Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.152862685C>A | CA519157386 | NSDHL | c.504C>A (p.Pro168=) c.552C>A (p.Pro184=) | |
X | g.152862685C>G | CA519157387 | NSDHL | c.504C>G (p.Pro168=) c.552C>G (p.Pro184=) | |
X | g.152862685C>T | CA519157388 | NSDHL | c.504C>T (p.Pro168=) c.552C>T (p.Pro184=) | |
X | g.152862686A= | CA2466152390 | NSDHL | c.505A= (p.Ile169=) c.553A= (p.Ile185=) | |
X | g.152862686A>C | CA415285314 | NSDHL | c.505A>C (p.Ile169Leu) c.553A>C (p.Ile185Leu) | |
X | g.152862686A>G | CA10544775 | NSDHL | c.505A>G (p.Ile169Val) c.553A>G (p.Ile185Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152862686A>T | CA415285315 | NSDHL | c.505A>T (p.Ile169Phe) c.553A>T (p.Ile185Phe) | |
X | g.152862687T>A | CA415285316 | NSDHL | c.506T>A (p.Ile169Asn) c.554T>A (p.Ile185Asn) | |
X | g.152862687T>C | CA10544776 | NSDHL | c.506T>C (p.Ile169Thr) c.554T>C (p.Ile185Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152862687T>G | CA415285317 | NSDHL | c.506T>G (p.Ile169Ser) c.554T>G (p.Ile185Ser) | |
X | g.152862687T= | CA2466152391 | NSDHL | c.506T= (p.Ile169=) c.554T= (p.Ile185=) | |
X | g.152862688T>A | CA519157389 | NSDHL | c.507T>A (p.Ile169=) c.555T>A (p.Ile185=) | |
X | g.152862688T>C | CA519157390 | NSDHL | c.507T>C (p.Ile169=) c.555T>C (p.Ile185=) | |
X | g.152862688T>G | CA415285318 | NSDHL | c.507T>G (p.Ile169Met) c.555T>G (p.Ile185Met) | |
X | g.152862689G>A | CA415285319 | NSDHL | c.508G>A (p.Asp170Asn) c.556G>A (p.Asp186Asn) | |
X | g.152862689G>C | CA415285320 | NSDHL | c.508G>C (p.Asp170His) c.556G>C (p.Asp186His) | |
X | g.152862689G>T | CA415285321 | NSDHL | c.508G>T (p.Asp170Tyr) c.556G>T (p.Asp186Tyr) | |
X | g.152862690A>C | CA415285322 | NSDHL | c.509A>C (p.Asp170Ala) c.557A>C (p.Asp186Ala) | |
X | g.152862690A>G | CA415285323 | NSDHL | c.509A>G (p.Asp170Gly) c.557A>G (p.Asp186Gly) | |
X | g.152862690A>T | CA415285324 | NSDHL | c.509A>T (p.Asp170Val) c.557A>T (p.Asp186Val) | |
X | g.152862691C>A | CA415285325 | NSDHL | c.510C>A (p.Asp170Glu) c.558C>A (p.Asp186Glu) | |
X | g.152862691C>G | CA415285326 | NSDHL | c.510C>G (p.Asp170Glu) c.558C>G (p.Asp186Glu) | |
X | g.152862691C>T | CA519157391 | NSDHL | c.510C>T (p.Asp170=) c.558C>T (p.Asp186=) | |
X | g.152862692T>A | CA415285327 | NSDHL | c.511T>A (p.Tyr171Asn) c.559T>A (p.Tyr187Asn) | |
X | g.152862692T>C | CA415285328 | NSDHL | c.511T>C (p.Tyr171His) c.559T>C (p.Tyr187His) | |
X | g.152862692T>G | CA415285329 | NSDHL | c.511T>G (p.Tyr171Asp) c.559T>G (p.Tyr187Asp) | |
X | g.152862693A= | CA2466152392 | NSDHL | c.512A= (p.Tyr171=) c.560A= (p.Tyr187=) | |
X | g.152862693A>C | CA415285330 | NSDHL | c.512A>C (p.Tyr171Ser) c.560A>C (p.Tyr187Ser) | |
X | g.152862693A>G | CA415285331 | NSDHL | c.512A>G (p.Tyr171Cys) c.560A>G (p.Tyr187Cys) | dbSNP gnomAD v2 gnomAD v4 |
X | g.152862693A>T | CA415285332 | NSDHL | c.512A>T (p.Tyr171Phe) c.560A>T (p.Tyr187Phe) | |
X | g.152862694C>A | CA415285333 | NSDHL | c.513C>A (p.Tyr171Ter) c.561C>A (p.Tyr187Ter) | |
X | g.152862694C>G | CA415285334 | NSDHL | c.513C>G (p.Tyr171Ter) c.561C>G (p.Tyr187Ter) | |
X | g.152862694C>T | CA519157392 | NSDHL | c.513C>T (p.Tyr171=) c.561C>T (p.Tyr187=) | |
X | g.152862695T>A | CA415285335 | NSDHL | c.514T>A (p.Tyr172Asn) c.562T>A (p.Tyr188Asn) | |
X | g.152862695T>C | CA415285336 | NSDHL | c.514T>C (p.Tyr172His) c.562T>C (p.Tyr188His) | |
X | g.152862695T>G | CA415285337 | NSDHL | c.514T>G (p.Tyr172Asp) c.562T>G (p.Tyr188Asp) | |
X | g.152862696A>C | CA415285340 | NSDHL | c.515A>C (p.Tyr172Ser) c.563A>C (p.Tyr188Ser) | |
X | g.152862696A>G | CA415285339 | NSDHL | c.515A>G (p.Tyr172Cys) c.563A>G (p.Tyr188Cys) | |
X | g.152862696A>T | CA415285338 | NSDHL | c.515A>T (p.Tyr172Phe) c.563A>T (p.Tyr188Phe) | |
X | g.152862697C>A | CA415285341 | NSDHL | c.516C>A (p.Tyr172Ter) c.564C>A (p.Tyr188Ter) | |
X | g.152862697C>G | CA415285342 | NSDHL | c.516C>G (p.Tyr172Ter) c.564C>G (p.Tyr188Ter) | |
X | g.152862697C>T | CA519157393 | NSDHL | c.516C>T (p.Tyr172=) c.564C>T (p.Tyr188=) | |
X | g.152862698A>C | CA415285343 | NSDHL | c.517A>C (p.Thr173Pro) c.565A>C (p.Thr189Pro) | |
X | g.152862698A>G | CA415285345 | NSDHL | c.517A>G (p.Thr173Ala) c.565A>G (p.Thr189Ala) | |
X | g.152862698A>T | CA415285344 | NSDHL | c.517A>T (p.Thr173Ser) c.565A>T (p.Thr189Ser) | |
X | g.152862699C>A | CA415285346 | NSDHL | c.518C>A (p.Thr173Lys) c.566C>A (p.Thr189Lys) | gnomAD v4 |
X | g.152862699C>G | CA415285350 | NSDHL | c.518C>G (p.Thr173Arg) c.566C>G (p.Thr189Arg) | |
X | g.152862699C>T | CA415285348 | NSDHL | c.518C>T (p.Thr173Ile) c.566C>T (p.Thr189Ile) | |
X | g.152862700A= | CA2466152393 | NSDHL | c.519A= (p.Thr173=) c.567A= (p.Thr189=) | |
X | g.152862700A>C | CA519157394 | NSDHL | c.519A>C (p.Thr173=) c.567A>C (p.Thr189=) | COSMIC |
X | g.152862700A>G | CA337612344 | NSDHL | c.519A>G (p.Thr173=) c.567A>G (p.Thr189=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.152862700A>T | CA519157395 | NSDHL | c.519A>T (p.Thr173=) c.567A>T (p.Thr189=) | |
X | g.152862701G>A | CA415285352 | NSDHL | c.520G>A (p.Glu174Lys) c.568G>A (p.Glu190Lys) | |
X | g.152862701G>C | CA415285356 | NSDHL | c.520G>C (p.Glu174Gln) c.568G>C (p.Glu190Gln) | |
X | g.152862701G>T | CA415285354 | NSDHL | c.520G>T (p.Glu174Ter) c.568G>T (p.Glu190Ter) | |
X | g.152862702A>C | CA415285358 | NSDHL | c.521A>C (p.Glu174Ala) c.569A>C (p.Glu190Ala) | |
X | g.152862702A>G | CA415285362 | NSDHL | c.521A>G (p.Glu174Gly) c.569A>G (p.Glu190Gly) | |
X | g.152862702A>T | CA415285360 | NSDHL | c.521A>T (p.Glu174Val) c.569A>T (p.Glu190Val) | |
X | g.152862703G>A | CA519157396 | NSDHL | c.522G>A (p.Glu174=) c.570G>A (p.Glu190=) | |
X | g.152862703G>C | CA415285363 | NSDHL | c.522G>C (p.Glu174Asp) c.570G>C (p.Glu190Asp) | |
X | g.152862703G>T | CA415285365 | NSDHL | c.522G>T (p.Glu174Asp) c.570G>T (p.Glu190Asp) | |
X | g.152862704A>C | CA415285367 | NSDHL | c.523A>C (p.Thr175Pro) c.571A>C (p.Thr191Pro) | |
X | g.152862704A>G | CA415285369 | NSDHL | c.523A>G (p.Thr175Ala) c.571A>G (p.Thr191Ala) | |
X | g.152862704A>T | CA415285371 | NSDHL | c.523A>T (p.Thr175Ser) c.571A>T (p.Thr191Ser) | |
X | g.152862705C>A | CA415285373 | NSDHL | c.524C>A (p.Thr175Asn) c.572C>A (p.Thr191Asn) | |
X | g.152862705C>G | CA415285375 | NSDHL | c.524C>G (p.Thr175Ser) c.572C>G (p.Thr191Ser) | |
X | g.152862705C>T | CA415285376 | NSDHL | c.524C>T (p.Thr175Ile) c.572C>T (p.Thr191Ile) | |
X | g.152862706T>A | CA519157399 | NSDHL | c.525T>A (p.Thr175=) c.573T>A (p.Thr191=) | |
X | g.152862706T>C | CA519157398 | NSDHL | c.525T>C (p.Thr175=) c.573T>C (p.Thr191=) | |
X | g.152862706T>G | CA519157397 | NSDHL | c.525T>G (p.Thr175=) c.573T>G (p.Thr191=) | |
X | g.152862707A>C | CA415285379 | NSDHL | c.526A>C (p.Lys176Gln) c.574A>C (p.Lys192Gln) | |
X | g.152862707A>G | CA415285381 | NSDHL | c.526A>G (p.Lys176Glu) c.574A>G (p.Lys192Glu) | |
X | g.152862707A>T | CA415285383 | NSDHL | c.526A>T (p.Lys176Ter) c.574A>T (p.Lys192Ter) | |
X | g.152862708del | CA2579725465 | NSDHL | c.527del (p.Lys176ArgfsTer19) c.575del (p.Lys192ArgfsTer19) | |
X | g.152862708A>C | CA415285385 | NSDHL | c.527A>C (p.Lys176Thr) c.575A>C (p.Lys192Thr) | |
X | g.152862708A>G | CA415285386 | NSDHL | c.527A>G (p.Lys176Arg) c.575A>G (p.Lys192Arg) | |
X | g.152862708A>T | CA415285389 | NSDHL | c.527A>T (p.Lys176Met) c.575A>T (p.Lys192Met) | |
X | g.152862709G>A | CA519157400 | NSDHL | c.528G>A (p.Lys176=) c.576G>A (p.Lys192=) | |
X | g.152862709G>C | CA415285391 | NSDHL | c.528G>C (p.Lys176Asn) c.576G>C (p.Lys192Asn) | |
X | g.152862709G>T | CA415285390 | NSDHL | c.528G>T (p.Lys176Asn) c.576G>T (p.Lys192Asn) | |
X | g.152862710A= | CA2466152394 | NSDHL | c.529A= (p.Ile177=) c.577A= (p.Ile193=) | |
X | g.152862710A>C | CA415285392 | NSDHL | c.529A>C (p.Ile177Leu) c.577A>C (p.Ile193Leu) | |
X | g.152862710A>G | CA337612347 | NSDHL | c.529A>G (p.Ile177Val) c.577A>G (p.Ile193Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152862710A>T | CA415285393 | NSDHL | c.529A>T (p.Ile177Phe) c.577A>T (p.Ile193Phe) | |
X | g.152862711T>A | CA415285396 | NSDHL | c.530T>A (p.Ile177Asn) c.578T>A (p.Ile193Asn) | |
X | g.152862711T>C | CA415285398 | NSDHL | c.530T>C (p.Ile177Thr) c.578T>C (p.Ile193Thr) | |
X | g.152862711T>G | CA415285399 | NSDHL | c.530T>G (p.Ile177Ser) c.578T>G (p.Ile193Ser) | |
X | g.152862712C>A | CA519157401 | NSDHL | c.531C>A (p.Ile177=) c.579C>A (p.Ile193=) | |
X | g.152862712C>G | CA415285401 | NSDHL | c.531C>G (p.Ile177Met) c.579C>G (p.Ile193Met) | |
X | g.152862712C>T | CA519157402 | NSDHL | c.531C>T (p.Ile177=) c.579C>T (p.Ile193=) | |
X | g.152862713T>A | CA415285404 | NSDHL | c.532T>A (p.Leu178Ile) c.580T>A (p.Leu194Ile) | |
X | g.152862713T>C | CA519157403 | NSDHL | c.532T>C (p.Leu178=) c.580T>C (p.Leu194=) | |
X | g.152862713T>G | CA415285405 | NSDHL | c.532T>G (p.Leu178Val) c.580T>G (p.Leu194Val) | |
X | g.152862714del | CA2579725466 | NSDHL | c.533del (p.Leu178TyrfsTer17) c.581del (p.Leu194TyrfsTer17) | |
X | g.152862714T>A | CA415285408 | NSDHL | c.533T>A (p.Leu178Ter) c.581T>A (p.Leu194Ter) | |
X | g.152862714T>C | CA415285409 | NSDHL | c.533T>C (p.Leu178Ser) c.581T>C (p.Leu194Ser) | |
X | g.152862714T>G | CA415285412 | NSDHL | c.533T>G (p.Leu178Ter) c.581T>G (p.Leu194Ter) | |
X | g.152862715A= | CA2466152395 | NSDHL | c.534A= (p.Leu178=) c.582A= (p.Leu194=) | |
X | g.152862715A>C | CA415285414 | NSDHL | c.534A>C (p.Leu178Phe) c.582A>C (p.Leu194Phe) | |
X | g.152862715A>G | CA10544777 | NSDHL | c.534A>G (p.Leu178=) c.582A>G (p.Leu194=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.152862715A>T | CA415285417 | NSDHL | c.534A>T (p.Leu178Phe) c.582A>T (p.Leu194Phe) | |
X | g.152862716C>A | CA415285419 | NSDHL | c.535C>A (p.Gln179Lys) c.583C>A (p.Gln195Lys) | |
X | g.152862716C>G | CA415285421 | NSDHL | c.535C>G (p.Gln179Glu) c.583C>G (p.Gln195Glu) | |
X | g.152862716C>T | CA415285423 | NSDHL | c.535C>T (p.Gln179Ter) c.583C>T (p.Gln195Ter) | |
X | g.152862717A>C | CA415285425 | NSDHL | c.536A>C (p.Gln179Pro) c.584A>C (p.Gln195Pro) | |
X | g.152862717A>G | CA415285427 | NSDHL | c.536A>G (p.Gln179Arg) c.584A>G (p.Gln195Arg) | |
X | g.152862717A>T | CA415285429 | NSDHL | c.536A>T (p.Gln179Leu) c.584A>T (p.Gln195Leu) | |
X | g.152862718G>A | CA519157404 | NSDHL | c.537G>A (p.Gln179=) c.585G>A (p.Gln195=) | gnomAD v4 |
X | g.152862718G>C | CA415285431 | NSDHL | c.537G>C (p.Gln179His) c.585G>C (p.Gln195His) | |
X | g.152862718G>T | CA415285433 | NSDHL | c.537G>T (p.Gln179His) c.585G>T (p.Gln195His) | |
X | g.152862719G>A | CA415285436 | NSDHL | c.538G>A (p.Glu180Lys) c.586G>A (p.Glu196Lys) | |
X | g.152862719G>C | CA415285438 | NSDHL | c.538G>C (p.Glu180Gln) c.586G>C (p.Glu196Gln) | |
X | g.152862719G>T | CA415285440 | NSDHL | c.538G>T (p.Glu180Ter) c.586G>T (p.Glu196Ter) | |
X | g.152862720A>C | CA415285446 | NSDHL | c.539A>C (p.Glu180Ala) c.587A>C (p.Glu196Ala) | |
X | g.152862720A>G | CA415285442 | NSDHL | c.539A>G (p.Glu180Gly) c.587A>G (p.Glu196Gly) | |
X | g.152862720A>T | CA415285444 | NSDHL | c.539A>T (p.Glu180Val) c.587A>T (p.Glu196Val) | |
X | g.152862721G>A | CA519157405 | NSDHL | c.540G>A (p.Glu180=) c.588G>A (p.Glu196=) | |
X | g.152862721G>C | CA415285448 | NSDHL | c.540G>C (p.Glu180Asp) c.588G>C (p.Glu196Asp) | |
X | g.152862721G>T | CA415285450 | NSDHL | c.540G>T (p.Glu180Asp) c.588G>T (p.Glu196Asp) | |
X | g.152862722A>C | CA519157406 | NSDHL | c.541A>C (p.Arg181=) c.589A>C (p.Arg197=) | |
X | g.152862722A>G | CA415285452 | NSDHL | c.541A>G (p.Arg181Gly) c.589A>G (p.Arg197Gly) | |
X | g.152862722A>T | CA415285454 | NSDHL | c.541A>T (p.Arg181Trp) c.589A>T (p.Arg197Trp) | gnomAD v4 |
X | g.152862723G>A | CA415285456 | NSDHL | c.542G>A (p.Arg181Lys) c.590G>A (p.Arg197Lys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.152862723G>C | CA415285457 | NSDHL | c.542G>C (p.Arg181Thr) c.590G>C (p.Arg197Thr) | |
X | g.152862723G= | CA2466152396 | NSDHL | c.542G= (p.Arg181=) c.590G= (p.Arg197=) | |
X | g.152862723G>T | CA415285459 | NSDHL | c.542G>T (p.Arg181Met) c.590G>T (p.Arg197Met) | |
X | g.152862724G>A | CA519157407 | NSDHL | c.543G>A (p.Arg181=) c.591G>A (p.Arg197=) | |
X | g.152862724G>C | CA415285461 | NSDHL | c.543G>C (p.Arg181Ser) c.591G>C (p.Arg197Ser) | |
X | g.152862724G>T | CA415285462 | NSDHL | c.543G>T (p.Arg181Ser) c.591G>T (p.Arg197Ser) | |
X | g.152862725G>A | CA415285469 | NSDHL | c.543+1G>A (n.543+1G>A) c.591+1G>A (n.591+1G>A) | COSMIC |
X | g.152862725G>C | CA415285467 | NSDHL | c.543+1G>C (n.543+1G>C) c.591+1G>C (n.591+1G>C) | |
X | g.152862725G>T | CA415285465 | NSDHL | c.543+1G>T (n.543+1G>T) c.591+1G>T (n.591+1G>T) | |
X | g.152862726T>A | CA415285471 | NSDHL | c.543+2T>A (n.543+2T>A) c.591+2T>A (n.591+2T>A) | |
X | g.152862726T>C | CA415285474 | NSDHL | c.543+2T>C (n.543+2T>C) c.591+2T>C (n.591+2T>C) | |
X | g.152862726T>G | CA415285473 | NSDHL | c.543+2T>G (n.543+2T>G) c.591+2T>G (n.591+2T>G) | |
X | g.152862727A>G | CA2824241885 | NSDHL | c.543+3A>G (n.543+3A>G) c.591+3A>G (n.591+3A>G) | |
X | g.152862728T>G | CA645215058 | NSDHL | c.543+4T>G (n.543+4T>G) c.591+4T>G (n.591+4T>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.152862728T= | CA2466152397 | NSDHL | c.543+4T= (n.543+4T=) c.591+4T= (n.591+4T=) | |
X | g.152862729G>T | CA645617034 | NSDHL | c.543+5G>T (n.543+5G>T) c.591+5G>T (n.591+5G>T) | COSMIC |
X | g.152862730T>A | CA2579725467 | NSDHL | c.543+6T>A (n.543+6T>A) c.591+6T>A (n.591+6T>A) | |
X | g.152862730T>C | CA2694983103 | NSDHL | c.543+6T>C (n.543+6T>C) c.591+6T>C (n.591+6T>C) | ClinVar gnomAD v4 |
X | g.152862731A= | CA2466152398 | NSDHL | c.543+7A= (n.543+7A=) c.591+7A= (n.591+7A=) | |
X | g.152862731A>G | CA2466152399 | NSDHL | c.543+7A>G (n.543+7A>G) c.591+7A>G (n.591+7A>G) | dbSNP gnomAD v4 |
X | g.152862732C= | CA2466152400 | NSDHL | c.543+8C= (n.543+8C=) c.591+8C= (n.591+8C=) | |
X | g.152862732C>T | CA10544778 | NSDHL | c.543+8C>T (n.543+8C>T) c.591+8C>T (n.591+8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152862734T>G | CA10544779 | NSDHL | c.543+10T>G (n.543+10T>G) c.591+10T>G (n.591+10T>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.152862734T= | CA2466152401 | NSDHL | c.543+10T= (n.543+10T=) c.591+10T= (n.591+10T=) | |
X | g.152862735T>G | CA2556366872 | NSDHL | c.543+11T>G (n.543+11T>G) c.591+11T>G (n.591+11T>G) | |
X | g.152862736G>A | CA2502123636 | NSDHL | c.543+12G>A (n.543+12G>A) c.591+12G>A (n.591+12G>A) | |
X | g.152862740C= | CA2466152402 | NSDHL | c.543+16C= (n.543+16C=) c.591+16C= (n.591+16C=) | |
X | g.152862740C>G | CA2694983104 | NSDHL | c.543+16C>G (n.543+16C>G) c.591+16C>G (n.591+16C>G) | gnomAD v4 |
X | g.152862740C>T | CA10544780 | NSDHL | c.543+16C>T (n.543+16C>T) c.591+16C>T (n.591+16C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152862741T>C | CA2466152404 | NSDHL | c.543+17T>C (n.543+17T>C) c.591+17T>C (n.591+17T>C) | dbSNP |
X | g.152862741T= | CA2466152403 | NSDHL | c.543+17T= (n.543+17T=) c.591+17T= (n.591+17T=) | |
X | g.152862746G>T | CA2694983105 | NSDHL | c.543+22G>T (n.543+22G>T) c.591+22G>T (n.591+22G>T) | gnomAD v4 |
X | g.152862747A>G | CA2694983106 | NSDHL | c.543+23A>G (n.543+23A>G) c.591+23A>G (n.591+23A>G) | gnomAD v4 |
X | g.152862752G>A | CA2694983107 | NSDHL | c.543+28G>A (n.543+28G>A) c.591+28G>A (n.591+28G>A) | gnomAD v4 |
X | g.152862753C>T | CA2694983108 | NSDHL | c.543+29C>T (n.543+29C>T) c.591+29C>T (n.591+29C>T) | gnomAD v4 |
X | g.152862754A>G | CA2694983109 | NSDHL | c.543+30A>G (n.543+30A>G) c.591+30A>G (n.591+30A>G) | gnomAD v4 |
X | g.152862755G>A | CA2694983110 | NSDHL | c.543+31G>A (n.543+31G>A) c.591+31G>A (n.591+31G>A) | gnomAD v4 |
X | g.152862757C>A | CA2694983111 | NSDHL | c.543+33C>A (n.543+33C>A) c.591+33C>A (n.591+33C>A) | gnomAD v4 |
X | g.152862758T>A | CA2694983112 | NSDHL | c.543+34T>A (n.543+34T>A) c.591+34T>A (n.591+34T>A) | gnomAD v4 |
X | g.152862758T>G | CA2546530555 | NSDHL | c.543+34T>G (n.543+34T>G) c.591+34T>G (n.591+34T>G) | gnomAD v4 |
X | g.152862759G>A | CA10544781 | NSDHL | c.543+35G>A (n.543+35G>A) c.591+35G>A (n.591+35G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.152862759G= | CA2466152405 | NSDHL | c.543+35G= (n.543+35G=) c.591+35G= (n.591+35G=) | |
X | g.152862759G>T | CA2579725468 | NSDHL | c.543+35G>T (n.543+35G>T) c.591+35G>T (n.591+35G>T) | |
X | g.152862760A>T | CA2694983113 | NSDHL | c.543+36A>T (n.543+36A>T) c.591+36A>T (n.591+36A>T) | gnomAD v4 |
X | g.152862762G>A | CA873241622 | NSDHL | c.543+38G>A (n.543+38G>A) c.591+38G>A (n.591+38G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.152862762G= | CA2466152406 | NSDHL | c.543+38G= (n.543+38G=) c.591+38G= (n.591+38G=) | |
X | g.152862763G>A | CA873241624 | NSDHL | c.543+39G>A (n.543+39G>A) c.591+39G>A (n.591+39G>A) | dbSNP gnomAD v4 |
X | g.152862763G>C | CA2694983114 | NSDHL | c.543+39G>C (n.543+39G>C) c.591+39G>C (n.591+39G>C) | gnomAD v4 |
X | g.152862763G= | CA2466152407 | NSDHL | c.543+39G= (n.543+39G=) c.591+39G= (n.591+39G=) | |
X | g.152862767del | CA2579725469 | NSDHL | c.543+43del (n.543+43del) c.591+43del (n.591+43del) | |
X | g.152862768A= | CA2466152408 | NSDHL | c.543+44A= (n.543+44A=) c.591+44A= (n.591+44A=) | |
X | g.152862768A>G | CA645215062 | NSDHL | c.543+44A>G (n.543+44A>G) c.591+44A>G (n.591+44A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152862771A>G | CA2694983115 | NSDHL | c.543+47A>G (n.543+47A>G) c.591+47A>G (n.591+47A>G) | gnomAD v4 |
X | g.152862773C>A | CA2579725470 | NSDHL | c.543+49C>A (n.543+49C>A) c.591+49C>A (n.591+49C>A) | gnomAD v4 |
X | g.152862774C>A | CA2694983116 | NSDHL | c.543+50C>A (n.543+50C>A) c.591+50C>A (n.591+50C>A) | gnomAD v4 |
X | g.152862774C= | CA2466152409 | NSDHL | c.543+50C= (n.543+50C=) c.591+50C= (n.591+50C=) | |
X | g.152862774C>T | CA645215064 | NSDHL | c.543+50C>T (n.543+50C>T) c.591+50C>T (n.591+50C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152862775T>C | CA10544782 | NSDHL | c.543+51T>C (n.543+51T>C) c.591+51T>C (n.591+51T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152862775T= | CA2466152410 | NSDHL | c.543+51T= (n.543+51T=) c.591+51T= (n.591+51T=) | |
X | g.152862777del | CA2694983117 | NSDHL | c.543+53del (n.543+53del) c.591+53del (n.591+53del) | gnomAD v4 |
X | g.152862778G= | CA2466152411 | NSDHL | c.543+54G= (n.543+54G=) c.591+54G= (n.591+54G=) | |
X | g.152862778G>T | CA337612362 | NSDHL | c.543+54G>T (n.543+54G>T) c.591+54G>T (n.591+54G>T) | dbSNP |
X | g.152862780A>G | CA2694983118 | NSDHL | c.543+56A>G (n.543+56A>G) c.591+56A>G (n.591+56A>G) | gnomAD v4 |
X | g.152862781A= | CA2466152412 | NSDHL | c.543+57A= (n.543+57A=) c.591+57A= (n.591+57A=) | |
X | g.152862781A>G | CA1138498660 | NSDHL | c.543+57A>G (n.543+57A>G) c.591+57A>G (n.591+57A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.152862782A>G | CA2694983119 | NSDHL | c.543+58A>G (n.543+58A>G) c.591+58A>G (n.591+58A>G) | gnomAD v4 |
X | g.152862784T>A | CA2694983120 | NSDHL | c.543+60T>A (n.543+60T>A) c.591+60T>A (n.591+60T>A) | gnomAD v4 |
X | g.152862785G>A | CA2466152414 | NSDHL | c.543+61G>A (n.543+61G>A) c.591+61G>A (n.591+61G>A) | dbSNP |
X | g.152862785G= | CA2466152413 | NSDHL | c.543+61G= (n.543+61G=) c.591+61G= (n.591+61G=) | |
X | g.152862785G>T | CA2694983121 | NSDHL | c.543+61G>T (n.543+61G>T) c.591+61G>T (n.591+61G>T) | gnomAD v4 |