| 3 | g.172447992_172448073delinsCGCTCGACGCTCAGCGCTGTGATGGTGAGCACCGTGGCGTAGGTGCAGCTCTCACTGACGAATTGGAAGAGTTTGCAGAGGA | CA1420511719 | GHSR | c.341_422delinsTCCTCTGCAAACTCTTCCAATTCGTCAGTGAGAGCTGCACCTACGCCACGGTGCTCACCATCACAGCGCTGAGCGTCGAGCG (p.Leu114=)
| |
| 3 | g.172447994_172448074del | CA548333798 | GHSR | c.341_421del (p.Leu114_Glu140del)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448050C>A | CA87785781 | GHSR | c.364G>T (p.Val122Phe)
| dbSNP gnomAD v4 |
| 3 | g.172448050C= | CA1420511749 | GHSR | c.364G= (p.Val122=)
| |
| 3 | g.172448050C>G | CA355514882 | GHSR | c.364G>C (p.Val122Leu)
| gnomAD v4 |
| 3 | g.172448050C>T | CA87785786 | GHSR | c.364G>A (p.Val122Ile)
| dbSNP gnomAD v2 COSMIC COSMIC |
| 3 | g.172448051G>A | CA436966408 | GHSR | c.363C>T (p.Phe121=)
| |
| 3 | g.172448051G>C | CA355514884 | GHSR | c.363C>G (p.Phe121Leu)
| |
| 3 | g.172448051G>T | CA355514886 | GHSR | c.363C>A (p.Phe121Leu)
| |
| 3 | g.172448052A>C | CA355514888 | GHSR | c.362T>G (p.Phe121Cys)
| |
| 3 | g.172448052A>G | CA355514890 | GHSR | c.362T>C (p.Phe121Ser)
| |
| 3 | g.172448052A>T | CA355514892 | GHSR | c.362T>A (p.Phe121Tyr)
| |
| 3 | g.172448053A>C | CA355514897 | GHSR | c.361T>G (p.Phe121Val)
| |
| 3 | g.172448053A>G | CA355514896 | GHSR | c.361T>C (p.Phe121Leu)
| |
| 3 | g.172448053A>T | CA355514894 | GHSR | c.361T>A (p.Phe121Ile)
| |
| 3 | g.172448054T>A | CA355514899 | GHSR | c.360A>T (p.Gln120His)
| dbSNP |
| 3 | g.172448054T>C | CA2706485 | GHSR | c.360A>G (p.Gln120=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448054T>G | CA355514901 | GHSR | c.360A>C (p.Gln120His)
| |
| 3 | g.172448054T= | CA1420511750 | GHSR | c.360A= (p.Gln120=)
| |
| 3 | g.172448055T>A | CA355514904 | GHSR | c.359A>T (p.Gln120Leu)
| |
| 3 | g.172448055T>C | CA355514905 | GHSR | c.359A>G (p.Gln120Arg)
| |
| 3 | g.172448055T>G | CA355514906 | GHSR | c.359A>C (p.Gln120Pro)
| |
| 3 | g.172448056G>A | CA355514908 | GHSR | c.358C>T (p.Gln120Ter)
| COSMIC COSMIC |
| 3 | g.172448056G>C | CA355514910 | GHSR | c.358C>G (p.Gln120Glu)
| |
| 3 | g.172448056G>T | CA355514911 | GHSR | c.358C>A (p.Gln120Lys)
| |
| 3 | g.172448057G>A | CA2706486 | GHSR | c.357C>T (p.Phe119=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448057G>C | CA355514914 | GHSR | c.357C>G (p.Phe119Leu)
| gnomAD v4 |
| 3 | g.172448057G= | CA1420511751 | GHSR | c.357C= (p.Phe119=)
| |
| 3 | g.172448057G>T | CA355514915 | GHSR | c.357C>A (p.Phe119Leu)
| |
| 3 | g.172448058A>C | CA355514918 | GHSR | c.356T>G (p.Phe119Cys)
| gnomAD v4 |
| 3 | g.172448058A>G | CA355514919 | GHSR | c.356T>C (p.Phe119Ser)
| |
| 3 | g.172448058A>T | CA355514917 | GHSR | c.356T>A (p.Phe119Tyr)
| |
| 3 | g.172448059A= | CA1420511752 | GHSR | c.355T= (p.Phe119=)
| |
| 3 | g.172448059A>C | CA355514921 | GHSR | c.355T>G (p.Phe119Val)
| |
| 3 | g.172448059A>G | CA2706487 | GHSR | c.355T>C (p.Phe119Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448059A>T | CA355514923 | GHSR | c.355T>A (p.Phe119Ile)
| |
| 3 | g.172448061_172448062del | CA2668560147 | GHSR | c.354_355del (p.Phe119ProfsTer5)
| gnomAD v4 |
| 3 | g.172448060G>A | CA2706488 | GHSR | c.354C>T (p.Leu118=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448060G>C | CA2706489 | GHSR | c.354C>G (p.Leu118=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448060G= | CA1420511753 | GHSR | c.354C= (p.Leu118=)
| |
| 3 | g.172448060G>T | CA436966431 | GHSR | c.354C>A (p.Leu118=)
| |
| 3 | g.172448061A= | CA1420511754 | GHSR | c.353T= (p.Leu118=)
| |
| 3 | g.172448061A>C | CA355514930 | GHSR | c.353T>G (p.Leu118Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448061A>G | CA355514927 | GHSR | c.353T>C (p.Leu118Pro)
| |
| 3 | g.172448061A>T | CA355514928 | GHSR | c.353T>A (p.Leu118His)
| |
| 3 | g.172448062G>A | CA355514933 | GHSR | c.352C>T (p.Leu118Phe)
| |
| 3 | g.172448062G>C | CA355514934 | GHSR | c.352C>G (p.Leu118Val)
| |
| 3 | g.172448062G>T | CA355514936 | GHSR | c.352C>A (p.Leu118Ile)
| |
| 3 | g.172448063T>A | CA355514938 | GHSR | c.351A>T (p.Lys117Asn)
| dbSNP COSMIC COSMIC |
| 3 | g.172448063T>C | CA2706490 | GHSR | c.351A>G (p.Lys117=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448063T>G | CA355514940 | GHSR | c.351A>C (p.Lys117Asn)
| |
| 3 | g.172448063T= | CA1420511755 | GHSR | c.351A= (p.Lys117=)
| |
| 3 | g.172448064T>A | CA355514944 | GHSR | c.350A>T (p.Lys117Ile)
| COSMIC COSMIC |
| 3 | g.172448064T>C | CA355514946 | GHSR | c.350A>G (p.Lys117Arg)
| |
| 3 | g.172448064T>G | CA355514942 | GHSR | c.350A>C (p.Lys117Thr)
| ClinVar dbSNP gnomAD v4 |
| 3 | g.172448064T= | CA1420511756 | GHSR | c.350A= (p.Lys117=)
| |
| 3 | g.172448065T>A | CA355514950 | GHSR | c.349A>T (p.Lys117Ter)
| |
| 3 | g.172448065T>C | CA355514948 | GHSR | c.349A>G (p.Lys117Glu)
| |
| 3 | g.172448065T>G | CA355514952 | GHSR | c.349A>C (p.Lys117Gln)
| |
| 3 | g.172448066G>A | CA436966442 | GHSR | c.348C>T (p.Cys116=)
| |
| 3 | g.172448066G>C | CA355514953 | GHSR | c.348C>G (p.Cys116Trp)
| |
| 3 | g.172448066G>T | CA355514955 | GHSR | c.348C>A (p.Cys116Ter)
| gnomAD v4 |
| 3 | g.172448067C>A | CA355514957 | GHSR | c.347G>T (p.Cys116Phe)
| COSMIC COSMIC |
| 3 | g.172448067C>G | CA355514958 | GHSR | c.347G>C (p.Cys116Ser)
| |
| 3 | g.172448067C>T | CA355514960 | GHSR | c.347G>A (p.Cys116Tyr)
| |
| 3 | g.172448068A>C | CA355514963 | GHSR | c.346T>G (p.Cys116Gly)
| |
| 3 | g.172448068A>G | CA355514964 | GHSR | c.346T>C (p.Cys116Arg)
| |
| 3 | g.172448068A>T | CA355514965 | GHSR | c.346T>A (p.Cys116Ser)
| |
| 3 | g.172448069G>A | CA436966446 | GHSR | c.345C>T (p.Leu115=)
| gnomAD v4 |
| 3 | g.172448069G>C | CA436966448 | GHSR | c.345C>G (p.Leu115=)
| |
| 3 | g.172448069G>T | CA436966449 | GHSR | c.345C>A (p.Leu115=)
| |
| 3 | g.172448070A= | CA1420511757 | GHSR | c.344T= (p.Leu115=)
| |
| 3 | g.172448070A>C | CA355514967 | GHSR | c.344T>G (p.Leu115Arg)
| |
| 3 | g.172448070A>G | CA355514969 | GHSR | c.344T>C (p.Leu115Pro)
| dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448070A>T | CA355514971 | GHSR | c.344T>A (p.Leu115His)
| |
| 3 | g.172448071G>A | CA355514972 | GHSR | c.343C>T (p.Leu115Phe)
| |
| 3 | g.172448071G>C | CA355514973 | GHSR | c.343C>G (p.Leu115Val)
| |
| 3 | g.172448071G>T | CA355514974 | GHSR | c.343C>A (p.Leu115Ile)
| gnomAD v4 |
| 3 | g.172448072G>A | CA436966452 | GHSR | c.342C>T (p.Leu114=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448072G>C | CA436966453 | GHSR | c.342C>G (p.Leu114=)
| |
| 3 | g.172448072G= | CA1420511758 | GHSR | c.342C= (p.Leu114=)
| |
| 3 | g.172448072G>T | CA436966455 | GHSR | c.342C>A (p.Leu114=)
| dbSNP |
| 3 | g.172448073A>C | CA355514978 | GHSR | c.341T>G (p.Leu114Arg)
| |
| 3 | g.172448073A>G | CA355514977 | GHSR | c.341T>C (p.Leu114Pro)
| |
| 3 | g.172448073A>T | CA355514976 | GHSR | c.341T>A (p.Leu114His)
| |
| 3 | g.172448074G>A | CA355514979 | GHSR | c.340C>T (p.Leu114Phe)
| |
| 3 | g.172448074G>C | CA355514980 | GHSR | c.340C>G (p.Leu114Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448074G= | CA1420511759 | GHSR | c.340C= (p.Leu114=)
| |
| 3 | g.172448074G>T | CA355514981 | GHSR | c.340C>A (p.Leu114Ile)
| |
| 3 | g.172448075G>A | CA436966460 | GHSR | c.339C>T (p.Asp113=)
| |
| 3 | g.172448075G>C | CA355514982 | GHSR | c.339C>G (p.Asp113Glu)
| |
| 3 | g.172448075G>T | CA355514984 | GHSR | c.339C>A (p.Asp113Glu)
| |
| 3 | g.172448076T>A | CA355514986 | GHSR | c.338A>T (p.Asp113Val)
| |
| 3 | g.172448076T>C | CA355514988 | GHSR | c.338A>G (p.Asp113Gly)
| |
| 3 | g.172448076T>G | CA355514989 | GHSR | c.338A>C (p.Asp113Ala)
| |
| 3 | g.172448077C>A | CA355514990 | GHSR | c.337G>T (p.Asp113Tyr)
| |
| 3 | g.172448077C>G | CA355514992 | GHSR | c.337G>C (p.Asp113His)
| ClinVar |
| 3 | g.172448077C>T | CA355514994 | GHSR | c.337G>A (p.Asp113Asn)
| gnomAD v4 COSMIC COSMIC |
| 3 | g.172448078G>A | CA436966463 | GHSR | c.336C>T (p.Gly112=)
| gnomAD v4 |
| 3 | g.172448078G>C | CA436966464 | GHSR | c.336C>G (p.Gly112=)
| |
| 3 | g.172448078G>T | CA436966465 | GHSR | c.336C>A (p.Gly112=)
| |
| 3 | g.172448079C>A | CA355514996 | GHSR | c.335G>T (p.Gly112Val)
| |
| 3 | g.172448079C>G | CA355514998 | GHSR | c.335G>C (p.Gly112Ala)
| |
| 3 | g.172448079C>T | CA355515000 | GHSR | c.335G>A (p.Gly112Asp)
| |
| 3 | g.172448080C>A | CA355515002 | GHSR | c.334G>T (p.Gly112Cys)
| |
| 3 | g.172448080C= | CA1420511760 | GHSR | c.334G= (p.Gly112=)
| |
| 3 | g.172448080C>G | CA87785858 | GHSR | c.334G>C (p.Gly112Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448080C>T | CA355515001 | GHSR | c.334G>A (p.Gly112Ser)
| COSMIC COSMIC |
| 3 | g.172448081G>A | CA436966472 | GHSR | c.333C>T (p.Phe111=)
| gnomAD v4 |
| 3 | g.172448081G>C | CA355515004 | GHSR | c.333C>G (p.Phe111Leu)
| |
| 3 | g.172448081G>T | CA355515005 | GHSR | c.333C>A (p.Phe111Leu)
| |
| 3 | g.172448082A>C | CA355515006 | GHSR | c.332T>G (p.Phe111Cys)
| |
| 3 | g.172448082A>G | CA355515008 | GHSR | c.332T>C (p.Phe111Ser)
| |
| 3 | g.172448082A>T | CA355515009 | GHSR | c.332T>A (p.Phe111Tyr)
| |
| 3 | g.172448083A>C | CA355515011 | GHSR | c.331T>G (p.Phe111Val)
| |
| 3 | g.172448083A>G | CA355515013 | GHSR | c.331T>C (p.Phe111Leu)
| |
| 3 | g.172448083A>T | CA355515015 | GHSR | c.331T>A (p.Phe111Ile)
| |
| 3 | g.172448084G>A | CA436966475 | GHSR | c.330C>T (p.Asn110=)
| gnomAD v4 |
| 3 | g.172448084G>C | CA355515016 | GHSR | c.330C>G (p.Asn110Lys)
| |
| 3 | g.172448084G>T | CA355515017 | GHSR | c.330C>A (p.Asn110Lys)
| |
| 3 | g.172448085T>A | CA355515019 | GHSR | c.329A>T (p.Asn110Ile)
| |
| 3 | g.172448085T>C | CA355515021 | GHSR | c.329A>G (p.Asn110Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448085T>G | CA355515022 | GHSR | c.329A>C (p.Asn110Thr)
| |
| 3 | g.172448085T= | CA1420511761 | GHSR | c.329A= (p.Asn110=)
| |
| 3 | g.172448086T>A | CA355515027 | GHSR | c.328A>T (p.Asn110Tyr)
| |
| 3 | g.172448086T>C | CA355515024 | GHSR | c.328A>G (p.Asn110Asp)
| |
| 3 | g.172448086T>G | CA355515026 | GHSR | c.328A>C (p.Asn110His)
| |
| 3 | g.172448087C>A | CA355515028 | GHSR | c.327G>T (p.Trp109Cys)
| |
| 3 | g.172448087C= | CA1420511762 | GHSR | c.327G= (p.Trp109=)
| |
| 3 | g.172448087C>G | CA355515029 | GHSR | c.327G>C (p.Trp109Cys)
| gnomAD v4 |
| 3 | g.172448087C>T | CA355515031 | GHSR | c.327G>A (p.Trp109Ter)
| dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.172448088C>A | CA355515032 | GHSR | c.326G>T (p.Trp109Leu)
| |
| 3 | g.172448088C>G | CA355515033 | GHSR | c.326G>C (p.Trp109Ser)
| |
| 3 | g.172448088C>T | CA355515035 | GHSR | c.326G>A (p.Trp109Ter)
| |
| 3 | g.172448089A= | CA1420511763 | GHSR | c.325T= (p.Trp109=)
| |
| 3 | g.172448089A>C | CA355515037 | GHSR | c.325T>G (p.Trp109Gly)
| |
| 3 | g.172448089A>G | CA2706491 | GHSR | c.325T>C (p.Trp109Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448089A>T | CA355515039 | GHSR | c.325T>A (p.Trp109Arg)
| |
| 3 | g.172448090G>A | CA436966482 | GHSR | c.324C>T (p.Pro108=)
| |
| 3 | g.172448090G>C | CA436966483 | GHSR | c.324C>G (p.Pro108=)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448090G= | CA1420511764 | GHSR | c.324C= (p.Pro108=)
| |
| 3 | g.172448090G>T | CA436966485 | GHSR | c.324C>A (p.Pro108=)
| |
| 3 | g.172448092del | CA2668560148 | GHSR | c.324del (p.Trp109GlyfsTer29)
| gnomAD v4 |
| 3 | g.172448091G>A | CA2706492 | GHSR | c.323C>T (p.Pro108Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448091G>C | CA355515041 | GHSR | c.323C>G (p.Pro108Arg)
| |
| 3 | g.172448091G= | CA1420511765 | GHSR | c.323C= (p.Pro108=)
| |
| 3 | g.172448091G>T | CA355515043 | GHSR | c.323C>A (p.Pro108His)
| |
| 3 | g.172448092G>A | CA355515048 | GHSR | c.322C>T (p.Pro108Ser)
| |
| 3 | g.172448092G>C | CA355515045 | GHSR | c.322C>G (p.Pro108Ala)
| |
| 3 | g.172448092G>T | CA355515046 | GHSR | c.322C>A (p.Pro108Thr)
| |
| 3 | g.172448093C>A | CA436966492 | GHSR | c.321G>T (p.Arg107=)
| |
| 3 | g.172448093C= | CA1420511766 | GHSR | c.321G= (p.Arg107=)
| |
| 3 | g.172448093C>G | CA2706493 | GHSR | c.321G>C (p.Arg107=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448093C>T | CA436966494 | GHSR | c.321G>A (p.Arg107=)
| |
| 3 | g.172448094C>A | CA355515050 | GHSR | c.320G>T (p.Arg107Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448094C= | CA1420511767 | GHSR | c.320G= (p.Arg107=)
| |
| 3 | g.172448094C>G | CA355515052 | GHSR | c.320G>C (p.Arg107Pro)
| |
| 3 | g.172448094C>T | CA355515054 | GHSR | c.320G>A (p.Arg107Gln)
| |
| 3 | g.172448094_172448095delinsCG | CA1420511768 | GHSR | c.319_320delinsCG (p.Arg107=)
| |
| 3 | g.172448095G>A | CA87785876 | GHSR | c.319C>T (p.Arg107Trp)
| dbSNP gnomAD v2 COSMIC COSMIC |
| 3 | g.172448095G>C | CA355515056 | GHSR | c.319C>G (p.Arg107Gly)
| |
| 3 | g.172448095G= | CA1420511769 | GHSR | c.319C= (p.Arg107=)
| |
| 3 | g.172448095G>T | CA436966496 | GHSR | c.319C>A (p.Arg107=)
| |
| 3 | g.172448096del | CA548333815 | GHSR | c.319del (p.Arg107GlyfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448096G>A | CA436966497 | GHSR | c.318C>T (p.Tyr106=)
| gnomAD v4 |
| 3 | g.172448096G>C | CA355515058 | GHSR | c.318C>G (p.Tyr106Ter)
| gnomAD v4 |
| 3 | g.172448096G>T | CA355515060 | GHSR | c.318C>A (p.Tyr106Ter)
| |
| 3 | g.172448097T>A | CA355515061 | GHSR | c.317A>T (p.Tyr106Phe)
| |
| 3 | g.172448097T>C | CA355515063 | GHSR | c.317A>G (p.Tyr106Cys)
| gnomAD v4 |
| 3 | g.172448097T>G | CA355515062 | GHSR | c.317A>C (p.Tyr106Ser)
| |
| 3 | g.172448098A>C | CA355515065 | GHSR | c.316T>G (p.Tyr106Asp)
| |
| 3 | g.172448098A>G | CA355515067 | GHSR | c.316T>C (p.Tyr106His)
| gnomAD v4 |
| 3 | g.172448098A>T | CA355515068 | GHSR | c.316T>A (p.Tyr106Asn)
| |
| 3 | g.172448099C>A | CA355515070 | GHSR | c.315G>T (p.Gln105His)
| dbSNP gnomAD v4 |
| 3 | g.172448099C= | CA1420511770 | GHSR | c.315G= (p.Gln105=)
| |
| 3 | g.172448099C>G | CA355515071 | GHSR | c.315G>C (p.Gln105His)
| |
| 3 | g.172448099C>T | CA436966501 | GHSR | c.315G>A (p.Gln105=)
| |
| 3 | g.172448100T>A | CA355515073 | GHSR | c.314A>T (p.Gln105Leu)
| |
| 3 | g.172448100T>C | CA355515077 | GHSR | c.314A>G (p.Gln105Arg)
| |
| 3 | g.172448100T>G | CA355515075 | GHSR | c.314A>C (p.Gln105Pro)
| |
| 3 | g.172448101G>A | CA355515079 | GHSR | c.313C>T (p.Gln105Ter)
| |
| 3 | g.172448101G>C | CA355515081 | GHSR | c.313C>G (p.Gln105Glu)
| |
| 3 | g.172448101G= | CA1420511771 | GHSR | c.313C= (p.Gln105=)
| |
| 3 | g.172448101G>T | CA355515083 | GHSR | c.313C>A (p.Gln105Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448102C>A | CA355515084 | GHSR | c.312G>T (p.Trp104Cys)
| |
| 3 | g.172448102C= | CA1420511772 | GHSR | c.312G= (p.Trp104=)
| |
| 3 | g.172448102C>G | CA355515086 | GHSR | c.312G>C (p.Trp104Cys)
| |
| 3 | g.172448102C>T | CA355515087 | GHSR | c.312G>A (p.Trp104Ter)
| dbSNP gnomAD v2 |
| 3 | g.172448103C>A | CA355515089 | GHSR | c.311G>T (p.Trp104Leu)
| |
| 3 | g.172448103C>G | CA355515091 | GHSR | c.311G>C (p.Trp104Ser)
| |
| 3 | g.172448103C>T | CA355515092 | GHSR | c.311G>A (p.Trp104Ter)
| |
| 3 | g.172448104A= | CA1420511773 | GHSR | c.310T= (p.Trp104=)
| |
| 3 | g.172448104A>C | CA355515095 | GHSR | c.310T>G (p.Trp104Gly)
| |
| 3 | g.172448104A>G | CA355515097 | GHSR | c.310T>C (p.Trp104Arg)
| dbSNP |
| 3 | g.172448104A>T | CA355515098 | GHSR | c.310T>A (p.Trp104Arg)
| |
| 3 | g.172448105G>A | CA436966507 | GHSR | c.309C>T (p.Leu103=)
| |
| 3 | g.172448105G>C | CA436966509 | GHSR | c.309C>G (p.Leu103=)
| gnomAD v4 |
| 3 | g.172448105G>T | CA436966510 | GHSR | c.309C>A (p.Leu103=)
| |
| 3 | g.172448106A>C | CA355515100 | GHSR | c.308T>G (p.Leu103Arg)
| |
| 3 | g.172448106A>G | CA355515103 | GHSR | c.308T>C (p.Leu103Pro)
| |
| 3 | g.172448106A>T | CA355515101 | GHSR | c.308T>A (p.Leu103His)
| |
| 3 | g.172448107G>A | CA355515104 | GHSR | c.307C>T (p.Leu103Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448107G>C | CA355515106 | GHSR | c.307C>G (p.Leu103Val)
| |
| 3 | g.172448107G= | CA1420511774 | GHSR | c.307C= (p.Leu103=)
| |
| 3 | g.172448107G>T | CA355515107 | GHSR | c.307C>A (p.Leu103Ile)
| |
| 3 | g.172448108G>A | CA2706494 | GHSR | c.306C>T (p.Arg102=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448108G>C | CA436966515 | GHSR | c.306C>G (p.Arg102=)
| |
| 3 | g.172448108G= | CA1420511775 | GHSR | c.306C= (p.Arg102=)
| |
| 3 | g.172448108G>T | CA436966517 | GHSR | c.306C>A (p.Arg102=)
| |
| 3 | g.172448109C>A | CA355515110 | GHSR | c.305G>T (p.Arg102Leu)
| |
| 3 | g.172448109C= | CA1420511776 | GHSR | c.305G= (p.Arg102=)
| |
| 3 | g.172448109C>G | CA355515112 | GHSR | c.305G>C (p.Arg102Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448109C>T | CA355515113 | GHSR | c.305G>A (p.Arg102His)
| dbSNP gnomAD v4 |
| 3 | g.172448110G>A | CA355515115 | GHSR | c.304C>T (p.Arg102Cys)
| COSMIC COSMIC |
| 3 | g.172448110G>C | CA355515116 | GHSR | c.304C>G (p.Arg102Gly)
| |
| 3 | g.172448110G>T | CA355515118 | GHSR | c.304C>A (p.Arg102Ser)
| |
| 3 | g.172448111A>C | CA436966521 | GHSR | c.303T>G (p.Val101=)
| |
| 3 | g.172448111A>G | CA436966522 | GHSR | c.303T>C (p.Val101=)
| gnomAD v4 |
| 3 | g.172448111A>T | CA436966524 | GHSR | c.303T>A (p.Val101=)
| |
| 3 | g.172448112A>C | CA355515120 | GHSR | c.302T>G (p.Val101Gly)
| |
| 3 | g.172448112A>G | CA355515121 | GHSR | c.302T>C (p.Val101Ala)
| |
| 3 | g.172448112A>T | CA355515123 | GHSR | c.302T>A (p.Val101Asp)
| |
| 3 | g.172448113C>A | CA355515129 | GHSR | c.301G>T (p.Val101Phe)
| gnomAD v4 |
| 3 | g.172448113C>G | CA355515125 | GHSR | c.301G>C (p.Val101Leu)
| |
| 3 | g.172448113C>T | CA355515127 | GHSR | c.301G>A (p.Val101Ile)
| gnomAD v4 |
| 3 | g.172448114G>A | CA436966531 | GHSR | c.300C>T (p.Leu100=)
| gnomAD v4 |
| 3 | g.172448114G>C | CA436966533 | GHSR | c.300C>G (p.Leu100=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448114G= | CA1420511777 | GHSR | c.300C= (p.Leu100=)
| |
| 3 | g.172448114G>T | CA436966532 | GHSR | c.300C>A (p.Leu100=)
| |
| 3 | g.172448115A= | CA1420511778 | GHSR | c.299T= (p.Leu100=)
| |
| 3 | g.172448115A>C | CA355515131 | GHSR | c.299T>G (p.Leu100Arg)
| |
| 3 | g.172448115A>G | CA355515132 | GHSR | c.299T>C (p.Leu100Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448115A>T | CA355515134 | GHSR | c.299T>A (p.Leu100His)
| |
| 3 | g.172448116G>A | CA355515136 | GHSR | c.298C>T (p.Leu100Phe)
| |
| 3 | g.172448116G>C | CA355515137 | GHSR | c.298C>G (p.Leu100Val)
| |
| 3 | g.172448116G>T | CA355515138 | GHSR | c.298C>A (p.Leu100Ile)
| |
| 3 | g.172448116_172448117delinsAT | CA2580610841 | GHSR | c.297_298delinsAT (p.Asp99_Leu100delinsGluPhe)
| |
| 3 | g.172448117G>A | CA436966535 | GHSR | c.297C>T (p.Asp99=)
| |
| 3 | g.172448117G>C | CA355515140 | GHSR | c.297C>G (p.Asp99Glu)
| |
| 3 | g.172448117G= | CA1420511779 | GHSR | c.297C= (p.Asp99=)
| |
| 3 | g.172448117G>T | CA2706495 | GHSR | c.297C>A (p.Asp99Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448118T>A | CA355515142 | GHSR | c.296A>T (p.Asp99Val)
| |
| 3 | g.172448118T>C | CA355515144 | GHSR | c.296A>G (p.Asp99Gly)
| |
| 3 | g.172448118T>G | CA355515145 | GHSR | c.296A>C (p.Asp99Ala)
| |
| 3 | g.172448119C>A | CA355515148 | GHSR | c.295G>T (p.Asp99Tyr)
| |
| 3 | g.172448119C= | CA1420511780 | GHSR | c.295G= (p.Asp99=)
| |
| 3 | g.172448119C>G | CA355515151 | GHSR | c.295G>C (p.Asp99His)
| dbSNP |
| 3 | g.172448119C>T | CA355515149 | GHSR | c.295G>A (p.Asp99Asn)
| |
| 3 | g.172448120C>A | CA436966536 | GHSR | c.294G>T (p.Leu98=)
| |
| 3 | g.172448120C>G | CA436966537 | GHSR | c.294G>C (p.Leu98=)
| |
| 3 | g.172448120C>T | CA436966538 | GHSR | c.294G>A (p.Leu98=)
| |
| 3 | g.172448121del | CA2668560149 | GHSR | c.293del (p.Leu98ArgfsTer?)
| gnomAD v4 |
| 3 | g.172448121A>C | CA355515153 | GHSR | c.293T>G (p.Leu98Arg)
| |
| 3 | g.172448121A>G | CA355515157 | GHSR | c.293T>C (p.Leu98Pro)
| gnomAD v4 COSMIC COSMIC |
| 3 | g.172448121A>T | CA355515155 | GHSR | c.293T>A (p.Leu98Gln)
| |
| 3 | g.172448122G>A | CA436966544 | GHSR | c.292C>T (p.Leu98=)
| |
| 3 | g.172448122G>C | CA355515159 | GHSR | c.292C>G (p.Leu98Val)
| |
| 3 | g.172448122G>T | CA355515161 | GHSR | c.292C>A (p.Leu98Met)
| |
| 3 | g.172448123G>A | CA87785921 | GHSR | c.291C>T (p.Pro97=)
| dbSNP |
| 3 | g.172448123G>C | CA436966546 | GHSR | c.291C>G (p.Pro97=)
| |
| 3 | g.172448123G= | CA1420511781 | GHSR | c.291C= (p.Pro97=)
| |
| 3 | g.172448123G>T | CA436966547 | GHSR | c.291C>A (p.Pro97=)
| |
| 3 | g.172448124G>A | CA355515163 | GHSR | c.290C>T (p.Pro97Leu)
| |
| 3 | g.172448124G>C | CA355515164 | GHSR | c.290C>G (p.Pro97Arg)
| |
| 3 | g.172448124G>T | CA355515166 | GHSR | c.290C>A (p.Pro97His)
| |
| 3 | g.172448125G>A | CA355515172 | GHSR | c.289C>T (p.Pro97Ser)
| |
| 3 | g.172448125G>C | CA355515170 | GHSR | c.289C>G (p.Pro97Ala)
| |
| 3 | g.172448125G>T | CA355515168 | GHSR | c.289C>A (p.Pro97Thr)
| |
| 3 | g.172448126C>A | CA355515174 | GHSR | c.288G>T (p.Met96Ile)
| |
| 3 | g.172448126C>G | CA355515175 | GHSR | c.288G>C (p.Met96Ile)
| |
| 3 | g.172448126C>T | CA355515177 | GHSR | c.288G>A (p.Met96Ile)
| |
| 3 | g.172448127A>C | CA355515178 | GHSR | c.287T>G (p.Met96Arg)
| |
| 3 | g.172448127A>G | CA355515180 | GHSR | c.287T>C (p.Met96Thr)
| |
| 3 | g.172448127A>T | CA355515182 | GHSR | c.287T>A (p.Met96Lys)
| |
| 3 | g.172448128T>A | CA355515184 | GHSR | c.286A>T (p.Met96Leu)
| gnomAD v4 |
| 3 | g.172448128T>C | CA355515188 | GHSR | c.286A>G (p.Met96Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448128T>G | CA355515186 | GHSR | c.286A>C (p.Met96Leu)
| gnomAD v4 |
| 3 | g.172448128T= | CA1420511782 | GHSR | c.286A= (p.Met96=)
| |
| 3 | g.172448129G>A | CA436966557 | GHSR | c.285C>T (p.Cys95=)
| |
| 3 | g.172448129G>C | CA355515190 | GHSR | c.285C>G (p.Cys95Trp)
| |
| 3 | g.172448129G>T | CA355515191 | GHSR | c.285C>A (p.Cys95Ter)
| COSMIC COSMIC |
| 3 | g.172448129_172448130delinsGC | CA1420511783 | GHSR | c.284_285delinsGC (p.Cys95=)
| |
| 3 | g.172448130del | CA1420511784 | GHSR | c.284del (p.Cys95SerfsTer?)
| dbSNP |
| 3 | g.172448130C>A | CA355515193 | GHSR | c.284G>T (p.Cys95Phe)
| |
| 3 | g.172448130C>G | CA355515195 | GHSR | c.284G>C (p.Cys95Ser)
| |
| 3 | g.172448130C>T | CA355515197 | GHSR | c.284G>A (p.Cys95Tyr)
| |
| 3 | g.172448131A>C | CA355515200 | GHSR | c.283T>G (p.Cys95Gly)
| |
| 3 | g.172448131A>G | CA355515201 | GHSR | c.283T>C (p.Cys95Arg)
| gnomAD v4 |
| 3 | g.172448131A>T | CA355515205 | GHSR | c.283T>A (p.Cys95Ser)
| |
| 3 | g.172448132G>A | CA436965413 | GHSR | c.282C>T (p.Leu94=)
| gnomAD v4 |
| 3 | g.172448132G>C | CA436965415 | GHSR | c.282C>G (p.Leu94=)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448132G= | CA1420511785 | GHSR | c.282C= (p.Leu94=)
| |
| 3 | g.172448132G>T | CA436965416 | GHSR | c.282C>A (p.Leu94=)
| |
| 3 | g.172448133del | CA2668560150 | GHSR | c.281del (p.Leu94ProfsTer?)
| gnomAD v4 |
| 3 | g.172448133A>C | CA355515731 | GHSR | c.281T>G (p.Leu94Arg)
| |
| 3 | g.172448133A>G | CA355515732 | GHSR | c.281T>C (p.Leu94Pro)
| |
| 3 | g.172448133A>T | CA355515733 | GHSR | c.281T>A (p.Leu94His)
| |
| 3 | g.172448134G>A | CA355515734 | GHSR | c.280C>T (p.Leu94Phe)
| gnomAD v4 |
| 3 | g.172448134G>C | CA355515739 | GHSR | c.280C>G (p.Leu94Val)
| gnomAD v4 |
| 3 | g.172448134G>T | CA355515737 | GHSR | c.280C>A (p.Leu94Ile)
| |
| 3 | g.172448135G>A | CA436965420 | GHSR | c.279C>T (p.Phe93=)
| |
| 3 | g.172448135G>C | CA355515742 | GHSR | c.279C>G (p.Phe93Leu)
| |
| 3 | g.172448135G>T | CA355515749 | GHSR | c.279C>A (p.Phe93Leu)
| |
| 3 | g.172448136A= | CA1420511786 | GHSR | c.278T= (p.Phe93=)
| |
| 3 | g.172448136A>C | CA2706496 | GHSR | c.278T>G (p.Phe93Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448136A>G | CA355515754 | GHSR | c.278T>C (p.Phe93Ser)
| ClinVar |
| 3 | g.172448136A>T | CA355515756 | GHSR | c.278T>A (p.Phe93Tyr)
| |
| 3 | g.172448137A>C | CA355515759 | GHSR | c.277T>G (p.Phe93Val)
| |
| 3 | g.172448137A>G | CA355515761 | GHSR | c.277T>C (p.Phe93Leu)
| |
| 3 | g.172448137A>T | CA355515764 | GHSR | c.277T>A (p.Phe93Ile)
| |
| 3 | g.172448138G>A | CA436965421 | GHSR | c.276C>T (p.Ile92=)
| |
| 3 | g.172448138G>C | CA355515766 | GHSR | c.276C>G (p.Ile92Met)
| |
| 3 | g.172448138G>T | CA436965423 | GHSR | c.276C>A (p.Ile92=)
| |
| 3 | g.172448139A>C | CA355515770 | GHSR | c.275T>G (p.Ile92Ser)
| |
| 3 | g.172448139A>G | CA355515771 | GHSR | c.275T>C (p.Ile92Thr)
| |
| 3 | g.172448139A>T | CA355515773 | GHSR | c.275T>A (p.Ile92Asn)
| |
| 3 | g.172448140T>A | CA355515783 | GHSR | c.274A>T (p.Ile92Phe)
| |
| 3 | g.172448140T>C | CA355515779 | GHSR | c.274A>G (p.Ile92Val)
| dbSNP |
| 3 | g.172448140T>G | CA355515781 | GHSR | c.274A>C (p.Ile92Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448140T= | CA1420511787 | GHSR | c.274A= (p.Ile92=)
| |
| 3 | g.172448141G>A | CA436965425 | GHSR | c.273C>T (p.Leu91=)
| |
| 3 | g.172448141G>C | CA436965427 | GHSR | c.273C>G (p.Leu91=)
| |
| 3 | g.172448141G>T | CA436965429 | GHSR | c.273C>A (p.Leu91=)
| |
| 3 | g.172448142A>C | CA355515784 | GHSR | c.272T>G (p.Leu91Arg)
| |
| 3 | g.172448142A>G | CA355515786 | GHSR | c.272T>C (p.Leu91Pro)
| |
| 3 | g.172448142A>T | CA355515789 | GHSR | c.272T>A (p.Leu91His)
| |
| 3 | g.172448143G>A | CA2706497 | GHSR | c.271C>T (p.Leu91Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448143G>C | CA355515792 | GHSR | c.271C>G (p.Leu91Val)
| |
| 3 | g.172448143G= | CA1420511788 | GHSR | c.271C= (p.Leu91=)
| |
| 3 | g.172448143G>T | CA355515794 | GHSR | c.271C>A (p.Leu91Ile)
| |
| 3 | g.172448147_172448194del | CA2668560151 | GHSR | c.224_271del (p.Arg75_Leu90del)
| gnomAD v4 |
| 3 | g.172448144C>A | CA436965431 | GHSR | c.270G>T (p.Leu90=)
| COSMIC |
| 3 | g.172448144C>G | CA436965433 | GHSR | c.270G>C (p.Leu90=)
| |
| 3 | g.172448144C>T | CA436965435 | GHSR | c.270G>A (p.Leu90=)
| dbSNP |
| 3 | g.172448145A= | CA1420511789 | GHSR | c.269T= (p.Leu90=)
| |
| 3 | g.172448145A>C | CA355515796 | GHSR | c.269T>G (p.Leu90Arg)
| |
| 3 | g.172448145A>G | CA355515799 | GHSR | c.269T>C (p.Leu90Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448145A>T | CA355515802 | GHSR | c.269T>A (p.Leu90Gln)
| |
| 3 | g.172448146G>A | CA436965436 | GHSR | c.268C>T (p.Leu90=)
| |
| 3 | g.172448146G>C | CA355515805 | GHSR | c.268C>G (p.Leu90Val)
| |
| 3 | g.172448146G>T | CA355515806 | GHSR | c.268C>A (p.Leu90Met)
| gnomAD v4 |
| 3 | g.172448147A>C | CA355515812 | GHSR | c.267T>G (p.Asp89Glu)
| |
| 3 | g.172448147A>G | CA436965439 | GHSR | c.267T>C (p.Asp89=)
| |
| 3 | g.172448147A>T | CA355515813 | GHSR | c.267T>A (p.Asp89Glu)
| |
| 3 | g.172448148T>A | CA355515815 | GHSR | c.266A>T (p.Asp89Val)
| |
| 3 | g.172448148T>C | CA355515819 | GHSR | c.266A>G (p.Asp89Gly)
| |
| 3 | g.172448148T>G | CA355515817 | GHSR | c.266A>C (p.Asp89Ala)
| COSMIC COSMIC |
| 3 | g.172448149C>A | CA355515822 | GHSR | c.265G>T (p.Asp89Tyr)
| |
| 3 | g.172448149C>G | CA355515825 | GHSR | c.265G>C (p.Asp89His)
| |
| 3 | g.172448149C>T | CA355515826 | GHSR | c.265G>A (p.Asp89Asn)
| |
| 3 | g.172448150G>A | CA436965444 | GHSR | c.264C>T (p.Ser88=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448150G>C | CA436965443 | GHSR | c.264C>G (p.Ser88=)
| |
| 3 | g.172448150G= | CA1420511790 | GHSR | c.264C= (p.Ser88=)
| |
| 3 | g.172448150G>T | CA436965441 | GHSR | c.264C>A (p.Ser88=)
| |
