| 3 | g.172448270_172448283del | CA645535948 | GHSR | c.131_144del (p.Ala44AspfsTer?)
| COSMIC COSMIC |
| 3 | g.172448272C>A | CA355516471 | GHSR | c.142G>T (p.Ala48Ser)
| |
| 3 | g.172448272C>G | CA355516473 | GHSR | c.142G>C (p.Ala48Pro)
| |
| 3 | g.172448272C>T | CA355516474 | GHSR | c.142G>A (p.Ala48Thr)
| |
| 3 | g.172448273T>A | CA436965613 | GHSR | c.141A>T (p.Thr47=)
| |
| 3 | g.172448273T>C | CA436965615 | GHSR | c.141A>G (p.Thr47=)
| |
| 3 | g.172448273T>G | CA436965617 | GHSR | c.141A>C (p.Thr47=)
| |
| 3 | g.172448273_172448274insAGGGTGACTTCATATGAGATTGTTTGGGCTACTGCTCGCAT | CA2668560153 | GHSR | c.141_142insTGCGAGCAGTAGCCCAAACAATCTCATATGAAGTCACCCTA (p.Ala48CysfsTer4)
| gnomAD v4 |
| 3 | g.172448274G>A | CA355516480 | GHSR | c.140C>T (p.Thr47Ile)
| |
| 3 | g.172448274G>C | CA355516478 | GHSR | c.140C>G (p.Thr47Arg)
| |
| 3 | g.172448274G>T | CA355516476 | GHSR | c.140C>A (p.Thr47Lys)
| gnomAD v4 |
| 3 | g.172448274_172448279del | CA2541600003 | GHSR | c.135_140del (p.Val46_Thr47del)
| |
| 3 | g.172448275T>A | CA355516483 | GHSR | c.139A>T (p.Thr47Ser)
| |
| 3 | g.172448275T>C | CA355516485 | GHSR | c.139A>G (p.Thr47Ala)
| |
| 3 | g.172448275T>G | CA355516487 | GHSR | c.139A>C (p.Thr47Pro)
| |
| 3 | g.172448276G>A | CA436965619 | GHSR | c.138C>T (p.Val46=)
| dbSNP |
| 3 | g.172448276G>C | CA436965621 | GHSR | c.138C>G (p.Val46=)
| |
| 3 | g.172448276G= | CA1420511860 | GHSR | c.138C= (p.Val46=)
| |
| 3 | g.172448276G>T | CA436965623 | GHSR | c.138C>A (p.Val46=)
| |
| 3 | g.172448277A= | CA1420511861 | GHSR | c.137T= (p.Val46=)
| |
| 3 | g.172448277A>C | CA355516489 | GHSR | c.137T>G (p.Val46Gly)
| |
| 3 | g.172448277A>G | CA355516492 | GHSR | c.137T>C (p.Val46Ala)
| gnomAD v4 |
| 3 | g.172448277A>T | CA2706525 | GHSR | c.137T>A (p.Val46Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448278C>A | CA355516495 | GHSR | c.136G>T (p.Val46Phe)
| dbSNP gnomAD v4 |
| 3 | g.172448278C= | CA1420511862 | GHSR | c.136G= (p.Val46=)
| |
| 3 | g.172448278C>G | CA2706526 | GHSR | c.136G>C (p.Val46Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448278C>T | CA355516497 | GHSR | c.136G>A (p.Val46Ile)
| |
| 3 | g.172448279G>A | CA436965627 | GHSR | c.135C>T (p.Gly45=)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448279G>C | CA87786254 | GHSR | c.135C>G (p.Gly45=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448279G= | CA1420511863 | GHSR | c.135C= (p.Gly45=)
| |
| 3 | g.172448279G>T | CA436965629 | GHSR | c.135C>A (p.Gly45=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448280C>A | CA355516499 | GHSR | c.134G>T (p.Gly45Val)
| |
| 3 | g.172448280C= | CA1420511864 | GHSR | c.134G= (p.Gly45=)
| |
| 3 | g.172448280C>G | CA355516501 | GHSR | c.134G>C (p.Gly45Ala)
| |
| 3 | g.172448280C>T | CA355516502 | GHSR | c.134G>A (p.Gly45Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448281C>A | CA355516504 | GHSR | c.133G>T (p.Gly45Cys)
| |
| 3 | g.172448281C>G | CA355516505 | GHSR | c.133G>C (p.Gly45Arg)
| |
| 3 | g.172448281C>T | CA355516506 | GHSR | c.133G>A (p.Gly45Ser)
| |
| 3 | g.172448282C>A | CA436965630 | GHSR | c.132G>T (p.Ala44=)
| |
| 3 | g.172448282C= | CA1420511865 | GHSR | c.132G= (p.Ala44=)
| |
| 3 | g.172448282C>G | CA436965631 | GHSR | c.132G>C (p.Ala44=)
| |
| 3 | g.172448282C>T | CA436965632 | GHSR | c.132G>A (p.Ala44=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448283G>A | CA2706528 | GHSR | c.131C>T (p.Ala44Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448283G>C | CA2706527 | GHSR | c.131C>G (p.Ala44Gly)
| dbSNP ExAC gnomAD v2 |
| 3 | g.172448283G= | CA1420511866 | GHSR | c.131C= (p.Ala44=)
| |
| 3 | g.172448283G>T | CA87786267 | GHSR | c.131C>A (p.Ala44Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448284C>A | CA355516508 | GHSR | c.130G>T (p.Ala44Ser)
| |
| 3 | g.172448284C= | CA1420511867 | GHSR | c.130G= (p.Ala44=)
| |
| 3 | g.172448284C>G | CA355516510 | GHSR | c.130G>C (p.Ala44Pro)
| |
| 3 | g.172448284C>T | CA355516511 | GHSR | c.130G>A (p.Ala44Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448285C>A | CA436965636 | GHSR | c.129G>T (p.Leu43=)
| |
| 3 | g.172448285C>G | CA436965639 | GHSR | c.129G>C (p.Leu43=)
| |
| 3 | g.172448285C>T | CA436965638 | GHSR | c.129G>A (p.Leu43=)
| ClinVar |
| 3 | g.172448286A>C | CA355516515 | GHSR | c.128T>G (p.Leu43Arg)
| |
| 3 | g.172448286A>G | CA355516517 | GHSR | c.128T>C (p.Leu43Pro)
| |
| 3 | g.172448286A>T | CA355516514 | GHSR | c.128T>A (p.Leu43Gln)
| |
| 3 | g.172448287G>A | CA436965640 | GHSR | c.127C>T (p.Leu43=)
| |
| 3 | g.172448287G>C | CA355516521 | GHSR | c.127C>G (p.Leu43Val)
| |
| 3 | g.172448287G>T | CA355516520 | GHSR | c.127C>A (p.Leu43Met)
| |
| 3 | g.172448288C>A | CA436965644 | GHSR | c.126G>T (p.Leu42=)
| ClinVar |
| 3 | g.172448288C>G | CA436965645 | GHSR | c.126G>C (p.Leu42=)
| |
| 3 | g.172448288C>T | CA436965646 | GHSR | c.126G>A (p.Leu42=)
| |
| 3 | g.172448289A>C | CA355516526 | GHSR | c.125T>G (p.Leu42Arg)
| gnomAD v4 |
| 3 | g.172448289A>G | CA355516524 | GHSR | c.125T>C (p.Leu42Pro)
| |
| 3 | g.172448289A>T | CA355516527 | GHSR | c.125T>A (p.Leu42Gln)
| |
| 3 | g.172448290G>A | CA436965649 | GHSR | c.124C>T (p.Leu42=)
| gnomAD v4 |
| 3 | g.172448290G>C | CA2706529 | GHSR | c.124C>G (p.Leu42Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448290G= | CA1420511868 | GHSR | c.124C= (p.Leu42=)
| |
| 3 | g.172448290G>T | CA355516531 | GHSR | c.124C>A (p.Leu42Met)
| |
| 3 | g.172448291C>A | CA436965650 | GHSR | c.123G>T (p.Pro41=)
| gnomAD v4 |
| 3 | g.172448291C= | CA1420511869 | GHSR | c.123G= (p.Pro41=)
| |
| 3 | g.172448291C>G | CA436965651 | GHSR | c.123G>C (p.Pro41=)
| dbSNP |
| 3 | g.172448291C>T | CA2706530 | GHSR | c.123G>A (p.Pro41=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448292G>A | CA355516536 | GHSR | c.122C>T (p.Pro41Leu)
| gnomAD v4 COSMIC COSMIC |
| 3 | g.172448292G>C | CA355516538 | GHSR | c.122C>G (p.Pro41Arg)
| |
| 3 | g.172448292G>T | CA355516540 | GHSR | c.122C>A (p.Pro41Gln)
| |
| 3 | g.172448293G>A | CA355516542 | GHSR | c.121C>T (p.Pro41Ser)
| |
| 3 | g.172448293G>C | CA355516544 | GHSR | c.121C>G (p.Pro41Ala)
| |
| 3 | g.172448293G>T | CA355516546 | GHSR | c.121C>A (p.Pro41Thr)
| |
| 3 | g.172448294C>A | CA436965652 | GHSR | c.120G>T (p.Ala40=)
| |
| 3 | g.172448294C>G | CA436965653 | GHSR | c.120G>C (p.Ala40=)
| |
| 3 | g.172448294C>T | CA436965654 | GHSR | c.120G>A (p.Ala40=)
| |
| 3 | g.172448295G>A | CA355516549 | GHSR | c.119C>T (p.Ala40Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448295G>C | CA355516551 | GHSR | c.119C>G (p.Ala40Gly)
| |
| 3 | g.172448295G= | CA1420511870 | GHSR | c.119C= (p.Ala40=)
| |
| 3 | g.172448295G>T | CA355516553 | GHSR | c.119C>A (p.Ala40Glu)
| gnomAD v4 |
| 3 | g.172448296C>A | CA355516559 | GHSR | c.118G>T (p.Ala40Ser)
| gnomAD v4 |
| 3 | g.172448296C>G | CA355516557 | GHSR | c.118G>C (p.Ala40Pro)
| |
| 3 | g.172448296C>T | CA355516555 | GHSR | c.118G>A (p.Ala40Thr)
| gnomAD v4 COSMIC COSMIC |
| 3 | g.172448296_172448297delinsCG | CA1420511871 | GHSR | c.117_118delinsCG (p.Pro39=)
| |
| 3 | g.172448297G>A | CA2706531 | GHSR | c.117C>T (p.Pro39=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448297G>C | CA436965656 | GHSR | c.117C>G (p.Pro39=)
| |
| 3 | g.172448297G= | CA1420511872 | GHSR | c.117C= (p.Pro39=)
| |
| 3 | g.172448297G>T | CA436965657 | GHSR | c.117C>A (p.Pro39=)
| |
| 3 | g.172448300del | CA548333839 | GHSR | c.117del (p.Ala40ArgfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448298G>A | CA355516563 | GHSR | c.116C>T (p.Pro39Leu)
| gnomAD v4 |
| 3 | g.172448298G>C | CA355516564 | GHSR | c.116C>G (p.Pro39Arg)
| |
| 3 | g.172448298G= | CA1420511873 | GHSR | c.116C= (p.Pro39=)
| |
| 3 | g.172448298G>T | CA2706532 | GHSR | c.116C>A (p.Pro39His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448299G>A | CA355516567 | GHSR | c.115C>T (p.Pro39Ser)
| |
| 3 | g.172448299G>C | CA355516568 | GHSR | c.115C>G (p.Pro39Ala)
| |
| 3 | g.172448299G>T | CA355516570 | GHSR | c.115C>A (p.Pro39Thr)
| |
| 3 | g.172448300G>A | CA436965661 | GHSR | c.114C>T (p.Phe38=)
| gnomAD v4 |
| 3 | g.172448300G>C | CA355516572 | GHSR | c.114C>G (p.Phe38Leu)
| |
| 3 | g.172448300G>T | CA355516574 | GHSR | c.114C>A (p.Phe38Leu)
| |
| 3 | g.172448301A= | CA1420511874 | GHSR | c.113T= (p.Phe38=)
| |
| 3 | g.172448301A>C | CA355516575 | GHSR | c.113T>G (p.Phe38Cys)
| |
| 3 | g.172448301A>G | CA355516576 | GHSR | c.113T>C (p.Phe38Ser)
| |
| 3 | g.172448301A>T | CA355516577 | GHSR | c.113T>A (p.Phe38Tyr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448302A>C | CA355516584 | GHSR | c.112T>G (p.Phe38Val)
| |
| 3 | g.172448302A>G | CA355516582 | GHSR | c.112T>C (p.Phe38Leu)
| |
| 3 | g.172448302A>T | CA355516580 | GHSR | c.112T>A (p.Phe38Ile)
| |
| 3 | g.172448303G>A | CA436965663 | GHSR | c.111C>T (p.Leu37=)
| |
| 3 | g.172448303G>C | CA436965664 | GHSR | c.111C>G (p.Leu37=)
| |
| 3 | g.172448303G>T | CA436965665 | GHSR | c.111C>A (p.Leu37=)
| gnomAD v4 |
| 3 | g.172448304A>C | CA355516586 | GHSR | c.110T>G (p.Leu37Arg)
| |
| 3 | g.172448304A>G | CA355516588 | GHSR | c.110T>C (p.Leu37Pro)
| |
| 3 | g.172448304A>T | CA355516590 | GHSR | c.110T>A (p.Leu37His)
| |
| 3 | g.172448304_172448307delinsAGCT | CA1420511875 | GHSR | c.107_110delinsAGCT (p.Gln36=)
| |
| 3 | g.172448305G>A | CA355516644 | GHSR | c.109C>T (p.Leu37Phe)
| |
| 3 | g.172448305G>C | CA355516647 | GHSR | c.109C>G (p.Leu37Val)
| |
| 3 | g.172448305G>T | CA355516649 | GHSR | c.109C>A (p.Leu37Ile)
| |
| 3 | g.172448307_172448309del | CA2706533 | GHSR | c.107_109del (p.Gln36del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448306C>A | CA355516653 | GHSR | c.108G>T (p.Gln36His)
| |
| 3 | g.172448306C= | CA1420511876 | GHSR | c.108G= (p.Gln36=)
| |
| 3 | g.172448306C>G | CA87786296 | GHSR | c.108G>C (p.Gln36His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448306C>T | CA436965668 | GHSR | c.108G>A (p.Gln36=)
| COSMIC COSMIC |
| 3 | g.172448307T>A | CA355516656 | GHSR | c.107A>T (p.Gln36Leu)
| |
| 3 | g.172448307T>C | CA355516658 | GHSR | c.107A>G (p.Gln36Arg)
| gnomAD v4 |
| 3 | g.172448307T>G | CA355516660 | GHSR | c.107A>C (p.Gln36Pro)
| |
| 3 | g.172448308G>A | CA355516666 | GHSR | c.106C>T (p.Gln36Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448308G>C | CA355516664 | GHSR | c.106C>G (p.Gln36Glu)
| gnomAD v4 |
| 3 | g.172448308G= | CA1420511877 | GHSR | c.106C= (p.Gln36=)
| |
| 3 | g.172448308G>T | CA355516662 | GHSR | c.106C>A (p.Gln36Lys)
| |
| 3 | g.172448309C>A | CA436965670 | GHSR | c.105G>T (p.Leu35=)
| gnomAD v4 |
| 3 | g.172448309C>G | CA436965671 | GHSR | c.105G>C (p.Leu35=)
| |
| 3 | g.172448309C>T | CA436965672 | GHSR | c.105G>A (p.Leu35=)
| ClinVar gnomAD v4 |
| 3 | g.172448310A= | CA1420511878 | GHSR | c.104T= (p.Leu35=)
| |
| 3 | g.172448310A>C | CA2706534 | GHSR | c.104T>G (p.Leu35Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448310A>G | CA355516669 | GHSR | c.104T>C (p.Leu35Pro)
| |
| 3 | g.172448310A>T | CA355516670 | GHSR | c.104T>A (p.Leu35Gln)
| |
| 3 | g.172448311G>A | CA436965674 | GHSR | c.103C>T (p.Leu35=)
| |
| 3 | g.172448311G>C | CA355516685 | GHSR | c.103C>G (p.Leu35Val)
| |
| 3 | g.172448311G>T | CA355516687 | GHSR | c.103C>A (p.Leu35Met)
| gnomAD v4 |
| 3 | g.172448312C>A | CA436965677 | GHSR | c.102G>T (p.Leu34=)
| |
| 3 | g.172448312C= | CA1420511879 | GHSR | c.102G= (p.Leu34=)
| |
| 3 | g.172448312C>G | CA436965678 | GHSR | c.102G>C (p.Leu34=)
| |
| 3 | g.172448312C>T | CA2706535 | GHSR | c.102G>A (p.Leu34=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448313A= | CA1420511880 | GHSR | c.101T= (p.Leu34=)
| |
| 3 | g.172448313A>C | CA355516689 | GHSR | c.101T>G (p.Leu34Arg)
| |
| 3 | g.172448313A>G | CA2706536 | GHSR | c.101T>C (p.Leu34Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448313A>T | CA355516690 | GHSR | c.101T>A (p.Leu34Gln)
| |
| 3 | g.172448314G>A | CA436965679 | GHSR | c.100C>T (p.Leu34=)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448314G>C | CA355516692 | GHSR | c.100C>G (p.Leu34Val)
| |
| 3 | g.172448314G= | CA1420511881 | GHSR | c.100C= (p.Leu34=)
| |
| 3 | g.172448314G>T | CA355516693 | GHSR | c.100C>A (p.Leu34Met)
| gnomAD v4 |
| 3 | g.172448315C>A | CA355516694 | GHSR | c.99G>T (p.Glu33Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448315C= | CA1420511882 | GHSR | c.99G= (p.Glu33=)
| |
| 3 | g.172448315C>G | CA355516695 | GHSR | c.99G>C (p.Glu33Asp)
| |
| 3 | g.172448315C>T | CA436965680 | GHSR | c.99G>A (p.Glu33=)
| dbSNP gnomAD v4 |
| 3 | g.172448316T>A | CA355516698 | GHSR | c.98A>T (p.Glu33Val)
| |
| 3 | g.172448316T>C | CA355516697 | GHSR | c.98A>G (p.Glu33Gly)
| |
| 3 | g.172448316T>G | CA355516696 | GHSR | c.98A>C (p.Glu33Ala)
| |
| 3 | g.172448317C>A | CA355516700 | GHSR | c.97G>T (p.Glu33Ter)
| |
| 3 | g.172448317C= | CA1420511883 | GHSR | c.97G= (p.Glu33=)
| |
| 3 | g.172448317C>G | CA355516699 | GHSR | c.97G>C (p.Glu33Gln)
| |
| 3 | g.172448317C>T | CA2706537 | GHSR | c.97G>A (p.Glu33Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448318G>A | CA2706538 | GHSR | c.96C>T (p.Asp32=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448318G>C | CA355516701 | GHSR | c.96C>G (p.Asp32Glu)
| ClinVar dbSNP |
| 3 | g.172448318G= | CA1420511884 | GHSR | c.96C= (p.Asp32=)
| |
| 3 | g.172448318G>T | CA355516702 | GHSR | c.96C>A (p.Asp32Glu)
| |
| 3 | g.172448319T>A | CA355516703 | GHSR | c.95A>T (p.Asp32Val)
| |
| 3 | g.172448319T>C | CA355516704 | GHSR | c.95A>G (p.Asp32Gly)
| |
| 3 | g.172448319T>G | CA355516705 | GHSR | c.95A>C (p.Asp32Ala)
| |
| 3 | g.172448320C>A | CA355516706 | GHSR | c.94G>T (p.Asp32Tyr)
| ClinVar dbSNP |
| 3 | g.172448320C= | CA1420511885 | GHSR | c.94G= (p.Asp32=)
| |
| 3 | g.172448320C>G | CA355516707 | GHSR | c.94G>C (p.Asp32His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448320C>T | CA355516708 | GHSR | c.94G>A (p.Asp32Asn)
| COSMIC COSMIC |
| 3 | g.172448321del | CA2577960386 | GHSR | c.93del (p.Asp32ThrfsTer?)
| |
| 3 | g.172448321G>A | CA436965684 | GHSR | c.93C>T (p.Gly31=)
| gnomAD v4 |
| 3 | g.172448321G>C | CA436965685 | GHSR | c.93C>G (p.Gly31=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448321G= | CA1420511886 | GHSR | c.93C= (p.Gly31=)
| |
| 3 | g.172448321G>T | CA436965686 | GHSR | c.93C>A (p.Gly31=)
| |
| 3 | g.172448322C>A | CA355516709 | GHSR | c.92G>T (p.Gly31Val)
| |
| 3 | g.172448322C>G | CA355516710 | GHSR | c.92G>C (p.Gly31Ala)
| |
| 3 | g.172448322C>T | CA355516711 | GHSR | c.92G>A (p.Gly31Asp)
| |
| 3 | g.172448323C>A | CA355516713 | GHSR | c.91G>T (p.Gly31Cys)
| |
| 3 | g.172448323C= | CA1420511887 | GHSR | c.91G= (p.Gly31=)
| |
| 3 | g.172448323C>G | CA355516712 | GHSR | c.91G>C (p.Gly31Arg)
| gnomAD v4 |
| 3 | g.172448323C>T | CA2706539 | GHSR | c.91G>A (p.Gly31Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448324C>A | CA436965688 | GHSR | c.90G>T (p.Leu30=)
| gnomAD v4 |
| 3 | g.172448324C= | CA1420511888 | GHSR | c.90G= (p.Leu30=)
| |
| 3 | g.172448324C>G | CA436965689 | GHSR | c.90G>C (p.Leu30=)
| |
| 3 | g.172448324C>T | CA436965690 | GHSR | c.90G>A (p.Leu30=)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448325A>C | CA355516714 | GHSR | c.89T>G (p.Leu30Arg)
| |
| 3 | g.172448325A>G | CA355516715 | GHSR | c.89T>C (p.Leu30Pro)
| |
| 3 | g.172448325A>T | CA355516716 | GHSR | c.89T>A (p.Leu30Gln)
| |
| 3 | g.172448326G>A | CA436965691 | GHSR | c.88C>T (p.Leu30=)
| |
| 3 | g.172448326G>C | CA355516717 | GHSR | c.88C>G (p.Leu30Val)
| |
| 3 | g.172448326G>T | CA355516718 | GHSR | c.88C>A (p.Leu30Met)
| |
| 3 | g.172448327C>A | CA2706540 | GHSR | c.87G>T (p.Ser29=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448327C= | CA1420511889 | GHSR | c.87G= (p.Ser29=)
| |
| 3 | g.172448327C>G | CA436965693 | GHSR | c.87G>C (p.Ser29=)
| gnomAD v4 |
| 3 | g.172448327C>T | CA436965692 | GHSR | c.87G>A (p.Ser29=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448328G>A | CA87786367 | GHSR | c.86C>T (p.Ser29Leu)
| dbSNP |
| 3 | g.172448328G>C | CA355516719 | GHSR | c.86C>G (p.Ser29Trp)
| gnomAD v4 |
| 3 | g.172448328G= | CA1420511890 | GHSR | c.86C= (p.Ser29=)
| |
| 3 | g.172448328G>T | CA355516720 | GHSR | c.86C>A (p.Ser29Ter)
| COSMIC COSMIC |
| 3 | g.172448329A>C | CA355516721 | GHSR | c.85T>G (p.Ser29Ala)
| |
| 3 | g.172448329A>G | CA355516722 | GHSR | c.85T>C (p.Ser29Pro)
| |
| 3 | g.172448329A>T | CA355516723 | GHSR | c.85T>A (p.Ser29Thr)
| |
| 3 | g.172448330G>A | CA2706541 | GHSR | c.84C>T (p.Asp28=)
| ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.172448330G>C | CA355516725 | GHSR | c.84C>G (p.Asp28Glu)
| |
| 3 | g.172448330G= | CA1420511891 | GHSR | c.84C= (p.Asp28=)
| |
| 3 | g.172448330G>T | CA355516724 | GHSR | c.84C>A (p.Asp28Glu)
| |
| 3 | g.172448331T>A | CA355516726 | GHSR | c.83A>T (p.Asp28Val)
| |
| 3 | g.172448331T>C | CA355516727 | GHSR | c.83A>G (p.Asp28Gly)
| dbSNP gnomAD v4 |
| 3 | g.172448331T>G | CA355516728 | GHSR | c.83A>C (p.Asp28Ala)
| |
| 3 | g.172448331T= | CA1420511892 | GHSR | c.83A= (p.Asp28=)
| |
| 3 | g.172448332C>A | CA355516729 | GHSR | c.82G>T (p.Asp28Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448332C= | CA1420511893 | GHSR | c.82G= (p.Asp28=)
| |
| 3 | g.172448332C>G | CA355516730 | GHSR | c.82G>C (p.Asp28His)
| |
| 3 | g.172448332C>T | CA355516731 | GHSR | c.82G>A (p.Asp28Asn)
| gnomAD v4 |
| 3 | g.172448333G>A | CA2706542 | GHSR | c.81C>T (p.Asn27=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448333G>C | CA355516732 | GHSR | c.81C>G (p.Asn27Lys)
| |
| 3 | g.172448333G= | CA1420511894 | GHSR | c.81C= (p.Asn27=)
| |
| 3 | g.172448333G>T | CA355516733 | GHSR | c.81C>A (p.Asn27Lys)
| dbSNP gnomAD v4 |
| 3 | g.172448334T>A | CA355516734 | GHSR | c.80A>T (p.Asn27Ile)
| |
| 3 | g.172448334T>C | CA355516735 | GHSR | c.80A>G (p.Asn27Ser)
| |
| 3 | g.172448334T>G | CA355516736 | GHSR | c.80A>C (p.Asn27Thr)
| |
| 3 | g.172448335T>A | CA355516738 | GHSR | c.79A>T (p.Asn27Tyr)
| |
| 3 | g.172448335T>C | CA355516739 | GHSR | c.79A>G (p.Asn27Asp)
| |
| 3 | g.172448335T>G | CA355516737 | GHSR | c.79A>C (p.Asn27His)
| |
| 3 | g.172448336G>A | CA87786383 | GHSR | c.78C>T (p.Gly26=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448336G>C | CA436965700 | GHSR | c.78C>G (p.Gly26=)
| |
| 3 | g.172448336G= | CA1420511895 | GHSR | c.78C= (p.Gly26=)
| |
| 3 | g.172448336G>T | CA87786382 | GHSR | c.78C>A (p.Gly26=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448337C>A | CA355516740 | GHSR | c.77G>T (p.Gly26Val)
| |
| 3 | g.172448337C>G | CA355516741 | GHSR | c.77G>C (p.Gly26Ala)
| |
| 3 | g.172448337C>T | CA355516743 | GHSR | c.77G>A (p.Gly26Asp)
| |
| 3 | g.172448338C>A | CA355516748 | GHSR | c.76G>T (p.Gly26Cys)
| |
| 3 | g.172448338C= | CA1420511896 | GHSR | c.76G= (p.Gly26=)
| |
| 3 | g.172448338C>G | CA355516744 | GHSR | c.76G>C (p.Gly26Arg)
| dbSNP gnomAD v4 |
| 3 | g.172448338C>T | CA355516746 | GHSR | c.76G>A (p.Gly26Ser)
| dbSNP gnomAD v4 |
| 3 | g.172448339G>A | CA436965705 | GHSR | c.75C>T (p.Pro25=)
| gnomAD v4 COSMIC COSMIC |
| 3 | g.172448339G>C | CA436965706 | GHSR | c.75C>G (p.Pro25=)
| ClinVar |
| 3 | g.172448339G>T | CA436965707 | GHSR | c.75C>A (p.Pro25=)
| gnomAD v4 |
| 3 | g.172448343dup | CA2573136823 | GHSR | c.75dup (p.Gly26ArgfsTer?)
| ClinVar dbSNP gnomAD v4 |
| 3 | g.172448343del | CA2577960387 | GHSR | c.75del (p.Gly26AlafsTer?)
| |
| 3 | g.172448340G>A | CA355516751 | GHSR | c.74C>T (p.Pro25Leu)
| |
| 3 | g.172448340G>C | CA355516752 | GHSR | c.74C>G (p.Pro25Arg)
| |
| 3 | g.172448340G>T | CA355516754 | GHSR | c.74C>A (p.Pro25His)
| gnomAD v4 |
| 3 | g.172448341G>A | CA355516756 | GHSR | c.73C>T (p.Pro25Ser)
| COSMIC COSMIC |
| 3 | g.172448341G>C | CA355516758 | GHSR | c.73C>G (p.Pro25Ala)
| |
| 3 | g.172448341G>T | CA355516759 | GHSR | c.73C>A (p.Pro25Thr)
| |
| 3 | g.172448342G>A | CA436965711 | GHSR | c.72C>T (p.Ser24=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448342G>C | CA436965712 | GHSR | c.72C>G (p.Ser24=)
| gnomAD v4 |
| 3 | g.172448342G= | CA1420511897 | GHSR | c.72C= (p.Ser24=)
| |
| 3 | g.172448342G>T | CA436965713 | GHSR | c.72C>A (p.Ser24=)
| dbSNP |
| 3 | g.172448343G>A | CA87786386 | GHSR | c.71C>T (p.Ser24Phe)
| dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.172448343G>C | CA355516762 | GHSR | c.71C>G (p.Ser24Cys)
| |
| 3 | g.172448343G= | CA1420511898 | GHSR | c.71C= (p.Ser24=)
| |
| 3 | g.172448343G>T | CA355516760 | GHSR | c.71C>A (p.Ser24Tyr)
| |
| 3 | g.172448344A>C | CA355516765 | GHSR | c.70T>G (p.Ser24Ala)
| |
| 3 | g.172448344A>G | CA355516768 | GHSR | c.70T>C (p.Ser24Pro)
| |
| 3 | g.172448344A>T | CA355516766 | GHSR | c.70T>A (p.Ser24Thr)
| |
| 3 | g.172448345A= | CA1420511899 | GHSR | c.69T= (p.Ala23=)
| |
| 3 | g.172448345A>C | CA436965715 | GHSR | c.69T>G (p.Ala23=)
| dbSNP |
| 3 | g.172448345A>G | CA436965716 | GHSR | c.69T>C (p.Ala23=)
| |
| 3 | g.172448345A>T | CA436965717 | GHSR | c.69T>A (p.Ala23=)
| |
| 3 | g.172448346G>A | CA2706543 | GHSR | c.68C>T (p.Ala23Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448346G>C | CA355516771 | GHSR | c.68C>G (p.Ala23Gly)
| |
| 3 | g.172448346G= | CA1420511900 | GHSR | c.68C= (p.Ala23=)
| |
| 3 | g.172448346G>T | CA355516770 | GHSR | c.68C>A (p.Ala23Asp)
| |
| 3 | g.172448347C>A | CA355516772 | GHSR | c.67G>T (p.Ala23Ser)
| gnomAD v4 |
| 3 | g.172448347C>G | CA355516773 | GHSR | c.67G>C (p.Ala23Pro)
| |
| 3 | g.172448347C>T | CA355516774 | GHSR | c.67G>A (p.Ala23Thr)
| |
| 3 | g.172448348A>C | CA355516776 | GHSR | c.66T>G (p.Asp22Glu)
| |
| 3 | g.172448348A>G | CA436965721 | GHSR | c.66T>C (p.Asp22=)
| |
| 3 | g.172448348A>T | CA355516778 | GHSR | c.66T>A (p.Asp22Glu)
| |
| 3 | g.172448349T>A | CA355516780 | GHSR | c.65A>T (p.Asp22Val)
| |
| 3 | g.172448349T>C | CA355516782 | GHSR | c.65A>G (p.Asp22Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448349T>G | CA355516783 | GHSR | c.65A>C (p.Asp22Ala)
| |
| 3 | g.172448349T= | CA1420511901 | GHSR | c.65A= (p.Asp22=)
| |
| 3 | g.172448350C>A | CA355516784 | GHSR | c.64G>T (p.Asp22Tyr)
| |
| 3 | g.172448350C>G | CA355516785 | GHSR | c.64G>C (p.Asp22His)
| |
| 3 | g.172448350C>T | CA355516787 | GHSR | c.64G>A (p.Asp22Asn)
| |
| 3 | g.172448351C>A | CA355516789 | GHSR | c.63G>T (p.Trp21Cys)
| gnomAD v4 |
| 3 | g.172448351C= | CA1420511902 | GHSR | c.63G= (p.Trp21=)
| |
| 3 | g.172448351C>G | CA355516792 | GHSR | c.63G>C (p.Trp21Cys)
| dbSNP |
| 3 | g.172448351C>T | CA355516791 | GHSR | c.63G>A (p.Trp21Ter)
| COSMIC COSMIC |
| 3 | g.172448352C>A | CA355516794 | GHSR | c.62G>T (p.Trp21Leu)
| |
| 3 | g.172448352C>G | CA355516796 | GHSR | c.62G>C (p.Trp21Ser)
| |
| 3 | g.172448352C>T | CA355516797 | GHSR | c.62G>A (p.Trp21Ter)
| |
| 3 | g.172448353A>C | CA355516799 | GHSR | c.61T>G (p.Trp21Gly)
| |
| 3 | g.172448353A>G | CA355516800 | GHSR | c.61T>C (p.Trp21Arg)
| |
| 3 | g.172448353A>T | CA355516802 | GHSR | c.61T>A (p.Trp21Arg)
| gnomAD v4 |
| 3 | g.172448354G>A | CA2706544 | GHSR | c.60C>T (p.Asp20=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448354G>C | CA355516805 | GHSR | c.60C>G (p.Asp20Glu)
| |
| 3 | g.172448354G= | CA1420511903 | GHSR | c.60C= (p.Asp20=)
| |
| 3 | g.172448354G>T | CA355516806 | GHSR | c.60C>A (p.Asp20Glu)
| gnomAD v4 |
| 3 | g.172448355T>A | CA355516809 | GHSR | c.59A>T (p.Asp20Val)
| |
| 3 | g.172448355T>C | CA355516811 | GHSR | c.59A>G (p.Asp20Gly)
| |
| 3 | g.172448355T>G | CA355516807 | GHSR | c.59A>C (p.Asp20Ala)
| |
| 3 | g.172448356C>A | CA2706545 | GHSR | c.58G>T (p.Asp20Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448356C= | CA1420511904 | GHSR | c.58G= (p.Asp20=)
| |
| 3 | g.172448356C>G | CA355516814 | GHSR | c.58G>C (p.Asp20His)
| |
| 3 | g.172448356C>T | CA355516816 | GHSR | c.58G>A (p.Asp20Asn)
| |
| 3 | g.172448357C>A | CA436965729 | GHSR | c.57G>T (p.Leu19=)
| |
| 3 | g.172448357C= | CA1420511905 | GHSR | c.57G= (p.Leu19=)
| |
| 3 | g.172448357C>G | CA436965730 | GHSR | c.57G>C (p.Leu19=)
| |
| 3 | g.172448357C>T | CA436965731 | GHSR | c.57G>A (p.Leu19=)
| ClinVar dbSNP |
| 3 | g.172448358A= | CA1420511906 | GHSR | c.56T= (p.Leu19=)
| |
| 3 | g.172448358A>C | CA2706546 | GHSR | c.56T>G (p.Leu19Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448358A>G | CA355516818 | GHSR | c.56T>C (p.Leu19Pro)
| |
| 3 | g.172448358A>T | CA87786418 | GHSR | c.56T>A (p.Leu19Gln)
| ClinVar dbSNP gnomAD v4 |
| 3 | g.172448359G>A | CA436965732 | GHSR | c.55C>T (p.Leu19=)
| |
| 3 | g.172448359G>C | CA355516821 | GHSR | c.55C>G (p.Leu19Val)
| |
| 3 | g.172448359G= | CA1420511907 | GHSR | c.55C= (p.Leu19=)
| |
| 3 | g.172448359G>T | CA355516823 | GHSR | c.55C>A (p.Leu19Met)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448359_172448360delinsCT | CA2580069087 | GHSR | c.54_55delinsAG (p.Asp18_Leu19delinsGluVal)
| ClinVar |
| 3 | g.172448360G>A | CA436965733 | GHSR | c.54C>T (p.Asp18=)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448360G>C | CA355516825 | GHSR | c.54C>G (p.Asp18Glu)
| |
| 3 | g.172448360G= | CA1420511908 | GHSR | c.54C= (p.Asp18=)
| |
| 3 | g.172448360G>T | CA355516827 | GHSR | c.54C>A (p.Asp18Glu)
| gnomAD v4 |
| 3 | g.172448361T>A | CA355516829 | GHSR | c.53A>T (p.Asp18Val)
| |
| 3 | g.172448361T>C | CA355516830 | GHSR | c.53A>G (p.Asp18Gly)
| |
| 3 | g.172448361T>G | CA355516832 | GHSR | c.53A>C (p.Asp18Ala)
| |
| 3 | g.172448362C>A | CA2706547 | GHSR | c.52G>T (p.Asp18Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448362C= | CA1420511909 | GHSR | c.52G= (p.Asp18=)
| |
| 3 | g.172448362C>G | CA355516835 | GHSR | c.52G>C (p.Asp18His)
| gnomAD v4 |
| 3 | g.172448362C>T | CA2706548 | GHSR | c.52G>A (p.Asp18Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448363G>A | CA436965738 | GHSR | c.51C>T (p.Ala17=)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448363G>C | CA436965739 | GHSR | c.51C>G (p.Ala17=)
| gnomAD v4 |
| 3 | g.172448363G= | CA1420511910 | GHSR | c.51C= (p.Ala17=)
| |
| 3 | g.172448363G>T | CA436965740 | GHSR | c.51C>A (p.Ala17=)
| |
| 3 | g.172448364G>A | CA355516837 | GHSR | c.50C>T (p.Ala17Val)
| gnomAD v4 |
| 3 | g.172448364G>C | CA87786448 | GHSR | c.50C>G (p.Ala17Gly)
| dbSNP |
| 3 | g.172448364G= | CA1420511911 | GHSR | c.50C= (p.Ala17=)
| |
| 3 | g.172448364G>T | CA355516839 | GHSR | c.50C>A (p.Ala17Asp)
| ClinVar gnomAD v4 |
| 3 | g.172448365C>A | CA355516841 | GHSR | c.49G>T (p.Ala17Ser)
| |
| 3 | g.172448365C= | CA1420511912 | GHSR | c.49G= (p.Ala17=)
| |
| 3 | g.172448365C>G | CA355516842 | GHSR | c.49G>C (p.Ala17Pro)
| |
| 3 | g.172448365C>T | CA355516843 | GHSR | c.49G>A (p.Ala17Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448366C>A | CA436965742 | GHSR | c.48G>T (p.Leu16=)
| |
| 3 | g.172448366C>G | CA436965743 | GHSR | c.48G>C (p.Leu16=)
| |
| 3 | g.172448366C>T | CA436965744 | GHSR | c.48G>A (p.Leu16=)
| |
| 3 | g.172448367A>C | CA355516845 | GHSR | c.47T>G (p.Leu16Arg)
| |
| 3 | g.172448367A>G | CA355516847 | GHSR | c.47T>C (p.Leu16Pro)
| gnomAD v4 |
| 3 | g.172448367A>T | CA355516848 | GHSR | c.47T>A (p.Leu16Gln)
| |
| 3 | g.172448368G>A | CA436965745 | GHSR | c.46C>T (p.Leu16=)
| dbSNP gnomAD v4 |
| 3 | g.172448368G>C | CA355516849 | GHSR | c.46C>G (p.Leu16Val)
| |
| 3 | g.172448368G= | CA1420511913 | GHSR | c.46C= (p.Leu16=)
| |
| 3 | g.172448368G>T | CA355516850 | GHSR | c.46C>A (p.Leu16Met)
| |
| 3 | g.172448369T>A | CA2706549 | GHSR | c.45A>T (p.Thr15=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448369T>C | CA436965749 | GHSR | c.45A>G (p.Thr15=)
| |
| 3 | g.172448369T>G | CA436965748 | GHSR | c.45A>C (p.Thr15=)
| |
| 3 | g.172448369T= | CA1420511914 | GHSR | c.45A= (p.Thr15=)
| |
| 3 | g.172448370G>A | CA355516853 | GHSR | c.44C>T (p.Thr15Ile)
| gnomAD v4 |
| 3 | g.172448370G>C | CA355516855 | GHSR | c.44C>G (p.Thr15Arg)
| |
| 3 | g.172448370G>T | CA355516852 | GHSR | c.44C>A (p.Thr15Lys)
| |
| 3 | g.172448371T>A | CA355516858 | GHSR | c.43A>T (p.Thr15Ser)
| |
| 3 | g.172448371T>C | CA355516856 | GHSR | c.43A>G (p.Thr15Ala)
| |
| 3 | g.172448371T>G | CA355516857 | GHSR | c.43A>C (p.Thr15Pro)
| gnomAD v4 |
| 3 | g.172448372G>A | CA436965751 | GHSR | c.42C>T (p.Leu14=)
| gnomAD v4 |
| 3 | g.172448372G>C | CA436965752 | GHSR | c.42C>G (p.Leu14=)
| |
| 3 | g.172448372G>T | CA436965753 | GHSR | c.42C>A (p.Leu14=)
| |
