Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.104038223_104038245delinsGACACACATACACACACACACAC | CA1933389819 | COL17A1 | c.2935+161_2935+183delinsGTGTGTGTGTGTGTATGTGTGTC (n.2935+161_2935+183delinsGTGTGTGTGTGTGTATGTGTGTC) c.3070+161_3070+183delinsGTGTGTGTGTGTGTATGTGTGTC (n.3070+161_3070+183delinsGTGTGTGTGTGTGTATGTGTGTC) | |
10 | g.104038223_104038255delinsGACACACATACACACACACACACACACACACAC | CA1933389820 | COL17A1 | c.2935+151_2935+183delinsGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC (n.2935+151_2935+183delinsGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC) c.3070+151_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC (n.3070+151_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC) | |
10 | g.104038223_104038267delinsGACACACATACACACACACACACACACACACACACACACACACAC | CA1933389821 | COL17A1 | c.2935+139_2935+183delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC (n.2935+139_2935+183delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC) c.3070+139_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC (n.3070+139_3070+183delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTC) | |
10 | g.104038231_104038244del | CA595674022 | COL17A1 | c.2935+169_2935+182del (n.2935+169_2935+182del) c.3070+169_3070+182del (n.3070+169_3070+182del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104038231_104038246del | CA595674023 | COL17A1 | c.2935+167_2935+182del (n.2935+167_2935+182del) c.3070+167_3070+182del (n.3070+167_3070+182del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104038231_104038248del | CA2789321295 | COL17A1 | c.2935+165_2935+182del (n.2935+165_2935+182del) c.3070+165_3070+182del (n.3070+165_3070+182del) | |
10 | g.104038231_104038250del | CA659182594 | COL17A1 | c.2935+163_2935+182del (n.2935+163_2935+182del) c.3070+163_3070+182del (n.3070+163_3070+182del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038231_104038252del | CA1933389823 | COL17A1 | c.2935+161_2935+182del (n.2935+161_2935+182del) c.3070+161_3070+182del (n.3070+161_3070+182del) | dbSNP |
10 | g.104038231_104038262del | CA932070160 | COL17A1 | c.2935+151_2935+182del (n.2935+151_2935+182del) c.3070+151_3070+182del (n.3070+151_3070+182del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038231_104038274del | CA1933389824 | COL17A1 | c.2935+139_2935+182del (n.2935+139_2935+182del) c.3070+139_3070+182del (n.3070+139_3070+182del) | dbSNP |
10 | g.104038231_104038248delinsTACACACACACACACACA | CA1933389832 | COL17A1 | c.2935+158_2935+175delinsTGTGTGTGTGTGTGTGTA (n.2935+158_2935+175delinsTGTGTGTGTGTGTGTGTA) c.3070+158_3070+175delinsTGTGTGTGTGTGTGTGTA (n.3070+158_3070+175delinsTGTGTGTGTGTGTGTGTA) | |
10 | g.104038231_104038251delinsTACACACACACACACACACAC | CA2695196279 | COL17A1 | c.2935+155_2935+175delinsGTGTGTGTGTGTGTGTGTGTA (n.2935+155_2935+175delinsGTGTGTGTGTGTGTGTGTGTA) c.3070+155_3070+175delinsGTGTGTGTGTGTGTGTGTGTA (n.3070+155_3070+175delinsGTGTGTGTGTGTGTGTGTGTA) | |
10 | g.104038231_104038267delinsTACACACACACACACACACACACACACACACACACAC | CA1933389831 | COL17A1 | c.2935+139_2935+175delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA (n.2935+139_2935+175delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA) c.3070+139_3070+175delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA (n.3070+139_3070+175delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA) | |
10 | g.104038232_104038248del | CA1933389835 | COL17A1 | c.2935+158_2935+174del (n.2935+158_2935+174del) c.3070+158_3070+174del (n.3070+158_3070+174del) | dbSNP |
10 | g.104038280_104038281dup | CA659182716 | COL17A1 | c.2935+173_2935+174dup (n.2935+173_2935+174dup) c.3070+173_3070+174dup (n.3070+173_3070+174dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038278_104038281dup | CA659182714 | COL17A1 | c.2935+171_2935+174dup (n.2935+171_2935+174dup) c.3070+171_3070+174dup (n.3070+171_3070+174dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038276_104038281dup | CA659182713 | COL17A1 | c.2935+169_2935+174dup (n.2935+169_2935+174dup) c.3070+169_3070+174dup (n.3070+169_3070+174dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038274_104038281dup | CA659182712 | COL17A1 | c.2935+167_2935+174dup (n.2935+167_2935+174dup) c.3070+167_3070+174dup (n.3070+167_3070+174dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038272_104038281dup | CA659182709 | COL17A1 | c.2935+165_2935+174dup (n.2935+165_2935+174dup) c.3070+165_3070+174dup (n.3070+165_3070+174dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038270_104038281dup | CA932070223 | COL17A1 | c.2935+163_2935+174dup (n.2935+163_2935+174dup) c.3070+163_3070+174dup (n.3070+163_3070+174dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038268_104038281dup | CA659182708 | COL17A1 | c.2935+161_2935+174dup (n.2935+161_2935+174dup) c.3070+161_3070+174dup (n.3070+161_3070+174dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038266_104038281dup | CA932070225 | COL17A1 | c.2935+159_2935+174dup (n.2935+159_2935+174dup) c.3070+159_3070+174dup (n.3070+159_3070+174dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038264_104038281dup | CA932070226 | COL17A1 | c.2935+157_2935+174dup (n.2935+157_2935+174dup) c.3070+157_3070+174dup (n.3070+157_3070+174dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038262_104038281dup | CA932070227 | COL17A1 | c.2935+155_2935+174dup (n.2935+155_2935+174dup) c.3070+155_3070+174dup (n.3070+155_3070+174dup) | gnomAD v3 gnomAD v4 |
10 | g.104038280_104038281del | CA595674032 | COL17A1 | c.2935+173_2935+174del (n.2935+173_2935+174del) c.3070+173_3070+174del (n.3070+173_3070+174del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104038278_104038281del | CA595674031 | COL17A1 | c.2935+171_2935+174del (n.2935+171_2935+174del) c.3070+171_3070+174del (n.3070+171_3070+174del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104038276_104038281del | CA659182705 | COL17A1 | c.2935+169_2935+174del (n.2935+169_2935+174del) c.3070+169_3070+174del (n.3070+169_3070+174del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038274_104038281del | CA212459013 | COL17A1 | c.2935+167_2935+174del (n.2935+167_2935+174del) c.3070+167_3070+174del (n.3070+167_3070+174del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038272_104038281del | CA595674030 | COL17A1 | c.2935+165_2935+174del (n.2935+165_2935+174del) c.3070+165_3070+174del (n.3070+165_3070+174del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104038270_104038281del | CA595674029 | COL17A1 | c.2935+163_2935+174del (n.2935+163_2935+174del) c.3070+163_3070+174del (n.3070+163_3070+174del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104038268_104038281del | CA659182652 | COL17A1 | c.2935+161_2935+174del (n.2935+161_2935+174del) c.3070+161_3070+174del (n.3070+161_3070+174del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038266_104038281del | CA212459039 | COL17A1 | c.2935+159_2935+174del (n.2935+159_2935+174del) c.3070+159_3070+174del (n.3070+159_3070+174del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038264_104038281del | CA212459025 | COL17A1 | c.2935+157_2935+174del (n.2935+157_2935+174del) c.3070+157_3070+174del (n.3070+157_3070+174del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038262_104038281del | CA212459020 | COL17A1 | c.2935+155_2935+174del (n.2935+155_2935+174del) c.3070+155_3070+174del (n.3070+155_3070+174del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104038260_104038281del | CA212459017 | COL17A1 | c.2935+153_2935+174del (n.2935+153_2935+174del) c.3070+153_3070+174del (n.3070+153_3070+174del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.104038258_104038281del | CA659182690 | COL17A1 | c.2935+151_2935+174del (n.2935+151_2935+174del) c.3070+151_3070+174del (n.3070+151_3070+174del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038256_104038281del | CA659182691 | COL17A1 | c.2935+149_2935+174del (n.2935+149_2935+174del) c.3070+149_3070+174del (n.3070+149_3070+174del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038252_104038281del | CA659182692 | COL17A1 | c.2935+145_2935+174del (n.2935+145_2935+174del) c.3070+145_3070+174del (n.3070+145_3070+174del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038250_104038281del | CA932070210 | COL17A1 | c.2935+143_2935+174del (n.2935+143_2935+174del) c.3070+143_3070+174del (n.3070+143_3070+174del) | gnomAD v3 gnomAD v4 |
10 | g.104038246_104038281del | CA932070217 | COL17A1 | c.2935+139_2935+174del (n.2935+139_2935+174del) c.3070+139_3070+174del (n.3070+139_3070+174del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.104038236_104038254del | CA2529145273 | COL17A1 | c.2935+152_2935+170del (n.2935+152_2935+170del) c.3070+152_3070+170del (n.3070+152_3070+170del) | |
10 | g.104038237_104038257del | CA2561172649 | COL17A1 | c.2935+149_2935+169del (n.2935+149_2935+169del) c.3070+149_3070+169del (n.3070+149_3070+169del) | |
10 | g.104038238_104038256del | CA2789321299 | COL17A1 | c.2935+150_2935+168del (n.2935+150_2935+168del) c.3070+150_3070+168del (n.3070+150_3070+168del) | |
10 | g.104038239_104038257del | CA595674036 | COL17A1 | c.2935+149_2935+167del (n.2935+149_2935+167del) c.3070+149_3070+167del (n.3070+149_3070+167del) | gnomAD v2 |
10 | g.104038240_104038258del | CA2789321301 | COL17A1 | c.2935+148_2935+166del (n.2935+148_2935+166del) c.3070+148_3070+166del (n.3070+148_3070+166del) | |
10 | g.104038244A>G | CA595674038 | COL17A1 | c.2935+162T>C (n.2935+162T>C) c.3070+162T>C (n.3070+162T>C) | gnomAD v2 |
10 | g.104038244_104038245insTA | CA2524297202 | COL17A1 | c.2935+162_2935+163insAT (n.2935+162_2935+163insAT) c.3070+162_3070+163insAT (n.3070+162_3070+163insAT) | |
10 | g.104038245C= | CA1933389846 | COL17A1 | c.2935+161G= (n.2935+161G=) c.3070+161G= (n.3070+161G=) | |
10 | g.104038245C>G | CA659182757 | COL17A1 | c.2935+161G>C (n.2935+161G>C) c.3070+161G>C (n.3070+161G>C) | dbSNP |
10 | g.104038245C>T | CA659182756 | COL17A1 | c.2935+161G>A (n.2935+161G>A) c.3070+161G>A (n.3070+161G>A) | dbSNP |