| 3 | g.172448147_172448194del | CA2668560151 | GHSR | c.224_271del (p.Arg75_Leu90del)
| gnomAD v4 |
| 3 | g.172448175A= | CA1420511800 | GHSR | c.239T= (p.Leu80=)
| |
| 3 | g.172448175A>C | CA355515962 | GHSR | c.239T>G (p.Leu80Arg)
| |
| 3 | g.172448175A>G | CA355515967 | GHSR | c.239T>C (p.Leu80Pro)
| |
| 3 | g.172448175A>T | CA355515964 | GHSR | c.239T>A (p.Leu80His)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448176G>A | CA355515970 | GHSR | c.238C>T (p.Leu80Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448176G>C | CA355515972 | GHSR | c.238C>G (p.Leu80Val)
| ClinVar |
| 3 | g.172448176G= | CA1420511801 | GHSR | c.238C= (p.Leu80=)
| |
| 3 | g.172448176G>T | CA355515974 | GHSR | c.238C>A (p.Leu80Ile)
| |
| 3 | g.172448177G>A | CA436965477 | GHSR | c.237C>T (p.Asn79=)
| |
| 3 | g.172448177G>C | CA355515978 | GHSR | c.237C>G (p.Asn79Lys)
| |
| 3 | g.172448177G>T | CA355515980 | GHSR | c.237C>A (p.Asn79Lys)
| |
| 3 | g.172448178T>A | CA355515982 | GHSR | c.236A>T (p.Asn79Ile)
| gnomAD v4 |
| 3 | g.172448178T>C | CA2706501 | GHSR | c.236A>G (p.Asn79Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448178T>G | CA355515983 | GHSR | c.236A>C (p.Asn79Thr)
| |
| 3 | g.172448178T= | CA1420511802 | GHSR | c.236A= (p.Asn79=)
| |
| 3 | g.172448179T>A | CA355515984 | GHSR | c.235A>T (p.Asn79Tyr)
| |
| 3 | g.172448179T>C | CA355515985 | GHSR | c.235A>G (p.Asn79Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448179T>G | CA355515986 | GHSR | c.235A>C (p.Asn79His)
| gnomAD v4 |
| 3 | g.172448179T= | CA1420511803 | GHSR | c.235A= (p.Asn79=)
| |
| 3 | g.172448180G>A | CA436965483 | GHSR | c.234C>T (p.Thr78=)
| |
| 3 | g.172448180G>C | CA436965482 | GHSR | c.234C>G (p.Thr78=)
| |
| 3 | g.172448180G>T | CA436965481 | GHSR | c.234C>A (p.Thr78=)
| |
| 3 | g.172448181G>A | CA355515991 | GHSR | c.233C>T (p.Thr78Ile)
| |
| 3 | g.172448181G>C | CA355515989 | GHSR | c.233C>G (p.Thr78Ser)
| |
| 3 | g.172448181G= | CA1420511804 | GHSR | c.233C= (p.Thr78=)
| |
| 3 | g.172448181G>T | CA87785972 | GHSR | c.233C>A (p.Thr78Asn)
| ClinVar dbSNP gnomAD v4 |
| 3 | g.172448182T>A | CA355515993 | GHSR | c.232A>T (p.Thr78Ser)
| |
| 3 | g.172448182T>C | CA355516000 | GHSR | c.232A>G (p.Thr78Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448182T>G | CA2706502 | GHSR | c.232A>C (p.Thr78Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448182T= | CA1420511805 | GHSR | c.232A= (p.Thr78=)
| |
| 3 | g.172448183G>A | CA436965484 | GHSR | c.231C>T (p.Thr77=)
| |
| 3 | g.172448183G>C | CA2706503 | GHSR | c.231C>G (p.Thr77=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448183G= | CA1420511806 | GHSR | c.231C= (p.Thr77=)
| |
| 3 | g.172448183G>T | CA436965485 | GHSR | c.231C>A (p.Thr77=)
| |
| 3 | g.172448184G>A | CA355516006 | GHSR | c.230C>T (p.Thr77Ile)
| |
| 3 | g.172448184G>C | CA355516008 | GHSR | c.230C>G (p.Thr77Ser)
| |
| 3 | g.172448184G>T | CA355516010 | GHSR | c.230C>A (p.Thr77Asn)
| |
| 3 | g.172448185T>A | CA355516012 | GHSR | c.229A>T (p.Thr77Ser)
| dbSNP |
| 3 | g.172448185T>C | CA355516013 | GHSR | c.229A>G (p.Thr77Ala)
| gnomAD v4 |
| 3 | g.172448185T>G | CA2706504 | GHSR | c.229A>C (p.Thr77Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448185T= | CA1420511807 | GHSR | c.229A= (p.Thr77=)
| |
| 3 | g.172448186G>A | CA2706505 | GHSR | c.228C>T (p.Thr76=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448186G>C | CA436965487 | GHSR | c.228C>G (p.Thr76=)
| |
| 3 | g.172448186G= | CA1420511808 | GHSR | c.228C= (p.Thr76=)
| |
| 3 | g.172448186G>T | CA436965488 | GHSR | c.228C>A (p.Thr76=)
| |
| 3 | g.172448187G>A | CA355516027 | GHSR | c.227C>T (p.Thr76Ile)
| gnomAD v4 |
| 3 | g.172448187G>C | CA355516025 | GHSR | c.227C>G (p.Thr76Ser)
| |
| 3 | g.172448187G>T | CA355516016 | GHSR | c.227C>A (p.Thr76Asn)
| |
| 3 | g.172448188T>A | CA355516030 | GHSR | c.226A>T (p.Thr76Ser)
| |
| 3 | g.172448188T>C | CA355516031 | GHSR | c.226A>G (p.Thr76Ala)
| |
| 3 | g.172448188T>G | CA355516037 | GHSR | c.226A>C (p.Thr76Pro)
| dbSNP |
| 3 | g.172448188T= | CA1420511809 | GHSR | c.226A= (p.Thr76=)
| |
| 3 | g.172448189G>A | CA436965492 | GHSR | c.225C>T (p.Arg75=)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448189G>C | CA436965493 | GHSR | c.225C>G (p.Arg75=)
| |
| 3 | g.172448189G= | CA1420511810 | GHSR | c.225C= (p.Arg75=)
| |
| 3 | g.172448189G>T | CA436965494 | GHSR | c.225C>A (p.Arg75=)
| |
| 3 | g.172448190C>A | CA355516039 | GHSR | c.224G>T (p.Arg75Leu)
| |
| 3 | g.172448190C>G | CA355516042 | GHSR | c.224G>C (p.Arg75Pro)
| |
| 3 | g.172448190C>T | CA355516044 | GHSR | c.224G>A (p.Arg75His)
| gnomAD v4 COSMIC COSMIC |
| 3 | g.172448191G>A | CA355516046 | GHSR | c.223C>T (p.Arg75Cys)
| dbSNP |
| 3 | g.172448191G>C | CA355516050 | GHSR | c.223C>G (p.Arg75Gly)
| |
| 3 | g.172448191G= | CA1420511811 | GHSR | c.223C= (p.Arg75=)
| |
| 3 | g.172448191G>T | CA355516051 | GHSR | c.223C>A (p.Arg75Ser)
| |
| 3 | g.172448192C>A | CA436965498 | GHSR | c.222G>T (p.Leu74=)
| |
| 3 | g.172448192C>G | CA436965499 | GHSR | c.222G>C (p.Leu74=)
| |
| 3 | g.172448192C>T | CA436965500 | GHSR | c.222G>A (p.Leu74=)
| |
| 3 | g.172448193A= | CA1420511812 | GHSR | c.221T= (p.Leu74=)
| |
| 3 | g.172448193A>C | CA355516057 | GHSR | c.221T>G (p.Leu74Arg)
| |
| 3 | g.172448193A>G | CA355516059 | GHSR | c.221T>C (p.Leu74Pro)
| |
| 3 | g.172448193A>T | CA355516061 | GHSR | c.221T>A (p.Leu74Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448194G>A | CA436965501 | GHSR | c.220C>T (p.Leu74=)
| |
| 3 | g.172448194G>C | CA355516063 | GHSR | c.220C>G (p.Leu74Val)
| |
| 3 | g.172448194G>T | CA355516066 | GHSR | c.220C>A (p.Leu74Met)
| |
| 3 | g.172448194_172448202delinsGCTCGCGGA | CA1420511813 | GHSR | c.212_220delinsTCCGCGAGC (p.Phe71=)
| |
| 3 | g.172448195C>A | CA87785997 | GHSR | c.219G>T (p.Glu73Asp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448195C= | CA1420511814 | GHSR | c.219G= (p.Glu73=)
| |
| 3 | g.172448195C>G | CA355516072 | GHSR | c.219G>C (p.Glu73Asp)
| |
| 3 | g.172448195C>T | CA436965502 | GHSR | c.219G>A (p.Glu73=)
| |
| 3 | g.172448195_172448202del | CA87785993 | GHSR | c.212_219del (p.Phe71SerfsTer?)
| dbSNP |
| 3 | g.172448196T>A | CA355516075 | GHSR | c.218A>T (p.Glu73Val)
| |
| 3 | g.172448196T>C | CA87786001 | GHSR | c.218A>G (p.Glu73Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448196T>G | CA355516081 | GHSR | c.218A>C (p.Glu73Ala)
| |
| 3 | g.172448196T= | CA1420511815 | GHSR | c.218A= (p.Glu73=)
| |
| 3 | g.172448197C>A | CA355516084 | GHSR | c.217G>T (p.Glu73Ter)
| |
| 3 | g.172448197C= | CA1420511816 | GHSR | c.217G= (p.Glu73=)
| |
| 3 | g.172448197C>G | CA87786003 | GHSR | c.217G>C (p.Glu73Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448197C>T | CA355516088 | GHSR | c.217G>A (p.Glu73Lys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448198G>A | CA436965504 | GHSR | c.216C>T (p.Arg72=)
| ClinVar |
| 3 | g.172448198G>C | CA436965505 | GHSR | c.216C>G (p.Arg72=)
| |
| 3 | g.172448198G= | CA1420511817 | GHSR | c.216C= (p.Arg72=)
| |
| 3 | g.172448198G>T | CA436965506 | GHSR | c.216C>A (p.Arg72=)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448199C>A | CA355516090 | GHSR | c.215G>T (p.Arg72Leu)
| |
| 3 | g.172448199C>G | CA355516092 | GHSR | c.215G>C (p.Arg72Pro)
| gnomAD v4 |
| 3 | g.172448199C>T | CA355516095 | GHSR | c.215G>A (p.Arg72His)
| |
| 3 | g.172448200G>A | CA355516097 | GHSR | c.214C>T (p.Arg72Cys)
| gnomAD v4 COSMIC COSMIC |
| 3 | g.172448200G>C | CA355516100 | GHSR | c.214C>G (p.Arg72Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448200G= | CA1420511818 | GHSR | c.214C= (p.Arg72=)
| |
| 3 | g.172448200G>T | CA355516101 | GHSR | c.214C>A (p.Arg72Ser)
| |
| 3 | g.172448201G>A | CA436965510 | GHSR | c.213C>T (p.Phe71=)
| |
| 3 | g.172448201G>C | CA355516106 | GHSR | c.213C>G (p.Phe71Leu)
| |
| 3 | g.172448201G>T | CA355516102 | GHSR | c.213C>A (p.Phe71Leu)
| |
| 3 | g.172448202A>C | CA355516109 | GHSR | c.212T>G (p.Phe71Cys)
| |
| 3 | g.172448202A>G | CA355516112 | GHSR | c.212T>C (p.Phe71Ser)
| gnomAD v4 |
| 3 | g.172448202A>T | CA355516111 | GHSR | c.212T>A (p.Phe71Tyr)
| COSMIC COSMIC |
| 3 | g.172448203A= | CA1420511819 | GHSR | c.211T= (p.Phe71=)
| |
| 3 | g.172448203A>C | CA355516113 | GHSR | c.211T>G (p.Phe71Val)
| gnomAD v4 |
| 3 | g.172448203A>G | CA355516114 | GHSR | c.211T>C (p.Phe71Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448203A>T | CA355516115 | GHSR | c.211T>A (p.Phe71Ile)
| |
| 3 | g.172448204del | CA2759408656 | GHSR | c.210del (p.Phe71SerfsTer?)
| |
| 3 | g.172448204G>A | CA2706506 | GHSR | c.210C>T (p.Arg70=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448204G>C | CA436965513 | GHSR | c.210C>G (p.Arg70=)
| |
| 3 | g.172448204G= | CA1420511820 | GHSR | c.210C= (p.Arg70=)
| |
| 3 | g.172448204G>T | CA436965512 | GHSR | c.210C>A (p.Arg70=)
| |
| 3 | g.172448205C>A | CA355516117 | GHSR | c.209G>T (p.Arg70Leu)
| ClinVar |
| 3 | g.172448205C= | CA1420511821 | GHSR | c.209G= (p.Arg70=)
| |
| 3 | g.172448205C>G | CA355516118 | GHSR | c.209G>C (p.Arg70Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448205C>T | CA355516119 | GHSR | c.209G>A (p.Arg70His)
| |
| 3 | g.172448205_172448206insTTCG | CA2759408657 | GHSR | c.208_209insCGAA (p.Arg70ProfsTer?)
| |
| 3 | g.172448206G>A | CA355516121 | GHSR | c.208C>T (p.Arg70Cys)
| gnomAD v4 |
| 3 | g.172448206G>C | CA355516123 | GHSR | c.208C>G (p.Arg70Gly)
| |
| 3 | g.172448206G>T | CA355516126 | GHSR | c.208C>A (p.Arg70Ser)
| |
| 3 | g.172448207C>A | CA436965514 | GHSR | c.207G>T (p.Ser69=)
| dbSNP COSMIC COSMIC |
| 3 | g.172448207C= | CA1420511822 | GHSR | c.207G= (p.Ser69=)
| |
| 3 | g.172448207C>G | CA436965515 | GHSR | c.207G>C (p.Ser69=)
| COSMIC COSMIC |
| 3 | g.172448207C>T | CA87786020 | GHSR | c.207G>A (p.Ser69=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448208G>A | CA355516129 | GHSR | c.206C>T (p.Ser69Leu)
| gnomAD v4 |
| 3 | g.172448208G>C | CA355516134 | GHSR | c.206C>G (p.Ser69Trp)
| gnomAD v4 |
| 3 | g.172448208G>T | CA355516135 | GHSR | c.206C>A (p.Ser69Ter)
| |
| 3 | g.172448209A>C | CA355516140 | GHSR | c.205T>G (p.Ser69Ala)
| |
| 3 | g.172448209A>G | CA355516153 | GHSR | c.205T>C (p.Ser69Pro)
| |
| 3 | g.172448209A>T | CA355516145 | GHSR | c.205T>A (p.Ser69Thr)
| |
| 3 | g.172448210_172448217dup | CA2668560152 | GHSR | c.198_205dup (p.Ser69TrpfsTer?)
| gnomAD v4 |
| 3 | g.172448210C>A | CA436965517 | GHSR | c.204G>T (p.Val68=)
| |
| 3 | g.172448210C= | CA1420511823 | GHSR | c.204G= (p.Val68=)
| |
| 3 | g.172448210C>G | CA436965520 | GHSR | c.204G>C (p.Val68=)
| |
| 3 | g.172448210C>T | CA2706507 | GHSR | c.204G>A (p.Val68=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448210_172448224del | CA2534897065 | GHSR | c.190_204del (p.Thr64_Val68del)
| |
| 3 | g.172448211del | CA2759408658 | GHSR | c.203del (p.Val68GlyfsTer?)
| |
| 3 | g.172448211A= | CA1420511824 | GHSR | c.203T= (p.Val68=)
| |
| 3 | g.172448211A>C | CA355516162 | GHSR | c.203T>G (p.Val68Gly)
| dbSNP |
| 3 | g.172448211A>G | CA87786034 | GHSR | c.203T>C (p.Val68Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448211A>T | CA355516164 | GHSR | c.203T>A (p.Val68Glu)
| |
| 3 | g.172448212C>A | CA355516166 | GHSR | c.202G>T (p.Val68Leu)
| |
| 3 | g.172448212C= | CA1420511825 | GHSR | c.202G= (p.Val68=)
| |
| 3 | g.172448212C>G | CA355516169 | GHSR | c.202G>C (p.Val68Leu)
| |
| 3 | g.172448212C>T | CA355516172 | GHSR | c.202G>A (p.Val68Met)
| dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448213C>A | CA436965522 | GHSR | c.201G>T (p.Val67=)
| |
| 3 | g.172448213C>G | CA436965523 | GHSR | c.201G>C (p.Val67=)
| |
| 3 | g.172448213C>T | CA436965524 | GHSR | c.201G>A (p.Val67=)
| gnomAD v4 |
| 3 | g.172448214A>C | CA355516176 | GHSR | c.200T>G (p.Val67Gly)
| |
| 3 | g.172448214A>G | CA355516178 | GHSR | c.200T>C (p.Val67Ala)
| |
| 3 | g.172448214A>T | CA355516181 | GHSR | c.200T>A (p.Val67Glu)
| |
| 3 | g.172448214_172448215insAA | CA2759408659 | GHSR | c.200_201insTT (p.Val68TrpfsTer?)
| |
| 3 | g.172448215C>A | CA355516187 | GHSR | c.199G>T (p.Val67Leu)
| |
| 3 | g.172448215C>G | CA355516185 | GHSR | c.199G>C (p.Val67Leu)
| |
| 3 | g.172448215C>T | CA355516183 | GHSR | c.199G>A (p.Val67Met)
| |
| 3 | g.172448216C>A | CA436965528 | GHSR | c.198G>T (p.Leu66=)
| |
| 3 | g.172448216C= | CA1420511826 | GHSR | c.198G= (p.Leu66=)
| |
| 3 | g.172448216C>G | CA436965530 | GHSR | c.198G>C (p.Leu66=)
| |
| 3 | g.172448216C>T | CA436965529 | GHSR | c.198G>A (p.Leu66=)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448217A>C | CA355516193 | GHSR | c.197T>G (p.Leu66Arg)
| |
| 3 | g.172448217A>G | CA355516189 | GHSR | c.197T>C (p.Leu66Pro)
| gnomAD v4 |
| 3 | g.172448217A>T | CA355516190 | GHSR | c.197T>A (p.Leu66Gln)
| |
| 3 | g.172448218G>A | CA436965531 | GHSR | c.196C>T (p.Leu66=)
| dbSNP |
| 3 | g.172448218G>C | CA355516195 | GHSR | c.196C>G (p.Leu66Val)
| |
| 3 | g.172448218G= | CA1420511827 | GHSR | c.196C= (p.Leu66=)
| |
| 3 | g.172448218G>T | CA355516198 | GHSR | c.196C>A (p.Leu66Met)
| |
| 3 | g.172448219C>A | CA355516202 | GHSR | c.195G>T (p.Met65Ile)
| |
| 3 | g.172448219C= | CA1420511828 | GHSR | c.195G= (p.Met65=)
| |
| 3 | g.172448219C>G | CA355516205 | GHSR | c.195G>C (p.Met65Ile)
| |
| 3 | g.172448219C>T | CA355516209 | GHSR | c.195G>A (p.Met65Ile)
| dbSNP gnomAD v4 |
| 3 | g.172448220A= | CA1420511829 | GHSR | c.194T= (p.Met65=)
| |
| 3 | g.172448220A>C | CA355516211 | GHSR | c.194T>G (p.Met65Arg)
| |
| 3 | g.172448220A>G | CA355516213 | GHSR | c.194T>C (p.Met65Thr)
| dbSNP gnomAD v4 |
| 3 | g.172448220A>T | CA355516215 | GHSR | c.194T>A (p.Met65Lys)
| |
| 3 | g.172448221T>A | CA355516219 | GHSR | c.193A>T (p.Met65Leu)
| |
| 3 | g.172448221T>C | CA2706508 | GHSR | c.193A>G (p.Met65Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448221T>G | CA355516222 | GHSR | c.193A>C (p.Met65Leu)
| |
| 3 | g.172448221T= | CA1420511830 | GHSR | c.193A= (p.Met65=)
| |
| 3 | g.172448222G>A | CA436965538 | GHSR | c.192C>T (p.Thr64=)
| |
| 3 | g.172448222G>C | CA87786038 | GHSR | c.192C>G (p.Thr64=)
| dbSNP |
| 3 | g.172448222G= | CA1420511831 | GHSR | c.192C= (p.Thr64=)
| |
| 3 | g.172448222G>T | CA436965539 | GHSR | c.192C>A (p.Thr64=)
| |
| 3 | g.172448223G>A | CA355516228 | GHSR | c.191C>T (p.Thr64Ile)
| |
| 3 | g.172448223G>C | CA355516224 | GHSR | c.191C>G (p.Thr64Ser)
| |
| 3 | g.172448223G>T | CA355516226 | GHSR | c.191C>A (p.Thr64Asn)
| |
| 3 | g.172448224T>A | CA2706509 | GHSR | c.190A>T (p.Thr64Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448224T>C | CA355516231 | GHSR | c.190A>G (p.Thr64Ala)
| gnomAD v4 |
| 3 | g.172448224T>G | CA355516234 | GHSR | c.190A>C (p.Thr64Pro)
| |
| 3 | g.172448224T= | CA1420511832 | GHSR | c.190A= (p.Thr64=)
| |
| 3 | g.172448225del | CA2580069086 | GHSR | c.189del (p.Thr64ProfsTer?)
| ClinVar gnomAD v4 |
| 3 | g.172448225G>A | CA436965545 | GHSR | c.189C>T (p.Leu63=)
| |
| 3 | g.172448225G>C | CA436965543 | GHSR | c.189C>G (p.Leu63=)
| |
| 3 | g.172448225G>T | CA436965544 | GHSR | c.189C>A (p.Leu63=)
| |
| 3 | g.172448226A>C | CA355516236 | GHSR | c.188T>G (p.Leu63Arg)
| |
| 3 | g.172448226A>G | CA355516238 | GHSR | c.188T>C (p.Leu63Pro)
| |
| 3 | g.172448226A>T | CA355516240 | GHSR | c.188T>A (p.Leu63His)
| |
| 3 | g.172448227G>A | CA355516242 | GHSR | c.187C>T (p.Leu63Phe)
| |
| 3 | g.172448227G>C | CA355516244 | GHSR | c.187C>G (p.Leu63Val)
| |
| 3 | g.172448227G>T | CA355516248 | GHSR | c.187C>A (p.Leu63Ile)
| |
| 3 | g.172448228C>A | CA436965546 | GHSR | c.186G>T (p.Leu62=)
| |
| 3 | g.172448228C= | CA1420511833 | GHSR | c.186G= (p.Leu62=)
| |
| 3 | g.172448228C>G | CA436965547 | GHSR | c.186G>C (p.Leu62=)
| |
| 3 | g.172448228C>T | CA2706510 | GHSR | c.186G>A (p.Leu62=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448229A>C | CA355516252 | GHSR | c.185T>G (p.Leu62Arg)
| |
| 3 | g.172448229A>G | CA355516256 | GHSR | c.185T>C (p.Leu62Pro)
| |
| 3 | g.172448229A>T | CA355516258 | GHSR | c.185T>A (p.Leu62Gln)
| |
| 3 | g.172448229_172448242del | CA2548479200 | GHSR | c.172_185del (p.Ile58AlafsTer?)
| |
| 3 | g.172448230G>A | CA2706511 | GHSR | c.184C>T (p.Leu62=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448230G>C | CA355516265 | GHSR | c.184C>G (p.Leu62Val)
| dbSNP |
| 3 | g.172448230G= | CA1420511834 | GHSR | c.184C= (p.Leu62=)
| |
| 3 | g.172448230G>T | CA355516262 | GHSR | c.184C>A (p.Leu62Met)
| |
| 3 | g.172448231G>A | CA87786062 | GHSR | c.183C>T (p.Asn61=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448231G>C | CA355516267 | GHSR | c.183C>G (p.Asn61Lys)
| COSMIC COSMIC |
| 3 | g.172448231G= | CA1420511835 | GHSR | c.183C= (p.Asn61=)
| |
| 3 | g.172448231G>T | CA355516268 | GHSR | c.183C>A (p.Asn61Lys)
| |
| 3 | g.172448232T>A | CA2706512 | GHSR | c.182A>T (p.Asn61Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448232T>C | CA355516270 | GHSR | c.182A>G (p.Asn61Ser)
| |
| 3 | g.172448232T>G | CA355516269 | GHSR | c.182A>C (p.Asn61Thr)
| |
| 3 | g.172448232T= | CA1420511836 | GHSR | c.182A= (p.Asn61=)
| |
| 3 | g.172448233T>A | CA355516271 | GHSR | c.181A>T (p.Asn61Tyr)
| |
| 3 | g.172448233T>C | CA355516275 | GHSR | c.181A>G (p.Asn61Asp)
| |
| 3 | g.172448233T>G | CA355516277 | GHSR | c.181A>C (p.Asn61His)
| |
| 3 | g.172448234G>A | CA2706513 | GHSR | c.180C>T (p.Gly60=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448234G>C | CA436965555 | GHSR | c.180C>G (p.Gly60=)
| |
| 3 | g.172448234G= | CA1420511837 | GHSR | c.180C= (p.Gly60=)
| |
| 3 | g.172448234G>T | CA436965556 | GHSR | c.180C>A (p.Gly60=)
| |
| 3 | g.172448235C>A | CA355516281 | GHSR | c.179G>T (p.Gly60Val)
| gnomAD v4 |
| 3 | g.172448235C>G | CA355516284 | GHSR | c.179G>C (p.Gly60Ala)
| |
| 3 | g.172448235C>T | CA355516285 | GHSR | c.179G>A (p.Gly60Asp)
| |
| 3 | g.172448236C>A | CA355516290 | GHSR | c.178G>T (p.Gly60Cys)
| gnomAD v4 |
| 3 | g.172448236C>G | CA355516293 | GHSR | c.178G>C (p.Gly60Arg)
| |
| 3 | g.172448236C>T | CA355516295 | GHSR | c.178G>A (p.Gly60Ser)
| |
| 3 | g.172448236_172448237insG | CA2556090756 | GHSR | c.177_178insC (p.Gly60ArgfsTer?)
| |
| 3 | g.172448237A>C | CA436965558 | GHSR | c.177T>G (p.Ala59=)
| |
| 3 | g.172448237A>G | CA436965559 | GHSR | c.177T>C (p.Ala59=)
| gnomAD v4 |
| 3 | g.172448237A>T | CA436965560 | GHSR | c.177T>A (p.Ala59=)
| |
| 3 | g.172448238G>A | CA2706514 | GHSR | c.176C>T (p.Ala59Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448238G>C | CA355516297 | GHSR | c.176C>G (p.Ala59Gly)
| |
| 3 | g.172448238G= | CA1420511838 | GHSR | c.176C= (p.Ala59=)
| |
| 3 | g.172448238G>T | CA355516299 | GHSR | c.176C>A (p.Ala59Asp)
| |
| 3 | g.172448239del | CA2571185836 | GHSR | c.175del (p.Ala59LeufsTer?)
| |
| 3 | g.172448239C>A | CA87786091 | GHSR | c.175G>T (p.Ala59Ser)
| dbSNP gnomAD v4 |
| 3 | g.172448239C= | CA1420511839 | GHSR | c.175G= (p.Ala59=)
| |
| 3 | g.172448239C>G | CA355516304 | GHSR | c.175G>C (p.Ala59Pro)
| |
| 3 | g.172448239C>T | CA355516307 | GHSR | c.175G>A (p.Ala59Thr)
| dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448240G>A | CA436965562 | GHSR | c.174C>T (p.Ile58=)
| dbSNP |
| 3 | g.172448240G>C | CA2706515 | GHSR | c.174C>G (p.Ile58Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448240G= | CA1420511840 | GHSR | c.174C= (p.Ile58=)
| |
| 3 | g.172448240G>T | CA436965565 | GHSR | c.174C>A (p.Ile58=)
| |
| 3 | g.172448241A>C | CA355516312 | GHSR | c.173T>G (p.Ile58Ser)
| |
| 3 | g.172448241A>G | CA355516315 | GHSR | c.173T>C (p.Ile58Thr)
| |
| 3 | g.172448241A>T | CA355516316 | GHSR | c.173T>A (p.Ile58Asn)
| ClinVar |
| 3 | g.172448242T>A | CA355516319 | GHSR | c.172A>T (p.Ile58Phe)
| |
| 3 | g.172448242T>C | CA2706516 | GHSR | c.172A>G (p.Ile58Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448242T>G | CA355516323 | GHSR | c.172A>C (p.Ile58Leu)
| |
| 3 | g.172448242T= | CA1420511841 | GHSR | c.172A= (p.Ile58=)
| |
| 3 | g.172448243G>A | CA2706517 | GHSR | c.171C>T (p.Gly57=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448243G>C | CA87786174 | GHSR | c.171C>G (p.Gly57=)
| dbSNP gnomAD v4 |
| 3 | g.172448243G= | CA1420511842 | GHSR | c.171C= (p.Gly57=)
| |
| 3 | g.172448243G>T | CA87786168 | GHSR | c.171C>A (p.Gly57=)
| dbSNP |
| 3 | g.172448244C>A | CA355516331 | GHSR | c.170G>T (p.Gly57Val)
| |
| 3 | g.172448244C>G | CA355516334 | GHSR | c.170G>C (p.Gly57Ala)
| |
| 3 | g.172448244C>T | CA355516337 | GHSR | c.170G>A (p.Gly57Asp)
| |
| 3 | g.172448245C>A | CA355516339 | GHSR | c.169G>T (p.Gly57Cys)
| |
| 3 | g.172448245C>G | CA355516341 | GHSR | c.169G>C (p.Gly57Arg)
| |
| 3 | g.172448245C>T | CA355516344 | GHSR | c.169G>A (p.Gly57Ser)
| |
| 3 | g.172448245_172448246insT | CA2519996993 | GHSR | c.168_169insA (p.Gly57ArgfsTer?)
| |
| 3 | g.172448246C>A | CA436965575 | GHSR | c.168G>T (p.Val56=)
| |
| 3 | g.172448246C= | CA1420511843 | GHSR | c.168G= (p.Val56=)
| |
| 3 | g.172448246C>G | CA436965574 | GHSR | c.168G>C (p.Val56=)
| dbSNP |
| 3 | g.172448246C>T | CA2706518 | GHSR | c.168G>A (p.Val56=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448246_172448247insCG | CA2503350086 | GHSR | c.167_168insCG (p.Ile58AlafsTer?)
| |
| 3 | g.172448247A>C | CA355516349 | GHSR | c.167T>G (p.Val56Gly)
| gnomAD v4 |
| 3 | g.172448247A>G | CA355516351 | GHSR | c.167T>C (p.Val56Ala)
| |
| 3 | g.172448247A>T | CA355516354 | GHSR | c.167T>A (p.Val56Glu)
| |
| 3 | g.172448248C>A | CA355516356 | GHSR | c.166G>T (p.Val56Leu)
| |
| 3 | g.172448248C= | CA1420511844 | GHSR | c.166G= (p.Val56=)
| |
| 3 | g.172448248C>G | CA355516359 | GHSR | c.166G>C (p.Val56Leu)
| |
| 3 | g.172448248C>T | CA87786181 | GHSR | c.166G>A (p.Val56Met)
| dbSNP |
| 3 | g.172448249C>A | CA436965581 | GHSR | c.165G>T (p.Val55=)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448249C= | CA1420511845 | GHSR | c.165G= (p.Val55=)
| |
| 3 | g.172448249C>G | CA436965582 | GHSR | c.165G>C (p.Val55=)
| |
| 3 | g.172448249C>T | CA436965583 | GHSR | c.165G>A (p.Val55=)
| |
| 3 | g.172448249_172448270del | CA2524707107 | GHSR | c.144_165del (p.Thr49TrpfsTer?)
| |
| 3 | g.172448250A= | CA1420511846 | GHSR | c.164T= (p.Val55=)
| |
| 3 | g.172448250A>C | CA355516360 | GHSR | c.164T>G (p.Val55Gly)
| |
| 3 | g.172448250A>G | CA2706519 | GHSR | c.164T>C (p.Val55Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448250A>T | CA355516363 | GHSR | c.164T>A (p.Val55Glu)
| |
| 3 | g.172448251C>A | CA355516367 | GHSR | c.163G>T (p.Val55Leu)
| |
| 3 | g.172448251C= | CA1420511848 | GHSR | c.163G= (p.Val55=)
| |
| 3 | g.172448251C>G | CA355516369 | GHSR | c.163G>C (p.Val55Leu)
| dbSNP |
| 3 | g.172448251C>T | CA355516371 | GHSR | c.163G>A (p.Val55Met)
| ClinVar dbSNP |
| 3 | g.172448251_172448254delinsCGAA | CA1420511847 | GHSR | c.160_163delinsTTCG (p.Phe54=)
| |
| 3 | g.172448252G>A | CA436965584 | GHSR | c.162C>T (p.Phe54=)
| dbSNP gnomAD v2 COSMIC COSMIC |
| 3 | g.172448252G>C | CA355516372 | GHSR | c.162C>G (p.Phe54Leu)
| |
| 3 | g.172448252G= | CA1420511849 | GHSR | c.162C= (p.Phe54=)
| |
| 3 | g.172448252G>T | CA355516374 | GHSR | c.162C>A (p.Phe54Leu)
| gnomAD v4 |
| 3 | g.172448254_172448256del | CA2706520 | GHSR | c.160_162del (p.Phe54del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448253A>C | CA355516378 | GHSR | c.161T>G (p.Phe54Cys)
| |
| 3 | g.172448253A>G | CA355516381 | GHSR | c.161T>C (p.Phe54Ser)
| |
| 3 | g.172448253A>T | CA355516383 | GHSR | c.161T>A (p.Phe54Tyr)
| |
| 3 | g.172448254A>C | CA355516385 | GHSR | c.160T>G (p.Phe54Val)
| |
| 3 | g.172448254A>G | CA355516386 | GHSR | c.160T>C (p.Phe54Leu)
| |
| 3 | g.172448254A>T | CA355516388 | GHSR | c.160T>A (p.Phe54Ile)
| |
| 3 | g.172448255G>A | CA436965586 | GHSR | c.159C>T (p.Leu53=)
| gnomAD v4 |
| 3 | g.172448255G>C | CA436965587 | GHSR | c.159C>G (p.Leu53=)
| gnomAD v4 |
| 3 | g.172448255G>T | CA436965588 | GHSR | c.159C>A (p.Leu53=)
| |
| 3 | g.172448256A= | CA1420511850 | GHSR | c.158T= (p.Leu53=)
| |
| 3 | g.172448256A>C | CA355516394 | GHSR | c.158T>G (p.Leu53Arg)
| |
| 3 | g.172448256A>G | CA355516395 | GHSR | c.158T>C (p.Leu53Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448256A>T | CA355516391 | GHSR | c.158T>A (p.Leu53His)
| gnomAD v4 |
| 3 | g.172448257G>A | CA355516401 | GHSR | c.157C>T (p.Leu53Phe)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448257G>C | CA355516397 | GHSR | c.157C>G (p.Leu53Val)
| |
| 3 | g.172448257G= | CA1420511851 | GHSR | c.157C= (p.Leu53=)
| |
| 3 | g.172448257G>T | CA355516399 | GHSR | c.157C>A (p.Leu53Ile)
| |
| 3 | g.172448258T>A | CA436965592 | GHSR | c.156A>T (p.Ala52=)
| |
| 3 | g.172448258T>C | CA436965590 | GHSR | c.156A>G (p.Ala52=)
| |
| 3 | g.172448258T>G | CA436965591 | GHSR | c.156A>C (p.Ala52=)
| |
| 3 | g.172448259G>A | CA87786194 | GHSR | c.155C>T (p.Ala52Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448259G>C | CA355516405 | GHSR | c.155C>G (p.Ala52Gly)
| |
| 3 | g.172448259G= | CA1420511852 | GHSR | c.155C= (p.Ala52=)
| |
| 3 | g.172448259G>T | CA355516407 | GHSR | c.155C>A (p.Ala52Glu)
| gnomAD v4 |
| 3 | g.172448260C>A | CA87786216 | GHSR | c.154G>T (p.Ala52Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448260C= | CA1420511853 | GHSR | c.154G= (p.Ala52=)
| |
| 3 | g.172448260C>G | CA355516411 | GHSR | c.154G>C (p.Ala52Pro)
| |
| 3 | g.172448260C>T | CA355516414 | GHSR | c.154G>A (p.Ala52Thr)
| gnomAD v4 |
| 3 | g.172448261C>A | CA436965593 | GHSR | c.153G>T (p.Val51=)
| |
| 3 | g.172448261C= | CA1420511854 | GHSR | c.153G= (p.Val51=)
| |
| 3 | g.172448261C>G | CA436965594 | GHSR | c.153G>C (p.Val51=)
| |
| 3 | g.172448261C>T | CA2706521 | GHSR | c.153G>A (p.Val51=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448262A>C | CA355516417 | GHSR | c.152T>G (p.Val51Gly)
| |
| 3 | g.172448262A>G | CA355516419 | GHSR | c.152T>C (p.Val51Ala)
| |
| 3 | g.172448262A>T | CA355516421 | GHSR | c.152T>A (p.Val51Glu)
| |
| 3 | g.172448263C>A | CA2706522 | GHSR | c.151G>T (p.Val51Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448263C= | CA1420511855 | GHSR | c.151G= (p.Val51=)
| |
| 3 | g.172448263C>G | CA355516426 | GHSR | c.151G>C (p.Val51Leu)
| COSMIC COSMIC |
| 3 | g.172448263C>T | CA355516423 | GHSR | c.151G>A (p.Val51Met)
| gnomAD v4 COSMIC COSMIC |
| 3 | g.172448264G>A | CA436965597 | GHSR | c.150C>T (p.Cys50=)
| gnomAD v4 COSMIC COSMIC |
| 3 | g.172448264G>C | CA355516430 | GHSR | c.150C>G (p.Cys50Trp)
| |
| 3 | g.172448264G= | CA1420511856 | GHSR | c.150C= (p.Cys50=)
| |
| 3 | g.172448264G>T | CA355516435 | GHSR | c.150C>A (p.Cys50Ter)
| ClinVar dbSNP gnomAD v2 |
| 3 | g.172448265C>A | CA355516439 | GHSR | c.149G>T (p.Cys50Phe)
| |
| 3 | g.172448265C>G | CA355516440 | GHSR | c.149G>C (p.Cys50Ser)
| |
| 3 | g.172448265C>T | CA355516443 | GHSR | c.149G>A (p.Cys50Tyr)
| gnomAD v4 |
| 3 | g.172448266A>C | CA355516450 | GHSR | c.148T>G (p.Cys50Gly)
| |
| 3 | g.172448266A>G | CA355516446 | GHSR | c.148T>C (p.Cys50Arg)
| |
| 3 | g.172448266A>T | CA355516448 | GHSR | c.148T>A (p.Cys50Ser)
| |
| 3 | g.172448267G>A | CA436965603 | GHSR | c.147C>T (p.Thr49=)
| gnomAD v4 |
| 3 | g.172448267G>C | CA436965605 | GHSR | c.147C>G (p.Thr49=)
| |
| 3 | g.172448267G>T | CA436965607 | GHSR | c.147C>A (p.Thr49=)
| |
| 3 | g.172448268G>A | CA2706523 | GHSR | c.146C>T (p.Thr49Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448268G>C | CA355516453 | GHSR | c.146C>G (p.Thr49Ser)
| |
| 3 | g.172448268G= | CA1420511857 | GHSR | c.146C= (p.Thr49=)
| |
| 3 | g.172448268G>T | CA355516455 | GHSR | c.146C>A (p.Thr49Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448269T>A | CA355516457 | GHSR | c.145A>T (p.Thr49Ser)
| |
| 3 | g.172448269T>C | CA355516458 | GHSR | c.145A>G (p.Thr49Ala)
| |
| 3 | g.172448269T>G | CA355516459 | GHSR | c.145A>C (p.Thr49Pro)
| |
| 3 | g.172448270G>A | CA2706524 | GHSR | c.144C>T (p.Ala48=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448270G>C | CA436965610 | GHSR | c.144C>G (p.Ala48=)
| |
| 3 | g.172448270G= | CA1420511858 | GHSR | c.144C= (p.Ala48=)
| |
| 3 | g.172448270G>T | CA436965611 | GHSR | c.144C>A (p.Ala48=)
| |
| 3 | g.172448270_172448283del | CA645535948 | GHSR | c.131_144del (p.Ala44AspfsTer?)
| COSMIC COSMIC |
| 3 | g.172448271G>A | CA355516469 | GHSR | c.143C>T (p.Ala48Val)
| |
| 3 | g.172448271G>C | CA355516464 | GHSR | c.143C>G (p.Ala48Gly)
| |
| 3 | g.172448271G= | CA1420511859 | GHSR | c.143C= (p.Ala48=)
| |
| 3 | g.172448271G>T | CA355516466 | GHSR | c.143C>A (p.Ala48Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 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)
| |
