Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.88732414dup | CA286420396 | HSALR1,PIEZO1 | c.2914dup (p.Arg972ProfsTer?) n.269+966dup | dbSNP |
16 | g.88732414del | CA2634878328 | HSALR1,PIEZO1 | c.2914del (p.Arg972AlafsTer30) n.269+966del | gnomAD v4 |
16 | g.88732414G>A | CA397109793 | HSALR1,PIEZO1 | c.2912C>T (p.Thr971Ile) n.269+966G>A | gnomAD v4 |
16 | g.88732414G>C | CA397109794 | HSALR1,PIEZO1 | c.2912C>G (p.Thr971Ser) n.269+966G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88732414G= | CA2241261073 | HSALR1,PIEZO1 | c.2912C= (p.Thr971=) n.269+966G= | |
16 | g.88732414G>T | CA397109796 | HSALR1,PIEZO1 | c.2912C>A (p.Thr971Asn) n.269+966G>T | gnomAD v4 |
16 | g.88732415T>A | CA397109799 | HSALR1,PIEZO1 | c.2911A>T (p.Thr971Ser) n.269+967T>A | |
16 | g.88732415T>C | CA286420401 | HSALR1,PIEZO1 | c.2911A>G (p.Thr971Ala) n.269+967T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88732415T>G | CA8232674 | HSALR1,PIEZO1 | c.2911A>C (p.Thr971Pro) n.269+967T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.88732415T= | CA2241261074 | HSALR1,PIEZO1 | c.2911A= (p.Thr971=) n.269+967T= | |
16 | g.88732416G>A | CA497366361 | HSALR1,PIEZO1 | c.2910C>T (p.Gly970=) n.269+968G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88732416G>C | CA497366362 | HSALR1,PIEZO1 | c.2910C>G (p.Gly970=) n.269+968G>C | gnomAD v4 |
16 | g.88732416G= | CA2241261075 | HSALR1,PIEZO1 | c.2910C= (p.Gly970=) n.269+968G= | |
16 | g.88732416G>T | CA497366363 | HSALR1,PIEZO1 | c.2910C>A (p.Gly970=) n.269+968G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88732417C>A | CA397109805 | HSALR1,PIEZO1 | c.2909G>T (p.Gly970Val) n.269+969C>A | |
16 | g.88732417C= | CA2241261076 | HSALR1,PIEZO1 | c.2909G= (p.Gly970=) n.269+969C= | |
16 | g.88732417C>G | CA397109808 | HSALR1,PIEZO1 | c.2909G>C (p.Gly970Ala) n.269+969C>G | |
16 | g.88732417C>T | CA8232675 | HSALR1,PIEZO1 | c.2909G>A (p.Gly970Asp) n.269+969C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88732418C>A | CA397109813 | HSALR1,PIEZO1 | c.2908G>T (p.Gly970Cys) n.269+970C>A | gnomAD v4 |
16 | g.88732418C= | CA2241261077 | HSALR1,PIEZO1 | c.2908G= (p.Gly970=) n.269+970C= | |
16 | g.88732418C>G | CA397109811 | HSALR1,PIEZO1 | c.2908G>C (p.Gly970Arg) n.269+970C>G | ClinVar dbSNP gnomAD v4 |
16 | g.88732418C>T | CA286420407 | HSALR1,PIEZO1 | c.2908G>A (p.Gly970Ser) n.269+970C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.88732419G>A | CA8232676 | HSALR1,PIEZO1 | c.2907C>T (p.Ser969=) n.269+971G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88732419G>C | CA397109817 | HSALR1,PIEZO1 | c.2907C>G (p.Ser969Arg) n.269+971G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88732419G= | CA2241261078 | HSALR1,PIEZO1 | c.2907C= (p.Ser969=) n.269+971G= | |
16 | g.88732419G>T | CA286420410 | HSALR1,PIEZO1 | c.2907C>A (p.Ser969Arg) n.269+971G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88732420C>A | CA397109821 | HSALR1,PIEZO1 | c.2906G>T (p.Ser969Ile) n.269+972C>A | |
16 | g.88732420C= | CA2241261079 | HSALR1,PIEZO1 | c.2906G= (p.Ser969=) n.269+972C= | |
16 | g.88732420C>G | CA397109822 | HSALR1,PIEZO1 | c.2906G>C (p.Ser969Thr) n.269+972C>G | gnomAD v4 |
16 | g.88732420C>T | CA397109824 | HSALR1,PIEZO1 | c.2906G>A (p.Ser969Asn) n.269+972C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88732421T>A | CA397109826 | HSALR1,PIEZO1 | c.2905A>T (p.Ser969Cys) n.269+973T>A | gnomAD v4 |
16 | g.88732421T>C | CA397109827 | HSALR1,PIEZO1 | c.2905A>G (p.Ser969Gly) n.269+973T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88732421T>G | CA397109828 | HSALR1,PIEZO1 | c.2905A>C (p.Ser969Arg) n.269+973T>G | |
16 | g.88732421T= | CA2241261081 | HSALR1,PIEZO1 | c.2905A= (p.Ser969=) n.269+973T= | |
16 | g.88732421_88732422delinsTG | CA2241261080 | HSALR1,PIEZO1 | c.2904_2905delinsCA (p.Ala968=) n.269+973_269+974delinsTG | |
16 | g.88732422G>A | CA497366375 | HSALR1,PIEZO1 | c.2904C>T (p.Ala968=) n.269+974G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88732422G>C | CA497366380 | HSALR1,PIEZO1 | c.2904C>G (p.Ala968=) n.269+974G>C | |
16 | g.88732422G= | CA2241261082 | HSALR1,PIEZO1 | c.2904C= (p.Ala968=) n.269+974G= | |
16 | g.88732422G>T | CA497366378 | HSALR1,PIEZO1 | c.2904C>A (p.Ala968=) n.269+974G>T | dbSNP |
16 | g.88732423del | CA624449431 | HSALR1,PIEZO1 | c.2904del (p.Ser969AlafsTer?) n.269+975del | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88732423G>A | CA397109829 | HSALR1,PIEZO1 | c.2903C>T (p.Ala968Val) n.269+975G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88732423G>C | CA397109831 | HSALR1,PIEZO1 | c.2903C>G (p.Ala968Gly) n.269+975G>C | |
16 | g.88732423G= | CA2241261083 | HSALR1,PIEZO1 | c.2903C= (p.Ala968=) n.269+975G= | |
16 | g.88732423G>T | CA397109832 | HSALR1,PIEZO1 | c.2903C>A (p.Ala968Asp) n.269+975G>T | |
16 | g.88732424C>A | CA397109843 | HSALR1,PIEZO1 | c.2902G>T (p.Ala968Ser) n.269+976C>A | |
16 | g.88732424C= | CA2241261084 | HSALR1,PIEZO1 | c.2902G= (p.Ala968=) n.269+976C= | |
16 | g.88732424C>G | CA286420414 | HSALR1,PIEZO1 | c.2902G>C (p.Ala968Pro) n.269+976C>G | dbSNP gnomAD v4 |
16 | g.88732424C>T | CA397109840 | HSALR1,PIEZO1 | c.2902G>A (p.Ala968Thr) n.269+976C>T | gnomAD v4 |
16 | g.88732425A= | CA2241261085 | HSALR1,PIEZO1 | c.2901T= (p.Phe967=) n.269+977A= | |
16 | g.88732425A>C | CA397109847 | HSALR1,PIEZO1 | c.2901T>G (p.Phe967Leu) n.269+977A>C | dbSNP gnomAD v2 gnomAD v4 |