| 3 | g.191357054_191357085del | CA2669071516 | CCDC50 | c.50-34_50-3del (n.50-34_50-3del)
| gnomAD v4 |
| 3 | g.191357076C>A | CA2669071540 | CCDC50 | c.50-12C>A (n.50-12C>A)
| gnomAD v4 |
| 3 | g.191357076C= | CA1429201651 | CCDC50 | c.50-12C= (n.50-12C=)
| |
| 3 | g.191357076C>T | CA1429201652 | CCDC50 | c.50-12C>T (n.50-12C>T)
| dbSNP |
| 3 | g.191357077A= | CA1429201654 | CCDC50 | c.50-11A= (n.50-11A=)
| |
| 3 | g.191357077A>G | CA904357221 | CCDC50 | c.50-11A>G (n.50-11A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191357077A>T | CA2759889061 | CCDC50 | c.50-11A>T (n.50-11A>T)
| |
| 3 | g.191357078T>A | CA2669071541 | CCDC50 | c.50-10T>A (n.50-10T>A)
| gnomAD v4 |
| 3 | g.191357078T>C | CA2669071542 | CCDC50 | c.50-10T>C (n.50-10T>C)
| gnomAD v4 |
| 3 | g.191357079C>A | CA2669071543 | CCDC50 | c.50-9C>A (n.50-9C>A)
| gnomAD v4 |
| 3 | g.191357079C= | CA1429201657 | CCDC50 | c.50-9C= (n.50-9C=)
| |
| 3 | g.191357079C>G | CA437420601 | CCDC50 | c.50-9C>G (n.50-9C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191357081A= | CA1429201662 | CCDC50 | c.50-7A= (n.50-7A=)
| |
| 3 | g.191357081A>C | CA548492188 | CCDC50 | c.50-7A>C (n.50-7A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191357081A>G | CA437420602 | CCDC50 | c.50-7A>G (n.50-7A>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191357081A>T | CA2669071544 | CCDC50 | c.50-7A>T (n.50-7A>T)
| gnomAD v4 |
| 3 | g.191357082C>A | CA2669071545 | CCDC50 | c.50-6C>A (n.50-6C>A)
| gnomAD v4 |
| 3 | g.191357083T>C | CA548492196 | CCDC50 | c.50-5T>C (n.50-5T>C)
| dbSNP gnomAD v2 |
| 3 | g.191357083T= | CA1429201672 | CCDC50 | c.50-5T= (n.50-5T=)
| |
| 3 | g.191357084C>A | CA2581890929 | CCDC50 | c.50-4C>A (n.50-4C>A)
| |
| 3 | g.191357084C= | CA1429201688 | CCDC50 | c.50-4C= (n.50-4C=)
| |
| 3 | g.191357084C>G | CA142716 | CCDC50 | c.50-4C>G (n.50-4C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191357084C>T | CA2581890930 | CCDC50 | c.50-4C>T (n.50-4C>T)
| |
| 3 | g.191357085T>C | CA2669071546 | CCDC50 | c.50-3T>C (n.50-3T>C)
| gnomAD v4 |
| 3 | g.191357086A>C | CA355760585 | CCDC50 | c.50-2A>C (n.50-2A>C)
| |
| 3 | g.191357086A>G | CA355760586 | CCDC50 | c.50-2A>G (n.50-2A>G)
| gnomAD v4 |
| 3 | g.191357086A>T | CA355760587 | CCDC50 | c.50-2A>T (n.50-2A>T)
| |
| 3 | g.191357087G>A | CA355760588 | CCDC50 | c.50-1G>A (n.50-1G>A)
| |
| 3 | g.191357087G>C | CA355760589 | CCDC50 | c.50-1G>C (n.50-1G>C)
| |
| 3 | g.191357087G>T | CA355760590 | CCDC50 | c.50-1G>T (n.50-1G>T)
| |
| 3 | g.191357088T>A | CA355760593 | CCDC50 | c.50T>A (p.Val17Glu)
| |
| 3 | g.191357088T>C | CA355760591 | CCDC50 | c.50T>C (p.Val17Ala)
| |
| 3 | g.191357088T>G | CA355760592 | CCDC50 | c.50T>G (p.Val17Gly)
| |
| 3 | g.191357089A= | CA1429201700 | CCDC50 | c.51A= (p.Val17=)
| |
| 3 | g.191357089A>C | CA437420603 | CCDC50 | c.51A>C (p.Val17=)
| |
| 3 | g.191357089A>G | CA437420604 | CCDC50 | c.51A>G (p.Val17=)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191357089A>T | CA437420605 | CCDC50 | c.51A>T (p.Val17=)
| |
| 3 | g.191357090T>A | CA355760594 | CCDC50 | c.52T>A (p.Cys18Ser)
| |
| 3 | g.191357090T>C | CA355760595 | CCDC50 | c.52T>C (p.Cys18Arg)
| |
| 3 | g.191357090T>G | CA355760596 | CCDC50 | c.52T>G (p.Cys18Gly)
| |
| 3 | g.191357090_191357091del | CA2704889302 | CCDC50 | c.52_53del (p.Cys18ProfsTer21)
| dbSNP |
| 3 | g.191357091G>A | CA355760597 | CCDC50 | c.53G>A (p.Cys18Tyr)
| |
| 3 | g.191357091G>C | CA355760598 | CCDC50 | c.53G>C (p.Cys18Ser)
| dbSNP gnomAD v2 |
| 3 | g.191357091G= | CA1429201708 | CCDC50 | c.53G= (p.Cys18=)
| |
| 3 | g.191357091G>T | CA355760599 | CCDC50 | c.53G>T (p.Cys18Phe)
| |
| 3 | g.191357092C>A | CA355760600 | CCDC50 | c.54C>A (p.Cys18Ter)
| gnomAD v4 |
| 3 | g.191357092C= | CA1429201710 | CCDC50 | c.54C= (p.Cys18=)
| |
| 3 | g.191357092C>G | CA355760601 | CCDC50 | c.54C>G (p.Cys18Trp)
| |
| 3 | g.191357092C>T | CA437420606 | CCDC50 | c.54C>T (p.Cys18=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.191357093C>A | CA437420607 | CCDC50 | c.55C>A (p.Arg19=)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191357093C= | CA1429201714 | CCDC50 | c.55C= (p.Arg19=)
| |
| 3 | g.191357093C>G | CA355760602 | CCDC50 | c.55C>G (p.Arg19Gly)
| COSMIC |
| 3 | g.191357093C>T | CA2755138 | CCDC50 | c.55C>T (p.Arg19Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191357094G>A | CA2755139 | CCDC50 | c.56G>A (p.Arg19Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191357094G>C | CA355760603 | CCDC50 | c.56G>C (p.Arg19Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191357094G= | CA1429201722 | CCDC50 | c.56G= (p.Arg19=)
| |
| 3 | g.191357094G>T | CA355760604 | CCDC50 | c.56G>T (p.Arg19Leu)
| |
| 3 | g.191357095A>C | CA437420608 | CCDC50 | c.57A>C (p.Arg19=)
| |
| 3 | g.191357095A>G | CA437420609 | CCDC50 | c.57A>G (p.Arg19=)
| gnomAD v4 COSMIC |
| 3 | g.191357095A>T | CA437420610 | CCDC50 | c.57A>T (p.Arg19=)
| |
| 3 | g.191357096G>A | CA355760605 | CCDC50 | c.58G>A (p.Asp20Asn)
| |
| 3 | g.191357096G>C | CA355760607 | CCDC50 | c.58G>C (p.Asp20His)
| COSMIC |
| 3 | g.191357096G>T | CA355760606 | CCDC50 | c.58G>T (p.Asp20Tyr)
| |
| 3 | g.191357097A>C | CA355760608 | CCDC50 | c.59A>C (p.Asp20Ala)
| |
| 3 | g.191357097A>G | CA355760609 | CCDC50 | c.59A>G (p.Asp20Gly)
| |
| 3 | g.191357097A>T | CA355760610 | CCDC50 | c.59A>T (p.Asp20Val)
| |
| 3 | g.191357098T>A | CA355760611 | CCDC50 | c.60T>A (p.Asp20Glu)
| |
| 3 | g.191357098T>C | CA437420611 | CCDC50 | c.60T>C (p.Asp20=)
| |
| 3 | g.191357098T>G | CA355760612 | CCDC50 | c.60T>G (p.Asp20Glu)
| gnomAD v4 |
| 3 | g.191357101del | CA2669071547 | CCDC50 | c.63del (p.Phe21LeufsTer?)
| gnomAD v4 |
| 3 | g.191357099T>A | CA355760613 | CCDC50 | c.61T>A (p.Phe21Ile)
| |
| 3 | g.191357099T>C | CA355760614 | CCDC50 | c.61T>C (p.Phe21Leu)
| |
| 3 | g.191357099T>G | CA355760615 | CCDC50 | c.61T>G (p.Phe21Val)
| |
| 3 | g.191357100T>A | CA355760616 | CCDC50 | c.62T>A (p.Phe21Tyr)
| |
| 3 | g.191357100T>C | CA355760617 | CCDC50 | c.62T>C (p.Phe21Ser)
| dbSNP |
| 3 | g.191357100T>G | CA355760618 | CCDC50 | c.62T>G (p.Phe21Cys)
| |
| 3 | g.191357100T= | CA1429201726 | CCDC50 | c.62T= (p.Phe21=)
| |
| 3 | g.191357101T>A | CA355760619 | CCDC50 | c.63T>A (p.Phe21Leu)
| |
| 3 | g.191357101T>C | CA437420612 | CCDC50 | c.63T>C (p.Phe21=)
| |
| 3 | g.191357101T>G | CA355760620 | CCDC50 | c.63T>G (p.Phe21Leu)
| |
| 3 | g.191357102G>A | CA355760621 | CCDC50 | c.64G>A (p.Ala22Thr)
| |
| 3 | g.191357102G>C | CA355760623 | CCDC50 | c.64G>C (p.Ala22Pro)
| |
| 3 | g.191357102G>T | CA355760622 | CCDC50 | c.64G>T (p.Ala22Ser)
| |
| 3 | g.191357103C>A | CA355760624 | CCDC50 | c.65C>A (p.Ala22Asp)
| |
| 3 | g.191357103C= | CA1429201729 | CCDC50 | c.65C= (p.Ala22=)
| |
| 3 | g.191357103C>G | CA355760625 | CCDC50 | c.65C>G (p.Ala22Gly)
| |
| 3 | g.191357103C>T | CA355760626 | CCDC50 | c.65C>T (p.Ala22Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191357104T>A | CA437420613 | CCDC50 | c.66T>A (p.Ala22=)
| |
| 3 | g.191357104T>C | CA437420615 | CCDC50 | c.66T>C (p.Ala22=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191357104T>G | CA437420614 | CCDC50 | c.66T>G (p.Ala22=)
| |
| 3 | g.191357104T= | CA1429201733 | CCDC50 | c.66T= (p.Ala22=)
| |
| 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 |
