UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.228157871T>A | CA345096926 | GJC2 | c.113T>A (p.Leu38Gln) | |
| 1 | g.228157871T>C | CA345096927 | GJC2 | c.113T>C (p.Leu38Pro) | |
| 1 | g.228157871T>G | CA345096928 | GJC2 | c.113T>G (p.Leu38Arg) | |
| 1 | g.228157872G>A | CA423546361 | GJC2 | c.114G>A (p.Leu38=) | |
| 1 | g.228157872G>C | CA423546362 | GJC2 | c.114G>C (p.Leu38=) | |
| 1 | g.228157872G>T | CA423546363 | GJC2 | c.114G>T (p.Leu38=) | |
| 1 | g.228157873A= | CA1225628180 | GJC2 | c.115A= (p.Thr39=) | |
| 1 | g.228157873A>C | CA345096929 | GJC2 | c.115A>C (p.Thr39Pro) | |
| 1 | g.228157873A>G | CA345096930 | GJC2 | c.115A>G (p.Thr39Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.228157873A>T | CA345096931 | GJC2 | c.115A>T (p.Thr39Ser) | |
| 1 | g.228157874C>A | CA345096934 | GJC2 | c.116C>A (p.Thr39Lys) | |
| 1 | g.228157874C= | CA1225628184 | GJC2 | c.116C= (p.Thr39=) | |
| 1 | g.228157874C>G | CA345096932 | GJC2 | c.116C>G (p.Thr39Arg) | |
| 1 | g.228157874C>T | CA345096933 | GJC2 | c.116C>T (p.Thr39Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.228157875G>A | CA423546364 | GJC2 | c.117G>A (p.Thr39=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.228157875G>C | CA1430802 | GJC2 | c.117G>C (p.Thr39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.228157875G= | CA1225628188 | GJC2 | c.117G= (p.Thr39=) | |
| 1 | g.228157875G>T | CA423546365 | GJC2 | c.117G>T (p.Thr39=) | |
| 1 | g.228157876G>A | CA345096935 | GJC2 | c.118G>A (p.Ala40Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.228157876G>C | CA345096936 | GJC2 | c.118G>C (p.Ala40Pro) | ClinVar dbSNP |
| 1 | g.228157876G= | CA1225628191 | GJC2 | c.118G= (p.Ala40=) | |
| 1 | g.228157876G>T | CA345096937 | GJC2 | c.118G>T (p.Ala40Ser) | |
| 1 | g.228157877C>A | CA345096938 | GJC2 | c.119C>A (p.Ala40Asp) | |
| 1 | g.228157877C>G | CA345096939 | GJC2 | c.119C>G (p.Ala40Gly) | |
| 1 | g.228157877C>T | CA345096940 | GJC2 | c.119C>T (p.Ala40Val) | |
| 1 | g.228157878T>A | CA423546368 | GJC2 | c.120T>A (p.Ala40=) | |
| 1 | g.228157878T>C | CA423546366 | GJC2 | c.120T>C (p.Ala40=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.228157878T>G | CA423546367 | GJC2 | c.120T>G (p.Ala40=) | |
| 1 | g.228157878T= | CA1225628195 | GJC2 | c.120T= (p.Ala40=) | |
| 1 | g.228157879G>A | CA1430803 | GJC2 | c.121G>A (p.Val41Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.228157879G>C | CA345096941 | GJC2 | c.121G>C (p.Val41Leu) | |
| 1 | g.228157879G= | CA1144153969 | GJC2 | c.121G= (p.Val41=) | |
| 1 | g.228157879G>T | CA345096942 | GJC2 | c.121G>T (p.Val41Leu) | |
| 1 | g.228157880T>A | CA345096943 | GJC2 | c.122T>A (p.Val41Glu) | |
| 1 | g.228157880T>C | CA345096944 | GJC2 | c.122T>C (p.Val41Ala) | |
| 1 | g.228157880T>G | CA345096945 | GJC2 | c.122T>G (p.Val41Gly) | |
| 1 | g.228157881G>A | CA423546369 | GJC2 | c.123G>A (p.Val41=) | |
| 1 | g.228157881G>C | CA423546370 | GJC2 | c.123G>C (p.Val41=) | |
| 1 | g.228157881G>T | CA423546371 | GJC2 | c.123G>T (p.Val41=) | |
| 1 | g.228157883del | CA2650853536 | GJC2 | c.125del (p.Gly42AlafsTer?) | gnomAD v4 |
| 1 | g.228157882G>A | CA345096946 | GJC2 | c.124G>A (p.Gly42Ser) | |
| 1 | g.228157882G>C | CA345096948 | GJC2 | c.124G>C (p.Gly42Arg) | |
| 1 | g.228157882G>T | CA345096947 | GJC2 | c.124G>T (p.Gly42Cys) | |
| 1 | g.228157883G>A | CA345096949 | GJC2 | c.125G>A (p.Gly42Asp) | dbSNP gnomAD v4 |
| 1 | g.228157883G>C | CA345096951 | GJC2 | c.125G>C (p.Gly42Ala) | |
| 1 | g.228157883G= | CA1225628198 | GJC2 | c.125G= (p.Gly42=) | |
| 1 | g.228157883G>T | CA345096950 | GJC2 | c.125G>T (p.Gly42Val) | |
| 1 | g.228157884C>A | CA423546372 | GJC2 | c.126C>A (p.Gly42=) | |
| 1 | g.228157884C= | CA1225628200 | GJC2 | c.126C= (p.Gly42=) | |
| 1 | g.228157884C>G | CA423546373 | GJC2 | c.126C>G (p.Gly42=) | |
| 1 | g.228157884C>T | CA423546374 | GJC2 | c.126C>T (p.Gly42=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.228157885G>A | CA1430804 | GJC2 | c.127G>A (p.Gly43Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.228157885G>C | CA345096952 | GJC2 | c.127G>C (p.Gly43Arg) | |
| 1 | g.228157885G= | CA1225628204 | GJC2 | c.127G= (p.Gly43=) | |
| 1 | g.228157885G>T | CA345096953 | GJC2 | c.127G>T (p.Gly43Cys) | |
| 1 | g.228157886G>A | CA1430805 | GJC2 | c.128G>A (p.Gly43Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.228157886G>C | CA345096954 | GJC2 | c.128G>C (p.Gly43Ala) | |
| 1 | g.228157886G= | CA1225628205 | GJC2 | c.128G= (p.Gly43=) | |
| 1 | g.228157886G>T | CA345096955 | GJC2 | c.128G>T (p.Gly43Val) | |
| 1 | g.228157887C>A | CA423546375 | GJC2 | c.129C>A (p.Gly43=) | |
| 1 | g.228157887C= | CA1225628207 | GJC2 | c.129C= (p.Gly43=) | |
| 1 | g.228157887C>G | CA423546376 | GJC2 | c.129C>G (p.Gly43=) | |
| 1 | g.228157887C>T | CA423546377 | GJC2 | c.129C>T (p.Gly43=) | dbSNP gnomAD v4 |
| 1 | g.228157888G>A | CA345096956 | GJC2 | c.130G>A (p.Glu44Lys) | gnomAD v4 COSMIC |
| 1 | g.228157888G>C | CA345096957 | GJC2 | c.130G>C (p.Glu44Gln) | |
| 1 | g.228157888G= | CA1225628211 | GJC2 | c.130G= (p.Glu44=) | |
| 1 | g.228157888G>T | CA38727271 | GJC2 | c.130G>T (p.Glu44Ter) | dbSNP |
| 1 | g.228157889A>C | CA345096958 | GJC2 | c.131A>C (p.Glu44Ala) | |
| 1 | g.228157889A>G | CA345096959 | GJC2 | c.131A>G (p.Glu44Gly) | |
| 1 | g.228157889A>T | CA345096960 | GJC2 | c.131A>T (p.Glu44Val) | |
| 1 | g.228157890G>A | CA38727278 | GJC2 | c.132G>A (p.Glu44=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.228157890G>C | CA345096962 | GJC2 | c.132G>C (p.Glu44Asp) | |
| 1 | g.228157890G= | CA1225628213 | GJC2 | c.132G= (p.Glu44=) | |
| 1 | g.228157890G>T | CA345096961 | GJC2 | c.132G>T (p.Glu44Asp) | |
| 1 | g.228157891G>A | CA345096963 | GJC2 | c.133G>A (p.Ala45Thr) | dbSNP |
| 1 | g.228157891G>C | CA345096964 | GJC2 | c.133G>C (p.Ala45Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.228157891G= | CA1225628220 | GJC2 | c.133G= (p.Ala45=) | |
| 1 | g.228157891G>T | CA345096965 | GJC2 | c.133G>T (p.Ala45Ser) | |
| 1 | g.228157892C>A | CA345096966 | GJC2 | c.134C>A (p.Ala45Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.228157892C= | CA1225628223 | GJC2 | c.134C= (p.Ala45=) | |
| 1 | g.228157892C>G | CA345096967 | GJC2 | c.134C>G (p.Ala45Gly) | |
| 1 | g.228157892C>T | CA345096968 | GJC2 | c.134C>T (p.Ala45Val) | dbSNP gnomAD v2 |
| 1 | g.228157893C>A | CA423546379 | GJC2 | c.135C>A (p.Ala45=) | |
| 1 | g.228157893C= | CA1225628227 | GJC2 | c.135C= (p.Ala45=) | |
| 1 | g.228157893C>G | CA423546380 | GJC2 | c.135C>G (p.Ala45=) | |
| 1 | g.228157893C>T | CA423546381 | GJC2 | c.135C>T (p.Ala45=) | |
| 1 | g.228157894A>C | CA345096969 | GJC2 | c.136A>C (p.Ile46Leu) | |
| 1 | g.228157894A>G | CA345096970 | GJC2 | c.136A>G (p.Ile46Val) | gnomAD v4 |
| 1 | g.228157894A>T | CA345096971 | GJC2 | c.136A>T (p.Ile46Phe) | |
| 1 | g.228157895_228157898dup | CA38727285 | GJC2 | c.137_140dup (p.Ser48LeufsTer23) | dbSNP |
| 1 | g.228157895T>A | CA345096972 | GJC2 | c.137T>A (p.Ile46Asn) | |
| 1 | g.228157895T>C | CA345096973 | GJC2 | c.137T>C (p.Ile46Thr) | dbSNP |
| 1 | g.228157895T>G | CA345096974 | GJC2 | c.137T>G (p.Ile46Ser) | |
| 1 | g.228157895T= | CA1225628232 | GJC2 | c.137T= (p.Ile46=) | |
| 1 | g.228157896C>A | CA423546382 | GJC2 | c.138C>A (p.Ile46=) | |
| 1 | g.228157896C= | CA1225628234 | GJC2 | c.138C= (p.Ile46=) | |
| 1 | g.228157896C>G | CA345096975 | GJC2 | c.138C>G (p.Ile46Met) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.228157896C>T | CA423546383 | GJC2 | c.138C>T (p.Ile46=) | |
| 1 | g.228157897T>A | CA345096978 | GJC2 | c.139T>A (p.Tyr47Asn) | |
| 1 | g.228157897T>C | CA345096976 | GJC2 | c.139T>C (p.Tyr47His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.228157897T>G | CA345096977 | GJC2 | c.139T>G (p.Tyr47Asp) | |
| 1 | g.228157897T= | CA1225628236 | GJC2 | c.139T= (p.Tyr47=) | |
| 1 | g.228157898A>C | CA345096979 | GJC2 | c.140A>C (p.Tyr47Ser) | |
| 1 | g.228157898A>G | CA345096980 | GJC2 | c.140A>G (p.Tyr47Cys) | |
| 1 | g.228157898A>T | CA345096981 | GJC2 | c.140A>T (p.Tyr47Phe) | |
| 1 | g.228157899C>A | CA345096982 | GJC2 | c.141C>A (p.Tyr47Ter) | |
| 1 | g.228157899C= | CA1225628238 | GJC2 | c.141C= (p.Tyr47=) | |
| 1 | g.228157899C>G | CA345096983 | GJC2 | c.141C>G (p.Tyr47Ter) | ClinVar dbSNP |
| 1 | g.228157899C>T | CA423546386 | GJC2 | c.141C>T (p.Tyr47=) | |
| 1 | g.228157900T>A | CA345096984 | GJC2 | c.142T>A (p.Ser48Thr) | |
| 1 | g.228157900T>C | CA345096986 | GJC2 | c.142T>C (p.Ser48Pro) | |
| 1 | g.228157900T>G | CA345096985 | GJC2 | c.142T>G (p.Ser48Ala) | |
| 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=) | |
| 1 | g.228157914C= | CA1225628268 | GJC2 | c.156C= (p.Ala52=) | |
| 1 | g.228157914C>G | CA423546391 | GJC2 | c.156C>G (p.Ala52=) | dbSNP gnomAD v4 |
| 1 | g.228157914C>T | CA423546392 | GJC2 | c.156C>T (p.Ala52=) | |
| 1 | g.228157915A>C | CA345097018 | GJC2 | c.157A>C (p.Lys53Gln) | |
| 1 | g.228157915A>G | CA345097019 | GJC2 | c.157A>G (p.Lys53Glu) | |
| 1 | g.228157915A>T | CA345097020 | GJC2 | c.157A>T (p.Lys53Ter) | |
| 1 | g.228157916A>C | CA345097023 | GJC2 | c.158A>C (p.Lys53Thr) | |
| 1 | g.228157916A>G | CA345097022 | GJC2 | c.158A>G (p.Lys53Arg) | |
| 1 | g.228157916A>T | CA345097021 | GJC2 | c.158A>T (p.Lys53Met) | |
| 1 | g.228157917G>A | CA1430810 | GJC2 | c.159G>A (p.Lys53=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.228157917G>C | CA345097024 | GJC2 | c.159G>C (p.Lys53Asn) | |
| 1 | g.228157917G= | CA1225628273 | GJC2 | c.159G= (p.Lys53=) | |
| 1 | g.228157917G>T | CA345097025 | GJC2 | c.159G>T (p.Lys53Asn) | |
| 1 | g.228157918T>A | CA345097026 | GJC2 | c.160T>A (p.Phe54Ile) | |
| 1 | g.228157918T>C | CA345097027 | GJC2 | c.160T>C (p.Phe54Leu) | |
| 1 | g.228157918T>G | CA345097028 | GJC2 | c.160T>G (p.Phe54Val) | |
| 1 | g.228157919T>A | CA345097029 | GJC2 | c.161T>A (p.Phe54Tyr) | |
| 1 | g.228157919T>C | CA345097030 | GJC2 | c.161T>C (p.Phe54Ser) | |
| 1 | g.228157919T>G | CA345097031 | GJC2 | c.161T>G (p.Phe54Cys) | |
| 1 | g.228157920C>A | CA345097032 | GJC2 | c.162C>A (p.Phe54Leu) | |
| 1 | g.228157920C>G | CA345097033 | GJC2 | c.162C>G (p.Phe54Leu) | |
| 1 | g.228157920C>T | CA423546393 | GJC2 | c.162C>T (p.Phe54=) | |
| 1 | g.228157921A>C | CA345097036 | GJC2 | c.163A>C (p.Thr55Pro) | |
| 1 | g.228157921A>G | CA345097035 | GJC2 | c.163A>G (p.Thr55Ala) | gnomAD v4 |
| 1 | g.228157921A>T | CA345097034 | GJC2 | c.163A>T (p.Thr55Ser) | |
| 1 | g.228157922C>A | CA345097037 | GJC2 | c.164C>A (p.Thr55Asn) | |
| 1 | g.228157922C= | CA1225628277 | GJC2 | c.164C= (p.Thr55=) | |
| 1 | g.228157922C>G | CA345097038 | GJC2 | c.164C>G (p.Thr55Ser) | |
| 1 | g.228157922C>T | CA38727328 | GJC2 | c.164C>T (p.Thr55Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.228157923T>A | CA423546395 | GJC2 | c.165T>A (p.Thr55=) | |
| 1 | g.228157923T>C | CA38727332 | GJC2 | c.165T>C (p.Thr55=) | dbSNP gnomAD v4 |
| 1 | g.228157923T>G | CA423546394 | GJC2 | c.165T>G (p.Thr55=) | |
| 1 | g.228157923T= | CA1225628279 | GJC2 | c.165T= (p.Thr55=) | |
| 1 | g.228157924T>A | CA345097039 | GJC2 | c.166T>A (p.Cys56Ser) | |
| 1 | g.228157924T>C | CA345097040 | GJC2 | c.166T>C (p.Cys56Arg) | |
| 1 | g.228157924T>G | CA345097041 | GJC2 | c.166T>G (p.Cys56Gly) | |
| 1 | g.228157925G>A | CA345097042 | GJC2 | c.167G>A (p.Cys56Tyr) | |
| 1 | g.228157925G>C | CA345097043 | GJC2 | c.167G>C (p.Cys56Ser) | |
| 1 | g.228157925G>T | CA345097044 | GJC2 | c.167G>T (p.Cys56Phe) | |
| 1 | g.228157926C>A | CA345097045 | GJC2 | c.168C>A (p.Cys56Ter) | |
| 1 | g.228157926C= | CA1225628283 | GJC2 | c.168C= (p.Cys56=) | |
| 1 | g.228157926C>G | CA345097046 | GJC2 | c.168C>G (p.Cys56Trp) | |
| 1 | g.228157926C>T | CA1430811 | GJC2 | c.168C>T (p.Cys56=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.228157927A>C | CA345097049 | GJC2 | c.169A>C (p.Asn57His) | |
| 1 | g.228157927A>G | CA345097048 | GJC2 | c.169A>G (p.Asn57Asp) | |
| 1 | g.228157927A>T | CA345097047 | GJC2 | c.169A>T (p.Asn57Tyr) | |
| 1 | g.228157928A>C | CA345097050 | GJC2 | c.170A>C (p.Asn57Thr) | |
| 1 | g.228157928A>G | CA345097051 | GJC2 | c.170A>G (p.Asn57Ser) | |
| 1 | g.228157928A>T | CA345097052 | GJC2 | c.170A>T (p.Asn57Ile) | |
| 1 | g.228157929C>A | CA345097053 | GJC2 | c.171C>A (p.Asn57Lys) | |
| 1 | g.228157929C= | CA1225628286 | GJC2 | c.171C= (p.Asn57=) | |
| 1 | g.228157929C>G | CA345097054 | GJC2 | c.171C>G (p.Asn57Lys) | |
| 1 | g.228157929C>T | CA423546396 | GJC2 | c.171C>T (p.Asn57=) | dbSNP gnomAD v4 |
| 1 | g.228157930A= | CA1225628289 | GJC2 | c.172A= (p.Thr58=) | |
| 1 | g.228157930A>C | CA345097055 | GJC2 | c.172A>C (p.Thr58Pro) | |
| 1 | g.228157930A>G | CA1430812 | GJC2 | c.172A>G (p.Thr58Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.228157930A>T | CA345097056 | GJC2 | c.172A>T (p.Thr58Ser) | |
| 1 | g.228157931C>A | CA345097057 | GJC2 | c.173C>A (p.Thr58Lys) | gnomAD v4 |
| 1 | g.228157931C= | CA1225628292 | GJC2 | c.173C= (p.Thr58=) | |
| 1 | g.228157931C>G | CA345097058 | GJC2 | c.173C>G (p.Thr58Arg) | |
| 1 | g.228157931C>T | CA345097059 | GJC2 | c.173C>T (p.Thr58Met) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.228157932G>A | CA1430813 | GJC2 | c.174G>A (p.Thr58=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.228157932G>C | CA423546397 | GJC2 | c.174G>C (p.Thr58=) | |
| 1 | g.228157932G= | CA1225628295 | GJC2 | c.174G= (p.Thr58=) | |
| 1 | g.228157932G>T | CA1430814 | GJC2 | c.174G>T (p.Thr58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.228157935_228157948dup | CA2586968346 | GJC2 | c.177_190dup (p.Asp64GlyfsTer?) | |
| 1 | g.228157933C>A | CA1430815 | GJC2 | c.175C>A (p.Arg59=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.228157933C= | CA1142100267 | GJC2 | c.175C= (p.Arg59=) | |
| 1 | g.228157933C>G | CA345097061 | GJC2 | c.175C>G (p.Arg59Gly) | |
| 1 | g.228157933C>T | CA345097060 | GJC2 | c.175C>T (p.Arg59Trp) | gnomAD v4 |
| 1 | g.228157934G>A | CA38727345 | GJC2 | c.176G>A (p.Arg59Gln) | dbSNP gnomAD v4 |
| 1 | g.228157934G>C | CA345097062 | GJC2 | c.176G>C (p.Arg59Pro) | dbSNP gnomAD v4 |
| 1 | g.228157934G= | CA1225628305 | GJC2 | c.176G= (p.Arg59=) | |
| 1 | g.228157934G>T | CA345097063 | GJC2 | c.176G>T (p.Arg59Leu) | |
| 1 | g.228157935G>A | CA423546398 | GJC2 | c.177G>A (p.Arg59=) | |
| 1 | g.228157935G>C | CA423546399 | GJC2 | c.177G>C (p.Arg59=) | |
| 1 | g.228157935G>T | CA423546400 | GJC2 | c.177G>T (p.Arg59=) | ClinVar gnomAD v4 |
| 1 | g.228157936C>A | CA345097064 | GJC2 | c.178C>A (p.Gln60Lys) | |
| 1 | g.228157936C>G | CA345097065 | GJC2 | c.178C>G (p.Gln60Glu) | gnomAD v4 |
| 1 | g.228157936C>T | CA345097066 | GJC2 | c.178C>T (p.Gln60Ter) | |
| 1 | g.228157937A>C | CA345097067 | GJC2 | c.179A>C (p.Gln60Pro) | |
| 1 | g.228157937A>G | CA345097068 | GJC2 | c.179A>G (p.Gln60Arg) | |
| 1 | g.228157937A>T | CA345097069 | GJC2 | c.179A>T (p.Gln60Leu) | |
| 1 | g.228157938G>A | CA1430816 | GJC2 | c.180G>A (p.Gln60=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.228157938G>C | CA345097070 | GJC2 | c.180G>C (p.Gln60His) | |
| 1 | g.228157938G= | CA1143796483 | GJC2 | c.180G= (p.Gln60=) | |
| 1 | g.228157938G>T | CA345097071 | GJC2 | c.180G>T (p.Gln60His) | |
| 1 | g.228157939C>A | CA345097072 | GJC2 | c.181C>A (p.Pro61Thr) | |
| 1 | g.228157939C>G | CA345097073 | GJC2 | c.181C>G (p.Pro61Ala) | |
| 1 | g.228157939C>T | CA345097074 | GJC2 | c.181C>T (p.Pro61Ser) | gnomAD v4 |
| 1 | g.228157940C>A | CA345097077 | GJC2 | c.182C>A (p.Pro61Gln) | |
| 1 | g.228157940C>G | CA345097075 | GJC2 | c.182C>G (p.Pro61Arg) | |
| 1 | g.228157940C>T | CA345097076 | GJC2 | c.182C>T (p.Pro61Leu) | |
| 1 | g.228157941A>C | CA423546401 | GJC2 | c.183A>C (p.Pro61=) | |
| 1 | g.228157941A>G | CA423546402 | GJC2 | c.183A>G (p.Pro61=) | gnomAD v4 |
| 1 | g.228157941A>T | CA423546403 | GJC2 | c.183A>T (p.Pro61=) | |
| 1 | g.228157942G>A | CA345097078 | GJC2 | c.184G>A (p.Gly62Ser) | |
| 1 | g.228157942G>C | CA345097079 | GJC2 | c.184G>C (p.Gly62Arg) | |
| 1 | g.228157942G>T | CA345097080 | GJC2 | c.184G>T (p.Gly62Cys) | |
| 1 | g.228157943G>A | CA345097081 | GJC2 | c.185G>A (p.Gly62Asp) | |
| 1 | g.228157943G>C | CA345097082 | GJC2 | c.185G>C (p.Gly62Ala) | |
| 1 | g.228157943G>T | CA345097083 | GJC2 | c.185G>T (p.Gly62Val) | |
| 1 | g.228157944C>A | CA423546404 | GJC2 | c.186C>A (p.Gly62=) | |
| 1 | g.228157944C>G | CA423546406 | GJC2 | c.186C>G (p.Gly62=) | |
| 1 | g.228157944C>T | CA423546405 | GJC2 | c.186C>T (p.Gly62=) | |
| 1 | g.228157945T>A | CA345097084 | GJC2 | c.187T>A (p.Cys63Ser) | |
| 1 | g.228157945T>C | CA345097085 | GJC2 | c.187T>C (p.Cys63Arg) | |
| 1 | g.228157945T>G | CA345097086 | GJC2 | c.187T>G (p.Cys63Gly) | COSMIC |
| 1 | g.228157946G>A | CA345097087 | GJC2 | c.188G>A (p.Cys63Tyr) | |
| 1 | g.228157946G>C | CA345097088 | GJC2 | c.188G>C (p.Cys63Ser) | |
| 1 | g.228157946G>T | CA345097089 | GJC2 | c.188G>T (p.Cys63Phe) | |
| 1 | g.228157947C>A | CA345097091 | GJC2 | c.189C>A (p.Cys63Ter) | |
| 1 | g.228157947C= | CA1225628312 | GJC2 | c.189C= (p.Cys63=) | |
| 1 | g.228157947C>G | CA345097090 | GJC2 | c.189C>G (p.Cys63Trp) | |
| 1 | g.228157947C>T | CA423546407 | GJC2 | c.189C>T (p.Cys63=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.228157948G>A | CA1430817 | GJC2 | c.190G>A (p.Asp64Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.228157948G>C | CA345097092 | GJC2 | c.190G>C (p.Asp64His) | |
| 1 | g.228157948G= | CA1225628316 | GJC2 | c.190G= (p.Asp64=) | |
| 1 | g.228157948G>T | CA345097093 | GJC2 | c.190G>T (p.Asp64Tyr) | |
| 1 | g.228157948_228157951delinsGACA | CA1225628318 | GJC2 | c.190_193delinsGACA (p.Asp64=) | |
| 1 | g.228157949A>C | CA345097094 | GJC2 | c.191A>C (p.Asp64Ala) | |
| 1 | g.228157949A>G | CA345097095 | GJC2 | c.191A>G (p.Asp64Gly) | |
| 1 | g.228157949A>T | CA345097096 | GJC2 | c.191A>T (p.Asp64Val) | |
| 1 | g.228157951_228157953del | CA913189636 | GJC2 | c.193_195del (p.Asn65del) | ClinVar dbSNP gnomAD v4 |
| 1 | g.228157950C>A | CA345097097 | GJC2 | c.192C>A (p.Asp64Glu) | |
| 1 | g.228157950C>G | CA345097098 | GJC2 | c.192C>G (p.Asp64Glu) | |
| 1 | g.228157950C>T | CA423546408 | GJC2 | c.192C>T (p.Asp64=) | |
| 1 | g.228157951A>C | CA345097099 | GJC2 | c.193A>C (p.Asn65His) | |
| 1 | g.228157951A>G | CA345097100 | GJC2 | c.193A>G (p.Asn65Asp) | |
| 1 | g.228157951A>T | CA345097101 | GJC2 | c.193A>T (p.Asn65Tyr) | |
| 1 | g.228157952A>C | CA345097102 | GJC2 | c.194A>C (p.Asn65Thr) | |
| 1 | g.228157952A>G | CA345097103 | GJC2 | c.194A>G (p.Asn65Ser) | |
| 1 | g.228157952A>T | CA345097104 | GJC2 | c.194A>T (p.Asn65Ile) | |
| 1 | g.228157953C>A | CA345097106 | GJC2 | c.195C>A (p.Asn65Lys) | ClinVar |
| 1 | g.228157953C>G | CA345097105 | GJC2 | c.195C>G (p.Asn65Lys) | |
| 1 | g.228157953C>T | CA423738663 | GJC2 | c.195C>T (p.Asn65=) | gnomAD v4 |
| 1 | g.228157954G>A | CA345097107 | GJC2 | c.196G>A (p.Val66Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.228157954G>C | CA345097108 | GJC2 | c.196G>C (p.Val66Leu) | |
| 1 | g.228157954G= | CA1225628328 | GJC2 | c.196G= (p.Val66=) | |
| 1 | g.228157954G>T | CA345097109 | GJC2 | c.196G>T (p.Val66Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.228157955T>A | CA345097110 | GJC2 | c.197T>A (p.Val66Asp) | |
| 1 | g.228157955T>C | CA345097111 | GJC2 | c.197T>C (p.Val66Ala) | |
| 1 | g.228157955T>G | CA345097112 | GJC2 | c.197T>G (p.Val66Gly) | |
| 1 | g.228157956C>A | CA423738664 | GJC2 | c.198C>A (p.Val66=) | |
| 1 | g.228157956C>G | CA423738665 | GJC2 | c.198C>G (p.Val66=) | |
| 1 | g.228157956C>T | CA423738666 | GJC2 | c.198C>T (p.Val66=) | gnomAD v4 |
| 1 | g.228157957T>A | CA345097113 | GJC2 | c.199T>A (p.Cys67Ser) | |
| 1 | g.228157957T>C | CA345097114 | GJC2 | c.199T>C (p.Cys67Arg) | gnomAD v4 |
| 1 | g.228157957T>G | CA345097115 | GJC2 | c.199T>G (p.Cys67Gly) | |
| 1 | g.228157958G>A | CA345097116 | GJC2 | c.200G>A (p.Cys67Tyr) | |
| 1 | g.228157958G>C | CA345097117 | GJC2 | c.200G>C (p.Cys67Ser) | |
| 1 | g.228157958G>T | CA345097118 | GJC2 | c.200G>T (p.Cys67Phe) | |
| 1 | g.228157959C>A | CA345097119 | GJC2 | c.201C>A (p.Cys67Ter) | |
| 1 | g.228157959C>G | CA345097120 | GJC2 | c.201C>G (p.Cys67Trp) | |
| 1 | g.228157959C>T | CA423738667 | GJC2 | c.201C>T (p.Cys67=) | |
| 1 | g.228157960T>A | CA345097122 | GJC2 | c.202T>A (p.Tyr68Asn) | |
| 1 | g.228157960T>C | CA345097123 | GJC2 | c.202T>C (p.Tyr68His) | |
| 1 | g.228157960T>G | CA345097121 | GJC2 | c.202T>G (p.Tyr68Asp) | |
| 1 | g.228157961A= | CA1225628332 | GJC2 | c.203A= (p.Tyr68=) | |
| 1 | g.228157961A>C | CA345097124 | GJC2 | c.203A>C (p.Tyr68Ser) | gnomAD v4 |
| 1 | g.228157961A>G | CA38727371 | GJC2 | c.203A>G (p.Tyr68Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.228157961A>T | CA345097125 | GJC2 | c.203A>T (p.Tyr68Phe) | |
| 1 | g.228157962T>A | CA345097126 | GJC2 | c.204T>A (p.Tyr68Ter) | |
| 1 | g.228157962T>C | CA423738668 | GJC2 | c.204T>C (p.Tyr68=) | dbSNP |
| 1 | g.228157962T>G | CA345097127 | GJC2 | c.204T>G (p.Tyr68Ter) | |
| 1 | g.228157963G>A | CA345097128 | GJC2 | c.205G>A (p.Asp69Asn) | |
| 1 | g.228157963G>C | CA345097129 | GJC2 | c.205G>C (p.Asp69His) | |
| 1 | g.228157963G>T | CA345097130 | GJC2 | c.205G>T (p.Asp69Tyr) | |
| 1 | g.228157964A>C | CA345097133 | GJC2 | c.206A>C (p.Asp69Ala) | |
| 1 | g.228157964A>G | CA345097132 | GJC2 | c.206A>G (p.Asp69Gly) | |
| 1 | g.228157964A>T | CA345097131 | GJC2 | c.206A>T (p.Asp69Val) | |
| 1 | g.228157965C>A | CA345097134 | GJC2 | c.207C>A (p.Asp69Glu) | |
| 1 | g.228157965C= | CA1149073977 | GJC2 | c.207C= (p.Asp69=) | |
| 1 | g.228157965C>G | CA345097135 | GJC2 | c.207C>G (p.Asp69Glu) | |
| 1 | g.228157965C>T | CA1430818 | GJC2 | c.207C>T (p.Asp69=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.228157966G>A | CA345097136 | GJC2 | c.208G>A (p.Ala70Thr) | gnomAD v4 COSMIC |
| 1 | g.228157966G>C | CA345097137 | GJC2 | c.208G>C (p.Ala70Pro) | |
| 1 | g.228157966G>T | CA345097138 | GJC2 | c.208G>T (p.Ala70Ser) | |
| 1 | g.228157967C>A | CA345097141 | GJC2 | c.209C>A (p.Ala70Asp) | |
| 1 | g.228157967C>G | CA345097139 | GJC2 | c.209C>G (p.Ala70Gly) | |
| 1 | g.228157967C>T | CA345097140 | GJC2 | c.209C>T (p.Ala70Val) | |
| 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 |