20 | g.3083079G>A | CA408061683 | AVP | c.220C>T (p.Arg74Cys)
| gnomAD v4 |
20 | g.3083079G>C | CA408061685 | AVP | c.220C>G (p.Arg74Gly)
| |
20 | g.3083079G>T | CA408061684 | AVP | c.220C>A (p.Arg74Ser)
| gnomAD v4 |
20 | g.3083080C>A | CA509554698 | AVP | c.219G>T (p.Leu73=)
| gnomAD v4 |
20 | g.3083080C>G | CA509554699 | AVP | c.219G>C (p.Leu73=)
| |
20 | g.3083080C>T | CA509554700 | AVP | c.219G>A (p.Leu73=)
| gnomAD v4 |
20 | g.3083081A>C | CA408061686 | AVP | c.218T>G (p.Leu73Arg)
| gnomAD v4 |
20 | g.3083081A>G | CA408061687 | AVP | c.218T>C (p.Leu73Pro)
| ClinVar gnomAD v4 |
20 | g.3083081A>T | CA408061688 | AVP | c.218T>A (p.Leu73Gln)
| |
20 | g.3083082G>A | CA509554703 | AVP | c.217C>T (p.Leu73=)
| gnomAD v4 |
20 | g.3083082G>C | CA408061689 | AVP | c.217C>G (p.Leu73Val)
| |
20 | g.3083082G>T | CA408061690 | AVP | c.217C>A (p.Leu73Met)
| gnomAD v4 |
20 | g.3083083C>A | CA509554704 | AVP | c.216G>T (p.Ala72=)
| gnomAD v4 |
20 | g.3083083C>G | CA509554705 | AVP | c.216G>C (p.Ala72=)
| |
20 | g.3083083C>T | CA509554706 | AVP | c.216G>A (p.Ala72=)
| gnomAD v4 |
20 | g.3083084G>A | CA408061691 | AVP | c.215C>T (p.Ala72Val)
| gnomAD v4 |
20 | g.3083084G>C | CA408061692 | AVP | c.215C>G (p.Ala72Gly)
| dbSNP |
20 | g.3083084G= | CA2346405571 | AVP | c.215C= (p.Ala72=)
| |
20 | g.3083084G>T | CA408061693 | AVP | c.215C>A (p.Ala72Glu)
| gnomAD v4 |
20 | g.3083085C>A | CA408061694 | AVP | c.214G>T (p.Ala72Ser)
| gnomAD v4 |
20 | g.3083085C>G | CA408061695 | AVP | c.214G>C (p.Ala72Pro)
| |
20 | g.3083085C>T | CA408061696 | AVP | c.214G>A (p.Ala72Thr)
| gnomAD v4 |
20 | g.3083086C>A | CA408061698 | AVP | c.213G>T (p.Glu71Asp)
| gnomAD v4 |
20 | g.3083086C>G | CA408061697 | AVP | c.213G>C (p.Glu71Asp)
| |
20 | g.3083086C>T | CA509554710 | AVP | c.213G>A (p.Glu71=)
| gnomAD v4 |
20 | g.3083087T>A | CA408061699 | AVP | c.212A>T (p.Glu71Val)
| |
20 | g.3083087T>C | CA408061700 | AVP | c.212A>G (p.Glu71Gly)
| gnomAD v4 |
20 | g.3083087T>G | CA408061701 | AVP | c.212A>C (p.Glu71Ala)
| |
20 | g.3083088C>A | CA408061702 | AVP | c.211G>T (p.Glu71Ter)
| gnomAD v4 |
20 | g.3083088C>G | CA408061703 | AVP | c.211G>C (p.Glu71Gln)
| |
20 | g.3083088C>T | CA408061704 | AVP | c.211G>A (p.Glu71Lys)
| gnomAD v4 |
20 | g.3083089A>C | CA509554711 | AVP | c.210T>G (p.Ala70=)
| |
20 | g.3083089A>G | CA509554712 | AVP | c.210T>C (p.Ala70=)
| gnomAD v4 |
20 | g.3083089A>T | CA509554713 | AVP | c.210T>A (p.Ala70=)
| gnomAD v4 |
20 | g.3083090G>A | CA408061705 | AVP | c.209C>T (p.Ala70Val)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3083090G>C | CA408061706 | AVP | c.209C>G (p.Ala70Gly)
| |
20 | g.3083090G= | CA2346405572 | AVP | c.209C= (p.Ala70=)
| |
20 | g.3083090G>T | CA408061707 | AVP | c.209C>A (p.Ala70Asp)
| gnomAD v4 |
20 | g.3083091_3083093del | CA2695229216 | AVP | c.207_209del (p.Ala70del)
| |
20 | g.3083091C>A | CA408061708 | AVP | c.208G>T (p.Ala70Ser)
| gnomAD v4 |
20 | g.3083091C= | CA2346405573 | AVP | c.208G= (p.Ala70=)
| |
20 | g.3083091C>G | CA408061709 | AVP | c.208G>C (p.Ala70Pro)
| gnomAD v4 |
20 | g.3083091C>T | CA9739457 | AVP | c.208G>A (p.Ala70Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3083092C>A | CA509554714 | AVP | c.207G>T (p.Thr69=)
| dbSNP gnomAD v4 |
20 | g.3083092C= | CA2346405574 | AVP | c.207G= (p.Thr69=)
| |
20 | g.3083092C>G | CA9739458 | AVP | c.207G>C (p.Thr69=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083092C>T | CA9739459 | AVP | c.207G>A (p.Thr69=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3083093G>A | CA408061710 | AVP | c.206C>T (p.Thr69Met)
| gnomAD v4 |
20 | g.3083093G>C | CA408061711 | AVP | c.206C>G (p.Thr69Arg)
| |
20 | g.3083093G>T | CA408061712 | AVP | c.206C>A (p.Thr69Lys)
| gnomAD v4 |
20 | g.3083094T>A | CA408061713 | AVP | c.205A>T (p.Thr69Ser)
| dbSNP gnomAD v4 |
20 | g.3083094T>C | CA408061714 | AVP | c.205A>G (p.Thr69Ala)
| gnomAD v4 |
20 | g.3083094T>G | CA408061715 | AVP | c.205A>C (p.Thr69Pro)
| |
20 | g.3083094T= | CA2346405575 | AVP | c.205A= (p.Thr69=)
| |
20 | g.3083095G>A | CA509554715 | AVP | c.204C>T (p.Gly68=)
| gnomAD v4 |
20 | g.3083095G>C | CA509554716 | AVP | c.204C>G (p.Gly68=)
| |
20 | g.3083095G>T | CA509554717 | AVP | c.204C>A (p.Gly68=)
| gnomAD v4 |
20 | g.3083096C>A | CA408061716 | AVP | c.203G>T (p.Gly68Val)
| gnomAD v4 |
20 | g.3083096C>G | CA408061717 | AVP | c.203G>C (p.Gly68Ala)
| |
20 | g.3083096C>T | CA408061718 | AVP | c.203G>A (p.Gly68Asp)
| gnomAD v4 |
20 | g.3083098del | CA2840430223 | AVP | c.203del (p.Gly68AlafsTer?)
| |
20 | g.3083097C>A | CA408061719 | AVP | c.202G>T (p.Gly68Cys)
| gnomAD v4 |
20 | g.3083097C= | CA2346405576 | AVP | c.202G= (p.Gly68=)
| |
20 | g.3083097C>G | CA9739460 | AVP | c.202G>C (p.Gly68Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083097C>T | CA408061720 | AVP | c.202G>A (p.Gly68Ser)
| gnomAD v4 |
20 | g.3083098C>A | CA509554718 | AVP | c.201G>T (p.Val67=)
| gnomAD v4 |
20 | g.3083098C>G | CA509554719 | AVP | c.201G>C (p.Val67=)
| |
20 | g.3083098C>T | CA509554720 | AVP | c.201G>A (p.Val67=)
| gnomAD v4 |
20 | g.3083099A= | CA2346405577 | AVP | c.200T= (p.Val67=)
| |
20 | g.3083099A>C | CA408061722 | AVP | c.200T>G (p.Val67Gly)
| |
20 | g.3083099A>G | CA121972 | AVP | c.200T>C (p.Val67Ala)
| ClinVar dbSNP gnomAD v4 |
20 | g.3083099A>T | CA408061721 | AVP | c.200T>A (p.Val67Glu)
| gnomAD v4 |
20 | g.3083100C>A | CA408061723 | AVP | c.199G>T (p.Val67Leu)
| gnomAD v4 |
20 | g.3083100C= | CA2346405578 | AVP | c.199G= (p.Val67=)
| |
20 | g.3083100C>G | CA408061724 | AVP | c.199G>C (p.Val67Leu)
| |
20 | g.3083100C>T | CA408061725 | AVP | c.199G>A (p.Val67Met)
| dbSNP gnomAD v4 |
20 | g.3083101G>A | CA509554721 | AVP | c.198C>T (p.Phe66=)
| dbSNP gnomAD v4 |
20 | g.3083101G>C | CA408061726 | AVP | c.198C>G (p.Phe66Leu)
| |
20 | g.3083101G>T | CA408061727 | AVP | c.198C>A (p.Phe66Leu)
| gnomAD v4 |
20 | g.3083102A>C | CA408061730 | AVP | c.197T>G (p.Phe66Cys)
| |
20 | g.3083102A>G | CA408061728 | AVP | c.197T>C (p.Phe66Ser)
| |
20 | g.3083102A>T | CA408061729 | AVP | c.197T>A (p.Phe66Tyr)
| |
20 | g.3083103A>C | CA408061731 | AVP | c.196T>G (p.Phe66Val)
| |
20 | g.3083103A>G | CA408061732 | AVP | c.196T>C (p.Phe66Leu)
| gnomAD v4 |
20 | g.3083103A>T | CA408061733 | AVP | c.196T>A (p.Phe66Ile)
| |
20 | g.3083104G>A | CA509554722 | AVP | c.195C>T (p.Cys65=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083104G>C | CA408061734 | AVP | c.195C>G (p.Cys65Trp)
| |
20 | g.3083104G= | CA2346405579 | AVP | c.195C= (p.Cys65=)
| |
20 | g.3083104G>T | CA408061735 | AVP | c.195C>A (p.Cys65Ter)
| gnomAD v4 |
20 | g.3083105C>A | CA408061738 | AVP | c.194G>T (p.Cys65Phe)
| gnomAD v4 |
20 | g.3083105C>G | CA408061737 | AVP | c.194G>C (p.Cys65Ser)
| |
20 | g.3083105C>T | CA408061736 | AVP | c.194G>A (p.Cys65Tyr)
| gnomAD v4 |
20 | g.3083106A>C | CA408061739 | AVP | c.193T>G (p.Cys65Gly)
| |
20 | g.3083106A>G | CA408061741 | AVP | c.193T>C (p.Cys65Arg)
| gnomAD v4 |
20 | g.3083106A>T | CA408061740 | AVP | c.193T>A (p.Cys65Ser)
| |
20 | g.3083106_3083107delinsTT | CA2695229217 | AVP | c.192_193delinsAA (p.Cys65Ser)
| |
20 | g.3083107G>A | CA509554725 | AVP | c.192C>T (p.Gly64=)
| gnomAD v4 |
20 | g.3083107G>C | CA509554724 | AVP | c.192C>G (p.Gly64=)
| gnomAD v4 |
20 | g.3083107G>T | CA509554723 | AVP | c.192C>A (p.Gly64=)
| gnomAD v4 |
20 | g.3083108C>A | CA408061742 | AVP | c.191G>T (p.Gly64Val)
| gnomAD v4 |
20 | g.3083108C>G | CA408061743 | AVP | c.191G>C (p.Gly64Ala)
| |
20 | g.3083108C>T | CA408061744 | AVP | c.191G>A (p.Gly64Asp)
| gnomAD v4 |
20 | g.3083110del | CA2651674847 | AVP | c.191del (p.Gly64AlafsTer?)
| gnomAD v4 |
20 | g.3083109C>A | CA408061745 | AVP | c.190G>T (p.Gly64Cys)
| gnomAD v4 |
20 | g.3083109C= | CA2346405580 | AVP | c.190G= (p.Gly64=)
| |
20 | g.3083109C>G | CA408061746 | AVP | c.190G>C (p.Gly64Arg)
| |
20 | g.3083109C>T | CA408061747 | AVP | c.190G>A (p.Gly64Ser)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083110C>A | CA509554726 | AVP | c.189G>T (p.Leu63=)
| gnomAD v4 |
20 | g.3083110C>G | CA509554727 | AVP | c.189G>C (p.Leu63=)
| |
20 | g.3083110C>T | CA509554728 | AVP | c.189G>A (p.Leu63=)
| gnomAD v4 |
20 | g.3083111A>C | CA408061748 | AVP | c.188T>G (p.Leu63Arg)
| |
20 | g.3083111A>G | CA408061749 | AVP | c.188T>C (p.Leu63Pro)
| gnomAD v4 |
20 | g.3083111A>T | CA408061750 | AVP | c.188T>A (p.Leu63Gln)
| |
20 | g.3083112G>A | CA509554729 | AVP | c.187C>T (p.Leu63=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083112G>C | CA408061751 | AVP | c.187C>G (p.Leu63Val)
| gnomAD v4 |
20 | g.3083112G= | CA2346405581 | AVP | c.187C= (p.Leu63=)
| |
20 | g.3083112G>T | CA408061752 | AVP | c.187C>A (p.Leu63Met)
| gnomAD v4 |
20 | g.3083113C>A | CA408061754 | AVP | c.186G>T (p.Glu62Asp)
| gnomAD v4 |
20 | g.3083113C>G | CA408061753 | AVP | c.186G>C (p.Glu62Asp)
| |
20 | g.3083113C>T | CA509554730 | AVP | c.186G>A (p.Glu62=)
| gnomAD v4 |
20 | g.3083114T>A | CA408061755 | AVP | c.185A>T (p.Glu62Val)
| |
20 | g.3083114T>C | CA408061756 | AVP | c.185A>G (p.Glu62Gly)
| gnomAD v4 |
20 | g.3083114T>G | CA408061757 | AVP | c.185A>C (p.Glu62Ala)
| |
20 | g.3083115C>A | CA408061758 | AVP | c.184G>T (p.Glu62Ter)
| gnomAD v4 |
20 | g.3083115C= | CA2346405582 | AVP | c.184G= (p.Glu62=)
| |
20 | g.3083115C>G | CA408061759 | AVP | c.184G>C (p.Glu62Gln)
| |
20 | g.3083115C>T | CA310943294 | AVP | c.184G>A (p.Glu62Lys)
| dbSNP |
20 | g.3083116G>A | CA9739461 | AVP | c.183C>T (p.Asp61=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3083116G>C | CA408061760 | AVP | c.183C>G (p.Asp61Glu)
| gnomAD v4 |
20 | g.3083116G= | CA2346405583 | AVP | c.183C= (p.Asp61=)
| |
20 | g.3083116G>T | CA408061761 | AVP | c.183C>A (p.Asp61Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083117T>A | CA408061762 | AVP | c.182A>T (p.Asp61Val)
| |
20 | g.3083117T>C | CA408061763 | AVP | c.182A>G (p.Asp61Gly)
| gnomAD v4 |
20 | g.3083117T>G | CA408061764 | AVP | c.182A>C (p.Asp61Ala)
| |
20 | g.3083118C>A | CA408061766 | AVP | c.181G>T (p.Asp61Tyr)
| gnomAD v4 |
20 | g.3083118C>G | CA408061767 | AVP | c.181G>C (p.Asp61His)
| |
20 | g.3083118C>T | CA408061765 | AVP | c.181G>A (p.Asp61Asn)
| gnomAD v4 |
20 | g.3083119C>A | CA509554731 | AVP | c.180G>T (p.Ala60=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3083119C= | CA2346405584 | AVP | c.180G= (p.Ala60=)
| |
20 | g.3083119C>G | CA509554732 | AVP | c.180G>C (p.Ala60=)
| |
20 | g.3083119C>T | CA509554733 | AVP | c.180G>A (p.Ala60=)
| gnomAD v4 |
20 | g.3083122_3083123del | CA2651674848 | AVP | c.179_180del (p.Ala60GlyfsTer11)
| gnomAD v4 |
20 | g.3083120G>A | CA9739462 | AVP | c.179C>T (p.Ala60Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083120G>C | CA408061768 | AVP | c.179C>G (p.Ala60Gly)
| gnomAD v4 |
20 | g.3083120G= | CA2346405585 | AVP | c.179C= (p.Ala60=)
| |
20 | g.3083120G>T | CA408061769 | AVP | c.179C>A (p.Ala60Glu)
| gnomAD v4 |
20 | g.3083120_3083122del | CA2695229218 | AVP | c.177_179del (p.Cys59_Ala60delinsTrp)
| |
20 | g.3083121C>A | CA408061770 | AVP | c.178G>T (p.Ala60Ser)
| gnomAD v4 |
20 | g.3083121C>G | CA408061771 | AVP | c.178G>C (p.Ala60Pro)
| |
20 | g.3083121C>T | CA408061772 | AVP | c.178G>A (p.Ala60Thr)
| gnomAD v4 |
20 | g.3083122G>A | CA509554734 | AVP | c.177C>T (p.Cys59=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.3083122G>C | CA408061773 | AVP | c.177C>G (p.Cys59Trp)
| |
20 | g.3083122G= | CA2346405586 | AVP | c.177C= (p.Cys59=)
| |
20 | g.3083122G>T | CA408061774 | AVP | c.177C>A (p.Cys59Ter)
| gnomAD v4 |
20 | g.3083123C>A | CA408061775 | AVP | c.176G>T (p.Cys59Phe)
| gnomAD v4 |
20 | g.3083123C>G | CA408061776 | AVP | c.176G>C (p.Cys59Ser)
| |
20 | g.3083123C>T | CA408061777 | AVP | c.176G>A (p.Cys59Tyr)
| gnomAD v4 |
20 | g.3083124A>C | CA408061778 | AVP | c.175T>G (p.Cys59Gly)
| |
20 | g.3083124A>G | CA408061779 | AVP | c.175T>C (p.Cys59Arg)
| gnomAD v4 |
20 | g.3083124A>T | CA408061780 | AVP | c.175T>A (p.Cys59Ser)
| |
20 | g.3083125G>A | CA509554735 | AVP | c.174C>T (p.Cys58=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083125G>C | CA408061781 | AVP | c.174C>G (p.Cys58Trp)
| gnomAD v4 |
20 | g.3083125G= | CA2346405587 | AVP | c.174C= (p.Cys58=)
| |
20 | g.3083125G>T | CA408061782 | AVP | c.174C>A (p.Cys58Ter)
| gnomAD v4 |
20 | g.3083126C>A | CA408061783 | AVP | c.173G>T (p.Cys58Phe)
| gnomAD v4 |
20 | g.3083126C>G | CA408061784 | AVP | c.173G>C (p.Cys58Ser)
| |
20 | g.3083126C>T | CA408061785 | AVP | c.173G>A (p.Cys58Tyr)
| gnomAD v4 |
20 | g.3083127A>C | CA408061786 | AVP | c.172T>G (p.Cys58Gly)
| |
20 | g.3083127A>G | CA408061787 | AVP | c.172T>C (p.Cys58Arg)
| gnomAD v4 |
20 | g.3083127A>T | CA408061788 | AVP | c.172T>A (p.Cys58Ser)
| |
20 | g.3083128G>A | CA509554737 | AVP | c.171C>T (p.Ile57=)
| |
20 | g.3083128G>C | CA408061789 | AVP | c.171C>G (p.Ile57Met)
| |
20 | g.3083128G>T | CA509554736 | AVP | c.171C>A (p.Ile57=)
| |
20 | g.3083129A>C | CA408061790 | AVP | c.170T>G (p.Ile57Ser)
| |
20 | g.3083129A>G | CA408061791 | AVP | c.170T>C (p.Ile57Thr)
| gnomAD v4 |
20 | g.3083129A>T | CA408061792 | AVP | c.170T>A (p.Ile57Asn)
| |
20 | g.3083130T>A | CA408061793 | AVP | c.169A>T (p.Ile57Phe)
| |
20 | g.3083130T>C | CA408061794 | AVP | c.169A>G (p.Ile57Val)
| gnomAD v4 |
20 | g.3083130T>G | CA408061795 | AVP | c.169A>C (p.Ile57Leu)
| |
20 | g.3083131G>A | CA509554738 | AVP | c.168C>T (p.Ser56=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083131G>C | CA408061796 | AVP | c.168C>G (p.Ser56Arg)
| |
20 | g.3083131G= | CA2346405588 | AVP | c.168C= (p.Ser56=)
| |
20 | g.3083131G>T | CA408061797 | AVP | c.168C>A (p.Ser56Arg)
| gnomAD v4 |
20 | g.3083132C>A | CA408061798 | AVP | c.167G>T (p.Ser56Ile)
| gnomAD v4 |
20 | g.3083132C= | CA2346405589 | AVP | c.167G= (p.Ser56=)
| |
20 | g.3083132C>G | CA408061800 | AVP | c.167G>C (p.Ser56Thr)
| |
20 | g.3083132C>T | CA408061799 | AVP | c.167G>A (p.Ser56Asn)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083133T>A | CA408061801 | AVP | c.166A>T (p.Ser56Cys)
| |
20 | g.3083133T>C | CA408061802 | AVP | c.166A>G (p.Ser56Gly)
| dbSNP gnomAD v4 |
20 | g.3083133T>G | CA408061803 | AVP | c.166A>C (p.Ser56Arg)
| |
20 | g.3083133T= | CA2346405590 | AVP | c.166A= (p.Ser56=)
| |
20 | g.3083134G>A | CA310943310 | AVP | c.165C>T (p.Pro55=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3083134G>C | CA509554740 | AVP | c.165C>G (p.Pro55=)
| |
20 | g.3083134G= | CA2346405591 | AVP | c.165C= (p.Pro55=)
| |
20 | g.3083134G>T | CA509554739 | AVP | c.165C>A (p.Pro55=)
| gnomAD v4 |
20 | g.3083136del | CA2840430224 | AVP | c.165del (p.Ser56AlafsTer?)
| |
20 | g.3083135G>A | CA408061804 | AVP | c.164C>T (p.Pro55Leu)
| ClinVar gnomAD v4 |
20 | g.3083135G>C | CA408061805 | AVP | c.164C>G (p.Pro55Arg)
| |
20 | g.3083135G>T | CA408061806 | AVP | c.164C>A (p.Pro55His)
| gnomAD v4 |
20 | g.3083136G>A | CA408061807 | AVP | c.163C>T (p.Pro55Ser)
| gnomAD v4 |
20 | g.3083136G>C | CA9739463 | AVP | c.163C>G (p.Pro55Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083136G= | CA2346405592 | AVP | c.163C= (p.Pro55=)
| |
20 | g.3083136G>T | CA408061808 | AVP | c.163C>A (p.Pro55Thr)
| gnomAD v4 |
20 | g.3083137C>A | CA509554741 | AVP | c.162G>T (p.Gly54=)
| gnomAD v4 |
20 | g.3083137C>G | CA509554742 | AVP | c.162G>C (p.Gly54=)
| gnomAD v4 |
20 | g.3083137C>T | CA509554743 | AVP | c.162G>A (p.Gly54=)
| gnomAD v4 |
20 | g.3083138C>A | CA121961 | AVP | c.161G>T (p.Gly54Val)
| ClinVar dbSNP gnomAD v4 |
20 | g.3083138C= | CA2346405593 | AVP | c.161G= (p.Gly54=)
| |
20 | g.3083138C>G | CA408061809 | AVP | c.161G>C (p.Gly54Ala)
| gnomAD v4 |
20 | g.3083138C>T | CA408061810 | AVP | c.161G>A (p.Gly54Glu)
| gnomAD v4 |
20 | g.3083139C>A | CA408061812 | AVP | c.160G>T (p.Gly54Trp)
| gnomAD v4 |
20 | g.3083139C= | CA2346405594 | AVP | c.160G= (p.Gly54=)
| |
20 | g.3083139C>G | CA121963 | AVP | c.160G>C (p.Gly54Arg)
| ClinVar dbSNP |
20 | g.3083139C>T | CA408061811 | AVP | c.160G>A (p.Gly54Arg)
| gnomAD v4 |
20 | g.3083140G>A | CA9739464 | AVP | c.159C>T (p.Phe53=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083140G>C | CA408061813 | AVP | c.159C>G (p.Phe53Leu)
| |
20 | g.3083140G= | CA2346405595 | AVP | c.159C= (p.Phe53=)
| |
20 | g.3083140G>T | CA408061814 | AVP | c.159C>A (p.Phe53Leu)
| gnomAD v4 |
20 | g.3083141A>C | CA408061815 | AVP | c.158T>G (p.Phe53Cys)
| |
20 | g.3083141A>G | CA408061816 | AVP | c.158T>C (p.Phe53Ser)
| gnomAD v4 |
20 | g.3083141A>T | CA408061817 | AVP | c.158T>A (p.Phe53Tyr)
| |
20 | g.3083142A>C | CA408061818 | AVP | c.157T>G (p.Phe53Val)
| |
20 | g.3083142A>G | CA408061819 | AVP | c.157T>C (p.Phe53Leu)
| gnomAD v4 |
20 | g.3083142A>T | CA408061820 | AVP | c.157T>A (p.Phe53Ile)
| |
20 | g.3083143G>A | CA509554744 | AVP | c.156C>T (p.Cys52=)
| gnomAD v4 |
20 | g.3083143G>C | CA408061821 | AVP | c.156C>G (p.Cys52Trp)
| |
20 | g.3083143G>T | CA408061822 | AVP | c.156C>A (p.Cys52Ter)
| gnomAD v4 |
20 | g.3083144C>A | CA408061825 | AVP | c.155G>T (p.Cys52Phe)
| gnomAD v4 |
20 | g.3083144C>G | CA408061824 | AVP | c.155G>C (p.Cys52Ser)
| |
20 | g.3083144C>T | CA408061823 | AVP | c.155G>A (p.Cys52Tyr)
| gnomAD v4 |
20 | g.3083145A>C | CA408061828 | AVP | c.154T>G (p.Cys52Gly)
| |
20 | g.3083145A>G | CA408061826 | AVP | c.154T>C (p.Cys52Arg)
| gnomAD v4 |
20 | g.3083145A>T | CA408061827 | AVP | c.154T>A (p.Cys52Ser)
| |
20 | g.3083146G>A | CA509554745 | AVP | c.153C>T (p.Arg51=)
| gnomAD v4 |
20 | g.3083146G>C | CA509554746 | AVP | c.153C>G (p.Arg51=)
| |
20 | g.3083146G>T | CA509554747 | AVP | c.153C>A (p.Arg51=)
| gnomAD v4 |
20 | g.3083147C>A | CA408061829 | AVP | c.152G>T (p.Arg51Leu)
| gnomAD v4 |
20 | g.3083147C>G | CA408061830 | AVP | c.152G>C (p.Arg51Pro)
| |
20 | g.3083147C>T | CA408061831 | AVP | c.152G>A (p.Arg51His)
| gnomAD v4 |
20 | g.3083148G>A | CA408061832 | AVP | c.151C>T (p.Arg51Cys)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3083148G>C | CA408061833 | AVP | c.151C>G (p.Arg51Gly)
| |
20 | g.3083148G= | CA2346405596 | AVP | c.151C= (p.Arg51=)
| |
20 | g.3083148G>T | CA408061834 | AVP | c.151C>A (p.Arg51Ser)
| gnomAD v4 |
20 | g.3083149G>A | CA509554748 | AVP | c.150C>T (p.Gly50=)
| gnomAD v4 |
20 | g.3083149G>C | CA509554749 | AVP | c.150C>G (p.Gly50=)
| |
20 | g.3083149G= | CA2346405597 | AVP | c.150C= (p.Gly50=)
| |
20 | g.3083149G>T | CA9739465 | AVP | c.150C>A (p.Gly50=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083150C>A | CA408061835 | AVP | c.149G>T (p.Gly50Val)
| gnomAD v4 |
20 | g.3083150C>G | CA408061836 | AVP | c.149G>C (p.Gly50Ala)
| |
20 | g.3083150C>T | CA408061837 | AVP | c.149G>A (p.Gly50Asp)
| gnomAD v4 |
20 | g.3083151C>A | CA408061839 | AVP | c.148G>T (p.Gly50Cys)
| gnomAD v4 |
20 | g.3083151C>G | CA408061840 | AVP | c.148G>C (p.Gly50Arg)
| |
20 | g.3083151C>T | CA408061838 | AVP | c.148G>A (p.Gly50Ser)
| |
20 | g.3083152T>A | CA408061841 | AVP | c.147A>T (p.Lys49Asn)
| gnomAD v4 |
20 | g.3083152T>C | CA509554750 | AVP | c.147A>G (p.Lys49=)
| gnomAD v4 |
20 | g.3083152T>G | CA408061842 | AVP | c.147A>C (p.Lys49Asn)
| gnomAD v4 |
20 | g.3083154del | CA2651674849 | AVP | c.147del (p.Gly50AlafsTer?)
| gnomAD v4 |
20 | g.3083153T>A | CA408061843 | AVP | c.146A>T (p.Lys49Ile)
| gnomAD v4 |
20 | g.3083153T>C | CA408061844 | AVP | c.146A>G (p.Lys49Arg)
| gnomAD v4 |
20 | g.3083153T>G | CA408061845 | AVP | c.146A>C (p.Lys49Thr)
| |
20 | g.3083154T>A | CA408061848 | AVP | c.145A>T (p.Lys49Ter)
| |
20 | g.3083154T>C | CA408061846 | AVP | c.145A>G (p.Lys49Glu)
| gnomAD v4 |
20 | g.3083154T>G | CA408061847 | AVP | c.145A>C (p.Lys49Gln)
| |
20 | g.3083154_3083155delinsTG | CA2346405598 | AVP | c.144_145delinsCA (p.Gly48=)
| |
20 | g.3083155del | CA2346405599 | AVP | c.144del (p.Gly50AlafsTer?)
| dbSNP |
20 | g.3083155G>A | CA509554752 | AVP | c.144C>T (p.Gly48=)
| gnomAD v4 |
20 | g.3083155G>C | CA509554753 | AVP | c.144C>G (p.Gly48=)
| |
20 | g.3083155G>T | CA509554751 | AVP | c.144C>A (p.Gly48=)
| gnomAD v4 |
20 | g.3083155_3083156delinsGC | CA2346405600 | AVP | c.143_144delinsGC (p.Gly48=)
| |
20 | g.3083156C>A | CA121948 | AVP | c.143G>T (p.Gly48Val)
| ClinVar dbSNP gnomAD v4 |
20 | g.3083156C= | CA2346405601 | AVP | c.143G= (p.Gly48=)
| |
20 | g.3083156C>G | CA408061849 | AVP | c.143G>C (p.Gly48Ala)
| dbSNP |
20 | g.3083156C>T | CA408061850 | AVP | c.143G>A (p.Gly48Asp)
| gnomAD v4 |
20 | g.3083160dup | CA2651674850 | AVP | c.143dup (p.Lys49GlnfsTer23)
| gnomAD v4 |
20 | g.3083160del | CA634328927 | AVP | c.143del (p.Gly48AlafsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083157C>A | CA408061851 | AVP | c.142G>T (p.Gly48Cys)
| gnomAD v4 |
20 | g.3083157C>G | CA408061852 | AVP | c.142G>C (p.Gly48Arg)
| gnomAD v4 |
20 | g.3083157C>T | CA408061853 | AVP | c.142G>A (p.Gly48Ser)
| gnomAD v4 |
20 | g.3083158C>A | CA509554756 | AVP | c.141G>T (p.Gly47=)
| gnomAD v4 |
20 | g.3083158C= | CA2346405602 | AVP | c.141G= (p.Gly47=)
| |
20 | g.3083158C>G | CA509554755 | AVP | c.141G>C (p.Gly47=)
| |
20 | g.3083158C>T | CA509554754 | AVP | c.141G>A (p.Gly47=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083159C>A | CA408061855 | AVP | c.140G>T (p.Gly47Val)
| gnomAD v4 |
20 | g.3083159C= | CA2346405603 | AVP | c.140G= (p.Gly47=)
| |
20 | g.3083159C>G | CA408061856 | AVP | c.140G>C (p.Gly47Ala)
| |
20 | g.3083159C>T | CA408061854 | AVP | c.140G>A (p.Gly47Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083160C>A | CA9739466 | AVP | c.139G>T (p.Gly47Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3083160C= | CA2346405604 | AVP | c.139G= (p.Gly47=)
| |
20 | g.3083160C>G | CA408061857 | AVP | c.139G>C (p.Gly47Arg)
| gnomAD v4 |
20 | g.3083160C>T | CA310943359 | AVP | c.139G>A (p.Gly47Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083160_3083161insT | CA2651674851 | AVP | c.138_139insA (p.Gly47ArgfsTer25)
| gnomAD v4 |
20 | g.3083161G>A | CA509554757 | AVP | c.138C>T (p.Pro46=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083161G>C | CA509554759 | AVP | c.138C>G (p.Pro46=)
| gnomAD v4 |
20 | g.3083161G= | CA2346405605 | AVP | c.138C= (p.Pro46=)
| |
20 | g.3083161G>T | CA509554758 | AVP | c.138C>A (p.Pro46=)
| gnomAD v4 |
20 | g.3083164dup | CA2815070604 | AVP | c.138dup (p.Gly47ArgfsTer25)
| |
20 | g.3083164del | CA2651674852 | AVP | c.138del (p.Gly48AlafsTer?)
| gnomAD v4 |
20 | g.3083162G>A | CA9739467 | AVP | c.137C>T (p.Pro46Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083162G>C | CA408061858 | AVP | c.137C>G (p.Pro46Arg)
| |
20 | g.3083162G= | CA2346405606 | AVP | c.137C= (p.Pro46=)
| |
20 | g.3083162G>T | CA408061859 | AVP | c.137C>A (p.Pro46His)
| gnomAD v4 |
20 | g.3083163G>A | CA408061860 | AVP | c.136C>T (p.Pro46Ser)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083163G>C | CA408061861 | AVP | c.136C>G (p.Pro46Ala)
| |
20 | g.3083163G= | CA2346405607 | AVP | c.136C= (p.Pro46=)
| |
20 | g.3083163G>T | CA408061862 | AVP | c.136C>A (p.Pro46Thr)
| gnomAD v4 |
20 | g.3083164G>A | CA509554760 | AVP | c.135C>T (p.Gly45=)
| gnomAD v4 |
20 | g.3083164G>C | CA509554761 | AVP | c.135C>G (p.Gly45=)
| gnomAD v4 |
20 | g.3083164G>T | CA509554762 | AVP | c.135C>A (p.Gly45=)
| gnomAD v4 |
20 | g.3083165C>A | CA408061863 | AVP | c.134G>T (p.Gly45Val)
| gnomAD v4 |
20 | g.3083165C= | CA2346405608 | AVP | c.134G= (p.Gly45=)
| |
20 | g.3083165C>G | CA408061864 | AVP | c.134G>C (p.Gly45Ala)
| |
20 | g.3083165C>T | CA408061865 | AVP | c.134G>A (p.Gly45Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083166C>A | CA408061866 | AVP | c.133G>T (p.Gly45Cys)
| gnomAD v4 |
20 | g.3083166C>G | CA408061867 | AVP | c.133G>C (p.Gly45Arg)
| |
20 | g.3083166C>T | CA408061868 | AVP | c.133G>A (p.Gly45Ser)
| gnomAD v4 |
20 | g.3083167del | CA2651674853 | AVP | c.132del (p.Cys44TrpfsTer?)
| gnomAD v4 |
20 | g.3083167G>A | CA9739468 | AVP | c.132C>T (p.Cys44=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083167G>C | CA408061870 | AVP | c.132C>G (p.Cys44Trp)
| |
20 | g.3083167G= | CA2346405609 | AVP | c.132C= (p.Cys44=)
| |
20 | g.3083167G>T | CA408061869 | AVP | c.132C>A (p.Cys44Ter)
| gnomAD v4 |
20 | g.3083168C>A | CA10654930 | AVP | c.131G>T (p.Cys44Phe)
| ClinVar dbSNP gnomAD v4 |
20 | g.3083168C= | CA2346405610 | AVP | c.131G= (p.Cys44=)
| |
20 | g.3083168C>G | CA408061871 | AVP | c.131G>C (p.Cys44Ser)
| |
20 | g.3083168C>T | CA408061872 | AVP | c.131G>A (p.Cys44Tyr)
| gnomAD v4 |
20 | g.3083169A= | CA2346405612 | AVP | c.130T= (p.Cys44=)
| |
20 | g.3083169A>C | CA408061873 | AVP | c.130T>G (p.Cys44Gly)
| dbSNP |
20 | g.3083169A>G | CA408061874 | AVP | c.130T>C (p.Cys44Arg)
| gnomAD v4 |
20 | g.3083169A>T | CA408061875 | AVP | c.130T>A (p.Cys44Ser)
| gnomAD v4 |
20 | g.3083169_3083170delinsAG | CA2346405611 | AVP | c.129_130delinsCT (p.Pro43=)
| |
20 | g.3083170G>A | CA509554763 | AVP | c.129C>T (p.Pro43=)
| gnomAD v4 |
20 | g.3083170G>C | CA509554764 | AVP | c.129C>G (p.Pro43=)
| |
20 | g.3083170G>T | CA509554765 | AVP | c.129C>A (p.Pro43=)
| gnomAD v4 |
20 | g.3083173dup | CA2651674854 | AVP | c.129dup (p.Cys44LeufsTer28)
| gnomAD v4 |
20 | g.3083173del | CA1014830920 | AVP | c.129del (p.Cys44AlafsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3083171G>A | CA408061876 | AVP | c.128C>T (p.Pro43Leu)
| dbSNP gnomAD v4 |
20 | g.3083171G>C | CA408061877 | AVP | c.128C>G (p.Pro43Arg)
| |
20 | g.3083171G= | CA2346405613 | AVP | c.128C= (p.Pro43=)
| |
20 | g.3083171G>T | CA408061878 | AVP | c.128C>A (p.Pro43His)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083172G>A | CA408061879 | AVP | c.127C>T (p.Pro43Ser)
| gnomAD v4 |
20 | g.3083172G>C | CA9739469 | AVP | c.127C>G (p.Pro43Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083172G= | CA2346405614 | AVP | c.127C= (p.Pro43=)
| |
20 | g.3083172G>T | CA9739470 | AVP | c.127C>A (p.Pro43Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3083173G>A | CA509554766 | AVP | c.126C>T (p.Leu42=)
| gnomAD v4 |
20 | g.3083173G>C | CA509554767 | AVP | c.126C>G (p.Leu42=)
| |
20 | g.3083173G>T | CA509554768 | AVP | c.126C>A (p.Leu42=)
| gnomAD v4 |
20 | g.3083174_3083175del | CA2840430225 | AVP | c.125_126del (p.Leu42ProfsTer29)
| |
20 | g.3083174A>C | CA408061880 | AVP | c.125T>G (p.Leu42Arg)
| |
20 | g.3083174A>G | CA408061881 | AVP | c.125T>C (p.Leu42Pro)
| gnomAD v4 |
20 | g.3083174A>T | CA408061882 | AVP | c.125T>A (p.Leu42His)
| gnomAD v4 |
20 | g.3083175G>A | CA408061883 | AVP | c.124C>T (p.Leu42Phe)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3083175G>C | CA408061884 | AVP | c.124C>G (p.Leu42Val)
| |
20 | g.3083175G= | CA2346405615 | AVP | c.124C= (p.Leu42=)
| |
20 | g.3083175G>T | CA408061885 | AVP | c.124C>A (p.Leu42Ile)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083176G>A | CA509554769 | AVP | c.123C>T (p.Cys41=)
| gnomAD v4 COSMIC |
20 | g.3083176G>C | CA408061887 | AVP | c.123C>G (p.Cys41Trp)
| |
20 | g.3083176G>T | CA408061886 | AVP | c.123C>A (p.Cys41Ter)
| gnomAD v4 |
20 | g.3083177C>A | CA408061888 | AVP | c.122G>T (p.Cys41Phe)
| gnomAD v4 |
20 | g.3083177C>G | CA408061889 | AVP | c.122G>C (p.Cys41Ser)
| |
20 | g.3083177C>T | CA408061890 | AVP | c.122G>A (p.Cys41Tyr)
| gnomAD v4 |
20 | g.3083178A>C | CA408061891 | AVP | c.121T>G (p.Cys41Gly)
| |
20 | g.3083178A>G | CA408061892 | AVP | c.121T>C (p.Cys41Arg)
| gnomAD v4 |
20 | g.3083178A>T | CA408061893 | AVP | c.121T>A (p.Cys41Ser)
| |
20 | g.3083179C>A | CA408061894 | AVP | c.121-1G>T (n.121-1G>T)
| gnomAD v4 |
20 | g.3083179C>G | CA408061896 | AVP | c.121-1G>C (n.121-1G>C)
| |
20 | g.3083179C>T | CA408061895 | AVP | c.121-1G>A (n.121-1G>A)
| gnomAD v4 |