Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.208124127G>A | CA430964576 | CRYGD | c.237C>T (p.Cys79=) n.97+4902G>A | |
2 | g.208124127G>C | CA350092481 | CRYGD | c.237C>G (p.Cys79Trp) n.97+4902G>C | |
2 | g.208124127G>T | CA350092480 | CRYGD | c.237C>A (p.Cys79Ter) n.97+4902G>T | gnomAD v4 |
2 | g.208124128C>A | CA350092482 | CRYGD | c.236G>T (p.Cys79Phe) n.97+4903C>A | |
2 | g.208124128C>G | CA350092483 | CRYGD | c.236G>C (p.Cys79Ser) n.97+4903C>G | |
2 | g.208124128C>T | CA350092484 | CRYGD | c.236G>A (p.Cys79Tyr) n.97+4903C>T | ClinVar |
2 | g.208124129A>C | CA350092485 | CRYGD | c.235T>G (p.Cys79Gly) n.97+4904A>C | |
2 | g.208124129A>G | CA350092486 | CRYGD | c.235T>C (p.Cys79Arg) n.97+4904A>G | |
2 | g.208124129A>T | CA350092487 | CRYGD | c.235T>A (p.Cys79Ser) n.97+4904A>T | |
2 | g.208124130G>A | CA430964577 | CRYGD | c.234C>T (p.Ser78=) n.97+4905G>A | dbSNP gnomAD v4 |
2 | g.208124130G>C | CA430964578 | CRYGD | c.234C>G (p.Ser78=) n.97+4905G>C | gnomAD v4 |
2 | g.208124130G= | CA1323928868 | CRYGD | c.234C= (p.Ser78=) n.97+4905G= | |
2 | g.208124130G>T | CA430964579 | CRYGD | c.234C>A (p.Ser78=) n.97+4905G>T | |
2 | g.208124131G>A | CA350092488 | CRYGD | c.233C>T (p.Ser78Phe) n.97+4906G>A | ClinVar dbSNP |
2 | g.208124131G>C | CA350092490 | CRYGD | c.233C>G (p.Ser78Cys) n.97+4906G>C | |
2 | g.208124131G>T | CA350092489 | CRYGD | c.233C>A (p.Ser78Tyr) n.97+4906G>T | |
2 | g.208124132A>C | CA350092491 | CRYGD | c.232T>G (p.Ser78Ala) n.97+4907A>C | |
2 | g.208124132A>G | CA350092492 | CRYGD | c.232T>C (p.Ser78Pro) n.97+4907A>G | |
2 | g.208124132A>T | CA350092493 | CRYGD | c.232T>A (p.Ser78Thr) n.97+4907A>T | |
2 | g.208124133G>A | CA430964580 | CRYGD | c.231C>T (p.Arg77=) n.97+4908G>A | |
2 | g.208124133G>C | CA430964581 | CRYGD | c.231C>G (p.Arg77=) n.97+4908G>C | |
2 | g.208124133G>T | CA430964582 | CRYGD | c.231C>A (p.Arg77=) n.97+4908G>T | |
2 | g.208124134C>A | CA350092494 | CRYGD | c.230G>T (p.Arg77Leu) n.97+4909C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.208124134C= | CA1323928869 | CRYGD | c.230G= (p.Arg77=) n.97+4909C= | |
2 | g.208124134C>G | CA350092495 | CRYGD | c.230G>C (p.Arg77Pro) n.97+4909C>G | |
2 | g.208124134C>T | CA350092496 | CRYGD | c.230G>A (p.Arg77His) n.97+4909C>T | gnomAD v4 |
2 | g.208124135G>A | CA2077702 | CRYGD | c.229C>T (p.Arg77Cys) n.97+4910G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124135G>C | CA350092497 | CRYGD | c.229C>G (p.Arg77Gly) n.97+4910G>C | |
2 | g.208124135G= | CA1323928870 | CRYGD | c.229C= (p.Arg77=) n.97+4910G= | |
2 | g.208124135G>T | CA350092498 | CRYGD | c.229C>A (p.Arg77Ser) n.97+4910G>T | dbSNP |
2 | g.208124136G>A | CA430964583 | CRYGD | c.228C>T (p.Val76=) n.97+4911G>A | |
2 | g.208124136G>C | CA430964584 | CRYGD | c.228C>G (p.Val76=) n.97+4911G>C | |
2 | g.208124136G>T | CA430964585 | CRYGD | c.228C>A (p.Val76=) n.97+4911G>T | |
2 | g.208124137A= | CA1323928871 | CRYGD | c.227T= (p.Val76=) n.97+4912A= | |
2 | g.208124137A>C | CA350092499 | CRYGD | c.227T>G (p.Val76Gly) n.97+4912A>C | dbSNP |
2 | g.208124137A>G | CA350092500 | CRYGD | c.227T>C (p.Val76Ala) n.97+4912A>G | gnomAD v4 |
2 | g.208124137A>T | CA350092501 | CRYGD | c.227T>A (p.Val76Asp) n.97+4912A>T | |
2 | g.208124138C>A | CA350092504 | CRYGD | c.226G>T (p.Val76Phe) n.97+4913C>A | |
2 | g.208124138C>G | CA350092502 | CRYGD | c.226G>C (p.Val76Leu) n.97+4913C>G | |
2 | g.208124138C>T | CA350092503 | CRYGD | c.226G>A (p.Val76Ile) n.97+4913C>T | |
2 | g.208124139C>A | CA430964588 | CRYGD | c.225G>T (p.Ser75=) n.97+4914C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124139C= | CA1323928872 | CRYGD | c.225G= (p.Ser75=) n.97+4914C= | |
2 | g.208124139C>G | CA430964587 | CRYGD | c.225G>C (p.Ser75=) n.97+4914C>G | gnomAD v4 |
2 | g.208124139C>T | CA430964586 | CRYGD | c.225G>A (p.Ser75=) n.97+4914C>T | gnomAD v4 |
2 | g.208124140G>A | CA350092505 | CRYGD | c.224C>T (p.Ser75Leu) n.97+4915G>A | |
2 | g.208124140G>C | CA350092506 | CRYGD | c.224C>G (p.Ser75Trp) n.97+4915G>C | dbSNP gnomAD v4 |
2 | g.208124140G= | CA1323928873 | CRYGD | c.224C= (p.Ser75=) n.97+4915G= | |
2 | g.208124140G>T | CA350092507 | CRYGD | c.224C>A (p.Ser75Ter) n.97+4915G>T | gnomAD v4 |
2 | g.208124141A>C | CA350092508 | CRYGD | c.223T>G (p.Ser75Ala) n.97+4916A>C | gnomAD v4 |
2 | g.208124141A>G | CA350092509 | CRYGD | c.223T>C (p.Ser75Pro) n.97+4916A>G | ClinVar |
2 | g.208124141A>T | CA350092510 | CRYGD | c.223T>A (p.Ser75Thr) n.97+4916A>T | |
2 | g.208124142G>A | CA430964589 | CRYGD | c.222C>T (p.Asp74=) n.97+4917G>A | |
2 | g.208124142G>C | CA350092511 | CRYGD | c.222C>G (p.Asp74Glu) n.97+4917G>C | dbSNP |
2 | g.208124142G= | CA1323928874 | CRYGD | c.222C= (p.Asp74=) n.97+4917G= | |
2 | g.208124142G>T | CA350092512 | CRYGD | c.222C>A (p.Asp74Glu) n.97+4917G>T | |
2 | g.208124143T>A | CA350092513 | CRYGD | c.221A>T (p.Asp74Val) n.97+4918T>A | |
2 | g.208124143T>C | CA350092514 | CRYGD | c.221A>G (p.Asp74Gly) n.97+4918T>C | |
2 | g.208124143T>G | CA350092515 | CRYGD | c.221A>C (p.Asp74Ala) n.97+4918T>G | |
2 | g.208124144C>A | CA2077703 | CRYGD | c.220G>T (p.Asp74Tyr) n.97+4919C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.208124144C= | CA1323928875 | CRYGD | c.220G= (p.Asp74=) n.97+4919C= | |
2 | g.208124144C>G | CA350092516 | CRYGD | c.220G>C (p.Asp74His) n.97+4919C>G | |
2 | g.208124144C>T | CA350092517 | CRYGD | c.220G>A (p.Asp74Asn) n.97+4919C>T | gnomAD v4 COSMIC |
2 | g.208124145G>A | CA430964590 | CRYGD | c.219C>T (p.Ser73=) n.97+4920G>A | |
2 | g.208124145G>C | CA2077704 | CRYGD | c.219C>G (p.Ser73Arg) n.97+4920G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124145G= | CA1323928876 | CRYGD | c.219C= (p.Ser73=) n.97+4920G= | |
2 | g.208124145G>T | CA350092518 | CRYGD | c.219C>A (p.Ser73Arg) n.97+4920G>T | dbSNP gnomAD v2 |
2 | g.208124146C>A | CA350092519 | CRYGD | c.218G>T (p.Ser73Ile) n.97+4921C>A | |
2 | g.208124146C>G | CA350092520 | CRYGD | c.218G>C (p.Ser73Thr) n.97+4921C>G | |
2 | g.208124146C>T | CA350092521 | CRYGD | c.218G>A (p.Ser73Asn) n.97+4921C>T | |
2 | g.208124147T>A | CA350092522 | CRYGD | c.217A>T (p.Ser73Cys) n.97+4922T>A | |
2 | g.208124147T>C | CA350092523 | CRYGD | c.217A>G (p.Ser73Gly) n.97+4922T>C | |
2 | g.208124147T>G | CA350092524 | CRYGD | c.217A>C (p.Ser73Arg) n.97+4922T>G | |
2 | g.208124148G>A | CA430964591 | CRYGD | c.216C>T (p.Leu72=) n.97+4923G>A | gnomAD v4 |
2 | g.208124148G>C | CA430964592 | CRYGD | c.216C>G (p.Leu72=) n.97+4923G>C | |
2 | g.208124148G>T | CA430964593 | CRYGD | c.216C>A (p.Leu72=) n.97+4923G>T | gnomAD v4 |
2 | g.208124149A>C | CA350092525 | CRYGD | c.215T>G (p.Leu72Arg) n.97+4924A>C | |
2 | g.208124149A>G | CA350092526 | CRYGD | c.215T>C (p.Leu72Pro) n.97+4924A>G | dbSNP |
2 | g.208124149A>T | CA350092527 | CRYGD | c.215T>A (p.Leu72His) n.97+4924A>T | |
2 | g.208124150G>A | CA350092528 | CRYGD | c.214C>T (p.Leu72Phe) n.97+4925G>A | |
2 | g.208124150G>C | CA350092529 | CRYGD | c.214C>G (p.Leu72Val) n.97+4925G>C | |
2 | g.208124150G>T | CA350092530 | CRYGD | c.214C>A (p.Leu72Ile) n.97+4925G>T | |
2 | g.208124150_208124166del | CA2662867688 | CRYGD | c.198_214del (p.Gln68ArgfsTer21) n.97+4925_97+4941del | gnomAD v4 |
2 | g.208124151G>A | CA430964594 | CRYGD | c.213C>T (p.Gly71=) n.97+4926G>A | |
2 | g.208124151G>C | CA430964596 | CRYGD | c.213C>G (p.Gly71=) n.97+4926G>C | |
2 | g.208124151G= | CA1323928877 | CRYGD | c.213C= (p.Gly71=) n.97+4926G= | |
2 | g.208124151G>T | CA430964595 | CRYGD | c.213C>A (p.Gly71=) n.97+4926G>T | |
2 | g.208124152C>A | CA350092531 | CRYGD | c.212G>T (p.Gly71Val) n.97+4927C>A | |
2 | g.208124152C>G | CA350092533 | CRYGD | c.212G>C (p.Gly71Ala) n.97+4927C>G | |
2 | g.208124152C>T | CA350092532 | CRYGD | c.212G>A (p.Gly71Asp) n.97+4927C>T | |
2 | g.208124154dup | CA539389070 | CRYGD | c.212dup (p.Leu72ProfsTer23) n.97+4929dup | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124153C>A | CA350092534 | CRYGD | c.211G>T (p.Gly71Cys) n.97+4928C>A | |
2 | g.208124153C>G | CA350092536 | CRYGD | c.211G>C (p.Gly71Arg) n.97+4928C>G | gnomAD v4 |
2 | g.208124153C>T | CA350092535 | CRYGD | c.211G>A (p.Gly71Ser) n.97+4928C>T | |
2 | g.208124154C>A | CA350092537 | CRYGD | c.210G>T (p.Met70Ile) n.97+4929C>A | |
2 | g.208124154C>G | CA350092538 | CRYGD | c.210G>C (p.Met70Ile) n.97+4929C>G | |
2 | g.208124154C>T | CA350092539 | CRYGD | c.210G>A (p.Met70Ile) n.97+4929C>T | |
2 | g.208124155A= | CA1323928878 | CRYGD | c.209T= (p.Met70=) n.97+4930A= | |
2 | g.208124155A>C | CA350092540 | CRYGD | c.209T>G (p.Met70Arg) n.97+4930A>C | |
2 | g.208124155A>G | CA2077705 | CRYGD | c.209T>C (p.Met70Thr) n.97+4930A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124155A>T | CA350092541 | CRYGD | c.209T>A (p.Met70Lys) n.97+4930A>T | |
2 | g.208124156T>A | CA350092542 | CRYGD | c.208A>T (p.Met70Leu) n.97+4931T>A | |
2 | g.208124156T>C | CA350092543 | CRYGD | c.208A>G (p.Met70Val) n.97+4931T>C | |
2 | g.208124156T>G | CA350092544 | CRYGD | c.208A>C (p.Met70Leu) n.97+4931T>G | |
2 | g.208124157C>A | CA350092545 | CRYGD | c.207G>T (p.Trp69Cys) n.97+4932C>A | |
2 | g.208124157C>G | CA350092546 | CRYGD | c.207G>C (p.Trp69Cys) n.97+4932C>G | |
2 | g.208124157C>T | CA350092547 | CRYGD | c.207G>A (p.Trp69Ter) n.97+4932C>T | gnomAD v4 |
2 | g.208124158C>A | CA350092549 | CRYGD | c.206G>T (p.Trp69Leu) n.97+4933C>A | |
2 | g.208124158C= | CA1323928879 | CRYGD | c.206G= (p.Trp69=) n.97+4933C= | |
2 | g.208124158C>G | CA350092548 | CRYGD | c.206G>C (p.Trp69Ser) n.97+4933C>G | |
2 | g.208124158C>T | CA64607685 | CRYGD | c.206G>A (p.Trp69Ter) n.97+4933C>T | dbSNP gnomAD v4 |
2 | g.208124159A= | CA1323928880 | CRYGD | c.205T= (p.Trp69=) n.97+4934A= | |
2 | g.208124159A>C | CA350092550 | CRYGD | c.205T>G (p.Trp69Gly) n.97+4934A>C | |
2 | g.208124159A>G | CA350092551 | CRYGD | c.205T>C (p.Trp69Arg) n.97+4934A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124159A>T | CA350092552 | CRYGD | c.205T>A (p.Trp69Arg) n.97+4934A>T | |
2 | g.208124160C>A | CA350092553 | CRYGD | c.204G>T (p.Gln68His) n.97+4935C>A | |
2 | g.208124160C= | CA1323928881 | CRYGD | c.204G= (p.Gln68=) n.97+4935C= | |
2 | g.208124160C>G | CA350092554 | CRYGD | c.204G>C (p.Gln68His) n.97+4935C>G | |
2 | g.208124160C>T | CA430964598 | CRYGD | c.204G>A (p.Gln68=) n.97+4935C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124161T>A | CA350092555 | CRYGD | c.203A>T (p.Gln68Leu) n.97+4936T>A | |
2 | g.208124161T>C | CA350092556 | CRYGD | c.203A>G (p.Gln68Arg) n.97+4936T>C | gnomAD v4 |
2 | g.208124161T>G | CA64607688 | CRYGD | c.203A>C (p.Gln68Pro) n.97+4936T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208124161T= | CA1323928882 | CRYGD | c.203A= (p.Gln68=) n.97+4936T= | |
2 | g.208124162G>A | CA350092557 | CRYGD | c.202C>T (p.Gln68Ter) n.97+4937G>A | |
2 | g.208124162G>C | CA350092558 | CRYGD | c.202C>G (p.Gln68Glu) n.97+4937G>C | |
2 | g.208124162G>T | CA350092559 | CRYGD | c.202C>A (p.Gln68Lys) n.97+4937G>T | |
2 | g.208124163C>A | CA350092560 | CRYGD | c.201G>T (p.Gln67His) n.97+4938C>A | gnomAD v4 |
2 | g.208124163C= | CA1323928883 | CRYGD | c.201G= (p.Gln67=) n.97+4938C= | |
2 | g.208124163C>G | CA350092561 | CRYGD | c.201G>C (p.Gln67His) n.97+4938C>G | dbSNP |
2 | g.208124163C>T | CA430964599 | CRYGD | c.201G>A (p.Gln67=) n.97+4938C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124164T>A | CA350092562 | CRYGD | c.200A>T (p.Gln67Leu) n.97+4939T>A | |
2 | g.208124164T>C | CA350092563 | CRYGD | c.200A>G (p.Gln67Arg) n.97+4939T>C | dbSNP |
2 | g.208124164T>G | CA350092564 | CRYGD | c.200A>C (p.Gln67Pro) n.97+4939T>G | |
2 | g.208124164T= | CA1323928884 | CRYGD | c.200A= (p.Gln67=) n.97+4939T= | |
2 | g.208124165G>A | CA2077706 | CRYGD | c.199C>T (p.Gln67Ter) n.97+4940G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208124165G>C | CA350092565 | CRYGD | c.199C>G (p.Gln67Glu) n.97+4940G>C | |
2 | g.208124165G= | CA1323928885 | CRYGD | c.199C= (p.Gln67=) n.97+4940G= | |
2 | g.208124165G>T | CA350092566 | CRYGD | c.199C>A (p.Gln67Lys) n.97+4940G>T | |
2 | g.208124166G>A | CA430964600 | CRYGD | c.198C>T (p.His66=) n.97+4941G>A | |
2 | g.208124166G>C | CA350092567 | CRYGD | c.198C>G (p.His66Gln) n.97+4941G>C | gnomAD v4 |
2 | g.208124166G>T | CA350092568 | CRYGD | c.198C>A (p.His66Gln) n.97+4941G>T | |
2 | g.208124167T>A | CA350092569 | CRYGD | c.197A>T (p.His66Leu) n.97+4942T>A | |
2 | g.208124167T>C | CA350092570 | CRYGD | c.197A>G (p.His66Arg) n.97+4942T>C | |
2 | g.208124167T>G | CA350092571 | CRYGD | c.197A>C (p.His66Pro) n.97+4942T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208124167T= | CA1323928886 | CRYGD | c.197A= (p.His66=) n.97+4942T= | |
2 | g.208124168G>A | CA350092572 | CRYGD | c.196C>T (p.His66Tyr) n.97+4943G>A | |
2 | g.208124168G>C | CA350092573 | CRYGD | c.196C>G (p.His66Asp) n.97+4943G>C | |
2 | g.208124168G>T | CA350092574 | CRYGD | c.196C>A (p.His66Asn) n.97+4943G>T | |
2 | g.208124169G>A | CA430964601 | CRYGD | c.195C>T (p.Asp65=) n.97+4944G>A | |
2 | g.208124169G>C | CA350092575 | CRYGD | c.195C>G (p.Asp65Glu) n.97+4944G>C | |
2 | g.208124169G>T | CA350092576 | CRYGD | c.195C>A (p.Asp65Glu) n.97+4944G>T | |
2 | g.208124170T>A | CA350092577 | CRYGD | c.194A>T (p.Asp65Val) n.97+4945T>A | |
2 | g.208124170T>C | CA350092578 | CRYGD | c.194A>G (p.Asp65Gly) n.97+4945T>C | |
2 | g.208124170T>G | CA350092579 | CRYGD | c.194A>C (p.Asp65Ala) n.97+4945T>G | |
2 | g.208124171C>A | CA350092580 | CRYGD | c.193G>T (p.Asp65Tyr) n.97+4946C>A | gnomAD v4 |
2 | g.208124171C>G | CA350092581 | CRYGD | c.193G>C (p.Asp65His) n.97+4946C>G | |
2 | g.208124171C>T | CA350092582 | CRYGD | c.193G>A (p.Asp65Asn) n.97+4946C>T | ClinVar gnomAD v4 COSMIC |
2 | g.208124172G>A | CA430964602 | CRYGD | c.192C>T (p.Ala64=) n.97+4947G>A | |
2 | g.208124172G>C | CA2077707 | CRYGD | c.192C>G (p.Ala64=) n.97+4947G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124172G= | CA1323928887 | CRYGD | c.192C= (p.Ala64=) n.97+4947G= | |
2 | g.208124172G>T | CA2077708 | CRYGD | c.192C>A (p.Ala64=) n.97+4947G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208124173G>A | CA350092583 | CRYGD | c.191C>T (p.Ala64Val) n.97+4948G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.208124173G>C | CA350092584 | CRYGD | c.191C>G (p.Ala64Gly) n.97+4948G>C | |
2 | g.208124173G= | CA1323928888 | CRYGD | c.191C= (p.Ala64=) n.97+4948G= | |
2 | g.208124173G>T | CA350092585 | CRYGD | c.191C>A (p.Ala64Asp) n.97+4948G>T | |
2 | g.208124174C>A | CA350092588 | CRYGD | c.190G>T (p.Ala64Ser) n.97+4949C>A | |
2 | g.208124174C= | CA1323928889 | CRYGD | c.190G= (p.Ala64=) n.97+4949C= | |
2 | g.208124174C>G | CA350092587 | CRYGD | c.190G>C (p.Ala64Pro) n.97+4949C>G | dbSNP |
2 | g.208124174C>T | CA350092586 | CRYGD | c.190G>A (p.Ala64Thr) n.97+4949C>T | dbSNP gnomAD v4 |
2 | g.208124175A= | CA1323928890 | CRYGD | c.189T= (p.Tyr63=) n.97+4950A= | |
2 | g.208124175A>C | CA350092589 | CRYGD | c.189T>G (p.Tyr63Ter) n.97+4950A>C | |
2 | g.208124175A>G | CA2077709 | CRYGD | c.189T>C (p.Tyr63=) n.97+4950A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124175A>T | CA350092590 | CRYGD | c.189T>A (p.Tyr63Ter) n.97+4950A>T | |
2 | g.208124176T>A | CA350092591 | CRYGD | c.188A>T (p.Tyr63Phe) n.97+4951T>A | |
2 | g.208124176T>C | CA2077710 | CRYGD | c.188A>G (p.Tyr63Cys) n.97+4951T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124176T>G | CA350092592 | CRYGD | c.188A>C (p.Tyr63Ser) n.97+4951T>G | |
2 | g.208124176T= | CA1323928891 | CRYGD | c.188A= (p.Tyr63=) n.97+4951T= | |
2 | g.208124177A= | CA1323928892 | CRYGD | c.187T= (p.Tyr63=) n.97+4952A= | |
2 | g.208124177A>C | CA350092593 | CRYGD | c.187T>G (p.Tyr63Asp) n.97+4952A>C | |
2 | g.208124177A>G | CA350092595 | CRYGD | c.187T>C (p.Tyr63His) n.97+4952A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124177A>T | CA350092594 | CRYGD | c.187T>A (p.Tyr63Asn) n.97+4952A>T | |
2 | g.208124178G>A | CA430964603 | CRYGD | c.186C>T (p.Asp62=) n.97+4953G>A | |
2 | g.208124178G>C | CA350092596 | CRYGD | c.186C>G (p.Asp62Glu) n.97+4953G>C | dbSNP |
2 | g.208124178G= | CA1323928893 | CRYGD | c.186C= (p.Asp62=) n.97+4953G= | |
2 | g.208124178G>T | CA350092597 | CRYGD | c.186C>A (p.Asp62Glu) n.97+4953G>T | |
2 | g.208124179T>A | CA350092598 | CRYGD | c.185A>T (p.Asp62Val) n.97+4954T>A | |
2 | g.208124179T>C | CA350092599 | CRYGD | c.185A>G (p.Asp62Gly) n.97+4954T>C | dbSNP gnomAD v4 |
2 | g.208124179T>G | CA350092600 | CRYGD | c.185A>C (p.Asp62Ala) n.97+4954T>G | |
2 | g.208124179T= | CA1323928894 | CRYGD | c.185A= (p.Asp62=) n.97+4954T= | |
2 | g.208124180C>A | CA350092601 | CRYGD | c.184G>T (p.Asp62Tyr) n.97+4955C>A | gnomAD v4 |
2 | g.208124180C= | CA1323928895 | CRYGD | c.184G= (p.Asp62=) n.97+4955C= | |
2 | g.208124180C>G | CA350092602 | CRYGD | c.184G>C (p.Asp62His) n.97+4955C>G | gnomAD v4 |
2 | g.208124180C>T | CA2077711 | CRYGD | c.184G>A (p.Asp62Asn) n.97+4955C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.208124181G>A | CA430964606 | CRYGD | c.183C>T (p.Gly61=) n.97+4956G>A | gnomAD v4 |
2 | g.208124181G>C | CA430964605 | CRYGD | c.183C>G (p.Gly61=) n.97+4956G>C | gnomAD v4 |
2 | g.208124181G>T | CA430964604 | CRYGD | c.183C>A (p.Gly61=) n.97+4956G>T | |
2 | g.208124182C>A | CA350092603 | CRYGD | c.182G>T (p.Gly61Val) n.97+4957C>A | |
2 | g.208124182C>G | CA350092604 | CRYGD | c.182G>C (p.Gly61Ala) n.97+4957C>G | |
2 | g.208124182C>T | CA350092605 | CRYGD | c.182G>A (p.Gly61Asp) n.97+4957C>T | |
2 | g.208124183C>A | CA2077712 | CRYGD | c.181G>T (p.Gly61Cys) n.97+4958C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124183C= | CA1323928896 | CRYGD | c.181G= (p.Gly61=) n.97+4958C= | |
2 | g.208124183C>G | CA350092606 | CRYGD | c.181G>C (p.Gly61Arg) n.97+4958C>G | |
2 | g.208124183C>T | CA2077713 | CRYGD | c.181G>A (p.Gly61Ser) n.97+4958C>T | dbSNP ExAC gnomAD v2 |
2 | g.208124184G>A | CA2077714 | CRYGD | c.180C>T (p.Arg60=) n.97+4959G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208124184G>C | CA430964607 | CRYGD | c.180C>G (p.Arg60=) n.97+4959G>C | |
2 | g.208124184G= | CA1323928897 | CRYGD | c.180C= (p.Arg60=) n.97+4959G= | |
2 | g.208124184G>T | CA430964608 | CRYGD | c.180C>A (p.Arg60=) n.97+4959G>T | |
2 | g.208124185C>A | CA350092607 | CRYGD | c.179G>T (p.Arg60Leu) n.97+4960C>A | |
2 | g.208124185C= | CA1323928898 | CRYGD | c.179G= (p.Arg60=) n.97+4960C= | |
2 | g.208124185C>G | CA350092608 | CRYGD | c.179G>C (p.Arg60Pro) n.97+4960C>G | |
2 | g.208124185C>T | CA64607724 | CRYGD | c.179G>A (p.Arg60His) n.97+4960C>T | dbSNP |
2 | g.208124186G>A | CA350092609 | CRYGD | c.178C>T (p.Arg60Cys) n.97+4961G>A | gnomAD v4 |
2 | g.208124186G>C | CA350092610 | CRYGD | c.178C>G (p.Arg60Gly) n.97+4961G>C | |
2 | g.208124186G>T | CA350092611 | CRYGD | c.178C>A (p.Arg60Ser) n.97+4961G>T | |
2 | g.208124187G>A | CA430964609 | CRYGD | c.177C>T (p.Arg59=) n.97+4962G>A | dbSNP COSMIC |
2 | g.208124187G>C | CA430964611 | CRYGD | c.177C>G (p.Arg59=) n.97+4962G>C | |
2 | g.208124187G= | CA1323928899 | CRYGD | c.177C= (p.Arg59=) n.97+4962G= | |
2 | g.208124187G>T | CA430964610 | CRYGD | c.177C>A (p.Arg59=) n.97+4962G>T | |
2 | g.208124188C>A | CA350092612 | CRYGD | c.176G>T (p.Arg59Leu) n.97+4963C>A | |
2 | g.208124188C= | CA1323928900 | CRYGD | c.176G= (p.Arg59=) n.97+4963C= | |
2 | g.208124188C>G | CA350092613 | CRYGD | c.176G>C (p.Arg59Pro) n.97+4963C>G | |
2 | g.208124188C>T | CA214961 | CRYGD | c.176G>A (p.Arg59His) n.97+4963C>T | ClinVar dbSNP |
2 | g.208124189G>A | CA2077715 | CRYGD | c.175C>T (p.Arg59Cys) n.97+4964G>A | dbSNP ExAC gnomAD v4 |
2 | g.208124189G>C | CA350092614 | CRYGD | c.175C>G (p.Arg59Gly) n.97+4964G>C | gnomAD v4 |
2 | g.208124189G= | CA1323928901 | CRYGD | c.175C= (p.Arg59=) n.97+4964G= | |
2 | g.208124189G>T | CA350092615 | CRYGD | c.175C>A (p.Arg59Ser) n.97+4964G>T | gnomAD v4 |
2 | g.208124190C>A | CA430964612 | CRYGD | c.174G>T (p.Leu58=) n.97+4965C>A | |
2 | g.208124190C>G | CA430964613 | CRYGD | c.174G>C (p.Leu58=) n.97+4965C>G | |
2 | g.208124190C>T | CA430964614 | CRYGD | c.174G>A (p.Leu58=) n.97+4965C>T | |
2 | g.208124191A= | CA1323928902 | CRYGD | c.173T= (p.Leu58=) n.97+4966A= | |
2 | g.208124191A>C | CA2077716 | CRYGD | c.173T>G (p.Leu58Arg) n.97+4966A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208124191A>G | CA350092617 | CRYGD | c.173T>C (p.Leu58Pro) n.97+4966A>G | |
2 | g.208124191A>T | CA350092616 | CRYGD | c.173T>A (p.Leu58Gln) n.97+4966A>T | |
2 | g.208124192G>A | CA430964615 | CRYGD | c.172C>T (p.Leu58=) n.97+4967G>A | COSMIC |
2 | g.208124192G>C | CA350092618 | CRYGD | c.172C>G (p.Leu58Val) n.97+4967G>C | |
2 | g.208124192G>T | CA350092619 | CRYGD | c.172C>A (p.Leu58Met) n.97+4967G>T | |
2 | g.208124193G>A | CA430964616 | CRYGD | c.171C>T (p.Phe57=) n.97+4968G>A | dbSNP |
2 | g.208124193G>C | CA350092620 | CRYGD | c.171C>G (p.Phe57Leu) n.97+4968G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208124193G= | CA1323928903 | CRYGD | c.171C= (p.Phe57=) n.97+4968G= | |
2 | g.208124193G>T | CA350092621 | CRYGD | c.171C>A (p.Phe57Leu) n.97+4968G>T | gnomAD v4 |
2 | g.208124194A>C | CA350092622 | CRYGD | c.170T>G (p.Phe57Cys) n.97+4969A>C | |
2 | g.208124194A>G | CA350092623 | CRYGD | c.170T>C (p.Phe57Ser) n.97+4969A>G | gnomAD v4 |
2 | g.208124194A>T | CA350092624 | CRYGD | c.170T>A (p.Phe57Tyr) n.97+4969A>T | gnomAD v4 |
2 | g.208124195A>C | CA350092625 | CRYGD | c.169T>G (p.Phe57Val) n.97+4970A>C | |
2 | g.208124195A>G | CA350092626 | CRYGD | c.169T>C (p.Phe57Leu) n.97+4970A>G | gnomAD v4 |
2 | g.208124195A>T | CA350092627 | CRYGD | c.169T>A (p.Phe57Ile) n.97+4970A>T | |
2 | g.208124196G>A | CA430964617 | CRYGD | c.168C>T (p.Tyr56=) n.97+4971G>A | |
2 | g.208124196G>C | CA2077717 | CRYGD | c.168C>G (p.Tyr56Ter) n.97+4971G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124196G= | CA1323928904 | CRYGD | c.168C= (p.Tyr56=) n.97+4971G= | |
2 | g.208124196G>T | CA350092628 | CRYGD | c.168C>A (p.Tyr56Ter) n.97+4971G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124197T>A | CA350092629 | CRYGD | c.167A>T (p.Tyr56Phe) n.97+4972T>A | |
2 | g.208124197T>C | CA350092631 | CRYGD | c.167A>G (p.Tyr56Cys) n.97+4972T>C | |
2 | g.208124197T>G | CA350092630 | CRYGD | c.167A>C (p.Tyr56Ser) n.97+4972T>G | |
2 | g.208124198_208124200dup | CA2077718 | CRYGD | c.165_167dup (p.Tyr56Ter) n.97+4973_97+4975dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124198A>C | CA350092632 | CRYGD | c.166T>G (p.Tyr56Asp) n.97+4973A>C | |
2 | g.208124198A>G | CA350092633 | CRYGD | c.166T>C (p.Tyr56His) n.97+4973A>G | |
2 | g.208124198A>T | CA350092634 | CRYGD | c.166T>A (p.Tyr56Asn) n.97+4973A>T | |
2 | g.208124199C>A | CA350092635 | CRYGD | c.165G>T (p.Gln55His) n.97+4974C>A | |
2 | g.208124199C>G | CA350092636 | CRYGD | c.165G>C (p.Gln55His) n.97+4974C>G | gnomAD v4 |
2 | g.208124199C>T | CA430964618 | CRYGD | c.165G>A (p.Gln55=) n.97+4974C>T | |
2 | g.208124200T>A | CA350092637 | CRYGD | c.164A>T (p.Gln55Leu) n.97+4975T>A | |
2 | g.208124200T>C | CA2077719 | CRYGD | c.164A>G (p.Gln55Arg) n.97+4975T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208124200T>G | CA350092638 | CRYGD | c.164A>C (p.Gln55Pro) n.97+4975T>G | |
2 | g.208124200T= | CA1323928905 | CRYGD | c.164A= (p.Gln55=) n.97+4975T= | |
2 | g.208124201G>A | CA350092639 | CRYGD | c.163C>T (p.Gln55Ter) n.97+4976G>A | |
2 | g.208124201G>C | CA350092640 | CRYGD | c.163C>G (p.Gln55Glu) n.97+4976G>C | gnomAD v4 |
2 | g.208124201G>T | CA350092641 | CRYGD | c.163C>A (p.Gln55Lys) n.97+4976G>T | |
2 | g.208124203_208124205del | CA2697550357 | CRYGD | c.161_163del (p.Leu54del) n.97+4978_97+4980del | ClinVar |
2 | g.208124202G>A | CA430964621 | CRYGD | c.162C>T (p.Leu54=) n.97+4977G>A | |
2 | g.208124202G>C | CA430964619 | CRYGD | c.162C>G (p.Leu54=) n.97+4977G>C | |
2 | g.208124202G>T | CA430964620 | CRYGD | c.162C>A (p.Leu54=) n.97+4977G>T | |
2 | g.208124203del | CA2662867757 | CRYGD | c.161del (p.Leu54ProfsTer?) n.97+4978del | gnomAD v4 |
2 | g.208124203A>C | CA350092644 | CRYGD | c.161T>G (p.Leu54Arg) n.97+4978A>C | |
2 | g.208124203A>G | CA350092643 | CRYGD | c.161T>C (p.Leu54Pro) n.97+4978A>G | gnomAD v4 |
2 | g.208124203A>T | CA350092642 | CRYGD | c.161T>A (p.Leu54His) n.97+4978A>T | |
2 | g.208124204G>A | CA350092645 | CRYGD | c.160C>T (p.Leu54Phe) n.97+4979G>A | |
2 | g.208124204G>C | CA350092647 | CRYGD | c.160C>G (p.Leu54Val) n.97+4979G>C | |
2 | g.208124204G>T | CA350092646 | CRYGD | c.160C>A (p.Leu54Ile) n.97+4979G>T | |
2 | g.208124205G>A | CA430964622 | CRYGD | c.159C>T (p.Gly53=) n.97+4980G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208124205G>C | CA430964623 | CRYGD | c.159C>G (p.Gly53=) n.97+4980G>C | |
2 | g.208124205G= | CA1323928906 | CRYGD | c.159C= (p.Gly53=) n.97+4980G= | |
2 | g.208124205G>T | CA430964624 | CRYGD | c.159C>A (p.Gly53=) n.97+4980G>T | |
2 | g.208124206C>A | CA350092648 | CRYGD | c.158G>T (p.Gly53Val) n.97+4981C>A | |
2 | g.208124206C= | CA1323928907 | CRYGD | c.158G= (p.Gly53=) n.97+4981C= | |
2 | g.208124206C>G | CA350092649 | CRYGD | c.158G>C (p.Gly53Ala) n.97+4981C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208124206C>T | CA350092650 | CRYGD | c.158G>A (p.Gly53Asp) n.97+4981C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124208dup | CA763924614 | CRYGD | c.158dup (p.Leu54ProfsTer?) n.97+4983dup | dbSNP |
2 | g.208124207C>A | CA350092651 | CRYGD | c.157G>T (p.Gly53Cys) n.97+4982C>A | |
2 | g.208124207C>G | CA350092652 | CRYGD | c.157G>C (p.Gly53Arg) n.97+4982C>G | |
2 | g.208124207C>T | CA350092653 | CRYGD | c.157G>A (p.Gly53Ser) n.97+4982C>T | |
2 | g.208124208C>A | CA430964626 | CRYGD | c.156G>T (p.Ser52=) n.97+4983C>A | |
2 | g.208124208C= | CA1323928908 | CRYGD | c.156G= (p.Ser52=) n.97+4983C= | |
2 | g.208124208C>G | CA430964625 | CRYGD | c.156G>C (p.Ser52=) n.97+4983C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124208C>T | CA2077720 | CRYGD | c.156G>A (p.Ser52=) n.97+4983C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208124209G>A | CA350092654 | CRYGD | c.155C>T (p.Ser52Leu) n.97+4984G>A | gnomAD v4 |
2 | g.208124209G>C | CA2077721 | CRYGD | c.155C>G (p.Ser52Trp) n.97+4984G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.208124209G= | CA1323928909 | CRYGD | c.155C= (p.Ser52=) n.97+4984G= | |
2 | g.208124209G>T | CA350092655 | CRYGD | c.155C>A (p.Ser52Ter) n.97+4984G>T | |
2 | g.208124210A>C | CA350092656 | CRYGD | c.154T>G (p.Ser52Ala) n.97+4985A>C | gnomAD v4 |
2 | g.208124210A>G | CA350092657 | CRYGD | c.154T>C (p.Ser52Pro) n.97+4985A>G | ClinVar |
2 | g.208124210A>T | CA350092658 | CRYGD | c.154T>A (p.Ser52Thr) n.97+4985A>T | |
2 | g.208124211G>A | CA2077722 | CRYGD | c.153C>T (p.Tyr51=) n.97+4986G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124211G>C | CA350092660 | CRYGD | c.153C>G (p.Tyr51Ter) n.97+4986G>C | gnomAD v4 COSMIC |
2 | g.208124211G= | CA1323928910 | CRYGD | c.153C= (p.Tyr51=) n.97+4986G= | |
2 | g.208124211G>T | CA350092659 | CRYGD | c.153C>A (p.Tyr51Ter) n.97+4986G>T | |
2 | g.208124212T>A | CA350092661 | CRYGD | c.152A>T (p.Tyr51Phe) n.97+4987T>A | |
2 | g.208124212T>C | CA350092662 | CRYGD | c.152A>G (p.Tyr51Cys) n.97+4987T>C | |
2 | g.208124212T>G | CA350092663 | CRYGD | c.152A>C (p.Tyr51Ser) n.97+4987T>G | dbSNP |
2 | g.208124212T= | CA1323928911 | CRYGD | c.152A= (p.Tyr51=) n.97+4987T= | |
2 | g.208124212dup | CA2077723 | CRYGD | c.152dup (p.Tyr51Ter) n.97+4987dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124213A>C | CA350092664 | CRYGD | c.151T>G (p.Tyr51Asp) n.97+4988A>C | |
2 | g.208124213A>G | CA350092665 | CRYGD | c.151T>C (p.Tyr51His) n.97+4988A>G | |
2 | g.208124213A>T | CA350092666 | CRYGD | c.151T>A (p.Tyr51Asn) n.97+4988A>T | |
2 | g.208124214G>A | CA430964628 | CRYGD | c.150C>T (p.Asn50=) n.97+4989G>A | |
2 | g.208124214G>C | CA350092667 | CRYGD | c.150C>G (p.Asn50Lys) n.97+4989G>C | gnomAD v4 |
2 | g.208124214G= | CA1323928912 | CRYGD | c.150C= (p.Asn50=) n.97+4989G= | |
2 | g.208124214G>T | CA2077724 | CRYGD | c.150C>A (p.Asn50Lys) n.97+4989G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124215T>A | CA350092670 | CRYGD | c.149A>T (p.Asn50Ile) n.97+4990T>A | |
2 | g.208124215T>C | CA350092669 | CRYGD | c.149A>G (p.Asn50Ser) n.97+4990T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124215T>G | CA350092668 | CRYGD | c.149A>C (p.Asn50Thr) n.97+4990T>G | |
2 | g.208124215T= | CA1323928913 | CRYGD | c.149A= (p.Asn50=) n.97+4990T= | |
2 | g.208124216T>A | CA350092671 | CRYGD | c.148A>T (p.Asn50Tyr) n.97+4991T>A | |
2 | g.208124216T>C | CA350092672 | CRYGD | c.148A>G (p.Asn50Asp) n.97+4991T>C | dbSNP |
2 | g.208124216T>G | CA350092673 | CRYGD | c.148A>C (p.Asn50His) n.97+4991T>G | |
2 | g.208124216T= | CA1323928914 | CRYGD | c.148A= (p.Asn50=) n.97+4991T= | |
2 | g.208124217G>A | CA430964629 | CRYGD | c.147C>T (p.Pro49=) n.97+4992G>A | |
2 | g.208124217G>C | CA430964630 | CRYGD | c.147C>G (p.Pro49=) n.97+4992G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208124217G= | CA1323928915 | CRYGD | c.147C= (p.Pro49=) n.97+4992G= | |
2 | g.208124217G>T | CA430964631 | CRYGD | c.147C>A (p.Pro49=) n.97+4992G>T | gnomAD v4 |
2 | g.208124218G>A | CA350092674 | CRYGD | c.146C>T (p.Pro49Leu) n.97+4993G>A | |
2 | g.208124218G>C | CA350092675 | CRYGD | c.146C>G (p.Pro49Arg) n.97+4993G>C | gnomAD v4 |
2 | g.208124218G>T | CA350092676 | CRYGD | c.146C>A (p.Pro49His) n.97+4993G>T | |
2 | g.208124219G>A | CA350092679 | CRYGD | c.145C>T (p.Pro49Ser) n.97+4994G>A | |
2 | g.208124219G>C | CA350092677 | CRYGD | c.145C>G (p.Pro49Ala) n.97+4994G>C | |
2 | g.208124219G>T | CA350092678 | CRYGD | c.145C>A (p.Pro49Thr) n.97+4994G>T | |
2 | g.208124220C>A | CA350092680 | CRYGD | c.144G>T (p.Gln48His) n.97+4995C>A | |
2 | g.208124220C>G | CA350092681 | CRYGD | c.144G>C (p.Gln48His) n.97+4995C>G | |
2 | g.208124220C>T | CA430964632 | CRYGD | c.144G>A (p.Gln48=) n.97+4995C>T | gnomAD v4 |
2 | g.208124220_208124221delinsCT | CA1323928916 | CRYGD | c.143_144delinsAG (p.Gln48=) n.97+4995_97+4996delinsCT | |
2 | g.208124221del | CA539389073 | CRYGD | c.143del (p.Gln48ArgfsTer?) n.97+4996del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124221T>A | CA350092682 | CRYGD | c.143A>T (p.Gln48Leu) n.97+4996T>A | |
2 | g.208124221T>C | CA350092683 | CRYGD | c.143A>G (p.Gln48Arg) n.97+4996T>C | gnomAD v4 |
2 | g.208124221T>G | CA350092684 | CRYGD | c.143A>C (p.Gln48Pro) n.97+4996T>G | |
2 | g.208124222G>A | CA350092685 | CRYGD | c.142C>T (p.Gln48Ter) n.97+4997G>A | |
2 | g.208124222G>C | CA350092687 | CRYGD | c.142C>G (p.Gln48Glu) n.97+4997G>C | |
2 | g.208124222G>T | CA350092686 | CRYGD | c.142C>A (p.Gln48Lys) n.97+4997G>T | |
2 | g.208124223C>A | CA350092688 | CRYGD | c.141G>T (p.Glu47Asp) n.97+4998C>A | |
2 | g.208124223C= | CA1323928917 | CRYGD | c.141G= (p.Glu47=) n.97+4998C= | |
2 | g.208124223C>G | CA350092689 | CRYGD | c.141G>C (p.Glu47Asp) n.97+4998C>G | dbSNP |
2 | g.208124223C>T | CA430964633 | CRYGD | c.141G>A (p.Glu47=) n.97+4998C>T | |
2 | g.208124224T>A | CA350092690 | CRYGD | c.140A>T (p.Glu47Val) n.97+4999T>A | |
2 | g.208124224T>C | CA350092691 | CRYGD | c.140A>G (p.Glu47Gly) n.97+4999T>C | gnomAD v4 |
2 | g.208124224T>G | CA350092692 | CRYGD | c.140A>C (p.Glu47Ala) n.97+4999T>G | |
2 | g.208124225C>A | CA350092693 | CRYGD | c.139G>T (p.Glu47Ter) n.97+5000C>A | |
2 | g.208124225C= | CA1323928918 | CRYGD | c.139G= (p.Glu47=) n.97+5000C= | |
2 | g.208124225C>G | CA350092694 | CRYGD | c.139G>C (p.Glu47Gln) n.97+5000C>G | |
2 | g.208124225C>T | CA350092695 | CRYGD | c.139G>A (p.Glu47Lys) n.97+5000C>T | dbSNP |
2 | g.208124226A= | CA1323928919 | CRYGD | c.138T= (p.Tyr46=) n.97+5001A= | |
2 | g.208124226A>C | CA350092696 | CRYGD | c.138T>G (p.Tyr46Ter) n.97+5001A>C | |
2 | g.208124226A>G | CA430964634 | CRYGD | c.138T>C (p.Tyr46=) n.97+5001A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208124226A>T | CA350092697 | CRYGD | c.138T>A (p.Tyr46Ter) n.97+5001A>T | |
2 | g.208124227T>A | CA350092699 | CRYGD | c.137A>T (p.Tyr46Phe) n.97+5002T>A | COSMIC |
2 | g.208124227T>C | CA2077725 | CRYGD | c.137A>G (p.Tyr46Cys) n.97+5002T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208124227T>G | CA350092698 | CRYGD | c.137A>C (p.Tyr46Ser) n.97+5002T>G | |
2 | g.208124227T= | CA1323928920 | CRYGD | c.137A= (p.Tyr46=) n.97+5002T= |