Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
X | g.71223754_71223770del | CA2695234555 | GJB1 | c.47_63del (p.His16ProfsTer25) | |
X | g.71223756_71223759delinsTCTA | CA2436388110 | GJB1 | c.49_52delinsTCTA (p.Ser17=) | |
X | g.71223757C>A | CA413499560 | GJB1 | c.50C>A (p.Ser17Tyr) | ClinVar dbSNP |
X | g.71223757C= | CA2436388111 | GJB1 | c.50C= (p.Ser17=) | |
X | g.71223757C>G | CA413499562 | GJB1 | c.50C>G (p.Ser17Cys) | ClinVar dbSNP |
X | g.71223757C>T | CA413499563 | GJB1 | c.50C>T (p.Ser17Phe) | |
X | g.71223759_71223761del | CA916081269 | GJB1 | c.52_54del (p.Thr18del) | ClinVar dbSNP |
X | g.71223758T>A | CA516718577 | GJB1 | c.51T>A (p.Ser17=) | |
X | g.71223758T>C | CA516718580 | GJB1 | c.51T>C (p.Ser17=) | |
X | g.71223758T>G | CA516718582 | GJB1 | c.51T>G (p.Ser17=) | |
X | g.71223759A= | CA2436388112 | GJB1 | c.52A= (p.Thr18=) | |
X | g.71223759A>C | CA413500635 | GJB1 | c.52A>C (p.Thr18Pro) | |
X | g.71223759A>G | CA413500626 | GJB1 | c.52A>G (p.Thr18Ala) | ClinVar dbSNP |
X | g.71223759A>T | CA413500633 | GJB1 | c.52A>T (p.Thr18Ser) | ClinVar |
X | g.71223760C>A | CA413500637 | GJB1 | c.53C>A (p.Thr18Asn) | |
X | g.71223760C= | CA2436388113 | GJB1 | c.53C= (p.Thr18=) | |
X | g.71223760C>G | CA413500639 | GJB1 | c.53C>G (p.Thr18Ser) | ClinVar dbSNP |
X | g.71223760C>T | CA413500641 | GJB1 | c.53C>T (p.Thr18Ile) | |
X | g.71223761T>A | CA516820999 | GJB1 | c.54T>A (p.Thr18=) | |
X | g.71223761T>C | CA516821003 | GJB1 | c.54T>C (p.Thr18=) | ClinVar gnomAD v4 |
X | g.71223761T>G | CA516821004 | GJB1 | c.54T>G (p.Thr18=) | |
X | g.71223762G>A | CA413500644 | GJB1 | c.55G>A (p.Ala19Thr) | |
X | g.71223762G>C | CA413500647 | GJB1 | c.55G>C (p.Ala19Pro) | |
X | g.71223762G>T | CA413500650 | GJB1 | c.55G>T (p.Ala19Ser) | |
X | g.71223763C>A | CA413500655 | GJB1 | c.56C>A (p.Ala19Asp) | ClinVar gnomAD v4 |
X | g.71223763C>G | CA413500658 | GJB1 | c.56C>G (p.Ala19Gly) | |
X | g.71223763C>T | CA413500652 | GJB1 | c.56C>T (p.Ala19Val) | |
X | g.71223764dup | CA2695234556 | GJB1 | c.57dup (p.Ile20HisfsTer27) | |
X | g.71223764C>A | CA516821014 | GJB1 | c.57C>A (p.Ala19=) | |
X | g.71223764C= | CA2436388114 | GJB1 | c.57C= (p.Ala19=) | |
X | g.71223764C>G | CA516821015 | GJB1 | c.57C>G (p.Ala19=) | |
X | g.71223764C>T | CA10445275 | GJB1 | c.57C>T (p.Ala19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.71223765A= | CA2436388115 | GJB1 | c.58A= (p.Ile20=) | |
X | g.71223765A>C | CA413500666 | GJB1 | c.58A>C (p.Ile20Leu) | |
X | g.71223765A>G | CA413500671 | GJB1 | c.58A>G (p.Ile20Val) | ClinVar dbSNP |
X | g.71223765A>T | CA413500669 | GJB1 | c.58A>T (p.Ile20Phe) | ClinVar |
X | g.71223766T>A | CA413500674 | GJB1 | c.59T>A (p.Ile20Asn) | ClinVar dbSNP |
X | g.71223766T>C | CA413500677 | GJB1 | c.59T>C (p.Ile20Thr) | ClinVar dbSNP |
X | g.71223766T>G | CA413500679 | GJB1 | c.59T>G (p.Ile20Ser) | ClinVar dbSNP |
X | g.71223766T= | CA2436388116 | GJB1 | c.59T= (p.Ile20=) | |
X | g.71223767del | CA2579640065 | GJB1 | c.60del (p.Ile20MetfsTer?) | |
X | g.71223766_71223768delinsATA | CA2695234557 | GJB1 | c.59_61delinsATA (p.Ile20_Gly21delinsAsnSer) | |
X | g.71223767T>A | CA516821025 | GJB1 | c.60T>A (p.Ile20=) | |
X | g.71223767T>C | CA516821024 | GJB1 | c.60T>C (p.Ile20=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.71223767T>G | CA413500682 | GJB1 | c.60T>G (p.Ile20Met) | |
X | g.71223767T= | CA2436388118 | GJB1 | c.60T= (p.Ile20=) | |
X | g.71223767_71223768delinsTG | CA2436388117 | GJB1 | c.60_61delinsTG (p.Ile20=) | |
X | g.71223768G>A | CA413500684 | GJB1 | c.61G>A (p.Gly21Ser) | ClinVar dbSNP |
X | g.71223768G>C | CA413500686 | GJB1 | c.61G>C (p.Gly21Arg) |