Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7670312A>C | CA403085464 | RETN | c.290A>C (p.Asp97Ala) c.212A>C (p.Asp71Ala) c.332A>C (p.Asp111Ala) | gnomAD v4 |
19 | g.7670312A>G | CA403085466 | RETN | c.290A>G (p.Asp97Gly) c.212A>G (p.Asp71Gly) c.332A>G (p.Asp111Gly) | gnomAD v4 |
19 | g.7670312A>T | CA403085468 | RETN | c.290A>T (p.Asp97Val) c.212A>T (p.Asp71Val) c.332A>T (p.Asp111Val) | |
19 | g.7670313C>A | CA403085469 | RETN | c.291C>A (p.Asp97Glu) c.213C>A (p.Asp71Glu) c.333C>A (p.Asp111Glu) | gnomAD v4 |
19 | g.7670313C= | CA2321035951 | RETN | c.291C= (p.Asp97=) c.213C= (p.Asp71=) c.333C= (p.Asp111=) | |
19 | g.7670313C>G | CA9144480 | RETN | c.291C>G (p.Asp97Glu) c.213C>G (p.Asp71Glu) c.333C>G (p.Asp111Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7670313C>T | CA505224907 | RETN | c.291C>T (p.Asp97=) c.213C>T (p.Asp71=) c.333C>T (p.Asp111=) | gnomAD v4 |
19 | g.7670314T>A | CA403085473 | RETN | c.292T>A (p.Trp98Arg) c.214T>A (p.Trp72Arg) c.334T>A (p.Trp112Arg) | |
19 | g.7670314T>C | CA403085474 | RETN | c.292T>C (p.Trp98Arg) c.214T>C (p.Trp72Arg) c.334T>C (p.Trp112Arg) | |
19 | g.7670314T>G | CA403085475 | RETN | c.292T>G (p.Trp98Gly) c.214T>G (p.Trp72Gly) c.334T>G (p.Trp112Gly) | gnomAD v4 |
19 | g.7670315G>A | CA403085476 | RETN | c.293G>A (p.Trp98Ter) c.215G>A (p.Trp72Ter) c.335G>A (p.Trp112Ter) | gnomAD v4 |
19 | g.7670315G>C | CA403085477 | RETN | c.293G>C (p.Trp98Ser) c.215G>C (p.Trp72Ser) c.335G>C (p.Trp112Ser) | |
19 | g.7670315G= | CA2321035952 | RETN | c.293G= (p.Trp98=) c.215G= (p.Trp72=) c.335G= (p.Trp112=) | |
19 | g.7670315G>T | CA304896669 | RETN | c.293G>T (p.Trp98Leu) c.215G>T (p.Trp72Leu) c.335G>T (p.Trp112Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670316G>A | CA403085479 | RETN | c.294G>A (p.Trp98Ter) c.216G>A (p.Trp72Ter) c.336G>A (p.Trp112Ter) | |
19 | g.7670316G>C | CA9144481 | RETN | c.294G>C (p.Trp98Cys) c.216G>C (p.Trp72Cys) c.336G>C (p.Trp112Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670316G= | CA2321035953 | RETN | c.294G= (p.Trp98=) c.216G= (p.Trp72=) c.336G= (p.Trp112=) | |
19 | g.7670316G>T | CA403085482 | RETN | c.294G>T (p.Trp98Cys) c.216G>T (p.Trp72Cys) c.336G>T (p.Trp112Cys) | gnomAD v4 |
19 | g.7670317A>C | CA403085484 | RETN | c.295A>C (p.Thr99Pro) c.217A>C (p.Thr73Pro) c.337A>C (p.Thr113Pro) | |
19 | g.7670317A>G | CA403085486 | RETN | c.295A>G (p.Thr99Ala) c.217A>G (p.Thr73Ala) c.337A>G (p.Thr113Ala) | |
19 | g.7670317A>T | CA403085488 | RETN | c.295A>T (p.Thr99Ser) c.217A>T (p.Thr73Ser) c.337A>T (p.Thr113Ser) | |
19 | g.7670318C>A | CA403085490 | RETN | c.296C>A (p.Thr99Asn) c.218C>A (p.Thr73Asn) c.338C>A (p.Thr113Asn) | |
19 | g.7670318C= | CA2321035954 | RETN | c.296C= (p.Thr99=) c.218C= (p.Thr73=) c.338C= (p.Thr113=) | |
19 | g.7670318C>G | CA403085492 | RETN | c.296C>G (p.Thr99Ser) c.218C>G (p.Thr73Ser) c.338C>G (p.Thr113Ser) | |
19 | g.7670318C>T | CA403085494 | RETN | c.296C>T (p.Thr99Ile) c.218C>T (p.Thr73Ile) c.338C>T (p.Thr113Ile) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7670319C>A | CA505224914 | RETN | c.297C>A (p.Thr99=) c.219C>A (p.Thr73=) c.339C>A (p.Thr113=) | gnomAD v4 |
19 | g.7670319C= | CA2321035955 | RETN | c.297C= (p.Thr99=) c.219C= (p.Thr73=) c.339C= (p.Thr113=) | |
19 | g.7670319C>G | CA505224915 | RETN | c.297C>G (p.Thr99=) c.219C>G (p.Thr73=) c.339C>G (p.Thr113=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670319C>T | CA9144482 | RETN | c.297C>T (p.Thr99=) c.219C>T (p.Thr73=) c.339C>T (p.Thr113=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670320G>A | CA403085496 | RETN | c.298G>A (p.Gly100Arg) c.220G>A (p.Gly74Arg) c.340G>A (p.Gly114Arg) | gnomAD v4 |
19 | g.7670320G>C | CA403085497 | RETN | c.298G>C (p.Gly100Arg) c.220G>C (p.Gly74Arg) c.340G>C (p.Gly114Arg) | gnomAD v4 |
19 | g.7670320G>T | CA403085498 | RETN | c.298G>T (p.Gly100Ter) c.220G>T (p.Gly74Ter) c.340G>T (p.Gly114Ter) | gnomAD v4 |
19 | g.7670321G>A | CA9144483 | RETN | c.299G>A (p.Gly100Glu) c.221G>A (p.Gly74Glu) c.341G>A (p.Gly114Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7670321G>C | CA403085502 | RETN | c.299G>C (p.Gly100Ala) c.221G>C (p.Gly74Ala) c.341G>C (p.Gly114Ala) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7670321G= | CA2321035956 | RETN | c.299G= (p.Gly100=) c.221G= (p.Gly74=) c.341G= (p.Gly114=) | |
19 | g.7670321G>T | CA403085501 | RETN | c.299G>T (p.Gly100Val) c.221G>T (p.Gly74Val) c.341G>T (p.Gly114Val) | gnomAD v4 |
19 | g.7670322A>C | CA505224918 | RETN | c.300A>C (p.Gly100=) c.222A>C (p.Gly74=) c.342A>C (p.Gly114=) | |
19 | g.7670322A>G | CA505224919 | RETN | c.300A>G (p.Gly100=) c.222A>G (p.Gly74=) c.342A>G (p.Gly114=) | gnomAD v4 |
19 | g.7670322A>T | CA505224920 | RETN | c.300A>T (p.Gly100=) c.222A>T (p.Gly74=) c.342A>T (p.Gly114=) | |
19 | g.7670323G>A | CA403085503 | RETN | c.301G>A (p.Ala101Thr) c.223G>A (p.Ala75Thr) c.343G>A (p.Ala115Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7670323G>C | CA403085504 | RETN | c.301G>C (p.Ala101Pro) c.223G>C (p.Ala75Pro) c.343G>C (p.Ala115Pro) | |
19 | g.7670323G= | CA2321035957 | RETN | c.301G= (p.Ala101=) c.223G= (p.Ala75=) c.343G= (p.Ala115=) | |
19 | g.7670323G>T | CA403085506 | RETN | c.301G>T (p.Ala101Ser) c.223G>T (p.Ala75Ser) c.343G>T (p.Ala115Ser) | gnomAD v4 |
19 | g.7670324C>A | CA403085508 | RETN | c.302C>A (p.Ala101Glu) c.224C>A (p.Ala75Glu) c.344C>A (p.Ala115Glu) | gnomAD v4 |
19 | g.7670324C= | CA2321035958 | RETN | c.302C= (p.Ala101=) c.224C= (p.Ala75=) c.344C= (p.Ala115=) | |
19 | g.7670324C>G | CA403085509 | RETN | c.302C>G (p.Ala101Gly) c.224C>G (p.Ala75Gly) c.344C>G (p.Ala115Gly) | gnomAD v4 |
19 | g.7670324C>T | CA403085510 | RETN | c.302C>T (p.Ala101Val) c.224C>T (p.Ala75Val) c.344C>T (p.Ala115Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7670325G>A | CA505224922 | RETN | c.303G>A (p.Ala101=) c.225G>A (p.Ala75=) c.345G>A (p.Ala115=) | gnomAD v4 |
19 | g.7670325G>C | CA505224923 | RETN | c.303G>C (p.Ala101=) c.225G>C (p.Ala75=) c.345G>C (p.Ala115=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7670325G= | CA2321035959 | RETN | c.303G= (p.Ala101=) c.225G= (p.Ala75=) c.345G= (p.Ala115=) | |
19 | g.7670325G>T | CA505224924 | RETN | c.303G>T (p.Ala101=) c.225G>T (p.Ala75=) c.345G>T (p.Ala115=) | gnomAD v4 |
19 | g.7670326C>A | CA403085511 | RETN | c.304C>A (p.Arg102Ser) c.226C>A (p.Arg76Ser) c.346C>A (p.Arg116Ser) | gnomAD v4 |
19 | g.7670326C= | CA2321035960 | RETN | c.304C= (p.Arg102=) c.226C= (p.Arg76=) c.346C= (p.Arg116=) | |
19 | g.7670326C>G | CA403085512 | RETN | c.304C>G (p.Arg102Gly) c.226C>G (p.Arg76Gly) c.346C>G (p.Arg116Gly) | dbSNP gnomAD v4 |
19 | g.7670326C>T | CA403085513 | RETN | c.304C>T (p.Arg102Cys) c.226C>T (p.Arg76Cys) c.346C>T (p.Arg116Cys) | gnomAD v4 |
19 | g.7670327G>A | CA403085514 | RETN | c.305G>A (p.Arg102His) c.227G>A (p.Arg76His) c.347G>A (p.Arg116His) | gnomAD v4 |
19 | g.7670327G>C | CA403085515 | RETN | c.305G>C (p.Arg102Pro) c.227G>C (p.Arg76Pro) c.347G>C (p.Arg116Pro) | gnomAD v4 |
19 | g.7670327G>T | CA403085516 | RETN | c.305G>T (p.Arg102Leu) c.227G>T (p.Arg76Leu) c.347G>T (p.Arg116Leu) | gnomAD v4 |
19 | g.7670328C>A | CA505224927 | RETN | c.306C>A (p.Arg102=) c.228C>A (p.Arg76=) c.348C>A (p.Arg116=) | gnomAD v4 |
19 | g.7670328C= | CA2321035961 | RETN | c.306C= (p.Arg102=) c.228C= (p.Arg76=) c.348C= (p.Arg116=) | |
19 | g.7670328C>G | CA505224928 | RETN | c.306C>G (p.Arg102=) c.228C>G (p.Arg76=) c.348C>G (p.Arg116=) | |
19 | g.7670328C>T | CA9144484 | RETN | c.306C>T (p.Arg102=) c.228C>T (p.Arg76=) c.348C>T (p.Arg116=) | dbSNP ExAC gnomAD v2 |
19 | g.7670329T>A | CA403085522 | RETN | c.307T>A (p.Cys103Ser) c.229T>A (p.Cys77Ser) c.349T>A (p.Cys117Ser) | |
19 | g.7670329T>C | CA403085528 | RETN | c.307T>C (p.Cys103Arg) c.229T>C (p.Cys77Arg) c.349T>C (p.Cys117Arg) | gnomAD v4 |
19 | g.7670329T>G | CA304896675 | RETN | c.307T>G (p.Cys103Gly) c.229T>G (p.Cys77Gly) c.349T>G (p.Cys117Gly) | dbSNP gnomAD v4 |
19 | g.7670329T= | CA2321035962 | RETN | c.307T= (p.Cys103=) c.229T= (p.Cys77=) c.349T= (p.Cys117=) | |
19 | g.7670330G>A | CA403085531 | RETN | c.308G>A (p.Cys103Tyr) c.230G>A (p.Cys77Tyr) c.350G>A (p.Cys117Tyr) | gnomAD v4 |
19 | g.7670330G>C | CA403085538 | RETN | c.308G>C (p.Cys103Ser) c.230G>C (p.Cys77Ser) c.350G>C (p.Cys117Ser) | |
19 | g.7670330G>T | CA403085534 | RETN | c.308G>T (p.Cys103Phe) c.230G>T (p.Cys77Phe) c.350G>T (p.Cys117Phe) | gnomAD v4 |
19 | g.7670331C>A | CA403085540 | RETN | c.309C>A (p.Cys103Ter) c.231C>A (p.Cys77Ter) c.351C>A (p.Cys117Ter) | |
19 | g.7670331C>G | CA403085541 | RETN | c.309C>G (p.Cys103Trp) c.231C>G (p.Cys77Trp) c.351C>G (p.Cys117Trp) | |
19 | g.7670331C>T | CA505224934 | RETN | c.309C>T (p.Cys103=) c.231C>T (p.Cys77=) c.351C>T (p.Cys117=) | gnomAD v4 |
19 | g.7670332T>A | CA403085544 | RETN | c.310T>A (p.Cys104Ser) c.232T>A (p.Cys78Ser) c.352T>A (p.Cys118Ser) | gnomAD v4 |
19 | g.7670332T>C | CA403085546 | RETN | c.310T>C (p.Cys104Arg) c.232T>C (p.Cys78Arg) c.352T>C (p.Cys118Arg) | |
19 | g.7670332T>G | CA403085548 | RETN | c.310T>G (p.Cys104Gly) c.232T>G (p.Cys78Gly) c.352T>G (p.Cys118Gly) | |
19 | g.7670333G>A | CA304896677 | RETN | c.311G>A (p.Cys104Tyr) c.233G>A (p.Cys78Tyr) c.353G>A (p.Cys118Tyr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7670333G>C | CA403085552 | RETN | c.311G>C (p.Cys104Ser) c.233G>C (p.Cys78Ser) c.353G>C (p.Cys118Ser) | |
19 | g.7670333G= | CA2321035963 | RETN | c.311G= (p.Cys104=) c.233G= (p.Cys78=) c.353G= (p.Cys118=) | |
19 | g.7670333G>T | CA403085554 | RETN | c.311G>T (p.Cys104Phe) c.233G>T (p.Cys78Phe) c.353G>T (p.Cys118Phe) | gnomAD v4 |
19 | g.7670334T>A | CA403085556 | RETN | c.312T>A (p.Cys104Ter) c.234T>A (p.Cys78Ter) c.354T>A (p.Cys118Ter) | |
19 | g.7670334T>C | CA505224937 | RETN | c.312T>C (p.Cys104=) c.234T>C (p.Cys78=) c.354T>C (p.Cys118=) | gnomAD v4 |
19 | g.7670334T>G | CA403085558 | RETN | c.312T>G (p.Cys104Trp) c.234T>G (p.Cys78Trp) c.354T>G (p.Cys118Trp) | |
19 | g.7670335C>A | CA403085559 | RETN | c.313C>A (p.Arg105Ser) c.235C>A (p.Arg79Ser) c.355C>A (p.Arg119Ser) | gnomAD v4 |
19 | g.7670335C= | CA2321035964 | RETN | c.313C= (p.Arg105=) c.235C= (p.Arg79=) c.355C= (p.Arg119=) | |
19 | g.7670335C>G | CA9144485 | RETN | c.313C>G (p.Arg105Gly) c.235C>G (p.Arg79Gly) c.355C>G (p.Arg119Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670335C>T | CA403085567 | RETN | c.313C>T (p.Arg105Cys) c.235C>T (p.Arg79Cys) c.355C>T (p.Arg119Cys) | |
19 | g.7670336G>A | CA403085575 | RETN | c.314G>A (p.Arg105His) c.236G>A (p.Arg79His) c.356G>A (p.Arg119His) | gnomAD v4 |
19 | g.7670336G>C | CA403085570 | RETN | c.314G>C (p.Arg105Pro) c.236G>C (p.Arg79Pro) c.356G>C (p.Arg119Pro) | |
19 | g.7670336G= | CA2321035965 | RETN | c.314G= (p.Arg105=) c.236G= (p.Arg79=) c.356G= (p.Arg119=) | |
19 | g.7670336G>T | CA403085572 | RETN | c.314G>T (p.Arg105Leu) c.236G>T (p.Arg79Leu) c.356G>T (p.Arg119Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670337T>A | CA9144486 | RETN | c.315T>A (p.Arg105=) c.237T>A (p.Arg79=) c.357T>A (p.Arg119=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7670337T>C | CA505224939 | RETN | c.315T>C (p.Arg105=) c.237T>C (p.Arg79=) c.357T>C (p.Arg119=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7670337T>G | CA505224938 | RETN | c.315T>G (p.Arg105=) c.237T>G (p.Arg79=) c.357T>G (p.Arg119=) | dbSNP gnomAD v4 |
19 | g.7670337T= | CA2321035966 | RETN | c.315T= (p.Arg105=) c.237T= (p.Arg79=) c.357T= (p.Arg119=) | |
19 | g.7670338G>A | CA403085581 | RETN | c.316G>A (p.Val106Met) c.238G>A (p.Val80Met) c.358G>A (p.Val120Met) | gnomAD v4 |
19 | g.7670338G>C | CA403085590 | RETN | c.316G>C (p.Val106Leu) c.238G>C (p.Val80Leu) c.358G>C (p.Val120Leu) | |
19 | g.7670338G>T | CA403085592 | RETN | c.316G>T (p.Val106Leu) c.238G>T (p.Val80Leu) c.358G>T (p.Val120Leu) | gnomAD v4 |
19 | g.7670339T>A | CA403085594 | RETN | c.317T>A (p.Val106Glu) c.239T>A (p.Val80Glu) c.359T>A (p.Val120Glu) | |
19 | g.7670339T>C | CA403085597 | RETN | c.317T>C (p.Val106Ala) c.239T>C (p.Val80Ala) c.359T>C (p.Val120Ala) | dbSNP gnomAD v3 |
19 | g.7670339T>G | CA403085598 | RETN | c.317T>G (p.Val106Gly) c.239T>G (p.Val80Gly) c.359T>G (p.Val120Gly) | |
19 | g.7670340G>A | CA505224941 | RETN | c.318G>A (p.Val106=) c.240G>A (p.Val80=) c.360G>A (p.Val120=) | gnomAD v4 |
19 | g.7670340G>C | CA505224942 | RETN | c.318G>C (p.Val106=) c.240G>C (p.Val80=) c.360G>C (p.Val120=) | |
19 | g.7670340G>T | CA505224943 | RETN | c.318G>T (p.Val106=) c.240G>T (p.Val80=) c.360G>T (p.Val120=) | gnomAD v4 |
19 | g.7670341C>A | CA403085599 | RETN | c.319C>A (p.Gln107Lys) c.241C>A (p.Gln81Lys) c.361C>A (p.Gln121Lys) | |
19 | g.7670341C>G | CA403085601 | RETN | c.319C>G (p.Gln107Glu) c.241C>G (p.Gln81Glu) c.361C>G (p.Gln121Glu) | |
19 | g.7670341C>T | CA403085604 | RETN | c.319C>T (p.Gln107Ter) c.241C>T (p.Gln81Ter) c.361C>T (p.Gln121Ter) | gnomAD v4 |
19 | g.7670342A>C | CA403085611 | RETN | c.320A>C (p.Gln107Pro) c.242A>C (p.Gln81Pro) c.362A>C (p.Gln121Pro) | |
19 | g.7670342A>G | CA403085612 | RETN | c.320A>G (p.Gln107Arg) c.242A>G (p.Gln81Arg) c.362A>G (p.Gln121Arg) | |
19 | g.7670342A>T | CA403085608 | RETN | c.320A>T (p.Gln107Leu) c.242A>T (p.Gln81Leu) c.362A>T (p.Gln121Leu) | |
19 | g.7670343G>A | CA505224945 | RETN | c.321G>A (p.Gln107=) c.243G>A (p.Gln81=) c.363G>A (p.Gln121=) | |
19 | g.7670343G>C | CA403085614 | RETN | c.321G>C (p.Gln107His) c.243G>C (p.Gln81His) c.363G>C (p.Gln121His) | |
19 | g.7670343G>T | CA403085615 | RETN | c.321G>T (p.Gln107His) c.243G>T (p.Gln81His) c.363G>T (p.Gln121His) | gnomAD v4 |
19 | g.7670344C>A | CA403085617 | RETN | c.322C>A (p.Pro108Thr) c.244C>A (p.Pro82Thr) c.364C>A (p.Pro122Thr) | dbSNP gnomAD v4 |
19 | g.7670344C= | CA2321035967 | RETN | c.322C= (p.Pro108=) c.244C= (p.Pro82=) c.364C= (p.Pro122=) | |
19 | g.7670344C>G | CA403085619 | RETN | c.322C>G (p.Pro108Ala) c.244C>G (p.Pro82Ala) c.364C>G (p.Pro122Ala) | |
19 | g.7670344C>T | CA403085620 | RETN | c.322C>T (p.Pro108Ser) c.244C>T (p.Pro82Ser) c.364C>T (p.Pro122Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670345C>A | CA403085625 | RETN | c.323C>A (p.Pro108His) c.245C>A (p.Pro82His) c.365C>A (p.Pro122His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670345C= | CA2321035968 | RETN | c.323C= (p.Pro108=) c.245C= (p.Pro82=) c.365C= (p.Pro122=) | |
19 | g.7670345C>G | CA403085622 | RETN | c.323C>G (p.Pro108Arg) c.245C>G (p.Pro82Arg) c.365C>G (p.Pro122Arg) | |
19 | g.7670345C>T | CA403085623 | RETN | c.323C>T (p.Pro108Leu) c.245C>T (p.Pro82Leu) c.365C>T (p.Pro122Leu) | gnomAD v4 |
19 | g.7670346C>A | CA505224948 | RETN | c.324C>A (p.Pro108=) c.246C>A (p.Pro82=) c.366C>A (p.Pro122=) | gnomAD v4 |
19 | g.7670346C= | CA2321035969 | RETN | c.324C= (p.Pro108=) c.246C= (p.Pro82=) c.366C= (p.Pro122=) | |
19 | g.7670346C>G | CA505224949 | RETN | c.324C>G (p.Pro108=) c.246C>G (p.Pro82=) c.366C>G (p.Pro122=) | |
19 | g.7670346C>T | CA505224950 | RETN | c.324C>T (p.Pro108=) c.246C>T (p.Pro82=) c.366C>T (p.Pro122=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7670347T>A | CA403085627 | RETN | c.325T>A (p.Ter109Arg) c.247T>A (p.Ter83Arg) c.367T>A (p.Ter123Arg) | gnomAD v4 |
19 | g.7670347T>C | CA403085628 | RETN | c.325T>C (p.Ter109Arg) c.247T>C (p.Ter83Arg) c.367T>C (p.Ter123Arg) | gnomAD v4 |
19 | g.7670347T>G | CA403085630 | RETN | c.325T>G (p.Ter109Gly) c.247T>G (p.Ter83Gly) c.367T>G (p.Ter123Gly) | |
19 | g.7670348G>A | CA505224953 | RETN | c.326G>A (p.Ter109=) c.248G>A (p.Ter83=) c.368G>A (p.Ter123=) | dbSNP |
19 | g.7670348G>C | CA403085632 | RETN | c.326G>C (p.Ter109Ser) c.248G>C (p.Ter83Ser) c.368G>C (p.Ter123Ser) | |
19 | g.7670348G= | CA2321035970 | RETN | c.326G= (p.Ter109=) c.248G= (p.Ter83=) c.368G= (p.Ter123=) | |
19 | g.7670348G>T | CA403085634 | RETN | c.326G>T (p.Ter109Leu) c.248G>T (p.Ter83Leu) c.368G>T (p.Ter123Leu) | gnomAD v4 |
19 | g.7670349A>C | CA403085635 | RETN | c.327A>C (p.Ter109Cys) c.249A>C (p.Ter83Cys) c.369A>C (p.Ter123Cys) | gnomAD v4 |
19 | g.7670349A>G | CA403085639 | RETN | c.327A>G (p.Ter109Trp) c.249A>G (p.Ter83Trp) c.369A>G (p.Ter123Trp) | gnomAD v4 |
19 | g.7670349A>T | CA403085637 | RETN | c.327A>T (p.Ter109Cys) c.249A>T (p.Ter83Cys) c.369A>T (p.Ter123Cys) | |
19 | g.7670350G>A | CA2576600014 | RETN | c.*1G>A (n.*1G>A) | gnomAD v4 |
19 | g.7670350G>T | CA2587980627 | RETN | c.*1G>T (n.*1G>T) | gnomAD v4 |
19 | g.7670353C>A | CA884225525 | RETN | c.*4C>A (n.*4C>A) | dbSNP gnomAD v4 |
19 | g.7670353C= | CA2321035971 | RETN | c.*4C= (n.*4C=) | |
19 | g.7670353C>T | CA2587980628 | RETN | c.*4C>T (n.*4C>T) | gnomAD v4 |
19 | g.7670354G>A | CA9144487 | RETN | c.*5G>A (n.*5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7670354G>C | CA2321035972 | RETN | c.*5G>C (n.*5G>C) | dbSNP gnomAD v4 |
19 | g.7670354G= | CA2321035973 | RETN | c.*5G= (n.*5G=) | |
19 | g.7670354G>T | CA2587980629 | RETN | c.*5G>T (n.*5G>T) | gnomAD v4 |
19 | g.7670355C>A | CA2321035976 | RETN | c.*6C>A (n.*6C>A) | dbSNP gnomAD v4 |
19 | g.7670355C= | CA2321035975 | RETN | c.*6C= (n.*6C=) | |
19 | g.7670355C>G | CA2576600015 | RETN | c.*6C>G (n.*6C>G) | |
19 | g.7670355C>T | CA2587980630 | RETN | c.*6C>T (n.*6C>T) | gnomAD v4 |
19 | g.7670355_7670366delinsCGCGCAGCGCGT | CA2321035974 | RETN | c.*6_*17delinsCGCGCAGCGCGT (n.*6_*17delinsCGCGCAGCGCGT) | |
19 | g.7670356G>A | CA884225532 | RETN | c.*7G>A (n.*7G>A) | dbSNP gnomAD v4 |
19 | g.7670356G= | CA2321035977 | RETN | c.*7G= (n.*7G=) | |
19 | g.7670356G>T | CA9144488 | RETN | c.*7G>T (n.*7G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670358_7670368del | CA884225530 | RETN | c.*9_*19del (n.*9_*19del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7670357C>A | CA2587980631 | RETN | c.*8C>A (n.*8C>A) | gnomAD v4 |
19 | g.7670357C>T | CA2587980632 | RETN | c.*8C>T (n.*8C>T) | gnomAD v4 |
19 | g.7670358G>A | CA2587980633 | RETN | c.*9G>A (n.*9G>A) | gnomAD v4 |
19 | g.7670358G>T | CA2587980634 | RETN | c.*9G>T (n.*9G>T) | gnomAD v4 |
19 | g.7670359C>T | CA2587980635 | RETN | c.*10C>T (n.*10C>T) | gnomAD v4 |
19 | g.7670360A>C | CA2576600016 | RETN | c.*11A>C (n.*11A>C) | |
19 | g.7670361G>C | CA2587980636 | RETN | c.*12G>C (n.*12G>C) | gnomAD v4 |
19 | g.7670361G>T | CA2587980637 | RETN | c.*12G>T (n.*12G>T) | gnomAD v4 |
19 | g.7670362C>A | CA993164430 | RETN | c.*13C>A (n.*13C>A) | gnomAD v3 gnomAD v4 |
19 | g.7670362C= | CA2321035978 | RETN | c.*13C= (n.*13C=) | |
19 | g.7670362C>T | CA9144489 | RETN | c.*13C>T (n.*13C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670363G>A | CA2813480356 | RETN | c.*14G>A (n.*14G>A) | |
19 | g.7670363G>T | CA2587980638 | RETN | c.*14G>T (n.*14G>T) | gnomAD v4 |
19 | g.7670364C>T | CA2587980639 | RETN | c.*15C>T (n.*15C>T) | gnomAD v4 |
19 | g.7670365G>A | CA2587980640 | RETN | c.*16G>A (n.*16G>A) | gnomAD v4 |
19 | g.7670365G>C | CA2587980641 | RETN | c.*16G>C (n.*16G>C) | gnomAD v4 |
19 | g.7670365G= | CA2321035979 | RETN | c.*16G= (n.*16G=) | |
19 | g.7670365G>T | CA9144490 | RETN | c.*16G>T (n.*16G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670366T>A | CA631314192 | RETN | c.*17T>A (n.*17T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670366T= | CA2321035980 | RETN | c.*17T= (n.*17T=) | |
19 | g.7670367G>A | CA9144491 | RETN | c.*18G>A (n.*18G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670367G= | CA2321035981 | RETN | c.*18G= (n.*18G=) | |
19 | g.7670367G>T | CA2587980642 | RETN | c.*18G>T (n.*18G>T) | gnomAD v4 |
19 | g.7670368C>T | CA2576600017 | RETN | c.*19C>T (n.*19C>T) | gnomAD v4 |
19 | g.7670369A>G | CA2587980643 | RETN | c.*20A>G (n.*20A>G) | gnomAD v4 |
19 | g.7670370C>T | CA2587980644 | RETN | c.*21C>T (n.*21C>T) | gnomAD v4 |
19 | g.7670371A= | CA2321035982 | RETN | c.*22A= (n.*22A=) | |
19 | g.7670371A>C | CA2587980645 | RETN | c.*22A>C (n.*22A>C) | gnomAD v4 |
19 | g.7670371A>T | CA9144492 | RETN | c.*22A>T (n.*22A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670372G>T | CA2587980646 | RETN | c.*23G>T (n.*23G>T) | gnomAD v4 |
19 | g.7670373C>A | CA2576600018 | RETN | c.*24C>A (n.*24C>A) | |
19 | g.7670373C>T | CA2587980647 | RETN | c.*24C>T (n.*24C>T) | gnomAD v4 |
19 | g.7670374G>C | CA2587980648 | RETN | c.*25G>C (n.*25G>C) | gnomAD v4 |
19 | g.7670374G>T | CA2587980649 | RETN | c.*25G>T (n.*25G>T) | gnomAD v4 |
19 | g.7670375C>A | CA2587980650 | RETN | c.*26C>A (n.*26C>A) | gnomAD v4 |
19 | g.7670375C>G | CA2587980651 | RETN | c.*26C>G (n.*26C>G) | gnomAD v4 |
19 | g.7670375C>T | CA2587980652 | RETN | c.*26C>T (n.*26C>T) | gnomAD v4 |
19 | g.7670376G>A | CA304896689 | RETN | c.*27G>A (n.*27G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7670376G= | CA2321035983 | RETN | c.*27G= (n.*27G=) | |
19 | g.7670376G>T | CA2321035984 | RETN | c.*27G>T (n.*27G>T) | dbSNP gnomAD v4 |
19 | g.7670377G>A | CA2813480358 | RETN | c.*28G>A (n.*28G>A) | |
19 | g.7670377G>T | CA2587980653 | RETN | c.*28G>T (n.*28G>T) | gnomAD v4 |
19 | g.7670378G>A | CA2587980654 | RETN | c.*29G>A (n.*29G>A) | gnomAD v4 |
19 | g.7670378G>T | CA2587980655 | RETN | c.*29G>T (n.*29G>T) | gnomAD v4 |
19 | g.7670379C>A | CA2587980656 | RETN | c.*30C>A (n.*30C>A) | gnomAD v4 |
19 | g.7670379C>T | CA2587980657 | RETN | c.*30C>T (n.*30C>T) | gnomAD v4 |
19 | g.7670380G>A | CA631314193 | RETN | c.*31G>A (n.*31G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7670380G= | CA2321035985 | RETN | c.*31G= (n.*31G=) | |
19 | g.7670381G>A | CA631314195 | RETN | c.*32G>A (n.*32G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7670381G= | CA2321035986 | RETN | c.*32G= (n.*32G=) | |
19 | g.7670382A>G | CA2587980658 | RETN | c.*33A>G (n.*33A>G) | gnomAD v4 |
19 | g.7670383G>T | CA2587980659 | RETN | c.*34G>T (n.*34G>T) | gnomAD v4 |
19 | g.7670384G>A | CA304896691 | RETN | c.*35G>A (n.*35G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7670384G= | CA2321035987 | RETN | c.*35G= (n.*35G=) | |
19 | g.7670384G>T | CA2587980660 | RETN | c.*35G>T (n.*35G>T) | gnomAD v4 |
19 | g.7670385C>A | CA631314199 | RETN | c.*36C>A (n.*36C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7670385C= | CA2321035988 | RETN | c.*36C= (n.*36C=) | |
19 | g.7670385C>T | CA631314197 | RETN | c.*36C>T (n.*36C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7670386G>A | CA2587980661 | RETN | c.*37G>A (n.*37G>A) | gnomAD v4 |
19 | g.7670386G>C | CA2587980662 | RETN | c.*37G>C (n.*37G>C) | gnomAD v4 |
19 | g.7670386G>T | CA2587980663 | RETN | c.*37G>T (n.*37G>T) | gnomAD v4 |
19 | g.7670387G>A | CA2587980664 | RETN | c.*38G>A (n.*38G>A) | gnomAD v4 |
19 | g.7670387G>T | CA2587980665 | RETN | c.*38G>T (n.*38G>T) | gnomAD v4 |
19 | g.7670388C= | CA2321035989 | RETN | c.*39C= (n.*39C=) | |
19 | g.7670388C>G | CA2735376758 | RETN | c.*39C>G (n.*39C>G) | dbSNP |
19 | g.7670388C>T | CA2321035990 | RETN | c.*39C>T (n.*39C>T) | dbSNP gnomAD v4 |
19 | g.7670389T>C | CA631314200 | RETN | c.*40T>C (n.*40T>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7670389T= | CA2321035991 | RETN | c.*40T= (n.*40T=) | |
19 | g.7670390C>A | CA2587980666 | RETN | c.*41C>A (n.*41C>A) | gnomAD v4 |
19 | g.7670390C>G | CA2576600020 | RETN | c.*41C>G (n.*41C>G) | |
19 | g.7670391del | CA2576600019 | RETN | c.*42del (n.*42del) | |
19 | g.7670391C= | CA2321035992 | RETN | c.*42C= (n.*42C=) | |
19 | g.7670391C>T | CA631314202 | RETN | c.*42C>T (n.*42C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7670392A= | CA2321035993 | RETN | c.*43A= (n.*43A=) | |
19 | g.7670392A>G | CA2321035994 | RETN | c.*43A>G (n.*43A>G) | dbSNP gnomAD v4 |
19 | g.7670393G>C | CA2587980667 | RETN | c.*44G>C (n.*44G>C) | gnomAD v4 |
19 | g.7670393G>T | CA657058482 | RETN | c.*44G>T (n.*44G>T) | gnomAD v4 COSMIC |
19 | g.7670394G>A | CA2576600021 | RETN | c.*45G>A (n.*45G>A) | gnomAD v4 |
19 | g.7670394G= | CA2321035995 | RETN | c.*45G= (n.*45G=) | |
19 | g.7670394G>T | CA631314203 | RETN | c.*45G>T (n.*45G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7670395T>C | CA2587980668 | RETN | c.*46T>C (n.*46T>C) | gnomAD v4 |
19 | g.7670395T>G | CA2576600022 | RETN | c.*46T>G (n.*46T>G) | |
19 | g.7670396C>A | CA2587980671 | RETN | c.*47C>A (n.*47C>A) | gnomAD v4 |
19 | g.7670397del | CA2587980669 | RETN | c.*48del (n.*48del) | gnomAD v4 |
19 | g.7670404_7670508del | CA2587980670 | gnomAD v4 | ||
19 | g.7670397C>A | CA2587980672 | RETN | c.*48C>A (n.*48C>A) | gnomAD v4 |
19 | g.7670397C= | CA2321035996 | RETN | c.*48C= (n.*48C=) | |
19 | g.7670397C>T | CA631314204 | RETN | c.*48C>T (n.*48C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7670398G>A | CA2587980673 | RETN | c.*49G>A (n.*49G>A) | gnomAD v4 |
19 | g.7670398G= | CA2321035997 | RETN | c.*49G= (n.*49G=) | |
19 | g.7670398G>T | CA631314206 | RETN | c.*49G>T (n.*49G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670399G>C | CA2587980674 | RETN | c.*50G>C (n.*50G>C) | gnomAD v4 |
19 | g.7670400A= | CA2321035998 | RETN | c.*51A= (n.*51A=) | |
19 | g.7670400A>C | CA9144493 | RETN | c.*51A>C (n.*51A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670401G>A | CA2576600023 | RETN | c.*52G>A (n.*52G>A) | |
19 | g.7670401G>T | CA2587980675 | RETN | c.*52G>T (n.*52G>T) | gnomAD v4 |
19 | g.7670404del | CA2587980676 | RETN | c.*55del (n.*55del) | gnomAD v4 |
19 | g.7670402G>A | CA993164440 | RETN | c.*53G>A (n.*53G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7670402G= | CA2321035999 | RETN | c.*53G= (n.*53G=) | |
19 | g.7670402G>T | CA2587980677 | RETN | c.*53G>T (n.*53G>T) | gnomAD v4 |
19 | g.7670403G>A | CA2321036001 | RETN | c.*54G>A (n.*54G>A) | dbSNP |
19 | g.7670403G>C | CA884225558 | RETN | c.*54G>C (n.*54G>C) | dbSNP |
19 | g.7670403G= | CA2321036000 | RETN | c.*54G= (n.*54G=) | |
19 | g.7670403G>T | CA2587980678 | RETN | c.*54G>T (n.*54G>T) | gnomAD v4 |
19 | g.7670404G>A | CA2576600024 | RETN | c.*55G>A (n.*55G>A) | gnomAD v4 |
19 | g.7670404G>T | CA2587980679 | RETN | c.*55G>T (n.*55G>T) | gnomAD v4 |
19 | g.7670405T>A | CA2587980680 | RETN | c.*56T>A (n.*56T>A) | gnomAD v4 |
19 | g.7670405T>C | CA2587980681 | RETN | c.*56T>C (n.*56T>C) | gnomAD v4 |
19 | g.7670405T>G | CA993164447 | RETN | c.*56T>G (n.*56T>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7670405T= | CA2321036002 | RETN | c.*56T= (n.*56T=) | |
19 | g.7670406T>C | CA884225559 | RETN | c.*57T>C (n.*57T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7670406T= | CA2321036003 | RETN | c.*57T= (n.*57T=) | |
19 | g.7670407G>A | CA2587980683 | RETN | c.*58G>A (n.*58G>A) | gnomAD v4 |
19 | g.7670407G>T | CA2587980684 | RETN | c.*58G>T (n.*58G>T) | gnomAD v4 |
19 | g.7670409_7670416del | CA2587980682 | RETN | c.*60_*67del (n.*60_*67del) | gnomAD v4 |
19 | g.7670408del | CA2587980685 | RETN | c.*59del (n.*59del) | gnomAD v4 |
19 | g.7670408C>A | CA2576600025 | RETN | c.*59C>A (n.*59C>A) | gnomAD v4 |
19 | g.7670408C= | CA2321036005 | RETN | c.*59C= (n.*59C=) | |
19 | g.7670408C>T | CA2321036006 | RETN | c.*59C>T (n.*59C>T) | dbSNP gnomAD v4 |
19 | g.7670408_7670409delinsCG | CA2321036004 | RETN | c.*59_*60delinsCG (n.*59_*60delinsCG) | |
19 | g.7670409G>A | CA2576600026 | RETN | c.*60G>A (n.*60G>A) | gnomAD v4 |
19 | g.7670409G>C | CA2587980687 | RETN | c.*60G>C (n.*60G>C) | gnomAD v4 |
19 | g.7670409G>T | CA2587980686 | RETN | c.*60G>T (n.*60G>T) | dbSNP gnomAD v4 |
19 | g.7670413dup | CA304896695 | RETN | c.*64dup (n.*64dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7670413del | CA631314208 | RETN | c.*64del (n.*64del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670410G>A | CA304896697 | RETN | c.*61G>A (n.*61G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670410G= | CA2321036007 | RETN | c.*61G= (n.*61G=) | |
19 | g.7670410G>T | CA2576600027 | RETN | c.*61G>T (n.*61G>T) | |
19 | g.7670411G>A | CA304896699 | RETN | c.*62G>A (n.*62G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7670411G>C | CA2580607742 | RETN | c.*62G>C (n.*62G>C) | |
19 | g.7670411G= | CA2321036008 | RETN | c.*62G= (n.*62G=) | |
19 | g.7670411G>T | CA2580607743 | RETN | c.*62G>T (n.*62G>T) | gnomAD v4 |
19 | g.7670412G>A | CA2587980688 | RETN | c.*63G>A (n.*63G>A) | gnomAD v4 |
19 | g.7670412G>C | CA2321036010 | RETN | c.*63G>C (n.*63G>C) | dbSNP |
19 | g.7670412G= | CA2321036009 | RETN | c.*63G= (n.*63G=) |