Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.228157901C>A | CA345096987 | GJC2 | c.143C>A (p.Ser48Ter) | |
1 | g.228157901C= | CA1143538538 | GJC2 | c.143C= (p.Ser48=) | |
1 | g.228157901C>G | CA345096988 | GJC2 | c.143C>G (p.Ser48Trp) | |
1 | g.228157901C>T | CA115337 | GJC2 | c.143C>T (p.Ser48Leu) | ClinVar dbSNP |
1 | g.228157903_228157906del | CA2650853539 | GJC2 | c.145_148del (p.Asp49SerfsTer?) | gnomAD v4 |
1 | g.228157902G>A | CA1430806 | GJC2 | c.144G>A (p.Ser48=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228157902G>C | CA423546387 | GJC2 | c.144G>C (p.Ser48=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228157902G= | CA1225628249 | GJC2 | c.144G= (p.Ser48=) | |
1 | g.228157902G>T | CA423546388 | GJC2 | c.144G>T (p.Ser48=) | gnomAD v4 |
1 | g.228157903del | CA2650853542 | GJC2 | c.145del (p.Asp49ThrfsTer?) | gnomAD v4 |
1 | g.228157902_228157906dup | CA2650853541 | GJC2 | c.144_148dup (p.Glu50GlyfsTer?) | gnomAD v4 |
1 | g.228157903G>A | CA345096989 | GJC2 | c.145G>A (p.Asp49Asn) | |
1 | g.228157903G>C | CA345096991 | GJC2 | c.145G>C (p.Asp49His) | |
1 | g.228157903G>T | CA345096990 | GJC2 | c.145G>T (p.Asp49Tyr) | COSMIC |
1 | g.228157903_228157904del | CA2650853543 | GJC2 | c.145_146del (p.Asp49ArgfsTer20) | gnomAD v4 |
1 | g.228157904A>C | CA345096992 | GJC2 | c.146A>C (p.Asp49Ala) | |
1 | g.228157904A>G | CA345096993 | GJC2 | c.146A>G (p.Asp49Gly) | |
1 | g.228157904A>T | CA345096994 | GJC2 | c.146A>T (p.Asp49Val) | |
1 | g.228157905C>A | CA345096995 | GJC2 | c.147C>A (p.Asp49Glu) | COSMIC |
1 | g.228157905C= | CA1141715364 | GJC2 | c.147C= (p.Asp49=) | |
1 | g.228157905C>G | CA345096996 | GJC2 | c.147C>G (p.Asp49Glu) | |
1 | g.228157905C>T | CA1430807 | GJC2 | c.147C>T (p.Asp49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228157906G>A | CA345096997 | GJC2 | c.148G>A (p.Glu50Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.228157906G>C | CA345096998 | GJC2 | c.148G>C (p.Glu50Gln) | |
1 | g.228157906G= | CA1225628257 | GJC2 | c.148G= (p.Glu50=) | |
1 | g.228157906G>T | CA345096999 | GJC2 | c.148G>T (p.Glu50Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228157907A>C | CA345097000 | GJC2 | c.149A>C (p.Glu50Ala) | |
1 | g.228157907A>G | CA345097001 | GJC2 | c.149A>G (p.Glu50Gly) | |
1 | g.228157907A>T | CA345097002 | GJC2 | c.149A>T (p.Glu50Val) | |
1 | g.228157908G>A | CA1430808 | GJC2 | c.150G>A (p.Glu50=) | dbSNP ExAC gnomAD v2 |
1 | g.228157908G>C | CA345097004 | GJC2 | c.150G>C (p.Glu50Asp) | |
1 | g.228157908G= | CA1225628261 | GJC2 | c.150G= (p.Glu50=) | |
1 | g.228157908G>T | CA345097003 | GJC2 | c.150G>T (p.Glu50Asp) | |
1 | g.228157909C>A | CA345097005 | GJC2 | c.151C>A (p.Gln51Lys) | |
1 | g.228157909C>G | CA345097007 | GJC2 | c.151C>G (p.Gln51Glu) | |
1 | g.228157909C>T | CA345097006 | GJC2 | c.151C>T (p.Gln51Ter) | gnomAD v4 |
1 | g.228157910A>C | CA345097008 | GJC2 | c.152A>C (p.Gln51Pro) | |
1 | g.228157910A>G | CA345097010 | GJC2 | c.152A>G (p.Gln51Arg) | COSMIC |
1 | g.228157910A>T | CA345097009 | GJC2 | c.152A>T (p.Gln51Leu) | |
1 | g.228157911G>A | CA423546389 | GJC2 | c.153G>A (p.Gln51=) | |
1 | g.228157911G>C | CA345097011 | GJC2 | c.153G>C (p.Gln51His) | |
1 | g.228157911G>T | CA345097012 | GJC2 | c.153G>T (p.Gln51His) | |
1 | g.228157912G>A | CA1430809 | GJC2 | c.154G>A (p.Ala52Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228157912G>C | CA345097013 | GJC2 | c.154G>C (p.Ala52Pro) | |
1 | g.228157912G= | CA1225628265 | GJC2 | c.154G= (p.Ala52=) | |
1 | g.228157912G>T | CA345097014 | GJC2 | c.154G>T (p.Ala52Ser) | gnomAD v4 |
1 | g.228157913C>A | CA345097015 | GJC2 | c.155C>A (p.Ala52Asp) | |
1 | g.228157913C>G | CA345097016 | GJC2 | c.155C>G (p.Ala52Gly) | |
1 | g.228157913C>T | CA345097017 | GJC2 | c.155C>T (p.Ala52Val) | gnomAD v4 |
1 | g.228157914C>A | CA423546390 | GJC2 | c.156C>A (p.Ala52=) |