | c.3602A= (p.Glu1201=) c.3582+20A= (n.3582+20A=) | |
6 | g.7579792A>C | CA362684435 | DSP | c.3602A>C (p.Glu1201Ala) c.3582+20A>C (n.3582+20A>C) | |
6 | g.7579792A>G | CA362684436 | DSP | c.3602A>G (p.Glu1201Gly) c.3582+20A>G (n.3582+20A>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579792A>T | CA362684437 | DSP | c.3602A>T (p.Glu1201Val) c.3582+20A>T (n.3582+20A>T) | |
6 | g.7579793G>A | CA448714317 | DSP | c.3603G>A (p.Glu1201=) c.3582+21G>A (n.3582+21G>A) | |
6 | g.7579793G>C | CA362684438 | DSP | c.3603G>C (p.Glu1201Asp) c.3582+21G>C (n.3582+21G>C) | |
6 | g.7579793G>T | CA362684439 | DSP | c.3603G>T (p.Glu1201Asp) c.3582+21G>T (n.3582+21G>T) | |
6 | g.7579794G>A | CA362684440 | DSP | c.3604G>A (p.Glu1202Lys) c.3582+22G>A (n.3582+22G>A) | |
6 | g.7579794G>C | CA362684441 | DSP | c.3604G>C (p.Glu1202Gln) c.3582+22G>C (n.3582+22G>C) | |
6 | g.7579794G>T | CA362684442 | DSP | c.3604G>T (p.Glu1202Ter) c.3582+22G>T (n.3582+22G>T) | |
6 | g.7579795A= | CA1608614826 | DSP | c.3605A= (p.Glu1202=) c.3582+23A= (n.3582+23A=) | |
6 | g.7579795A>C | CA362684444 | DSP | c.3605A>C (p.Glu1202Ala) c.3582+23A>C (n.3582+23A>C) | |
6 | g.7579795A>G | CA362684443 | DSP | c.3605A>G (p.Glu1202Gly) c.3582+23A>G (n.3582+23A>G) | gnomAD v4 |
6 | g.7579795A>T | CA133968541 | DSP | c.3605A>T (p.Glu1202Val) c.3582+23A>T (n.3582+23A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579796G>A | CA133968549 | DSP | c.3606G>A (p.Glu1202=) c.3582+24G>A (n.3582+24G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7579796G>C | CA362684445 | DSP | c.3606G>C (p.Glu1202Asp) c.3582+24G>C (n.3582+24G>C) | |
6 | g.7579796G= | CA1608614832 | DSP | c.3606G= (p.Glu1202=) c.3582+24G= (n.3582+24G=) | |
6 | g.7579796G>T | CA362684446 | DSP | c.3606G>T (p.Glu1202Asp) c.3582+24G>T (n.3582+24G>T) | |
6 | g.7579797A>C | CA362684447 | DSP | c.3607A>C (p.Met1203Leu) c.3582+25A>C (n.3582+25A>C) | |
6 | g.7579797A>G | CA362684448 | DSP | c.3607A>G (p.Met1203Val) c.3582+25A>G (n.3582+25A>G) | |
6 | g.7579797A>T | CA362684449 | DSP | c.3607A>T (p.Met1203Leu) c.3582+25A>T (n.3582+25A>T) | ClinVar |
6 | g.7579798T>A | CA362684450 | DSP | c.3608T>A (p.Met1203Lys) c.3582+26T>A (n.3582+26T>A) | |
6 | g.7579798T>C | CA362684451 | DSP | c.3608T>C (p.Met1203Thr) c.3582+26T>C (n.3582+26T>C) | ClinVar |
6 | g.7579798T>G | CA362684452 | DSP | c.3608T>G (p.Met1203Arg) c.3582+26T>G (n.3582+26T>G) | |
6 | g.7579799_7579807del | CA2677226242 | DSP | c.3609_3617del (p.Met1203_Leu1206delinsIle) c.3582+27_3582+35del (n.3582+27_3582+35del) | gnomAD v4 |
6 | g.7579798_7579799insAC | CA2573140799 | DSP | c.3608_3609insAC (p.Met1203IlefsTer5) c.3582+26_3582+27insAC (n.3582+26_3582+27insAC) | ClinVar dbSNP |
6 | g.7579799G>A | CA038502 | DSP | c.3609G>A (p.Met1203Ile) c.3582+27G>A (n.3582+27G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579799G>C | CA362684453 | DSP | c.3609G>C (p.Met1203Ile) c.3582+27G>C (n.3582+27G>C) | |
6 | g.7579799G= | CA1608614839 | DSP | c.3609G= (p.Met1203=) c.3582+27G= (n.3582+27G=) | |
6 | g.7579799G>T | CA362684454 | DSP | c.3609G>T (p.Met1203Ile) c.3582+27G>T (n.3582+27G>T) | |
6 | g.7579799_7579800delinsAG | CA1608614841 | DSP | c.3609_3610delinsAG (p.Met1203_Ser1204delinsIleGly) c.3582+27_3582+28delinsAG (n.3582+27_3582+28delinsAG) | ClinVar dbSNP |
6 | g.7579799_7579800delinsGA | CA1608614845 | DSP | c.3609_3610delinsGA (p.Met1203=) c.3582+27_3582+28delinsGA (n.3582+27_3582+28delinsGA) |