20 | g.44186587C>A | CA409095492 | JPH2 | c.119G>T (p.Gly40Val)
| gnomAD v4 |
20 | g.44186587C>G | CA409095493 | JPH2 | c.119G>C (p.Gly40Ala)
| |
20 | g.44186587C>T | CA409095494 | JPH2 | c.119G>A (p.Gly40Asp)
| |
20 | g.44186588C>A | CA409095495 | JPH2 | c.118G>T (p.Gly40Cys)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.44186588C= | CA2365659746 | JPH2 | c.118G= (p.Gly40=)
| |
20 | g.44186588C>G | CA409095496 | JPH2 | c.118G>C (p.Gly40Arg)
| |
20 | g.44186588C>T | CA409095497 | JPH2 | c.118G>A (p.Gly40Ser)
| |
20 | g.44186589A= | CA2365659747 | JPH2 | c.117T= (p.Ser39=)
| |
20 | g.44186589A>C | CA510739930 | JPH2 | c.117T>G (p.Ser39=)
| |
20 | g.44186589A>G | CA510739931 | JPH2 | c.117T>C (p.Ser39=)
| |
20 | g.44186589A>T | CA315352263 | JPH2 | c.117T>A (p.Ser39=)
| dbSNP gnomAD v4 |
20 | g.44186590G>A | CA409095499 | JPH2 | c.116C>T (p.Ser39Phe)
| COSMIC COSMIC |
20 | g.44186590G>C | CA315352275 | JPH2 | c.116C>G (p.Ser39Cys)
| dbSNP |
20 | g.44186590G= | CA2365659748 | JPH2 | c.116C= (p.Ser39=)
| |
20 | g.44186590G>T | CA409095498 | JPH2 | c.116C>A (p.Ser39Tyr)
| gnomAD v4 |
20 | g.44186591A>C | CA409095500 | JPH2 | c.115T>G (p.Ser39Ala)
| |
20 | g.44186591A>G | CA409095501 | JPH2 | c.115T>C (p.Ser39Pro)
| |
20 | g.44186591A>T | CA409095502 | JPH2 | c.115T>A (p.Ser39Thr)
| |
20 | g.44186592G>A | CA510739932 | JPH2 | c.114C>T (p.Tyr38=)
| ClinVar dbSNP |
20 | g.44186592G>C | CA409095503 | JPH2 | c.114C>G (p.Tyr38Ter)
| |
20 | g.44186592G= | CA2365659749 | JPH2 | c.114C= (p.Tyr38=)
| |
20 | g.44186592G>T | CA409095504 | JPH2 | c.114C>A (p.Tyr38Ter)
| gnomAD v4 |
20 | g.44186593T>A | CA409095505 | JPH2 | c.113A>T (p.Tyr38Phe)
| |
20 | g.44186593T>C | CA409095506 | JPH2 | c.113A>G (p.Tyr38Cys)
| |
20 | g.44186593T>G | CA409095507 | JPH2 | c.113A>C (p.Tyr38Ser)
| |
20 | g.44186594A= | CA2365659750 | JPH2 | c.112T= (p.Tyr38=)
| |
20 | g.44186594A>C | CA409095508 | JPH2 | c.112T>G (p.Tyr38Asp)
| |
20 | g.44186594A>G | CA315352281 | JPH2 | c.112T>C (p.Tyr38His)
| dbSNP gnomAD v4 |
20 | g.44186594A>T | CA409095509 | JPH2 | c.112T>A (p.Tyr38Asn)
| gnomAD v4 |
20 | g.44186595T>A | CA409095510 | JPH2 | c.111A>T (p.Glu37Asp)
| |
20 | g.44186595T>C | CA510739933 | JPH2 | c.111A>G (p.Glu37=)
| |
20 | g.44186595T>G | CA409095511 | JPH2 | c.111A>C (p.Glu37Asp)
| dbSNP |
20 | g.44186595T= | CA2365659751 | JPH2 | c.111A= (p.Glu37=)
| |
20 | g.44186596T>A | CA409095512 | JPH2 | c.110A>T (p.Glu37Val)
| |
20 | g.44186596T>C | CA409095514 | JPH2 | c.110A>G (p.Glu37Gly)
| |
20 | g.44186596T>G | CA409095513 | JPH2 | c.110A>C (p.Glu37Ala)
| |
20 | g.44186597C>A | CA409095515 | JPH2 | c.109G>T (p.Glu37Ter)
| |
20 | g.44186597C= | CA2365659752 | JPH2 | c.109G= (p.Glu37=)
| |
20 | g.44186597C>G | CA409095516 | JPH2 | c.109G>C (p.Glu37Gln)
| ClinVar dbSNP |
20 | g.44186597C>T | CA409095517 | JPH2 | c.109G>A (p.Glu37Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.44186598G>A | CA510739934 | JPH2 | c.108C>T (p.Gly36=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.44186598G>C | CA510739935 | JPH2 | c.108C>G (p.Gly36=)
| COSMIC COSMIC |
20 | g.44186598G= | CA2365659754 | JPH2 | c.108C= (p.Gly36=)
| |
20 | g.44186598G>T | CA315352284 | JPH2 | c.108C>A (p.Gly36=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.44186598_44186599delinsGC | CA2365659753 | JPH2 | c.107_108delinsGC (p.Gly36=)
| |
20 | g.44186599C>A | CA409095518 | JPH2 | c.107G>T (p.Gly36Val)
| |
20 | g.44186599C= | CA2365659755 | JPH2 | c.107G= (p.Gly36=)
| |
20 | g.44186599C>G | CA409095519 | JPH2 | c.107G>C (p.Gly36Ala)
| |
20 | g.44186599C>T | CA9868925 | JPH2 | c.107G>A (p.Gly36Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44186601del | CA9868924 | JPH2 | c.107del (p.Gly36AlafsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.44186600C>A | CA409095520 | JPH2 | c.106G>T (p.Gly36Cys)
| |
20 | g.44186600C= | CA2365659756 | JPH2 | c.106G= (p.Gly36=)
| |
20 | g.44186600C>G | CA409095521 | JPH2 | c.106G>C (p.Gly36Arg)
| |
20 | g.44186600C>T | CA9868926 | JPH2 | c.106G>A (p.Gly36Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.44186601C>A | CA409095522 | JPH2 | c.105G>T (p.Gln35His)
| |
20 | g.44186601C>G | CA409095523 | JPH2 | c.105G>C (p.Gln35His)
| |
20 | g.44186601C>T | CA510739936 | JPH2 | c.105G>A (p.Gln35=)
| |
20 | g.44186602T>A | CA409095526 | JPH2 | c.104A>T (p.Gln35Leu)
| |
20 | g.44186602T>C | CA409095524 | JPH2 | c.104A>G (p.Gln35Arg)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.44186602T>G | CA409095525 | JPH2 | c.104A>C (p.Gln35Pro)
| |
20 | g.44186602T= | CA2365659757 | JPH2 | c.104A= (p.Gln35=)
| |
20 | g.44186603G>A | CA409095527 | JPH2 | c.103C>T (p.Gln35Ter)
| |
20 | g.44186603G>C | CA409095528 | JPH2 | c.103C>G (p.Gln35Glu)
| |
20 | g.44186603G>T | CA409095529 | JPH2 | c.103C>A (p.Gln35Lys)
| |
20 | g.44186604G>A | CA510739937 | JPH2 | c.102C>T (p.Gly34=)
| |
20 | g.44186604G>C | CA510739938 | JPH2 | c.102C>G (p.Gly34=)
| |
20 | g.44186604G>T | CA510739939 | JPH2 | c.102C>A (p.Gly34=)
| |
20 | g.44186605C>A | CA409095530 | JPH2 | c.101G>T (p.Gly34Val)
| gnomAD v4 |
20 | g.44186605C>G | CA409095531 | JPH2 | c.101G>C (p.Gly34Ala)
| |
20 | g.44186605C>T | CA409095532 | JPH2 | c.101G>A (p.Gly34Asp)
| ClinVar |
20 | g.44186606C>A | CA409095533 | JPH2 | c.100G>T (p.Gly34Cys)
| |
20 | g.44186606C>G | CA409095534 | JPH2 | c.100G>C (p.Gly34Arg)
| |
20 | g.44186606C>T | CA409095535 | JPH2 | c.100G>A (p.Gly34Ser)
| |
20 | g.44186607C>A | CA409095536 | JPH2 | c.99G>T (p.Lys33Asn)
| |
20 | g.44186607C>G | CA409095537 | JPH2 | c.99G>C (p.Lys33Asn)
| |
20 | g.44186607C>T | CA510739940 | JPH2 | c.99G>A (p.Lys33=)
| |
20 | g.44186608T>A | CA409095538 | JPH2 | c.98A>T (p.Lys33Met)
| |
20 | g.44186608T>C | CA9868927 | JPH2 | c.98A>G (p.Lys33Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44186608T>G | CA409095539 | JPH2 | c.98A>C (p.Lys33Thr)
| dbSNP gnomAD v4 |
20 | g.44186608T= | CA2365659758 | JPH2 | c.98A= (p.Lys33=)
| |
20 | g.44186609T>A | CA409095540 | JPH2 | c.97A>T (p.Lys33Ter)
| |
20 | g.44186609T>C | CA409095542 | JPH2 | c.97A>G (p.Lys33Glu)
| |
20 | g.44186609T>G | CA409095541 | JPH2 | c.97A>C (p.Lys33Gln)
| |
20 | g.44186610G>A | CA510739941 | JPH2 | c.96C>T (p.Pro32=)
| |
20 | g.44186610G>C | CA510739942 | JPH2 | c.96C>G (p.Pro32=)
| |
20 | g.44186610G>T | CA510739943 | JPH2 | c.96C>A (p.Pro32=)
| gnomAD v4 |
20 | g.44186611G>A | CA409095543 | JPH2 | c.95C>T (p.Pro32Leu)
| |
20 | g.44186611G>C | CA409095544 | JPH2 | c.95C>G (p.Pro32Arg)
| |
20 | g.44186611G= | CA2365659759 | JPH2 | c.95C= (p.Pro32=)
| |
20 | g.44186611G>T | CA9868928 | JPH2 | c.95C>A (p.Pro32His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.44186612G>A | CA409095545 | JPH2 | c.94C>T (p.Pro32Ser)
| dbSNP |
20 | g.44186612G>C | CA409095546 | JPH2 | c.94C>G (p.Pro32Ala)
| |
20 | g.44186612G= | CA2365659760 | JPH2 | c.94C= (p.Pro32=)
| |
20 | g.44186612G>T | CA409095547 | JPH2 | c.94C>A (p.Pro32Thr)
| gnomAD v4 |
20 | g.44186613G>A | CA9868929 | JPH2 | c.93C>T (p.Gly31=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.44186613G>C | CA510739945 | JPH2 | c.93C>G (p.Gly31=)
| |
20 | g.44186613G= | CA2365659761 | JPH2 | c.93C= (p.Gly31=)
| |
20 | g.44186613G>T | CA510739944 | JPH2 | c.93C>A (p.Gly31=)
| |
20 | g.44186614C>A | CA409095548 | JPH2 | c.92G>T (p.Gly31Val)
| COSMIC |
20 | g.44186614C= | CA2365659762 | JPH2 | c.92G= (p.Gly31=)
| |
20 | g.44186614C>G | CA409095549 | JPH2 | c.92G>C (p.Gly31Ala)
| |
20 | g.44186614C>T | CA409095550 | JPH2 | c.92G>A (p.Gly31Asp)
| ClinVar dbSNP gnomAD v4 |
20 | g.44186615C>A | CA409095553 | JPH2 | c.91G>T (p.Gly31Cys)
| |
20 | g.44186615C= | CA2365659763 | JPH2 | c.91G= (p.Gly31=)
| |
20 | g.44186615C>G | CA409095552 | JPH2 | c.91G>C (p.Gly31Arg)
| |
20 | g.44186615C>T | CA409095551 | JPH2 | c.91G>A (p.Gly31Ser)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.44186616T>A | CA510739946 | JPH2 | c.90A>T (p.Thr30=)
| |
20 | g.44186616T>C | CA510739947 | JPH2 | c.90A>G (p.Thr30=)
| gnomAD v4 |
20 | g.44186616T>G | CA510739948 | JPH2 | c.90A>C (p.Thr30=)
| |
20 | g.44186617G>A | CA409095554 | JPH2 | c.89C>T (p.Thr30Ile)
| |
20 | g.44186617G>C | CA409095555 | JPH2 | c.89C>G (p.Thr30Arg)
| |
20 | g.44186617G>T | CA409095556 | JPH2 | c.89C>A (p.Thr30Lys)
| |
20 | g.44186618T>A | CA409095557 | JPH2 | c.88A>T (p.Thr30Ser)
| |
20 | g.44186618T>C | CA409095558 | JPH2 | c.88A>G (p.Thr30Ala)
| |
20 | g.44186618T>G | CA409095559 | JPH2 | c.88A>C (p.Thr30Pro)
| |
20 | g.44186619G>A | CA510739949 | JPH2 | c.87C>T (p.Cys29=)
| gnomAD v4 |
20 | g.44186619G>C | CA409095560 | JPH2 | c.87C>G (p.Cys29Trp)
| |
20 | g.44186619G>T | CA409095561 | JPH2 | c.87C>A (p.Cys29Ter)
| |
20 | g.44186620C>A | CA409095562 | JPH2 | c.86G>T (p.Cys29Phe)
| gnomAD v4 |
20 | g.44186620C>G | CA409095563 | JPH2 | c.86G>C (p.Cys29Ser)
| |
20 | g.44186620C>T | CA409095564 | JPH2 | c.86G>A (p.Cys29Tyr)
| gnomAD v4 |
20 | g.44186621A>C | CA409095566 | JPH2 | c.85T>G (p.Cys29Gly)
| |
20 | g.44186621A>G | CA409095567 | JPH2 | c.85T>C (p.Cys29Arg)
| |
20 | g.44186621A>T | CA409095565 | JPH2 | c.85T>A (p.Cys29Ser)
| |
20 | g.44186622C>A | CA510739950 | JPH2 | c.84G>T (p.Leu28=)
| |
20 | g.44186622C>G | CA510739951 | JPH2 | c.84G>C (p.Leu28=)
| |
20 | g.44186622C>T | CA510739952 | JPH2 | c.84G>A (p.Leu28=)
| |
20 | g.44186623A>C | CA409095568 | JPH2 | c.83T>G (p.Leu28Arg)
| |
20 | g.44186623A>G | CA409095569 | JPH2 | c.83T>C (p.Leu28Pro)
| |
20 | g.44186623A>T | CA409095570 | JPH2 | c.83T>A (p.Leu28Gln)
| gnomAD v4 |
20 | g.44186624G>A | CA510739953 | JPH2 | c.82C>T (p.Leu28=)
| gnomAD v4 |
20 | g.44186624G>C | CA409095571 | JPH2 | c.82C>G (p.Leu28Val)
| |
20 | g.44186624G>T | CA409095572 | JPH2 | c.82C>A (p.Leu28Met)
| |
20 | g.44186625T>A | CA510739954 | JPH2 | c.81A>T (p.Gly27=)
| |
20 | g.44186625T>C | CA510739955 | JPH2 | c.81A>G (p.Gly27=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.44186625T>G | CA510739956 | JPH2 | c.81A>C (p.Gly27=)
| |
20 | g.44186625T= | CA2365659764 | JPH2 | c.81A= (p.Gly27=)
| |
20 | g.44186626C>A | CA409095573 | JPH2 | c.80G>T (p.Gly27Val)
| gnomAD v4 |
20 | g.44186626C>G | CA409095574 | JPH2 | c.80G>C (p.Gly27Ala)
| |
20 | g.44186626C>T | CA409095575 | JPH2 | c.80G>A (p.Gly27Glu)
| |
20 | g.44186627C>A | CA409095576 | JPH2 | c.79G>T (p.Gly27Ter)
| |
20 | g.44186627C>G | CA409095577 | JPH2 | c.79G>C (p.Gly27Arg)
| |
20 | g.44186627C>T | CA409095578 | JPH2 | c.79G>A (p.Gly27Arg)
| |
20 | g.44186628A= | CA2365659765 | JPH2 | c.78T= (p.His26=)
| |
20 | g.44186628A>C | CA409095579 | JPH2 | c.78T>G (p.His26Gln)
| |
20 | g.44186628A>G | CA510739957 | JPH2 | c.78T>C (p.His26=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.44186628A>T | CA409095580 | JPH2 | c.78T>A (p.His26Gln)
| |
20 | g.44186629T>A | CA409095582 | JPH2 | c.77A>T (p.His26Leu)
| |
20 | g.44186629T>C | CA9868930 | JPH2 | c.77A>G (p.His26Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44186629T>G | CA409095581 | JPH2 | c.77A>C (p.His26Pro)
| |
20 | g.44186629T= | CA2365659766 | JPH2 | c.77A= (p.His26=)
| |
20 | g.44186630G>A | CA409095583 | JPH2 | c.76C>T (p.His26Tyr)
| dbSNP gnomAD v2 |
20 | g.44186630G>C | CA409095584 | JPH2 | c.76C>G (p.His26Asp)
| |
20 | g.44186630G= | CA2365659767 | JPH2 | c.76C= (p.His26=)
| |
20 | g.44186630G>T | CA409095585 | JPH2 | c.76C>A (p.His26Asn)
| gnomAD v4 |
20 | g.44186631C>A | CA510739958 | JPH2 | c.75G>T (p.Gly25=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.44186631C= | CA2365659768 | JPH2 | c.75G= (p.Gly25=)
| |
20 | g.44186631C>G | CA510739959 | JPH2 | c.75G>C (p.Gly25=)
| |
20 | g.44186631C>T | CA510739960 | JPH2 | c.75G>A (p.Gly25=)
| |
20 | g.44186632C>A | CA409095586 | JPH2 | c.74G>T (p.Gly25Val)
| gnomAD v4 |
20 | g.44186632C>G | CA409095587 | JPH2 | c.74G>C (p.Gly25Ala)
| |
20 | g.44186632C>T | CA409095588 | JPH2 | c.74G>A (p.Gly25Glu)
| |
20 | g.44186633C>A | CA409095589 | JPH2 | c.73G>T (p.Gly25Trp)
| |
20 | g.44186633C= | CA2365659769 | JPH2 | c.73G= (p.Gly25=)
| |
20 | g.44186633C>G | CA409095590 | JPH2 | c.73G>C (p.Gly25Arg)
| |
20 | g.44186633C>T | CA409095591 | JPH2 | c.73G>A (p.Gly25Arg)
| dbSNP |
20 | g.44186634A= | CA2365659770 | JPH2 | c.72T= (p.His24=)
| |
20 | g.44186634A>C | CA409095592 | JPH2 | c.72T>G (p.His24Gln)
| |
20 | g.44186634A>G | CA9868931 | JPH2 | c.72T>C (p.His24=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44186634A>T | CA409095593 | JPH2 | c.72T>A (p.His24Gln)
| |
20 | g.44186635T>A | CA409095594 | JPH2 | c.71A>T (p.His24Leu)
| |
20 | g.44186635T>C | CA409095596 | JPH2 | c.71A>G (p.His24Arg)
| |
20 | g.44186635T>G | CA409095595 | JPH2 | c.71A>C (p.His24Pro)
| |
20 | g.44186636G>A | CA409095597 | JPH2 | c.70C>T (p.His24Tyr)
| |
20 | g.44186636G>C | CA409095599 | JPH2 | c.70C>G (p.His24Asp)
| |
20 | g.44186636G>T | CA409095598 | JPH2 | c.70C>A (p.His24Asn)
| gnomAD v4 |
20 | g.44186638del | CA2652958158 | JPH2 | c.70del (p.His24MetfsTer?)
| gnomAD v4 |
20 | g.44186637G>A | CA510739963 | JPH2 | c.69C>T (p.Ala23=)
| |
20 | g.44186637G>C | CA510739962 | JPH2 | c.69C>G (p.Ala23=)
| |
20 | g.44186637G>T | CA510739961 | JPH2 | c.69C>A (p.Ala23=)
| gnomAD v4 |
20 | g.44186638G>A | CA9868932 | JPH2 | c.68C>T (p.Ala23Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.44186638G>C | CA409095601 | JPH2 | c.68C>G (p.Ala23Gly)
| |
20 | g.44186638G= | CA2365659771 | JPH2 | c.68C= (p.Ala23=)
| |
20 | g.44186638G>T | CA409095600 | JPH2 | c.68C>A (p.Ala23Asp)
| gnomAD v4 |
20 | g.44186639C>A | CA409095602 | JPH2 | c.67G>T (p.Ala23Ser)
| |
20 | g.44186639C>G | CA409095604 | JPH2 | c.67G>C (p.Ala23Pro)
| |
20 | g.44186639C>T | CA409095603 | JPH2 | c.67G>A (p.Ala23Thr)
| ClinVar |
20 | g.44186640C>A | CA409095605 | JPH2 | c.66G>T (p.Lys22Asn)
| |
20 | g.44186640C>G | CA409095606 | JPH2 | c.66G>C (p.Lys22Asn)
| |
20 | g.44186640C>T | CA510739964 | JPH2 | c.66G>A (p.Lys22=)
| |
20 | g.44186641T>A | CA409095607 | JPH2 | c.65A>T (p.Lys22Met)
| |
20 | g.44186641T>C | CA409095608 | JPH2 | c.65A>G (p.Lys22Arg)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.44186641T>G | CA409095609 | JPH2 | c.65A>C (p.Lys22Thr)
| |
20 | g.44186641T= | CA2365659772 | JPH2 | c.65A= (p.Lys22=)
| |
20 | g.44186642T>A | CA409095610 | JPH2 | c.64A>T (p.Lys22Ter)
| |
20 | g.44186642T>C | CA409095611 | JPH2 | c.64A>G (p.Lys22Glu)
| |
20 | g.44186642T>G | CA409095612 | JPH2 | c.64A>C (p.Lys22Gln)
| |
20 | g.44186643T>A | CA510739965 | JPH2 | c.63A>T (p.Gly21=)
| |
20 | g.44186643T>C | CA510739966 | JPH2 | c.63A>G (p.Gly21=)
| dbSNP gnomAD v4 |
20 | g.44186643T>G | CA510739967 | JPH2 | c.63A>C (p.Gly21=)
| |
20 | g.44186643T= | CA2365659774 | JPH2 | c.63A= (p.Gly21=)
| |
20 | g.44186643_44186644delinsTC | CA2365659773 | JPH2 | c.62_63delinsGA (p.Gly21=)
| |
20 | g.44186643_44186644insG | CA2652958159 | JPH2 | c.62_63insC (p.Ala23GlyfsTer25)
| gnomAD v4 |
20 | g.44186643_44186644insGC | CA2652958160 | JPH2 | c.62_63insGC (p.Lys22GlnfsTer?)
| gnomAD v4 |
20 | g.44186643_44186644insGCCCC | CA2652958161 | JPH2 | c.62_63insGGGGC (p.Lys22GlyfsTer?)
| gnomAD v4 |
20 | g.44186644C>A | CA409095613 | JPH2 | c.62G>T (p.Gly21Val)
| gnomAD v4 |
20 | g.44186644C= | CA2365659775 | JPH2 | c.62G= (p.Gly21=)
| |
20 | g.44186644C>G | CA409095614 | JPH2 | c.62G>C (p.Gly21Ala)
| gnomAD v4 |
20 | g.44186644C>T | CA409095615 | JPH2 | c.62G>A (p.Gly21Glu)
| ClinVar dbSNP gnomAD v4 |
20 | g.44186649_44186650insCCCCCCCCC | CA1017806299 | JPH2 | c.62_63insGGGGGGGGG (p.Gly21_Lys22insGlyGlyGly)
| gnomAD v3 gnomAD v4 |
20 | g.44186649dup | CA636173690 | JPH2 | c.62dup (p.Ala23GlyfsTer25)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44186649del | CA645616005 | JPH2 | c.62del (p.Gly21GlufsTer?)
| dbSNP gnomAD v4 COSMIC COSMIC |
20 | g.44186645C>A | CA409095616 | JPH2 | c.61G>T (p.Gly21Ter)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.44186645C= | CA2365659776 | JPH2 | c.61G= (p.Gly21=)
| |
20 | g.44186645C>G | CA409095617 | JPH2 | c.61G>C (p.Gly21Arg)
| |
20 | g.44186645C>T | CA409095618 | JPH2 | c.61G>A (p.Gly21Arg)
| |
20 | g.44186646C>A | CA510739968 | JPH2 | c.60G>T (p.Gly20=)
| |
20 | g.44186646C>G | CA510739969 | JPH2 | c.60G>C (p.Gly20=)
| |
20 | g.44186646C>T | CA510739970 | JPH2 | c.60G>A (p.Gly20=)
| gnomAD v4 |
20 | g.44186647C>A | CA409095621 | JPH2 | c.59G>T (p.Gly20Val)
| |
20 | g.44186647C>G | CA409095619 | JPH2 | c.59G>C (p.Gly20Ala)
| gnomAD v4 |
20 | g.44186647C>T | CA409095620 | JPH2 | c.59G>A (p.Gly20Glu)
| gnomAD v4 |
20 | g.44186647_44186648delinsAA | CA645616006 | JPH2 | c.58_59delinsTT (p.Gly20Leu)
| COSMIC COSMIC |
20 | g.44186648C>A | CA409095622 | JPH2 | c.58G>T (p.Gly20Trp)
| ClinVar gnomAD v4 |
20 | g.44186648C= | CA2365659777 | JPH2 | c.58G= (p.Gly20=)
| |
20 | g.44186648C>G | CA315352310 | JPH2 | c.58G>C (p.Gly20Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44186648C>T | CA409095623 | JPH2 | c.58G>A (p.Gly20Arg)
| ClinVar dbSNP gnomAD v4 |
20 | g.44186649C>A | CA315352315 | JPH2 | c.57G>T (p.Glu19Asp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44186649C= | CA2365659778 | JPH2 | c.57G= (p.Glu19=)
| |
20 | g.44186649C>G | CA409095624 | JPH2 | c.57G>C (p.Glu19Asp)
| |
20 | g.44186649C>T | CA510739971 | JPH2 | c.57G>A (p.Glu19=)
| gnomAD v4 COSMIC COSMIC |
20 | g.44186650T>A | CA409095625 | JPH2 | c.56A>T (p.Glu19Val)
| dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.44186650T>C | CA409095626 | JPH2 | c.56A>G (p.Glu19Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44186650T>G | CA409095627 | JPH2 | c.56A>C (p.Glu19Ala)
| gnomAD v4 |
20 | g.44186650T= | CA2365659779 | JPH2 | c.56A= (p.Glu19=)
| |
20 | g.44186650_44186654del | CA2652958162 | JPH2 | c.52_56del (p.Trp18GlyfsTer28)
| gnomAD v4 |
20 | g.44186650_44186655del | CA1017806313 | JPH2 | c.51_56del (p.Trp18_Glu19del)
| gnomAD v3 gnomAD v4 |
20 | g.44186651C>A | CA409095628 | JPH2 | c.55G>T (p.Glu19Ter)
| |
20 | g.44186651C= | CA2365659780 | JPH2 | c.55G= (p.Glu19=)
| |
20 | g.44186651C>G | CA409095629 | JPH2 | c.55G>C (p.Glu19Gln)
| |
20 | g.44186651C>T | CA409095630 | JPH2 | c.55G>A (p.Glu19Lys)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.44186653del | CA2695229759 | JPH2 | c.55del (p.Glu19ArgfsTer?)
| |
20 | g.44186652C>A | CA409095633 | JPH2 | c.54G>T (p.Trp18Cys)
| |
20 | g.44186652C>G | CA409095632 | JPH2 | c.54G>C (p.Trp18Cys)
| |
20 | g.44186652C>T | CA409095631 | JPH2 | c.54G>A (p.Trp18Ter)
| |
20 | g.44186653C>A | CA409095636 | JPH2 | c.53G>T (p.Trp18Leu)
| gnomAD v4 |
20 | g.44186653C>G | CA409095634 | JPH2 | c.53G>C (p.Trp18Ser)
| |
20 | g.44186653C>T | CA409095635 | JPH2 | c.53G>A (p.Trp18Ter)
| |
20 | g.44186654A= | CA2365659781 | JPH2 | c.52T= (p.Trp18=)
| |
20 | g.44186654A>C | CA409095637 | JPH2 | c.52T>G (p.Trp18Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44186654A>G | CA409095638 | JPH2 | c.52T>C (p.Trp18Arg)
| |
20 | g.44186654A>T | CA409095639 | JPH2 | c.52T>A (p.Trp18Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.44186654_44186655del | CA1017806319 | JPH2 | c.51_52del (p.Trp18GlyfsTer29)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.44186655G>A | CA510739972 | JPH2 | c.51C>T (p.Gly17=)
| gnomAD v3 gnomAD v4 |
20 | g.44186655G>C | CA510739973 | JPH2 | c.51C>G (p.Gly17=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44186655G= | CA2365659782 | JPH2 | c.51C= (p.Gly17=)
| |
20 | g.44186655G>T | CA510739974 | JPH2 | c.51C>A (p.Gly17=)
| gnomAD v4 |
20 | g.44186656C>A | CA409095642 | JPH2 | c.50G>T (p.Gly17Val)
| ClinVar gnomAD v4 |
20 | g.44186656C= | CA2365659783 | JPH2 | c.50G= (p.Gly17=)
| |
20 | g.44186656C>G | CA409095641 | JPH2 | c.50G>C (p.Gly17Ala)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.44186656C>T | CA409095640 | JPH2 | c.50G>A (p.Gly17Asp)
| dbSNP gnomAD v4 |
20 | g.44186660del | CA2652958163 | JPH2 | c.50del (p.Gly17AlafsTer?)
| gnomAD v4 |
20 | g.44186657C>A | CA409095643 | JPH2 | c.49G>T (p.Gly17Cys)
| COSMIC COSMIC |
20 | g.44186657C>G | CA409095644 | JPH2 | c.49G>C (p.Gly17Arg)
| |
20 | g.44186657C>T | CA409095645 | JPH2 | c.49G>A (p.Gly17Ser)
| gnomAD v4 |
20 | g.44186658C>A | CA315352318 | JPH2 | c.48G>T (p.Gly16=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44186658C= | CA2365659784 | JPH2 | c.48G= (p.Gly16=)
| |
20 | g.44186658C>G | CA510571511 | JPH2 | c.48G>C (p.Gly16=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.44186658C>T | CA510571512 | JPH2 | c.48G>A (p.Gly16=)
| |
20 | g.44186659C>A | CA409095646 | JPH2 | c.47G>T (p.Gly16Val)
| |
20 | g.44186659C>G | CA409095647 | JPH2 | c.47G>C (p.Gly16Ala)
| |
20 | g.44186659C>T | CA409095648 | JPH2 | c.47G>A (p.Gly16Glu)
| |
20 | g.44186660C>A | CA409095649 | JPH2 | c.46G>T (p.Gly16Trp)
| |
20 | g.44186660C>G | CA409095651 | JPH2 | c.46G>C (p.Gly16Arg)
| |
20 | g.44186660C>T | CA409095650 | JPH2 | c.46G>A (p.Gly16Arg)
| gnomAD v4 |
20 | g.44186661G>A | CA9868933 | JPH2 | c.45C>T (p.Cys15=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.44186661G>C | CA409095652 | JPH2 | c.45C>G (p.Cys15Trp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44186661G= | CA2365659785 | JPH2 | c.45C= (p.Cys15=)
| |
20 | g.44186661G>T | CA409095653 | JPH2 | c.45C>A (p.Cys15Ter)
| |
20 | g.44186661_44186666del | CA2816465005 | JPH2 | c.40_45del (p.Tyr14_Cys15del)
| |
20 | g.44186662C>A | CA409095654 | JPH2 | c.44G>T (p.Cys15Phe)
| |
20 | g.44186662C>G | CA409095655 | JPH2 | c.44G>C (p.Cys15Ser)
| |
20 | g.44186662C>T | CA409095656 | JPH2 | c.44G>A (p.Cys15Tyr)
| |
20 | g.44186662_44186663insCGG | CA1017806335 | JPH2 | c.43_44insCCG (p.Cys15delinsSerGly)
| gnomAD v3 gnomAD v4 |
20 | g.44186663A= | CA2365659786 | JPH2 | c.43T= (p.Cys15=)
| |
20 | g.44186663A>C | CA409095657 | JPH2 | c.43T>G (p.Cys15Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44186663A>G | CA409095658 | JPH2 | c.43T>C (p.Cys15Arg)
| |
20 | g.44186663A>T | CA409095659 | JPH2 | c.43T>A (p.Cys15Ser)
| |
20 | g.44186664G>A | CA510571513 | JPH2 | c.42C>T (p.Tyr14=)
| |
20 | g.44186664G>C | CA409095660 | JPH2 | c.42C>G (p.Tyr14Ter)
| |
20 | g.44186664G>T | CA409095661 | JPH2 | c.42C>A (p.Tyr14Ter)
| |
20 | g.44186665T>A | CA409095663 | JPH2 | c.41A>T (p.Tyr14Phe)
| |
20 | g.44186665T>C | CA409095664 | JPH2 | c.41A>G (p.Tyr14Cys)
| |
20 | g.44186665T>G | CA409095662 | JPH2 | c.41A>C (p.Tyr14Ser)
| gnomAD v3 gnomAD v4 |
20 | g.44186666A>C | CA409095665 | JPH2 | c.40T>G (p.Tyr14Asp)
| |
20 | g.44186666A>G | CA409095666 | JPH2 | c.40T>C (p.Tyr14His)
| |
20 | g.44186666A>T | CA409095667 | JPH2 | c.40T>A (p.Tyr14Asn)
| |
20 | g.44186667C>A | CA9868934 | JPH2 | c.39G>T (p.Ala13=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44186667C= | CA2365659787 | JPH2 | c.39G= (p.Ala13=)
| |
20 | g.44186667C>G | CA510571515 | JPH2 | c.39G>C (p.Ala13=)
| |
20 | g.44186667C>T | CA510571514 | JPH2 | c.39G>A (p.Ala13=)
| gnomAD v4 |
20 | g.44186668G>A | CA409095668 | JPH2 | c.38C>T (p.Ala13Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44186668G>C | CA409095669 | JPH2 | c.38C>G (p.Ala13Gly)
| gnomAD v3 gnomAD v4 |
20 | g.44186668G= | CA2365659789 | JPH2 | c.38C= (p.Ala13=)
| |
20 | g.44186668G>T | CA409095670 | JPH2 | c.38C>A (p.Ala13Glu)
| gnomAD v4 |
20 | g.44186668_44186669delinsGC | CA2365659788 | JPH2 | c.37_38delinsGC (p.Ala13=)
| |
20 | g.44186669C>A | CA409095671 | JPH2 | c.37G>T (p.Ala13Ser)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.44186669C= | CA2365659790 | JPH2 | c.37G= (p.Ala13=)
| |
20 | g.44186669C>G | CA409095672 | JPH2 | c.37G>C (p.Ala13Pro)
| |
20 | g.44186669C>T | CA409095673 | JPH2 | c.37G>A (p.Ala13Thr)
| dbSNP gnomAD v4 |
20 | g.44186672del | CA744677074 | JPH2 | c.37del (p.Ala13ArgfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.44186670C>A | CA510571516 | JPH2 | c.36G>T (p.Gly12=)
| |
20 | g.44186670C>G | CA510571517 | JPH2 | c.36G>C (p.Gly12=)
| |
20 | g.44186670C>T | CA510571518 | JPH2 | c.36G>A (p.Gly12=)
| |
20 | g.44186671C>A | CA409095674 | JPH2 | c.35G>T (p.Gly12Val)
| |
20 | g.44186671C>G | CA409095675 | JPH2 | c.35G>C (p.Gly12Ala)
| |
20 | g.44186671C>T | CA409095676 | JPH2 | c.35G>A (p.Gly12Glu)
| ClinVar |
20 | g.44186672C>A | CA409095678 | JPH2 | c.34G>T (p.Gly12Trp)
| |
20 | g.44186672C= | CA2365659791 | JPH2 | c.34G= (p.Gly12=)
| |
20 | g.44186672C>G | CA409095677 | JPH2 | c.34G>C (p.Gly12Arg)
| |
20 | g.44186672C>T | CA9868935 | JPH2 | c.34G>A (p.Gly12Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.44186673del | CA1017806353 | JPH2 | c.33del (p.Ala13ArgfsTer?)
| gnomAD v3 gnomAD v4 |
20 | g.44186673T>A | CA510571519 | JPH2 | c.33A>T (p.Gly11=)
| gnomAD v4 |
20 | g.44186673T>C | CA510571521 | JPH2 | c.33A>G (p.Gly11=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.44186673T>G | CA510571520 | JPH2 | c.33A>C (p.Gly11=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.44186673T= | CA2365659792 | JPH2 | c.33A= (p.Gly11=)
| |
20 | g.44186674C>A | CA409095679 | JPH2 | c.32G>T (p.Gly11Val)
| gnomAD v4 |
20 | g.44186674C>G | CA409095680 | JPH2 | c.32G>C (p.Gly11Ala)
| gnomAD v4 |
20 | g.44186674C>T | CA409095681 | JPH2 | c.32G>A (p.Gly11Glu)
| COSMIC COSMIC |
20 | g.44186675C>A | CA409095682 | JPH2 | c.31G>T (p.Gly11Ter)
| |
20 | g.44186675C= | CA2365659793 | JPH2 | c.31G= (p.Gly11=)
| |
20 | g.44186675C>G | CA409095683 | JPH2 | c.31G>C (p.Gly11Arg)
| |
20 | g.44186675C>T | CA409095684 | JPH2 | c.31G>A (p.Gly11Arg)
| dbSNP |
20 | g.44186676A= | CA2365659794 | JPH2 | c.30T= (p.Asp10=)
| |
20 | g.44186676A>C | CA409095685 | JPH2 | c.30T>G (p.Asp10Glu)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.44186676A>G | CA9868936 | JPH2 | c.30T>C (p.Asp10=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.44186676A>T | CA409095686 | JPH2 | c.30T>A (p.Asp10Glu)
| |
20 | g.44186677T>A | CA409095687 | JPH2 | c.29A>T (p.Asp10Val)
| gnomAD v3 gnomAD v4 |
20 | g.44186677T>C | CA409095688 | JPH2 | c.29A>G (p.Asp10Gly)
| |
20 | g.44186677T>G | CA409095689 | JPH2 | c.29A>C (p.Asp10Ala)
| |
20 | g.44186678C>A | CA409095690 | JPH2 | c.28G>T (p.Asp10Tyr)
| |
20 | g.44186678C>G | CA409095692 | JPH2 | c.28G>C (p.Asp10His)
| |
20 | g.44186678C>T | CA409095691 | JPH2 | c.28G>A (p.Asp10Asn)
| gnomAD v4 |
20 | g.44186679A>C | CA409095693 | JPH2 | c.27T>G (p.Asp9Glu)
| gnomAD v3 gnomAD v4 |
20 | g.44186679A>G | CA510571522 | JPH2 | c.27T>C (p.Asp9=)
| |
20 | g.44186679A>T | CA409095694 | JPH2 | c.27T>A (p.Asp9Glu)
| |
20 | g.44186680T>A | CA409095695 | JPH2 | c.26A>T (p.Asp9Val)
| gnomAD v4 |
20 | g.44186680T>C | CA409095696 | JPH2 | c.26A>G (p.Asp9Gly)
| |
20 | g.44186680T>G | CA409095697 | JPH2 | c.26A>C (p.Asp9Ala)
| |
20 | g.44186681C>A | CA409095698 | JPH2 | c.25G>T (p.Asp9Tyr)
| |
20 | g.44186681C= | CA2365659795 | JPH2 | c.25G= (p.Asp9=)
| |
20 | g.44186681C>G | CA409095699 | JPH2 | c.25G>C (p.Asp9His)
| |
20 | g.44186681C>T | CA409095700 | JPH2 | c.25G>A (p.Asp9Asn)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.44186682A>C | CA409095701 | JPH2 | c.24T>G (p.Phe8Leu)
| gnomAD v3 gnomAD v4 |
20 | g.44186682A>G | CA510571523 | JPH2 | c.24T>C (p.Phe8=)
| gnomAD v4 |
20 | g.44186682A>T | CA409095702 | JPH2 | c.24T>A (p.Phe8Leu)
| |
20 | g.44186683A= | CA2365659796 | JPH2 | c.23T= (p.Phe8=)
| |
20 | g.44186683A>C | CA409095703 | JPH2 | c.23T>G (p.Phe8Cys)
| |
20 | g.44186683A>G | CA409095704 | JPH2 | c.23T>C (p.Phe8Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.44186683A>T | CA409095705 | JPH2 | c.23T>A (p.Phe8Tyr)
| |
20 | g.44186684A>C | CA409095706 | JPH2 | c.22T>G (p.Phe8Val)
| |
20 | g.44186684A>G | CA409095708 | JPH2 | c.22T>C (p.Phe8Leu)
| |
20 | g.44186684A>T | CA409095707 | JPH2 | c.22T>A (p.Phe8Ile)
| |
20 | g.44186685G>A | CA510571524 | JPH2 | c.21C>T (p.Asp7=)
| gnomAD v4 |
20 | g.44186685G>C | CA409095709 | JPH2 | c.21C>G (p.Asp7Glu)
| |
20 | g.44186685G>T | CA409095710 | JPH2 | c.21C>A (p.Asp7Glu)
| |
20 | g.44186686T>A | CA409095711 | JPH2 | c.20A>T (p.Asp7Val)
| |
20 | g.44186686T>C | CA409095712 | JPH2 | c.20A>G (p.Asp7Gly)
| |
20 | g.44186686T>G | CA409095713 | JPH2 | c.20A>C (p.Asp7Ala)
| |
20 | g.44186687C>A | CA409095714 | JPH2 | c.19G>T (p.Asp7Tyr)
| gnomAD v4 |
20 | g.44186687C= | CA2365659797 | JPH2 | c.19G= (p.Asp7=)
| |
20 | g.44186687C>G | CA409095715 | JPH2 | c.19G>C (p.Asp7His)
| |
20 | g.44186687C>T | CA409095716 | JPH2 | c.19G>A (p.Asp7Asn)
| dbSNP |