Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.68231417_68231449dup | CA5523349 | ATOH7 | c.230_262dup (p.Ser87_Tyr88insSerLysTyrGluThrLeuGlnMetAlaLeuSer) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.68231440_68231446delinsCGTACTT | CA1917241530 | ATOH7 | c.232_238delinsAAGTACG (p.Lys78=) | |
10 | g.68231442_68231447del | CA667812673 | ATOH7 | c.232_237del (p.Lys78_Tyr79del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.68231442T>A | CA376835929 | ATOH7 | c.236A>T (p.Tyr79Phe) | |
10 | g.68231442T>C | CA376835928 | ATOH7 | c.236A>G (p.Tyr79Cys) | gnomAD v4 |
10 | g.68231442T>G | CA376835927 | ATOH7 | c.236A>C (p.Tyr79Ser) | |
10 | g.68231443A>C | CA376835931 | ATOH7 | c.235T>G (p.Tyr79Asp) | |
10 | g.68231443A>G | CA376835933 | ATOH7 | c.235T>C (p.Tyr79His) | gnomAD v4 |
10 | g.68231443A>T | CA376835934 | ATOH7 | c.235T>A (p.Tyr79Asn) | |
10 | g.68231444C>A | CA376835935 | ATOH7 | c.234G>T (p.Lys78Asn) | |
10 | g.68231444C= | CA1917241532 | ATOH7 | c.234G= (p.Lys78=) | |
10 | g.68231444C>G | CA5523354 | ATOH7 | c.234G>C (p.Lys78Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68231444C>T | CA5523353 | ATOH7 | c.234G>A (p.Lys78=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68231445T>A | CA376835939 | ATOH7 | c.233A>T (p.Lys78Met) | |
10 | g.68231445T>C | CA376835941 | ATOH7 | c.233A>G (p.Lys78Arg) | gnomAD v4 |
10 | g.68231445T>G | CA376835943 | ATOH7 | c.233A>C (p.Lys78Thr) | |
10 | g.68231446T>A | CA376835945 | ATOH7 | c.232A>T (p.Lys78Ter) | |
10 | g.68231446T>C | CA376835951 | ATOH7 | c.232A>G (p.Lys78Glu) | |
10 | g.68231446T>G | CA376835954 | ATOH7 | c.232A>C (p.Lys78Gln) | |
10 | g.68231447G>A | CA5523355 | ATOH7 | c.231C>T (p.Ser77=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68231447G>C | CA469826964 | ATOH7 | c.231C>G (p.Ser77=) | |
10 | g.68231447G= | CA1917241533 | ATOH7 | c.231C= (p.Ser77=) | |
10 | g.68231447G>T | CA469826965 | ATOH7 | c.231C>A (p.Ser77=) | |
10 | g.68231448dup | CA2609375065 | ATOH7 | c.231dup (p.Lys78GlnfsTer?) | gnomAD v4 |
10 | g.68231448G>A | CA376836554 | ATOH7 | c.230C>T (p.Ser77Phe) | gnomAD v4 |
10 | g.68231448G>C | CA376836559 | ATOH7 | c.230C>G (p.Ser77Cys) | dbSNP |
10 | g.68231448G= | CA1917241534 | ATOH7 | c.230C= (p.Ser77=) | |
10 | g.68231448G>T | CA5523356 | ATOH7 | c.230C>A (p.Ser77Tyr) | dbSNP ExAC gnomAD v2 |
10 | g.68231449A= | CA1917241535 | ATOH7 | c.229T= (p.Ser77=) | |
10 | g.68231449A>C | CA376836562 | ATOH7 | c.229T>G (p.Ser77Ala) | |
10 | g.68231449A>G | CA376836563 | ATOH7 | c.229T>C (p.Ser77Pro) | |
10 | g.68231449A>T | CA208209608 | ATOH7 | c.229T>A (p.Ser77Thr) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68231450C>A | CA469800638 | ATOH7 | c.228G>T (p.Leu76=) | |
10 | g.68231450C= | CA1917241536 | ATOH7 | c.228G= (p.Leu76=) | |
10 | g.68231450C>G | CA469800639 | ATOH7 | c.228G>C (p.Leu76=) | |
10 | g.68231450C>T | CA469800636 | ATOH7 | c.228G>A (p.Leu76=) | dbSNP gnomAD v4 |
10 | g.68231451A>C | CA376836564 | ATOH7 | c.227T>G (p.Leu76Arg) | |
10 | g.68231451A>G | CA376836565 | ATOH7 | c.227T>C (p.Leu76Pro) | |
10 | g.68231451A>T | CA376836566 | ATOH7 | c.227T>A (p.Leu76Gln) | |
10 | g.68231452G>A | CA469800642 | ATOH7 | c.226C>T (p.Leu76=) | gnomAD v4 |
10 | g.68231452G>C | CA376836568 | ATOH7 | c.226C>G (p.Leu76Val) | |
10 | g.68231452G>T | CA376836572 | ATOH7 | c.226C>A (p.Leu76Met) | |
10 | g.68231453C>A | CA376836577 | ATOH7 | c.225G>T (p.Lys75Asn) | |
10 | g.68231453C= | CA1917241537 | ATOH7 | c.225G= (p.Lys75=) | |
10 | g.68231453C>G | CA208209615 | ATOH7 | c.225G>C (p.Lys75Asn) | dbSNP gnomAD v4 |
10 | g.68231453C>T | CA5523357 | ATOH7 | c.225G>A (p.Lys75=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.68231454T>A | CA376836582 | ATOH7 | c.224A>T (p.Lys75Met) | |
10 | g.68231454T>C | CA376836586 | ATOH7 | c.224A>G (p.Lys75Arg) | |
10 | g.68231454T>G | CA376836589 | ATOH7 | c.224A>C (p.Lys75Thr) | |
10 | g.68231458del | CA2609375066 | ATOH7 | c.224del (p.Lys75SerfsTer12) | gnomAD v4 |