Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.228157968C>A | CA1430819 | GJC2 | c.210C>A (p.Ala70=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.228157968C= | CA1225628338 | GJC2 | c.210C= (p.Ala70=) | |
1 | g.228157968C>G | CA423738670 | GJC2 | c.210C>G (p.Ala70=) | |
1 | g.228157968C>T | CA423738669 | GJC2 | c.210C>T (p.Ala70=) | |
1 | g.228157969T>A | CA345097142 | GJC2 | c.211T>A (p.Phe71Ile) | |
1 | g.228157969T>C | CA345097143 | GJC2 | c.211T>C (p.Phe71Leu) | |
1 | g.228157969T>G | CA345097144 | GJC2 | c.211T>G (p.Phe71Val) | |
1 | g.228157970T>A | CA345097145 | GJC2 | c.212T>A (p.Phe71Tyr) | dbSNP |
1 | g.228157970T>C | CA345097146 | GJC2 | c.212T>C (p.Phe71Ser) | |
1 | g.228157970T>G | CA345097147 | GJC2 | c.212T>G (p.Phe71Cys) | |
1 | g.228157970T= | CA1225628341 | GJC2 | c.212T= (p.Phe71=) | |
1 | g.228157971C>A | CA345097148 | GJC2 | c.213C>A (p.Phe71Leu) | dbSNP gnomAD v4 |
1 | g.228157971C= | CA1225628345 | GJC2 | c.213C= (p.Phe71=) | |
1 | g.228157971C>G | CA345097149 | GJC2 | c.213C>G (p.Phe71Leu) | |
1 | g.228157971C>T | CA423738671 | GJC2 | c.213C>T (p.Phe71=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.228157972G>A | CA345097150 | GJC2 | c.214G>A (p.Ala72Thr) | gnomAD v4 COSMIC |
1 | g.228157972G>C | CA345097151 | GJC2 | c.214G>C (p.Ala72Pro) | gnomAD v4 |
1 | g.228157972G>T | CA345097152 | GJC2 | c.214G>T (p.Ala72Ser) | gnomAD v4 |
1 | g.228157973C>A | CA345097153 | GJC2 | c.215C>A (p.Ala72Glu) | |
1 | g.228157973C= | CA1225628351 | GJC2 | c.215C= (p.Ala72=) | |
1 | g.228157973C>G | CA345097154 | GJC2 | c.215C>G (p.Ala72Gly) | gnomAD v4 |
1 | g.228157973C>T | CA1430820 | GJC2 | c.215C>T (p.Ala72Val) | dbSNP ExAC |
1 | g.228157974G>A | CA423738673 | GJC2 | c.216G>A (p.Ala72=) | dbSNP gnomAD v4 COSMIC |
1 | g.228157974G>C | CA423738674 | GJC2 | c.216G>C (p.Ala72=) | gnomAD v4 |
1 | g.228157974G= | CA1148570029 | GJC2 | c.216G= (p.Ala72=) | |
1 | g.228157974G>T | CA1430821 | GJC2 | c.216G>T (p.Ala72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228157974delinsAA | CA2586968347 | GJC2 | c.216delinsAA (p.Pro73ThrfsTer?) | |
1 | g.228157975C>A | CA345097155 | GJC2 | c.217C>A (p.Pro73Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.228157975C= | CA1225628359 | GJC2 | c.217C= (p.Pro73=) | |
1 | g.228157975C>G | CA345097156 | GJC2 | c.217C>G (p.Pro73Ala) | |
1 | g.228157975C>T | CA345097157 | GJC2 | c.217C>T (p.Pro73Ser) | |
1 | g.228157977_228157978del | CA2499214552 | GJC2 | c.219_220del (p.Leu74ValfsTer?) | ClinVar dbSNP gnomAD v4 |
1 | g.228157976C>A | CA345097158 | GJC2 | c.218C>A (p.Pro73His) | |
1 | g.228157976C>G | CA345097159 | GJC2 | c.218C>G (p.Pro73Arg) | |
1 | g.228157976C>T | CA345097160 | GJC2 | c.218C>T (p.Pro73Leu) | gnomAD v4 |
1 | g.228157977C>A | CA423738675 | GJC2 | c.219C>A (p.Pro73=) | |
1 | g.228157977C>G | CA423738676 | GJC2 | c.219C>G (p.Pro73=) | gnomAD v4 |
1 | g.228157977C>T | CA423738677 | GJC2 | c.219C>T (p.Pro73=) | |
1 | g.228157978C>A | CA345097161 | GJC2 | c.220C>A (p.Leu74Met) | |
1 | g.228157978C= | CA1225628365 | GJC2 | c.220C= (p.Leu74=) | |
1 | g.228157978C>G | CA345097162 | GJC2 | c.220C>G (p.Leu74Val) | ClinVar dbSNP gnomAD v4 |
1 | g.228157978C>T | CA423738678 | GJC2 | c.220C>T (p.Leu74=) | |
1 | g.228157979T>A | CA345097163 | GJC2 | c.221T>A (p.Leu74Gln) | |
1 | g.228157979T>C | CA345097164 | GJC2 | c.221T>C (p.Leu74Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.228157979T>G | CA345097165 | GJC2 | c.221T>G (p.Leu74Arg) | |
1 | g.228157979T= | CA1225628367 | GJC2 | c.221T= (p.Leu74=) | |
1 | g.228157980G>A | CA423738679 | GJC2 | c.222G>A (p.Leu74=) | |
1 | g.228157980G>C | CA423738681 | GJC2 | c.222G>C (p.Leu74=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.228157980G= | CA1225628371 | GJC2 | c.222G= (p.Leu74=) | |
1 | g.228157980G>T | CA423738680 | GJC2 | c.222G>T (p.Leu74=) | gnomAD v4 |