Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.99862303C>A | CA341331044 | AGL | c.340C>A (p.Arg114Ser) n.551C>A c.292C>A (p.Arg98Ser) c.289C>A (p.Arg97Ser) | |
1 | g.99862303C= | CA1183924336 | AGL | c.340C= (p.Arg114=) n.551C= c.292C= (p.Arg98=) c.289C= (p.Arg97=) | |
1 | g.99862303C>G | CA341331048 | AGL | c.340C>G (p.Arg114Gly) n.551C>G c.292C>G (p.Arg98Gly) c.289C>G (p.Arg97Gly) | |
1 | g.99862303C>T | CA966138 | AGL | c.340C>T (p.Arg114Cys) n.551C>T c.292C>T (p.Arg98Cys) c.289C>T (p.Arg97Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862304G>A | CA966139 | AGL | c.341G>A (p.Arg114His) n.552G>A c.293G>A (p.Arg98His) c.290G>A (p.Arg97His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862304G>C | CA966140 | AGL | c.341G>C (p.Arg114Pro) n.552G>C c.293G>C (p.Arg98Pro) c.290G>C (p.Arg97Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99862304G= | CA1142346406 | AGL | c.341G= (p.Arg114=) n.552G= c.293G= (p.Arg98=) c.290G= (p.Arg97=) | |
1 | g.99862304G>T | CA341331067 | AGL | c.341G>T (p.Arg114Leu) n.552G>T c.293G>T (p.Arg98Leu) c.290G>T (p.Arg97Leu) | |
1 | g.99862305T>A | CA419095442 | AGL | c.342T>A (p.Arg114=) n.553T>A c.294T>A (p.Arg98=) c.291T>A (p.Arg97=) | |
1 | g.99862305T>C | CA419095445 | AGL | c.342T>C (p.Arg114=) n.553T>C c.294T>C (p.Arg98=) c.291T>C (p.Arg97=) | |
1 | g.99862305T>G | CA419095448 | AGL | c.342T>G (p.Arg114=) n.553T>G c.294T>G (p.Arg98=) c.291T>G (p.Arg97=) | |
1 | g.99862306G>A | CA341331077 | AGL | c.343G>A (p.Val115Ile) n.554G>A c.295G>A (p.Val99Ile) c.292G>A (p.Val98Ile) | |
1 | g.99862306G>C | CA341331079 | AGL | c.343G>C (p.Val115Leu) n.554G>C c.295G>C (p.Val99Leu) c.292G>C (p.Val98Leu) | |
1 | g.99862306G>T | CA341331096 | AGL | c.343G>T (p.Val115Phe) n.554G>T c.295G>T (p.Val99Phe) c.292G>T (p.Val98Phe) | gnomAD v4 |
1 | g.99862306_99862332delinsGTTGGTGCTGATAATCATGTGCTACCC | CA1183924345 | AGL | c.343_369delinsGTTGGTGCTGATAATCATGTGCTACCC (p.Val115=) n.554_580delinsGTTGGTGCTGATAATCATGTGCTACCC c.295_321delinsGTTGGTGCTGATAATCATGTGCTACCC (p.Val99=) c.292_318delinsGTTGGTGCTGATAATCATGTGCTACCC (p.Val98=) | |
1 | g.99862307T>A | CA341331123 | AGL | c.344T>A (p.Val115Asp) n.555T>A c.296T>A (p.Val99Asp) c.293T>A (p.Val98Asp) | gnomAD v4 |
1 | g.99862307T>C | CA966141 | AGL | c.344T>C (p.Val115Ala) n.555T>C c.296T>C (p.Val99Ala) c.293T>C (p.Val98Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862307T>G | CA341331124 | AGL | c.344T>G (p.Val115Gly) n.555T>G c.296T>G (p.Val99Gly) c.293T>G (p.Val98Gly) | |
1 | g.99862307T= | CA1147339744 | AGL | c.344T= (p.Val115=) n.555T= c.296T= (p.Val99=) c.293T= (p.Val98=) | |
1 | g.99862311_99862336del | CA16040824 | AGL | c.348_373del (p.Ala117LeufsTer10) n.559_584del c.300_325del (p.Ala101LeufsTer10) c.297_322del (p.Ala100LeufsTer10) | ClinVar dbSNP |
1 | g.99862308T>A | CA419095480 | AGL | c.345T>A (p.Val115=) n.556T>A c.297T>A (p.Val99=) c.294T>A (p.Val98=) | |
1 | g.99862308T>C | CA419095474 | AGL | c.345T>C (p.Val115=) n.556T>C c.297T>C (p.Val99=) c.294T>C (p.Val98=) | |
1 | g.99862308T>G | CA419095479 | AGL | c.345T>G (p.Val115=) n.556T>G c.297T>G (p.Val99=) c.294T>G (p.Val98=) | |
1 | g.99862309G>A | CA341331129 | AGL | c.346G>A (p.Gly116Ser) n.557G>A c.298G>A (p.Gly100Ser) c.295G>A (p.Gly99Ser) | |
1 | g.99862309G>C | CA341331136 | AGL | c.346G>C (p.Gly116Arg) n.557G>C c.298G>C (p.Gly100Arg) c.295G>C (p.Gly99Arg) | dbSNP |
1 | g.99862309G>T | CA341331149 | AGL | c.346G>T (p.Gly116Cys) n.557G>T c.298G>T (p.Gly100Cys) c.295G>T (p.Gly99Cys) | |
1 | g.99862310G>A | CA966142 | AGL | c.347G>A (p.Gly116Asp) n.558G>A c.299G>A (p.Gly100Asp) c.296G>A (p.Gly99Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862310G>C | CA341331176 | AGL | c.347G>C (p.Gly116Ala) n.558G>C c.299G>C (p.Gly100Ala) c.296G>C (p.Gly99Ala) | gnomAD v4 |
1 | g.99862310G= | CA1183924356 | AGL | c.347G= (p.Gly116=) n.558G= c.299G= (p.Gly100=) c.296G= (p.Gly99=) | |
1 | g.99862310G>T | CA341331192 | AGL | c.347G>T (p.Gly116Val) n.558G>T c.299G>T (p.Gly100Val) c.296G>T (p.Gly99Val) | gnomAD v4 |
1 | g.99862311T>A | CA419095492 | AGL | c.348T>A (p.Gly116=) n.559T>A c.300T>A (p.Gly100=) c.297T>A (p.Gly99=) | |
1 | g.99862311T>C | CA419095500 | AGL | c.348T>C (p.Gly116=) n.559T>C c.300T>C (p.Gly100=) c.297T>C (p.Gly99=) | |
1 | g.99862311T>G | CA419095502 | AGL | c.348T>G (p.Gly116=) n.559T>G c.300T>G (p.Gly100=) c.297T>G (p.Gly99=) | |
1 | g.99862312G>A | CA341331197 | AGL | c.349G>A (p.Ala117Thr) n.560G>A c.301G>A (p.Ala101Thr) c.298G>A (p.Ala100Thr) | |
1 | g.99862312G>C | CA341331198 | AGL | c.349G>C (p.Ala117Pro) n.560G>C c.301G>C (p.Ala101Pro) c.298G>C (p.Ala100Pro) | |
1 | g.99862312G>T | CA341331199 | AGL | c.349G>T (p.Ala117Ser) n.560G>T c.301G>T (p.Ala101Ser) c.298G>T (p.Ala100Ser) | |
1 | g.99862313C>A | CA341331205 | AGL | c.350C>A (p.Ala117Asp) n.561C>A c.302C>A (p.Ala101Asp) c.299C>A (p.Ala100Asp) | COSMIC COSMIC |
1 | g.99862313C>G | CA341331211 | AGL | c.350C>G (p.Ala117Gly) n.561C>G c.302C>G (p.Ala101Gly) c.299C>G (p.Ala100Gly) | |
1 | g.99862313C>T | CA341331203 | AGL | c.350C>T (p.Ala117Val) n.561C>T c.302C>T (p.Ala101Val) c.299C>T (p.Ala100Val) | |
1 | g.99862314T>A | CA419095512 | AGL | c.351T>A (p.Ala117=) n.562T>A c.303T>A (p.Ala101=) c.300T>A (p.Ala100=) | |
1 | g.99862314T>C | CA419095513 | AGL | c.351T>C (p.Ala117=) n.562T>C c.303T>C (p.Ala101=) c.300T>C (p.Ala100=) | ClinVar |
1 | g.99862314T>G | CA419095516 | AGL | c.351T>G (p.Ala117=) n.562T>G c.303T>G (p.Ala101=) c.300T>G (p.Ala100=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862314T= | CA1183924360 | AGL | c.351T= (p.Ala117=) n.562T= c.303T= (p.Ala101=) c.300T= (p.Ala100=) | |
1 | g.99862315G>A | CA341331212 | AGL | c.352G>A (p.Asp118Asn) n.563G>A c.304G>A (p.Asp102Asn) c.301G>A (p.Asp101Asn) | gnomAD v4 |
1 | g.99862315G>C | CA341331215 | AGL | c.352G>C (p.Asp118His) n.563G>C c.304G>C (p.Asp102His) c.301G>C (p.Asp101His) | dbSNP gnomAD v2 |
1 | g.99862315G= | CA1183924364 | AGL | c.352G= (p.Asp118=) n.563G= c.304G= (p.Asp102=) c.301G= (p.Asp101=) | |
1 | g.99862315G>T | CA341331223 | AGL | c.352G>T (p.Asp118Tyr) n.563G>T c.304G>T (p.Asp102Tyr) c.301G>T (p.Asp101Tyr) | |
1 | g.99862316A>C | CA341331230 | AGL | c.353A>C (p.Asp118Ala) n.564A>C c.305A>C (p.Asp102Ala) c.302A>C (p.Asp101Ala) | |
1 | g.99862316A>G | CA341331242 | AGL | c.353A>G (p.Asp118Gly) n.564A>G c.305A>G (p.Asp102Gly) c.302A>G (p.Asp101Gly) | |
1 | g.99862316A>T | CA341331247 | AGL | c.353A>T (p.Asp118Val) n.564A>T c.305A>T (p.Asp102Val) c.302A>T (p.Asp101Val) | |
1 | g.99862317T>A | CA341331249 | AGL | c.354T>A (p.Asp118Glu) n.565T>A c.306T>A (p.Asp102Glu) c.303T>A (p.Asp101Glu) | |
1 | g.99862317T>C | CA419095535 | AGL | c.354T>C (p.Asp118=) n.565T>C c.306T>C (p.Asp102=) c.303T>C (p.Asp101=) | |
1 | g.99862317T>G | CA341331248 | AGL | c.354T>G (p.Asp118Glu) n.565T>G c.306T>G (p.Asp102Glu) c.303T>G (p.Asp101Glu) | |
1 | g.99862318A>C | CA341331253 | AGL | c.355A>C (p.Asn119His) n.566A>C c.307A>C (p.Asn103His) c.304A>C (p.Asn102His) | |
1 | g.99862318A>G | CA341331265 | AGL | c.355A>G (p.Asn119Asp) n.566A>G c.307A>G (p.Asn103Asp) c.304A>G (p.Asn102Asp) | |
1 | g.99862318A>T | CA341331271 | AGL | c.355A>T (p.Asn119Tyr) n.566A>T c.307A>T (p.Asn103Tyr) c.304A>T (p.Asn102Tyr) | |
1 | g.99862319A= | CA1183924370 | AGL | c.356A= (p.Asn119=) n.567A= c.308A= (p.Asn103=) c.305A= (p.Asn102=) | |
1 | g.99862319A>C | CA341331277 | AGL | c.356A>C (p.Asn119Thr) n.567A>C c.308A>C (p.Asn103Thr) c.305A>C (p.Asn102Thr) | |
1 | g.99862319A>G | CA341331282 | AGL | c.356A>G (p.Asn119Ser) n.567A>G c.308A>G (p.Asn103Ser) c.305A>G (p.Asn102Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.99862319A>T | CA341331292 | AGL | c.356A>T (p.Asn119Ile) n.567A>T c.308A>T (p.Asn103Ile) c.305A>T (p.Asn102Ile) | |
1 | g.99862320T>A | CA341331312 | AGL | c.357T>A (p.Asn119Lys) n.568T>A c.309T>A (p.Asn103Lys) c.306T>A (p.Asn102Lys) | |
1 | g.99862320T>C | CA966143 | AGL | c.357T>C (p.Asn119=) n.568T>C c.309T>C (p.Asn103=) c.306T>C (p.Asn102=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99862320T>G | CA341331337 | AGL | c.357T>G (p.Asn119Lys) n.568T>G c.309T>G (p.Asn103Lys) c.306T>G (p.Asn102Lys) | |
1 | g.99862320T= | CA1183924373 | AGL | c.357T= (p.Asn119=) n.568T= c.309T= (p.Asn103=) c.306T= (p.Asn102=) | |
1 | g.99862321C>A | CA341331351 | AGL | c.358C>A (p.His120Asn) n.569C>A c.310C>A (p.His104Asn) c.307C>A (p.His103Asn) | |
1 | g.99862321C= | CA1183924377 | AGL | c.358C= (p.His120=) n.569C= c.310C= (p.His104=) c.307C= (p.His103=) | |
1 | g.99862321C>G | CA341331366 | AGL | c.358C>G (p.His120Asp) n.569C>G c.310C>G (p.His104Asp) c.307C>G (p.His103Asp) | |
1 | g.99862321C>T | CA341331370 | AGL | c.358C>T (p.His120Tyr) n.569C>T c.310C>T (p.His104Tyr) c.307C>T (p.His103Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99862322A= | CA1183924379 | AGL | c.359A= (p.His120=) n.570A= c.311A= (p.His104=) c.308A= (p.His103=) | |
1 | g.99862322A>C | CA341331371 | AGL | c.359A>C (p.His120Pro) n.570A>C c.311A>C (p.His104Pro) c.308A>C (p.His103Pro) | |
1 | g.99862322A>G | CA966144 | AGL | c.359A>G (p.His120Arg) n.570A>G c.311A>G (p.His104Arg) c.308A>G (p.His103Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862322A>T | CA341331378 | AGL | c.359A>T (p.His120Leu) n.570A>T c.311A>T (p.His104Leu) c.308A>T (p.His103Leu) | |
1 | g.99862322_99862323del | CA2586967069 | AGL | c.359_360del (p.His120ArgfsTer15) n.570_571del c.311_312del (p.His104ArgfsTer15) c.308_309del (p.His103ArgfsTer15) | |
1 | g.99862323T>A | CA341331386 | AGL | c.360T>A (p.His120Gln) n.571T>A c.312T>A (p.His104Gln) c.309T>A (p.His103Gln) | |
1 | g.99862323T>C | CA966145 | AGL | c.360T>C (p.His120=) n.571T>C c.312T>C (p.His104=) c.309T>C (p.His103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99862323T>G | CA341331416 | AGL | c.360T>G (p.His120Gln) n.571T>G c.312T>G (p.His104Gln) c.309T>G (p.His103Gln) | |
1 | g.99862323T= | CA1183924382 | AGL | c.360T= (p.His120=) n.571T= c.312T= (p.His104=) c.309T= (p.His103=) | |
1 | g.99862324G>A | CA341331420 | AGL | c.361G>A (p.Val121Met) n.572G>A c.313G>A (p.Val105Met) c.310G>A (p.Val104Met) | |
1 | g.99862324G>C | CA341331422 | AGL | c.361G>C (p.Val121Leu) n.572G>C c.313G>C (p.Val105Leu) c.310G>C (p.Val104Leu) | |
1 | g.99862324G= | CA1183924386 | AGL | c.361G= (p.Val121=) n.572G= c.313G= (p.Val105=) c.310G= (p.Val104=) | |
1 | g.99862324G>T | CA966146 | AGL | c.361G>T (p.Val121Leu) n.572G>T c.313G>T (p.Val105Leu) c.310G>T (p.Val104Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99862325T>A | CA341331433 | AGL | c.362T>A (p.Val121Glu) n.573T>A c.314T>A (p.Val105Glu) c.311T>A (p.Val104Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99862325T>C | CA341331435 | AGL | c.362T>C (p.Val121Ala) n.573T>C c.314T>C (p.Val105Ala) c.311T>C (p.Val104Ala) | |
1 | g.99862325T>G | CA341331434 | AGL | c.362T>G (p.Val121Gly) n.573T>G c.314T>G (p.Val105Gly) c.311T>G (p.Val104Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99862325T= | CA1183924389 | AGL | c.362T= (p.Val121=) n.573T= c.314T= (p.Val105=) c.311T= (p.Val104=) | |
1 | g.99862326G>A | CA419095596 | AGL | c.363G>A (p.Val121=) n.574G>A c.315G>A (p.Val105=) c.312G>A (p.Val104=) | dbSNP |
1 | g.99862326G>C | CA419095598 | AGL | c.363G>C (p.Val121=) n.574G>C c.315G>C (p.Val105=) c.312G>C (p.Val104=) | |
1 | g.99862326G= | CA1183924392 | AGL | c.363G= (p.Val121=) n.574G= c.315G= (p.Val105=) c.312G= (p.Val104=) | |
1 | g.99862326G>T | CA419095600 | AGL | c.363G>T (p.Val121=) n.574G>T c.315G>T (p.Val105=) c.312G>T (p.Val104=) | |
1 | g.99862327C>A | CA341331436 | AGL | c.364C>A (p.Leu122Ile) n.575C>A c.316C>A (p.Leu106Ile) c.313C>A (p.Leu105Ile) | |
1 | g.99862327C>G | CA341331451 | AGL | c.364C>G (p.Leu122Val) n.575C>G c.316C>G (p.Leu106Val) c.313C>G (p.Leu105Val) | |
1 | g.99862327C>T | CA419095606 | AGL | c.364C>T (p.Leu122=) n.575C>T c.316C>T (p.Leu106=) c.313C>T (p.Leu105=) | |
1 | g.99862327_99862328dup | CA2586967070 | AGL | c.364_365dup (p.Pro123TyrfsTer12) n.575_576dup c.316_317dup (p.Pro107TyrfsTer12) c.313_314dup (p.Pro106TyrfsTer12) | |
1 | g.99862328T>A | CA341331455 | AGL | c.365T>A (p.Leu122Gln) n.576T>A c.317T>A (p.Leu106Gln) c.314T>A (p.Leu105Gln) | |
1 | g.99862328T>C | CA341331459 | AGL | c.365T>C (p.Leu122Pro) n.576T>C c.317T>C (p.Leu106Pro) c.314T>C (p.Leu105Pro) | ClinVar dbSNP |
1 | g.99862328T>G | CA341331457 | AGL | c.365T>G (p.Leu122Arg) n.576T>G c.317T>G (p.Leu106Arg) c.314T>G (p.Leu105Arg) | |
1 | g.99862328T= | CA1183924398 | AGL | c.365T= (p.Leu122=) n.576T= c.317T= (p.Leu106=) c.314T= (p.Leu105=) | |
1 | g.99862329A= | CA1183924401 | AGL | c.366A= (p.Leu122=) n.577A= c.318A= (p.Leu106=) c.315A= (p.Leu105=) | |
1 | g.99862329A>C | CA419095607 | AGL | c.366A>C (p.Leu122=) n.577A>C c.318A>C (p.Leu106=) c.315A>C (p.Leu105=) | |
1 | g.99862329A>G | CA419095608 | AGL | c.366A>G (p.Leu122=) n.577A>G c.318A>G (p.Leu106=) c.315A>G (p.Leu105=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99862329A>T | CA419095610 | AGL | c.366A>T (p.Leu122=) n.577A>T c.318A>T (p.Leu106=) c.315A>T (p.Leu105=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.99862330C>A | CA341331465 | AGL | c.367C>A (p.Pro123Thr) n.578C>A c.319C>A (p.Pro107Thr) c.316C>A (p.Pro106Thr) | |
1 | g.99862330C= | CA1143879974 | AGL | c.367C= (p.Pro123=) n.578C= c.319C= (p.Pro107=) c.316C= (p.Pro106=) | |
1 | g.99862330C>G | CA966147 | AGL | c.367C>G (p.Pro123Ala) n.578C>G c.319C>G (p.Pro107Ala) c.316C>G (p.Pro106Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862330C>T | CA341331490 | AGL | c.367C>T (p.Pro123Ser) n.578C>T c.319C>T (p.Pro107Ser) c.316C>T (p.Pro106Ser) | |
1 | g.99862331C>A | CA966149 | AGL | c.368C>A (p.Pro123His) n.579C>A c.320C>A (p.Pro107His) c.317C>A (p.Pro106His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862331C= | CA1141628639 | AGL | c.368C= (p.Pro123=) n.579C= c.320C= (p.Pro107=) c.317C= (p.Pro106=) | |
1 | g.99862331C>G | CA341331495 | AGL | c.368C>G (p.Pro123Arg) n.579C>G c.320C>G (p.Pro107Arg) c.317C>G (p.Pro106Arg) | dbSNP |
1 | g.99862331C>T | CA966148 | AGL | c.368C>T (p.Pro123Leu) n.579C>T c.320C>T (p.Pro107Leu) c.317C>T (p.Pro106Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862332C>A | CA419095618 | AGL | c.369C>A (p.Pro123=) n.580C>A c.321C>A (p.Pro107=) c.318C>A (p.Pro106=) | |
1 | g.99862332C>G | CA419095619 | AGL | c.369C>G (p.Pro123=) n.580C>G c.321C>G (p.Pro107=) c.318C>G (p.Pro106=) | |
1 | g.99862332C>T | CA419095620 | AGL | c.369C>T (p.Pro123=) n.580C>T c.321C>T (p.Pro107=) c.318C>T (p.Pro106=) | ClinVar |
1 | g.99862333T>A | CA341331500 | AGL | c.370T>A (p.Leu124Met) n.581T>A c.322T>A (p.Leu108Met) c.319T>A (p.Leu107Met) | |
1 | g.99862333T>C | CA419095621 | AGL | c.370T>C (p.Leu124=) n.581T>C c.322T>C (p.Leu108=) c.319T>C (p.Leu107=) | |
1 | g.99862333T>G | CA341331540 | AGL | c.370T>G (p.Leu124Val) n.581T>G c.322T>G (p.Leu108Val) c.319T>G (p.Leu107Val) | |
1 | g.99862334T>A | CA341331556 | AGL | c.371T>A (p.Leu124Ter) n.582T>A c.323T>A (p.Leu108Ter) c.320T>A (p.Leu107Ter) | dbSNP gnomAD v4 |
1 | g.99862334T>C | CA341331557 | AGL | c.371T>C (p.Leu124Ser) n.582T>C c.323T>C (p.Leu108Ser) c.320T>C (p.Leu107Ser) | |
1 | g.99862334T>G | CA341331558 | AGL | c.371T>G (p.Leu124Trp) n.582T>G c.323T>G (p.Leu108Trp) c.320T>G (p.Leu107Trp) | |
1 | g.99862335G>A | CA419095627 | AGL | c.372G>A (p.Leu124=) n.583G>A c.324G>A (p.Leu108=) c.321G>A (p.Leu107=) | ClinVar dbSNP gnomAD v4 |
1 | g.99862335G>C | CA341331563 | AGL | c.372G>C (p.Leu124Phe) n.583G>C c.324G>C (p.Leu108Phe) c.321G>C (p.Leu107Phe) | |
1 | g.99862335G= | CA1183924417 | AGL | c.372G= (p.Leu124=) n.583G= c.324G= (p.Leu108=) c.321G= (p.Leu107=) | |
1 | g.99862335G>T | CA341331560 | AGL | c.372G>T (p.Leu124Phe) n.583G>T c.324G>T (p.Leu108Phe) c.321G>T (p.Leu107Phe) | |
1 | g.99862336G>A | CA966150 | AGL | c.373G>A (p.Asp125Asn) n.584G>A c.325G>A (p.Asp109Asn) c.322G>A (p.Asp108Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99862336G>C | CA341331601 | AGL | c.373G>C (p.Asp125His) n.584G>C c.325G>C (p.Asp109His) c.322G>C (p.Asp108His) | |
1 | g.99862336G= | CA1183924419 | AGL | c.373G= (p.Asp125=) n.584G= c.325G= (p.Asp109=) c.322G= (p.Asp108=) | |
1 | g.99862336G>T | CA341331614 | AGL | c.373G>T (p.Asp125Tyr) n.584G>T c.325G>T (p.Asp109Tyr) c.322G>T (p.Asp108Tyr) | |
1 | g.99862337A>C | CA341331642 | AGL | c.374A>C (p.Asp125Ala) n.585A>C c.326A>C (p.Asp109Ala) c.323A>C (p.Asp108Ala) | |
1 | g.99862337A>G | CA341331651 | AGL | c.374A>G (p.Asp125Gly) n.585A>G c.326A>G (p.Asp109Gly) c.323A>G (p.Asp108Gly) | |
1 | g.99862337A>T | CA341331655 | AGL | c.374A>T (p.Asp125Val) n.585A>T c.326A>T (p.Asp109Val) c.323A>T (p.Asp108Val) | |
1 | g.99862338C>A | CA341331657 | AGL | c.375C>A (p.Asp125Glu) n.586C>A c.327C>A (p.Asp109Glu) c.324C>A (p.Asp108Glu) | |
1 | g.99862338C>G | CA341331658 | AGL | c.375C>G (p.Asp125Glu) n.586C>G c.327C>G (p.Asp109Glu) c.324C>G (p.Asp108Glu) | |
1 | g.99862338C>T | CA419095639 | AGL | c.375C>T (p.Asp125=) n.586C>T c.327C>T (p.Asp109=) c.324C>T (p.Asp108=) | |
1 | g.99862339T>A | CA341331663 | AGL | c.376T>A (p.Cys126Ser) n.587T>A c.328T>A (p.Cys110Ser) c.325T>A (p.Cys109Ser) | |
1 | g.99862339T>C | CA341331666 | AGL | c.376T>C (p.Cys126Arg) n.587T>C c.328T>C (p.Cys110Arg) c.325T>C (p.Cys109Arg) | |
1 | g.99862339T>G | CA341331676 | AGL | c.376T>G (p.Cys126Gly) n.587T>G c.328T>G (p.Cys110Gly) c.325T>G (p.Cys109Gly) | |
1 | g.99862342_99862343del | CA2646735360 | AGL | c.379_380del (p.Val127TyrfsTer8) n.590_591del c.331_332del (p.Val111TyrfsTer8) c.328_329del (p.Val110TyrfsTer8) | gnomAD v4 |
1 | g.99862340G>A | CA966151 | AGL | c.377G>A (p.Cys126Tyr) n.588G>A c.329G>A (p.Cys110Tyr) c.326G>A (p.Cys109Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862340G>C | CA341331702 | AGL | c.377G>C (p.Cys126Ser) n.588G>C c.329G>C (p.Cys110Ser) c.326G>C (p.Cys109Ser) | |
1 | g.99862340G= | CA1146800851 | AGL | c.377G= (p.Cys126=) n.588G= c.329G= (p.Cys110=) c.326G= (p.Cys109=) | |
1 | g.99862340G>T | CA341331696 | AGL | c.377G>T (p.Cys126Phe) n.588G>T c.329G>T (p.Cys110Phe) c.326G>T (p.Cys109Phe) | gnomAD v4 |
1 | g.99862341T>A | CA341331715 | AGL | c.378T>A (p.Cys126Ter) n.589T>A c.330T>A (p.Cys110Ter) c.327T>A (p.Cys109Ter) | ClinVar dbSNP |
1 | g.99862341T>C | CA419095657 | AGL | c.378T>C (p.Cys126=) n.589T>C c.330T>C (p.Cys110=) c.327T>C (p.Cys109=) | |
1 | g.99862341T>G | CA341331717 | AGL | c.378T>G (p.Cys126Trp) n.589T>G c.330T>G (p.Cys110Trp) c.327T>G (p.Cys109Trp) | |
1 | g.99862341T= | CA1183924426 | AGL | c.378T= (p.Cys126=) n.589T= c.330T= (p.Cys110=) c.327T= (p.Cys109=) | |
1 | g.99862342G>A | CA341331719 | AGL | c.379G>A (p.Val127Ile) n.590G>A c.331G>A (p.Val111Ile) c.328G>A (p.Val110Ile) | |
1 | g.99862342G>C | CA341331728 | AGL | c.379G>C (p.Val127Leu) n.590G>C c.331G>C (p.Val111Leu) c.328G>C (p.Val110Leu) | |
1 | g.99862342G>T | CA341331730 | AGL | c.379G>T (p.Val127Phe) n.590G>T c.331G>T (p.Val111Phe) c.328G>T (p.Val110Phe) | |
1 | g.99862342_99862345dup | CA2574444262 | AGL | c.379_382dup (p.Thr128SerfsTer9) n.590_593dup c.331_334dup (p.Thr112SerfsTer9) c.328_331dup (p.Thr111SerfsTer9) | |
1 | g.99862343T>A | CA341331750 | AGL | c.380T>A (p.Val127Asp) n.591T>A c.332T>A (p.Val111Asp) c.329T>A (p.Val110Asp) | |
1 | g.99862343T>C | CA341331748 | AGL | c.380T>C (p.Val127Ala) n.591T>C c.332T>C (p.Val111Ala) c.329T>C (p.Val110Ala) | |
1 | g.99862343T>G | CA341331746 | AGL | c.380T>G (p.Val127Gly) n.591T>G c.332T>G (p.Val111Gly) c.329T>G (p.Val110Gly) | |
1 | g.99862344T>A | CA419095674 | AGL | c.381T>A (p.Val127=) n.592T>A c.333T>A (p.Val111=) c.330T>A (p.Val110=) | |
1 | g.99862344T>C | CA419095683 | AGL | c.381T>C (p.Val127=) n.592T>C c.333T>C (p.Val111=) c.330T>C (p.Val110=) | |
1 | g.99862344T>G | CA419095676 | AGL | c.381T>G (p.Val127=) n.592T>G c.333T>G (p.Val111=) c.330T>G (p.Val110=) | |
1 | g.99862345A>C | CA341331754 | AGL | c.382A>C (p.Thr128Pro) n.593A>C c.334A>C (p.Thr112Pro) c.331A>C (p.Thr111Pro) | |
1 | g.99862345A>G | CA341331755 | AGL | c.382A>G (p.Thr128Ala) n.593A>G c.334A>G (p.Thr112Ala) c.331A>G (p.Thr111Ala) | |
1 | g.99862345A>T | CA341331756 | AGL | c.382A>T (p.Thr128Ser) n.593A>T c.334A>T (p.Thr112Ser) c.331A>T (p.Thr111Ser) | |
1 | g.99862345dup | CA2739272687 | AGL | c.382dup (p.Thr128AsnfsTer8) n.593dup c.334dup (p.Thr112AsnfsTer8) c.331dup (p.Thr111AsnfsTer8) | ClinVar |
1 | g.99862346C>A | CA341331757 | AGL | c.383C>A (p.Thr128Asn) n.594C>A c.335C>A (p.Thr112Asn) c.332C>A (p.Thr111Asn) | |
1 | g.99862346C>G | CA341331760 | AGL | c.383C>G (p.Thr128Ser) n.594C>G c.335C>G (p.Thr112Ser) c.332C>G (p.Thr111Ser) | |
1 | g.99862346C>T | CA341331766 | AGL | c.383C>T (p.Thr128Ile) n.594C>T c.335C>T (p.Thr112Ile) c.332C>T (p.Thr111Ile) | |
1 | g.99862347T>A | CA419095695 | AGL | c.384T>A (p.Thr128=) n.595T>A c.336T>A (p.Thr112=) c.333T>A (p.Thr111=) | |
1 | g.99862347T>C | CA419095698 | AGL | c.384T>C (p.Thr128=) n.595T>C c.336T>C (p.Thr112=) c.333T>C (p.Thr111=) | ClinVar dbSNP |
1 | g.99862347T>G | CA419095696 | AGL | c.384T>G (p.Thr128=) n.595T>G c.336T>G (p.Thr112=) c.333T>G (p.Thr111=) | |
1 | g.99862347T= | CA1183924433 | AGL | c.384T= (p.Thr128=) n.595T= c.336T= (p.Thr112=) c.333T= (p.Thr111=) | |
1 | g.99862348C>A | CA341331787 | AGL | c.385C>A (p.Leu129Ile) n.596C>A c.337C>A (p.Leu113Ile) c.334C>A (p.Leu112Ile) | |
1 | g.99862348C= | CA1149065661 | AGL | c.385C= (p.Leu129=) n.596C= c.337C= (p.Leu113=) c.334C= (p.Leu112=) | |
1 | g.99862348C>G | CA966152 | AGL | c.385C>G (p.Leu129Val) n.596C>G c.337C>G (p.Leu113Val) c.334C>G (p.Leu112Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862348C>T | CA27561383 | AGL | c.385C>T (p.Leu129Phe) n.596C>T c.337C>T (p.Leu113Phe) c.334C>T (p.Leu112Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862349T>A | CA341331799 | AGL | c.386T>A (p.Leu129His) n.597T>A c.338T>A (p.Leu113His) c.335T>A (p.Leu112His) | |
1 | g.99862349T>C | CA341331800 | AGL | c.386T>C (p.Leu129Pro) n.597T>C c.338T>C (p.Leu113Pro) c.335T>C (p.Leu112Pro) | |
1 | g.99862349T>G | CA341331801 | AGL | c.386T>G (p.Leu129Arg) n.597T>G c.338T>G (p.Leu113Arg) c.335T>G (p.Leu112Arg) | |
1 | g.99862350T>A | CA419095703 | AGL | c.387T>A (p.Leu129=) n.598T>A c.339T>A (p.Leu113=) c.336T>A (p.Leu112=) | |
1 | g.99862350T>C | CA419095706 | AGL | c.387T>C (p.Leu129=) n.598T>C c.339T>C (p.Leu113=) c.336T>C (p.Leu112=) | |
1 | g.99862350T>G | CA419095708 | AGL | c.387T>G (p.Leu129=) n.598T>G c.339T>G (p.Leu113=) c.336T>G (p.Leu112=) | |
1 | g.99862351C>A | CA341331811 | AGL | c.388C>A (p.Gln130Lys) n.599C>A c.340C>A (p.Gln114Lys) c.337C>A (p.Gln113Lys) | |
1 | g.99862351C= | CA1183924450 | AGL | c.388C= (p.Gln130=) n.599C= c.340C= (p.Gln114=) c.337C= (p.Gln113=) | |
1 | g.99862351C>G | CA341331820 | AGL | c.388C>G (p.Gln130Glu) n.599C>G c.340C>G (p.Gln114Glu) c.337C>G (p.Gln113Glu) | gnomAD v4 |
1 | g.99862351C>T | CA341331824 | AGL | c.388C>T (p.Gln130Ter) n.599C>T c.340C>T (p.Gln114Ter) c.337C>T (p.Gln113Ter) | ClinVar dbSNP gnomAD v2 |
1 | g.99862352A>C | CA341331862 | AGL | c.389A>C (p.Gln130Pro) n.600A>C c.341A>C (p.Gln114Pro) c.338A>C (p.Gln113Pro) | |
1 | g.99862352A>G | CA341331869 | AGL | c.389A>G (p.Gln130Arg) n.600A>G c.341A>G (p.Gln114Arg) c.338A>G (p.Gln113Arg) | |
1 | g.99862352A>T | CA341331879 | AGL | c.389A>T (p.Gln130Leu) n.600A>T c.341A>T (p.Gln114Leu) c.338A>T (p.Gln113Leu) | |
1 | g.99862353G>A | CA419095725 | AGL | c.390G>A (p.Gln130=) n.601G>A c.342G>A (p.Gln114=) c.339G>A (p.Gln113=) | |
1 | g.99862353G>C | CA341331881 | AGL | c.390G>C (p.Gln130His) n.601G>C c.342G>C (p.Gln114His) c.339G>C (p.Gln113His) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.99862353G= | CA1183924455 | AGL | c.390G= (p.Gln130=) n.601G= c.342G= (p.Gln114=) c.339G= (p.Gln113=) | |
1 | g.99862353G>T | CA341331883 | AGL | c.390G>T (p.Gln130His) n.601G>T c.342G>T (p.Gln114His) c.339G>T (p.Gln113His) | |
1 | g.99862354A>C | CA341331907 | AGL | c.391A>C (p.Thr131Pro) n.602A>C c.343A>C (p.Thr115Pro) c.340A>C (p.Thr114Pro) | |
1 | g.99862354A>G | CA341331891 | AGL | c.391A>G (p.Thr131Ala) n.602A>G c.343A>G (p.Thr115Ala) c.340A>G (p.Thr114Ala) | |
1 | g.99862354A>T | CA341331888 | AGL | c.391A>T (p.Thr131Ser) n.602A>T c.343A>T (p.Thr115Ser) c.340A>T (p.Thr114Ser) | |
1 | g.99862355C>A | CA341331920 | AGL | c.392C>A (p.Thr131Lys) n.603C>A c.344C>A (p.Thr115Lys) c.341C>A (p.Thr114Lys) | |
1 | g.99862355C>G | CA341331928 | AGL | c.392C>G (p.Thr131Arg) n.603C>G c.344C>G (p.Thr115Arg) c.341C>G (p.Thr114Arg) | |
1 | g.99862355C>T | CA341331924 | AGL | c.392C>T (p.Thr131Ile) n.603C>T c.344C>T (p.Thr115Ile) c.341C>T (p.Thr114Ile) | |
1 | g.99862356A= | CA1183924459 | AGL | c.393A= (p.Thr131=) n.604A= c.345A= (p.Thr115=) c.342A= (p.Thr114=) | |
1 | g.99862356A>C | CA419095751 | AGL | c.393A>C (p.Thr131=) n.604A>C c.345A>C (p.Thr115=) c.342A>C (p.Thr114=) | |
1 | g.99862356A>G | CA966153 | AGL | c.393A>G (p.Thr131=) n.604A>G c.345A>G (p.Thr115=) c.342A>G (p.Thr114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862356A>T | CA419095752 | AGL | c.393A>T (p.Thr131=) n.604A>T c.345A>T (p.Thr115=) c.342A>T (p.Thr114=) | |
1 | g.99862356_99862357delinsAT | CA1183924460 | AGL | c.393_394delinsAT (p.Thr131=) n.604_605delinsAT c.345_346delinsAT (p.Thr115=) c.342_343delinsAT (p.Thr114=) | |
1 | g.99862357T>A | CA341331933 | AGL | c.394T>A (p.Phe132Ile) n.605T>A c.346T>A (p.Phe116Ile) c.343T>A (p.Phe115Ile) | |
1 | g.99862357T>C | CA341331939 | AGL | c.394T>C (p.Phe132Leu) n.605T>C c.346T>C (p.Phe116Leu) c.343T>C (p.Phe115Leu) | |
1 | g.99862357T>G | CA341331948 | AGL | c.394T>G (p.Phe132Val) n.605T>G c.346T>G (p.Phe116Val) c.343T>G (p.Phe115Val) | |
1 | g.99862357_99862361delinsTTTTT | CA1148466845 | AGL | c.394_398delinsTTTTT (p.Phe132=) n.605_609delinsTTTTT c.346_350delinsTTTTT (p.Phe116=) c.343_347delinsTTTTT (p.Phe115=) | |
1 | g.99862361del | CA966154 | AGL | c.398del (p.Leu133Ter) n.609del c.350del (p.Leu117Ter) c.347del (p.Leu116Ter) | dbSNP ExAC |
1 | g.99862358T>A | CA341331969 | AGL | c.395T>A (p.Phe132Tyr) n.606T>A c.347T>A (p.Phe116Tyr) c.344T>A (p.Phe115Tyr) | gnomAD v4 |
1 | g.99862358T>C | CA341331972 | AGL | c.395T>C (p.Phe132Ser) n.606T>C c.347T>C (p.Phe116Ser) c.344T>C (p.Phe115Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99862358T>G | CA341331976 | AGL | c.395T>G (p.Phe132Cys) n.606T>G c.347T>G (p.Phe116Cys) c.344T>G (p.Phe115Cys) | |
1 | g.99862358T= | CA1183924463 | AGL | c.395T= (p.Phe132=) n.606T= c.347T= (p.Phe116=) c.344T= (p.Phe115=) | |
1 | g.99862359T>A | CA341331989 | AGL | c.396T>A (p.Phe132Leu) n.607T>A c.348T>A (p.Phe116Leu) c.345T>A (p.Phe115Leu) | |
1 | g.99862359T>C | CA419095762 | AGL | c.396T>C (p.Phe132=) n.607T>C c.348T>C (p.Phe116=) c.345T>C (p.Phe115=) | |
1 | g.99862359T>G | CA341331994 | AGL | c.396T>G (p.Phe132Leu) n.607T>G c.348T>G (p.Phe116Leu) c.345T>G (p.Phe115Leu) | |
1 | g.99862360T>A | CA341332000 | AGL | c.397T>A (p.Leu133Ile) n.608T>A c.349T>A (p.Leu117Ile) c.346T>A (p.Leu116Ile) | |
1 | g.99862360T>C | CA419095769 | AGL | c.397T>C (p.Leu133=) n.608T>C c.349T>C (p.Leu117=) c.346T>C (p.Leu116=) | |
1 | g.99862360T>G | CA341332023 | AGL | c.397T>G (p.Leu133Val) n.608T>G c.349T>G (p.Leu117Val) c.346T>G (p.Leu116Val) | |
1 | g.99862361T>A | CA341332053 | AGL | c.398T>A (p.Leu133Ter) n.609T>A c.350T>A (p.Leu117Ter) c.347T>A (p.Leu116Ter) | |
1 | g.99862361T>C | CA341332048 | AGL | c.398T>C (p.Leu133Ser) n.609T>C c.350T>C (p.Leu117Ser) c.347T>C (p.Leu116Ser) | |
1 | g.99862361T>G | CA341332027 | AGL | c.398T>G (p.Leu133Ter) n.609T>G c.350T>G (p.Leu117Ter) c.347T>G (p.Leu116Ter) | |
1 | g.99862362A>C | CA341332067 | AGL | c.399A>C (p.Leu133Phe) n.610A>C c.351A>C (p.Leu117Phe) c.348A>C (p.Leu116Phe) | |
1 | g.99862362A>G | CA419095790 | AGL | c.399A>G (p.Leu133=) n.610A>G c.351A>G (p.Leu117=) c.348A>G (p.Leu116=) | |
1 | g.99862362A>T | CA341332069 | AGL | c.399A>T (p.Leu133Phe) n.610A>T c.351A>T (p.Leu117Phe) c.348A>T (p.Leu116Phe) | |
1 | g.99862363G>A | CA341332070 | AGL | c.400G>A (p.Ala134Thr) n.611G>A c.352G>A (p.Ala118Thr) c.349G>A (p.Ala117Thr) | gnomAD v4 |
1 | g.99862363G>C | CA341332073 | AGL | c.400G>C (p.Ala134Pro) n.611G>C c.352G>C (p.Ala118Pro) c.349G>C (p.Ala117Pro) | |
1 | g.99862363G>T | CA341332075 | AGL | c.400G>T (p.Ala134Ser) n.611G>T c.352G>T (p.Ala118Ser) c.349G>T (p.Ala117Ser) | |
1 | g.99862364C>A | CA341332082 | AGL | c.401C>A (p.Ala134Asp) n.612C>A c.353C>A (p.Ala118Asp) c.350C>A (p.Ala117Asp) | |
1 | g.99862364C>G | CA341332083 | AGL | c.401C>G (p.Ala134Gly) n.612C>G c.353C>G (p.Ala118Gly) c.350C>G (p.Ala117Gly) | ClinVar |
1 | g.99862364C>T | CA341332084 | AGL | c.401C>T (p.Ala134Val) n.612C>T c.353C>T (p.Ala118Val) c.350C>T (p.Ala117Val) | |
1 | g.99862364_99862498delinsTATTACAT | CA2697552540 | AGL | c.401_460+75delinsTATTACAT n.612_671+75delinsTATTACAT c.353_412+75delinsTATTACAT c.350_409+75delinsTATTACAT | ClinVar |
1 | g.99862365T>A | CA419095803 | AGL | c.402T>A (p.Ala134=) n.613T>A c.354T>A (p.Ala118=) c.351T>A (p.Ala117=) | gnomAD v4 |
1 | g.99862365T>C | CA419095808 | AGL | c.402T>C (p.Ala134=) n.613T>C c.354T>C (p.Ala118=) c.351T>C (p.Ala117=) | ClinVar |
1 | g.99862365T>G | CA419095801 | AGL | c.402T>G (p.Ala134=) n.613T>G c.354T>G (p.Ala118=) c.351T>G (p.Ala117=) | |
1 | g.99862366A= | CA1183924465 | AGL | c.403A= (p.Lys135=) n.614A= c.355A= (p.Lys119=) c.352A= (p.Lys118=) | |
1 | g.99862366A>C | CA341332086 | AGL | c.403A>C (p.Lys135Gln) n.614A>C c.355A>C (p.Lys119Gln) c.352A>C (p.Lys118Gln) | |
1 | g.99862366A>G | CA966155 | AGL | c.403A>G (p.Lys135Glu) n.614A>G c.355A>G (p.Lys119Glu) c.352A>G (p.Lys118Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99862366A>T | CA341332093 | AGL | c.403A>T (p.Lys135Ter) n.614A>T c.355A>T (p.Lys119Ter) c.352A>T (p.Lys118Ter) | |
1 | g.99862367A= | CA1183924467 | AGL | c.404A= (p.Lys135=) n.615A= c.356A= (p.Lys119=) c.353A= (p.Lys118=) | |
1 | g.99862367A>C | CA341332126 | AGL | c.404A>C (p.Lys135Thr) n.615A>C c.356A>C (p.Lys119Thr) c.353A>C (p.Lys118Thr) | |
1 | g.99862367A>G | CA341332117 | AGL | c.404A>G (p.Lys135Arg) n.615A>G c.356A>G (p.Lys119Arg) c.353A>G (p.Lys118Arg) | dbSNP gnomAD v4 |
1 | g.99862367A>T | CA341332105 | AGL | c.404A>T (p.Lys135Met) n.615A>T c.356A>T (p.Lys119Met) c.353A>T (p.Lys118Met) | |
1 | g.99862368G>A | CA419095818 | AGL | c.405G>A (p.Lys135=) n.616G>A c.357G>A (p.Lys119=) c.354G>A (p.Lys118=) | dbSNP |
1 | g.99862368G>C | CA341332135 | AGL | c.405G>C (p.Lys135Asn) n.616G>C c.357G>C (p.Lys119Asn) c.354G>C (p.Lys118Asn) | ClinVar dbSNP gnomAD v4 |
1 | g.99862368G= | CA1183924472 | AGL | c.405G= (p.Lys135=) n.616G= c.357G= (p.Lys119=) c.354G= (p.Lys118=) | |
1 | g.99862368G>T | CA341332137 | AGL | c.405G>T (p.Lys135Asn) n.616G>T c.357G>T (p.Lys119Asn) c.354G>T (p.Lys118Asn) | |
1 | g.99862368_99862372delinsGTGTT | CA1183924471 | AGL | c.405_409delinsGTGTT (p.Lys135=) n.616_620delinsGTGTT c.357_361delinsGTGTT (p.Lys119=) c.354_358delinsGTGTT (p.Lys118=) | |
1 | g.99862369T>A | CA341332138 | AGL | c.406T>A (p.Cys136Ser) n.617T>A c.358T>A (p.Cys120Ser) c.355T>A (p.Cys119Ser) | |
1 | g.99862369T>C | CA27561399 | AGL | c.406T>C (p.Cys136Arg) n.617T>C c.358T>C (p.Cys120Arg) c.355T>C (p.Cys119Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99862369T>G | CA341332150 | AGL | c.406T>G (p.Cys136Gly) n.617T>G c.358T>G (p.Cys120Gly) c.355T>G (p.Cys119Gly) | |
1 | g.99862369T= | CA1144143767 | AGL | c.406T= (p.Cys136=) n.617T= c.358T= (p.Cys120=) c.355T= (p.Cys119=) | |
1 | g.99862371_99862374del | CA966156 | AGL | c.408_411del (p.Cys136TrpfsTer21) n.619_622del c.360_363del (p.Cys120TrpfsTer21) c.357_360del (p.Cys119TrpfsTer21) | dbSNP ExAC gnomAD v2 |
1 | g.99862370G>A | CA341332174 | AGL | c.407G>A (p.Cys136Tyr) n.618G>A c.359G>A (p.Cys120Tyr) c.356G>A (p.Cys119Tyr) | dbSNP |
1 | g.99862370G>C | CA341332175 | AGL | c.407G>C (p.Cys136Ser) n.618G>C c.359G>C (p.Cys120Ser) c.356G>C (p.Cys119Ser) | |
1 | g.99862370G= | CA1183924479 | AGL | c.407G= (p.Cys136=) n.618G= c.359G= (p.Cys120=) c.356G= (p.Cys119=) | |
1 | g.99862370G>T | CA341332176 | AGL | c.407G>T (p.Cys136Phe) n.618G>T c.359G>T (p.Cys120Phe) c.356G>T (p.Cys119Phe) | |
1 | g.99862371T>A | CA341332177 | AGL | c.408T>A (p.Cys136Ter) n.619T>A c.360T>A (p.Cys120Ter) c.357T>A (p.Cys119Ter) | ClinVar |
1 | g.99862371T>C | CA419095827 | AGL | c.408T>C (p.Cys136=) n.619T>C c.360T>C (p.Cys120=) c.357T>C (p.Cys119=) | |
1 | g.99862371T>G | CA341332181 | AGL | c.408T>G (p.Cys136Trp) n.619T>G c.360T>G (p.Cys120Trp) c.357T>G (p.Cys119Trp) | |
1 | g.99862372T>A | CA341332195 | AGL | c.409T>A (p.Leu137Met) n.620T>A c.361T>A (p.Leu121Met) c.358T>A (p.Leu120Met) | |
1 | g.99862372T>C | CA419095829 | AGL | c.409T>C (p.Leu137=) n.620T>C c.361T>C (p.Leu121=) c.358T>C (p.Leu120=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99862372T>G | CA341332200 | AGL | c.409T>G (p.Leu137Val) n.620T>G c.361T>G (p.Leu121Val) c.358T>G (p.Leu120Val) | |
1 | g.99862372T= | CA1183924482 | AGL | c.409T= (p.Leu137=) n.620T= c.361T= (p.Leu121=) c.358T= (p.Leu120=) | |
1 | g.99862373T>A | CA341332208 | AGL | c.410T>A (p.Leu137Ter) n.621T>A c.362T>A (p.Leu121Ter) c.359T>A (p.Leu120Ter) | |
1 | g.99862373T>C | CA341332206 | AGL | c.410T>C (p.Leu137Ser) n.621T>C c.362T>C (p.Leu121Ser) c.359T>C (p.Leu120Ser) | |
1 | g.99862373T>G | CA341332207 | AGL | c.410T>G (p.Leu137Trp) n.621T>G c.362T>G (p.Leu121Trp) c.359T>G (p.Leu120Trp) | |
1 | g.99862373_99862376del | CA419095831 | AGL | c.410_413del (p.Leu137TyrfsTer20) n.621_624del c.362_365del (p.Leu121TyrfsTer20) c.359_362del (p.Leu120TyrfsTer20) | ClinVar dbSNP gnomAD v4 |
1 | g.99862374G>A | CA966157 | AGL | c.411G>A (p.Leu137=) n.622G>A c.363G>A (p.Leu121=) c.360G>A (p.Leu120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99862374G>C | CA341332211 | AGL | c.411G>C (p.Leu137Phe) n.622G>C c.363G>C (p.Leu121Phe) c.360G>C (p.Leu120Phe) | dbSNP |
1 | g.99862374G= | CA1183924485 | AGL | c.411G= (p.Leu137=) n.622G= c.363G= (p.Leu121=) c.360G= (p.Leu120=) | |
1 | g.99862374G>T | CA341332238 | AGL | c.411G>T (p.Leu137Phe) n.622G>T c.363G>T (p.Leu121Phe) c.360G>T (p.Leu120Phe) | |
1 | g.99862375G>A | CA966158 | AGL | c.412G>A (p.Gly138Arg) n.623G>A c.364G>A (p.Gly122Arg) c.361G>A (p.Gly121Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99862375G>C | CA341332261 | AGL | c.412G>C (p.Gly138Arg) n.623G>C c.364G>C (p.Gly122Arg) c.361G>C (p.Gly121Arg) | |
1 | g.99862375G= | CA1148432147 | AGL | c.412G= (p.Gly138=) n.623G= c.364G= (p.Gly122=) c.361G= (p.Gly121=) | |
1 | g.99862375G>T | CA341332273 | AGL | c.412G>T (p.Gly138Ter) n.623G>T c.364G>T (p.Gly122Ter) c.361G>T (p.Gly121Ter) | |
1 | g.99862376G>A | CA27561409 | AGL | c.413G>A (p.Gly138Glu) n.624G>A c.365G>A (p.Gly122Glu) c.362G>A (p.Gly121Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99862376G>C | CA341332288 | AGL | c.413G>C (p.Gly138Ala) n.624G>C c.365G>C (p.Gly122Ala) c.362G>C (p.Gly121Ala) | |
1 | g.99862376G= | CA1183924492 | AGL | c.413G= (p.Gly138=) n.624G= c.365G= (p.Gly122=) c.362G= (p.Gly121=) | |
1 | g.99862376G>T | CA341332290 | AGL | c.413G>T (p.Gly138Val) n.624G>T c.365G>T (p.Gly122Val) c.362G>T (p.Gly121Val) | |
1 | g.99862377A>C | CA419095839 | AGL | c.414A>C (p.Gly138=) n.625A>C c.366A>C (p.Gly122=) c.363A>C (p.Gly121=) | |
1 | g.99862377A>G | CA419095840 | AGL | c.414A>G (p.Gly138=) n.625A>G c.366A>G (p.Gly122=) c.363A>G (p.Gly121=) | ClinVar |
1 | g.99862377A>T | CA419095841 | AGL | c.414A>T (p.Gly138=) n.625A>T c.366A>T (p.Gly122=) c.363A>T (p.Gly121=) | gnomAD v4 |
1 | g.99862378C>A | CA341332298 | AGL | c.415C>A (p.Pro139Thr) n.626C>A c.367C>A (p.Pro123Thr) c.364C>A (p.Pro122Thr) | |
1 | g.99862378C>G | CA341332301 | AGL | c.415C>G (p.Pro139Ala) n.626C>G c.367C>G (p.Pro123Ala) c.364C>G (p.Pro122Ala) | |
1 | g.99862378C>T | CA341332310 | AGL | c.415C>T (p.Pro139Ser) n.626C>T c.367C>T (p.Pro123Ser) c.364C>T (p.Pro122Ser) | |
1 | g.99862379C>A | CA341332332 | AGL | c.416C>A (p.Pro139His) n.627C>A c.368C>A (p.Pro123His) c.365C>A (p.Pro122His) | |
1 | g.99862379C>G | CA341332339 | AGL | c.416C>G (p.Pro139Arg) n.627C>G c.368C>G (p.Pro123Arg) c.365C>G (p.Pro122Arg) | |
1 | g.99862379C>T | CA341332321 | AGL | c.416C>T (p.Pro139Leu) n.627C>T c.368C>T (p.Pro123Leu) c.365C>T (p.Pro122Leu) | COSMIC |
1 | g.99862379_99862380delinsCT | CA1183924493 | AGL | c.416_417delinsCT (p.Pro139=) n.627_628delinsCT c.368_369delinsCT (p.Pro123=) c.365_366delinsCT (p.Pro122=) | |
1 | g.99862380T>A | CA419095846 | AGL | c.417T>A (p.Pro139=) n.628T>A c.369T>A (p.Pro123=) c.366T>A (p.Pro122=) | |
1 | g.99862380T>C | CA419095845 | AGL | c.417T>C (p.Pro139=) n.628T>C c.369T>C (p.Pro123=) c.366T>C (p.Pro122=) | |
1 | g.99862380T>G | CA419095844 | AGL | c.417T>G (p.Pro139=) n.628T>G c.369T>G (p.Pro123=) c.366T>G (p.Pro122=) | |
1 | g.99862383del | CA524878373 | AGL | c.420del (p.Phe140LeufsTer18) n.631del c.372del (p.Phe124LeufsTer18) c.369del (p.Phe123LeufsTer18) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.99862381T>A | CA341332354 | AGL | c.418T>A (p.Phe140Ile) n.629T>A c.370T>A (p.Phe124Ile) c.367T>A (p.Phe123Ile) | |
1 | g.99862381T>C | CA341332347 | AGL | c.418T>C (p.Phe140Leu) n.629T>C c.370T>C (p.Phe124Leu) c.367T>C (p.Phe123Leu) | |
1 | g.99862381T>G | CA341332359 | AGL | c.418T>G (p.Phe140Val) n.629T>G c.370T>G (p.Phe124Val) c.367T>G (p.Phe123Val) | |
1 | g.99862382T>A | CA341332362 | AGL | c.419T>A (p.Phe140Tyr) n.630T>A c.371T>A (p.Phe124Tyr) c.368T>A (p.Phe123Tyr) | |
1 | g.99862382T>C | CA341332365 | AGL | c.419T>C (p.Phe140Ser) n.630T>C c.371T>C (p.Phe124Ser) c.368T>C (p.Phe123Ser) | |
1 | g.99862382T>G | CA341332366 | AGL | c.419T>G (p.Phe140Cys) n.630T>G c.371T>G (p.Phe124Cys) c.368T>G (p.Phe123Cys) | |
1 | g.99862382_99862385delinsTTGA | CA1183924502 | AGL | c.419_422delinsTTGA (p.Phe140=) n.630_633delinsTTGA c.371_374delinsTTGA (p.Phe124=) c.368_371delinsTTGA (p.Phe123=) | |
1 | g.99862383_99862386del | CA913046862 | AGL | c.420_423del (p.Phe140LeufsTer17) n.631_634del c.372_375del (p.Phe124LeufsTer17) c.369_372del (p.Phe123LeufsTer17) | |
1 | g.99862383T>A | CA341332369 | AGL | c.420T>A (p.Phe140Leu) n.631T>A c.372T>A (p.Phe124Leu) c.369T>A (p.Phe123Leu) | |
1 | g.99862383T>C | CA419095848 | AGL | c.420T>C (p.Phe140=) n.631T>C c.372T>C (p.Phe124=) c.369T>C (p.Phe123=) | |
1 | g.99862383T>G | CA341332375 | AGL | c.420T>G (p.Phe140Leu) n.631T>G c.372T>G (p.Phe124Leu) c.369T>G (p.Phe123Leu) | |
1 | g.99862386_99862388del | CA524878374 | AGL | c.423_425del (p.Asp141del) n.634_636del c.375_377del (p.Asp125del) c.372_374del (p.Asp124del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862384G>A | CA341332385 | AGL | c.421G>A (p.Asp141Asn) n.632G>A c.373G>A (p.Asp125Asn) c.370G>A (p.Asp124Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99862384G>C | CA341332391 | AGL | c.421G>C (p.Asp141His) n.632G>C c.373G>C (p.Asp125His) c.370G>C (p.Asp124His) | |
1 | g.99862384G= | CA1183924509 | AGL | c.421G= (p.Asp141=) n.632G= c.373G= (p.Asp125=) c.370G= (p.Asp124=) | |
1 | g.99862384G>T | CA341332403 | AGL | c.421G>T (p.Asp141Tyr) n.632G>T c.373G>T (p.Asp125Tyr) c.370G>T (p.Asp124Tyr) | gnomAD v4 |
1 | g.99862385A= | CA1183924512 | AGL | c.422A= (p.Asp141=) n.633A= c.374A= (p.Asp125=) c.371A= (p.Asp124=) | |
1 | g.99862385A>C | CA341332409 | AGL | c.422A>C (p.Asp141Ala) n.633A>C c.374A>C (p.Asp125Ala) c.371A>C (p.Asp124Ala) | gnomAD v4 |
1 | g.99862385A>G | CA966159 | AGL | c.422A>G (p.Asp141Gly) n.633A>G c.374A>G (p.Asp125Gly) c.371A>G (p.Asp124Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99862385A>T | CA341332414 | AGL | c.422A>T (p.Asp141Val) n.633A>T c.374A>T (p.Asp125Val) c.371A>T (p.Asp124Val) | |
1 | g.99862386T>A | CA341332418 | AGL | c.423T>A (p.Asp141Glu) n.634T>A c.375T>A (p.Asp125Glu) c.372T>A (p.Asp124Glu) | |
1 | g.99862386T>C | CA419095858 | AGL | c.423T>C (p.Asp141=) n.634T>C c.375T>C (p.Asp125=) c.372T>C (p.Asp124=) | |
1 | g.99862386T>G | CA341332425 | AGL | c.423T>G (p.Asp141Glu) n.634T>G c.375T>G (p.Asp125Glu) c.372T>G (p.Asp124Glu) | |
1 | g.99862387G>A | CA341332427 | AGL | c.424G>A (p.Glu142Lys) n.635G>A c.376G>A (p.Glu126Lys) c.373G>A (p.Glu125Lys) | |
1 | g.99862387G>C | CA341332432 | AGL | c.424G>C (p.Glu142Gln) n.635G>C c.376G>C (p.Glu126Gln) c.373G>C (p.Glu125Gln) | |
1 | g.99862387G>T | CA341332428 | AGL | c.424G>T (p.Glu142Ter) n.635G>T c.376G>T (p.Glu126Ter) c.373G>T (p.Glu125Ter) | |
1 | g.99862388A>C | CA341332445 | AGL | c.425A>C (p.Glu142Ala) n.636A>C c.377A>C (p.Glu126Ala) c.374A>C (p.Glu125Ala) | |
1 | g.99862388A>G | CA341332447 | AGL | c.425A>G (p.Glu142Gly) n.636A>G c.377A>G (p.Glu126Gly) c.374A>G (p.Glu125Gly) | |
1 | g.99862388A>T | CA341332462 | AGL | c.425A>T (p.Glu142Val) n.636A>T c.377A>T (p.Glu126Val) c.374A>T (p.Glu125Val) | |
1 | g.99862389A>C | CA341332468 | AGL | c.426A>C (p.Glu142Asp) n.637A>C c.378A>C (p.Glu126Asp) c.375A>C (p.Glu125Asp) | |
1 | g.99862389A>G | CA419095866 | AGL | c.426A>G (p.Glu142=) n.637A>G c.378A>G (p.Glu126=) c.375A>G (p.Glu125=) | |
1 | g.99862389A>T | CA341332471 | AGL | c.426A>T (p.Glu142Asp) n.637A>T c.378A>T (p.Glu126Asp) c.375A>T (p.Glu125Asp) | |
1 | g.99862390T>A | CA341332482 | AGL | c.427T>A (p.Trp143Arg) n.638T>A c.379T>A (p.Trp127Arg) c.376T>A (p.Trp126Arg) | |
1 | g.99862390T>C | CA341332483 | AGL | c.427T>C (p.Trp143Arg) n.638T>C c.379T>C (p.Trp127Arg) c.376T>C (p.Trp126Arg) | |
1 | g.99862390T>G | CA341332484 | AGL | c.427T>G (p.Trp143Gly) n.638T>G c.379T>G (p.Trp127Gly) c.376T>G (p.Trp126Gly) | |
1 | g.99862391G>A | CA10575460 | AGL | c.428G>A (p.Trp143Ter) n.639G>A c.380G>A (p.Trp127Ter) c.377G>A (p.Trp126Ter) | |
1 | g.99862391G>C | CA341332487 | AGL | c.428G>C (p.Trp143Ser) n.639G>C c.380G>C (p.Trp127Ser) c.377G>C (p.Trp126Ser) | |
1 | g.99862391G= | CA1183924516 | AGL | c.428G= (p.Trp143=) n.639G= c.380G= (p.Trp127=) c.377G= (p.Trp126=) | |
1 | g.99862391G>T | CA966160 | AGL | c.428G>T (p.Trp143Leu) n.639G>T c.380G>T (p.Trp127Leu) c.377G>T (p.Trp126Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99862392G>A | CA341332508 | AGL | c.429G>A (p.Trp143Ter) n.640G>A c.381G>A (p.Trp127Ter) c.378G>A (p.Trp126Ter) | |
1 | g.99862392G>C | CA341332504 | AGL | c.429G>C (p.Trp143Cys) n.640G>C c.381G>C (p.Trp127Cys) c.378G>C (p.Trp126Cys) | |
1 | g.99862392G>T | CA341332498 | AGL | c.429G>T (p.Trp143Cys) n.640G>T c.381G>T (p.Trp127Cys) c.378G>T (p.Trp126Cys) | |
1 | g.99862393G>A | CA341332528 | AGL | c.430G>A (p.Glu144Lys) n.641G>A c.382G>A (p.Glu128Lys) c.379G>A (p.Glu127Lys) | dbSNP |
1 | g.99862393G>C | CA341332513 | AGL | c.430G>C (p.Glu144Gln) n.641G>C c.382G>C (p.Glu128Gln) c.379G>C (p.Glu127Gln) | |
1 | g.99862393G= | CA1183924519 | AGL | c.430G= (p.Glu144=) n.641G= c.382G= (p.Glu128=) c.379G= (p.Glu127=) | |
1 | g.99862393G>T | CA341332518 | AGL | c.430G>T (p.Glu144Ter) n.641G>T c.382G>T (p.Glu128Ter) c.379G>T (p.Glu127Ter) | |
1 | g.99862394A>C | CA341332533 | AGL | c.431A>C (p.Glu144Ala) n.642A>C c.383A>C (p.Glu128Ala) c.380A>C (p.Glu127Ala) | gnomAD v4 |
1 | g.99862394A>G | CA341332534 | AGL | c.431A>G (p.Glu144Gly) n.642A>G c.383A>G (p.Glu128Gly) c.380A>G (p.Glu127Gly) | |
1 | g.99862394A>T | CA341332535 | AGL | c.431A>T (p.Glu144Val) n.642A>T c.383A>T (p.Glu128Val) c.380A>T (p.Glu127Val) | |
1 | g.99862395A>C | CA341332549 | AGL | c.432A>C (p.Glu144Asp) n.643A>C c.384A>C (p.Glu128Asp) c.381A>C (p.Glu127Asp) | gnomAD v4 |
1 | g.99862395A>G | CA419095872 | AGL | c.432A>G (p.Glu144=) n.643A>G c.384A>G (p.Glu128=) c.381A>G (p.Glu127=) | |
1 | g.99862395A>T | CA341332559 | AGL | c.432A>T (p.Glu144Asp) n.643A>T c.384A>T (p.Glu128Asp) c.381A>T (p.Glu127Asp) | |
1 | g.99862396A>C | CA341332572 | AGL | c.433A>C (p.Ser145Arg) n.644A>C c.385A>C (p.Ser129Arg) c.382A>C (p.Ser128Arg) | |
1 | g.99862396A>G | CA341332576 | AGL | c.433A>G (p.Ser145Gly) n.644A>G c.385A>G (p.Ser129Gly) c.382A>G (p.Ser128Gly) | |
1 | g.99862396A>T | CA341332577 | AGL | c.433A>T (p.Ser145Cys) n.644A>T c.385A>T (p.Ser129Cys) c.382A>T (p.Ser128Cys) | |
1 | g.99862397G>A | CA341332591 | AGL | c.434G>A (p.Ser145Asn) n.645G>A c.386G>A (p.Ser129Asn) c.383G>A (p.Ser128Asn) | |
1 | g.99862397G>C | CA341332601 | AGL | c.434G>C (p.Ser145Thr) n.645G>C c.386G>C (p.Ser129Thr) c.383G>C (p.Ser128Thr) | |
1 | g.99862397G>T | CA341332604 | AGL | c.434G>T (p.Ser145Ile) n.645G>T c.386G>T (p.Ser129Ile) c.383G>T (p.Ser128Ile) | |
1 | g.99862398C>A | CA341332619 | AGL | c.435C>A (p.Ser145Arg) n.646C>A c.387C>A (p.Ser129Arg) c.384C>A (p.Ser128Arg) | |
1 | g.99862398C= | CA1183924522 | AGL | c.435C= (p.Ser145=) n.646C= c.387C= (p.Ser129=) c.384C= (p.Ser128=) | |
1 | g.99862398C>G | CA341332613 | AGL | c.435C>G (p.Ser145Arg) n.646C>G c.387C>G (p.Ser129Arg) c.384C>G (p.Ser128Arg) | |
1 | g.99862398C>T | CA419095873 | AGL | c.435C>T (p.Ser145=) n.646C>T c.387C>T (p.Ser129=) c.384C>T (p.Ser128=) | |
1 | g.99862399A>C | CA419095874 | AGL | c.436A>C (p.Arg146=) n.647A>C c.388A>C (p.Arg130=) c.385A>C (p.Arg129=) | |
1 | g.99862399A>G | CA341332625 | AGL | c.436A>G (p.Arg146Gly) n.647A>G c.388A>G (p.Arg130Gly) c.385A>G (p.Arg129Gly) | |
1 | g.99862399A>T | CA341332626 | AGL | c.436A>T (p.Arg146Ter) n.647A>T c.388A>T (p.Arg130Ter) c.385A>T (p.Arg129Ter) | |
1 | g.99862399dup | CA1183924523 | AGL | c.436dup (p.Arg146LysfsTer3) n.647dup c.388dup (p.Arg130LysfsTer3) c.385dup (p.Arg129LysfsTer3) | ClinVar dbSNP |
1 | g.99862399_99862400delinsAG | CA1183924524 | AGL | c.436_437delinsAG (p.Arg146=) n.647_648delinsAG c.388_389delinsAG (p.Arg130=) c.385_386delinsAG (p.Arg129=) | |
1 | g.99862400del | CA16040825 | AGL | c.437del (p.Arg146AsnfsTer12) n.648del c.389del (p.Arg130AsnfsTer12) c.386del (p.Arg129AsnfsTer12) | ClinVar dbSNP |
1 | g.99862400G>A | CA341332628 | AGL | c.437G>A (p.Arg146Lys) n.648G>A c.389G>A (p.Arg130Lys) c.386G>A (p.Arg129Lys) | |
1 | g.99862400G>C | CA341332632 | AGL | c.437G>C (p.Arg146Thr) n.648G>C c.389G>C (p.Arg130Thr) c.386G>C (p.Arg129Thr) | |
1 | g.99862400G>T | CA341332657 | AGL | c.437G>T (p.Arg146Ile) n.648G>T c.389G>T (p.Arg130Ile) c.386G>T (p.Arg129Ile) | ClinVar |
1 | g.99862401A= | CA1183924530 | AGL | c.438A= (p.Arg146=) n.649A= c.390A= (p.Arg130=) c.387A= (p.Arg129=) | |
1 | g.99862401A>C | CA341332679 | AGL | c.438A>C (p.Arg146Ser) n.649A>C c.390A>C (p.Arg130Ser) c.387A>C (p.Arg129Ser) | |
1 | g.99862401A>G | CA419095875 | AGL | c.438A>G (p.Arg146=) n.649A>G c.390A>G (p.Arg130=) c.387A>G (p.Arg129=) | |
1 | g.99862401A>T | CA341332681 | AGL | c.438A>T (p.Arg146Ser) n.649A>T c.390A>T (p.Arg130Ser) c.387A>T (p.Arg129Ser) | dbSNP |
1 | g.99862402C>A | CA341332684 | AGL | c.439C>A (p.Leu147Ile) n.650C>A c.391C>A (p.Leu131Ile) c.388C>A (p.Leu130Ile) | |
1 | g.99862402C= | CA1183924532 | AGL | c.439C= (p.Leu147=) n.650C= c.391C= (p.Leu131=) c.388C= (p.Leu130=) | |
1 | g.99862402C>G | CA341332694 | AGL | c.439C>G (p.Leu147Val) n.650C>G c.391C>G (p.Leu131Val) c.388C>G (p.Leu130Val) | |
1 | g.99862402C>T | CA341332701 | AGL | c.439C>T (p.Leu147Phe) n.650C>T c.391C>T (p.Leu131Phe) c.388C>T (p.Leu130Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.99862402_99862404delinsCTT | CA1183924534 | AGL | c.439_441delinsCTT (p.Leu147=) n.650_652delinsCTT c.391_393delinsCTT (p.Leu131=) c.388_390delinsCTT (p.Leu130=) | |
1 | g.99862403T>A | CA341332707 | AGL | c.440T>A (p.Leu147His) n.651T>A c.392T>A (p.Leu131His) c.389T>A (p.Leu130His) | |
1 | g.99862403T>C | CA341332714 | AGL | c.440T>C (p.Leu147Pro) n.651T>C c.392T>C (p.Leu131Pro) c.389T>C (p.Leu130Pro) | |
1 | g.99862403T>G | CA341332717 | AGL | c.440T>G (p.Leu147Arg) n.651T>G c.392T>G (p.Leu131Arg) c.389T>G (p.Leu130Arg) | |
1 | g.99862403_99862404del | CA524878375 | AGL | c.440_441del (p.Leu147GlnfsTer23) n.651_652del c.392_393del (p.Leu131GlnfsTer23) c.389_390del (p.Leu130GlnfsTer23) | ClinVar dbSNP gnomAD v2 gnomAD v4 |