Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.228158068del | CA16617079 | GJC2 | c.310del (p.Arg104ValfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158068C>A | CA1430841 | GJC2 | c.310C>A (p.Arg104Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158068C= | CA1225623662 | GJC2 | c.310C= (p.Arg104=) | |
1 | g.228158068C>G | CA345097345 | GJC2 | c.310C>G (p.Arg104Gly) | |
1 | g.228158068C>T | CA1430842 | GJC2 | c.310C>T (p.Arg104Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158069G>A | CA1430843 | GJC2 | c.311G>A (p.Arg104His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.228158069G>C | CA345097346 | GJC2 | c.311G>C (p.Arg104Pro) | |
1 | g.228158069G= | CA1143634413 | GJC2 | c.311G= (p.Arg104=) | |
1 | g.228158069G>T | CA345097347 | GJC2 | c.311G>T (p.Arg104Leu) | |
1 | g.228158070T>A | CA423738741 | GJC2 | c.312T>A (p.Arg104=) | |
1 | g.228158070T>C | CA423738742 | GJC2 | c.312T>C (p.Arg104=) | gnomAD v4 |
1 | g.228158070T>G | CA423738743 | GJC2 | c.312T>G (p.Arg104=) | |
1 | g.228158071G>A | CA345097348 | GJC2 | c.313G>A (p.Ala105Thr) | gnomAD v4 |
1 | g.228158071G>C | CA345097349 | GJC2 | c.313G>C (p.Ala105Pro) | |
1 | g.228158071G>T | CA345097350 | GJC2 | c.313G>T (p.Ala105Ser) | gnomAD v4 |
1 | g.228158072C>A | CA345097351 | GJC2 | c.314C>A (p.Ala105Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158072C= | CA1225623666 | GJC2 | c.314C= (p.Ala105=) | |
1 | g.228158072C>G | CA345097352 | GJC2 | c.314C>G (p.Ala105Gly) | |
1 | g.228158072C>T | CA345097353 | GJC2 | c.314C>T (p.Ala105Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.228158073G>A | CA423738744 | GJC2 | c.315G>A (p.Ala105=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158073G>C | CA423738745 | GJC2 | c.315G>C (p.Ala105=) | |
1 | g.228158073G= | CA1225623671 | GJC2 | c.315G= (p.Ala105=) | |
1 | g.228158073G>T | CA423738746 | GJC2 | c.315G>T (p.Ala105=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158074T>A | CA345097355 | GJC2 | c.316T>A (p.Ser106Thr) | |
1 | g.228158074T>C | CA345097356 | GJC2 | c.316T>C (p.Ser106Pro) | |
1 | g.228158074T>G | CA345097358 | GJC2 | c.316T>G (p.Ser106Ala) | |
1 | g.228158075C>A | CA345097360 | GJC2 | c.317C>A (p.Ser106Tyr) | |
1 | g.228158075C>G | CA345097362 | GJC2 | c.317C>G (p.Ser106Cys) | |
1 | g.228158075C>T | CA345097363 | GJC2 | c.317C>T (p.Ser106Phe) | |
1 | g.228158076T>A | CA423738747 | GJC2 | c.318T>A (p.Ser106=) | |
1 | g.228158076T>C | CA1430844 | GJC2 | c.318T>C (p.Ser106=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158076T>G | CA423738748 | GJC2 | c.318T>G (p.Ser106=) | |
1 | g.228158076T= | CA1147836089 | GJC2 | c.318T= (p.Ser106=) | |
1 | g.228158077G>A | CA345097370 | GJC2 | c.319G>A (p.Glu107Lys) | gnomAD v4 |
1 | g.228158077G>C | CA345097367 | GJC2 | c.319G>C (p.Glu107Gln) | gnomAD v4 |
1 | g.228158077G>T | CA345097369 | GJC2 | c.319G>T (p.Glu107Ter) | |
1 | g.228158078A>C | CA345097373 | GJC2 | c.320A>C (p.Glu107Ala) | |
1 | g.228158078A>G | CA345097374 | GJC2 | c.320A>G (p.Glu107Gly) | gnomAD v4 |
1 | g.228158078A>T | CA345097376 | GJC2 | c.320A>T (p.Glu107Val) | |
1 | g.228158079G>A | CA1430845 | GJC2 | c.321G>A (p.Glu107=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.228158079G>C | CA345097381 | GJC2 | c.321G>C (p.Glu107Asp) | |
1 | g.228158079G= | CA1225623675 | GJC2 | c.321G= (p.Glu107=) | |
1 | g.228158079G>T | CA345097379 | GJC2 | c.321G>T (p.Glu107Asp) | gnomAD v4 |
1 | g.228158080C>A | CA345097384 | GJC2 | c.322C>A (p.Gln108Lys) | gnomAD v4 |
1 | g.228158080C= | CA1225623678 | GJC2 | c.322C= (p.Gln108=) | |
1 | g.228158080C>G | CA345097386 | GJC2 | c.322C>G (p.Gln108Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158080C>T | CA345097388 | GJC2 | c.322C>T (p.Gln108Ter) | gnomAD v4 |
1 | g.228158081A>C | CA345097390 | GJC2 | c.323A>C (p.Gln108Pro) | gnomAD v4 |
1 | g.228158081A>G | CA345097392 | GJC2 | c.323A>G (p.Gln108Arg) | |
1 | g.228158081A>T | CA345097394 | GJC2 | c.323A>T (p.Gln108Leu) |