| 3 | g.191357105G>A | CA355760627 | CCDC50 | c.67G>A (p.Val23Ile)
| gnomAD v4 |
| 3 | g.191357105G>C | CA355760628 | CCDC50 | c.67G>C (p.Val23Leu)
| |
| 3 | g.191357105G>T | CA355760629 | CCDC50 | c.67G>T (p.Val23Phe)
| |
| 3 | g.191357106T>A | CA355760630 | CCDC50 | c.68T>A (p.Val23Asp)
| |
| 3 | g.191357106T>C | CA355760631 | CCDC50 | c.68T>C (p.Val23Ala)
| |
| 3 | g.191357106T>G | CA355760632 | CCDC50 | c.68T>G (p.Val23Gly)
| |
| 3 | g.191357107C>A | CA437420616 | CCDC50 | c.69C>A (p.Val23=)
| |
| 3 | g.191357107C= | CA1429201738 | CCDC50 | c.69C= (p.Val23=)
| |
| 3 | g.191357107C>G | CA437420617 | CCDC50 | c.69C>G (p.Val23=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191357107C>T | CA437420618 | CCDC50 | c.69C>T (p.Val23=)
| gnomAD v4 COSMIC |
| 3 | g.191357108C>A | CA355760633 | CCDC50 | c.70C>A (p.Leu24Met)
| |
| 3 | g.191357108C>G | CA355760634 | CCDC50 | c.70C>G (p.Leu24Val)
| |
| 3 | g.191357108C>T | CA437420619 | CCDC50 | c.70C>T (p.Leu24=)
| gnomAD v4 |
| 3 | g.191357109T>A | CA355760636 | CCDC50 | c.71T>A (p.Leu24Gln)
| |
| 3 | g.191357109T>C | CA355760637 | CCDC50 | c.71T>C (p.Leu24Pro)
| |
| 3 | g.191357109T>G | CA355760635 | CCDC50 | c.71T>G (p.Leu24Arg)
| |
| 3 | g.191357110G>A | CA89772359 | CCDC50 | c.72G>A (p.Leu24=)
| dbSNP |
| 3 | g.191357110G>C | CA437420620 | CCDC50 | c.72G>C (p.Leu24=)
| |
| 3 | g.191357110G= | CA1429201741 | CCDC50 | c.72G= (p.Leu24=)
| |
| 3 | g.191357110G>T | CA437420621 | CCDC50 | c.72G>T (p.Leu24=)
| |
| 3 | g.191357111G>A | CA355760639 | CCDC50 | c.73G>A (p.Glu25Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191357111G>C | CA355760638 | CCDC50 | c.73G>C (p.Glu25Gln)
| |
| 3 | g.191357111G= | CA1429201744 | CCDC50 | c.73G= (p.Glu25=)
| |
| 3 | g.191357111G>T | CA355760640 | CCDC50 | c.73G>T (p.Glu25Ter)
| |
| 3 | g.191357112A>C | CA355760641 | CCDC50 | c.74A>C (p.Glu25Ala)
| |
| 3 | g.191357112A>G | CA355760643 | CCDC50 | c.74A>G (p.Glu25Gly)
| |
| 3 | g.191357112A>T | CA355760642 | CCDC50 | c.74A>T (p.Glu25Val)
| |
| 3 | g.191357113G>A | CA437420622 | CCDC50 | c.75G>A (p.Glu25=)
| |
| 3 | g.191357113G>C | CA355760644 | CCDC50 | c.75G>C (p.Glu25Asp)
| |
| 3 | g.191357113G>T | CA355760645 | CCDC50 | c.75G>T (p.Glu25Asp)
| COSMIC |
| 3 | g.191357114del | CA2669071548 | CCDC50 | c.76del (p.Asp26ThrfsTer?)
| gnomAD v4 |
| 3 | g.191357114G>A | CA355760646 | CCDC50 | c.76G>A (p.Asp26Asn)
| |
| 3 | g.191357114G>C | CA355760648 | CCDC50 | c.76G>C (p.Asp26His)
| dbSNP gnomAD v4 |
| 3 | g.191357114G= | CA1429201747 | CCDC50 | c.76G= (p.Asp26=)
| |
| 3 | g.191357114G>T | CA355760647 | CCDC50 | c.76G>T (p.Asp26Tyr)
| gnomAD v4 |
| 3 | g.191357115A>C | CA355760649 | CCDC50 | c.77A>C (p.Asp26Ala)
| |
| 3 | g.191357115A>G | CA355760650 | CCDC50 | c.77A>G (p.Asp26Gly)
| |
| 3 | g.191357115A>T | CA355760651 | CCDC50 | c.77A>T (p.Asp26Val)
| |
| 3 | g.191357116C>A | CA355760652 | CCDC50 | c.78C>A (p.Asp26Glu)
| gnomAD v4 |
| 3 | g.191357116C>G | CA355760653 | CCDC50 | c.78C>G (p.Asp26Glu)
| |
| 3 | g.191357116C>T | CA437420623 | CCDC50 | c.78C>T (p.Asp26=)
| COSMIC |
| 3 | g.191357117C>A | CA355760654 | CCDC50 | c.79C>A (p.His27Asn)
| |
| 3 | g.191357117C= | CA1429201756 | CCDC50 | c.79C= (p.His27=)
| |
| 3 | g.191357117C>G | CA355760655 | CCDC50 | c.79C>G (p.His27Asp)
| |
| 3 | g.191357117C>T | CA2755140 | CCDC50 | c.79C>T (p.His27Tyr)
| dbSNP ExAC |
| 3 | g.191357120_191357121dup | CA2586973304 | CCDC50 | c.82_83dup (p.Leu29ProfsTer?)
| |
| 3 | g.191357118A= | CA1429201762 | CCDC50 | c.80A= (p.His27=)
| |
| 3 | g.191357118A>C | CA355760656 | CCDC50 | c.80A>C (p.His27Pro)
| |
| 3 | g.191357118A>G | CA355760657 | CCDC50 | c.80A>G (p.His27Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191357118A>T | CA355760658 | CCDC50 | c.80A>T (p.His27Leu)
| |
| 3 | g.191357119C>A | CA355760659 | CCDC50 | c.81C>A (p.His27Gln)
| gnomAD v4 |
| 3 | g.191357119C= | CA1429201769 | CCDC50 | c.81C= (p.His27=)
| |
| 3 | g.191357119C>G | CA355760660 | CCDC50 | c.81C>G (p.His27Gln)
| dbSNP |
| 3 | g.191357119C>T | CA437420624 | CCDC50 | c.81C>T (p.His27=)
| |
| 3 | g.191357120A>C | CA355760663 | CCDC50 | c.82A>C (p.Thr28Pro)
| |
| 3 | g.191357120A>G | CA355760661 | CCDC50 | c.82A>G (p.Thr28Ala)
| gnomAD v4 |
| 3 | g.191357120A>T | CA355760662 | CCDC50 | c.82A>T (p.Thr28Ser)
| |
| 3 | g.191357121C>A | CA355760664 | CCDC50 | c.83C>A (p.Thr28Asn)
| |
| 3 | g.191357121C>G | CA355760665 | CCDC50 | c.83C>G (p.Thr28Ser)
| |
| 3 | g.191357121C>T | CA355760666 | CCDC50 | c.83C>T (p.Thr28Ile)
| ClinVar COSMIC |
| 3 | g.191357122C>A | CA437420625 | CCDC50 | c.84C>A (p.Thr28=)
| |
| 3 | g.191357122C= | CA1429201772 | CCDC50 | c.84C= (p.Thr28=)
| |
| 3 | g.191357122C>G | CA437420626 | CCDC50 | c.84C>G (p.Thr28=)
| |
| 3 | g.191357122C>T | CA2755141 | CCDC50 | c.84C>T (p.Thr28=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191357123C>A | CA355760668 | CCDC50 | c.85C>A (p.Leu29Met)
| |
| 3 | g.191357123C= | CA1429201774 | CCDC50 | c.85C= (p.Leu29=)
| |
| 3 | g.191357123C>G | CA355760669 | CCDC50 | c.85C>G (p.Leu29Val)
| |
| 3 | g.191357123C>T | CA89772363 | CCDC50 | c.85C>T (p.Leu29=)
| dbSNP gnomAD v4 |
| 3 | g.191357124T>A | CA355760670 | CCDC50 | c.86T>A (p.Leu29Gln)
| |
| 3 | g.191357124T>C | CA355760671 | CCDC50 | c.86T>C (p.Leu29Pro)
| |
| 3 | g.191357124T>G | CA355760672 | CCDC50 | c.86T>G (p.Leu29Arg)
| |
| 3 | g.191357125G>A | CA437420627 | CCDC50 | c.87G>A (p.Leu29=)
| |
| 3 | g.191357125G>C | CA437420628 | CCDC50 | c.87G>C (p.Leu29=)
| |
| 3 | g.191357125G>T | CA437420629 | CCDC50 | c.87G>T (p.Leu29=)
| |
| 3 | g.191357126G>A | CA355760673 | CCDC50 | c.88G>A (p.Ala30Thr)
| |
| 3 | g.191357126G>C | CA355760674 | CCDC50 | c.88G>C (p.Ala30Pro)
| |
| 3 | g.191357126G= | CA1429201777 | CCDC50 | c.88G= (p.Ala30=)
| |
| 3 | g.191357126G>T | CA355760675 | CCDC50 | c.88G>T (p.Ala30Ser)
| dbSNP |
| 3 | g.191357127C>A | CA355760676 | CCDC50 | c.89C>A (p.Ala30Asp)
| |
| 3 | g.191357127C>G | CA355760678 | CCDC50 | c.89C>G (p.Ala30Gly)
| |
| 3 | g.191357127C>T | CA355760677 | CCDC50 | c.89C>T (p.Ala30Val)
| |
| 3 | g.191357128T>A | CA437420630 | CCDC50 | c.90T>A (p.Ala30=)
| |
| 3 | g.191357128T>C | CA2755142 | CCDC50 | c.90T>C (p.Ala30=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191357128T>G | CA437420631 | CCDC50 | c.90T>G (p.Ala30=)
| |
| 3 | g.191357128T= | CA1429201784 | CCDC50 | c.90T= (p.Ala30=)
| |
| 3 | g.191357129C>A | CA355760679 | CCDC50 | c.91C>A (p.His31Asn)
| |
| 3 | g.191357129C= | CA1429201790 | CCDC50 | c.91C= (p.His31=)
| |
| 3 | g.191357129C>G | CA355760680 | CCDC50 | c.91C>G (p.His31Asp)
| dbSNP gnomAD v4 |
| 3 | g.191357129C>T | CA355760681 | CCDC50 | c.91C>T (p.His31Tyr)
| |
| 3 | g.191357130A= | CA1429201792 | CCDC50 | c.92A= (p.His31=)
| |
| 3 | g.191357130A>C | CA355760682 | CCDC50 | c.92A>C (p.His31Pro)
| |
| 3 | g.191357130A>G | CA355760683 | CCDC50 | c.92A>G (p.His31Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191357130A>T | CA355760684 | CCDC50 | c.92A>T (p.His31Leu)
| |
| 3 | g.191357131C>A | CA355760685 | CCDC50 | c.93C>A (p.His31Gln)
| gnomAD v4 |
| 3 | g.191357131C>G | CA355760686 | CCDC50 | c.93C>G (p.His31Gln)
| |
| 3 | g.191357131C>T | CA437420632 | CCDC50 | c.93C>T (p.His31=)
| |
| 3 | g.191357132A>C | CA355760687 | CCDC50 | c.94A>C (p.Ser32Arg)
| |
| 3 | g.191357132A>G | CA355760688 | CCDC50 | c.94A>G (p.Ser32Gly)
| |
| 3 | g.191357132A>T | CA355760689 | CCDC50 | c.94A>T (p.Ser32Cys)
| |
| 3 | g.191357133G>A | CA355760690 | CCDC50 | c.95G>A (p.Ser32Asn)
| |
| 3 | g.191357133G>C | CA355760692 | CCDC50 | c.95G>C (p.Ser32Thr)
| |
| 3 | g.191357133G>T | CA355760691 | CCDC50 | c.95G>T (p.Ser32Ile)
| |
| 3 | g.191357134C>A | CA355760693 | CCDC50 | c.96C>A (p.Ser32Arg)
| |
| 3 | g.191357134C>G | CA355760694 | CCDC50 | c.96C>G (p.Ser32Arg)
| |
| 3 | g.191357134C>T | CA437420633 | CCDC50 | c.96C>T (p.Ser32=)
| gnomAD v4 |
| 3 | g.191357135C>A | CA355760696 | CCDC50 | c.97C>A (p.Leu33Met)
| |
| 3 | g.191357135C>G | CA355760698 | CCDC50 | c.97C>G (p.Leu33Val)
| gnomAD v4 |
| 3 | g.191357135C>T | CA437420634 | CCDC50 | c.97C>T (p.Leu33=)
| gnomAD v4 |
| 3 | g.191357136T>A | CA355760700 | CCDC50 | c.98T>A (p.Leu33Gln)
| |
| 3 | g.191357136T>C | CA355760702 | CCDC50 | c.98T>C (p.Leu33Pro)
| |
| 3 | g.191357136T>G | CA355760704 | CCDC50 | c.98T>G (p.Leu33Arg)
| |
| 3 | g.191357137G>A | CA437420638 | CCDC50 | c.99G>A (p.Leu33=)
| |
| 3 | g.191357137G>C | CA437420635 | CCDC50 | c.99G>C (p.Leu33=)
| |
| 3 | g.191357137G>T | CA437420636 | CCDC50 | c.99G>T (p.Leu33=)
| |
| 3 | g.191357138C>A | CA355760707 | CCDC50 | c.100C>A (p.Gln34Lys)
| |
| 3 | g.191357138C>G | CA355760709 | CCDC50 | c.100C>G (p.Gln34Glu)
| |
| 3 | g.191357138C>T | CA355760711 | CCDC50 | c.100C>T (p.Gln34Ter)
| |
| 3 | g.191357139A>C | CA355760715 | CCDC50 | c.101A>C (p.Gln34Pro)
| |
| 3 | g.191357139A>G | CA355760717 | CCDC50 | c.101A>G (p.Gln34Arg)
| |
| 3 | g.191357139A>T | CA355760713 | CCDC50 | c.101A>T (p.Gln34Leu)
| |
| 3 | g.191357140G>A | CA437420639 | CCDC50 | c.102G>A (p.Gln34=)
| gnomAD v4 |
| 3 | g.191357140G>C | CA355760720 | CCDC50 | c.102G>C (p.Gln34His)
| |
| 3 | g.191357140G>T | CA355760722 | CCDC50 | c.102G>T (p.Gln34His)
| |
| 3 | g.191357141G>A | CA2755143 | CCDC50 | c.103G>A (p.Glu35Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191357141G>C | CA355760725 | CCDC50 | c.103G>C (p.Glu35Gln)
| |
| 3 | g.191357141G= | CA1429201796 | CCDC50 | c.103G= (p.Glu35=)
| |
| 3 | g.191357141G>T | CA355760727 | CCDC50 | c.103G>T (p.Glu35Ter)
| |
| 3 | g.191357142A>C | CA355760732 | CCDC50 | c.104A>C (p.Glu35Ala)
| |
| 3 | g.191357142A>G | CA355760729 | CCDC50 | c.104A>G (p.Glu35Gly)
| |
| 3 | g.191357142A>T | CA355760731 | CCDC50 | c.104A>T (p.Glu35Val)
| |
| 3 | g.191357143A>C | CA355760735 | CCDC50 | c.105A>C (p.Glu35Asp)
| |
| 3 | g.191357143A>G | CA437420640 | CCDC50 | c.105A>G (p.Glu35=)
| gnomAD v4 |
| 3 | g.191357143A>T | CA355760737 | CCDC50 | c.105A>T (p.Glu35Asp)
| |
| 3 | g.191357144C>A | CA355760739 | CCDC50 | c.106C>A (p.Gln36Lys)
| |
| 3 | g.191357144C>G | CA355760741 | CCDC50 | c.106C>G (p.Gln36Glu)
| |
| 3 | g.191357144C>T | CA355760746 | CCDC50 | c.106C>T (p.Gln36Ter)
| |
| 3 | g.191357145A= | CA1429201799 | CCDC50 | c.107A= (p.Gln36=)
| |
| 3 | g.191357145A>C | CA355760751 | CCDC50 | c.107A>C (p.Gln36Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191357145A>G | CA2755144 | CCDC50 | c.107A>G (p.Gln36Arg)
| dbSNP ExAC gnomAD v2 |
| 3 | g.191357145A>T | CA355760749 | CCDC50 | c.107A>T (p.Gln36Leu)
| |
| 3 | g.191357145_191357146del | CA2577992112 | CCDC50 | c.107_108del (p.Gln36ArgfsTer3)
| gnomAD v4 |
| 3 | g.191357145_191357149delinsAAGAG | CA1429201801 | CCDC50 | c.107_111delinsAAGAG (p.Gln36=)
| |
| 3 | g.191357146A>C | CA355760753 | CCDC50 | c.108A>C (p.Gln36His)
| |
| 3 | g.191357146A>G | CA437420641 | CCDC50 | c.108A>G (p.Gln36=)
| gnomAD v4 |
| 3 | g.191357146A>T | CA355760755 | CCDC50 | c.108A>T (p.Gln36His)
| |
| 3 | g.191357148_191357151del | CA548492240 | CCDC50 | c.110_112+1del
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191357147G>A | CA355760758 | CCDC50 | c.109G>A (p.Glu37Lys)
| |
| 3 | g.191357147G>C | CA355760760 | CCDC50 | c.109G>C (p.Glu37Gln)
| |
| 3 | g.191357147G>T | CA355760762 | CCDC50 | c.109G>T (p.Glu37Ter)
| |
| 3 | g.191357148A>C | CA355760764 | CCDC50 | c.110A>C (p.Glu37Ala)
| |
| 3 | g.191357148A>G | CA355760766 | CCDC50 | c.110A>G (p.Glu37Gly)
| |
| 3 | g.191357148A>T | CA355760768 | CCDC50 | c.110A>T (p.Glu37Val)
| |
| 3 | g.191357149G>A | CA437420642 | CCDC50 | c.111G>A (p.Glu37=)
| |
| 3 | g.191357149G>C | CA355760770 | CCDC50 | c.111G>C (p.Glu37Asp)
| |
| 3 | g.191357149G>T | CA355760771 | CCDC50 | c.111G>T (p.Glu37Asp)
| |
| 3 | g.191357150A>C | CA355760773 | CCDC50 | c.112A>C (p.Ile38Leu)
| |
| 3 | g.191357150A>G | CA355760775 | CCDC50 | c.112A>G (p.Ile38Val)
| |
| 3 | g.191357150A>T | CA355760777 | CCDC50 | c.112A>T (p.Ile38Phe)
| |
| 3 | g.191357151G>A | CA355760779 | CCDC50 | c.112+1G>A (n.112+1G>A)
| |
| 3 | g.191357151G>C | CA355760782 | CCDC50 | c.112+1G>C (n.112+1G>C)
| |
| 3 | g.191357151G>T | CA355760781 | CCDC50 | c.112+1G>T (n.112+1G>T)
| |
| 3 | g.191357152T>A | CA355760784 | CCDC50 | c.112+2T>A (n.112+2T>A)
| |
| 3 | g.191357152T>C | CA355760785 | CCDC50 | c.112+2T>C (n.112+2T>C)
| |
| 3 | g.191357152T>G | CA355760786 | CCDC50 | c.112+2T>G (n.112+2T>G)
| |
| 3 | g.191357153G>A | CA2669071549 | CCDC50 | c.112+3G>A (n.112+3G>A)
| gnomAD v4 |
| 3 | g.191357153G>T | CA2759889062 | CCDC50 | c.112+3G>T (n.112+3G>T)
| |
| 3 | g.191357154A>C | CA2669071551 | CCDC50 | c.112+4A>C (n.112+4A>C)
| gnomAD v4 |
| 3 | g.191357155_191357158dup | CA2669071550 | CCDC50 | c.112+5_112+8dup (n.112+5_112+8dup)
| gnomAD v4 |
| 3 | g.191357155G>A | CA548492244 | CCDC50 | c.112+5G>A (n.112+5G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191357155G= | CA1429201806 | CCDC50 | c.112+5G= (n.112+5G=)
| |
| 3 | g.191357156T>G | CA645526396 | CCDC50 | c.112+6T>G (n.112+6T>G)
| COSMIC |
| 3 | g.191357159T>C | CA2759889063 | CCDC50 | c.112+9T>C (n.112+9T>C)
| |
| 3 | g.191357160A= | CA1429201808 | CCDC50 | c.112+10A= (n.112+10A=)
| |
| 3 | g.191357160A>G | CA2755145 | CCDC50 | c.112+10A>G (n.112+10A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191357161C>A | CA548492248 | CCDC50 | c.112+11C>A (n.112+11C>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191357161C= | CA1429201810 | CCDC50 | c.112+11C= (n.112+11C=)
| |
| 3 | g.191357162C>T | CA2669071552 | CCDC50 | c.112+12C>T (n.112+12C>T)
| gnomAD v4 |
| 3 | g.191357164C>T | CA2669071553 | CCDC50 | c.112+14C>T (n.112+14C>T)
| gnomAD v4 |
| 3 | g.191357166C= | CA1429201812 | CCDC50 | c.112+16C= (n.112+16C=)
| |
| 3 | g.191357166C>T | CA2755146 | CCDC50 | c.112+16C>T (n.112+16C>T)
| dbSNP ExAC gnomAD v2 |
| 3 | g.191357168T>C | CA2577992113 | CCDC50 | c.112+18T>C (n.112+18T>C)
| |
| 3 | g.191357171A>G | CA2669071554 | CCDC50 | c.112+21A>G (n.112+21A>G)
| gnomAD v4 |
| 3 | g.191357172T= | CA1429201815 | CCDC50 | c.112+22T= (n.112+22T=)
| |
| 3 | g.191357173G>C | CA1429201819 | CCDC50 | c.112+23G>C (n.112+23G>C)
| dbSNP gnomAD v4 |
| 3 | g.191357173G= | CA1429201818 | CCDC50 | c.112+23G= (n.112+23G=)
| |
| 3 | g.191357173dup | CA1429201817 | CCDC50 | c.112+23dup (n.112+23dup)
| dbSNP |
| 3 | g.191357174C>A | CA2669071555 | CCDC50 | c.112+24C>A (n.112+24C>A)
| gnomAD v4 |
| 3 | g.191357174C= | CA1429201822 | CCDC50 | c.112+24C= (n.112+24C=)
| |
| 3 | g.191357174C>G | CA904357408 | CCDC50 | c.112+24C>G (n.112+24C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191357174C>T | CA2669071556 | CCDC50 | c.112+24C>T (n.112+24C>T)
| gnomAD v4 |
| 3 | g.191357175T>C | CA2755147 | CCDC50 | c.112+25T>C (n.112+25T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191357175T= | CA1429201824 | CCDC50 | c.112+25T= (n.112+25T=)
| |
| 3 | g.191357176C>A | CA2516573440 | CCDC50 | c.112+26C>A (n.112+26C>A)
| |
| 3 | g.191357176C>T | CA2669071557 | CCDC50 | c.112+26C>T (n.112+26C>T)
| gnomAD v4 |
| 3 | g.191357177C>T | CA2669071558 | CCDC50 | c.112+27C>T (n.112+27C>T)
| gnomAD v4 |
| 3 | g.191357178_191357180del | CA2577992114 | CCDC50 | c.112+28_112+30del (n.112+28_112+30del)
| |
| 3 | g.191357178T>C | CA2669071560 | CCDC50 | c.112+28T>C (n.112+28T>C)
| gnomAD v4 |
| 3 | g.191357179del | CA2669071559 | CCDC50 | c.112+29del (n.112+29del)
| gnomAD v4 |
| 3 | g.191357179T>C | CA2755148 | CCDC50 | c.112+29T>C (n.112+29T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191357179T= | CA1429201826 | CCDC50 | c.112+29T= (n.112+29T=)
| |
| 3 | g.191357182G= | CA1429201828 | CCDC50 | c.112+32G= (n.112+32G=)
| |
| 3 | g.191357183T>C | CA1429201831 | CCDC50 | c.112+33T>C (n.112+33T>C)
| dbSNP gnomAD v4 |
| 3 | g.191357183T= | CA1429201830 | CCDC50 | c.112+33T= (n.112+33T=)
| |
| 3 | g.191357187_191357194dup | CA548492259 | CCDC50 | c.112+37_112+44dup (n.112+37_112+44dup)
| dbSNP gnomAD v2 |
| 3 | g.191357186T>A | CA2669071561 | CCDC50 | c.112+36T>A (n.112+36T>A)
| gnomAD v4 |
| 3 | g.191357187C>T | CA2669071562 | CCDC50 | c.112+37C>T (n.112+37C>T)
| gnomAD v4 |
| 3 | g.191357188T>C | CA2669071566 | CCDC50 | c.112+38T>C (n.112+38T>C)
| gnomAD v4 |
| 3 | g.191357194dup | CA2669071563 | CCDC50 | c.112+44dup (n.112+44dup)
| gnomAD v4 |
| 3 | g.191357194del | CA2669071564 | CCDC50 | c.112+44del (n.112+44del)
| gnomAD v4 |
| 3 | g.191357193_191357194del | CA2669071565 | CCDC50 | c.112+43_112+44del (n.112+43_112+44del)
| gnomAD v4 |
| 3 | g.191357189T>G | CA2669071567 | CCDC50 | c.112+39T>G (n.112+39T>G)
| gnomAD v4 |
| 3 | g.191357189_191357190insA | CA2577992115 | CCDC50 | c.112+39_112+40insA (n.112+39_112+40insA)
| |
| 3 | g.191357190T>A | CA2577992116 | CCDC50 | c.112+40T>A (n.112+40T>A)
| |
| 3 | g.191357190T>C | CA2755149 | CCDC50 | c.112+40T>C (n.112+40T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191357190T= | CA1429201832 | CCDC50 | c.112+40T= (n.112+40T=)
| |
| 3 | g.191357192T>G | CA2755150 | CCDC50 | c.112+42T>G (n.112+42T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191357192T= | CA1429201836 | CCDC50 | c.112+42T= (n.112+42T=)
| |
| 3 | g.191357193T>G | CA2755151 | CCDC50 | c.112+43T>G (n.112+43T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191357193T= | CA1429201838 | CCDC50 | c.112+43T= (n.112+43T=)
| |
| 3 | g.191357194T>C | CA2755152 | CCDC50 | c.112+44T>C (n.112+44T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191357194T= | CA1429201840 | CCDC50 | c.112+44T= (n.112+44T=)
| |
| 3 | g.191357195A= | CA1429201842 | CCDC50 | c.112+45A= (n.112+45A=)
| |
| 3 | g.191357195A>G | CA2755153 | CCDC50 | c.112+45A>G (n.112+45A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191357196G>A | CA2669071568 | CCDC50 | c.112+46G>A (n.112+46G>A)
| gnomAD v4 |
| 3 | g.191357196G>C | CA2740494416 | CCDC50 | c.112+46G>C (n.112+46G>C)
| |
| 3 | g.191357197del | CA2669071569 | CCDC50 | c.112+47del (n.112+47del)
| gnomAD v4 |
| 3 | g.191357197T>A | CA2669071570 | CCDC50 | c.112+47T>A (n.112+47T>A)
| gnomAD v4 |
| 3 | g.191357198G>A | CA2669071571 | CCDC50 | c.112+48G>A (n.112+48G>A)
| gnomAD v4 |
| 3 | g.191357198G>C | CA2669071572 | CCDC50 | c.112+48G>C (n.112+48G>C)
| gnomAD v4 |
| 3 | g.191357198G= | CA1429201845 | CCDC50 | c.112+48G= (n.112+48G=)
| |
| 3 | g.191357198G>T | CA2755154 | CCDC50 | c.112+48G>T (n.112+48G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191357198_191357203del | CA2740494417 | CCDC50 | c.112+48_112+53del (n.112+48_112+53del)
| |
| 3 | g.191357199G>A | CA2755155 | CCDC50 | c.112+49G>A (n.112+49G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191357199G= | CA1429201847 | CCDC50 | c.112+49G= (n.112+49G=)
| |
| 3 | g.191357201A= | CA1429201849 | CCDC50 | c.112+51A= (n.112+51A=)
| |
| 3 | g.191357202G>A | CA2755156 | CCDC50 | c.112+52G>A (n.112+52G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191357202G= | CA1429201852 | CCDC50 | c.112+52G= (n.112+52G=)
| |
| 3 | g.191357202G>T | CA2669071573 | CCDC50 | c.112+52G>T (n.112+52G>T)
| gnomAD v4 |
| 3 | g.191357202_191357203insAAATAGTAGTAGGTAGTAGTGAAATG | CA1429201850 | CCDC50 | c.112+52_112+53insAAATAGTAGTAGGTAGTAGTGAAATG (n.112+52_112+53insAAATAGTAGTAGGTAGTAGTGAAATG)
| dbSNP |
| 3 | g.191357203C>A | CA2669071574 | CCDC50 | c.112+53C>A (n.112+53C>A)
| gnomAD v4 |
| 3 | g.191357204T>A | CA2669071575 | CCDC50 | c.112+54T>A (n.112+54T>A)
| gnomAD v4 |
| 3 | g.191357205T>C | CA2669071576 | CCDC50 | c.112+55T>C (n.112+55T>C)
| gnomAD v4 |
| 3 | g.191357205T>G | CA1429201864 | CCDC50 | c.112+55T>G (n.112+55T>G)
| dbSNP gnomAD v4 |
| 3 | g.191357205T= | CA1429201862 | CCDC50 | c.112+55T= (n.112+55T=)
| |
