Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.37422628_37422667del | CA2689952113 | GRHPR | c.179_218del (p.His60LeufsTer?) n.194_233del | gnomAD v4 |
9 | g.37422649_37422650del | CA192885671 | GRHPR | c.200_201del (p.Ala67AspfsTer?) n.215_216del | dbSNP |
9 | g.37422647C>A | CA192885678 | GRHPR | c.198C>A (p.Arg66=) n.213C>A | dbSNP gnomAD v4 |
9 | g.37422647C= | CA1846862653 | GRHPR | c.198C= (p.Arg66=) n.213C= | |
9 | g.37422647C>G | CA2689952147 | GRHPR | c.198C>G (p.Arg66=) n.213C>G | gnomAD v4 |
9 | g.37422647C>T | CA2689952148 | GRHPR | c.198C>T (p.Arg66=) n.213C>T | gnomAD v4 |
9 | g.37422648G>A | CA192885681 | GRHPR | c.199G>A (p.Ala67Thr) n.214G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.37422648G>C | CA2689952149 | GRHPR | c.199G>C (p.Ala67Pro) n.214G>C | gnomAD v4 |
9 | g.37422648G= | CA1846862654 | GRHPR | c.199G= (p.Ala67=) n.214G= | |
9 | g.37422648G>T | CA2689952150 | GRHPR | c.199G>T (p.Ala67Ser) n.214G>T | gnomAD v4 |
9 | g.37422648_37422649delinsGC | CA1846862656 | GRHPR | c.199_200delinsGC (p.Ala67=) n.214_215delinsGC | |
9 | g.37422649del | CA587803169 | GRHPR | c.200del (p.Ala67GlyfsTer?) n.215del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.37422649C>A | CA2689952152 | GRHPR | c.200C>A (p.Ala67Glu) n.215C>A | gnomAD v4 |
9 | g.37422649C>T | CA2689952151 | GRHPR | c.200C>T (p.Ala67Val) n.215C>T | gnomAD v4 |
9 | g.37422650G>A | CA2689952153 | GRHPR | c.201G>A (p.Ala67=) n.216G>A | gnomAD v4 |
9 | g.37422650G>C | CA2689952154 | GRHPR | c.201G>C (p.Ala67=) n.216G>C | gnomAD v4 |
9 | g.37422650G>T | CA2689952155 | GRHPR | c.201G>T (p.Ala67=) n.216G>T | gnomAD v4 |
9 | g.37422650_37422651delinsGA | CA1846862657 | GRHPR | c.201_202delinsGA (p.Ala67=) n.216_217delinsGA | |
9 | g.37422651del | CA587803171 | GRHPR | c.202del (p.Thr68ArgfsTer?) n.217del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.37422651A= | CA1846862661 | GRHPR | c.202A= (p.Thr68=) n.217A= | |
9 | g.37422651A>C | CA2689952156 | GRHPR | c.202A>C (p.Thr68Pro) n.217A>C | gnomAD v4 |
9 | g.37422651A>G | CA192885685 | GRHPR | c.202A>G (p.Thr68Ala) n.217A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.37422651A>T | CA465003639 | GRHPR | c.202A>T (p.Thr68Ser) n.217A>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.37422652C>A | CA2689952157 | GRHPR | c.203C>A (p.Thr68Lys) n.218C>A | gnomAD v4 |
9 | g.37422652C>T | CA2579340441 | GRHPR | c.203C>T (p.Thr68Met) n.218C>T | gnomAD v4 |
9 | g.37422653_37422655dup | CA192885690 | GRHPR | c.204_206dup (p.Ser69_Leu70insSer) n.219_221dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.37422653G>A | CA863755148 | GRHPR | c.204G>A (p.Thr68=) n.219G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.37422653G= | CA1846862665 | GRHPR | c.204G= (p.Thr68=) n.219G= | |
9 | g.37422653G>T | CA2689952158 | GRHPR | c.204G>T (p.Thr68=) n.219G>T | gnomAD v4 |
9 | g.37422654T>A | CA192885694 | GRHPR | c.205T>A (p.Ser69Thr) n.220T>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.37422654T>C | CA192885695 | GRHPR | c.205T>C (p.Ser69Pro) n.220T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.37422654T>G | CA2689952159 | GRHPR | c.205T>G (p.Ser69Ala) n.220T>G | gnomAD v4 |
9 | g.37422654T= | CA1846862669 | GRHPR | c.205T= (p.Ser69=) n.220T= | |
9 | g.37422655C>A | CA2689952160 | GRHPR | c.206C>A (p.Ser69Tyr) n.221C>A | gnomAD v4 |
9 | g.37422655C= | CA1846862672 | GRHPR | c.206C= (p.Ser69=) n.221C= | |
9 | g.37422655C>T | CA192885696 | GRHPR | c.206C>T (p.Ser69Phe) n.221C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.37422656T>C | CA2689952161 | GRHPR | c.207T>C (p.Ser69=) n.222T>C | gnomAD v4 |
9 | g.37422657del | CA2689952162 | GRHPR | c.208del (p.Leu70SerfsTer?) n.223del | gnomAD v4 |
9 | g.37422657C>A | CA2689952163 | GRHPR | c.208C>A (p.Leu70Ile) n.223C>A | gnomAD v4 |
9 | g.37422657C= | CA1846862675 | GRHPR | c.208C= (p.Leu70=) n.223C= | |
9 | g.37422657C>T | CA863755155 | GRHPR | c.208C>T (p.Leu70Phe) n.223C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.37422658T>A | CA2689952164 | GRHPR | c.209T>A (p.Leu70His) n.224T>A | gnomAD v4 |
9 | g.37422659C>A | CA2580873030 | GRHPR | c.210C>A (p.Leu70=) n.225C>A | gnomAD v4 |
9 | g.37422659C= | CA1846862677 | GRHPR | c.210C= (p.Leu70=) n.225C= | |
9 | g.37422659C>G | CA2580873029 | GRHPR | c.210C>G (p.Leu70=) n.225C>G | |
9 | g.37422659C>T | CA12955234 | GRHPR | c.210C>T (p.Leu70=) n.225C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.37422659_37422661del | CA2689952165 | GRHPR | c.210_212del (p.Pro71del) n.225_227del | gnomAD v4 |
9 | g.37422666_37422685del | CA2689952166 | GRHPR | c.217_236del (p.Thr73ArgfsTer23) n.232_251del | gnomAD v4 |
9 | g.37422659_37422660insT | CA652987130 | GRHPR | c.210_211insT (p.Pro71SerfsTer?) n.225_226insT | |
9 | g.37422660C>A | CA2689952167 | GRHPR | c.211C>A (p.Pro71Thr) n.226C>A | gnomAD v4 |