UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.47554621G>A | CA3843993 | CD2AP | c.421-25G>A (n.421-25G>A) c.274-25G>A (n.274-25G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47554621G>C | CA825293328 | CD2AP | c.421-25G>C (n.421-25G>C) c.274-25G>C (n.274-25G>C) | dbSNP |
| 6 | g.47554621G= | CA1626449039 | CD2AP | c.421-25G= (n.421-25G=) c.274-25G= (n.274-25G=) | |
| 6 | g.47554621G>T | CA2580593078 | CD2AP | c.421-25G>T (n.421-25G>T) c.274-25G>T (n.274-25G>T) | |
| 6 | g.47554622C>T | CA2770947309 | CD2AP | c.421-24C>T (n.421-24C>T) c.274-24C>T (n.274-24C>T) | |
| 6 | g.47554622_47554623delinsCT | CA1626449044 | CD2AP | c.421-24_421-23delinsCT (n.421-24_421-23delinsCT) c.274-24_274-23delinsCT (n.274-24_274-23delinsCT) | |
| 6 | g.47554626del | CA1626449046 | CD2AP | c.421-20del (n.421-20del) c.274-20del (n.274-20del) | dbSNP |
| 6 | g.47554626T>C | CA2679025523 | CD2AP | c.421-20T>C (n.421-20T>C) c.274-20T>C (n.274-20T>C) | gnomAD v4 |
| 6 | g.47554629A>G | CA2679025524 | CD2AP | c.421-17A>G (n.421-17A>G) c.274-17A>G (n.274-17A>G) | gnomAD v4 |
| 6 | g.47554631T>G | CA3843994 | CD2AP | c.421-15T>G (n.421-15T>G) c.274-15T>G (n.274-15T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.47554631T= | CA1626449050 | CD2AP | c.421-15T= (n.421-15T=) c.274-15T= (n.274-15T=) | |
| 6 | g.47554634G>A | CA137926227 | CD2AP | c.421-12G>A (n.421-12G>A) c.274-12G>A (n.274-12G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.47554634G= | CA1626449053 | CD2AP | c.421-12G= (n.421-12G=) c.274-12G= (n.274-12G=) | |
| 6 | g.47554634G>T | CA2679025525 | CD2AP | c.421-12G>T (n.421-12G>T) c.274-12G>T (n.274-12G>T) | gnomAD v4 |
| 6 | g.47554638T>A | CA2679025526 | CD2AP | c.421-8T>A (n.421-8T>A) c.274-8T>A (n.274-8T>A) | gnomAD v4 |
| 6 | g.47554638T>C | CA2770947310 | CD2AP | c.421-8T>C (n.421-8T>C) c.274-8T>C (n.274-8T>C) | |
| 6 | g.47554638T>G | CA3843995 | CD2AP | c.421-8T>G (n.421-8T>G) c.274-8T>G (n.274-8T>G) | dbSNP ExAC gnomAD v4 |
| 6 | g.47554638T= | CA1626449054 | CD2AP | c.421-8T= (n.421-8T=) c.274-8T= (n.274-8T=) | |
| 6 | g.47554641T>C | CA137926234 | CD2AP | c.421-5T>C (n.421-5T>C) c.274-5T>C (n.274-5T>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.47554641T= | CA1626449059 | CD2AP | c.421-5T= (n.421-5T=) c.274-5T= (n.274-5T=) | |
| 6 | g.47554644A>C | CA363939483 | CD2AP | c.421-2A>C (n.421-2A>C) c.274-2A>C (n.274-2A>C) | |
| 6 | g.47554644A>G | CA363939482 | CD2AP | c.421-2A>G (n.421-2A>G) c.274-2A>G (n.274-2A>G) | |
| 6 | g.47554644A>T | CA363939480 | CD2AP | c.421-2A>T (n.421-2A>T) c.274-2A>T (n.274-2A>T) | |
| 6 | g.47554645G>A | CA363939486 | CD2AP | c.421-1G>A (n.421-1G>A) c.274-1G>A (n.274-1G>A) | |
| 6 | g.47554645G>C | CA363939487 | CD2AP | c.421-1G>C (n.421-1G>C) c.274-1G>C (n.274-1G>C) | |
| 6 | g.47554645G>T | CA363939488 | CD2AP | c.421-1G>T (n.421-1G>T) c.274-1G>T (n.274-1G>T) | COSMIC |
| 6 | g.47554646G>A | CA363939490 | CD2AP | c.421G>A (p.Val141Ile) c.274G>A (p.Val92Ile) | |
| 6 | g.47554646G>C | CA363939492 | CD2AP | c.421G>C (p.Val141Leu) c.274G>C (p.Val92Leu) | |
| 6 | g.47554646G>T | CA363939494 | CD2AP | c.421G>T (p.Val141Leu) c.274G>T (p.Val92Leu) | |
| 6 | g.47554647T>A | CA363939495 | CD2AP | c.422T>A (p.Val141Glu) c.275T>A (p.Val92Glu) | |
| 6 | g.47554647T>C | CA3843996 | CD2AP | c.422T>C (p.Val141Ala) c.275T>C (p.Val92Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.47554647T>G | CA363939497 | CD2AP | c.422T>G (p.Val141Gly) c.275T>G (p.Val92Gly) | |
| 6 | g.47554647T= | CA1626449064 | CD2AP | c.422T= (p.Val141=) c.275T= (p.Val92=) | |
| 6 | g.47554647dup | CA2679025527 | CD2AP | c.422dup (p.Glu142ArgfsTer11) c.275dup (p.Glu93ArgfsTer11) | gnomAD v4 |
| 6 | g.47554648A>C | CA450398642 | CD2AP | c.423A>C (p.Val141=) c.276A>C (p.Val92=) | |
| 6 | g.47554648A>G | CA450398647 | CD2AP | c.423A>G (p.Val141=) c.276A>G (p.Val92=) | gnomAD v4 |
| 6 | g.47554648A>T | CA450398644 | CD2AP | c.423A>T (p.Val141=) c.276A>T (p.Val92=) | |
| 6 | g.47554653_47554655del | CA645565439 | CD2AP | c.428_430del (p.Glu143del) c.281_283del (p.Glu94del) | COSMIC |
| 6 | g.47554649G>A | CA363939499 | CD2AP | c.424G>A (p.Glu142Lys) c.277G>A (p.Glu93Lys) | |
| 6 | g.47554649G>C | CA363939500 | CD2AP | c.424G>C (p.Glu142Gln) c.277G>C (p.Glu93Gln) | |
| 6 | g.47554649G>T | CA363939502 | CD2AP | c.424G>T (p.Glu142Ter) c.277G>T (p.Glu93Ter) | |
| 6 | g.47554650A>C | CA363939507 | CD2AP | c.425A>C (p.Glu142Ala) c.278A>C (p.Glu93Ala) | |
| 6 | g.47554650A>G | CA363939505 | CD2AP | c.425A>G (p.Glu142Gly) c.278A>G (p.Glu93Gly) | |
| 6 | g.47554650A>T | CA363939504 | CD2AP | c.425A>T (p.Glu142Val) c.278A>T (p.Glu93Val) | |
| 6 | g.47554651A>C | CA363939509 | CD2AP | c.426A>C (p.Glu142Asp) c.279A>C (p.Glu93Asp) | |
| 6 | g.47554651A>G | CA450398656 | CD2AP | c.426A>G (p.Glu142=) c.279A>G (p.Glu93=) | gnomAD v4 |
| 6 | g.47554651A>T | CA363939510 | CD2AP | c.426A>T (p.Glu142Asp) c.279A>T (p.Glu93Asp) | |
| 6 | g.47554652G>A | CA363939512 | CD2AP | c.427G>A (p.Glu143Lys) c.280G>A (p.Glu94Lys) | gnomAD v4 |
| 6 | g.47554652G>C | CA363939514 | CD2AP | c.427G>C (p.Glu143Gln) c.280G>C (p.Glu94Gln) | |
| 6 | g.47554652G>T | CA363939515 | CD2AP | c.427G>T (p.Glu143Ter) c.280G>T (p.Glu94Ter) | |
| 6 | g.47554653A= | CA1626449068 | CD2AP | c.428A= (p.Glu143=) c.281A= (p.Glu94=) | |
| 6 | g.47554653A>C | CA363939517 | CD2AP | c.428A>C (p.Glu143Ala) c.281A>C (p.Glu94Ala) | |
| 6 | g.47554653A>G | CA3843997 | CD2AP | c.428A>G (p.Glu143Gly) c.281A>G (p.Glu94Gly) | ClinVar dbSNP ExAC gnomAD v4 |
| 6 | g.47554653A>T | CA363939519 | CD2AP | c.428A>T (p.Glu143Val) c.281A>T (p.Glu94Val) | |
| 6 | g.47554654A= | CA1626449072 | CD2AP | c.429A= (p.Glu143=) c.282A= (p.Glu94=) | |
| 6 | g.47554654A>C | CA3843998 | CD2AP | c.429A>C (p.Glu143Asp) c.282A>C (p.Glu94Asp) | ClinVar dbSNP ExAC gnomAD v4 |
| 6 | g.47554654A>G | CA450398666 | CD2AP | c.429A>G (p.Glu143=) c.282A>G (p.Glu94=) | |
| 6 | g.47554654A>T | CA363939521 | CD2AP | c.429A>T (p.Glu143Asp) c.282A>T (p.Glu94Asp) | |
| 6 | g.47554655G>A | CA363939523 | CD2AP | c.430G>A (p.Gly144Ser) c.283G>A (p.Gly95Ser) | |
| 6 | g.47554655G>C | CA363939525 | CD2AP | c.430G>C (p.Gly144Arg) c.283G>C (p.Gly95Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.47554655G= | CA1626449078 | CD2AP | c.430G= (p.Gly144=) c.283G= (p.Gly95=) | |
| 6 | g.47554655G>T | CA363939526 | CD2AP | c.430G>T (p.Gly144Cys) c.283G>T (p.Gly95Cys) | |
| 6 | g.47554656G>A | CA363939531 | CD2AP | c.431G>A (p.Gly144Asp) c.284G>A (p.Gly95Asp) | |
| 6 | g.47554656G>C | CA363939528 | CD2AP | c.431G>C (p.Gly144Ala) c.284G>C (p.Gly95Ala) | |
| 6 | g.47554656G>T | CA363939530 | CD2AP | c.431G>T (p.Gly144Val) c.284G>T (p.Gly95Val) | |
| 6 | g.47554657C>A | CA450398672 | CD2AP | c.432C>A (p.Gly144=) c.285C>A (p.Gly95=) | |
| 6 | g.47554657C>G | CA450398674 | CD2AP | c.432C>G (p.Gly144=) c.285C>G (p.Gly95=) | |
| 6 | g.47554657C>T | CA450398675 | CD2AP | c.432C>T (p.Gly144=) c.285C>T (p.Gly95=) | |
| 6 | g.47554658T>A | CA363939533 | CD2AP | c.433T>A (p.Trp145Arg) c.286T>A (p.Trp96Arg) | |
| 6 | g.47554658T>C | CA363939534 | CD2AP | c.433T>C (p.Trp145Arg) c.286T>C (p.Trp96Arg) | |
| 6 | g.47554658T>G | CA363939535 | CD2AP | c.433T>G (p.Trp145Gly) c.286T>G (p.Trp96Gly) | |
| 6 | g.47554659G>A | CA363939537 | CD2AP | c.434G>A (p.Trp145Ter) c.287G>A (p.Trp96Ter) | gnomAD v4 |
| 6 | g.47554659G>C | CA363939539 | CD2AP | c.434G>C (p.Trp145Ser) c.287G>C (p.Trp96Ser) | dbSNP gnomAD v4 |
| 6 | g.47554659G= | CA1626449081 | CD2AP | c.434G= (p.Trp145=) c.287G= (p.Trp96=) | |
| 6 | g.47554659G>T | CA363939540 | CD2AP | c.434G>T (p.Trp145Leu) c.287G>T (p.Trp96Leu) | |
| 6 | g.47554660G>A | CA363939541 | CD2AP | c.435G>A (p.Trp145Ter) c.288G>A (p.Trp96Ter) | gnomAD v4 |
| 6 | g.47554660G>C | CA363939542 | CD2AP | c.435G>C (p.Trp145Cys) c.288G>C (p.Trp96Cys) | |
| 6 | g.47554660G>T | CA363939544 | CD2AP | c.435G>T (p.Trp145Cys) c.288G>T (p.Trp96Cys) | |
| 6 | g.47554661T>A | CA363939545 | CD2AP | c.436T>A (p.Trp146Arg) c.289T>A (p.Trp97Arg) | |
| 6 | g.47554661T>C | CA363939546 | CD2AP | c.436T>C (p.Trp146Arg) c.289T>C (p.Trp97Arg) | |
| 6 | g.47554661T>G | CA363939547 | CD2AP | c.436T>G (p.Trp146Gly) c.289T>G (p.Trp97Gly) | |
| 6 | g.47554662G>A | CA363939550 | CD2AP | c.437G>A (p.Trp146Ter) c.290G>A (p.Trp97Ter) | gnomAD v4 |
| 6 | g.47554662G>C | CA363939552 | CD2AP | c.437G>C (p.Trp146Ser) c.290G>C (p.Trp97Ser) | |
| 6 | g.47554662G>T | CA363939549 | CD2AP | c.437G>T (p.Trp146Leu) c.290G>T (p.Trp97Leu) | |
| 6 | g.47554663G>A | CA363939554 | CD2AP | c.438G>A (p.Trp146Ter) c.291G>A (p.Trp97Ter) | |
| 6 | g.47554663G>C | CA363939553 | CD2AP | c.438G>C (p.Trp146Cys) c.291G>C (p.Trp97Cys) | |
| 6 | g.47554663G>T | CA363939556 | CD2AP | c.438G>T (p.Trp146Cys) c.291G>T (p.Trp97Cys) | |
| 6 | g.47554664A= | CA1626449087 | CD2AP | c.439A= (p.Ser147=) c.292A= (p.Ser98=) | |
| 6 | g.47554664A>C | CA363939558 | CD2AP | c.439A>C (p.Ser147Arg) c.292A>C (p.Ser98Arg) | |
| 6 | g.47554664A>G | CA3843999 | CD2AP | c.439A>G (p.Ser147Gly) c.292A>G (p.Ser98Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47554664A>T | CA363939560 | CD2AP | c.439A>T (p.Ser147Cys) c.292A>T (p.Ser98Cys) | |
| 6 | g.47554665G>A | CA363939563 | CD2AP | c.440G>A (p.Ser147Asn) c.293G>A (p.Ser98Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.47554665G>C | CA363939565 | CD2AP | c.440G>C (p.Ser147Thr) c.293G>C (p.Ser98Thr) | |
| 6 | g.47554665G= | CA1626449095 | CD2AP | c.440G= (p.Ser147=) c.293G= (p.Ser98=) | |
| 6 | g.47554665G>T | CA363939564 | CD2AP | c.440G>T (p.Ser147Ile) c.293G>T (p.Ser98Ile) | |
| 6 | g.47554666T>A | CA363939567 | CD2AP | c.441T>A (p.Ser147Arg) c.294T>A (p.Ser98Arg) | |
| 6 | g.47554666T>C | CA450398703 | CD2AP | c.441T>C (p.Ser147=) c.294T>C (p.Ser98=) | gnomAD v4 |
| 6 | g.47554666T>G | CA363939568 | CD2AP | c.441T>G (p.Ser147Arg) c.294T>G (p.Ser98Arg) | |
| 6 | g.47554667G>A | CA363939570 | CD2AP | c.442G>A (p.Gly148Arg) c.295G>A (p.Gly99Arg) | |
| 6 | g.47554667G>C | CA363939572 | CD2AP | c.442G>C (p.Gly148Arg) c.295G>C (p.Gly99Arg) | |
| 6 | g.47554667G>T | CA363939573 | CD2AP | c.442G>T (p.Gly148Ter) c.295G>T (p.Gly99Ter) | |
| 6 | g.47554668G>A | CA363939575 | CD2AP | c.443G>A (p.Gly148Glu) c.296G>A (p.Gly99Glu) | |
| 6 | g.47554668G>C | CA363939577 | CD2AP | c.443G>C (p.Gly148Ala) c.296G>C (p.Gly99Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.47554668G= | CA1626449099 | CD2AP | c.443G= (p.Gly148=) c.296G= (p.Gly99=) | |
| 6 | g.47554668G>T | CA363939578 | CD2AP | c.443G>T (p.Gly148Val) c.296G>T (p.Gly99Val) | |
| 6 | g.47554669A>C | CA450398713 | CD2AP | c.444A>C (p.Gly148=) c.297A>C (p.Gly99=) | |
| 6 | g.47554669A>G | CA450398717 | CD2AP | c.444A>G (p.Gly148=) c.297A>G (p.Gly99=) | |
| 6 | g.47554669A>T | CA450398715 | CD2AP | c.444A>T (p.Gly148=) c.297A>T (p.Gly99=) | |
| 6 | g.47554670A>C | CA363939579 | CD2AP | c.445A>C (p.Thr149Pro) c.298A>C (p.Thr100Pro) | |
| 6 | g.47554670A>G | CA363939581 | CD2AP | c.445A>G (p.Thr149Ala) c.298A>G (p.Thr100Ala) | |
| 6 | g.47554670A>T | CA363939583 | CD2AP | c.445A>T (p.Thr149Ser) c.298A>T (p.Thr100Ser) | |
| 6 | g.47554671C>A | CA363939584 | CD2AP | c.446C>A (p.Thr149Asn) c.299C>A (p.Thr100Asn) | dbSNP gnomAD v4 |
| 6 | g.47554671C>G | CA363939586 | CD2AP | c.446C>G (p.Thr149Ser) c.299C>G (p.Thr100Ser) | |
| 6 | g.47554671C>T | CA363939587 | CD2AP | c.446C>T (p.Thr149Ile) c.299C>T (p.Thr100Ile) | gnomAD v4 |
| 6 | g.47554672C>A | CA450398725 | CD2AP | c.447C>A (p.Thr149=) c.300C>A (p.Thr100=) | |
| 6 | g.47554672C= | CA1626449104 | CD2AP | c.447C= (p.Thr149=) c.300C= (p.Thr100=) | |
| 6 | g.47554672C>G | CA450398727 | CD2AP | c.447C>G (p.Thr149=) c.300C>G (p.Thr100=) | gnomAD v4 |
| 6 | g.47554672C>T | CA3844000 | CD2AP | c.447C>T (p.Thr149=) c.300C>T (p.Thr100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47554673C>A | CA363939589 | CD2AP | c.448C>A (p.Leu150Met) c.301C>A (p.Leu101Met) | |
| 6 | g.47554673C= | CA1626449108 | CD2AP | c.448C= (p.Leu150=) c.301C= (p.Leu101=) | |
| 6 | g.47554673C>G | CA363939591 | CD2AP | c.448C>G (p.Leu150Val) c.301C>G (p.Leu101Val) | dbSNP |
| 6 | g.47554673C>T | CA3844001 | CD2AP | c.448C>T (p.Leu150=) c.301C>T (p.Leu101=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47554674T>A | CA363939593 | CD2AP | c.449T>A (p.Leu150Gln) c.302T>A (p.Leu101Gln) | |
| 6 | g.47554674T>C | CA363939594 | CD2AP | c.449T>C (p.Leu150Pro) c.302T>C (p.Leu101Pro) | dbSNP |
| 6 | g.47554674T>G | CA363939596 | CD2AP | c.449T>G (p.Leu150Arg) c.302T>G (p.Leu101Arg) | |
| 6 | g.47554674T= | CA1626449112 | CD2AP | c.449T= (p.Leu150=) c.302T= (p.Leu101=) | |
| 6 | g.47554675G>A | CA450398736 | CD2AP | c.450G>A (p.Leu150=) c.303G>A (p.Leu101=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.47554675G>C | CA450398738 | CD2AP | c.450G>C (p.Leu150=) c.303G>C (p.Leu101=) | |
| 6 | g.47554675G= | CA1626449116 | CD2AP | c.450G= (p.Leu150=) c.303G= (p.Leu101=) | |
| 6 | g.47554675G>T | CA450398740 | CD2AP | c.450G>T (p.Leu150=) c.303G>T (p.Leu101=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.47554676A= | CA1626449120 | CD2AP | c.451A= (p.Asn151=) c.304A= (p.Asn102=) | |
| 6 | g.47554676A>C | CA363939598 | CD2AP | c.451A>C (p.Asn151His) c.304A>C (p.Asn102His) | dbSNP |
| 6 | g.47554676A>G | CA363939600 | CD2AP | c.451A>G (p.Asn151Asp) c.304A>G (p.Asn102Asp) | |
| 6 | g.47554676A>T | CA363939601 | CD2AP | c.451A>T (p.Asn151Tyr) c.304A>T (p.Asn102Tyr) | |
| 6 | g.47554677A= | CA1626449131 | CD2AP | c.452A= (p.Asn151=) c.305A= (p.Asn102=) | |
| 6 | g.47554677A>C | CA363939602 | CD2AP | c.452A>C (p.Asn151Thr) c.305A>C (p.Asn102Thr) | |
| 6 | g.47554677A>G | CA3844002 | CD2AP | c.452A>G (p.Asn151Ser) c.305A>G (p.Asn102Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47554677A>T | CA363939605 | CD2AP | c.452A>T (p.Asn151Ile) c.305A>T (p.Asn102Ile) | gnomAD v4 |
| 6 | g.47554678T>A | CA363939608 | CD2AP | c.453T>A (p.Asn151Lys) c.306T>A (p.Asn102Lys) | gnomAD v4 |
| 6 | g.47554678T>C | CA450398752 | CD2AP | c.453T>C (p.Asn151=) c.306T>C (p.Asn102=) | |
| 6 | g.47554678T>G | CA363939607 | CD2AP | c.453T>G (p.Asn151Lys) c.306T>G (p.Asn102Lys) | |
| 6 | g.47554678_47554681delinsTAAC | CA1626449139 | CD2AP | c.453_456delinsTAAC (p.Asn151=) c.306_309delinsTAAC (p.Asn102=) | |
| 6 | g.47554679A= | CA1626449142 | CD2AP | c.454A= (p.Asn152=) c.307A= (p.Asn103=) | |
| 6 | g.47554679A>C | CA363939610 | CD2AP | c.454A>C (p.Asn152His) c.307A>C (p.Asn103His) | |
| 6 | g.47554679A>G | CA363939611 | CD2AP | c.454A>G (p.Asn152Asp) c.307A>G (p.Asn103Asp) | dbSNP |
| 6 | g.47554679A>T | CA363939612 | CD2AP | c.454A>T (p.Asn152Tyr) c.307A>T (p.Asn103Tyr) | |
| 6 | g.47554681_47554683del | CA566929901 | CD2AP | c.456_458del (p.Asn152del) c.309_311del (p.Asn103del) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.47554680A= | CA1626449144 | CD2AP | c.455A= (p.Asn152=) c.308A= (p.Asn103=) | |
| 6 | g.47554680A>C | CA363939614 | CD2AP | c.455A>C (p.Asn152Thr) c.308A>C (p.Asn103Thr) | dbSNP gnomAD v4 |
| 6 | g.47554680A>G | CA363939615 | CD2AP | c.455A>G (p.Asn152Ser) c.308A>G (p.Asn103Ser) | |
| 6 | g.47554680A>T | CA3844003 | CD2AP | c.455A>T (p.Asn152Ile) c.308A>T (p.Asn103Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.47554681C>A | CA363939617 | CD2AP | c.456C>A (p.Asn152Lys) c.309C>A (p.Asn103Lys) | |
| 6 | g.47554681C>G | CA363939619 | CD2AP | c.456C>G (p.Asn152Lys) c.309C>G (p.Asn103Lys) | |
| 6 | g.47554681C>T | CA450398767 | CD2AP | c.456C>T (p.Asn152=) c.309C>T (p.Asn103=) | gnomAD v4 |
| 6 | g.47554682A>C | CA363939621 | CD2AP | c.457A>C (p.Lys153Gln) c.310A>C (p.Lys104Gln) | |
| 6 | g.47554682A>G | CA363939622 | CD2AP | c.457A>G (p.Lys153Glu) c.310A>G (p.Lys104Glu) | |
| 6 | g.47554682A>T | CA363939623 | CD2AP | c.457A>T (p.Lys153Ter) c.310A>T (p.Lys104Ter) | |
| 6 | g.47554683A= | CA1626449147 | CD2AP | c.458A= (p.Lys153=) c.311A= (p.Lys104=) | |
| 6 | g.47554683A>C | CA363939628 | CD2AP | c.458A>C (p.Lys153Thr) c.311A>C (p.Lys104Thr) | dbSNP gnomAD v4 |
| 6 | g.47554683A>G | CA363939627 | CD2AP | c.458A>G (p.Lys153Arg) c.311A>G (p.Lys104Arg) | |
| 6 | g.47554683A>T | CA363939625 | CD2AP | c.458A>T (p.Lys153Met) c.311A>T (p.Lys104Met) | |
| 6 | g.47554684G>A | CA450398779 | CD2AP | c.459G>A (p.Lys153=) c.312G>A (p.Lys104=) | |
| 6 | g.47554684G>C | CA363939630 | CD2AP | c.459G>C (p.Lys153Asn) c.312G>C (p.Lys104Asn) | |
| 6 | g.47554684G>T | CA363939631 | CD2AP | c.459G>T (p.Lys153Asn) c.312G>T (p.Lys104Asn) | |
| 6 | g.47554685T>A | CA363939633 | CD2AP | c.460T>A (p.Leu154Met) c.313T>A (p.Leu105Met) | |
| 6 | g.47554685T>C | CA450398782 | CD2AP | c.460T>C (p.Leu154=) c.313T>C (p.Leu105=) | |
| 6 | g.47554685T>G | CA363939634 | CD2AP | c.460T>G (p.Leu154Val) c.313T>G (p.Leu105Val) | |
| 6 | g.47554685_47554691delinsTTGGGAC | CA1626449152 | CD2AP | c.460_466delinsTTGGGAC (p.Leu154=) c.313_319delinsTTGGGAC (p.Leu105=) | |
| 6 | g.47554686T>A | CA363939635 | CD2AP | c.461T>A (p.Leu154Ter) c.314T>A (p.Leu105Ter) | |
| 6 | g.47554686T>C | CA363939637 | CD2AP | c.461T>C (p.Leu154Ser) c.314T>C (p.Leu105Ser) | |
| 6 | g.47554686T>G | CA363939638 | CD2AP | c.461T>G (p.Leu154Trp) c.314T>G (p.Leu105Trp) | |
| 6 | g.47554688_47554693del | CA3844004 | CD2AP | c.463_468del (p.Gly155_Leu156del) c.316_321del (p.Gly106_Leu107del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47554687G>A | CA450398792 | CD2AP | c.462G>A (p.Leu154=) c.315G>A (p.Leu105=) | |
| 6 | g.47554687G>C | CA363939640 | CD2AP | c.462G>C (p.Leu154Phe) c.315G>C (p.Leu105Phe) | |
| 6 | g.47554687G>T | CA363939642 | CD2AP | c.462G>T (p.Leu154Phe) c.315G>T (p.Leu105Phe) | |
| 6 | g.47554688G>A | CA363939644 | CD2AP | c.463G>A (p.Gly155Arg) c.316G>A (p.Gly106Arg) | gnomAD v4 |
| 6 | g.47554688G>C | CA363939645 | CD2AP | c.463G>C (p.Gly155Arg) c.316G>C (p.Gly106Arg) | |
| 6 | g.47554688G>T | CA363939647 | CD2AP | c.463G>T (p.Gly155Ter) c.316G>T (p.Gly106Ter) | |
| 6 | g.47554688_47554690delinsGGA | CA1626449156 | CD2AP | c.463_465delinsGGA (p.Gly155=) c.316_318delinsGGA (p.Gly106=) | |
| 6 | g.47554689G>A | CA363939651 | CD2AP | c.464G>A (p.Gly155Glu) c.317G>A (p.Gly106Glu) | |
| 6 | g.47554689G>C | CA363939652 | CD2AP | c.464G>C (p.Gly155Ala) c.317G>C (p.Gly106Ala) | |
| 6 | g.47554689G>T | CA363939649 | CD2AP | c.464G>T (p.Gly155Val) c.317G>T (p.Gly106Val) | |
| 6 | g.47554689_47554690del | CA566929902 | CD2AP | c.464_465del (p.Gly155AlafsTer15) c.317_318del (p.Gly106AlafsTer15) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.47554690A>C | CA450398803 | CD2AP | c.465A>C (p.Gly155=) c.318A>C (p.Gly106=) | |
| 6 | g.47554690A>G | CA450398805 | CD2AP | c.465A>G (p.Gly155=) c.318A>G (p.Gly106=) | gnomAD v4 |
| 6 | g.47554690A>T | CA450398807 | CD2AP | c.465A>T (p.Gly155=) c.318A>T (p.Gly106=) | |
| 6 | g.47554691C>A | CA363939653 | CD2AP | c.466C>A (p.Leu156Met) c.319C>A (p.Leu107Met) | |
| 6 | g.47554691C>G | CA363939655 | CD2AP | c.466C>G (p.Leu156Val) c.319C>G (p.Leu107Val) | gnomAD v4 |
| 6 | g.47554691C>T | CA450398809 | CD2AP | c.466C>T (p.Leu156=) c.319C>T (p.Leu107=) | gnomAD v4 |
| 6 | g.47554692T>A | CA363939657 | CD2AP | c.467T>A (p.Leu156Gln) c.320T>A (p.Leu107Gln) | |
| 6 | g.47554692T>C | CA363939658 | CD2AP | c.467T>C (p.Leu156Pro) c.320T>C (p.Leu107Pro) | gnomAD v4 |
| 6 | g.47554692T>G | CA137926274 | CD2AP | c.467T>G (p.Leu156Arg) c.320T>G (p.Leu107Arg) | dbSNP |
| 6 | g.47554692T= | CA1626449159 | CD2AP | c.467T= (p.Leu156=) c.320T= (p.Leu107=) | |
| 6 | g.47554693G>A | CA450398814 | CD2AP | c.468G>A (p.Leu156=) c.321G>A (p.Leu107=) | gnomAD v4 |
| 6 | g.47554693G>C | CA450398815 | CD2AP | c.468G>C (p.Leu156=) c.321G>C (p.Leu107=) | |
| 6 | g.47554693G>T | CA450398817 | CD2AP | c.468G>T (p.Leu156=) c.321G>T (p.Leu107=) | |
| 6 | g.47554694T>A | CA363939663 | CD2AP | c.469T>A (p.Phe157Ile) c.322T>A (p.Phe108Ile) | |
| 6 | g.47554694T>C | CA363939660 | CD2AP | c.469T>C (p.Phe157Leu) c.322T>C (p.Phe108Leu) | |
| 6 | g.47554694T>G | CA363939661 | CD2AP | c.469T>G (p.Phe157Val) c.322T>G (p.Phe108Val) | |
| 6 | g.47554695T>A | CA363939665 | CD2AP | c.470T>A (p.Phe157Tyr) c.323T>A (p.Phe108Tyr) | |
| 6 | g.47554695T>C | CA363939666 | CD2AP | c.470T>C (p.Phe157Ser) c.323T>C (p.Phe108Ser) | |
| 6 | g.47554695T>G | CA363939667 | CD2AP | c.470T>G (p.Phe157Cys) c.323T>G (p.Phe108Cys) | |
| 6 | g.47554696T>A | CA3844005 | CD2AP | c.471T>A (p.Phe157Leu) c.324T>A (p.Phe108Leu) | dbSNP ExAC gnomAD v4 |
| 6 | g.47554696T>C | CA450398827 | CD2AP | c.471T>C (p.Phe157=) c.324T>C (p.Phe108=) | |
| 6 | g.47554696T>G | CA363939670 | CD2AP | c.471T>G (p.Phe157Leu) c.324T>G (p.Phe108Leu) | dbSNP |
| 6 | g.47554696T= | CA1626449166 | CD2AP | c.471T= (p.Phe157=) c.324T= (p.Phe108=) | |
| 6 | g.47554697C>A | CA363939674 | CD2AP | c.472C>A (p.Pro158Thr) c.325C>A (p.Pro109Thr) | |
| 6 | g.47554697C= | CA1626449171 | CD2AP | c.472C= (p.Pro158=) c.325C= (p.Pro109=) | |
| 6 | g.47554697C>G | CA3844006 | CD2AP | c.472C>G (p.Pro158Ala) c.325C>G (p.Pro109Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.47554697C>T | CA363939672 | CD2AP | c.472C>T (p.Pro158Ser) c.325C>T (p.Pro109Ser) | gnomAD v4 COSMIC |
| 6 | g.47554698C>A | CA363939676 | CD2AP | c.473C>A (p.Pro158His) c.326C>A (p.Pro109His) | |
| 6 | g.47554698C>G | CA363939678 | CD2AP | c.473C>G (p.Pro158Arg) c.326C>G (p.Pro109Arg) | |
| 6 | g.47554698C>T | CA363939679 | CD2AP | c.473C>T (p.Pro158Leu) c.326C>T (p.Pro109Leu) | |
| 6 | g.47554699C>A | CA450398839 | CD2AP | c.474C>A (p.Pro158=) c.327C>A (p.Pro109=) | |
| 6 | g.47554699C= | CA1626449175 | CD2AP | c.474C= (p.Pro158=) c.327C= (p.Pro109=) | |
| 6 | g.47554699C>G | CA450398840 | CD2AP | c.474C>G (p.Pro158=) c.327C>G (p.Pro109=) | |
| 6 | g.47554699C>T | CA3844007 | CD2AP | c.474C>T (p.Pro158=) c.327C>T (p.Pro109=) | ClinVar dbSNP ExAC gnomAD v4 |
| 6 | g.47554700T>A | CA363939681 | CD2AP | c.475T>A (p.Ser159Thr) c.328T>A (p.Ser110Thr) | |
| 6 | g.47554700T>C | CA363939682 | CD2AP | c.475T>C (p.Ser159Pro) c.328T>C (p.Ser110Pro) | |
| 6 | g.47554700T>G | CA363939683 | CD2AP | c.475T>G (p.Ser159Ala) c.328T>G (p.Ser110Ala) | |
| 6 | g.47554701C>A | CA363939685 | CD2AP | c.476C>A (p.Ser159Ter) c.329C>A (p.Ser110Ter) | |
| 6 | g.47554701C>G | CA363939687 | CD2AP | c.476C>G (p.Ser159Ter) c.329C>G (p.Ser110Ter) | |
| 6 | g.47554701C>T | CA363939689 | CD2AP | c.476C>T (p.Ser159Leu) c.329C>T (p.Ser110Leu) | |
| 6 | g.47554702A>C | CA450398847 | CD2AP | c.477A>C (p.Ser159=) c.330A>C (p.Ser110=) | |
| 6 | g.47554702A>G | CA450398848 | CD2AP | c.477A>G (p.Ser159=) c.330A>G (p.Ser110=) | |
| 6 | g.47554702A>T | CA450398849 | CD2AP | c.477A>T (p.Ser159=) c.330A>T (p.Ser110=) | |
| 6 | g.47554703A= | CA1626449182 | CD2AP | c.478A= (p.Asn160=) c.331A= (p.Asn111=) | |
| 6 | g.47554703A>C | CA363939690 | CD2AP | c.478A>C (p.Asn160His) c.331A>C (p.Asn111His) | |
| 6 | g.47554703A>G | CA363939691 | CD2AP | c.478A>G (p.Asn160Asp) c.331A>G (p.Asn111Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.47554703A>T | CA363939694 | CD2AP | c.478A>T (p.Asn160Tyr) c.331A>T (p.Asn111Tyr) | |
| 6 | g.47554704A>C | CA363939695 | CD2AP | c.479A>C (p.Asn160Thr) c.332A>C (p.Asn111Thr) | gnomAD v4 |
| 6 | g.47554704A>G | CA363939698 | CD2AP | c.479A>G (p.Asn160Ser) c.332A>G (p.Asn111Ser) | |
| 6 | g.47554704A>T | CA363939697 | CD2AP | c.479A>T (p.Asn160Ile) c.332A>T (p.Asn111Ile) | |
| 6 | g.47554705T>A | CA363939700 | CD2AP | c.480T>A (p.Asn160Lys) c.333T>A (p.Asn111Lys) | gnomAD v4 |
| 6 | g.47554705T>C | CA450398853 | CD2AP | c.480T>C (p.Asn160=) c.333T>C (p.Asn111=) | |
| 6 | g.47554705T>G | CA363939702 | CD2AP | c.480T>G (p.Asn160Lys) c.333T>G (p.Asn111Lys) | |
| 6 | g.47554708del | CA2679025528 | CD2AP | c.483del (p.Phe161LeufsTer2) c.336del (p.Phe112LeufsTer2) | gnomAD v4 |
| 6 | g.47554706T>A | CA363939703 | CD2AP | c.481T>A (p.Phe161Ile) c.334T>A (p.Phe112Ile) | |
| 6 | g.47554706T>C | CA363939704 | CD2AP | c.481T>C (p.Phe161Leu) c.334T>C (p.Phe112Leu) | |
| 6 | g.47554706T>G | CA363939706 | CD2AP | c.481T>G (p.Phe161Val) c.334T>G (p.Phe112Val) | |
| 6 | g.47554707T>A | CA363939708 | CD2AP | c.482T>A (p.Phe161Tyr) c.335T>A (p.Phe112Tyr) | |
| 6 | g.47554707T>C | CA363939710 | CD2AP | c.482T>C (p.Phe161Ser) c.335T>C (p.Phe112Ser) | |
| 6 | g.47554707T>G | CA363939711 | CD2AP | c.482T>G (p.Phe161Cys) c.335T>G (p.Phe112Cys) | |
| 6 | g.47554708T>A | CA363939712 | CD2AP | c.483T>A (p.Phe161Leu) c.336T>A (p.Phe112Leu) | |
| 6 | g.47554708T>C | CA450398858 | CD2AP | c.483T>C (p.Phe161=) c.336T>C (p.Phe112=) | |
| 6 | g.47554708T>G | CA363939714 | CD2AP | c.483T>G (p.Phe161Leu) c.336T>G (p.Phe112Leu) | |
| 6 | g.47554709G>A | CA363939716 | CD2AP | c.484G>A (p.Val162Met) c.337G>A (p.Val113Met) | dbSNP |
| 6 | g.47554709G>C | CA363939718 | CD2AP | c.484G>C (p.Val162Leu) c.337G>C (p.Val113Leu) | |
| 6 | g.47554709G= | CA1626449188 | CD2AP | c.484G= (p.Val162=) c.337G= (p.Val113=) | |
| 6 | g.47554709G>T | CA363939719 | CD2AP | c.484G>T (p.Val162Leu) c.337G>T (p.Val113Leu) | |
| 6 | g.47554710T>A | CA363939725 | CD2AP | c.485T>A (p.Val162Glu) c.338T>A (p.Val113Glu) | |
| 6 | g.47554710T>C | CA363939721 | CD2AP | c.485T>C (p.Val162Ala) c.338T>C (p.Val113Ala) | |
| 6 | g.47554710T>G | CA363939723 | CD2AP | c.485T>G (p.Val162Gly) c.338T>G (p.Val113Gly) | gnomAD v4 |
| 6 | g.47554711G>A | CA450398865 | CD2AP | c.486G>A (p.Val162=) c.339G>A (p.Val113=) | |
| 6 | g.47554711G>C | CA450398864 | CD2AP | c.486G>C (p.Val162=) c.339G>C (p.Val113=) | |
| 6 | g.47554711G>T | CA450398863 | CD2AP | c.486G>T (p.Val162=) c.339G>T (p.Val113=) | |
| 6 | g.47554712A>C | CA363939726 | CD2AP | c.487A>C (p.Lys163Gln) c.340A>C (p.Lys114Gln) | |
| 6 | g.47554712A>G | CA363939728 | CD2AP | c.487A>G (p.Lys163Glu) c.340A>G (p.Lys114Glu) | ClinVar gnomAD v4 |
| 6 | g.47554712A>T | CA363939730 | CD2AP | c.487A>T (p.Lys163Ter) c.340A>T (p.Lys114Ter) | gnomAD v4 |
| 6 | g.47554713A>C | CA363939731 | CD2AP | c.488A>C (p.Lys163Thr) c.341A>C (p.Lys114Thr) | |
| 6 | g.47554713A>G | CA363939733 | CD2AP | c.488A>G (p.Lys163Arg) c.341A>G (p.Lys114Arg) | |
| 6 | g.47554713A>T | CA363939734 | CD2AP | c.488A>T (p.Lys163Ile) c.341A>T (p.Lys114Ile) | |
| 6 | g.47554714A>C | CA363939735 | CD2AP | c.489A>C (p.Lys163Asn) c.342A>C (p.Lys114Asn) | |
| 6 | g.47554714A>G | CA450398871 | CD2AP | c.489A>G (p.Lys163=) c.342A>G (p.Lys114=) | |
| 6 | g.47554714A>T | CA363939736 | CD2AP | c.489A>T (p.Lys163Asn) c.342A>T (p.Lys114Asn) | |
| 6 | g.47554715G>A | CA363939738 | CD2AP | c.490G>A (p.Glu164Lys) c.343G>A (p.Glu115Lys) | |
| 6 | g.47554715G>C | CA363939740 | CD2AP | c.490G>C (p.Glu164Gln) c.343G>C (p.Glu115Gln) | |
| 6 | g.47554715G>T | CA363939741 | CD2AP | c.490G>T (p.Glu164Ter) c.343G>T (p.Glu115Ter) | |
| 6 | g.47554716A>C | CA363939746 | CD2AP | c.491A>C (p.Glu164Ala) c.344A>C (p.Glu115Ala) | |
| 6 | g.47554716A>G | CA363939744 | CD2AP | c.491A>G (p.Glu164Gly) c.344A>G (p.Glu115Gly) | |
| 6 | g.47554716A>T | CA363939743 | CD2AP | c.491A>T (p.Glu164Val) c.344A>T (p.Glu115Val) | |
| 6 | g.47554717A= | CA1626449192 | CD2AP | c.492A= (p.Glu164=) c.345A= (p.Glu115=) | |
| 6 | g.47554717A>C | CA363939747 | CD2AP | c.492A>C (p.Glu164Asp) c.345A>C (p.Glu115Asp) | |
| 6 | g.47554717A>G | CA450398878 | CD2AP | c.492A>G (p.Glu164=) c.345A>G (p.Glu115=) | dbSNP |
| 6 | g.47554717A>T | CA363939748 | CD2AP | c.492A>T (p.Glu164Asp) c.345A>T (p.Glu115Asp) | |
| 6 | g.47554718T>A | CA363939749 | CD2AP | c.493T>A (p.Leu165Ile) c.346T>A (p.Leu116Ile) | |
| 6 | g.47554718T>C | CA450398879 | CD2AP | c.493T>C (p.Leu165=) c.346T>C (p.Leu116=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.47554718T>G | CA363939750 | CD2AP | c.493T>G (p.Leu165Val) c.346T>G (p.Leu116Val) | |
| 6 | g.47554718T= | CA1626449195 | CD2AP | c.493T= (p.Leu165=) c.346T= (p.Leu116=) | |
| 6 | g.47554719T>A | CA363939751 | CD2AP | c.494T>A (p.Leu165Ter) c.347T>A (p.Leu116Ter) | |
| 6 | g.47554719T>C | CA363939752 | CD2AP | c.494T>C (p.Leu165Ser) c.347T>C (p.Leu116Ser) | gnomAD v4 |
| 6 | g.47554719T>G | CA363939754 | CD2AP | c.494T>G (p.Leu165Ter) c.347T>G (p.Leu116Ter) | gnomAD v4 |
| 6 | g.47554720A>C | CA363939756 | CD2AP | c.495A>C (p.Leu165Phe) c.348A>C (p.Leu116Phe) | |
| 6 | g.47554720A>G | CA450398882 | CD2AP | c.495A>G (p.Leu165=) c.348A>G (p.Leu116=) | |
| 6 | g.47554720A>T | CA363939757 | CD2AP | c.495A>T (p.Leu165Phe) c.348A>T (p.Leu116Phe) | dbSNP |
| 6 | g.47554721G>A | CA363939758 | CD2AP | c.496G>A (p.Glu166Lys) c.349G>A (p.Glu117Lys) | |
| 6 | g.47554721G>C | CA363939759 | CD2AP | c.496G>C (p.Glu166Gln) c.349G>C (p.Glu117Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47554721G= | CA1626449200 | CD2AP | c.496G= (p.Glu166=) c.349G= (p.Glu117=) | |
| 6 | g.47554721G>T | CA363939761 | CD2AP | c.496G>T (p.Glu166Ter) c.349G>T (p.Glu117Ter) |