1 | g.228158028C>A | CA423738712 | GJC2 | c.270C>A (p.Pro90=)
| |
1 | g.228158028C= | CA1140338385 | GJC2 | c.270C= (p.Pro90=)
| |
1 | g.228158028C>G | CA423738713 | GJC2 | c.270C>G (p.Pro90=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158028C>T | CA38727414 | GJC2 | c.270C>T (p.Pro90=)
| dbSNP |
1 | g.228158029T>A | CA345097269 | GJC2 | c.271T>A (p.Ser91Thr)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158029T>C | CA345097270 | GJC2 | c.271T>C (p.Ser91Pro)
| |
1 | g.228158029T>G | CA345097268 | GJC2 | c.271T>G (p.Ser91Ala)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158029T= | CA1225628440 | GJC2 | c.271T= (p.Ser91=)
| |
1 | g.228158030C>A | CA345097271 | GJC2 | c.272C>A (p.Ser91Ter)
| gnomAD v4 |
1 | g.228158030C= | CA1225628445 | GJC2 | c.272C= (p.Ser91=)
| |
1 | g.228158030C>G | CA345097272 | GJC2 | c.272C>G (p.Ser91Trp)
| gnomAD v4 |
1 | g.228158030C>T | CA345097273 | GJC2 | c.272C>T (p.Ser91Leu)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.228158031G>A | CA423738714 | GJC2 | c.273G>A (p.Ser91=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.228158031G>C | CA423738715 | GJC2 | c.273G>C (p.Ser91=)
| |
1 | g.228158031G= | CA1225628447 | GJC2 | c.273G= (p.Ser91=)
| |
1 | g.228158031G>T | CA423738716 | GJC2 | c.273G>T (p.Ser91=)
| gnomAD v4 |
1 | g.228158032del | CA2586968348 | GJC2 | c.274del (p.Val92SerfsTer?)
| |
1 | g.228158032G>A | CA345097274 | GJC2 | c.274G>A (p.Val92Ile)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158032G>C | CA345097275 | GJC2 | c.274G>C (p.Val92Leu)
| |
1 | g.228158032G= | CA1225628450 | GJC2 | c.274G= (p.Val92=)
| |
1 | g.228158032G>T | CA345097276 | GJC2 | c.274G>T (p.Val92Phe)
| gnomAD v4 |
1 | g.228158033T>A | CA345097277 | GJC2 | c.275T>A (p.Val92Asp)
| |
1 | g.228158033T>C | CA345097279 | GJC2 | c.275T>C (p.Val92Ala)
| gnomAD v4 |
1 | g.228158033T>G | CA345097278 | GJC2 | c.275T>G (p.Val92Gly)
| |
1 | g.228158034C>A | CA1430828 | GJC2 | c.276C>A (p.Val92=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.228158034C= | CA1225628452 | GJC2 | c.276C= (p.Val92=)
| |
1 | g.228158034C>G | CA423738717 | GJC2 | c.276C>G (p.Val92=)
| |
1 | g.228158034C>T | CA423738718 | GJC2 | c.276C>T (p.Val92=)
| |
1 | g.228158035A>C | CA345097280 | GJC2 | c.277A>C (p.Met93Leu)
| |
1 | g.228158035A>G | CA345097281 | GJC2 | c.277A>G (p.Met93Val)
| gnomAD v4 |
1 | g.228158035A>T | CA345097282 | GJC2 | c.277A>T (p.Met93Leu)
| |
1 | g.228158036del | CA2650853660 | GJC2 | c.278del (p.Met93SerfsTer?)
| gnomAD v4 |
1 | g.228158036T>A | CA345097283 | GJC2 | c.278T>A (p.Met93Lys)
| |
1 | g.228158036T>C | CA1430829 | GJC2 | c.278T>C (p.Met93Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.228158036T>G | CA345097284 | GJC2 | c.278T>G (p.Met93Arg)
| gnomAD v4 |
1 | g.228158036T= | CA1225628453 | GJC2 | c.278T= (p.Met93=)
| |
1 | g.228158037G>A | CA345097285 | GJC2 | c.279G>A (p.Met93Ile)
| |
1 | g.228158037G>C | CA345097286 | GJC2 | c.279G>C (p.Met93Ile)
| |
1 | g.228158037G>T | CA345097287 | GJC2 | c.279G>T (p.Met93Ile)
| |
1 | g.228158038T>A | CA345097288 | GJC2 | c.280T>A (p.Tyr94Asn)
| |
1 | g.228158038T>C | CA345097289 | GJC2 | c.280T>C (p.Tyr94His)
| |
1 | g.228158038T>G | CA345097290 | GJC2 | c.280T>G (p.Tyr94Asp)
| |
1 | g.228158039A>C | CA345097291 | GJC2 | c.281A>C (p.Tyr94Ser)
| |
1 | g.228158039A>G | CA345097292 | GJC2 | c.281A>G (p.Tyr94Cys)
| |
1 | g.228158039A>T | CA345097293 | GJC2 | c.281A>T (p.Tyr94Phe)
| |
1 | g.228158040C>A | CA345097294 | GJC2 | c.282C>A (p.Tyr94Ter)
| |
1 | g.228158040C= | CA1225628458 | GJC2 | c.282C= (p.Tyr94=)
| |
1 | g.228158040C>G | CA1430831 | GJC2 | c.282C>G (p.Tyr94Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158040C>T | CA1430830 | GJC2 | c.282C>T (p.Tyr94=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.228158041C>A | CA345097295 | GJC2 | c.283C>A (p.Leu95Met)
| |
1 | g.228158041C= | CA1225623610 | GJC2 | c.283C= (p.Leu95=)
| |
1 | g.228158041C>G | CA1430832 | GJC2 | c.283C>G (p.Leu95Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158041C>T | CA423738719 | GJC2 | c.283C>T (p.Leu95=)
| |
1 | g.228158042T>A | CA345097296 | GJC2 | c.284T>A (p.Leu95Gln)
| |
1 | g.228158042T>C | CA345097298 | GJC2 | c.284T>C (p.Leu95Pro)
| dbSNP gnomAD v4 |
1 | g.228158042T>G | CA345097297 | GJC2 | c.284T>G (p.Leu95Arg)
| gnomAD v4 |
1 | g.228158042T= | CA1225623611 | GJC2 | c.284T= (p.Leu95=)
| |
1 | g.228158043G>A | CA1430833 | GJC2 | c.285G>A (p.Leu95=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158043G>C | CA423738720 | GJC2 | c.285G>C (p.Leu95=)
| |
1 | g.228158043G= | CA1142261509 | GJC2 | c.285G= (p.Leu95=)
| |
1 | g.228158043G>T | CA423738721 | GJC2 | c.285G>T (p.Leu95=)
| gnomAD v4 |
1 | g.228158043_228158049delinsGGGCTAC | CA1225623612 | GJC2 | c.285_291delinsGGGCTAC (p.Leu95=)
| |
1 | g.228158044G>A | CA345097299 | GJC2 | c.286G>A (p.Gly96Ser)
| |
1 | g.228158044G>C | CA345097300 | GJC2 | c.286G>C (p.Gly96Arg)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158044G= | CA1225623615 | GJC2 | c.286G= (p.Gly96=)
| |
1 | g.228158044G>T | CA345097301 | GJC2 | c.286G>T (p.Gly96Cys)
| gnomAD v4 |
1 | g.228158045_228158050del | CA1225623614 | GJC2 | c.287_292del (p.Gly96_Tyr97del)
| dbSNP |
1 | g.228158045G>A | CA345097302 | GJC2 | c.287G>A (p.Gly96Asp)
| |
1 | g.228158045G>C | CA345097303 | GJC2 | c.287G>C (p.Gly96Ala)
| |
1 | g.228158045G>T | CA345097304 | GJC2 | c.287G>T (p.Gly96Val)
| gnomAD v4 |
1 | g.228158046C>A | CA423738722 | GJC2 | c.288C>A (p.Gly96=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158046C= | CA1225623619 | GJC2 | c.288C= (p.Gly96=)
| |
1 | g.228158046C>G | CA423738723 | GJC2 | c.288C>G (p.Gly96=)
| |
1 | g.228158046C>T | CA423738724 | GJC2 | c.288C>T (p.Gly96=)
| dbSNP |
1 | g.228158047T>A | CA345097305 | GJC2 | c.289T>A (p.Tyr97Asn)
| |
1 | g.228158047T>C | CA345097306 | GJC2 | c.289T>C (p.Tyr97His)
| |
1 | g.228158047T>G | CA345097307 | GJC2 | c.289T>G (p.Tyr97Asp)
| |
1 | g.228158048A= | CA1225623623 | GJC2 | c.290A= (p.Tyr97=)
| |
1 | g.228158048A>C | CA345097308 | GJC2 | c.290A>C (p.Tyr97Ser)
| |
1 | g.228158048A>G | CA345097309 | GJC2 | c.290A>G (p.Tyr97Cys)
| |
1 | g.228158048A>T | CA345097310 | GJC2 | c.290A>T (p.Tyr97Phe)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158049C>A | CA345097311 | GJC2 | c.291C>A (p.Tyr97Ter)
| |
1 | g.228158049C= | CA1143533421 | GJC2 | c.291C= (p.Tyr97=)
| |
1 | g.228158049C>G | CA345097312 | GJC2 | c.291C>G (p.Tyr97Ter)
| dbSNP gnomAD v2 |
1 | g.228158049C>T | CA1430834 | GJC2 | c.291C>T (p.Tyr97=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158050G>A | CA345097313 | GJC2 | c.292G>A (p.Ala98Thr)
| ClinVar gnomAD v4 |
1 | g.228158050G>C | CA345097314 | GJC2 | c.292G>C (p.Ala98Pro)
| |
1 | g.228158050G>T | CA345097315 | GJC2 | c.292G>T (p.Ala98Ser)
| gnomAD v4 |
1 | g.228158050_228158051insGTA | CA2586968349 | GJC2 | c.292_293insGTA (p.Ala98delinsGlyThr)
| |
1 | g.228158051C>A | CA345097316 | GJC2 | c.293C>A (p.Ala98Asp)
| ClinVar gnomAD v4 |
1 | g.228158051C>G | CA345097317 | GJC2 | c.293C>G (p.Ala98Gly)
| |
1 | g.228158051C>T | CA345097318 | GJC2 | c.293C>T (p.Ala98Val)
| |
1 | g.228158052C>A | CA423738725 | GJC2 | c.294C>A (p.Ala98=)
| gnomAD v4 |
1 | g.228158052C= | CA1225623630 | GJC2 | c.294C= (p.Ala98=)
| |
1 | g.228158052C>G | CA423738726 | GJC2 | c.294C>G (p.Ala98=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158052C>T | CA423738728 | GJC2 | c.294C>T (p.Ala98=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158053G>A | CA1430835 | GJC2 | c.295G>A (p.Val99Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.228158053G>C | CA345097319 | GJC2 | c.295G>C (p.Val99Leu)
| dbSNP gnomAD v2 |
1 | g.228158053G= | CA1225623634 | GJC2 | c.295G= (p.Val99=)
| |
1 | g.228158053G>T | CA345097320 | GJC2 | c.295G>T (p.Val99Leu)
| gnomAD v4 |
1 | g.228158054T>A | CA345097323 | GJC2 | c.296T>A (p.Val99Glu)
| |
1 | g.228158054T>C | CA345097322 | GJC2 | c.296T>C (p.Val99Ala)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158054T>G | CA345097321 | GJC2 | c.296T>G (p.Val99Gly)
| |
1 | g.228158054T= | CA1225623638 | GJC2 | c.296T= (p.Val99=)
| |
1 | g.228158055G>A | CA423738731 | GJC2 | c.297G>A (p.Val99=)
| gnomAD v4 |
1 | g.228158055G>C | CA423738729 | GJC2 | c.297G>C (p.Val99=)
| |
1 | g.228158055G>T | CA423738730 | GJC2 | c.297G>T (p.Val99=)
| gnomAD v4 |
1 | g.228158056C>A | CA345097324 | GJC2 | c.298C>A (p.His100Asn)
| |
1 | g.228158056C>G | CA345097325 | GJC2 | c.298C>G (p.His100Asp)
| |
1 | g.228158056C>T | CA345097326 | GJC2 | c.298C>T (p.His100Tyr)
| gnomAD v4 |
1 | g.228158057A= | CA1225623640 | GJC2 | c.299A= (p.His100=)
| |
1 | g.228158057A>C | CA345097327 | GJC2 | c.299A>C (p.His100Pro)
| dbSNP |
1 | g.228158057A>G | CA345097328 | GJC2 | c.299A>G (p.His100Arg)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158057A>T | CA345097329 | GJC2 | c.299A>T (p.His100Leu)
| |
1 | g.228158058C>A | CA1430836 | GJC2 | c.300C>A (p.His100Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158058C= | CA1143849742 | GJC2 | c.300C= (p.His100=)
| |
1 | g.228158058C>G | CA345097330 | GJC2 | c.300C>G (p.His100Gln)
| |
1 | g.228158058C>T | CA423738732 | GJC2 | c.300C>T (p.His100=)
| |
1 | g.228158059C>A | CA345097331 | GJC2 | c.301C>A (p.Arg101Ser)
| |
1 | g.228158059C= | CA1148714422 | GJC2 | c.301C= (p.Arg101=)
| |
1 | g.228158059C>G | CA345097332 | GJC2 | c.301C>G (p.Arg101Gly)
| gnomAD v4 |
1 | g.228158059C>T | CA1430837 | GJC2 | c.301C>T (p.Arg101Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.228158060G>A | CA1430838 | GJC2 | c.302G>A (p.Arg101His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.228158060G>C | CA345097333 | GJC2 | c.302G>C (p.Arg101Pro)
| |
1 | g.228158060G= | CA1144050111 | GJC2 | c.302G= (p.Arg101=)
| |
1 | g.228158060G>T | CA1430839 | GJC2 | c.302G>T (p.Arg101Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158061C>A | CA423738733 | GJC2 | c.303C>A (p.Arg101=)
| |
1 | g.228158061C= | CA1142210881 | GJC2 | c.303C= (p.Arg101=)
| |
1 | g.228158061C>G | CA423738734 | GJC2 | c.303C>G (p.Arg101=)
| |
1 | g.228158061C>T | CA38727483 | GJC2 | c.303C>T (p.Arg101=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158062C>A | CA345097334 | GJC2 | c.304C>A (p.Leu102Met)
| |
1 | g.228158062C>G | CA345097335 | GJC2 | c.304C>G (p.Leu102Val)
| |
1 | g.228158062C>T | CA423738735 | GJC2 | c.304C>T (p.Leu102=)
| gnomAD v4 |
1 | g.228158063T>A | CA345097336 | GJC2 | c.305T>A (p.Leu102Gln)
| |
1 | g.228158063T>C | CA345097337 | GJC2 | c.305T>C (p.Leu102Pro)
| |
1 | g.228158063T>G | CA345097338 | GJC2 | c.305T>G (p.Leu102Arg)
| |
1 | g.228158064G>A | CA423738736 | GJC2 | c.306G>A (p.Leu102=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158064G>C | CA423738738 | GJC2 | c.306G>C (p.Leu102=)
| |
1 | g.228158064G>T | CA423738737 | GJC2 | c.306G>T (p.Leu102=)
| gnomAD v4 |
1 | g.228158065G>A | CA345097339 | GJC2 | c.307G>A (p.Ala103Thr)
| |
1 | g.228158065G>C | CA345097340 | GJC2 | c.307G>C (p.Ala103Pro)
| |
1 | g.228158065G>T | CA345097341 | GJC2 | c.307G>T (p.Ala103Ser)
| gnomAD v4 |
1 | g.228158065_228158066delinsGC | CA1225623648 | GJC2 | c.307_308delinsGC (p.Ala103=)
| |
1 | g.228158066C>A | CA345097342 | GJC2 | c.308C>A (p.Ala103Asp)
| |
1 | g.228158066C>G | CA345097343 | GJC2 | c.308C>G (p.Ala103Gly)
| |
1 | g.228158066C>T | CA345097344 | GJC2 | c.308C>T (p.Ala103Val)
| gnomAD v4 |
1 | g.228158068del | CA16617079 | GJC2 | c.310del (p.Arg104ValfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158067C>A | CA1430840 | GJC2 | c.309C>A (p.Ala103=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.228158067C= | CA1148401907 | GJC2 | c.309C= (p.Ala103=)
| |
1 | g.228158067C>G | CA423738739 | GJC2 | c.309C>G (p.Ala103=)
| |
1 | g.228158067C>T | CA423738740 | GJC2 | c.309C>T (p.Ala103=)
| ClinVar dbSNP 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)
| |
1 | g.228158082G>A | CA1430846 | GJC2 | c.324G>A (p.Gln108=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158082G>C | CA345097399 | GJC2 | c.324G>C (p.Gln108His)
| |
1 | g.228158082G= | CA1225623682 | GJC2 | c.324G= (p.Gln108=)
| |
1 | g.228158082G>T | CA345097397 | GJC2 | c.324G>T (p.Gln108His)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158083G>A | CA345097401 | GJC2 | c.325G>A (p.Glu109Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158083G>C | CA345097403 | GJC2 | c.325G>C (p.Glu109Gln)
| |
1 | g.228158083G= | CA1225623687 | GJC2 | c.325G= (p.Glu109=)
| |
1 | g.228158083G>T | CA345097405 | GJC2 | c.325G>T (p.Glu109Ter)
| gnomAD v4 |
1 | g.228158084del | CA2650853802 | GJC2 | c.326del (p.Glu109GlyfsTer?)
| gnomAD v4 |
1 | g.228158084A= | CA1225623688 | GJC2 | c.326A= (p.Glu109=)
| |
1 | g.228158084A>C | CA345097407 | GJC2 | c.326A>C (p.Glu109Ala)
| |
1 | g.228158084A>G | CA1430847 | GJC2 | c.326A>G (p.Glu109Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158084A>T | CA345097410 | GJC2 | c.326A>T (p.Glu109Val)
| |
1 | g.228158085G>A | CA423738749 | GJC2 | c.327G>A (p.Glu109=)
| gnomAD v4 |
1 | g.228158085G>C | CA345097411 | GJC2 | c.327G>C (p.Glu109Asp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158085G= | CA1225623690 | GJC2 | c.327G= (p.Glu109=)
| |
1 | g.228158085G>T | CA345097413 | GJC2 | c.327G>T (p.Glu109Asp)
| gnomAD v4 |
1 | g.228158086C>A | CA423738750 | GJC2 | c.328C>A (p.Arg110=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158086C= | CA1225623692 | GJC2 | c.328C= (p.Arg110=)
| |
1 | g.228158086C>G | CA345097414 | GJC2 | c.328C>G (p.Arg110Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158086C>T | CA345097416 | GJC2 | c.328C>T (p.Arg110Trp)
| gnomAD v4 |
1 | g.228158087G>A | CA1430848 | GJC2 | c.329G>A (p.Arg110Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158087G>C | CA345097419 | GJC2 | c.329G>C (p.Arg110Pro)
| dbSNP |
1 | g.228158087G= | CA1225623696 | GJC2 | c.329G= (p.Arg110=)
| |
1 | g.228158087G>T | CA345097421 | GJC2 | c.329G>T (p.Arg110Leu)
| gnomAD v4 |
1 | g.228158088G>A | CA423738756 | GJC2 | c.330G>A (p.Arg110=)
| gnomAD v4 |
1 | g.228158088G>C | CA423738758 | GJC2 | c.330G>C (p.Arg110=)
| dbSNP |
1 | g.228158088G= | CA1225623698 | GJC2 | c.330G= (p.Arg110=)
| |
1 | g.228158088G>T | CA423738757 | GJC2 | c.330G>T (p.Arg110=)
| |
1 | g.228158089C>A | CA345097425 | GJC2 | c.331C>A (p.Arg111Ser)
| gnomAD v4 |
1 | g.228158089C= | CA1225623700 | GJC2 | c.331C= (p.Arg111=)
| |
1 | g.228158089C>G | CA345097423 | GJC2 | c.331C>G (p.Arg111Gly)
| |
1 | g.228158089C>T | CA38727565 | GJC2 | c.331C>T (p.Arg111Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158090_228158129del | CA2650853833 | GJC2 | c.332_371del (p.Arg111ProfsTer?)
| gnomAD v4 |
1 | g.228158090G>A | CA345097427 | GJC2 | c.332G>A (p.Arg111His)
| gnomAD v4 |
1 | g.228158090G>C | CA345097429 | GJC2 | c.332G>C (p.Arg111Pro)
| |
1 | g.228158090G>T | CA345097431 | GJC2 | c.332G>T (p.Arg111Leu)
| gnomAD v4 |
1 | g.228158091C>A | CA423738761 | GJC2 | c.333C>A (p.Arg111=)
| |
1 | g.228158091C>G | CA423738759 | GJC2 | c.333C>G (p.Arg111=)
| |
1 | g.228158091C>T | CA423738760 | GJC2 | c.333C>T (p.Arg111=)
| gnomAD v4 |
1 | g.228158092C>A | CA345097433 | GJC2 | c.334C>A (p.Arg112Ser)
| gnomAD v4 |
1 | g.228158092C>G | CA345097435 | GJC2 | c.334C>G (p.Arg112Gly)
| |
1 | g.228158092C>T | CA345097436 | GJC2 | c.334C>T (p.Arg112Cys)
| gnomAD v4 |
1 | g.228158093G>A | CA345097438 | GJC2 | c.335G>A (p.Arg112His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158093G>C | CA1430849 | GJC2 | c.335G>C (p.Arg112Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158093G= | CA1225623704 | GJC2 | c.335G= (p.Arg112=)
| |
1 | g.228158093G>T | CA345097441 | GJC2 | c.335G>T (p.Arg112Leu)
| gnomAD v4 |
1 | g.228158093_228158118delinsGCGCCCTCCGCCGCCGCCCGGGGCCA | CA1225623707 | GJC2 | c.335_360delinsGCGCCCTCCGCCGCCGCCCGGGGCCA (p.Arg112=)
| |
1 | g.228158094C>A | CA423738763 | GJC2 | c.336C>A (p.Arg112=)
| |
1 | g.228158094C= | CA1225623715 | GJC2 | c.336C= (p.Arg112=)
| |
1 | g.228158094C>G | CA423738765 | GJC2 | c.336C>G (p.Arg112=)
| gnomAD v4 |
1 | g.228158094C>T | CA423738766 | GJC2 | c.336C>T (p.Arg112=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.228158098_228158122del | CA732478079 | GJC2 | c.340_364del (p.Leu114AlafsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158095G>A | CA345097443 | GJC2 | c.337G>A (p.Ala113Thr)
| gnomAD v4 |
1 | g.228158095G>C | CA345097446 | GJC2 | c.337G>C (p.Ala113Pro)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158095G= | CA1225623716 | GJC2 | c.337G= (p.Ala113=)
| |
1 | g.228158095G>T | CA345097448 | GJC2 | c.337G>T (p.Ala113Ser)
| gnomAD v4 |
1 | g.228158096C>A | CA345097450 | GJC2 | c.338C>A (p.Ala113Asp)
| gnomAD v4 |
1 | g.228158096C= | CA1225623718 | GJC2 | c.338C= (p.Ala113=)
| |
1 | g.228158096C>G | CA345097453 | GJC2 | c.338C>G (p.Ala113Gly)
| |
1 | g.228158096C>T | CA345097451 | GJC2 | c.338C>T (p.Ala113Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158097C>A | CA423738772 | GJC2 | c.339C>A (p.Ala113=)
| gnomAD v4 |
1 | g.228158097C>G | CA423738774 | GJC2 | c.339C>G (p.Ala113=)
| |
1 | g.228158097C>T | CA423738775 | GJC2 | c.339C>T (p.Ala113=)
| gnomAD v4 |
1 | g.228158098C>A | CA345097456 | GJC2 | c.340C>A (p.Leu114Ile)
| gnomAD v4 |
1 | g.228158098C>G | CA345097459 | GJC2 | c.340C>G (p.Leu114Val)
| |
1 | g.228158098C>T | CA345097457 | GJC2 | c.340C>T (p.Leu114Phe)
| gnomAD v4 |
1 | g.228158099T>A | CA345097461 | GJC2 | c.341T>A (p.Leu114His)
| |
1 | g.228158099T>C | CA345097463 | GJC2 | c.341T>C (p.Leu114Pro)
| gnomAD v4 |
1 | g.228158099T>G | CA345097465 | GJC2 | c.341T>G (p.Leu114Arg)
| gnomAD v4 |
1 | g.228158099dup | CA2698393702 | GJC2 | c.341dup (p.Arg115ProfsTer23)
| dbSNP |
1 | g.228158099_228158102delinsTCCG | CA1225623721 | GJC2 | c.341_344delinsTCCG (p.Leu114=)
| |
1 | g.228158100C>A | CA423738778 | GJC2 | c.342C>A (p.Leu114=)
| gnomAD v4 |
1 | g.228158100C= | CA1225623724 | GJC2 | c.342C= (p.Leu114=)
| |
1 | g.228158100C>G | CA423738780 | GJC2 | c.342C>G (p.Leu114=)
| |
1 | g.228158100C>T | CA38727575 | GJC2 | c.342C>T (p.Leu114=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158108_228158110dup | CA2574010185 | GJC2 | c.350_352dup (p.Arg117_Pro118insArg)
| gnomAD v4 |
1 | g.228158108_228158110del | CA732478087 | GJC2 | c.350_352del (p.Arg117del)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158105_228158110del | CA2650853888 | GJC2 | c.347_352del (p.Arg116_Arg117del)
| gnomAD v4 |
1 | g.228158101C>A | CA345097468 | GJC2 | c.343C>A (p.Arg115Ser)
| gnomAD v4 |
1 | g.228158101C>G | CA345097469 | GJC2 | c.343C>G (p.Arg115Gly)
| |
1 | g.228158101C>T | CA345097472 | GJC2 | c.343C>T (p.Arg115Cys)
| ClinVar dbSNP gnomAD v4 |
1 | g.228158102G>A | CA345097474 | GJC2 | c.344G>A (p.Arg115His)
| dbSNP gnomAD v4 |
1 | g.228158102G>C | CA345097477 | GJC2 | c.344G>C (p.Arg115Pro)
| dbSNP |
1 | g.228158102G= | CA1225623726 | GJC2 | c.344G= (p.Arg115=)
| |
1 | g.228158102G>T | CA345097479 | GJC2 | c.344G>T (p.Arg115Leu)
| gnomAD v4 |
1 | g.228158103C>A | CA423738787 | GJC2 | c.345C>A (p.Arg115=)
| |
1 | g.228158103C= | CA1225623728 | GJC2 | c.345C= (p.Arg115=)
| |
1 | g.228158103C>G | CA38727596 | GJC2 | c.345C>G (p.Arg115=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158103C>T | CA423738785 | GJC2 | c.345C>T (p.Arg115=)
| gnomAD v4 |
1 | g.228158104C>A | CA345097481 | GJC2 | c.346C>A (p.Arg116Ser)
| |
1 | g.228158104C= | CA1225623731 | GJC2 | c.346C= (p.Arg116=)
| |
1 | g.228158104C>G | CA1430850 | GJC2 | c.346C>G (p.Arg116Gly)
| dbSNP ExAC gnomAD v4 |
1 | g.228158104C>T | CA345097484 | GJC2 | c.346C>T (p.Arg116Cys)
| dbSNP gnomAD v4 |
1 | g.228158105G>A | CA345097491 | GJC2 | c.347G>A (p.Arg116His)
| gnomAD v4 |
1 | g.228158105G>C | CA345097487 | GJC2 | c.347G>C (p.Arg116Pro)
| |
1 | g.228158105G>T | CA345097489 | GJC2 | c.347G>T (p.Arg116Leu)
| gnomAD v4 |
1 | g.228158106C>A | CA423738789 | GJC2 | c.348C>A (p.Arg116=)
| gnomAD v4 |
1 | g.228158106C>G | CA423738791 | GJC2 | c.348C>G (p.Arg116=)
| |
1 | g.228158106C>T | CA423738793 | GJC2 | c.348C>T (p.Arg116=)
| |
1 | g.228158107C>A | CA345097493 | GJC2 | c.349C>A (p.Arg117Ser)
| gnomAD v4 |
1 | g.228158107C>G | CA345097495 | GJC2 | c.349C>G (p.Arg117Gly)
| |
1 | g.228158107C>T | CA345097497 | GJC2 | c.349C>T (p.Arg117Cys)
| gnomAD v4 |
1 | g.228158108G>A | CA345097499 | GJC2 | c.350G>A (p.Arg117His)
| gnomAD v4 |
1 | g.228158108G>C | CA345097500 | GJC2 | c.350G>C (p.Arg117Pro)
| |
1 | g.228158108G= | CA1225623732 | GJC2 | c.350G= (p.Arg117=)
| |
1 | g.228158108G>T | CA345097502 | GJC2 | c.350G>T (p.Arg117Leu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158109C>A | CA423738795 | GJC2 | c.351C>A (p.Arg117=)
| |
1 | g.228158109C= | CA1225623738 | GJC2 | c.351C= (p.Arg117=)
| |
1 | g.228158109C>G | CA423738796 | GJC2 | c.351C>G (p.Arg117=)
| |
1 | g.228158109C>T | CA423738797 | GJC2 | c.351C>T (p.Arg117=)
| dbSNP |
1 | g.228158111dup | CA1013058372 | GJC2 | c.353dup (p.Pro120AlafsTer18)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158110C>A | CA345097504 | GJC2 | c.352C>A (p.Pro118Thr)
| |
1 | g.228158110C= | CA1225623740 | GJC2 | c.352C= (p.Pro118=)
| |
1 | g.228158110C>G | CA345097506 | GJC2 | c.352C>G (p.Pro118Ala)
| |
1 | g.228158110C>T | CA1430851 | GJC2 | c.352C>T (p.Pro118Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.228158111C>A | CA345097509 | GJC2 | c.353C>A (p.Pro118Gln)
| gnomAD v4 |
1 | g.228158111C>G | CA345097511 | GJC2 | c.353C>G (p.Pro118Arg)
| gnomAD v4 |
1 | g.228158111C>T | CA345097512 | GJC2 | c.353C>T (p.Pro118Leu)
| gnomAD v4 |
1 | g.228158112G>A | CA1430852 | GJC2 | c.354G>A (p.Pro118=)
| dbSNP ExAC gnomAD v4 |
1 | g.228158112G>C | CA423738803 | GJC2 | c.354G>C (p.Pro118=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158112G= | CA1225623742 | GJC2 | c.354G= (p.Pro118=)
| |
1 | g.228158112G>T | CA423738801 | GJC2 | c.354G>T (p.Pro118=)
| gnomAD v4 |
1 | g.228158115dup | CA2650853949 | GJC2 | c.357dup (p.Pro120AlafsTer18)
| gnomAD v4 |
1 | g.228158115del | CA2533529944 | GJC2 | c.357del (p.Pro120HisfsTer?)
| gnomAD v4 |
1 | g.228158113G>A | CA345097518 | GJC2 | c.355G>A (p.Gly119Arg)
| gnomAD v4 |
1 | g.228158113G>C | CA345097515 | GJC2 | c.355G>C (p.Gly119Arg)
| |
1 | g.228158113G>T | CA345097516 | GJC2 | c.355G>T (p.Gly119Trp)
| |
1 | g.228158114G>A | CA345097520 | GJC2 | c.356G>A (p.Gly119Glu)
| gnomAD v4 |
1 | g.228158114G>C | CA345097522 | GJC2 | c.356G>C (p.Gly119Ala)
| |
1 | g.228158114G>T | CA345097524 | GJC2 | c.356G>T (p.Gly119Val)
| gnomAD v4 |
1 | g.228158115G>A | CA423738809 | GJC2 | c.357G>A (p.Gly119=)
| gnomAD v4 |
1 | g.228158115G>C | CA423738807 | GJC2 | c.357G>C (p.Gly119=)
| |
1 | g.228158115G>T | CA423738808 | GJC2 | c.357G>T (p.Gly119=)
| ClinVar |
1 | g.228158116C>A | CA345097531 | GJC2 | c.358C>A (p.Pro120Thr)
| gnomAD v4 |
1 | g.228158116C>G | CA345097529 | GJC2 | c.358C>G (p.Pro120Ala)
| |
1 | g.228158116C>T | CA345097527 | GJC2 | c.358C>T (p.Pro120Ser)
| gnomAD v4 |
1 | g.228158117C>A | CA345097534 | GJC2 | c.359C>A (p.Pro120Gln)
| |
1 | g.228158117C= | CA1225623745 | GJC2 | c.359C= (p.Pro120=)
| |
1 | g.228158117C>G | CA345097536 | GJC2 | c.359C>G (p.Pro120Arg)
| |
1 | g.228158117C>T | CA345097538 | GJC2 | c.359C>T (p.Pro120Leu)
| dbSNP |
1 | g.228158118A= | CA1225623748 | GJC2 | c.360A= (p.Pro120=)
| |
1 | g.228158118A>C | CA423738814 | GJC2 | c.360A>C (p.Pro120=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158118A>G | CA423738815 | GJC2 | c.360A>G (p.Pro120=)
| ClinVar gnomAD v4 |
1 | g.228158118A>T | CA423738816 | GJC2 | c.360A>T (p.Pro120=)
| |
1 | g.228158118_228158155delinsACGCCGCGCGCCCCGAGCGCACCTGCCGCCCCCGCACG | CA1225623750 | GJC2 | c.360_397delinsACGCCGCGCGCCCCGAGCGCACCTGCCGCCCCCGCACG (p.Pro120=)
| |
1 | g.228158119C>A | CA345097540 | GJC2 | c.361C>A (p.Arg121Ser)
| dbSNP |
1 | g.228158119C= | CA1225623756 | GJC2 | c.361C= (p.Arg121=)
| |
1 | g.228158119C>G | CA345097542 | GJC2 | c.361C>G (p.Arg121Gly)
| |
1 | g.228158119C>T | CA345097544 | GJC2 | c.361C>T (p.Arg121Cys)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158120_228158156del | CA16617080 | GJC2 | c.362_398del (p.Arg121ProfsTer?)
| ClinVar dbSNP |
1 | g.228158120G>A | CA345097547 | GJC2 | c.362G>A (p.Arg121His)
| gnomAD v4 |
1 | g.228158120G>C | CA345097550 | GJC2 | c.362G>C (p.Arg121Pro)
| |
1 | g.228158120G>T | CA345097548 | GJC2 | c.362G>T (p.Arg121Leu)
| gnomAD v4 |
1 | g.228158121C>A | CA423738821 | GJC2 | c.363C>A (p.Arg121=)
| gnomAD v4 |
1 | g.228158121C= | CA1225623760 | GJC2 | c.363C= (p.Arg121=)
| |
1 | g.228158121C>G | CA423738822 | GJC2 | c.363C>G (p.Arg121=)
| ClinVar dbSNP gnomAD v4 |
1 | g.228158121C>T | CA423738824 | GJC2 | c.363C>T (p.Arg121=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158122C>A | CA345097552 | GJC2 | c.364C>A (p.Arg122Ser)
| gnomAD v4 |
1 | g.228158122C= | CA1225623765 | GJC2 | c.364C= (p.Arg122=)
| |
1 | g.228158122C>G | CA345097554 | GJC2 | c.364C>G (p.Arg122Gly)
| ClinVar dbSNP gnomAD v4 |
1 | g.228158122C>T | CA345097556 | GJC2 | c.364C>T (p.Arg122Cys)
| dbSNP gnomAD v4 |
1 | g.228158127_228158128del | CA2580611555 | GJC2 | c.369_370del (p.Arg125SerfsTer12)
| ClinVar |
1 | g.228158122_228158123insT | CA345097558 | GJC2 | c.364_365insT (p.Arg122LeufsTer16)
| dbSNP |
1 | g.228158123G>A | CA345097560 | GJC2 | c.365G>A (p.Arg122His)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158123G>C | CA345097562 | GJC2 | c.365G>C (p.Arg122Pro)
| |
1 | g.228158123G= | CA1225623771 | GJC2 | c.365G= (p.Arg122=)
| |
1 | g.228158123G>T | CA345097564 | GJC2 | c.365G>T (p.Arg122Leu)
| gnomAD v4 |
1 | g.228158124C>A | CA423738829 | GJC2 | c.366C>A (p.Arg122=)
| |
1 | g.228158124C>G | CA423738827 | GJC2 | c.366C>G (p.Arg122=)
| gnomAD v4 |
1 | g.228158124C>T | CA423738828 | GJC2 | c.366C>T (p.Arg122=)
| gnomAD v4 |
1 | g.228158125G>A | CA345097566 | GJC2 | c.367G>A (p.Ala123Thr)
| gnomAD v4 |
1 | g.228158125G>C | CA345097568 | GJC2 | c.367G>C (p.Ala123Pro)
| |
1 | g.228158125G= | CA1225623776 | GJC2 | c.367G= (p.Ala123=)
| |
1 | g.228158125G>T | CA345097570 | GJC2 | c.367G>T (p.Ala123Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158126C>A | CA345097577 | GJC2 | c.368C>A (p.Ala123Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158126C= | CA1225623779 | GJC2 | c.368C= (p.Ala123=)
| |
1 | g.228158126C>G | CA345097575 | GJC2 | c.368C>G (p.Ala123Gly)
| |
1 | g.228158126C>T | CA345097573 | GJC2 | c.368C>T (p.Ala123Val)
| dbSNP gnomAD v4 |
1 | g.228158127G>A | CA423738833 | GJC2 | c.369G>A (p.Ala123=)
| gnomAD v4 |
1 | g.228158127G>C | CA423738835 | GJC2 | c.369G>C (p.Ala123=)
| |
1 | g.228158127G= | CA1225623782 | GJC2 | c.369G= (p.Ala123=)
| |
1 | g.228158127G>T | CA423738836 | GJC2 | c.369G>T (p.Ala123=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158128C>A | CA345097579 | GJC2 | c.370C>A (p.Pro124Thr)
| |
1 | g.228158128C= | CA1225623784 | GJC2 | c.370C= (p.Pro124=)
| |
1 | g.228158128C>G | CA345097582 | GJC2 | c.370C>G (p.Pro124Ala)
| |
1 | g.228158128C>T | CA345097580 | GJC2 | c.370C>T (p.Pro124Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158129_228158150dup | CA2573051505 | GJC2 | c.371_392dup (p.His132ProfsTer13)
| ClinVar dbSNP |