Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7670311G>A | CA403085454 | RETN | c.289G>A (p.Asp97Asn) c.211G>A (p.Asp71Asn) c.331G>A (p.Asp111Asn) | |
19 | g.7670311G>C | CA403085456 | RETN | c.289G>C (p.Asp97His) c.211G>C (p.Asp71His) c.331G>C (p.Asp111His) | gnomAD v4 |
19 | g.7670311G>T | CA403085457 | RETN | c.289G>T (p.Asp97Tyr) c.211G>T (p.Asp71Tyr) c.331G>T (p.Asp111Tyr) | gnomAD v4 |
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 |