Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.142741208_142741215delinsCGGGGTCG | CA1825428999 | SLURP1 | c.240_247delinsCGACCCCG (p.Thr80=) | |
8 | g.142741208_142741218delinsCGGGGTCGGTG | CA1825429000 | SLURP1 | c.237_247delinsCACCGACCCCG (p.Ala79=) | |
8 | g.142741209G>A | CA4904044 | SLURP1 | c.246C>T (p.Pro82=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.142741209G>C | CA463303776 | SLURP1 | c.246C>G (p.Pro82=) | |
8 | g.142741209G= | CA1825429002 | SLURP1 | c.246C= (p.Pro82=) | |
8 | g.142741209G>T | CA463303772 | SLURP1 | c.246C>A (p.Pro82=) | gnomAD v4 |
8 | g.142741209_142741215delinsCT | CA16042710 | SLURP1 | c.240_246delinsAG (p.Asp81GlyfsTer?) | ClinVar dbSNP |
8 | g.142741210_142741219del | CA1825429001 | SLURP1 | c.237_246del (p.Asp81AlafsTer7) | dbSNP |
8 | g.142741210G>A | CA372386043 | SLURP1 | c.245C>T (p.Pro82Leu) | |
8 | g.142741210G>C | CA372386045 | SLURP1 | c.245C>G (p.Pro82Arg) | |
8 | g.142741210G= | CA1825429003 | SLURP1 | c.245C= (p.Pro82=) | |
8 | g.142741210G>T | CA372386050 | SLURP1 | c.245C>A (p.Pro82His) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.142741211G>A | CA372386053 | SLURP1 | c.244C>T (p.Pro82Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.142741211G>C | CA372386056 | SLURP1 | c.244C>G (p.Pro82Ala) | |
8 | g.142741211G= | CA1825429004 | SLURP1 | c.244C= (p.Pro82=) | |
8 | g.142741211G>T | CA372386059 | SLURP1 | c.244C>A (p.Pro82Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.142741212G>A | CA463303784 | SLURP1 | c.243C>T (p.Asp81=) | |
8 | g.142741212G>C | CA372386061 | SLURP1 | c.243C>G (p.Asp81Glu) | |
8 | g.142741212G>T | CA372386064 | SLURP1 | c.243C>A (p.Asp81Glu) | ClinVar gnomAD v4 |
8 | g.142741213T>A | CA372386065 | SLURP1 | c.242A>T (p.Asp81Val) | COSMIC |
8 | g.142741213T>C | CA187457946 | SLURP1 | c.242A>G (p.Asp81Gly) | dbSNP gnomAD v4 |
8 | g.142741213T>G | CA372386066 | SLURP1 | c.242A>C (p.Asp81Ala) | dbSNP |
8 | g.142741213T= | CA1825429005 | SLURP1 | c.242A= (p.Asp81=) | |
8 | g.142741214C>A | CA372386067 | SLURP1 | c.241G>T (p.Asp81Tyr) | |
8 | g.142741214C= | CA1825429006 | SLURP1 | c.241G= (p.Asp81=) | |
8 | g.142741214C>G | CA372386068 | SLURP1 | c.241G>C (p.Asp81His) | dbSNP |
8 | g.142741214C>T | CA4904045 | SLURP1 | c.241G>A (p.Asp81Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.142741215G>A | CA4904046 | SLURP1 | c.240C>T (p.Thr80=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.142741215G>C | CA463303797 | SLURP1 | c.240C>G (p.Thr80=) | |
8 | g.142741215G= | CA1825429007 | SLURP1 | c.240C= (p.Thr80=) | |
8 | g.142741215G>T | CA463303795 | SLURP1 | c.240C>A (p.Thr80=) | gnomAD v4 |
8 | g.142741216G>A | CA372386078 | SLURP1 | c.239C>T (p.Thr80Ile) | |
8 | g.142741216G>C | CA372386081 | SLURP1 | c.239C>G (p.Thr80Ser) | |
8 | g.142741216G= | CA1825429008 | SLURP1 | c.239C= (p.Thr80=) | |
8 | g.142741216G>T | CA372386082 | SLURP1 | c.239C>A (p.Thr80Asn) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.142741217T>A | CA372386083 | SLURP1 | c.238A>T (p.Thr80Ser) | |
8 | g.142741217T>C | CA372386084 | SLURP1 | c.238A>G (p.Thr80Ala) | |
8 | g.142741217T>G | CA372386085 | SLURP1 | c.238A>C (p.Thr80Pro) | |
8 | g.142741218G>A | CA463303810 | SLURP1 | c.237C>T (p.Ala79=) | |
8 | g.142741218G>C | CA463303808 | SLURP1 | c.237C>G (p.Ala79=) | |
8 | g.142741218G>T | CA463303806 | SLURP1 | c.237C>A (p.Ala79=) | |
8 | g.142741218_142741219insCCGTCTTTGTGTGGGTGTTCGGCTTCTCGGGTGTATTGGTATTCGTTGATGGCGGTGATGGGGGTGGTGCGGAGTTTTCCGGTGAGTCCTCGGTAGGTGATGGTGTTGTCGGGGTTGAACCTGAGGTATTT | CA2572737621 | SLURP1 | c.236_237insAAATACCTCAGGTTCAACCCCGACAACACCATCACCTACCGAGGACTCACCGGAAAACTCCGCACCACCCCCATCACCGCCATCAACGAATACCAATACACCCGAGAAGCCGAACACCCACACAAAGACGG (p.Thr80AsnfsTer55) | |
8 | g.142741219G>A | CA372386088 | SLURP1 | c.236C>T (p.Ala79Val) | |
8 | g.142741219G>C | CA372386091 | SLURP1 | c.236C>G (p.Ala79Gly) | |
8 | g.142741219G>T | CA372386087 | SLURP1 | c.236C>A (p.Ala79Asp) | gnomAD v4 |
8 | g.142741220C>A | CA372386105 | SLURP1 | c.235G>T (p.Ala79Ser) | |
8 | g.142741220C>G | CA372386092 | SLURP1 | c.235G>C (p.Ala79Pro) | |
8 | g.142741220C>T | CA372386104 | SLURP1 | c.235G>A (p.Ala79Thr) | gnomAD v4 |
8 | g.142741221del | CA2688857574 | SLURP1 | c.235del (p.Ala79ProfsTer12) | gnomAD v4 |
8 | g.142741221C>A | CA463303819 | SLURP1 | c.234G>T (p.Val78=) |