| 4 | g.87612468T>A | CA440294245 | DSPP | c.282T>A (p.Ser94=)
| |
| 4 | g.87612468T>C | CA440294246 | DSPP | c.282T>C (p.Ser94=)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612468T>G | CA440294247 | DSPP | c.282T>G (p.Ser94=)
| |
| 4 | g.87612468T= | CA1474384457 | DSPP | c.282T= (p.Ser94=)
| |
| 4 | g.87612469A>C | CA357603217 | DSPP | c.283A>C (p.Thr95Pro)
| |
| 4 | g.87612469A>G | CA357603218 | DSPP | c.283A>G (p.Thr95Ala)
| |
| 4 | g.87612469A>T | CA357603219 | DSPP | c.283A>T (p.Thr95Ser)
| |
| 4 | g.87612470C>A | CA357603220 | DSPP | c.284C>A (p.Thr95Lys)
| gnomAD v4 |
| 4 | g.87612470C= | CA1474384458 | DSPP | c.284C= (p.Thr95=)
| |
| 4 | g.87612470C>G | CA357603221 | DSPP | c.284C>G (p.Thr95Arg)
| |
| 4 | g.87612470C>T | CA3000866 | DSPP | c.284C>T (p.Thr95Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612471A= | CA1474384459 | DSPP | c.285A= (p.Thr95=)
| |
| 4 | g.87612471A>C | CA440294255 | DSPP | c.285A>C (p.Thr95=)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612471A>G | CA440294257 | DSPP | c.285A>G (p.Thr95=)
| |
| 4 | g.87612471A>T | CA440294256 | DSPP | c.285A>T (p.Thr95=)
| |
| 4 | g.87612472T>A | CA357603222 | DSPP | c.286T>A (p.Tyr96Asn)
| |
| 4 | g.87612472T>C | CA357603223 | DSPP | c.286T>C (p.Tyr96His)
| |
| 4 | g.87612472T>G | CA357603224 | DSPP | c.286T>G (p.Tyr96Asp)
| |
| 4 | g.87612473A>C | CA357603225 | DSPP | c.287A>C (p.Tyr96Ser)
| |
| 4 | g.87612473A>G | CA357603226 | DSPP | c.287A>G (p.Tyr96Cys)
| |
| 4 | g.87612473A>T | CA357603227 | DSPP | c.287A>T (p.Tyr96Phe)
| |
| 4 | g.87612474T>A | CA3000867 | DSPP | c.288T>A (p.Tyr96Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612474T>C | CA440294263 | DSPP | c.288T>C (p.Tyr96=)
| |
| 4 | g.87612474T>G | CA357603228 | DSPP | c.288T>G (p.Tyr96Ter)
| |
| 4 | g.87612474T= | CA1474384460 | DSPP | c.288T= (p.Tyr96=)
| |
| 4 | g.87612475T>A | CA357603229 | DSPP | c.289T>A (p.Ser97Thr)
| |
| 4 | g.87612475T>C | CA357603230 | DSPP | c.289T>C (p.Ser97Pro)
| |
| 4 | g.87612475T>G | CA357603231 | DSPP | c.289T>G (p.Ser97Ala)
| |
| 4 | g.87612476C>A | CA357603232 | DSPP | c.290C>A (p.Ser97Tyr)
| |
| 4 | g.87612476C= | CA1474384461 | DSPP | c.290C= (p.Ser97=)
| |
| 4 | g.87612476C>G | CA357603233 | DSPP | c.290C>G (p.Ser97Cys)
| |
| 4 | g.87612476C>T | CA3000868 | DSPP | c.290C>T (p.Ser97Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612477C>A | CA440294267 | DSPP | c.291C>A (p.Ser97=)
| |
| 4 | g.87612477C>G | CA440294268 | DSPP | c.291C>G (p.Ser97=)
| |
| 4 | g.87612477C>T | CA440294269 | DSPP | c.291C>T (p.Ser97=)
| |
| 4 | g.87612477_87612478insCCTCT | CA2830535776 | DSPP | c.291_292insCCTCT (p.Thr98ProfsTer4)
| |
| 4 | g.87612478A= | CA1474384462 | DSPP | c.292A= (p.Thr98=)
| |
| 4 | g.87612478A>C | CA357603234 | DSPP | c.292A>C (p.Thr98Pro)
| |
| 4 | g.87612478A>G | CA357603236 | DSPP | c.292A>G (p.Thr98Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612478A>T | CA357603235 | DSPP | c.292A>T (p.Thr98Ser)
| |
| 4 | g.87612479C>A | CA357603237 | DSPP | c.293C>A (p.Thr98Lys)
| |
| 4 | g.87612479C>G | CA357603238 | DSPP | c.293C>G (p.Thr98Arg)
| |
| 4 | g.87612479C>T | CA357603239 | DSPP | c.293C>T (p.Thr98Ile)
| gnomAD v4 |
| 4 | g.87612480A= | CA1474384463 | DSPP | c.294A= (p.Thr98=)
| |
| 4 | g.87612480A>C | CA440294275 | DSPP | c.294A>C (p.Thr98=)
| |
| 4 | g.87612480A>G | CA3000869 | DSPP | c.294A>G (p.Thr98=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612480A>T | CA440294273 | DSPP | c.294A>T (p.Thr98=)
| |
| 4 | g.87612481T>A | CA357603240 | DSPP | c.295T>A (p.Leu99Ile)
| |
| 4 | g.87612481T>C | CA440294276 | DSPP | c.295T>C (p.Leu99=)
| |
| 4 | g.87612481T>G | CA357603241 | DSPP | c.295T>G (p.Leu99Val)
| |
| 4 | g.87612482T>A | CA357603242 | DSPP | c.296T>A (p.Leu99Ter)
| |
| 4 | g.87612482T>C | CA357603243 | DSPP | c.296T>C (p.Leu99Ser)
| |
| 4 | g.87612482T>G | CA357603244 | DSPP | c.296T>G (p.Leu99Ter)
| |
| 4 | g.87612483A>C | CA357603245 | DSPP | c.297A>C (p.Leu99Phe)
| |
| 4 | g.87612483A>G | CA440294278 | DSPP | c.297A>G (p.Leu99=)
| gnomAD v4 |
| 4 | g.87612483A>T | CA357603246 | DSPP | c.297A>T (p.Leu99Phe)
| |
| 4 | g.87612484G>A | CA357603249 | DSPP | c.298G>A (p.Ala100Thr)
| |
| 4 | g.87612484G>C | CA357603248 | DSPP | c.298G>C (p.Ala100Pro)
| |
| 4 | g.87612484G>T | CA357603247 | DSPP | c.298G>T (p.Ala100Ser)
| |
| 4 | g.87612485C>A | CA357603250 | DSPP | c.299C>A (p.Ala100Glu)
| |
| 4 | g.87612485C>G | CA357603252 | DSPP | c.299C>G (p.Ala100Gly)
| |
| 4 | g.87612485C>T | CA357603251 | DSPP | c.299C>T (p.Ala100Val)
| gnomAD v4 |
| 4 | g.87612486A>C | CA440294285 | DSPP | c.300A>C (p.Ala100=)
| |
| 4 | g.87612486A>G | CA440294288 | DSPP | c.300A>G (p.Ala100=)
| |
| 4 | g.87612486A>T | CA440294286 | DSPP | c.300A>T (p.Ala100=)
| |
| 4 | g.87612487A>C | CA357603253 | DSPP | c.301A>C (p.Asn101His)
| |
| 4 | g.87612487A>G | CA357603255 | DSPP | c.301A>G (p.Asn101Asp)
| |
| 4 | g.87612487A>T | CA357603254 | DSPP | c.301A>T (p.Asn101Tyr)
| |
| 4 | g.87612488A= | CA1474384464 | DSPP | c.302A= (p.Asn101=)
| |
| 4 | g.87612488A>C | CA357603256 | DSPP | c.302A>C (p.Asn101Thr)
| |
| 4 | g.87612488A>G | CA357603257 | DSPP | c.302A>G (p.Asn101Ser)
| |
| 4 | g.87612488A>T | CA357603258 | DSPP | c.302A>T (p.Asn101Ile)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612489C>A | CA357603259 | DSPP | c.303C>A (p.Asn101Lys)
| |
| 4 | g.87612489C= | CA1474384465 | DSPP | c.303C= (p.Asn101=)
| |
| 4 | g.87612489C>G | CA357603260 | DSPP | c.303C>G (p.Asn101Lys)
| |
| 4 | g.87612489C>T | CA3000870 | DSPP | c.303C>T (p.Asn101=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612489_87612493del | CA2830535778 | DSPP | c.303_307del (p.Asn101LysfsTer5)
| |
| 4 | g.87612490G>A | CA3000871 | DSPP | c.304G>A (p.Glu102Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612490G>C | CA357603261 | DSPP | c.304G>C (p.Glu102Gln)
| gnomAD v4 |
| 4 | g.87612490G= | CA1474384466 | DSPP | c.304G= (p.Glu102=)
| |
| 4 | g.87612490G>T | CA357603262 | DSPP | c.304G>T (p.Glu102Ter)
| |
| 4 | g.87612491A>C | CA357603263 | DSPP | c.305A>C (p.Glu102Ala)
| |
| 4 | g.87612491A>G | CA357603264 | DSPP | c.305A>G (p.Glu102Gly)
| |
| 4 | g.87612491A>T | CA357603265 | DSPP | c.305A>T (p.Glu102Val)
| |
| 4 | g.87612492A>C | CA357603267 | DSPP | c.306A>C (p.Glu102Asp)
| |
| 4 | g.87612492A>G | CA440294298 | DSPP | c.306A>G (p.Glu102=)
| |
| 4 | g.87612492A>T | CA357603266 | DSPP | c.306A>T (p.Glu102Asp)
| |
| 4 | g.87612493G>A | CA357603268 | DSPP | c.307G>A (p.Glu103Lys)
| gnomAD v4 |
| 4 | g.87612493G>C | CA357603269 | DSPP | c.307G>C (p.Glu103Gln)
| |
| 4 | g.87612493G>T | CA357603270 | DSPP | c.307G>T (p.Glu103Ter)
| |
| 4 | g.87612494A= | CA1474384467 | DSPP | c.308A= (p.Glu103=)
| |
| 4 | g.87612494A>C | CA357603271 | DSPP | c.308A>C (p.Glu103Ala)
| |
| 4 | g.87612494A>G | CA357603272 | DSPP | c.308A>G (p.Glu103Gly)
| |
| 4 | g.87612494A>T | CA357603273 | DSPP | c.308A>T (p.Glu103Val)
| dbSNP |
| 4 | g.87612495G>A | CA440294304 | DSPP | c.309G>A (p.Glu103=)
| |
| 4 | g.87612495G>C | CA357603274 | DSPP | c.309G>C (p.Glu103Asp)
| gnomAD v4 |
| 4 | g.87612495G>T | CA357603275 | DSPP | c.309G>T (p.Glu103Asp)
| |
| 4 | g.87612496G>A | CA357603276 | DSPP | c.310G>A (p.Gly104Arg)
| dbSNP |
| 4 | g.87612496G>C | CA357603277 | DSPP | c.310G>C (p.Gly104Arg)
| |
| 4 | g.87612496G>T | CA357603278 | DSPP | c.310G>T (p.Gly104Trp)
| |
| 4 | g.87612497G>A | CA357603281 | DSPP | c.311G>A (p.Gly104Glu)
| |
| 4 | g.87612497G>C | CA357603280 | DSPP | c.311G>C (p.Gly104Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612497G= | CA1474384468 | DSPP | c.311G= (p.Gly104=)
| |
| 4 | g.87612497G>T | CA357603279 | DSPP | c.311G>T (p.Gly104Val)
| |
| 4 | g.87612497_87612498insT | CA2671358391 | DSPP | c.311_312insT (p.Asn105GlufsTer3)
| gnomAD v4 |
| 4 | g.87612498G>A | CA440294306 | DSPP | c.312G>A (p.Gly104=)
| COSMIC |
| 4 | g.87612498G>C | CA440294308 | DSPP | c.312G>C (p.Gly104=)
| |
| 4 | g.87612498G>T | CA440294309 | DSPP | c.312G>T (p.Gly104=)
| |
| 4 | g.87612499A>C | CA357603282 | DSPP | c.313A>C (p.Asn105His)
| |
| 4 | g.87612499A>G | CA357603283 | DSPP | c.313A>G (p.Asn105Asp)
| |
| 4 | g.87612499A>T | CA357603284 | DSPP | c.313A>T (p.Asn105Tyr)
| |
| 4 | g.87612500A>C | CA357603285 | DSPP | c.314A>C (p.Asn105Thr)
| |
| 4 | g.87612500A>G | CA357603286 | DSPP | c.314A>G (p.Asn105Ser)
| |
| 4 | g.87612500A>T | CA357603287 | DSPP | c.314A>T (p.Asn105Ile)
| |
| 4 | g.87612501T>A | CA357603288 | DSPP | c.315T>A (p.Asn105Lys)
| |
| 4 | g.87612501T>C | CA440294315 | DSPP | c.315T>C (p.Asn105=)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612501T>G | CA357603289 | DSPP | c.315T>G (p.Asn105Lys)
| |
| 4 | g.87612501T= | CA1474384469 | DSPP | c.315T= (p.Asn105=)
| |
| 4 | g.87612502A>C | CA357603290 | DSPP | c.316A>C (p.Ile106Leu)
| |
| 4 | g.87612502A>G | CA357603291 | DSPP | c.316A>G (p.Ile106Val)
| |
| 4 | g.87612502A>T | CA357603292 | DSPP | c.316A>T (p.Ile106Phe)
| |
| 4 | g.87612503T>A | CA357603293 | DSPP | c.317T>A (p.Ile106Asn)
| COSMIC |
| 4 | g.87612503T>C | CA100849559 | DSPP | c.317T>C (p.Ile106Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612503T>G | CA357603294 | DSPP | c.317T>G (p.Ile106Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612503T= | CA1474384470 | DSPP | c.317T= (p.Ile106=)
| |
| 4 | g.87612504T>A | CA440294320 | DSPP | c.318T>A (p.Ile106=)
| |
| 4 | g.87612504T>C | CA440294321 | DSPP | c.318T>C (p.Ile106=)
| gnomAD v4 |
| 4 | g.87612504T>G | CA357603295 | DSPP | c.318T>G (p.Ile106Met)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612504T= | CA1474384471 | DSPP | c.318T= (p.Ile106=)
| |
| 4 | g.87612505G>A | CA357603296 | DSPP | c.319G>A (p.Glu107Lys)
| |
| 4 | g.87612505G>C | CA357603297 | DSPP | c.319G>C (p.Glu107Gln)
| |
| 4 | g.87612505G= | CA1474384472 | DSPP | c.319G= (p.Glu107=)
| |
| 4 | g.87612505G>T | CA357603298 | DSPP | c.319G>T (p.Glu107Ter)
| dbSNP gnomAD v2 |
| 4 | g.87612506A>C | CA357603299 | DSPP | c.320A>C (p.Glu107Ala)
| |
| 4 | g.87612506A>G | CA357603300 | DSPP | c.320A>G (p.Glu107Gly)
| |
| 4 | g.87612506A>T | CA357603301 | DSPP | c.320A>T (p.Glu107Val)
| |
| 4 | g.87612506_87612507delinsAG | CA1474384473 | DSPP | c.320_321delinsAG (p.Glu107=)
| |
| 4 | g.87612507G>A | CA440294323 | DSPP | c.321G>A (p.Glu107=)
| gnomAD v4 |
| 4 | g.87612507G>C | CA357603302 | DSPP | c.321G>C (p.Glu107Asp)
| |
| 4 | g.87612507G>T | CA357603303 | DSPP | c.321G>T (p.Glu107Asp)
| |
| 4 | g.87612509del | CA3000872 | DSPP | c.323del (p.Gly108AlafsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612508G>A | CA357603304 | DSPP | c.322G>A (p.Gly108Ser)
| COSMIC |
| 4 | g.87612508G>C | CA357603305 | DSPP | c.322G>C (p.Gly108Arg)
| |
| 4 | g.87612508G>T | CA357603306 | DSPP | c.322G>T (p.Gly108Cys)
| |
| 4 | g.87612509G>A | CA3000873 | DSPP | c.323G>A (p.Gly108Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612509G>C | CA357603308 | DSPP | c.323G>C (p.Gly108Ala)
| |
| 4 | g.87612509G= | CA1474384474 | DSPP | c.323G= (p.Gly108=)
| |
| 4 | g.87612509G>T | CA357603307 | DSPP | c.323G>T (p.Gly108Val)
| |
| 4 | g.87612510C>A | CA440294328 | DSPP | c.324C>A (p.Gly108=)
| gnomAD v4 |
| 4 | g.87612510C= | CA1474384475 | DSPP | c.324C= (p.Gly108=)
| |
| 4 | g.87612510C>G | CA440294329 | DSPP | c.324C>G (p.Gly108=)
| |
| 4 | g.87612510C>T | CA440294331 | DSPP | c.324C>T (p.Gly108=)
| dbSNP |
| 4 | g.87612511T>A | CA357603309 | DSPP | c.325T>A (p.Trp109Arg)
| |
| 4 | g.87612511T>C | CA357603311 | DSPP | c.325T>C (p.Trp109Arg)
| |
| 4 | g.87612511T>G | CA357603310 | DSPP | c.325T>G (p.Trp109Gly)
| |
| 4 | g.87612512G>A | CA357603312 | DSPP | c.326G>A (p.Trp109Ter)
| gnomAD v4 |
| 4 | g.87612512G>C | CA357603313 | DSPP | c.326G>C (p.Trp109Ser)
| |
| 4 | g.87612512G>T | CA357603314 | DSPP | c.326G>T (p.Trp109Leu)
| |
| 4 | g.87612513G>A | CA357603315 | DSPP | c.327G>A (p.Trp109Ter)
| COSMIC |
| 4 | g.87612513G>C | CA357603316 | DSPP | c.327G>C (p.Trp109Cys)
| |
| 4 | g.87612513G>T | CA357603317 | DSPP | c.327G>T (p.Trp109Cys)
| gnomAD v4 |
| 4 | g.87612514A>C | CA357603318 | DSPP | c.328A>C (p.Asn110His)
| |
| 4 | g.87612514A>G | CA357603319 | DSPP | c.328A>G (p.Asn110Asp)
| |
| 4 | g.87612514A>T | CA357603320 | DSPP | c.328A>T (p.Asn110Tyr)
| |
| 4 | g.87612515A>C | CA357603321 | DSPP | c.329A>C (p.Asn110Thr)
| |
| 4 | g.87612515A>G | CA357603322 | DSPP | c.329A>G (p.Asn110Ser)
| |
| 4 | g.87612515A>T | CA357603323 | DSPP | c.329A>T (p.Asn110Ile)
| |
| 4 | g.87612516T>A | CA357603325 | DSPP | c.330T>A (p.Asn110Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612516T>C | CA440294340 | DSPP | c.330T>C (p.Asn110=)
| gnomAD v4 |
| 4 | g.87612516T>G | CA357603324 | DSPP | c.330T>G (p.Asn110Lys)
| |
| 4 | g.87612516T= | CA1474384476 | DSPP | c.330T= (p.Asn110=)
| |
| 4 | g.87612517G>A | CA357603326 | DSPP | c.331G>A (p.Gly111Arg)
| |
| 4 | g.87612517G>C | CA357603327 | DSPP | c.331G>C (p.Gly111Arg)
| |
| 4 | g.87612517G>T | CA357603328 | DSPP | c.331G>T (p.Gly111Trp)
| |
| 4 | g.87612520del | CA2540060358 | DSPP | c.334del (p.Asp112ThrfsTer29)
| |
| 4 | g.87612518G>A | CA357603329 | DSPP | c.332G>A (p.Gly111Glu)
| dbSNP |
| 4 | g.87612518G>C | CA357603330 | DSPP | c.332G>C (p.Gly111Ala)
| |
| 4 | g.87612518G= | CA1474384477 | DSPP | c.332G= (p.Gly111=)
| |
| 4 | g.87612518G>T | CA357603331 | DSPP | c.332G>T (p.Gly111Val)
| |
| 4 | g.87612519G>A | CA440294344 | DSPP | c.333G>A (p.Gly111=)
| COSMIC |
| 4 | g.87612519G>C | CA440294346 | DSPP | c.333G>C (p.Gly111=)
| dbSNP gnomAD v4 |
| 4 | g.87612519G= | CA1474384478 | DSPP | c.333G= (p.Gly111=)
| |
| 4 | g.87612519G>T | CA440294347 | DSPP | c.333G>T (p.Gly111=)
| |
| 4 | g.87612520G>A | CA357603332 | DSPP | c.334G>A (p.Asp112Asn)
| |
| 4 | g.87612520G>C | CA357603333 | DSPP | c.334G>C (p.Asp112His)
| |
| 4 | g.87612520G>T | CA357603334 | DSPP | c.334G>T (p.Asp112Tyr)
| gnomAD v4 |
| 4 | g.87612521A>C | CA357603335 | DSPP | c.335A>C (p.Asp112Ala)
| |
| 4 | g.87612521A>G | CA357603336 | DSPP | c.335A>G (p.Asp112Gly)
| gnomAD v4 |
| 4 | g.87612521A>T | CA357603337 | DSPP | c.335A>T (p.Asp112Val)
| |
| 4 | g.87612522C>A | CA357603339 | DSPP | c.336C>A (p.Asp112Glu)
| |
| 4 | g.87612522C>G | CA357603338 | DSPP | c.336C>G (p.Asp112Glu)
| |
| 4 | g.87612522C>T | CA440294351 | DSPP | c.336C>T (p.Asp112=)
| |
| 4 | g.87612523A= | CA1474384479 | DSPP | c.337A= (p.Thr113=)
| |
| 4 | g.87612523A>C | CA357603340 | DSPP | c.337A>C (p.Thr113Pro)
| |
| 4 | g.87612523A>G | CA357603341 | DSPP | c.337A>G (p.Thr113Ala)
| dbSNP |
| 4 | g.87612523A>T | CA357603342 | DSPP | c.337A>T (p.Thr113Ser)
| |
| 4 | g.87612524C>A | CA357603343 | DSPP | c.338C>A (p.Thr113Lys)
| gnomAD v4 |
| 4 | g.87612524C= | CA1474384480 | DSPP | c.338C= (p.Thr113=)
| |
| 4 | g.87612524C>G | CA357603344 | DSPP | c.338C>G (p.Thr113Arg)
| |
| 4 | g.87612524C>T | CA3000874 | DSPP | c.338C>T (p.Thr113Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612525A= | CA1474384481 | DSPP | c.339A= (p.Thr113=)
| |
| 4 | g.87612525A>C | CA440294355 | DSPP | c.339A>C (p.Thr113=)
| |
| 4 | g.87612525A>G | CA3000875 | DSPP | c.339A>G (p.Thr113=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612525A>T | CA440294357 | DSPP | c.339A>T (p.Thr113=)
| |
| 4 | g.87612526G>A | CA3000876 | DSPP | c.340G>A (p.Gly114Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612526G>C | CA357603345 | DSPP | c.340G>C (p.Gly114Arg)
| |
| 4 | g.87612526G= | CA1474384482 | DSPP | c.340G= (p.Gly114=)
| |
| 4 | g.87612526G>T | CA357603346 | DSPP | c.340G>T (p.Gly114Ter)
| |
| 4 | g.87612527G>A | CA357603347 | DSPP | c.341G>A (p.Gly114Glu)
| COSMIC |
| 4 | g.87612527G>C | CA357603348 | DSPP | c.341G>C (p.Gly114Ala)
| |
| 4 | g.87612527G>T | CA357603349 | DSPP | c.341G>T (p.Gly114Val)
| |
| 4 | g.87612528A>C | CA440294365 | DSPP | c.342A>C (p.Gly114=)
| |
| 4 | g.87612528A>G | CA440294366 | DSPP | c.342A>G (p.Gly114=)
| |
| 4 | g.87612528A>T | CA440294367 | DSPP | c.342A>T (p.Gly114=)
| |
| 4 | g.87612529A= | CA1474384483 | DSPP | c.343A= (p.Lys115=)
| |
| 4 | g.87612529A>C | CA357603352 | DSPP | c.343A>C (p.Lys115Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612529A>G | CA357603350 | DSPP | c.343A>G (p.Lys115Glu)
| |
| 4 | g.87612529A>T | CA357603351 | DSPP | c.343A>T (p.Lys115Ter)
| |
| 4 | g.87612530A>C | CA357603353 | DSPP | c.344A>C (p.Lys115Thr)
| |
| 4 | g.87612530A>G | CA357603354 | DSPP | c.344A>G (p.Lys115Arg)
| |
| 4 | g.87612530A>T | CA357603355 | DSPP | c.344A>T (p.Lys115Ile)
| |
| 4 | g.87612531A= | CA1474384484 | DSPP | c.345A= (p.Lys115=)
| |
| 4 | g.87612531A>C | CA357603356 | DSPP | c.345A>C (p.Lys115Asn)
| |
| 4 | g.87612531A>G | CA3000877 | DSPP | c.345A>G (p.Lys115=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612531A>T | CA357603357 | DSPP | c.345A>T (p.Lys115Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612532G>A | CA357603358 | DSPP | c.346G>A (p.Ala116Thr)
| |
| 4 | g.87612532G>C | CA357603359 | DSPP | c.346G>C (p.Ala116Pro)
| |
| 4 | g.87612532G>T | CA357603360 | DSPP | c.346G>T (p.Ala116Ser)
| |
| 4 | g.87612533C>A | CA357603361 | DSPP | c.347C>A (p.Ala116Glu)
| |
| 4 | g.87612533C>G | CA357603362 | DSPP | c.347C>G (p.Ala116Gly)
| |
| 4 | g.87612533C>T | CA357603363 | DSPP | c.347C>T (p.Ala116Val)
| gnomAD v4 |
| 4 | g.87612534A>C | CA440294379 | DSPP | c.348A>C (p.Ala116=)
| |
| 4 | g.87612534A>G | CA440294381 | DSPP | c.348A>G (p.Ala116=)
| |
| 4 | g.87612534A>T | CA440294383 | DSPP | c.348A>T (p.Ala116=)
| |
| 4 | g.87612535G>A | CA357603366 | DSPP | c.349G>A (p.Glu117Lys)
| dbSNP |
| 4 | g.87612535G>C | CA357603365 | DSPP | c.349G>C (p.Glu117Gln)
| |
| 4 | g.87612535G= | CA1474384485 | DSPP | c.349G= (p.Glu117=)
| |
| 4 | g.87612535G>T | CA357603364 | DSPP | c.349G>T (p.Glu117Ter)
| |
| 4 | g.87612536A>C | CA357603367 | DSPP | c.350A>C (p.Glu117Ala)
| |
| 4 | g.87612536A>G | CA357603369 | DSPP | c.350A>G (p.Glu117Gly)
| |
| 4 | g.87612536A>T | CA357603368 | DSPP | c.350A>T (p.Glu117Val)
| |
| 4 | g.87612537A= | CA1474384486 | DSPP | c.351A= (p.Glu117=)
| |
| 4 | g.87612537A>C | CA357603370 | DSPP | c.351A>C (p.Glu117Asp)
| dbSNP gnomAD v4 |
| 4 | g.87612537A>G | CA440294069 | DSPP | c.351A>G (p.Glu117=)
| |
| 4 | g.87612537A>T | CA357603371 | DSPP | c.351A>T (p.Glu117Asp)
| |
| 4 | g.87612538A>C | CA357603372 | DSPP | c.352A>C (p.Thr118Pro)
| |
| 4 | g.87612538A>G | CA357603374 | DSPP | c.352A>G (p.Thr118Ala)
| |
| 4 | g.87612538A>T | CA357603373 | DSPP | c.352A>T (p.Thr118Ser)
| |
| 4 | g.87612539C>A | CA357603375 | DSPP | c.353C>A (p.Thr118Lys)
| |
| 4 | g.87612539C= | CA1474384487 | DSPP | c.353C= (p.Thr118=)
| |
| 4 | g.87612539C>G | CA357603376 | DSPP | c.353C>G (p.Thr118Arg)
| |
| 4 | g.87612539C>T | CA3000878 | DSPP | c.353C>T (p.Thr118Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612539_87612541delinsCAT | CA1474384488 | DSPP | c.353_355delinsCAT (p.Thr118=)
| |
| 4 | g.87612540A= | CA1474384489 | DSPP | c.354A= (p.Thr118=)
| |
| 4 | g.87612540A>C | CA440294075 | DSPP | c.354A>C (p.Thr118=)
| |
| 4 | g.87612540A>G | CA440294077 | DSPP | c.354A>G (p.Thr118=)
| dbSNP gnomAD v4 |
| 4 | g.87612540A>T | CA440294078 | DSPP | c.354A>T (p.Thr118=)
| |
| 4 | g.87612542_87612543del | CA553085319 | DSPP | c.356_357del (p.Tyr119TrpfsTer3)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612541T>A | CA357603377 | DSPP | c.355T>A (p.Tyr119Asn)
| |
| 4 | g.87612541T>C | CA357603381 | DSPP | c.355T>C (p.Tyr119His)
| gnomAD v3 gnomAD v4 |
| 4 | g.87612541T>G | CA357603379 | DSPP | c.355T>G (p.Tyr119Asp)
| |
| 4 | g.87612542A= | CA1474384490 | DSPP | c.356A= (p.Tyr119=)
| |
| 4 | g.87612542A>C | CA357603382 | DSPP | c.356A>C (p.Tyr119Ser)
| |
| 4 | g.87612542A>G | CA357603383 | DSPP | c.356A>G (p.Tyr119Cys)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612542A>T | CA357603384 | DSPP | c.356A>T (p.Tyr119Phe)
| |
| 4 | g.87612543T>A | CA3000879 | DSPP | c.357T>A (p.Tyr119Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612543T>C | CA440294082 | DSPP | c.357T>C (p.Tyr119=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.87612543T>G | CA357603385 | DSPP | c.357T>G (p.Tyr119Ter)
| gnomAD v4 |
| 4 | g.87612543T= | CA1474384491 | DSPP | c.357T= (p.Tyr119=)
| |
| 4 | g.87612543_87612544delinsTG | CA1474384492 | DSPP | c.357_358delinsTG (p.Tyr119=)
| |
| 4 | g.87612544G>A | CA357603386 | DSPP | c.358G>A (p.Gly120Ser)
| |
| 4 | g.87612544G>C | CA357603387 | DSPP | c.358G>C (p.Gly120Arg)
| |
| 4 | g.87612544G>T | CA357603388 | DSPP | c.358G>T (p.Gly120Cys)
| gnomAD v4 |
| 4 | g.87612545del | CA553085320 | DSPP | c.359del (p.Gly120ValfsTer21)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612545G>A | CA3000880 | DSPP | c.359G>A (p.Gly120Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612545G>C | CA357603389 | DSPP | c.359G>C (p.Gly120Ala)
| |
| 4 | g.87612545G= | CA1474384493 | DSPP | c.359G= (p.Gly120=)
| |
| 4 | g.87612545G>T | CA357603391 | DSPP | c.359G>T (p.Gly120Val)
| |
| 4 | g.87612546T>A | CA440294085 | DSPP | c.360T>A (p.Gly120=)
| gnomAD v4 |
| 4 | g.87612546T>C | CA440294087 | DSPP | c.360T>C (p.Gly120=)
| |
| 4 | g.87612546T>G | CA440294088 | DSPP | c.360T>G (p.Gly120=)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612547C>A | CA357603392 | DSPP | c.361C>A (p.His121Asn)
| gnomAD v4 |
| 4 | g.87612547C>G | CA357603395 | DSPP | c.361C>G (p.His121Asp)
| |
| 4 | g.87612547C>T | CA357603393 | DSPP | c.361C>T (p.His121Tyr)
| |
| 4 | g.87612548A= | CA1474384494 | DSPP | c.362A= (p.His121=)
| |
| 4 | g.87612548A>C | CA357603396 | DSPP | c.362A>C (p.His121Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612548A>G | CA357603397 | DSPP | c.362A>G (p.His121Arg)
| |
| 4 | g.87612548A>T | CA357603398 | DSPP | c.362A>T (p.His121Leu)
| |
| 4 | g.87612549T>A | CA357603399 | DSPP | c.363T>A (p.His121Gln)
| |
| 4 | g.87612549T>C | CA3000881 | DSPP | c.363T>C (p.His121=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612549T>G | CA357603400 | DSPP | c.363T>G (p.His121Gln)
| |
| 4 | g.87612549T= | CA1474384495 | DSPP | c.363T= (p.His121=)
| |
| 4 | g.87612550G>A | CA357603401 | DSPP | c.364G>A (p.Asp122Asn)
| COSMIC |
| 4 | g.87612550G>C | CA357603402 | DSPP | c.364G>C (p.Asp122His)
| |
| 4 | g.87612550G>T | CA357603403 | DSPP | c.364G>T (p.Asp122Tyr)
| gnomAD v4 |
| 4 | g.87612551A>C | CA357603405 | DSPP | c.365A>C (p.Asp122Ala)
| |
| 4 | g.87612551A>G | CA357603406 | DSPP | c.365A>G (p.Asp122Gly)
| gnomAD v4 |
| 4 | g.87612551A>T | CA357603404 | DSPP | c.365A>T (p.Asp122Val)
| |
| 4 | g.87612552T>A | CA357603407 | DSPP | c.366T>A (p.Asp122Glu)
| |
| 4 | g.87612552T>C | CA440294092 | DSPP | c.366T>C (p.Asp122=)
| dbSNP |
| 4 | g.87612552T>G | CA357603408 | DSPP | c.366T>G (p.Asp122Glu)
| |
| 4 | g.87612552T= | CA1474384496 | DSPP | c.366T= (p.Asp122=)
| |
| 4 | g.87612553G>A | CA357603409 | DSPP | c.367G>A (p.Gly123Arg)
| |
| 4 | g.87612553G>C | CA357603410 | DSPP | c.367G>C (p.Gly123Arg)
| |
| 4 | g.87612553G= | CA1474384498 | DSPP | c.367G= (p.Gly123=)
| |
| 4 | g.87612553G>T | CA357603411 | DSPP | c.367G>T (p.Gly123Ter)
| |
| 4 | g.87612553_87612557delinsGGAAT | CA1474384497 | DSPP | c.367_371delinsGGAAT (p.Gly123=)
| |
| 4 | g.87612553_87612554insAACATATGTTCATCATGGGAAAGAA | CA3000882 | DSPP | c.367_368insAACATATGTTCATCATGGGAAAGAA (p.Gly123GlufsTer30)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612554G>A | CA357603412 | DSPP | c.368G>A (p.Gly123Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612554G>C | CA3000883 | DSPP | c.368G>C (p.Gly123Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612554G= | CA1474384499 | DSPP | c.368G= (p.Gly123=)
| |
| 4 | g.87612554G>T | CA357603413 | DSPP | c.368G>T (p.Gly123Val)
| |
| 4 | g.87612554_87612557delinsAACATATGTTCATCATGGGAAAGAAGAAA | CA916082649 | DSPP | c.368_371delinsAACATATGTTCATCATGGGAAAGAAGAAA (p.Gly123GlufsTer30)
| ClinVar dbSNP |
| 4 | g.87612555A>C | CA440294097 | DSPP | c.369A>C (p.Gly123=)
| COSMIC |
| 4 | g.87612555A>G | CA440294098 | DSPP | c.369A>G (p.Gly123=)
| |
| 4 | g.87612555A>T | CA440294100 | DSPP | c.369A>T (p.Gly123=)
| |
| 4 | g.87612555_87612556insC | CA2578139835 | DSPP | c.369_370insC (p.Ile124HisfsTer21)
| |
| 4 | g.87612556A>C | CA357603414 | DSPP | c.370A>C (p.Ile124Leu)
| |
| 4 | g.87612556A>G | CA357603415 | DSPP | c.370A>G (p.Ile124Val)
| |
| 4 | g.87612556A>T | CA357603416 | DSPP | c.370A>T (p.Ile124Leu)
| |
| 4 | g.87612557T>A | CA3000884 | DSPP | c.371T>A (p.Ile124Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612557T>C | CA357603417 | DSPP | c.371T>C (p.Ile124Thr)
| |
| 4 | g.87612557T>G | CA357603418 | DSPP | c.371T>G (p.Ile124Arg)
| |
| 4 | g.87612557T= | CA1474384500 | DSPP | c.371T= (p.Ile124=)
| |
| 4 | g.87612558A>C | CA440294103 | DSPP | c.372A>C (p.Ile124=)
| |
| 4 | g.87612558A>G | CA357603419 | DSPP | c.372A>G (p.Ile124Met)
| |
| 4 | g.87612558A>T | CA440294104 | DSPP | c.372A>T (p.Ile124=)
| |
| 4 | g.87612558_87612559insTGTTCAT | CA2578139836 | DSPP | c.372_373insTGTTCAT (p.His125CysfsTer22)
| |
| 4 | g.87612559C>A | CA357603420 | DSPP | c.373C>A (p.His125Asn)
| |
| 4 | g.87612559C= | CA1474384501 | DSPP | c.373C= (p.His125=)
| |
| 4 | g.87612559C>G | CA357603421 | DSPP | c.373C>G (p.His125Asp)
| |
| 4 | g.87612559C>T | CA357603422 | DSPP | c.373C>T (p.His125Tyr)
| dbSNP gnomAD v4 |
| 4 | g.87612560A>C | CA357603423 | DSPP | c.374A>C (p.His125Pro)
| |
| 4 | g.87612560A>G | CA357603424 | DSPP | c.374A>G (p.His125Arg)
| |
| 4 | g.87612560A>T | CA357603425 | DSPP | c.374A>T (p.His125Leu)
| |
| 4 | g.87612561T>A | CA357603426 | DSPP | c.375T>A (p.His125Gln)
| |
| 4 | g.87612561T>C | CA440294110 | DSPP | c.375T>C (p.His125=)
| dbSNP gnomAD v2 |
| 4 | g.87612561T>G | CA357603427 | DSPP | c.375T>G (p.His125Gln)
| |
| 4 | g.87612561T= | CA1474384502 | DSPP | c.375T= (p.His125=)
| |
| 4 | g.87612562G>A | CA357603428 | DSPP | c.376G>A (p.Gly126Arg)
| |
| 4 | g.87612562G>C | CA357603429 | DSPP | c.376G>C (p.Gly126Arg)
| |
| 4 | g.87612562G>T | CA357603430 | DSPP | c.376G>T (p.Gly126Trp)
| |
| 4 | g.87612563G>A | CA357603433 | DSPP | c.377G>A (p.Gly126Glu)
| gnomAD v4 |
| 4 | g.87612563G>C | CA357603432 | DSPP | c.377G>C (p.Gly126Ala)
| dbSNP gnomAD v4 |
| 4 | g.87612563G= | CA1474384503 | DSPP | c.377G= (p.Gly126=)
| |
| 4 | g.87612563G>T | CA357603431 | DSPP | c.377G>T (p.Gly126Val)
| |
| 4 | g.87612564G>A | CA440294116 | DSPP | c.378G>A (p.Gly126=)
| |
| 4 | g.87612564G>C | CA440294117 | DSPP | c.378G>C (p.Gly126=)
| |
| 4 | g.87612564G>T | CA440294118 | DSPP | c.378G>T (p.Gly126=)
| COSMIC |
| 4 | g.87612565A>C | CA357603434 | DSPP | c.379A>C (p.Lys127Gln)
| |
| 4 | g.87612565A>G | CA357603436 | DSPP | c.379A>G (p.Lys127Glu)
| |
| 4 | g.87612565A>T | CA357603435 | DSPP | c.379A>T (p.Lys127Ter)
| |
| 4 | g.87612566A= | CA1474384504 | DSPP | c.380A= (p.Lys127=)
| |
| 4 | g.87612566A>C | CA357603437 | DSPP | c.380A>C (p.Lys127Thr)
| |
| 4 | g.87612566A>G | CA357603438 | DSPP | c.380A>G (p.Lys127Arg)
| dbSNP |
| 4 | g.87612566A>T | CA357603439 | DSPP | c.380A>T (p.Lys127Ile)
| |
| 4 | g.87612567A= | CA1474384505 | DSPP | c.381A= (p.Lys127=)
| |
| 4 | g.87612567A>C | CA357603440 | DSPP | c.381A>C (p.Lys127Asn)
| |
| 4 | g.87612567A>G | CA440294122 | DSPP | c.381A>G (p.Lys127=)
| dbSNP |
| 4 | g.87612567A>T | CA357603441 | DSPP | c.381A>T (p.Lys127Asn)
| |
| 4 | g.87612568G>A | CA357603442 | DSPP | c.382G>A (p.Glu128Lys)
| |
| 4 | g.87612568G>C | CA357603443 | DSPP | c.382G>C (p.Glu128Gln)
| |
| 4 | g.87612568G>T | CA357603444 | DSPP | c.382G>T (p.Glu128Ter)
| ClinVar gnomAD v4 |
