Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.116616948C>A | CA365391879 | RSPH4A | c.325C>A (p.Gln109Lys) n.2976C>A | |
6 | g.116616948C= | CA1657314570 | RSPH4A | c.325C= (p.Gln109=) n.2976C= | |
6 | g.116616948C>G | CA365391881 | RSPH4A | c.325C>G (p.Gln109Glu) n.2976C>G | |
6 | g.116616948C>T | CA339819 | RSPH4A | c.325C>T (p.Gln109Ter) n.2976C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116616949A>C | CA365391900 | RSPH4A | c.326A>C (p.Gln109Pro) n.2977A>C | |
6 | g.116616949A>G | CA365391901 | RSPH4A | c.326A>G (p.Gln109Arg) n.2977A>G | |
6 | g.116616949A>T | CA365391902 | RSPH4A | c.326A>T (p.Gln109Leu) n.2977A>T | |
6 | g.116616950G>A | CA451903816 | RSPH4A | c.327G>A (p.Gln109=) n.2978G>A | gnomAD v4 |
6 | g.116616950G>C | CA365391904 | RSPH4A | c.327G>C (p.Gln109His) n.2978G>C | |
6 | g.116616950G>T | CA365391903 | RSPH4A | c.327G>T (p.Gln109His) n.2978G>T | |
6 | g.116616951T>A | CA365391909 | RSPH4A | c.328T>A (p.Ser110Thr) n.2979T>A | |
6 | g.116616951T>C | CA365391910 | RSPH4A | c.328T>C (p.Ser110Pro) n.2979T>C | |
6 | g.116616951T>G | CA365391911 | RSPH4A | c.328T>G (p.Ser110Ala) n.2979T>G | |
6 | g.116616952C>A | CA365391916 | RSPH4A | c.329C>A (p.Ser110Ter) n.2980C>A | |
6 | g.116616952C>G | CA365391917 | RSPH4A | c.329C>G (p.Ser110Trp) n.2980C>G | |
6 | g.116616952C>T | CA365391918 | RSPH4A | c.329C>T (p.Ser110Leu) n.2980C>T | |
6 | g.116616953G>A | CA451903820 | RSPH4A | c.330G>A (p.Ser110=) n.2981G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.116616953G>C | CA451903821 | RSPH4A | c.330G>C (p.Ser110=) n.2981G>C | |
6 | g.116616953G= | CA1657314575 | RSPH4A | c.330G= (p.Ser110=) n.2981G= | |
6 | g.116616953G>T | CA451903822 | RSPH4A | c.330G>T (p.Ser110=) n.2981G>T | dbSNP |
6 | g.116616954dup | CA2578721811 | RSPH4A | c.331dup (p.Asp111GlyfsTer9) n.2982dup | gnomAD v4 |
6 | g.116616954G>A | CA365391920 | RSPH4A | c.331G>A (p.Asp111Asn) n.2982G>A | |
6 | g.116616954G>C | CA365391925 | RSPH4A | c.331G>C (p.Asp111His) n.2982G>C | gnomAD v4 |
6 | g.116616954G>T | CA365391937 | RSPH4A | c.331G>T (p.Asp111Tyr) n.2982G>T | |
6 | g.116616955A= | CA1657314578 | RSPH4A | c.332A= (p.Asp111=) n.2983A= | |
6 | g.116616955A>C | CA365391942 | RSPH4A | c.332A>C (p.Asp111Ala) n.2983A>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.116616955A>G | CA365391946 | RSPH4A | c.332A>G (p.Asp111Gly) n.2983A>G | |
6 | g.116616955A>T | CA365391947 | RSPH4A | c.332A>T (p.Asp111Val) n.2983A>T | |
6 | g.116616956C>A | CA365391948 | RSPH4A | c.333C>A (p.Asp111Glu) n.2984C>A | |
6 | g.116616956C>G | CA365391949 | RSPH4A | c.333C>G (p.Asp111Glu) n.2984C>G | |
6 | g.116616956C>T | CA451903826 | RSPH4A | c.333C>T (p.Asp111=) n.2984C>T | |
6 | g.116616957A>C | CA451903827 | RSPH4A | c.334A>C (p.Arg112=) n.2985A>C | |
6 | g.116616957A>G | CA365391967 | RSPH4A | c.334A>G (p.Arg112Gly) n.2985A>G | |
6 | g.116616957A>T | CA365391980 | RSPH4A | c.334A>T (p.Arg112Trp) n.2985A>T | |
6 | g.116616958G>A | CA365391988 | RSPH4A | c.335G>A (p.Arg112Lys) n.2986G>A | |
6 | g.116616958G>C | CA365391989 | RSPH4A | c.335G>C (p.Arg112Thr) n.2986G>C | |
6 | g.116616958G= | CA1657314580 | RSPH4A | c.335G= (p.Arg112=) n.2986G= | |
6 | g.116616958G>T | CA365391993 | RSPH4A | c.335G>T (p.Arg112Met) n.2986G>T | dbSNP gnomAD v4 |
6 | g.116616958_116616960delinsTAC | CA2573140424 | RSPH4A | c.335_337delinsTAC (p.Arg112_Thr113delinsIlePro) n.2986_2988delinsTAC | ClinVar dbSNP |
6 | g.116616959G>A | CA451903831 | RSPH4A | c.336G>A (p.Arg112=) n.2987G>A | dbSNP gnomAD v4 |
6 | g.116616959G>C | CA365391997 | RSPH4A | c.336G>C (p.Arg112Ser) n.2987G>C | |
6 | g.116616959G= | CA1657314584 | RSPH4A | c.336G= (p.Arg112=) n.2987G= | |
6 | g.116616959G>T | CA365392000 | RSPH4A | c.336G>T (p.Arg112Ser) n.2987G>T | |
6 | g.116616960A= | CA1657314586 | RSPH4A | c.337A= (p.Thr113=) n.2988A= | |
6 | g.116616960A>C | CA365392003 | RSPH4A | c.337A>C (p.Thr113Pro) n.2988A>C | dbSNP gnomAD v4 |
6 | g.116616960A>G | CA365392007 | RSPH4A | c.337A>G (p.Thr113Ala) n.2988A>G | gnomAD v4 |
6 | g.116616960A>T | CA365392014 | RSPH4A | c.337A>T (p.Thr113Ser) n.2988A>T | |
6 | g.116616961C>A | CA365392020 | RSPH4A | c.338C>A (p.Thr113Asn) n.2989C>A | |
6 | g.116616961C>G | CA365392025 | RSPH4A | c.338C>G (p.Thr113Ser) n.2989C>G | |
6 | g.116616961C>T | CA365392028 | RSPH4A | c.338C>T (p.Thr113Ile) n.2989C>T |